The Disease Ontology has been developed as a standardized ontology for human disease with the purpose of providing the biomedical community with consistent, reusable and sustainable descriptions of human disease terms, phenotype characteristics and related medical vocabulary disease concepts.
The Disease Ontology content is available via the Creative Commons Public Domain Dedication CC0 1.0 Universal license (https://creativecommons.org/publicdomain/zero/1.0/).
Formal citation, e.g. identifier in external database to indicate / attribute source(s) for the definition. Free text indicate / attribute source(s) for the definition. EXAMPLE: Author Name, URI, MeSH Term C04, PUBMED ID, Wiki uri on 31.01.2007.
Use on obsolete terms, relating the term to another term that can be used as a substitute.
Reference database or publication source.
An identifier is an information content entity that is the outcome of a dubbing process and is used to refer to one instance of entity shared by a group of people to refer to that individual entity.
A skos concept mapping used to state a hierarchical mapping link between two concepts where the DO concept is broad and the xref is narrow (represents subtypes).
A skos concept mapping used to link two concepts that are sufficiently similar that they can be used interchangeably.
A skos concept mapping used to link two concepts, indicating a high degree of confidence that the concepts can be used interchangeably.
A skos concept mapping used to state a hierarchical mapping link between two concepts where the DO concept is narrow (DO represents subtypes) and the xref is broad.
A skos concept mapping used to state an associative mapping link between two concepts.
Relating the disease to it’s causation (disease and disorder).
Relation defining child to partent inheritance type.
A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels.
hemangiosarcoma
A corneal disease that is characterized by a triangular tissue growth located_in cornea of the eye that is the result of collagen degeneration and fibrovascular proliferation.
surfer's eye
A disease that involving errors in metabolic processes of building or degradation of molecules.
metabolic disease
A crustacean allergy that has_allergic_trigger shrimp.
A drug allergy that has_allergic_trigger acetylsalicylic acid.
ASA allergy
acetylsalicylic acid allergy
A beta-lactam allergy that has_allergic_trigger benzylpenicillin.
benzyl penicillin allergy
penicillin G allergy
A beta-lactam allergy that has_allergic_trigger amoxicillin.
A cephalosporin allergy that has_allergic_trigger ceftriaxone.
rocephin allergy
A drug allergy that has_allergic_trigger carbamazepine.
Tegretol allergy
carbamazepen allergy
A drug allergy that has_allergic_trigger abacavir.
ABC allergy
A drug allergy that has_allergic_trigger isoniazide.
INH allergy
isonicotinylhydrazide allergy
A drug allergy that has_allergic_trigger lidocaine.
Lidoderm allergy
lignocaine allergy
xylocaine allergy
A drug allergy that has_allergic_trigger mepivacaine.
Carbocaine allergy
Polocaine allergy
A drug allergy that has_allergic_trigger phenobarbital.
Luminal allergy
phenobarbitol allergy
phenobarbitone allergy
A drug allergy that has_allergic_trigger phenytoin.
Dilantin allergy
A drug allergy that has_allergic_trigger ranitidine.
Zantac allergy
A drug allergy that has_allergic_trigger corticosteroid.
A drug allergy that has_allergic_trigger sulfonamide.
A drug allergy that has_allergic_trigger sulfamethoxazole.
SMX allergy
SMZ allergy
sulphamethoxazole allergy
A drug allergy that has_allergic_trigger suprofen.
Profenal allergy
A drug allergy that has_allergic_trigger thiopental.
penthiobarbital allergy
pentothiobarbital allergy
A drug allergy that has_allergic_trigger D-mannitol.
mannitol allergy
A cephalosporin allergy that has_allergic_trigger cefotaxime.
A drug allergy that has_allergic_trigger cephalosporin.
A drug allergy that has_allergic_trigger amodiaquine.
Camoquin allergy
Flavoquine allergy
A cephalosporin allergy that has_allergic_trigger cefaclor.
Ceclor allergy
cephaclor allergy
A cephalosporin allergy that has_allergic_trigger ceftazidime.
Fortaz allergy
Tazicef allergy
A cephalosporin allergy that has_allergic_trigger cefuroxime.
Zinacef allergy
cephuroxime allergy
A drug allergy that has_allergic_trigger chlorhexidine.
A drug allergy that has_allergic_trigger cyclophosphamide.
cytophosphane allergy
A drug allergy that has_allergic_trigger succinylcholine.
dicholine succinate allergy
succinocholine allergy
sux allergy
suxamethonium allergy
A drug allergy that has_allergic_trigger trimethoprim.
Primsol allergy
TMP allergy
proloprim allergy
A cephalosporin allergy that has_allergic_trigger cefixime.
A drug allergy that has_allergic_trigger diclofenac.
Voltaren allergy
A drug allergy that has_allergic_trigger carbapenems.
A beta-lactam allergy that has_allergic_trigger piperacillin.
A drug allergy that has_allergic_trigger rocuronium.
Esmeron allergy
Zemuron allergy
A drug allergy that has_allergic_trigger sulfasalazine.
A drug allergy that has_allergic_trigger tubocurarine.
DTC allergy
A beta-lactam allergy that has_allergic_trigger aztreonam.
Azactam allergy
Primbactam allergy
An allergic asthma that has_allergic_trigger meropenem, a beta-lactam antibiotic.
Merrem allergy
An isocyanates allergic asthma that has_allergic_trigger hexamethylene diisocyanate.
allergic asthma to HDI
allergic asthma to HMDI
hexamethylene diisocyanate allergic asthma
An allergic asthma that has_allergic_trigger isocyanates.
An isocyanates allergic asthma that has_allergic_trigger diphenylmethane-4,4-diisocyanate.
allergic asthma to MDI
diphenylmethane-4,4'-diisocyanate allergic asthma
An isocyanates allergic asthma that has_allergic_trigger toluene meta-diisocyanate.
allergic asthma to TDI
toluene meta-diisocyanate allergic asthma
An isocyanates allergic asthma that has_allergic_trigger methyl isocyanate.
allergic asthma to MIC
An allergic asthma that has_allergic_trigger nickel atom.
allergic asthma to Ni
An allergic contact dermatitis that has_allergic_trigger nickel atom.
allergic contact dermatitis to Ni
An allergic asthma that has_allergic_trigger trimellitic anhydride.
allergic asthma to TMA
An allergic asthma that has_allergic_trigger phthalic anhydride.
An allergic asthma that has_allergic_trigger maleic anhydride.
allergic asthma to MA
An allergic asthma that has_allergic_trigger tetrachlorophthalic anhydride.
tetrachlorophthalic anhydride allergic asthma
An allergic asthma that has_allergic_trigger hexahydrophthalic anhydride.
allergic asthma to HHPA
hexahydrophthalic anhydride allergic asthma
An allergic contact dermatitis that has_allergic_trigger diphenylmethane-4,4-diisocyanate.
allergic contact dermatitis to MDI
diphenylmethane-4,4'-diisocyanate allergic contact dermatitis
An allergic contact dermatitis that has_allergic_trigger cobalt atom.
allergic contact dermatitis to Co
An allergic asthma that has_allergic_trigger cobalt atom.
Co allergic asthma
An allergic contact dermatitis that has_allergic_trigger palladium.
allergic contact dermatitis to Pd
An allergic contact dermatitis that has_allergic_trigger chromium atom.
An allergic contact dermatitis that has_allergic_trigger benzoic acid.
allergic contact dermatitis to benzoate
benzoic acid allergic contact dermatitis
An allergic contact dermatitis that has_allergic_trigger 1,4-phenylenediamine.
allergic contact dermatitis to PPD
allergic contact dermatitis to p-phenylenediamine
1,4-phenylenediamine allergic contact dermatitis
An allergic contact dermatitis that has_allergic_trigger potassium dichromate.
potassium dichromate allergic contact dermatitis
A photoallergic dermatitis that has_allergic_trigger ketoprofen.
photoallergic dermatitis to Orudis
A respiratory allergy that has_allergic_trigger remazole black-GR.
respiratory allergy to Reactive Black 5
A respiratory allergy that has_allergic_trigger chloramine T.
respiratory allergy to Chloraseptin
respiratory allergy to Chlorazol
respiratory allergy to Trichlorol
A respiratory allergy that has_allergic_trigger 4-vinylcyclohexene dioxide.
respiratory allergy to vinyl cyclohexene diepoxide
4-vinylcyclohexene dioxide respiratory allergy
An allergic contact dermatitis that has_allergic_trigger (-)-carvone.
allergic contact dermatitis to levo-carvone
A drug allergy that has_allergic_trigger quinidine.
Kinidin allergy
A drug allergy that has_allergic_trigger melphalan.
Alkeran allergy
An allergic contact dermatitis that has_allergic_trigger neomycin sulfate.
allergic contact dermatitis to neomycin sulphate
neomycin sulfate allergic contact dermatitis
An allergic contact dermatitis that has_allergic_trigger 4-tert-butylphenol.
allergic contact dermatitis to PTBP
allergic contact dermatitis to butylphen
4-tert-butylphenol allergic contact dermatitis
An allergic contact dermatitis that has_allergic_trigger 1-chloro-2,4-dinitrobenzene.
allergic contact dermatitis to DNCB
allergic contact dermatitis to dinitrochlorobenzene
1-chloro-2,4-dinitrobenzene allergic contact dermatitis
A drug allergy that has_allergic_trigger co-trimoxazole.
Bactrim allergy
TMP/SMX allergy
cotrimoxazol allergy
trimethoprim/sulfamethoxazole allergy
A drug allergy that has_allergic_trigger sodium aurothiomalate.
gold sodium thiomalate allergy
An allergic contact dermatitis that has_allergic_trigger parthenolide.
allergic contact dermatitis to feverfew
parthenolide allergic contact dermatitis
A drug allergy that has_allergic_trigger disodium cromoglycate.
DSCG allergy
An allergic contact dermatitis that has_allergic_trigger formaldehyde.
allergic contact dermatitis to formalin
formaldehyde allergic contact dermatitis
An allergic contact dermatitis that has_allergic_trigger benzo[d]isothiazol-3-one.
allergic contact dermatitis to BIT
allergic contact dermatitis to benzisothiazolone
benzo[d]isothiazol-3-one allergic contact dermatitis
A drug allergy that has_allergic_trigger phthalyl group.
phthalyl allergy
A drug allergy that has_allergic_trigger alcuronium bromide.
A drug allergy that has_allergic_trigger gallamine.
An allergic contact dermatitis that has_allergic_trigger 2,4-dinitrophenyl group.
allergic contact dermatitis to DNP
2,4-dinitrophenyl allergic contact dermatitis
A drug allergy that has_allergic_trigger patent blue V.
A respiratory allergy that has_allergic_trigger acid anhydride.
A drug allergy that has_allergic_trigger oxirane.
ETO allergy
ethylene oxide allergy
A bacterial pneumonia has_material_basis_in Chlamydia pneumoniae.
A bacterial pneumonia has_material_basis_in Streptococcus pneumoniae.
A bacterial infectious disease has_material_basis_in Bacteria.
A viral infectious disease has_material_basis_in BK polyomavirus.
PVAN
polyomavirus associated nephropathy
An autoimmune disease of peripheral nervous system that results in peripheral neuropathy.
An autoimmune disease of eyes, ear, nose and throat that is located_in the uvea.
An autoimmune disease of peripheral nervous system that is located_in the neuron projection bundle connecting eye with brain.
An autoimmune disease of gastrointestinal tract that is located_in the stomach.
An autoimmune disease of endocrine system that is located_in the pancreas.
An autoimmune disease of musculoskeletal system that is an ankylosing spondylitis with onset during childhood.
A lupus erythematosus caused by chronic use of certain drugs.
DIL
DILE
An autoimmune disease of urogenital tract that is located_in the renal glomerulus.
An autoimmune disease of cardiovascular system that is characterized by deterioration of the function of the heart muscle.
An autoimmune disease of cardiovascular system that is characterized by a build up of plaque in the arteries.
An autoimmune disease of cardiovascular system that is characterized by inflammation of the blood vessels.
A pemphigus that is characterized by blistered skin as a result of self-reactive T and B cells that target BP180.
livedoid vasculopathy
An autoimmune disease of endocrine system characterized by hypoglycemia caused by antibodies to insulin.
insulin autoimmune syndrome
An allergic contact dermatitis that has_allergic_trigger N,N-diphenylthiourea.
neoprene allergy
N,N'-diphenylthiourea allergic contact dermatitis
An allergic contact dermatitis that has_allergic_trigger N,N-diethylthiourea.
N,N'-diethylthiourea allergic contact dermatitis
A cephalosporin allergy that has_allergic_trigger cefotiam.
A toluene meta-diisocyanate allergic asthma that has_allergic_trigger toluene 2,4-diisocyanate.
toluene 2,4-diisocyanate allergic asthma
A gonococcal seminal vesiculitis that is characterized by back pain, perineal pain, pain with ejaculation, hematospermia and voiding symptoms resulting from inflammation located_in the seminal vesicles caused by Neisseria gonorrhoeae infection.
A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus, which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash.
Chikungunya fever
An ehrlichiosis that results in infection located in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted by lone star tick (Amblyomma americanum). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash.
human granulocytic ehrlichiosis
HGE
An ehrlichiosis that results in infection located in monocyte or located in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted by black-legged tick (Ixodes scapularis), transmitted by western black-legged tick (Ixodes pacificus) or transmitted by castor bean tick (Ixodes ricinus). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash.
Ehrlichiosis chafeensis
An acquired metabolic disease that is characterized by abnormal mineral metabolism.
A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash.
Rickettsia africae spotted fever
south african tick-bite fever
A spotted fever that has_material_basis_in Rickettsia conorii subsp caspia, which is transmitted_by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities.
A spotted fever that has_material_basis_in Rickettsia conorii subsp indica, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities.
A spotted fever that has_material_basis_in Rickettsia conorii subsp israelensis, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities.
Israeli spotted fever
A spotted fever that has_material_basis_in Rickettsia heilongjiangensis, which is transmitted_by ticks (Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy.
Rickettsia heilongjiangensis spotted fever
A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy.
Thai tick typhus
FISF
A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities.
Rickettsia japonica spotted fever
oriental spotted fever
A spotted fever that has_material_basis_in Rickettsia parkeri, which is transmitted_by Gulf Coast tick (Amblyomma maculatum). The infection has_symptom fever, has_symptom headache, has_symptom eschar, and has_symptom rash.
maculatum infection
A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash.
Tick typhus
Brazillian spotted
Choix
Exanthematic typhus of Sao Paulo
Fiebre maculosa
Fiebre manchada
Sao Paulo typhus
So Paulo fever
Tobia fever
A gastrointestinal anthrax that results in infection located in mucosa of oropharynx, has_material_basis_in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite.
A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Erysipelothrix rhusiopathiae, which is transmitted_by contact with infected animals. The infection has_symptom redness of skin, has_symptom tenderness of skin and has_symptom warmth of skin.
A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in Chrysosporium parvum or Emmonsia crescens.
An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage.
A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency.
A dermatophytosis that results_in fungal infection which effects horny layer of epidermis of the bearded areas located_in face or located_in neck, has_material_basis_in Trichophyton mentagrophytes or has_material_basis_in Trichophyton verrucosum, which also effects hair, and effects nail and has_symptom inflammatory kerion-like plaques, and results_in_formation_of noninflammatory superficial perifollicular pustules.
dermatophytosis of beard
A tinea capitis that results_in fungal infection located_in cuticle of hair, has_material_basis_in Microsporum canis, has_material_basis_in Microsporum gypseum, has_material_basis_in Trichophyton equinum, and has_material_basis_in Trichophyton verrucosum, which produce arthroconidia on the exterior of the hair shaft.
A tinea capitis that results_in fungal infection located_in hair, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which produce arthroconidia within the hair shaft only.
A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition.
A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions.
infectious disease
A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus, which is transmitted_by treehole mosquito, Ochlerotatus triseriatus. The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis.
California Encephalitis
California virus encephalitis
Neuroinvasive California encephalitis virus infection
A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages.
haemophagocytic syndrome
Xref MGI. MESH:C537250 added from NeuroDevNet [WAK].
A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth.
DSS
A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip.
A diarrhea where there is an increase in the active secretion, or there is an inhibition of absorption causing little to no structural damage. The most common cause of this type of diarrhea is a cholera toxin that stimulates the secretion of anions, especially chloride ions.
A dirrhea that occurs when too much water is drawn into the bowels. This can be the result of maldigestion (e.g., pancreatic disease or Coeliac disease), in which the nutrients are left in the lumen to pull in water. Osmotic diarrhea can also be caused by osmotic laxatives (which work to alleviate constipation by drawing water into the bowels). In healthy individuals, too much magnesium or vitamin C or undigested lactose can produce osmotic diarrhea and distention of the bowel. A person who does not have lactose intolerance can have difficulty absorbing lactose after an extraordinarily high intake of dairy products.
A diarrhea which is caused by the rapid movement of food through the intestines (hypermotility). If the food moves too quickly through the GI tract, there is not enough time for sufficient nutrients and water to be absorbed.
A gastrointestinal system infectious disease involving diarrhea that occurs when there is damage to the mucosal lining or brush border, which leads to a passive loss of protein-rich fluids, and a decreased ability to absorb these lost fluids. It can be caused by bacterial infections, viral infections, parasitic infections, or autoimmune problems such as inflammatory bowel diseases. It can also be caused by tuberculosis, colon cancer, and enteritis.
A fungal infectious disease that results_in infection of the outermost layer located_in skin or located_in hair shaft, has_material_basis_in Fungi. No living tissue is invaded and there is no cellular response from the host.
Steroid-modified tinea infection
piedra
A fungal infectious disease that results_in infection of the keratinized layers located_in skin, located_in hair or located_in nail, which extends deeper into the epidermis, has_material_basis_in Fungi and results_in_formation_of skin lesions.
A fungal infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Fungi, which penetrate the dermis or even deeper during or after a skin trauma.
A fungal infectious disease that results_in infection of internal organs and tissues located_in human body, has_material_basis_in Fungi, which enter the body via the respiratory tract, through the gut, paranasal sinuses or skin and spread through the bloodstream to multiple organs.
An elephantiasis that is characterized by lymphadema located_in the lower extremities caused by a genetically determined abnormal inflammatory reaction to mineral particles in irritant red clay soils derived from volcanic deposits.
A diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide.
A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) in adults, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by ingestion of bacterial spores, which then grow in the intestine and release toxins.
A dengue disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has no manifestations of symptoms.
A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development.
Kartagener's syndrome
An upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. It occurs primarily in children and may be secondary to an allergy, infection of nose or throat and an obstruction of the eustachian tube. The infection has symptom pain, has symptom redness, has symptom swelling, and has symptom difficulty swallowing.
chronic adenoiditis
An otitis externa which is a disease of the ear produced by the growth of fungi in the external auditory canal. It is characterized by inflammation, pruritus, scaling and severe discomfort. The most common fungi are Aspergillus niger and Candida albicans.
Singapore ear
An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe.
A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days.
A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough.
An aspergillosis that presents as a clump of tangled mass of Aspergillus fungus fibres, blood clots, and white blood cells, which exists in the cavities of the lungs that develop in an area of previous lung disease or lung scarring.
A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell).
A pulmonary fibrosis that is characterized by scarring of the lung.
FIBROCYSTIC PULMONARY DYSPLASIA
IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL
cryptogenic fibrosing alveolitis
An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope.
BOOP
Cryptogenic organising pneumonitis
Cryptogenic organizing pneumonitis
bronchiolitis obliterans organising pneumonia
bronchiolitis obliterans organizing pneumonia
cryptogenic organising pneumonia
idiopathic bronchiolitis obliterans with organising pneumonia
idiopathic bronchiolitis obliterans with organizing pneumonia
An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation.
RBILD
familial desquamative interstitial pneumonitis
respiratory bronchiolitis-associated interstitial lung disease
An idiopathic interstitial pneumonia which involves diffuse interstitial infiltration of involved areas mostly with T lymphocytes, plasma cells, and macrophages. Lymphoid hyperplasia is frequently seen. Onset is often slow with gradually increasing cough and breathlessness over 3 or more years. Fever, weight loss, chest pain, and arthralgia are occasionally found. Crackles may be detected as the disease progresses.
An anthrax disease that results in infection located in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches.
pulmonary anthrax
respiratory anthrax
wool-sorters' disease
woolsorters' disease
A respiratory system disease which involves the lower respiratory tract.
An urogenital tuberculosis that results_in formation of granulomas located_in fallopian tube.
An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.
Autoimmune Polyglandular Syndrome I
Whitaker syndrome
autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
autoimmune polyendocrine syndrome type 1
An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene.
Schmidt syndrome
autoimmune polyendocrine syndrome type 2
A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight.
A West Nile encephalitis that results_in infection located_in brain, has_material_basis_in Kunjin virus, a subtype of West Nile Virus, which is transmitted_by Culex annulirostris mosquito bite. The infection has_symptom fever, has_symptom rigor, has_symptom headache, has_symptom confusion, and has_symptom lethargy.
A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus, which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis.
Central European encephalitis
Far Eastern TBE
Russian spring-summer encephalitis
Siberian tick-borne encephalitis
Taiga encephalitis
Western European tick-borne encephalitis
west-Siberian encephalitis
A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus, which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma.
A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness.
A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Nipah virus, which is transmitted_by direct contact with sick person or animals, or their contaminated tissues. The infection has_symptom dizziness, has_symptom drowsiness, has_symptom altered consciousness, has_symptom disorientation, and has_symptom coma.
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations.
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Machupo virus, which is transmitted_by vesper mouse, Calomys callosus. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom myalgia, has_symptom arthralgia, has_symptom bleeding from the oral and nasal mucosa, and has_symptom bleeding from the bronchopulmonary, gastrointestinal and genitourinary tracts.
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Guanarito virus, which is transmitted_by cotton rat, Sigmodon alstoni or transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia.
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Sabia virus, which is transmitted by rodents. The infection has symptom fever, has symptom eye redness, has symptom fatigue, has symptom dizziness, has symptom muscle aches, has symptom loss of strength, and has symptom bleeding under the skin, internal organs, or from body orifices like the mouth, eyes or ears.
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Chapare virus. The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom shock, and has symptom bleeding.
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Whitewater Arroyo virus, which is transmitted_by white-throated woodrats (Neotoma albigula). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, and has_symptom hemorrhagic manifestations.
A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload.
A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Puumala virus, which is transmitted_by bank vole, Myodes glareolus [NCBITaxon:447135]. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure.
A viral infectious disease that results_in infection, has_material_basis_in Lujo virus, which has_symptom bleeding.
A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice.
An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea.
A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal.
Eaton-Lambert syndrome
LEMS
Lambert-Eaton syndrome
An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver.
human polycystic hydatid disease
neotropical echinococcosis
A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies.
A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma.
Naegleria fowleri infection
A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death.
Acanthamoeba encephalitis
Acanthamoeba granulomatous encephalitis
Granulomatous Amebic Encephalitis due to Acanthamoeba
granulomatous amoebic encephalitis
A parasitic helminthiasis infectious disease that involves parasitic infection of the eyes by Philophthalmus species. External ocular philophthalmiasis manifests as follicular conjunctivitis and superficial keratitis. Sub-conjunctival ocular philophthalmiasis consists of a mild edema with minimal cellular reaction.
A parasitic helminthiasis infectious disease that involves infection by metacestode larval stage (coenurus) of Taenia multiceps or Taenia serialis. Coenuri in the skin or subcutaneous tissue present as painless nodules, which manifest on the trunk, sclera, subconjuctiva, neck, shoulders, head and limbs. Coenuri in the central nervous system may cause headache, fever, vomiting, nerve palsies, jacksonian epilepsy, pachymeningitis, obstructive or communicating hydrocephalus, and intracranial arteritis with transient hemiparesis. Coenuri in the eye cause both intraocular and orbital infections.
A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting.
A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools.
A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis.
A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine caused by the larvae of Baylisascaris procyonis, which can invade the spinal cord, brain, and eye of humans, resulting in permanent neurologic damage, blindness, or death.
A parasitic helminthiasis infectious disease that involves parasitic infection by the nematode Dioctophyme renale in humans after eating undercooked food. The larvae are found in the subcutaneous nodules and kidneys.
A parasitic helminthiasis infectious diseasea that involves infection of the eyes in humans by nematode Thelazia callipaeda causing varying degrees of inflammation and lacrimation. In heavier infections, photophobia, edema, conjunctivitis, and blindness occurs.
A parasitic ectoparasitic infectious disease that is an inflammatory skin disease caused by the parasitic infestation of the female chigoe flea, Tunga penetrans in animals and humans. The symptoms include skin inflammation, severe pain, itching, and a lesion at the site of infection that is characterized by a black dot at the center of a swollen red lesion, surrounded a white halo.
A myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain.
A trichomoniasis that involves infection of the urogenital tract, has_material_basis_in Trichomonas vaginalis, which is transmitted through sexual contact. Symptoms include inflammation of the cervix, urethra and vagina which produce an itching or burning sensation, and yellow-green, itchy, frothy foul-smelling vaginal discharge.
urogenital trichomonas
A trichomoniasis that is caused by a singled-celled protozoan parasite Trichomonas tenax, which is transmitted through oral droplets, by kissing, or on fomites such as eating utensils. Trichomonas tenax causes periodonitis and bronchopulmonary trichomoniasis by aspiration from the oropharynx.
A subcutaneous mycosis that involves a chronic inflammatory or granulomatous fungal infection of the subcutaneous tissue of the limbs, chest, back or buttocks caused by Basidiobolus ranarum. Lesions appear as subcutaneous nodules which develop into massive, firm, indurated, painless swellings which are freely movable over the underlying muscle, but are attached to the skin which may become hyperpigmented but not ulcerated.
An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions.
An opportunistic mycosis that has_material_basis_in Penicillium marneffei, results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions.
An opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by Fusarium solani or Fusarium oxysporum. Skin lesions are seen in neutropenic patients, and indolent cellulitis or soft-tissue necrosis occur in immunocompromised patients at the site of trauma.
An opportunistic mycosis that results_in disseminated infection, has_material_basis_in Trichosporon and results_in_formation_of nontender erythematous nodules anywhere on the body.
A parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals.
parasitic Ichthyosporea infectious disease
A systemic mycosis that results_in infection located_in human body, has_material_basis_in Fungi, which can overcome the physiological and cellular defences of the normal human host. The primary deep pathogens usually gain access to the host via the respiratory tract.
A refractive error that is characterized by the significant difference in perceived sizes of an object between the two eyes.
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus, which is transmitted by Ornithodoros savignyi tick bite, transmitted by ingestion of unpasteurized camel milk, or transmitted by entry via skin wound. The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom thrombocytopenia, and has symptom hemorrhagic fever.
A hypothyroidism that is present at birth.
Xref MGI. OMIM mapping confirmed by DO. [SN].
A syndrome that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes.
LEVY-HOLLISTER SYNDROME
lacrimoauriculodentodigital syndrome
A vestibular disease that is characterized by progressive hearing loss resulting from congenital enlargement of the vestibular aqueducts.
A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions; can have material basis in mutations in the RGS9 or the R9AP genes.
prolonged electroretinal response suppression
A phosphorus metabolism disease that is characterized by hypophosphatemia and the symptoms of osteomalacia including bone pain, skeletal deformities and osteoarthritis.
A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread.
A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder.
A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised.
opportunistic bacterial infectious disease
A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), which are transmitted by ingestion of food contaminated with preformed toxins, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. The infection has symptom blurred vision, has symptom diplopia, has symptom dysarthria, has symptom dysphonia, has symptom dysphagia and has symptom descending muscle paralysis.
A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by contact of spores with the open wounds, which then reproduce in an anaerobic environment to produce toxins.
A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness.
A tularemia that results_in swelling of regional lymph glands.
A tularemia that results_in bacteremia and has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom malaise, and has_symptom weight loss.
A hereditary renal cell carcinoma that has_material_basis_in a loss of 3p13-pter sequences.
A bartonellosis that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed.
Carrion disease
Oroya fever
A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency.
C3 INACTIVATOR DEFICIENCY
COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY
An intestinal disease that has_material_basis_in mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer.
adenomatous polyposis of the colon
A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them.
WED
Willis-Ekbom disease
Wittmaack-Ekbom syndrome
A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection.
A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair.
A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles.
Thost-Unna Syndrome
Unna-Thost Syndrome
diffuse nonepidermolytic palmomplantar keratoderma
tylosis
nonepidermolytic palmoplantar keratoderma
A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin.
BENIGN CHRONIC PEMPHIGUS
Pemphigus, Benign Familial
A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.
MEN2A
Sipple syndrome
multiple endocrine neoplasia II
An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle.
ARVC
ARVC cardiomyopathy
ARVD
arrhythmogenic right ventricular dysplasia
arrhythmogenic right ventricular dysplasia/cardiomyopathy
arrhythmogenic right ventricular cardiomyopathy
An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development.
Multiple OMIM IDs are susceptibility terms [LS]
A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain.
A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly.
ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
Andersen syndrome
LQT7
Long QT syndrome 7
Potassium-Sensitive Cardiodysrhythmic Type
A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the TRIM37 gene.
MUL
Mulibrey growth disorder
Muscle-Liver-Brain-Eye Nanism
PERICARDIAL CONSTRICTION AND GROWTH FAILURE
Perheentupa Syndrome
A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene.
ANTOPOL DISEASE
PSEUDOGLYCOGENOSIS II
A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene.
A syndrome characterized by a combination of hearing loss and visual impairment.
Xref MGI. OMIM mapping confirmed by DO. [LS].
A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.
Dunnigan Syndrome
Koberling-Dunnigan Syndrome
A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes.
Sulfatidosis, Juvenile, Austin Type
multiple sulfatase deficiency disease
A peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secondary to mutation in the PEX genes.
infantile phytanic acid storage disease
A rickets has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization.
Hypophosphatemia, Vitamin D-Resistant Rickets
Vitamin D-Resistant Rickets, X-Linked
X-linked hypophosphatemia
hypophosphatemic rickets X-linked dominant
X-linked dominant hypophosphatemic rickets
A skin disease characterized by a defect in the normal process of keratinization of the mucosa.
hereditary mucosal leukokeratosis
white sponge nevus of Cannon
2023 nomenclature update to white sponge nevus.
A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis_in gene mutations that result in changes in keratin.
Jackson-Lawler Type Pachyonychia Congenita
Jadassohn-Lewandowsky Syndrome
PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE
Pachyonychia Congenita Type 1
A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting).
HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA
A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.
Bangungut
Brugada type idiopathic ventricular fibrillation
Dream disease
Pokkuri death syndrome
SUNDS
sudden unexplained nocturnal death syndrome
A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis.
Mevalonate Kinase Deficiency
A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation.
A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain.
periventricular heterotopia
A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin.
Bairnsdale ulcer
Daintree ulcer
Mossman ulcer
Searl ulcer
Searle's ulcer
A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development.
DEL CASTILLO SYNDROME
Germinal Cell Aplasia
A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes.
A phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnomral phosphorus metabolism and has_material_basis_in mutations in the FGF23, GALNT3 or KL gene.
A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3.
4p deletion syndrome
PITT SYNDROME
Pitt-Rogers-Danks Syndrome
chromosome 4p16.3 deletion syndrome
A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins.
aspartylglucosaminidase deficiency
aspartylglycosaminuria
glycosylasparaginase deficiency
An Antley-Bixler syndrome that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene.
trapezoidocephaly-synostosis syndrome
Antley-Bixler syndrome with disordered steroidogenesis
An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles.
Acampomelic Campomelic Dysplasia
A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition.
Farber disease
N-laurylsphingosine deacylase deficiency
acid ceramidase deficiency
A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes.
A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects.
A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis.
Erythrokeratodermia Figurata Variabilis
Greither Disease
A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached.
A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays.
FCS SYNDROME
Faciocutaneoskeletal Syndrome
A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor.
Leprechaunism
A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity.
Carney Complex, Type 1
Carney Complex, Type 2
Carney Syndrome
Carney complex variant
LAMB Syndrome
NAME Syndrome
A hair disease that is characterized by short, easily broken hair that results in alopecia and has_material_basis_in mutations in genes for type II hair cortex keratins.
A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene.
A skin disease that is characterized by chronic skin inflammation, trichorrhexis invaginata, atopic dermatitis and has_material_basis_in mutations in the SPINK5 gene resulting in reduced capacity to inhibit serine proteases expressed in the skin.
A syndrome characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.
GEMSS syndrome
Marchesani-Weill Syndrome
Mesodermal Dysmorphodystrophy, Congenital
Spherophakia Brachymorphia Syndrome
congenital mesodermal dystrophy
A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin.
3-methylglutaconicaciduria type 2
3-methylglutaconicaciduria type II
MGA Type 2
MGA type II
A renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel.
Liddle's syndrome
Pseudoaldosteronism
A typhus that has_material_basis_in Rickettsia prowazekii, which is transmitted by human body louse (Pediculus humanus corporis). The infection has_symptom high fever, has_symptom cough, has_symptom rash, has_symptom severe muscle pain, has_symptom chills, has_symptom falling blood pressure, has_symptom stupor, has_symptom sensitivity to light, and has_symptom delirium.
sylvatic typhus
A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted by fleas (Xenopsylla cheopis). The infection has symptom headache, has symptom fever, has symptom chills, has symptom myalgia, has symptom nausea, has symptom vomiting, has symptom cough and has symptom rash.
Rat-Flea Typhus
Rickettsia felis spotted fever
Urban Typhus of Malaya
cat flea rickettsiosis
fleaborne typhus
murine typhus
toulon typhus
urban typhus
Shop typhus
A spotted fever that has_material_basis_in Rickettsia helvetica, which is transmitted_by ticks (Ixodes sp). The infection has_symptom fever, has_symptom headache, has_symptom myalgia.
Rickettsia helvetica spotted fever
A primary bacterial infectious disease that results_in infection, has_material_basis_in Neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia.
Sennetsu ehrlichiosis
A skin disease that is characterized by a rash that results from a variety of causes including bacteria, viruses, toxins, drugs and autoimmune disorders.
An exanthem that is characterized by a diffuse, reddened, blanchable, finely papular, sandpaper like rash due to infection by group A streptococcus and the production of an erythrogenic toxin.
A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis.
A goiter characterized by a multinodular enlargement of the thyroid gland.
A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has_symptom irritability, has_symptom difficulty concentrating, has_symptom deterioration of memory, has_symptom defective judgment, has_symptom headaches, has_symptom insomnia, has_symptom fatigue, and has_symptom lethargy.
A tertiary neurosyphilis that results in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has _symptom poor concentration, has_symptom memory loss, has _symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries.
A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human herpesvirus 6 or has_material_basis_in Human herpesvirus 7 and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck.
Roseola Infantum
Sixth Disease
A smallpox that results_in severe infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions.
A paralytic poliomyelitis that results in destruction located in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, and has symptom paralysis of arms and legs.
A paralytic poliomyelitis that results in destruction located in motor neurons of brainstem or located in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, has symptom difficulty swallowing, and has symptom paralysis of arms and legs.
A poliomyelitis that results in destruction located in motor neurons of central nervous system, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis.
A viral infectious disease that results_in infection located_in joint, has_material_basis_in Onyong-nyong virus, which is transmitted_by Anopheles gambiae, and transmitted_by Anopheles funestus mosquitoes. The infection has_symptom fever, has_symptom arthralgia, has_symptom rash, and has_symptom lymphadenitis.
A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus, which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash.
A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus, which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash.
Ross River virus disease
A viral infectious disease that results in infection, has_material_basis_in Oropouche virus, which is transmitted by biting midge, Culicoides paraensis. The infection has symptom fever, has symptom chills, has symptom headache, has symptom anorexia, has symptom muscle pain, has symptom joint pain, and has symptom vomiting.
A hemorrhagic fever with renal syndrome that results in infection located in kidney, has_material_basis_in Dobrava-Belgrade virus , which is transmitted by yellow-necked field mouse, Apodemus flavicollis. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure.
A T-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1 (HTLV-1), which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions.
Adult T-cell leukemia/lymphoma (HTLV-1 positive)
adult T-cell leukemia
A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects.
MODY
Mason-type diabetes
A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs.
autosomal recessive neuromyotonia and axonal neuropathy
myokymia, myotonia and muscle wasting
A syndrome that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene.
AMISH BRITTLE HAIR BRAIN SYNDROME
BIDS syndrome
HAIR-BRAIN SYNDROME
A spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons.
SMA4
SPINAL MUSCULAR ATROPHY, ADULT FORM
SPINAL MUSCULAR ATROPHY, TYPE IV
spinal muscular atrophy 4
A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons.
MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM
MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE
SMA II
SMA2
spinal muscular atrophy 2
spinal muscular atrophy type II
A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves.
congenital essential nyctalopia
A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina.
FEVR
familial exudative vitreoretinopathy
A cataract that is characterized by a distinctive discoid lens opacity situated posteriorly and adjacent to the posterior capsule.
CATARACT, POSTERIOR POLAR
A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons.
hereditary motor and sensory neuropathy type 1
A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.
hereditary motor and sensory neuropathy Guadalajara neuronal type
hereditary motor and sensory neuropathy Okinawa type
hereditary motor and sensory neuropathy type 2
See OMIM:604484 Okinawa type is CMT type 2.
A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination.
DEJERINE-SOTTAS NEUROPATHY
DEJERINE-SOTTAS SYNDROME
A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance.
hereditary motor and sensory neuropathy
A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene.
A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s.
Charcot-Marie-Tooth disease dominant intermediate
Charcot-Marie-Tooth disease recessive intermediate
Charcot-Marie-Tooth disease intermediate type
An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body.
A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.
heterotaxia
situs ambiguus
An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase.
ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
P450scc DEFICIENCY
A thyroid gland medullary carcinoma that has_material_basis_in autosomal dominant inheritance.
THYROID CARCINOMA, FAMILIAL MEDULLARY
A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages.
familial dysautonomia, type II
hereditary sensory and autonomic neuropathy
A syndrome characterized by congenital heart defects, failure to thrive, short stature, cognitive dysfunction, pectus excavatum, coagulation defects and craniofacial defects and that has_material_basis_in the mutation in the Ras/mitogen activated protein kinase.
type I short rib polydactyly syndrome
A syndrome that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PSMB8 on chromosome 6p21.32.
JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY
A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene.
Anemia sideroblastic and spinocerebellar ataxia
X-linked sideroblastic anaemia and ataxia
X-linked sideroblastic anaemia with ataxia
X-linked sideroblastic anemia and ataxia
X-linked sideroblastic anemia with ataxia
A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.
A congenital muscular dystrophy that is characterized by muscle weakness and respiratory depression and has_material_basis_in mutation in the COL6A1, COL6A2 and COL6A3 that produce components of type VI collagen.
ULLRICH DISEASE
Ullrich scleroatonic muscular dystrophy
A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein.
A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1.
HARD syndrome
cerebroocular dysplasia-muscular dystrophy syndrome
A childhood electroclinical syndrome that is characterized by frequent seizures and intellectual disability that present in early childhood.
Lennox syndrome
An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability.
Infantile spasms syndrome
An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms.
nonsyndromic hearing loss
nonsyndromic hereditary hearing loss
A nonsyndromic deafness characterized by an autosomal dominant inheritance mode.
autosomal dominant deafness
autosomal dominant nonsyndromic deafness
A nonsyndromic deafness characterized by an autosomal recessive inheritance mode.
OMIM:607197 is an older phenotype record for this disease.
autosomal recessive nonsyndromic deafness
A nonsyndromic deafness characterized by an X-linked inheritance mode.
X-linked deafness
A physical disorder that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development.
A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together.
Jarcho-Levin syndrome
costovertebral dysplasia
spondylothoracic dysostosis
spondylothoracic dysplasia
A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability.
Harper's syndrome
Virchow-Seckel dwarfism
bird-headed dwarfism
microcephalic primordial dwarfism
A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins.
congenital disorder of glycosylation type I
A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain.
congenital disorder of glycosylation type II
A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells.
cone-rod retinal dystrophy
An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage.
An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia).
L-2-HYDROXYGLUTARIC ACIDEMIA
An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory.
A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease.
Loken Senior syndrome
renal-retinal syndrome
A syndrome that is characterized by characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies.
Levin syndrome
A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings.
A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has_material_basis_in mutation in the GYG1 gene that encodes glycogenin-1.
glycogen storage disease type XV
A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system.
A dysostosis characterized by short fingers and toes.
A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ.
A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance.
An impulse control disorder that involves the uncontrollable plucking of ones hair.
A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase.
CMD due to dystroglycanopathy
muscular dystrophy-dystroglycanopathy type B1
An intestinal disease characterized by inflammation located in all parts of digestive tract.
A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.
A tooth disease characterized by failure to develop one or more missing teeth.
familial tooth agenesis
hypodontia
oligodontia
selective tooth agenesis
A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.
Jeune syndrome
short-rib thoracic dysplasia with or without polydactyly
thoracic pelvic phalangeal dystrophy
A glaucoma that is characterized by damage to the optic nerves that reduces peripheral vision and leads to blindness, has_material_basis_in mutation in the MYOC gene and appears before the age of 5 without other associated abnormalities.
A glycogen storage disease characterized by deficiency of hepatic phosphorylase kinase activity.
A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted by ingestion of undercooked contaminated meat.
Beef tapeworm infection
Infection by Taeniarhynchus saginatus
Taenia saginata infectious disease
A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia.
Katayama fever
Schistosoma japonicum infection
Schistosoma mansoni infectious disease
schistosomiasis japonica
A tuberculosis that occurs at body sites other than the lung.
An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas.
A syndrome that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB).
ABCDS
albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness
A syndrome that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63.
acro-dermato-ungual-lacrimal-tooth syndrome
A syndrome characterized by achalasia, adrenal insufficiency and alacrima and has_material_basis_in mutations in the AAAS gene that encodes ALADIN within the nuclear envelope and results in dysfunction of the autonomic nervous system.
AAAS
Achalasia-Addisonianism-Alacrimia syndrome
Allgrove Syndrome
An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene.
Acheiropodia
Horn-Kolb Syndrome
An osteochondrodysplasia characterized by skeletal dysplasia, bradydactyly and narrow thorax and has_material_basis_in mutations in the Indian hedgehog homolog gene.
A metal metabolism disorder characterized by dermatitis around bodily openings and the tips of fingers and toes, alopecia and diarrhea and has_material_basis_in mutation in the SLC39A4 gene that encodes a zinc uptake protein and results in zinc deficiency.
A keratosis that has_material_basis_in mutations in the ATP2A2 gene.
Acrokeratosis verruciformis of Hopf
Hopf disease
An Ewing sarcoma that arises from the soft tissues of the chest wall that tend to recur locally and not widely disseminated.
Askin tumor
Askin tumour
Askin's tumour
An in situ carcinoma of the oral cavity that is located_in the epithelium. It is the most common cause of leukoplakia and associated with the development of squamous cell carcinoma.
An in situ carcinoma of the pharynx that is located_in the epithelium. It is associated with the development of squamous cell carcinoma.
An in situ carcinoma located_in the surface epithelium of the gallbladder that most commonly develops into adenocarcinoma.
An in situ carcinoma located_in the surface epithelium of the bile duct that most commonly develops into adenocarcinoma.
An in situ carcinoma located_in the bronchus that most commonly develops into adenocarcinoma.
An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract.
A respiratory system cancer that is located_in the paranasal sinuses.
Epidermoid carcinoma of the paranasal sinus
Mucoepidermoid carcinoma of Accessory sinus
adenoid cystic carcinoma of Accessory sinus
paranasal sinus adenocarcinoma
paranasal sinus adenoid cystic carcinoma
paranasal sinus mucoepidermoid carcinoma
paranasal sinus squamous cell carcinoma
adenoid cystic carcinoma of paranasal sinus
squamous cell carcinoma of paranasal sinus
A renal pelvis transitional cell carcinoma located_in the transitional epithelium of the renal pelvis.
infiltrating renal pelvis transitional cell carcinoma
An organ system benign neoplasm that is located in the respiratory system which extends from the nasal sinuses to the diaphragm.
An organ system benign neoplasm that is located_in reproductive system organs.
A urinary system benign neoplasm located_in the bladder including papillomas, leiomyomas, fibromas, hemangiomas, neurofibromas and lipomas.
An organ system benign neoplasm located_in gastrointestinal tract organs.
A hepatobiliary benign neoplasm located_in the biliary tract.
extrahepatic bile duct neoplasm
neoplasm of extrahepatic bile ducts
tumor of the extrahepatic bile duct
A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells.
gastrointestinal neuroendocrine tumour
malignant gastrointestinal neuroendocrine tumor
malignant gastrointestinal neuroendocrine tumour
A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning.
familial advanced sleep-phase syndrome
A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections.
Cree encephalitis
An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has_material_basis_in mutation in the CACNA1F gene.
FORSIUS-ERIKSSON TYPE OCULAR ALBINISM
Forsius-Eriksson syndrome
A syndrome that has_material_basis_in mutation at is in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement.
AHDS
ALLAN-HERNDON SYNDROME
A syndrome characterized by abnormal pigmentation of the skin, hair and eyes.
An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis_in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin.
An alopecia characterized by the complete loss of hair on the scalp and body.
ALOPECIA UNIVERSALIS CONGENITA
A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body.
AHC
An amyloidosis that is characterized by the abdnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys.
AMYLOIDOSIS, FAMILIAL RENAL
German type amyloidosis
OSTERTAG TYPE AMYLOIDOSIS
systemic nonneuropathic amyloidosis
An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has_material_basis_in mutations in the gelsolin gene (GSN), and has_symptom corneal lattice dystrophy, has_symptom bilateral facial paralysis, has_symptom cutis laxa.
AMYLOIDOSIS, MERETOJA TYPE
An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene.
Amyloidosis, hereditary, transthyretin-related
Corino de Andrade's disease
Familial transthyretin amyloidosis
TTR amyloidosis
familial amyloid polyneuropathy
transthyretin-related hereditary amyloidosis
An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis.
PCA
familial primary localized cutaneous amyloidosis
An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.
spondylometaepiphyseal dysplasia, Menger type
A hemolytic anemia that is characterized by deficiency of Rh antigens, has_material_basis_in homozygous or compound heterozygous mutation in the RHAG gene on chromosome 6p12.
A microcytic anemia characterized by paler than normal blood cells.
A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall.
generalized arterial calcification of infancy
idiopathic infantile arterial calcification
infantile arteriosclerosis
A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta.
A muscle tissue disease characterized by congenital joint contractures of hand and feet.
Arthrogryposis Multiplex Congenita
An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene.
ARTS
Lethal ataxia with deafness and optic atrophy
MRXS18
MRXSARTS
fatal X-linked ataxia with deafness and loss of vision
syndromic X-linked mental retardation 18
syndromic X-linked mental retardation Arts type
An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns.
A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin (TF) on chromosome 3q22.
familial hypotransferrinemia
An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes.
ATFB
A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs.
AVCD
AVSD
ECD
atrioventricular canal defect
endocardial cushion defect
A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone.
A hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, has_material_basis_in homozygous mutation in the FKHL15 gene on chromosome 9q22.
HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE
A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that has_material_basis_in homozygous or compound heterozygous mutation in OCLN on chromosome 5q13.2.
BLC-PMG
BLCPMG
Baraitser-Brett-Piesowicz syndrome
Baraitser-Reardon syndrome
PTORCH1
band-like calcification with simplified gyration and polymicrogyria
bilateral band-like calcification with polymicrogyria
microcephaly-intracranial calcification-intellectual disability syndrome
A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23.
Bannayan-Zonana syndrome
Riley-Smith syndrome
Ruvalcaba-Myhre-Smith syndrome
A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.
KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
A basal ganglia disease that is characterized by recurrent subacute encephalopathy, has_symptom confusion, has_symptom seizure, has_symptom ataxia, has_symptom dystonia, has_symptom supranuclear facial palsy, has_symptom external ophthalmoplegia, and has_symptom dysphagia.
A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.
A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss.
Best disease
Best macular dystrophy
juvenile-onset vitelliform macular dystrophy
A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12.
autosomal recessive bestrophinopathy
A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene.
benign congenital muscular dystrophy
A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35.
Bietti's crystalline dystrophy
Bietti crystalline corneoretinal dystrophy
A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction.
A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure.
A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure.
ARND
static encephalopathy
alcohol-related neurodevelopmental disorder
A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure.
ARBD
A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements.
A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing.
hypotonic cerebral palsy
A breast cancer that develops from breast tissue in females.
A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions.
Athetoid Dyskinetic Cerebral Palsy
A cerebral palsy that is caused by injury to both the pyramidal and extra pyramidal areas of the brain, which results in both the tight muscle tone and the involuntary movements. The individual have difficulty with speaking and swallowing.
A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver.
3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
CBA
cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency
A syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has_material_basis_in heterozygous mutation in the KCNK9 gene on chromosome 8q24.
Birk-Barel mental retardation dysmorphism syndrome
A skin disease that is characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax, has_material_basis_in heterozygous mutation in the gene encoding folliculin (FLCN) on chromosome 17p11.
A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35.
BJS
PTD
deafness-pili torti-hypogonadism syndrome
A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene.
ARTHROCUTANEOUVEAL GRANULOMATOSIS
BLAUS
Jabs syndrome
An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance.
An osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, has_material_basis_in heterozygous mutation in the FLNB gene on chromosome 3p14.
An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene.
BFLS
BORJ
Borjeson syndrome
MRXSBFL
intellectual deficiency-epilepsy-endocrine disorders syndrome
mental retardation, epilepsy, and endocrine disorder
syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type
A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene.
NAVAJO BRAINSTEM SYNDROME
Athabaskan brainstem dysgenesis syndrome
A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has_material_basis_in mutation in RLBP1 gene.
Vasterbotten dystrophy
A syndrome that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has_material_basis_in homozygous mutation in the EMG1 gene on chromosome 12p13.
BWCNS
Bowen Hutterite syndrome
Bowen-Conradi Hutterite syndrome
A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.
Small cell carcinoma - intermediate cell
Small cell carcinoma, intermediate cell
intermediate cell small cell carcinoma
A cancer that is classified based on the organ it starts in.
A cancer that is classified by the type of cell from which it is derived.
A large intestine cancer that is located_in the terminal part of the large intestine.
A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.
An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature.
brachyrachia
A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts.
A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located in skeletal muscles.
A skin disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12.
BRSS
BSS
CYLD cutaneous syndrome
SBS
Spiegler-Brooke Syndrome
A syndrome that is characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth cranial nerves.
A pleural cancer that is located_in mesenchymal cells in the areolar tissue subjacent to the mesothelial-lined pleura.
malignant pleural solitary fibrous tumor
A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy.
A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection.
A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord.
A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene.
Dent disease 1
Dent disease 2
Dent's disease
A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.
Cardiomyopathies
MESH:D009202 added from NeuroDevNet [WAK].
An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep.
electro-clinical syndrome
An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.
neonatal period electroclinical syndrome
An electroclinical syndrome with onset in infancy occurring between birth and one year of age.
An electroclinical syndrome with onset in childhood between one and 12 years of age.
An electroclinical syndrome with onset in adolescence and adulthood.
adolescence-adult electroclinical syndrome
An electroclinial syndrome that is characterized by development of seizures later in life with a variable age of onset and duration.
variable age at onset electroclinical syndrome
A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years.
A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.
Early Infantile Epileptic Encephalopathy with Burst-Suppression
early infantile epileptic encephalopathy
An amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy.
3-Methylcrotonylglycinuria
3MCC deficiency
BMCC deficiency
3-methylcrotonyl-CoA carboxylase deficiency
An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus.
An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis.
CEREBRAL CREATINE DEFICIENCY SYNDROME 3
arginine glycine amidinotransferase deficiency
A mitochondrial metabolism disease that has_material_basis_in a deficiency of cytochrome c oxidase.
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
fatal infantile COX deficiency
fatal infantile cytochrome C oxidase deficiency
fatal infantile encephalocardiomyopathy
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency
A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase.
Cobalamin C deficiency
methylmalonic aciduria and homocystinuria type cblC
A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities.
Cobalamin D deficiency
methylmalonic aciduria and homocystinuria type cblD
A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) and that has_material_basis_in homozygous or compound heterozygous mutation in the LMBRD1 gene on chromosome 6q13.
Cobalamin F deficiency
methylmalonic aciduria and homocystinuria type cblF
An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism.
A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy.
cerebral folate receptor alpha deficiency
An amino acid metabolic disorder that has_material_basis_in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood.
HHH syndrome
Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome
An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine.
A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis.
PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid.
Phosphoserine aminotransferase deficiency
A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine.
PSPHD
Phosphoserine phosphatase deficiency
A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels.
Oculocutaneous tyrosinemia
Richner-Hanhart syndrome
A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body.
hepatorenal tyrosinemia
A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine.
A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen.
A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.
Chanarin-Dorfman syndrome
A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis.
COENZYME Q10 DEFICIENCY, PRIMARY
A vitamin metabolic disorder that results from low blood levels of vitamin B12.
cobalamin deficiency
hypocobalaminemia
A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTRR on chromosome 5p15 that causes inborn error of vitamin B12 metabolism.
methylmalonic aciduria and homocystinuria type cblE
A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTR gene on chromosome 1q43 that causes an inborn error of vitamin B12 metabolism.
methylmalonic aciduria and homocystinuria type cblG
A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption.
hereditary intrinsic factor deficiency
A monogenic disease that has_material_basis_in mutations in genes on the X chromosome.
An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.
An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
A monogenic disease that has_material_basis_in mutations on the Y chromosome.
A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation.
Dysharmonic skeletal maturation - muscular fibre disproportion
Qazi-Markouizos syndrome
A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.
alcoholism
A substance dependence that is characterized by a physical dependence on nicotine.
tobacco use disorder
A T-cell non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells.
NK-T cell lymphoma
mature T-cell and natural killer cell lymphoma
A non-Hodgkin lymphoma involving aberrant T-cells.
A B-cell lymphoma that is a cancer of B cells presenting as an aggressive tumour which can arise in virtually any part of the body.
A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles.
A B-cell lymphoma arising from the marginal zone of lymphoid tissues that is characterized by the presence of small to medium sized atypical lymphocytes.
marginal zone lymphoma
A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus.
A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp.
A T-cell acute lymphocytic leukemia that exhibits an unexplained, chronic (greater than 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood.
Large granular lymphocytic leukaemia
Large granular lymphocytic leukemia
T-cell large granular lymphocyte leukaemia
T-cell large granular lymphocyte leukemia
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20.
ALS8
amyotrophic lateral sclerosis 8
A hereditary ataxia that is characterized by ataxia originating in the cerebellum.
An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has_material_basis_in autosomal recessive inheritance of mutation in the APTX gene.
An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, oculomotor apraxia, cerebellar atrophy and elevated alpha-fetoprotein, has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.
A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria.
Deafness Dystonia Optic Atrophy Syndrome
Deafness Dystonia Optic Neuronopathy Syndrome
Dystonia Deafness Syndrome
Jensen syndrome
Mohr-Tranebjaerg syndrome
deafness dystonia syndrome
deafness-dystonia-optic neuronopathy syndrome
An acquired metabolic disease that characterized by excessive production of acid.
A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one.
A myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, has_material_basis_in mutation in the VMA21 gene on chromosome Xq28.
XMEA
X-linked myopathy with excessive autophagy
An amino acid metabolic disorder that is characterized by microcephaly, aggressive behavior, cerebellar hypoplasia and seizures, has_material_basis_in autosomal recessive inheritance of mutation in the ADSL gene resulting in adenylosuccinate lyase deficiency.
A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3.
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS
Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome
Arthrogryposis-renal dysfunction-cholestasis
A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28.
Armfield X-linked mental retardation syndrome
MRXSA
X-linked intellectual disability, Armfield type
mental retardation syndrome, X-linked, Armfield type
syndromic X-linked mental retardation Armfield type
A neurodegenerative disease that is characterized by characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders.
A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21.
Levine-Critchley syndrome
choreo-acanthocytosis
An osteochondrodysplasia that is characterized by hypertelorism, a wide nose, vertical midline cleft and encephalocele.
A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11.
MC5DN1
mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
A syndrome that is characterized by intellectual disability, deafness, ocular abnormalities, T-cell leukemia, cryptorchidism, hypospadias and spasticity.
NSX
A liver disease that is characterized by the presence of multiple cysts located_in the liver.
congenital cystic liver disease
congenital hepatic cyst
fibrocystic liver disease
An endocrine organ benign neoplasm that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones that cause either episodic or persistent high blood pressure.
phaeochromocytoma
A spastic ataxia characterized by early-onset cerebellar ataxia, spasticity, pyramidal syndrome and peripheral neuropathy, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the VAMP1 gene on chromosome 12p13.
A pheochromocytoma that arises in extraadrenal sympathetic ganglia.
chemodectoma
glomus body tumor
A syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24.
An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has_material_basis_in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p31.
A non-syndromic intellectual disability characterized by a X-linked inheritance pattern.
non-specific X-linked mental retardation
non-syndromic X-linked intellectual disability
A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.
JBTS
A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.
Meckel-Gruber syndrome
A syndrome characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation.
Salonen-Herva-Norio syndrome
A syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has_material_basis_in X-linked recessive or X-linked dominant mutation in the NAA10 gene on chromosome Xq28.
N-alpha-acetyltransferase
N-terminal acetyltransferase deficiency
OGDNS
X-linked Malformation and Infantile Lethality Syndrome
A syndrome that is characterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach.
A multiple sclerosis that is characterised by a worsening of disability, rather than by relapses followed by recovery, which progressively worsens until a steady progression of disability replaces the cycles of attacks.
SPMS
Secondary-progressive MS
secondary progressive multiple sclerosis
A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous.
PPMS
Primary-progressive MS
A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset.
PRMS
Progressive-relapsing MS
progressive relapsing multiple sclerosis
An iris disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene.
IGDS
IRID 1
IRID 2
iridogoniodysgenesis type 1
iridogoniodysgenesis type 2
A gastrointestinal system disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum.
A syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness.
Cushing's symphalangism
A dysostosis that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion.
An acromesomelic dysplasia that is characterised by severe reduction or absence of the fibula and complex brachydactyly.
Du Pan syndrome
fibular hypoplasia and complex brachydactyly
A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male.
persistent Muellerian duct syndrome
A vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions.
VMCM
mucocutaneous venous malformations
multiple cutaneous and mucosal venous malformations
A heart conduction disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart.
A dysostosis that is characterized by characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion.
A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.
retinal cone dystrophy
A syndrome that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections).
ACHALASIA-MICROCEPHALY SYNDROME
Achalasia microcephaly
A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.
Peroxisomal acyl-coenzyme A oxidase
An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the creatine transporter gene on chromosome Xq28.
A cerebral creatine deficiency syndrome that is characterized by severe intellectual disability, seizures, speech problems and involuntary movements, has_material_basis_in homozygous or compound heterozygous mutation in the GAMT gene on chromosome 19p13.
CEREBRAL CREATINE DEFICIENCY SYNDROME 2
GAMT deficiency
guanidinoacetate methyltransferase deficiency
A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the SLC6A8 gene on chromosome Xq28.
CEREBRAL CREATINE DEFICIENCY SYNDROME 1
SLC6A8 deficiency
An alopecia that is characterized by M-shaped hair line recession and thinning of hair at the crown of the head in males.
alopecia androgenetica, male pattern baldness
androgenetic alopecia
An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene.
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2
XGPT deficiency
defective biosynthesis of proteodermatan sulfate
xylosylprotein 4-beta-galactosyltransferase deficiency
Ehlers-Danlos syndrome spondylodysplastic type 2
A glioblastoma that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations.
A glioblastoma that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification.
A glioblastoma that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene.
A glioblastoma that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons.
A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene.
KHRZ
intellectual disability, Kahrizi type
intellectual disability-cataract-coloboma-kyphosis syndrome
A mucopolysaccharidosis characterized by a deficiency in hyaluronidase.
A nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth.
B7 deficiency
A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency.
adrenal hyperplasia 1
congenital lipoid adrenal hyperplasia
lipoid CAH
A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.
spondyloepimetaphyseal dysplasia Pakistani type
spondyloepimetaphyseal dysplasia, Pakistani type
A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints.
CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS
CHST3-Related Skeletal Dysplasia
Humero-spinal dysostosis with congenital heart disease
Kozlowski Celermajer Tink syndrome
Omani Type
Spondyloepiphyseal Dysplasia
humero-spinal dysostosis
humerospinal dysostosis
spondyloepiphyseal dysplasia with congenital joint dislocations
A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene.
PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE
A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding.
Ochoa syndrome
hydronephrosis with peculiar facial expression
An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.
STARGARDT DISEASE 1
A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII.
TCN2 deficiency
A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart.
AV block
An atrioventricular block that is characterized by prolonged PR interval on electrocardiogram caused by delayed conduction from atria to ventricles through the atrioventricular node.
An atrioventricular block that is characterized by progressive prolongation of the PR interval on consecutive beats followed by a blocked P wave on electrocardiogram or intermittently non-conducted P waves not preceded by PR changes on electrocardiogram caused by a conduction block between the atria and the ventricles through the atrioventricular node.
second-degree heart block
An atrioventricular block that is characterized by bradycardia, hypotension, hemodynamic instability and complete dissociation between P waves and QRS complexes on electrocardiogram caused when conduction fails to propagate from atria to ventricles.
complete AV block
A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm.
SA node
sinuatrial node
A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart.
A heart valve disease that is characterized by valvular insufficiency or valvular stenosis, located_in tricuspid valve between the right atrium and right ventricle.
RH. tricuspid valve disease
Rheumatic disease of tricuspid valve
Tricuspid disease
disease of tricuspid valve
rheumatic tricuspid valve disease
A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.
rheumatic carditis
A vascular disease that is located_in an artery.
A cardiovascular system disease that is located_in the fibrous sac surrounding the heart.
An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs.
A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern.
FENIB
familial encephalopathy with neuroserpin inclusion bodies
An inherited metabolic disorder involving dysfunction of pyrimidine metabolism.
A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine.
A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.
CHARGE association
A dystonia that affects most or all of the body.
familial dystonia
fragments of torsion dystonia
Dystonia 12
MESH:C538001 added from NeuroDevNet [WAK].
A dystonia that is localized to a specific part of the body.
A dystonia that involves two or more unrelated body parts.
A dystonia that affects two or more adjacent parts of the body.
A focal dystonia that is characterized by the failure of the pelvic floor muscles to relax during defecation.
A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards.
spasmodic torticollis
A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions.
organic writer's cramp
A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes.
A focal dystonia that is characterized by distortions of the mouth and tongue.
A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech.
laryngeal dystonia
A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck.
A multifocal dystonia that involves the arm and leg on the same side of the body.
A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep.
A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.
obstructive sleep apnea syndrome
An ampulla of Vater neoplasm that is characterized by glandular dysplastic lesion having pre-malignant potential.
A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes.
A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney.
An ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply.
A venous insufficiency that is characterized by lower extremity swelling, hyperpigmentation, pruritus and venous ulceration caused by blood pooling in the veins.
A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in NLRP3 on chromosome 1q44.
MWS
neutrophilic urticaria
A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function.
A specific developmental disorder that is characterized by a pattern of angry mood, defiant behavior and vindictiveness in children and adolescents.
A syndrome that is characterized by sensorineural hearing loss and ovarian failure.
A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.
A cystitis that is characterized by dysuria, hematuria and hemorrhage located_in the lower urinary tract.
An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum.
A colorectal carcinoma that derives_from epithelial cells of glandular origin.
A uterine disease that is characterized by inflammation of the uterus and is associated with pus in the uterine cavity.
An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by damage to the medium-sized blood vessels supplying the optic nerves following temporal arteritis.
arteritic anterior ischemic optic neuropathy
An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by acute ischemic damage to the optic nerve due to non-inflammatory small vessel disease.
non-arteritic anterior ischaemic optic neuropathy
nonarteritic anterior ischaemic optic neuropathy
nonarteritic anterior ischemic optic neuropathy
non-arteritic anterior ischemic optic neuropathy
A head and neck squamous cell carcinoma that is located_in the tongue.
An oral cavity cancer that has_material_basis_in squamous cells.
mouth squamous cell carcinoma
A liver benign neoplasm that is located_in liver cells and that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures.
An adenoma that is located_in the colon and other places in the gastrointestinal tract and sometimes in other parts of the body.
A lung carcinoma in situ that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern.
bronchioalveolar carcinoma
A connective tissue benign neoplasm composed of fibrous or connective tissues that derives_from mesenchymal tissue.
A lung large cell carcinoma that derives_from neuroendocrine cells.
A B-cell lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts).
A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts.
A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth.
partial pancreatic agenesis
A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA.
FXTAS syndrome
fragile X-associated tremor/ataxia syndrome
A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene.
17q21.31 microdeletion syndrome
KANSL1-related intellectual disability syndrome
KdVS
Koolen-De Vries syndrome
A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_material_basis_in mutation in the valosin containing protein.
IBMPFD
inclusion body myopathy with Paget's disease of bone and frontotemporal dementia
inclusion body myopathy with Paget disease of bone and frontotemporal dementia
An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_material_basis_in mutation in the SPTBN2 gene.
A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration.
infantile cerebellar-retinal degeneration
A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait.
Triose phosphate-isomerase deficiency
A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_material_basis_in heterozygous mutation in the CDKN1C gene.
intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities
A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene.
SPG20
autosomal recessive spastic paraplegia 20
autosomal recessive spastic paraplegia Troyer type
autosomal recessive spastic paraplegia type 20
childhood-onset spastic paraparesis with distal muscle wasting
hereditary spastic paraplegia 20
spastic paraplegia 20
spastic paraplegia type 20
A syndrome that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations.
An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.
An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms.
A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells.
Synucleinopathies
alpha Synucleinopathies
An adrenal adenoma that is a benign tumor of the adrenal cortex.
adrenocortical adenoma
A malignant pheochromocytoma that is characterized by overproduction of adrenaline.
A gallbladder benign neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder.
A cell type benign neoplasm that has_material_basis_in odontogenic epithelium.
A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone.
A bone carcinoma that derives_from squamous epithelial cells.
A chondrosarcoma that is located_in bone.
A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells.
A brain stem cancer that begins in the lower part of the brain on the floor of the skull.
A spinal chordoma that is located_in the sacrum.
A brain oligodendroglioma located_in the corpus callosum.
An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor.
CNS PNET
CPNET
brain medulloblastoma
infratentorial primitive neuroectodermal tumor
localized primitive neuroectodermal tumor
A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain.
A salivary gland cancer that has_material_basis_in epithelial cells.
A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells.
A sensory organ benign neoplasm that is located in the eye conjunctiva.
A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle.
A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.
A marginal zone B-cell lymphoma that has_material_basis_in mucosal tissue involved in antibody production.
mucosa-associated lymphoid tissue lymphoma
extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue
A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
caecum adenoma
An appendix cancer that has_material_basis_in neurodendocrine cells.
appendix carcinoid endocrine tumour
A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
A large intestine cancer that has_material_basis_in epithelial cells of glandular origin.
An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine.
An rectal neoplasm that has_material_basis_in epithelial tissue with glandular origin.
A mucoepidermoid carcinoma located_in the bronchus.
A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin.
lung combined type small cell adenocarcinoma
A vaginal cancer that has_material_basis_in epithelial cells.
A mucoepidermoid carcinoma located_in the trachea.
A tonsil cancer that has_material_basis_in squamous cells.
A pharynx cancer that has_material_basis_in squamous cells.
A gastrointestinal system cancer that has_material_basis_in epithelial cells.
A thyroid gland carcinoma that has_material_basis_in compact bundles of long spindle epithelial cells that merge with tubulopapillary structures and/or mucinous glands.
SETTLE tumor
SETTLE tumour
spindle epithelial tumour with thymus-like differentiation tumour
spindle epithelial tumor with thymus-like differentiation tumor
A muscle cancer that is located_in striated muscle and has_material_basis_in rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm.
A small intestine cancer that has_material_basis_in cells of the neuroendocrine system.
small intestine carcinoid neuroendocrine tumor
A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin.
A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
An ovarian cancer that has_material_basis_in melanoctyes.
A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract.
A sublingual gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ.
sublingual gland adenoid cystic carcinoma
A parotid gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ.
A lung carcinoma that has_material_basis_in a combination of squamous cells, mucus secreting cells and intermediate cells.
An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid.
An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells.
clear-cell ovarian carcinoma
An extracranial neuroblastoma that has_material_basis_in immature nerve cells.
A malignant pheochromocytoma that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin.
A retroperitoneal cancer that has_material_basis_in immature nerve cells.
A breast carcinoma that derives_from breast lobules (milk glands).
A uterine corpus cancer that is derives_from the inner lining of the uterus.
An endocervical carcinoma that derives_from epithelial cells of glandular origin.
A spastic ataxia that is characterized by cerebellar ataxia, spasticity and peripheral neuropathy in the first two decades of life, has_material_basis_in homozygous mutation in the KIF1C gene on chromosome 17p13.
A spastic ataxia that is characterized by cerebellar ataxia, spasticity, hyperreflexia, urinary urgency and dysarthria, has_material_basis_in homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33.
A spastic ataxia that is characterized by cerebellar ataxia, spasticity, dysarthria and optic atrophy, has_material_basis_in homozygous mutation in the MTPAP gene on chromosome 10p11.
A spastic ataxia that is characterized by early onset of cerebellar ataxia, spasticity, oculomotor apraxia, dystonia and myoclonic epilepsy, has_material_basis_in homozygous mutation in the AFG3L2 gene on chromosome 18p11.
A spastic ataxia that is characterized by poor visual acuity, cerebellar ataxia, dysarthria and pyramidal signs.
An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12.
A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain.
hereditary hypophosphatemic rickets with hypercalciuria
A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance.
autosomal dominant hypophosphatemic rickets
A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.
autosomal recessive hypophosphatemic rickets
A cerebellar ataxia that has_material_basis_in autosomal recessive inheritance.
A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements.
A hereditary ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy.
A hereditary ataxia that is characterized by X-linked inheritance.
An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22.
An autosomal dominant cerebellar ataxia that is characterized by ataxia, bulbar palsy, peripheral neuropathy chorea and muscle atrophy, has_material_basis_in mutation in the ATXN2 gene.
An autosomal dominant cerebellar ataxia that is characterized by progresive ataxia, has_material_basis_in mutation in the CACNA1A gene.
An autosomal dominant cerebellar ataxia that is characterized by progresive ataxia, dysarthria and peripheral neuropathy, has_material_basis_in mutation in the SCA4 gene.
An autosomal dominant cerebellar ataxia that is characterized by ataxia, progressive vision loss, and failure to thrive, has_material_basis_in mutation in the ATXN7 gene.
An autosomal dominant cerebellar ataxia that is characterized by slowly progressive dysarthria, bradykinesia, nystagmus and loss of coordination, has_material_basis_in mutation in the ATXN80S gene.
An autosomal dominant cerebellar ataxia that is characterized by gait ataxia, upper-limb ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the ATXN10 gene.
An autosomal dominant cerebellar ataxia that is characterized by ataxia, nystagmus, pyramidal abonormalities and peripheral neuropathy, has_material_basis_in mutation in the TTBK2 gene.
An autosomal dominant cerebellar ataxia that is characterized by minor ataxia and intention tremor, has_material_basis_in CAG expansion of the PPP2R2B gene.
An autosomal dominant cerebellar ataxia that is characterized by developmental delay, ataxia, myoclinic jerks, dysarthria, dysphagia and seizure, and has_material_basis_in mutation in the KCNC3 gene.
An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the PRKCG gene.
An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, nystagmus, dysarthria and dysphagia, has_material_basis_in mutation in the ITPR1 gene.
spinocerebellar ataxia type 16
An autosomal dominant cerebellar ataxia that is characterized by chorea, dementia, dystonia, spasiticity and seizure, has_material_basis_in CAG repeat expansion in the TBP gene.
An autosomal dominant cerebellar ataxia that is characterized by ataxia, sensorineal deafness, narcolepsy with cataplexy, and dementia, has_material_basis_in mutation in the DNMT1 gene.
autosomal dominant cerebellar ataxia, deafness and narcolepsy
An autosomal dominant cerebellar ataxia that is characterized by cerebellar ataxia and sensory neuropathy, has_material_basis_in mutation on chromosome 7q22-q23.
An autosomal dominant cerebellar ataxia that is characterized by mild cerebellar ataxia, cognitive impairment, myoclonus and tremor.
An autosomal dominant cerebellar ataxia that is characterized by cerebellar dysarthria.
An autosomal dominant cerebellar ataxia that is characterized by progressive cerebellar ataxia, cognitive impairment, tremor, bradykinesia and rigidity.
An autosomal dominnant cerebellar ataxia that is characterized by slowly progressive ataxia, dysarthria, slow saccades and hyperreflexia, has_material_basis_in mutation in the PDYN gene.
An autosomal dominant cerebellar ataxia that is characterized by ataxia and sensory neuropathy, has_material_basis_in repeat CAG expansion on chromosome 2p15-p21.
An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and oculomotor abnormalities, has_material_basis_in mutation in the EEF2 gene.
An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia, early-onset tremor and dyskinesia, and has_material_basis_in heterozygous mutation in the FGF14 gene on chromosome 13q33. Some patients have heterozygous deletions of chromosome 13q33 affecting the FGF14 and ITGBL1 genes, which may thus be considered a contiguous gene deletion syndrome.
autosomal dominant congenital nystagmus 4
vestibulocerebellar disorder with predominant ocular signs
An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has_material_basis_in mutation in the AFG3L2 gene.
An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, intellectual disability, dysarthria and ophthalmoplegia, and has_material_basis_in mutation in the ITPR1 gene.
An autosomal dominant cerebellar ataxia that is characterized by slowly progressive gait abnormalities and dysarthria, has_material_basis_in mutation in the ODZ3 gene.
An autosomal dominant cerebellar ataxia that is characterized by late-onset ataxia, dysarthria and horizontal nystagmus, has_material_basis_in repeat expansion mutation in the BEAN1 gene.
An autosomal dominant cerebellar ataxia that is characterized by papulosquamous, ichthyosiform plaques at birth and progressive ataxia, dysarthria, nystagmus and hyporeflexia, has_material_basis_in mutation in the ELOVL4 gene.
An autosomal dominant cerebellar ataxia that is characterized by a slowly progressive ataxia, tremor, dysarthria and hyperreflexia, has_material_basis_in mutation in the TGM6 gene.
An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, sensiorineural hearing loss and muscle atrophy, has_material_basis_in mutation in the NOP56 gene.
An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia and dysarthria, presenting in mid-adulthood, and has_material_basis_in mutation to the DAB1 gene.
An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and nystagmus, presenting in mid-adulthood, and has_material_basis_in mutation to the ELOVL5 gene.
An autosomal dominant cerebellar ataxia that is characterized by progressive gait abnormalutes, dysarthria, tremor and hyporeflexia, has_material_basis_in mutation in the CCDC88C gene.
An autosomal dominant cerebellar ataxia that is characterized by nystagmus, spasticity, and a distinct pattern of MRI abnormalities.
An autosomal dominant cerebellar ataxia that is characterized by cognitive delay, abnormal eye movements, and hearing loss.
An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1.
An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A.
An episodic ataxia that is characterized by periodic ataxia, myokymia, vertigo and tinnitus, and has_material_basis_in autosomal dominant inheritance.
An episodic ataxia that is characterized by vertigo and diplopia.
An episodic ataxia that is characterized by dysarthria and vertigo, develops in early childhood, and has_material_basis_in autosomal dominant inheritance of mutation in the CACNB4 gene.
An episodic ataxia that is characterized by nystagmus and dysarthria, and has_material_basis_in autosomal dominant inheritance of mutation in the SLC1A3 gene.
An episodic ataxia that is characterized by episodes of weakness and dysarthria, and has_material_basis_in autosomal dominant inheritance.
An episodic ataxia that is characterized by weakness, dysarthria and myokymia, and has_material_basis_in autosomal dominant inheritance of mutation in the UBR4 gene.
An syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia.
CAMRQ
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1)
cerebellar ataxia, mental retardation and dysequlibrium syndrome
An autosomal dominant cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has_material_basis_in autosomal dominant inheritance of mutation in the CAMTA1 gene.
nonprogressive cerebellar ataxia with mental retardation
An autosomal recessive cerebellar ataxia that is characterized by ataxia, dysarthria, nystagmus and marked cerebellar atrophy, has_material_basis_in mutation in the ANO10 gene.
SCAR10
autosomal recessive spinocerebellar ataxia 10
An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents.
A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol.
A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue.
Quincke edema
An autoimmune hypersensitivity disease located_in the central nervous system.
autoimmune disease of central nervous system
An autoimmune disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system.
A severe combined immunodeficiency that affects the development and function of T cells.
A severe combined immunodeficiency that is characterized by severe cell-mediated and antibody-mediated immunodeficiency with recurrent bacterial, viral, and fungal infections, develops_from janus kinase-3 deficiency, and has_material_basis_in autosomal recessive inheritance of mutation in the JAK3 gene of chromosome 19p13.11, responsible for normal differentiation and maturation of B and T immune cells.
A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has_material_basis_in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy.
BLS, TYPE I
BLSI
HLA CLASS I DEFICIENCY
bare lymphocyte syndrome type I
A severe combined immunodeficiency that has_material_basis_in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly.
combined immunodeficiency with hypereosinophilia
A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.
recombinase activating gene 1 deficiency
A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.
recombinase activating gene 2 deficiency
A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells.
SCID-X1
XSCID
gamma chain deficiency
thymic epithelial hypoplasia
X-linked severe combined immunodeficiency
A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age.
A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus.
IL-7R
A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development.
CD3D
A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex.
A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected.
A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs.
A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions.
De Vaal disease
aleukocytosis
A combined T cell and B cell immunodeficiency that has_material_basis_in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay.
LIG4 Syndrome
A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE.
HIGMX-1
X-linked hyper-IgM syndrome
A hyper IgM syndrome that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation.
CD40 deficiency
hyper-IgM syndrome due to CD40 deficiency
type 3 hyper-IgM immunodeficiency
A B cell deficiency that has_material_basis_in mutations in the IGLL1 gene. Lambda 5 mutations can cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage.
A B cell deficiency that is an autosomal recessive disorder that has_material_basis_in mutation in the IgA (CD79 alpha) antigen receptor.
IgA deficiency
gamma-A-globulin deficiency
A B cell deficiency that is characterized by mucosal infections and autoimmune diseases due to lack of production of immunoglobulin A antibody, and has_material_basis_in autosomal recessive inheritance.
IgB deficiency
An agammaglobulinemia that has_material_basis_in a mutation a homozygous mutation in the BLNK gene on chromosome 10q23.2.
B cell linker protein deficiency
B-cell linker protein deficiency
BLNK deficiency
A combined T cell and B cell immunodeficiency that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma.
thymoma with hypogammaglobulinemia
An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system.
An autoimmune disease located_in eyes, located_in ears, located_in nose and located_in throat.
autoimmune disease of eyes, ear, nose and throat
An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract.
autoimmune disease of gastrointestinal tract
An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system.
autoimmune disease of musculoskeletal system
An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system.
autoimmune disease of peripheral nervous system
A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles.
A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause.
A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.
A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.
An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue.
autoimmune disease of skin and connective tissue
A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors.
pervasive development disorder
A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.
An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism.
PDD
A disease of mental health that involves the impairment in normal sexual functioning.
A sexual disorder that is characterized recurrent, intense sexually arousing fantasies, sexual urges or behaviors generally involving nonhuman objects.
A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others.
A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language.
A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition.
A specific phobia that involves an irrational fear of contracting a disease.
An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract.
An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood.
An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system.
autoimmune disease of cardiovascular system
A neuropathy that affects the autonomic nervous system and is characterized by urinary incontinence, gastrointestinal dysmotility, orthostatic hypotension, apneas, sweat disturbances and impotence.
A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1.
facio-genito-popliteal syndrome
popliteal web syndrome
An immune system disease that has_material_basis_in abnormal immune responses.
A food allergy that develops from an immune reaction to eating gluten, a protein found in wheat, barley, rye and triticale and that is characterized by stomach cramping, diarrhea and gastrointestinal upset and is unrelated to the gluten intolerance.
allergy to gluten
gluten allergic reaction
A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.
lymphoid cancer
A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma.
A non-Hodgkin's lymphoma that has_material_basis_in a mutation of T cells.
cutaneous T-cell lymphoma
primary cutaneous T-cell non-Hodgkin lymphoma
A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease.
familial juvenile hyperuricemic nephropathy
A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production.
X-linked sideroblastic anaemia
X-linked sideroblastic anemia
XLSA
sideroblastic anaemia 1
A sideroblastic anemia that is characterized by microcytic hypochromic anemia and iron overload, and has_material_basis_in autosomal recessive inheritance of mutation in the SLC25A38 gene.
autosomal recessive pyridoxine-refractory sideroblastic anaemia 2
pyridoxine-refractory autosomal recessive sideroblastic anaemia
pyridoxine-refractory autosomal recessive sideroblastic anemia
autosomal recessive pyridoxine-refractory sideroblastic anemia 2
A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance.
pyridoxine-responsive sideroblastic anemia
A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction.
Pearson Marrow-Pancreas Syndrome
An endocarditis that results from the deposition of small sterile vegetations on valve leaflets.
non-bacterial thrombotic endocarditis
A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.
A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize.
An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue.
A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells.
A breast cancer that is characterized by the presence of estrogen receptors.
estrogen-receptor positive breast cancer
A breast cancer that is characterized by the absence of estrogen receptors.
estrogen-receptor negative breast cancer
A breast cancer that is characterized by the presence of progesterone receptors.
progesterone-receptor positive breast cancer
A breast cancer that is characterized by the absence of progesterone receptors.
progesterone-receptor negative breast cancer
A breast cancer that is characterized by the presence of Her2 receptors.
A breast cancer that is characterized by the absence of Her2 receptors.
A breast cancer that is characterized by the absence of estrogen, progresterone and Her2 receptors.
A thoracic benign neoplasm that is characterized by lack of malignancy.
An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system.
A benign neoplasm that is classified by the type of cell or tissue from which it is derived.
A benign neoplasm that is classified by the organ system from which it is arising from.
A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the female reproductive system.
female reproductive organ benign neoplasm
A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the male reproductive system.
A female reproductive organ benign neoplasm that is located_in the vestibular gland.
An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body.
A nervous system benign neoplasm that is characterized by lack of malignancy.
An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system.
An organ system benign neoplasm located_in the immune system organs.
A connective tissue benign neoplasm that is located_in bone.
A female reproductive organ benign neoplasm that is located_in the uterus.
A nervous system benign neoplasm that is located_in a sensory organ.
An organ system benign neoplam that is located_in the thoracic cavity.
A bone benign neoplasm of the bone that is characterized by clinical and histological similarity to osteoid osteomas.
An organ system benign neoplasm that is located_in the muscular and skeletal organs.
An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs.
skeletal system cancer
A connective tissue tumor that can be a benign chondroma or a maligannt chondrosarcoma.
A central nervous system cancer of children and young adults that develops from neural crest cells located_in cerebrum, has_material_basis_in abnormally proliferating cells derives_from neuroectoderm.
central nervous system primitive neuroectodermal neoplasm
A cerebellum cancer that begins in the lower part of the brain on the floor of the skull.
A brain cancer that is characterized by tumor of the meninges, that develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin.
A brain cancer that has_material_basis_in glial cells.
lower grade glioma
A female reproductive organ benign neoplasm that is located_in the vulva.
A female reproductive organ benign neoplasm that is located_in the cervix.
A female reproductive organ benign neoplasm that is located_in the fallopian tube.
A female reproductive organ benign neoplasm that is located_in the ovary.
A female reproductive organ benign neoplasm that is located_in the vagina.
An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system.
A nervous system cancer that is located in the sensory system.
A thoracic benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom.
A disease of anatomical entity that is located_in the thoracic cavity.
A gastrointestinal system cancer that is located_in the pharynx.
pharyngeal neoplasm
pharynx neoplasm
pharyngeal cancer
An organ system benign neoplasm located_in the integumentary system organs.
An organ system cancer that is located_in the skin, hair and nails.
A musculoskeletal system benign neoplasm that is located_in connective tissue.
neoplasm of soft tissue
neoplasm of soft tissues
soft tissue benign neoplasm
tumor of the soft tissue
A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains.
A heavy chain disease that results from an overproduction of alpha antibodies (IgA).
Seligmann's disease
A heavy chain disease that results from an overproduction of gamma antibody (IgG).
Franklin's disease
A heavy chain disease that results from an overproduction of mu antibody (IgM).
A heavy chain disease that results from an overproduction of delta antibody (IgD).
An agnosia that is a loss of motion perception.
An agnosia that is a deficiency in understanding, processing, or describing emotions.
An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals.
receptive amusia
An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments.
An agnosia that is a loss of the ability to distinguish visual shapes.
An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities.
An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them.
An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal.
An agnosia that is a loss of the ability to orient parts of the body.
An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it.
An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact.
An agnosia that is a loss of the ability to distinguish the fingers on the hand.
An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details.
An agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole.
An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field.
An agnosia that is a loss of the ability to perceive and process pain.
analgesia
An agnosia that is a loss of the ability to recognize familiar voices.
An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object.
An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time.
An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction.
expressive agnosia
An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight.
somatosensory agnosia
An agnosia that is a loss of the ability to recognize or identify objects by touch alone.
An agnosia that is a loss of the ability to comprehend the succession and duration of events.
An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects.
An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful.
An agnosia that is a loss of the ability to visually recognize objects.
An agnosia that is a loss of the ability to comprehending the meaning of written words.
An alopecia areata that involves diffuse loss of hair over the whole scalp.
A disease of metabolism that has_material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption.
An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids.
organic acid metabolism disorder
organic aciduria
A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood.
spinal muscular atrophies of childhood
survival motor neuron spinal muscular atrophy
A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor.
Kennedy disease
SBMA
Spinobulbar Muscular Atrophy
X-Linked Bulbo-Spinal Atrophy
X-linked Spinal and Bulbar Muscular Atrophy
spinal bulbar muscular atrophy
An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein.
DRPLA
Haw River Syndrome
Naito-Oyanagi disease
A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image).
body dysmorphia
dysmorphic syndrome
dysmorphophobia
A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress.
A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior.
A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes.
A mental depression that involves presentation of depressive symptoms only during a specific season of the year.
winter depression
A histidine metabolism disease characterized by a deficiency of the enzyme histidase.
histidinuria
An infancy electroclinical syndrome that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae.
BFIC
BFIE
benign familial infantile convulsion
benign familial infantile seizures
An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset.
GEFS+
generalized epilepsy with febrile seizures plus
An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures.
A syndrome that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of CACNA1C on chromosome 12p13.33.
A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde.
Gamma-amino butyric acid transaminase deficiency
gamma-aminobutyric acid transaminase deficiency
A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid.
4-hydroxybutyric aciduria
SSADH
gamma-hydroxybutyric aciduria
succinic semialdehyde dehydrogenase deficiency
An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway.
gamma-amino butyric acid metabolism disorder
A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine.
A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness.
An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males.
Golabi-Ito-Hall syndrome
Sutherland-Haan X-linked mental retardation syndrome
X-linked intellectual disability due to PQBP1 mutations
X-linked intellectual disability, Renpenning type
X-linked mental retardation Renpenning type
X-linked mental retardation with spastic diplegia
syndromic X-linked mental retardation 8
An inflammatory bowel disease that involves inflammation located_in colon.
A colitis caused_by inadequate blood supply to the colon.
A colitis that can only be diagnosed_by the examination of colon tissue under a microscope.
A colitis characterized by a distinctive thickening of the subepithelial collagen table.
Has peak incidence in the 5th decade of life, affecting women more than men and a normal colonoscopy but abnormal histopathology on biopsy.
A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria).
The peak incidence of lymphocytic colitis is in persons over age 50; the disease affects women and men equally.
A colitis characterized by an overgrowth of Clostridium difficile bacteria.
Pseudomembranous colitis
A colitis caused_by introduction of various chemicals.
A colitis caused_by diversion of the fecal stream due to complication of ileostomy or colostomy.
An inflammatory bowel disease that is characterized by patchy areas of inflammation located_in jejunum, has_symptom abdominal pain, has_symptom diarrhea, has_symptom cramps and has_symptom formation of fistulas.
An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss.
Crohn's ileitis
An inflammatory bowel disease characterized by inflammation located_in colon and located_in ileum, has_symptom diarrhea, has_symptom weight loss, has_symptom abdominal pain in middle or lower right part.
An inflammatory bowel disease characterized by inflammation located_in stomach and located_in duodenum, has_symptom nausea, has_symptom vomiting, has_symptom weight loss and has_symptom loss of appetite.
upper GI Crohn's disease
An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus.
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SOD1 gene on chromosome 21. The most common type of familial ALS.
ALS1
amyotrophic lateral sclerosis 1
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the alsin gene on chromosome 2.
ALS2
amyotrophic lateral sclerosis 2
amyotrophic lateral sclerosis 2, juvenile
An amyotrophic lateral sclerosis that has_material_basis_in mutation in loci on chromosome 18.
amyotrophic lateral sclerosis 3
ALS3
An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the SETX gene on chromosome 9.
ALS 4
amyotrophic lateral sclerosis 4
amyotrophic lateral sclerosis 4, juvenile
dHMN with upper motor neuron signs
distal hereditary motor neuropathy with pyramidal features
distal hereditary motor neuropathy with upper motor neuron signs
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21.
ALS5
amyotrophic lateral sclerosis 5
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FUS gene on chromosome 16.
ALS6
amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
autosomal recessive amyotrophic lateral sclerosis 6
An amyotrophic lateral sclerosis that has_material_basis_in mutation in loci on chromosome 20.
ALS7
amyotrophic lateral sclerosis 7
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ANG gene on chromosome 14.
ALS9
amyotrophic lateral sclerosis 9
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1.
ALS10
TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions
amyotrophic lateral sclerosis 10
amyotrophic lateral sclerosis 10, with or without frontotemporal dementia
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FIG4 gene on chromosome 6.
ALS11
amyotrophic lateral sclerosis 11
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the OPTN gene on chromosome 10.
ALS12
amyotrophic lateral sclerosis 12
An amyotrophic lateral sclerosis where a mutation that has_material_basis_in the ATXN2 gene on chromosome 12 contributes to suscepitbility.
ALS13
amyotrophic lateral sclerosis 13
An association between 29 or more CAG repeats and the development of ALS13 exists.
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VCP gene on chromosome 9p13.
ALS14
amyotrophic lateral sclerosis 14
amyotrophic lateral sclerosis, with or without frontotemporal dementia
frontotemporal dementia and/or amyotrophic lateral sclerosis-6
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the UBQLN2 gene on chromosome X.
ALS15
amyotrophic lateral sclerosis 15
amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SIGMAR1 gene (SETX) on chromosome 9.
ALS16
amyotrophic lateral sclerosis 16
amyotrophic lateral sclerosis 16, juvenile
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the PFN1 gene on chromosome 17.
ALS18
amyotrophic lateral sclerosis 18
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ERBB4 gene on chromosome 2.
ALS19
amyotrophic lateral sclerosis 19
An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the HNRNPA1 gene on chromosome 12.
ALS20
amyotrophic lateral sclerosis 20
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the MATR3 gene on chromosome 5.
ALS21
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the C9ORF72 gene on chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.
ALSFTD
FTDMND
amyotrophic lateral sclerosis and/or frontotemporal dementia
frontotemporal dementia and/or amyotrophic lateral sclerosis 1
frontotemporal dementia and/or motor neuron disease
frontotemporal dementia and/or amyotrophic lateral sclerosis-1
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.
frontotemporal dementia and/or amyotrophic lateral sclerosis 2
frontotemporal dementia and/or amyotrophic lateral sclerosis-2
A multiple sclerosis that is characterized by concentric layers of demyelinated tissues, tumor-like lesions larger than two centimeters and symptoms similar to those of a brain tumor.
Balo's concentric sclerosis
An eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue.
Cogan's syndrome
diffuse interstitual keratitis
OWL also bilateral audiovestibular deficits.
An eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma.
A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia.
A lymph node carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes.
lymph node adenoid cystic cancer
An urticaria induced by external physical influences.
A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas.
A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan.
mucopolysaccharidosis type 1S
mucopolysaccharidosis type IS
mucopolysaccharidosis type V
An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell.
A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.
A-fib
A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes.
craniofacial-ulnar-renal syndrome
oculopalatoskeletal syndrome
A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure.
AFFN dysostosis
Richieri-Costa-Colletto syndrome
A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs.
Adams Oliver syndrome
An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm.
familial aneurysmal subarachnoid hemorrhage
familial berry aneurysm
familial intracranial saccular aneurysm
saccular cerebral aneurysm
A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present.
A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills.
Fahr disease
A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta.
osteogenesis imperfecta with congenital joint contractures
A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome.
BO syndrome
BOR
branchiootic dysplasia
A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes.
CFC syndrome
cardio-facial-cutaneous syndrome
An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly.
acrocephalopolysyndactyly type II
A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria.
CPT-II
infantile carnitine palmitoyltransferase II deficiency
late-onset carnitine palmitoyltransferase II deficiency
lethal neonatal carnitine palmitoyltransferase II deficiency
carnitine palmitoyltransferase II deficiency
A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones.
xanthine dehydrogenase deficiency
xanthine oxidase deficiency
A syndrome characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism.
WARBM
Warburg-Sjo-Fledelius syndrome
micro syndrome
A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation.
cerebro-facio-articular syndrome
A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone.
lip-pit syndrome
A skin disease characterized by photosensitivity and liver spots (solar lentigines).
A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities.
Le Merrer syndrome
Miller-McKusick-Malvaux syndrome
Yakut short stature syndrome
dolichospondylic dysplasia
gloomy face syndrome
three M syndrome
A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOXD13 gene.
syndactyly type 2
An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech.
familial persistent stuttering
stammering
A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors.
A hereditary spastic paraplegia associated with dementia.
SPG21
autosomal recessive spastic paraplegia 21
autosomal recessive spastic paraplegia type 21
hereditary spastic paraplegia 21
A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range.
CRASH syndrome
Gareis-Mason syndrome
L1 syndrome
SPG1
X-linked complicated hereditary spastic paraplegia type 1
X-linked corpus callosum agenesis
X-linked spastic paraplegia 1
hereditary spastic paraplegia 1
A Dyggve-Melchior-Clausen disease that is characterized by short limbs and a short trunk with a barrel-shaped chest.
A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26.
DGSX Golabi-Rosen syndrome
Golabi-Rosen syndrome
SGB syndrome
Sara Angers syndrome
Simpson dysmorphia syndrome
X-linked dysplasia gigantism syndrome
bulldog syndrome
A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine.
A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life.
A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea.
isolated congenital sclerocornea
A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.
A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities.
Robinow dwarfism
acral dysostosis with facial and genital abnormalities
fetal face syndrome
A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25.
autosomal dominant limb-girdle muscular dystrophy type 1C
A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.
dark dot disease
reticular pigment anomaly of flexures
A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities.
reticulate acropigmentation of Dohi
A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present.
RAPK
A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth.
Ivemark's syndrome
An eye disease characterized by the drooping or falling of the upper or lower eyelid.
blepharoptosis
drooping eyelid
A ptosis characterized by eyelid drop present at birth.
A gastrointestinal system disease that is located_in the gallbladder.
A brain disease that is characterized by encephalomalacia and cystic brain lesions.
A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum.
PCH
A pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene.
A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene.
A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.
A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN2 gene.
A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene.
A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the SEPSECS gene.
A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the VPS53 gene.
A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene.
A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypertonia, myoclonus, seizure and early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.
A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.
A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene.
A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has_material_basis_in autosomal recessive mutation in the TOE1 gene.
A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene.
A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the AMPD2 gene.
A pontocerebellar hypoplasia that is characterized by severe developmental delays, progressive microcephaly, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the CLP1 gene.
An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules.
primary pigmented nodular adrenocortical disease
An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights.
photogenic epilepsy
photoparoxysmal response
A developmental vitreous disease that is characterized by leukocoria, strabismus and vision loss, caused by failure of primary vitreous and hyaloid vasculature to regress during embryological development.
persistent hyperplastic primary vitreous
A skin disease that is characterized by the painless peeling of the top layer of skin predominately on the hands and feet, has_material_basis_in autosomal recessive inheritance of mutation in the TGM5 gene and/pr CSTA gene.
An aquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system.
An inherited neural tube defect that is characterized by enlarged openings in the parietal bones of the skull, has_material_basis_in mutation in the ALX4 gene or MSX2 gene.
Caitlin marks
enlarged parietal foramina
hereditary cranium bifidum
A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction.
combined oxidative phosphorylation deficiency
A corneal disease that is characterized by a flat cornea where the radus of curvature is less than 43 D.
flat cornea
An osteochondrodysplasia that is characterized by severe limb shortening and facial dysmorphism.
A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.
Ohdo blepharophimosis syndrome
A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability.
Ohdo syndrome, SBBYS Variant
Say-Barber-Biesecker-Young-Simpson syndrome
SBBYSS
blepharophimosis-intellectual disability syndrome, SBBYS type
A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities.
ODD syndrome
A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, has_material_basis_in X-linked recessive inheritance, has_material_basis_in deficiency of arylsulfatase E. and is associated with associated with vitamin K-related teratogenicity.
chondrodystrophia calcificans congenita
A chondrodysplasia punctata that is characterized by abnormal facies and stippling of the limbs, associated with vitamin K-related teratogenicity, has_material_basis_in autosomal dominant inheritance.
autosomal dominant chondrodysplasia punctata
A syndrome that is characterized by profuse sweating induced by cold ambient temperature.
Crisponi syndrome
Sohar-Crisponi syndrome
A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in autosomal recessive inheritance of mutation in the C2 gene.
A secretory diarrhea that has_material_basis_in mutation in the SLC26A3 gene.
congenital chloride diarrhea finnish type
congenital chloride diarrhoea finnish type
congenital chloridorrhea
congenital secretory chloride diarrhoea 1
congenital secretory chloride diarrhea 1
A complement deficiency that is characterized by recurrnet bascterial infections, caused by C4A deficiency.
A complement deficiency that is characterized by recurrnet bascterial infections, caused by C4B deficiency.
A complement deficiency that is characterized by recurrnet bascterial infections, has_material_basis_in mutation in the C6 gene.
A complement deficiency that is characterized byrecurrnet bascterial infections, has_material_basis_in mutation in the C7 gene.
A complement deficiency that is characterized by deficiency of the alpha subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8A gene, which produces the alpha subunit of complement component 8 important in forming membrane attack complexes.
type I complement component 8 deficiency
A complement deficiency that is characterized by deficiency of the beta subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8B gene, which produces the beta subunit of complement component 8 important in forming membrane attack complexes.
type II complement component 8 deficiency
A complement deficiency that is characterized by recurrnet bascterial infections, has_material_basis_in mutation in the C9 gene.
A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.
A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene.
anterior megalophthalmos
congenital anterior megalophthalmia
A syndrome that is characterized by bilateral underdevelopment of the external ear, short stature, absent or underdeveloped patellae and severe prenatal and postnatal growth retardation.
ear-patella-short stature syndrome
A intellectual disability characterized by an autosomal dominant inheritance pattern.
autosomal dominant mental retardation
autosomal dominant non-syndromic mental retardation
autosomal dominant intellectual developmental disorder
A intellectual disability characterized by an autosomal recessive inheritance pattern.
autosomal recessive mental retardation
autosomal recessive non-syndromic mental retardation
autosomal recessive intellectual developmental disorder
A syndromic intellectual characterized by an X-linked inheritance pattern.
syndromic X-linked mental retardation
syndromic X-linked intellectual disability
An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size.
acute uvulitis
An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing.
adenoidal hypertrophy
enlarged adenoids
A cheilitis characterized by inflammation of one or both of the corners of the mouth.
angular cheilosis
angular stomatitis
cheilosis
commissural cheilitis
A tracheal disease characterized by flaccidity of the tracheal support cartilage.
congenital tracheomalacia
A lymph node disease characterized by enlarged, non-painful lymph nodes occurring for more than three to six months for which no other reason can be found.
PGL
A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus.
hairy leukoplakia
An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease.
Papillon-Leage-Psaume syndrome
orofaciodigital syndrome 1
orofaciodigital syndrome type I
A lung disease characterized by microbial infection which causes a type of liquefactive necrosis of the pulmonary tissue and formation of cavities containing necrotic debris or fluid.
An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17.
acute myeloblastic leukaemia type 3
acute myeloblastic leukemia type 3
acute myeloid leukaemia M3
acute myeloid leukemia M3
acute promyelocytic leukaemia
A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all.
cardiopulmonary arrest
circulatory arrest
An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal.
A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles.
A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process.
A breast disease characterized by a collection of pus in the breast.
A tooth disease characterized by a localized collection of pus associated with a tooth.
A cervix disease characterized by a benign polyp on the surface of the cervical canal.
A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes.
A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac.
omphalocoele
An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin.
A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity.
eccyesis
An ectodermal dysplasia characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate.
RHS
anhidrotic ectodermal dysplasia with cleft lip/palate
ectodermal dysplasia syndrome, Rapp-Hodgkin type
ectodermal dysplasia, Rapp-Hodgkin type
A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21.
MC5DN2
neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency
mitochondrial complex V (ATP synthase) deficiency nuclear type 2
A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13.
MC5DN3
mitochondrial complex V (ATP synthase) deficiency nuclear type 3
A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5A1 gene on chromosome 18q.
MC5DN4
mitochondrial complex V (ATP synthase) deficiency nuclear type 4
A neonatal diabetes that is characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients.
A sideroblastic anemia characterized by an autosomal dominant inheritance pattern.
autosomal dominant sideroblastic anemia 4
An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine.
A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis.
cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome
An embryonal rhabdomyosarcoma located in the parameningeal region.
parameningeal embryonal rhabdomyosarcoma
A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has_material_basis_in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO).
CAID syndrome
chronic atrial and intestinal dysrhythmia
A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.
A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported.
agnathia-holoprosencephaly-situs inversus syndrome
dysgnathia complex agnathia-holoprosencephaly
holoprosencephaly-agnathia
otocephaly
A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations.
An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption.
steroid-induced osteoporosis
An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis.
Herxheimer disease
primary diffuse atrophy
A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs.
A neuromuscular disease characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13.
A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes.
A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in TBCE on chromosome 1q42.3.
HRD syndrome
Sanjad-Sakati syndrome
hypoparathyroidism with short stature, mental retardation and seizures
hypoparathyroidism-retardation-dysmorphism syndrome
A syndrome characterized byvariable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.
chorioretinal dysplasia-microcephaly-mental retardation syndrome
lymphedema and retinal folds with ficrocephaly and microphthalmos
lymphedema, microcephaly and chorioretinopathy syndrome
microcephaly lymphedema chorioretinal dysplasia
microcephaly, lymphedema, chorioretinal dysplasia syndrome
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24.
2,8-dihydroxyadenine urolithiasis
APRT deficiency
adenine phosphoribosyltransferase deficiency
A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has_material_basis_in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern.
MC3DN2
mitochondrial complex III deficiency nuclear type 2
A Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region.
9q subtelomeric deletion syndrome
9q-syndrome
9q34 deletion syndrome
An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has_material_basis_in heterozygous mutation in the POLR1A gene on chromosome 2p11.
A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has_material_basis_in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an autosomal dominant inheritance pattern.
thrombocytopathy, asplenia and miosis
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TUBA4A gene on chromosome 2q35.
ALS 22
amyotrohpic lateral sclerosis 22 with or without frontotemporal dementia
amyotrophic lateral sclerosis 22
A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3.
immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1.
Anderson disease
CMRD
An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal.
MAD deficiency
MADD
electron transfer flavoprotein deficiency
electron transfer flavoprotein ubiquinone oxidoreductase deficiency
glutaric acidemia type 2
glutaric aciduria type 2
multiple acyl-CoA dehydrogenase deficiency
An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections.
ACPS with leg hypoplasia
Sakati syndrome
Sakati-Nyhan-Tisdale syndrome
acrocephalopolysyndactyly Type III
acrocephalopolysyndactyly type 3
A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis.
hereditary papulotranslucent acrokeratoderma
A palmoplantar keratosis characterized by keratoses with a raindrop pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.
punctate palmoplantar hyperkeratosis
punctate keratosis palmoplantaris
A punctate palmoplantar keratoderma that is characterized by hyperkeratinization of the palms and soles, has_material_basis_in autosomal dominant inheritance of mutation in the AAGAB gene.
acrokeratoelastoidosis of Costa
punctate palmoplantar hyperkeratosis type 3
punctate palmoplantar keratoderma type 3
punctate palmoplantar keratoderma type III
An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has_material_basis_in mutation in the GK gene on chromosome Xp21.
A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25.
Galloway syndrome
microcephaly, hiatal hernia and nephrotic syndrome
nephrosis-microcephaly syndrome
nephrosis-neuronal dysmigration syndrome
A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.
MFDA
mandibulofacial dysostosis with alopecia
A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients.
Hennekam lymphangiectasia-lymphedema syndrome
lymphedem-lymphangiectasia-intellectual disability syndrome
A late onset Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein gene on chromosome 4q22.1.
autosomal dominant Parkinson disease 1
autosomal dominant Parkinson's disease 1
An early-onset Parkinson's disease that has_material_basis_in mutation in the parkin gene on chromosome 6q25.2-q27.
autosomal recessive juvenile Parkinson disease 2
autosomal recessive juvenile Parkinson's disease 2
An early-onset Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12.
autosomal recessive early-onset Parkinson disease 6
autosomal recessive early-onset Parkinson's disease 6
early-onset Parkinson disease 6
An early-onset Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36.
autosomal recessive early-onset Parkinson disease 7
autosomal recessive early-onset Parkinson's disease 7
A late onset Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene on chromosome 12q12.
autosomal dominant Parkinson disease 8
autosomal dominant Parkinson's disease 8
An early-onset Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3.
Parkinsonian-pyramidal syndrome
autosomal recessive early-onset Parkinson disease 15
autosomal recessive early-onset Parkinson's disease 15
pallidopyramidal syndrome
An orofaciodigital syndrome that is characterized by dysmorphic facies and severe intellectual deficits, and has_material_basis_in autosomal recessive inheritance.
Sugarman syndrome
An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene.
Baraitser-Burn syndrome
OFD4
An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32.
OFD5
orofaciodigital syndrome Thurston type
polydactyly, postaxial, with median cleft of upper lip
A Joubert syndrome that is characterized by orofaciodigital defect.
OFD6
Polydactyly cleft lip palate psychomotor retardation
Varadi syndrome
Varadi-Papp syndrome
orofaciodigital syndrome VI
Joubert syndrome with orofaciodigital defect
An orofaciodigital syndrome that is characterized by oral, facial and digital abnormalities, and has_material_basis_in autosomal dominant inheritance.
OFD7
Whelan syndrome
An orofaciodigital syndrome that is characterized by tongue lobulation, hypoplasia of the epiglottis, cleft lip, polydactyly, short stature and intellectual deficit, and has_material_basis_in X-linked recessive inheritance.
Edwards syndrome
OFD8
A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene.
An orofaciodigital syndrome that is characterized by facial, oral and digital deformities as well as radial shortening, fibular agenesis and coalescence of tarsal bones.
OFD10
orofaciodigital syndrome with fibular aplasia
An orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and congenital heart defects.
An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus,bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance.
OFD9
orofaciodigital syndrome with retinal abnormalities
An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has_material_basis_in autosomal recessive inheritance.
acrofacial dysostosis, syndrome of Rodriguez
An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias.
Opitz Mollica Sorge syndrome
Opitz-Caltabiano syndrome
An acrofacial dysostosis that is characterized by oligodontia, short stature, pili torti, syndactyly, vertebral abnormalities and cleft lip, and has_material_basis_in X-linked dominant inheritance.
A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has_material_basis_in autosomal dominant inheritance of mutation in the TREX1 gene.
An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene.
Blomstrand lethal chondrodysplasia
A chromosomal disease that has_material_basis_in partial deletion of chromosomes.
A chromosomal deletion syndrome that is characterized by dysmorphic facies, developmental delay and multiple congenital abnormalities and huvenile polyposis, has_material_basis_in recurrent deletions of chromosome 10q22.3-q23.2.
A chromosomal deletion syndrome that is characterized by developmental delay, intellectual disability, behavioral problems and facial facies caused by a missing copy of the long arm of chromosome 10.
chromosome 10q26 deletion syndrome
distal monosomy 10q
monosomy 10qter
telomeric deletion 10q
terminal chromosome 10q26 deletion syndrome
A chromosomal deletion syndrome that is characterized by low birth weight, dysmorphic facies, limb defects, genital malformations and psychomotor developmental delay, has_material_basis_in deletion of the long arm of chromosome 13.
deletion 13q14
A chromosomal deletion syndrome that is characterized by microcephaly, dysmorphic facies, psychomotor delay and failure to thrive, has_material_basis_in isolated cases of partial deletion of the long arm of chromosome 14.
14q11.2 microdeletion syndrome
A chromosomal deletion syndrome that is characterized by intellectual disbaility, dysmorphic facies, psychiatric illness and autism spectrum disorder, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15.
15q11.2 microdeletion syndrome
A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15.
15q13.3 microdeletion syndrome
chromosome 15q13.3 microdeletion syndrome
A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has_material_basis_in autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion of the long arm of chromosome 15.
15q24 microdeletion syndrome
A chromosomal deletion syndrome that is characterized by intellectual disability and developmental delay, has_material_basis_in partial deletion of the long arm of chromosome 15.
A chromosomal deletion syndrome that is characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, brachy-clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits and mild craniofacial dysmorphism including microcephaly, triangular face, broad nasal bridge and micrognathia.
15q26 deletion syndrome
Drayer syndrome
distal 15q deletion syndrome
distal monosomy 15q
telomeric 15q deletion syndrome
A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 encompassing approximately 9 genes, including the SH2B1 gene.
distal 16p11.2 microdeletion syndrome
A chromosomal deletion syndrome that has_material_basis_in a 520 kb deletion on the short (p) arm of the chromosome at a location designated 16p12.1 and is characterized by developmental delay, craniofacial dysmorphology, and congenital heart defects.
A chromosomal deletion syndrome that has_material_basis_in a chromosome 16p12.2-p11.2 deletion and that is characterized by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment.
16p11.2-p12.2 microdeletion syndrome
16p11.2p12.2 microdeletion syndrome
chromosome 16p12.2-p11.2 deletion syndrome
A chromosomal deletion syndrome that has_material_basis_in an interstitial 16q22 deletion that is characterized by a failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck.
A chromosomal deletion syndrome that has_material_basis_in a chromosome 17p13.1 deletion and that is characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.
A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene.
17q11 microdeletion syndrome
NF1 microdeletion syndrome
Van Asperen syndrome
neurofibromatosis type 1 microdeletion syndrome
A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder.
17q12 microdeletion syndrome
A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q23.1-q23.2 deletion and that is characterized by characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.
17q23.1-q23.2 microdeletion syndrome
17q23.1q23.2 microdeletion syndrome
chromosome 17q23.1-q23.2 deletion syndrome
A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18.
18p- syndrome
De Grouchy syndrome
monosomy 18p
A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations.
18q- syndrome
deletion 18q
monosomy 18q
A chromosomal deletion syndrome that has_material_basis_in a chromosome 19q13.11 deletion and that is characterized by characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties.
19q13.11 microdeletion syndrome
monosomy 19q13.11
A syndrome that has_material_basis_in heterozygous mutation in the NFIA gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia.
1p31p32 microdeletion syndrome
brain malformations with or without urinary tract defects
A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears.
1p36 deletion syndrome
deletion 1p36
monosomy 1p36
subtelomeric 1p36 deletion
A chromosomal deletion syndrome that has_material_basis_in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems.
1q21.1 microdeletion syndrome
monosomy 1q21.1
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region.
1q41-q42 microdeletion syndrome
1q41q42 microdeletion syndrome
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome.
distal 22q11.2 microdeletion syndrome
chromosome 22q11.2 deletion syndrome, distal
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p12-p11.2 region.
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p16.1-p15 region that is characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate.
2p15p16.1 microdeletion syndrome
2p15-p16.1 microdeletion syndrome
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2q31.2 region.
A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion syndrome involving chromosome 3pter-p25 and is characterized by low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia.
chromosome 3pter-P25 deletion syndrome
distal monosomy 3p
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q13.31 region and that is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia.
3q13 microdeletion syndrome
monosomy 3q13
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q29 region.
3q subtelomere deletion syndrome
3q29 microdeletion syndrome
3qter deletion
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 4q21 region.
4q21 microdeletion syndrome
monosomy 4q21
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 5q12 region.
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6pter-p24 region.
6p subtelomeric deletion syndrome
6p25 microdeletion syndrome
distal monosomy 6p
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q11-q14 region and that is characterize by hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched palate.
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q24-q25 region.
6q25 microdeletion syndrome
monosomy 6q25
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 8q21.11 region and that is characterized by intellectual disability and common facial dysmorphic features.
8q21.11 microdeletion syndrome
A chromosomal deletion syndrome that has_material_basis_in a chromosome 19p13.13 deletion and that is characterized by an unusually large head size, tall stature, and intellectual disability that is usually moderate in severity.
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome Xp21 region.
Xp21 microdeletion syndrome
complex glycerol kinase deficiency
monosomy Xp21
A syndrome that has_material_basis_in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2.
2q32-q33 microdeletion syndrome
2q32q33 microdeletion syndrome
Glass syndrome
monosomy 2q32
monosomy 2q32-q33
monosomy 2q32q33
A chromosomal disease that has_material_basis_in extra copies of a chromosomal region.
A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language.
proximal 16p11.2 microduplication syndrome
proximal dup(16)(p11.2)
proximal trisomy 16p11.2
A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p13.3 region.
16p13.3 microduplication syndrome
distal duplication 16p
distal trisomy 16p
telomeric duplication 16p
A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17p13.3 region.
17p13.3 duplication syndrome
17p13.3 microduplication syndrome
chromosome 17p13.3 centromeric duplication syndrome
trisomy 17p13.3
A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q12 region.
17q12 microduplication syndrome
trisomy 17q12
A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q21.31 region.
17q21.31 microduplication syndrome
trisomy 17q21.31
chromosome 17q21.31 duplication syndrome
A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 1q21.1 region.
1q21.1 microduplication syndrome
trisomy 1q21.1
A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q11.2 region.
22q11.2 microduplication syndrome
duplication 22q11.2
trisomy 22q11.2
chromosome 22q11.2 microduplication syndrome
A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q13 region.
An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance.
An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11.
LPI
dibasic amino aciduria II
hyperdibasic aminoaciduria
A corneal dystrophy that primarily affects the corneal epithelium and its basement membrane.
A corneal dystrophy that is characterized by abnormal deposition of proteins in the cornea and is caused by mutations in TGFBI gene of chromosome 5q.
A corneal dystrophy that affects the corneal stroma.
A corneal dystrophy that affects the corneal endothelium and/or the descemet membrane.
endothelial dystrophy
An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located_in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface.
CGD2
avellino corneal dystrophy
combined granular-lattice corneal dystrophy
corneal dystrophy, Avellino type
granular corneal dystrophy type 2
A stromal dystrophy that is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth.
CSCD
congenital hereditary stromal dystrophy
A corneal endothelial dystrophy that is characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.
XECD
An epithelial and subepithelial dystrophy that is characterized by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium.
Cogan corneal dystrophy
EBMD
microcystic corneal dystrophy
A stromal dystrophy that is characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma and that has_material_basis_in heterozygous mutation in the PIKFYVE gene on chromosome 2q34.
FCD
Francois-Neetens speckled corneal dystrophy
An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32.
GDCD
corneal amyloidosis
primary familial amyloidosis of the cornea
subepithelial amyloidosis of the cornea
An epithelial and subepithelial dystrophy that is characterized by bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns.
LECD
band-shaped and whorled microcystic
An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium.
MECD
Stocker-Holt dystrophy
juvenile hereditary epithelial dystrophy
A stromal dystrophy that is characterized by irregular sheetlike areas of opacification with involvement of the Descemet membrane and, in some instances, alterations of the normal endothelial mosaic and that has_material_basis_in a chromosome 12q21.33 contiguous gene deletion syndrome.
PACD
An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and irregular geographic opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea.
RBCD
anterior limiting membrane dystrophy type I
corneal dystrophy of Bowman layer type I
geographic corneal dystrophy
granular corneal dystrophy type III
An epithelial and subepithelial dystrophy that is characterized by frequent, recurrent corneal erosions in the first decade of life.
SMCD
subepithelial mucinous corneal dystrophy
An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea.
TBCD
Waardenburg-Jonker corneal dystrophy
anterior limiting membrane dystrophy type II
corneal dystrophy honeycomb-shaped
corneal dystrophy of Bowman layer type II
A stromal dystrophy that is characterized by abnormal deposition of cholesterol and phospholipids in the cornea and that has_material_basis_in heterozygous mutation in the UBAID1 gene on chromosome 1p36.
SCCD
Schnyder crystalline corneal dystrophy
corneal dystrophy crystalline of Schnyder
crystalline stromal dystrophy
hereditary crystalline stromal dystrophy of Schnyder
A corneal dystrophy that is characterised by changes in Descemet's membrane and endothelial layer.
PPCD
Schlichting dystrophy
hereditary polymorphus posterior corneal dystrophy
posterior polymorphous corneal dystrophy
A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 2q31.1 region.
A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 3q29 region.
3q29 microduplication
trisomy 3q29
chromosome 3q29 microduplication syndrome
A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 5p13 region.
5p13 microduplication syndrome
trisomy 5p13
A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome Xp11.23-p11.22 region.
microduplication Xp11.22-p11.23 syndrome
trisomy Xp11.22-p11.23
chromosome Xp11.23-p11.22 duplication syndrome
An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx.
Desbuquois syndrome
micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum.
nuclear protein in testis midline carcinoma
A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation.
FGLDS
MODED syndrome
ODED syndrome
digital anomalies with short palpebral fissures and atresia of esophagus or duodenum
microcephaly-digital anomalies-normal intelligence syndrome
microcephaly-oculo-digito-esophageal-duodenal syndrome
oculo-digito-esophageal-duodenal syndrome
An osteochondrodysplasia that is characterized by shortened long bones in the arms and legs that are unusually wide at the ends, flattened vertebrae with a characteristic pinched or pear shape, and a very narrow chest in infants with short, wide ribs and a round and prominent abdomen.
A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa.
hereditary gingival fibromatosis
hereditary gingival hyperplasia
A synostosis that is characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity.
humero-radial fusion
A syndrome characterized by congenital anomalies located_in heart and located_in upper limb.
atrio-digital syndrome
atriodigital dysplasia
heart-hand syndrome
A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene.
MDS
Miller-Dieker syndrome
A syndrome characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in SIAT9 on chromosome 2p11.2.
salt & pepper syndrome
salt-and-pepper syndrome
A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction.
fetal valproic acid syndrome
foetal valproate syndrome
foetal valproic acid syndrome
A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling.
hereditary acrokeratotic poikiloderma of Kindler-Weary
poikiloderma of Kindler
A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects.
KMS
Kabuki make up syndrome
Niikawa-Kuroki syndrome
A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25.
Chuvash erythromatosis
Chuvash polycythemia
Chuvash type polycythemia
ECYT2
autosomal recessive benign erythrocytosis
An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25.
EEOC
childhood onset epileptic encephalopathy
A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome.
nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor
nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
renal hamartomas, nephroblastomatosis and fetal gigantism
A viral infectious disease that has_material_basis_in Zika virus, which is transmitted_by Aedes aegypti mosquitoes and targets neural progenitor cells and neuronal cells in all stages of maturity and has_symptom fever, has_symptom rash, has_symptom headaches and has_symptom joint pain.
Zika virus disease
Zika fever
A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities.
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
Shwachman-Diamond type metaphyseal dysplasia
pancreatic insufficiency and bone marrow dysfunction
Shwachman-Diamond syndrome
An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium.
left ventricular hypertrabeculation
left ventricular noncompaction
A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has_material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1.
Goldberg-Shprintzen megacolon syndrome
Goldberg-Shprintzen syndrome
A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule.
oculoauricular syndrome
A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22.
erythrokeratodermia variabilis 3
erythrokeratodermia variabilis, Kamouraska type
mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia
MEDNIK syndrome
A syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23.
SeSAME syndrome
epilepsy, ataxia, sensorineural deafness and tubulopathy
seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance
EAST syndrome
A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22.
Hirschsprung disease mental retardation syndrome
microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease
Mowat-Wilson syndrome
A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss and that has_material_basis_in heterozygous mutation in the DCTN1 gene on chromosome 2p13.
parkinsonism with alveolar hypoventilation and mental depression
Perry syndrome
A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21.
Pitt-Hopkins syndrome
A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene.
Schimke immunoosseous dysplasia
Schimke syndrome
immunoosseous dysplasia Schimke type
spondyloepiphyseal dysplasia - nephrotic syndrome
Schimke immuno-osseous dysplasia
A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy and that has_material_basis_in homozygous mutation in the KLC2 gene on chromosome 11q13.2.
spastic paraplegia, optic atropy, and neuropathy
spastic paraplegia, optic atropy, and neuropathy syndrome
SPOAN syndrome
An egg allergy triggered by Gallus gallus eggs.
Gallus gallus egg allergy
chicken egg allergy
A food allergy triggered by Crustacea or Mollusca.
shellfish allergy
An allergic disease that is located_in the respiratory tract.
airway allergy
respiratory allergy
A respiratory allergy triggered by pollen.
pollen allergy
A pollen allergy triggered by Phleum pratense pollen.
Timothy grass allergy
An autoimmune disease of central nervous system caused by an autoimmune response.
autoimmune neuropathy
An allergic disease that is triggered by a drug.
drug allergy
An allergic disease that is triggered by a metal.
metal allergy
An allergic disease that is located_in the gastrointestinal tract.
gastrointestinal allergy
A food allergy triggered by a plant fruit product.
fruit allergy
A fruit allergy triggered by Malus domestica plant fruit food product.
Malus domestica fruit allergy
apple allergy
A fruit allergy triggered by Prunus armeniaca plant fruit food product.
Prunus armeniaca fruit allergy
apricot allergy
A fruit allergy triggered by Prunus avium plant fruit food product.
Prunus avium fruit allergy
cherry allergy
A fruit allergy triggered by Ziziphus mauritiana plant fruit food product.
Ziziphus mauritiana fruit allergy
Indian plum allergy
A fruit allergy triggered by Citrus sinensis plant fruit food product.
Citrus sinensis fruit allergy
orange allergy
A fruit allergy triggered by Cucumis melo plant fruit food product.
Cucumis melo fruit allergy
melon allergy
A fruit allergy triggered by Prunus persica plant fruit food product.
Prunus persica fruit allergy
peach allergy
A fruit allergy triggered by Prunus domestica plant fruit food product.
Prunus domestica fruit allergy
plum allergy
A fruit allergy triggered by Solanum lycopersicum plant fruit food product.
Solanum lycopersicum fruit allergy
tomato allergy
fish allergy
A fish allergy triggered by Gadus morhua.
Gadus morhua fish allergy
Atlantic cod allergy
A fish allergy triggered by Salmo salar.
Salmo salar fish allergy
Atlantic salmon allergy
A fish allergy triggered by Cyprinus carpio.
Cyprinus carpio fish allergy
carp allergy
A fish allergy triggered by Danio rerio.
Danio rerio allergy
zebrafish allergy
A fish allergy triggered by Oncorhynchus mykiss.
Oncorhynchus mykiss allergy
rainbow trout allergy
A drug allergy triggered by a beta-lactam.
beta-lactam allergy
A beta-lactam allergy triggered by penicillin.
penicillin allergy
A milk allergy triggered by Bos taurus milk.
Bos taurus milk allergy
cow milk allergy
A milk allergy triggered by Capra hircus milk.
Capra hircus milk allergy
goat milk allergy
A shellfish allergy triggered by Mollusca.
mollusc allergy
A shellfish allergy triggered by Crustacea.
crustacean allergy
A crustacean allergy triggered by Farfantepenaeus aztecus.
Farfantepenaeus aztecus allergy
brown shrimp allergy
A crustacean allergy triggered by Scylla paramamosain.
Scylla paramamosain allergy
green mud crab allergy
crab allergy
A crustacean allergy triggered by Fenneropenaeus indicus.
Fenneropenaeus indicus allergy
Indian prawn allergy
A crustacean allergy triggered by Penaeus monodon.
Penaeus monodon allergy
tiger prawn allergy
A crustacean allergy triggered by Litopenaeus vannamei.
Litopenaeus vannamei allergy
white shrimp allergy
snail allergy
A snail allergy triggered by the horned turban snail.
Turbo cornutus allergy
horned turban snail allergy
An allergic disease that is triggered by latex.
latex allergy
An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver.
hepatoid adenocarcinoma
A syndrome mainly characterized by severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11.
WABS
Warsaw breakage syndrome
A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded.
isolated NADH-CoQ reductase deficiency
isolated NADH-coenzyme Q reductase deficiency
isolated NADH-ubiquinone reductase deficiency
isolated mitochondrial respiratory chain complex I deficiency
mitochondrial complex I deficiency
A mitochondrial metabolism disease characerized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23.
isolated mitochondrial respiratory chain complex II deficiency
isolated succinate-CoQ reductase deficiency
isolated succinate-coenzyme Q reductase deficiency
isolated succinate-ubiquinone reductase deficiency
mitochondrial complex II deficiency
A purpura characterized by blood spots, bruising and discoloration of the skin resulting from coagulation in small blood vessels within the skin and rapidly leading to skin necrosis and disseminated intravascular coagulation. It is often fatal.
purpura gangrenosa
purpura fulminans
A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24.
Hermansky-Pudlak syndrome 1
A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1.
Hermansky-Pudlak syndrome 2
A Hermasky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24.
Hermansky-Pudlak syndrome 3
A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1.
Hermansky-Pudlak syndrome 4
A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the HPS5 gene on chromosome 11p14.
Hermansky-Pudlak syndrome 5
A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24.
Hermansky-Pudlak syndrome 6
A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3.
Hermansky-Pudlak syndrome 7
A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13.
Hermansky-Pudlak syndrome 8
A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21.
Hermansky-Pudlak syndrome 9
A breast carcinoma that is characterized by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3.
breast tumor luminal
luminal breast cancer
luminal breast carcinoma A
A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37.
Barber-Say syndrome
A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37.
ablepharon macrostomia syndrome
A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections and has_material_basis_in mutation in the C16ORF57 gene on chromosome 16q13.
poikiloderma with neutropenia, Clericuzio type
poikiloderma with neutropenia
An early-onset Parkinson's disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene on chromosome 1p36.
autosomal recessive Parkinson disease 9
autosomal recessive juvenile onset Parkinson disease 9
Kufor-Rakeb syndrome
An autosomal recessive cerebellar ataxia that is characterized by poor coordination and balance (ataxia) that worsen over time and that has_material_basis_in homozygous mutation in the PIK3R5 gene on chromosome 17p13.
ataxia-oculomotor apraxia 3
ataxia with oculomotor apraxia type 3
A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.
lethal congenital contracture syndrome
A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator GLE1 on chromosome 9q34.
LCCS1
multiple contracture syndrome, Finnish type
lethal congenital contracture syndrome 1
A lethal congenital contracture syndrome that can be that has_material_basis_in homozygous mutation in the ERBB3 gene on chromosome 12q13.
LCCS2
multiple contracture syndrome, Israeli-Bedouin type
lethal congenital contracture syndrome 2
A coronary artery anomaly in which the left coronary artery (LCA) branches off the pulmonary artery instead of the aortic sinus.
ALCAPA
Bland-White-Garland syndrome
White-Garland syndrome
anomalous left coronary artery from the pulmonary artery
A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits.
Char syndrome
A bone disease that is located_in the spine.
spinal disease
A syndrome characterized by craniofacial (prominent occiputal and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.
CCC dysplasia
craniocerebellocardiac dysplasia
A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects.
Holzgreve Wagner Rehder Syndrome
Holzgreve syndrome
Holzgreve-Wagner-Rehder Syndrome
A vasculitis characterised by red, purple, brown or yellow papules (raised spot), plaques, or nodules, found on the backs of the hands, other extensor surfaces overlying joints, and on the buttocks.
erythema elevatum diutinum
An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly.
Cantu syndrome
hypertrichotic osteochondrodysplasia Cantu type
cardiovascular tuberculosis
cardiac tuberculosis
A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24.
A Ritscher-Schinzel syndrome that has_material_basis_in mutation in the CCDC22 gene on chromosome Xp11.
A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has_material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13.
VWD type 1
VWD1
von Willebrand disease type 1
von Willebrand disease type I
A von Willebrand's disease characterized by qualitative but not quantitative abnormalities of the VWF protein that has_material_basis_in mutation in the VWF gene which maps to chromosome 12p13.
VWD type 2
VWD2
von Willebrand disease type 2
von Willebrand disease type II
A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mannan binding lectin serine peptidase 1 gene (MASP1) on chromosome 3q27.
A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25.
A 3MC syndrome that has_material_basis_in a compound heterozygous mutation in the COLEC10 gene on chromosome 8q24.
A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24.
NS1
A Noonan syndrome characterized by hypertrophic obstructive cardiomyopathy and that has_material_basis_in an autosomal recessive inheritance.
NS2
A Noonan syndrome that has_material_basis_in heterozygous mutation in the KRAS gene.
NS3
A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22.
NS4
A Noonan syndrome that has_material_basis_in mutation in the RAF1 gene.
NS5
A Noonan syndrome that has_material_basis_in heterozygous mutation in the NRAS gene on chromosome 1p13.
NS6
A Noonan syndrome that has_material_basis_in heterozygous mutation in the BRAF gene.
NS7
A Noonan syndrome that has_material_basis_in aused by heterozygous mutation in the RIT1 gene on chromosome 1q22.
NS8
A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS2 gene on chromosome 14q21.
NS9
A Noonan syndrome that has_material_basis_in heterozygous mutation in the LZTR1 gene on chromosome 22q11.
NS10
A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21.
cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia
cleidocranial dysplasia-micrognathia-absent thumbs syndrome
A progeroid syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has_material_basis_in homozygous mutation in the ERCC4 gene on chromosome 16p13.
XFEPS
XPF-ERCC1 progeroid syndrome
An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22.
WHIMS
warts, hypogammaglobulinemia, infections, and myelokathexis
warts-hypogammaglobulinemia-infections-myelokathexis syndrome
An adult acute lymphoblastic leukemia occurring in adults and that has_material_basis_in B lymphocytes.
B-cell adult acute lymphocytic leukaemia
adult B acute lymphoblastic leukaemia
adult B acute lymphoblastic leukemia
adult B-lymphoblastic leukaemia
adult B-lymphoblastic leukemia
adult b-cell acute lymphoblastic leukaemia
adult b-cell acute lymphoblastic leukemia
adult b-cell lymphocytic leukaemia
adult b-cell lymphocytic leukemia
A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene.
aCML
atypical CML
atypical chronic myeloid leukaemia
atypical chronic myeloid leukaemia BCR-ABL1 negative
atypical chronic myeloid leukemia BCR-ABL1 negative
atypical chronic myeloid leukemia, BCR-ABL1 negative
A syndrome that has_material_basis_in mutation in the NHS gene on chromosome Xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies.
A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes.
antiplasmin defiency
plasmin inhibitor deficiency
A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1.
AMACR deficiency
alpha-methylacyl-CoA racemase deficiency
An anhidrosis that has_material_basis_in homozygous mutation in the ITPR2 gene on chromosome 12p11.
Dann-Epstein-Sohar syndrome
isolated anhidrosis with normal sweat glands
A tongue disease characterized by an unusually short, thick lingual frenulum, a membrane connecting the underside of the tongue to the floor of the mouth.
tongue-tie
A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy.
A microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2.
Taybi-Linder syndrome
brachymelic primordial dwarfism
cephaloskeletal dysplasia
low-birth-weight dwarfism with skeletal dysplasia
osteodysplastic primordial dwarfism type I
microcephalic osteodysplastic primordial dwarfism type I
A microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly.
Majewski osteodysplastic primordial dwarfism type II
osteodysplastic primordial dwarfism type II
microcephalic osteodysplastic primordial dwarfism type II
A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis.
Berdon syndrome
Megacystis microcolon intestinal hypoperistalsis syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH
visceral myopathy
megacystis-microcolon-intestinal hypoperistalsis syndrome
A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease.
abdominal obesity-metabolic syndrome
An abdominal obesity-metabolic syndrome that has_material_basis_in heterozygous mutation in the DYRK1B gene on chromosome 19q13.
A cleft palate that has_material_basis_in mutation in the TBX22 gene on chromosome Xq21.
X-linked cleft palate and ankyloglossia
X-linked cleft palate with or without ankyloglossia
A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in the TBX3 gene.
Pallister ulnar-mammary syndrome
Schinzel syndrome
A neonatal diabetes that is characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life, and that has_material_basis_in homozygous or compound heterozygous mutations in the GLIS3 gene on chromosome 9p24.
NDH syndrome
neonatal diabetes mellitus with congenital hypothyroidism
A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene.
PDMI
PNDM
permanent diabetes mellitus of infancy
A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compound heterozygous mutation in the ETHE1 gene, which encodes a mitochondrial matrix protein, on chromosome 19q13.
A syndrome that is characterized by multiple congenital defects in endocrine, cerebral, and skeletal systems leading to neonatal mortality; it has_material_basis_in mutation in the gene encoding intestinal cell kinase.
ECO syndrome
endocrine-cerebro-osteodysplasia syndrome
An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21.
RDEB, Hallopeau-Siemens type
autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
severe generalized RDEB
severe generalized recessive dystrophic epidermolysis bullosa
recessive dystrophic epidermolysis bullosa
A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension.
A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia.
Nivelon-Nivelon-Mabille syndrome
chondrodysplasia-disorder of sex development syndrome
chondrodysplasia-pseudohermaphroditism syndrome
An osteomyelitis characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine.
CRMO
chronic multifocal osteomyelitis
chronic recurrent multifocal osteomyelitis
A pleural disease characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life.
A syndrome that has_material_basis_in homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin.
cocoon syndrome
An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye.
anterior segment developmental anomaly
corneal opacification and other ocular anomalies
sclerocornea with other ocular anomalies
A corneal endothelial dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene, which encodes a sodium borate cotransporter, on chromosome 20p13 and is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane.
CHED
congenital hereditary endothelial dystrophy of cornea
An amino acid metabolic disorder that is characterised by an excess urinary excretion of aspartate and glutamate acidic amino acids.
glutamate-aspartate transport defect
A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract.
A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO.
ECYT1
autosomal dominant benign erythrocytosis
primary familial and congenital polycythemia
A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13.
Israeli Bedouin type B multiple contracture syndrome
lethal congenital contracture syndrome 3
A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the MYBPC1 gene on chromosome 12q23.
lethal congenital contracture syndrome 4
An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization.
ARCI
lamellar ichthyosis
non bullous congenital ichthyosiform erythroderma
autosomal recessive congenital ichthyosis
An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2.
ARCI1
bathing suit ichthyosis
autosomal recessive congenital ichthyosis 1
A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp.
anencephaly
A cerebrovascular disease that is characterized by dilated blood-filled capillaries lacking structural support.
cavernous angiomatous malformations
cerebral capillary malformations
familial cavernous angioma
A cerebral cavernous malformation that has_material_basis_in mutation in the CCM2 gene on chromosome 7p13.
A cerebral cavernous malformation that has_material_basis_in mutation in the PDCD10 gene on chromosome 3q26.1.
cerebral cavernous malformation 3
A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31.
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3.
A heart conduction disease characterized by adrenergically induced ventricular tachycardia manifesting as syncope and sudden death during exercise, stress or catecholamine infusion without the presence of structural cardiac abnormalities.
catecholaminergic polymorphic ventricular tachycardia
A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the RYR2 gene on chromosome 1q43.
CVPT1
arrhythmogenic right ventricular dysplasia 2
catecholaminergic polymorphic ventricular tachycardia 1
A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the CASQ2 gene on chromosome 1p13.
CVPT2
catecholaminergic polymorphic ventricular tachycardia 2
A catecholaminergic polymorphic ventricular tachycardia that is characterized by early onset mortality and has_material_basis_in variation in the chromosomal region 7p22-p14.
CVPT3
catecholaminergic polymorphic ventricular tachycardia 3
A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CALM1 gene on chromosome 14q32.
CVPT4
catecholaminergic polymorphic ventricular tachycardia 4
A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the TRDN gene on chromosome 6q22.
CVPT5
catecholaminergic polymorphic ventricular tachycardia 5
An eye disease characterized by slit-like depigmented areas of the iris with up to 50% of patients going on to develop glaucoma.
glaucoma-related pigment dispersion syndrome
pigment-dispersion type glaucoma
A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations.
ENFL
autosomal dominant nocturnal frontal lobe epilepsy
An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13.
ENFL1
nocturnal frontal lobe epilepsy 1
autosomal dominant nocturnal frontal lobe epilepsy 1
An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in variation in the chromosome region 15q24.
ENFL2
nocturnal frontal lobe epilepsy 2
autosomal dominant nocturnal frontal lobe epilepsy 2
An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21.
ENFL3
nocturnal frontal lobe epilepsy 3
autosomal dominant nocturnal frontal lobe epilepsy 3
An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21.
ENFL4
nocturnal frontal lobe epilepsy 4
autosomal dominant nocturnal frontal lobe epilepsy 4
An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34.
ENFL5
nocturnal frontal lobe epilepsy 5
autosomal dominant nocturnal frontal lobe epilepsy 5
A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain.
cerebral arteriovenous malformation
intracranial arteriovenous malformation
arteriovenous malformations of the brain
An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that has_material_basis_in mutations in the HR gene on chromosome 8p21.3.
papular atrichia
An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q.
AUNA1
NSDAN
nonsyndromic dominant auditory neuropathy
autosomal dominant auditory neuropathy 1
A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.
autosomal dominant Glanzmann thrombasthenia
autosomal dominant thrombasthenia of Glanzmann and Naegeli
A blood platelet disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q.
ADP platelet receptor P2Y12 defect
P2Y12 defect
An amino acid metabolic disorder characterized by recessive X-linked inhetiance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the MAOA gene on chromosome Xp11.
monoamine oxidase A deficiency
An autosomal recessive cerebellar ataxia characterized by marked autosomal recessive inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retinal abnormalities that has_material_basis_in mutation in the ATCAY gene on chromosome 19p13.3.
Cayman cerebellar ataxia
A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia.
Kok disease
congenital stiff man syndrome
familial startle disease
hereditary hyperekplexia
startle disease
A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.
HKPX1
A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32.
HKPX2
A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15.
HKPX3
A hypercalcemia characterized byautosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion.
FBH
FBHH
FHH
familial benign hypercalcemia
familial benign hypocalciuric hypercalcemia
A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21.
FHH type 1
HHC1
familial benign hypercalcemia 1
familial hypocalciuric hypercalcemia type I
hypocalciuric hypercalcemia type I
A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13.
FHH type 2
HHC2
familial hypocalciuric hypercalcemia type 2
hypocalciuric hypercalcemia type II
A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13.
FHH type 3
HHC3
familial hypocalciuric hypercalcemia type 3
hypocalciuric hypercalcemia type III
A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3.
FGFR3-related craniosynostosis
A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection.
Combined immunodeficiency due to ITK deficiency
A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25.
XLP1
A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the XIAP gene on chromosome Xq25.
XIAP deficiency
XLP2
A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32.
LPFS1
A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutation in the CD27 gene on chromosome 12p13.
CD27 deficiency
LPFS2
An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13.
ARCI2
BROCQ congenital ichthyosiform erythroderma nonbullous form
NCIE1
nonbullous congenital ichthyosiform erythroderma 1
autosomal recessive congenital ichthyosis 2
An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has_material_basis_in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13.
ARCI3
lamellar ichthyosis 5
autosomal recessive congenital ichthyosis 3
An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound hetrezogyous mutation in the ABCA12 gene on chromosome 2q35.
ARCI4A
ICR2B
ichthyosis congenita IIB
lamellar ichthyosis 2
autosomal recessive congenital ichthyosis 4A
An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears. constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35.
ARCI4B
harlequin ichthyosis
harlequin type ichthyosis congenita
harlequin type ichthyosis fetalis
autosomal recessive congenital ichthyosis 4B
An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13.
ARCI5
autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis
autosomal recessive congenital ichthyosis 5
An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33.
ARCI6
autosomal recessive congenital ichthyosis 6
An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has_material_basis_in variation in the chromosome region 12p11.2-q13.1.
ARCI7
autosomal recessive congenital ichthyosis 7
An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23.
ARCI8
lamellar ichthyosis 4
late-onset lamellar ichthyosis
autosomal recessive congenital ichthyosis 8
An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26.
ARCI9
autosomal recessive congenital ichthyosis 9
An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21.
ARCI10
autosomal recessive congenital ichthyosis 10
An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24.
IFAH syndrome
IHS
autosomal recessive ichthyosis with hypotrichosis
hypotrichosis-congenital ichthyosis syndrome
ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis
ichthyosis-follicular atrophoderma-hypotrichosis syndrome
ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome
ichthyosis-hypotrichosis syndrome
autosomal recessive congenital ichthyosis 11
A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 1p24.
NGLY1-CDDG
congenital disorder of deglycosylation
congenital disorder of glycosylation type Iv
deficiency of N-glycanase 1
A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34.
dystonia musculorum deformans
An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes.
CCHS
Ondine curse
Ondine syndrome
central congenital hypoventilation syndrome
congenital central alveolar hypoventilation syndrome
congenital central hypoventilation syndrome
A chromosomal deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9.
9p syndrome
Alfi syndrome
monosomy 9p syndrome
A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes.
Carmi syndrome
JEB-PA
epidermolysis bullosa junctionalis with pyloric atresia
junctional epidermolysis bullosa-pyloric atresia syndrome
junctional epidermolysis bullosa with pyloric atresia
An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases.
EBS-gen sev
EBSDM
epidermolysis bullosa herpetiformis Dowling-Meara type
epidermolysis bullosa simplex, herpetiformis
generalized severe epidermolysis bullosa simplex
epidermolysis bullosa simplex Dowling-Meara type
An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24.
EBS-O
EBS-Og
EBSOG
A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa.
Herlitz type epidermolysis bullosa junctionalis
Herlitz-Pearson-type epidermolysis bullosa
JEB-H
JEB-Herlitz type
epidermolysis bullosa letalis
junctional epidermolysis bullosa generalisata gravis
junctional epidermolysis bullosa, Herlitz-Pearson type
junctional epidermolysis bullosa Herlitz type
A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa.
GABEB
JEB-nH gen
JEN-nH
generalized atrophic benign epidermolysis bullosa
generalized junctional epidermolysis bullosa, non-Herlitz type
junctional epidermolysis bullosa generalisata mitis
junctional epidermolysis bullosa, Disentis type
junctional epidermolysis bullosa non-Herlitz type
A syndrome characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15.
HFGS
hand-foot-uterus syndrome
A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3.
methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
methylmalonic aciduria mut type
vitamin B12-unresponsive methylmalonic aciduria
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the CD320 gene.
methylmalonic acidemia, TCblR type
methylmalonic aciduria due to transcobalamin receptor defect
methylmalonic acidemia due to transcobalamin receptor defect
A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAA gene on chromosome 4q31.
methylmalonic aciduria cblA type
methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type
A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAB gene on chromosome 12q24.
methylmalonic aciduria cblB type
methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type
A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q.
TDH2B
congenital hypothyroidism due to dyshormonogenesis 2B
deafness with goiter
genetic defect in thyroid hormonogenesis 2B
goiter-deafness syndrome
thyroid dyshormonogenesis 2B
A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that has_material_basis_in mutations in the EFEMP1 gene on chromosome 2p16.
DHRD
Doyne honeycomb degeneration of retina
A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3.
cuticular drusen
drusen of bruch membrane
early adult-onset grouped drusen
A syndrome characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13.
DR syndrome
Duane anomaly with radial ray abnormalities and deafness
Okihiro syndrome
acrorenocular syndrome
A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24.
ETL1
partial epilepsy with auditory features
A temporal lobe epilepsy that has_material_basis_in variation in the chromosome region 3q25-q26.
ETL6
A temporal lobe epilepsy characterized by simple or complex partial seizures often accompanied by intense feelings of deja or altered awareness and that has_material_basis_in variation in the chromosome region 4q13.2-q21.3.
FMTLE
familial mesial temporal lobe epilepsy
A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has_material_basis_in heterozygous mutation in the RELN gene on chromosome 7q22.
ETL7
A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13.
ETL5
A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has_material_basis_in variation in the chromosome region 9q21-q22.
EPOLM
ETL4
occipitotemporal lobe epilepsy and migraine with aura
A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has_material_basis_in heterozygous mutation in the GAL gene on chromosome 11q13.
ETL8
A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has_material_basis_in variation in the chromosome region 12q22-q23.3.
ETL2
A sclerosteosis that has_material_basis_in homozygous mutation in the SOST gene on chromosome 17q21.
SOST1
A sclerosteosis that has_material_basis_in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11.
SOST2
A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13.
AID deficiency
HIGM2
activation-induced cytidine deaminase deficiency
hyper-IgM syndrome type 2
A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1.
HIGM5
hyper-IgM syndrome 5
hyper-IgM syndrome due to UNG deficiency
hyper-IgM syndrome due to uracil N-glycosylase
A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process.
HIGM4
hyper-IgM syndrome type 4
A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome).
familial CML-like syndrome
familial chronic myelocytic leukemia-like syndrome
A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs may include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life.
hyperkeratosis-contracture syndrome
lethal restrictive dermopathy
tight skin contracture syndrome
A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that has_material_basis_in the RS1 gene on chromosome Xp22.
X-linked juvenile retinoschisis
X-linked retinoschisis
XLRS
A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22.
COVESDEM syndrome
RRS
costovertebral segmentation defect-mesomelia syndrome
A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36.
DRS2
A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p.
DRS1
A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27.
DRS3
A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material_basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region.
17p11.2 microdeletion syndrome
chromosome 17p11.2 deletion syndrome
A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12.
alymphoid cystic thymic dysgenesis
severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome
winged helix deficiency
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle.
D-TGA
congenitally uncorrected transposition of the great arteries
congenitally uncorrected transposition of the great vessels
isolated ventriculoarterial discordance
ventriculoarterial discordance with atrioventricular concordance
dextro-looped transposition of the great arteries
A congenital heart disease that is characterized by a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial discordance and that has_material_basis_in heterozygous mutation in the GDF1 gene on chromosome 19p13.
DTGA3
dextro-looped transposition of the great arteries 3
multiple types of congenital heart defects 6
A syndrome characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has_material_basis_in homozygous mutation in the NECTIN1 gene on chromosome 11q23.
CLPED1
Margarita type of ectodermal dysplasia
Zlotogora-Zilberman-Tenenbaum syndrome
cleft lip/palate-syndactyly-pili torti syndrome
syndactyly-ectodermal dysplasia-cleft/lip palate
cleft lip-palate-ectodermal dysplasia syndrome
A diarrhea that is characterized by frequent loose or liquid bowel movements where the disease is present from birth.
A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that has_material_basis_in homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21.
Davidson disease
MVD
congenital familial protracted diarrhea with enterocyte brush-border abnormalities
congenital microvillus atrophy
diarrhea 2 with microvillus atrophy
intractable diarrhea of infancy
A congenital diarrhea characterized by intractable diarrhea of infancy with villous atrophy, absence of inflammation, and intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum that has_material_basis_in homozygous or compound heterozygous mutation in the EPCAM gene on chromosome 2p21.
DIAR5
congenital diarrhoea 5 with tufting enteropathy
congenital familial intractable diarrhea with epithelial or epithelium abnormalities
congenital familial intractable diarrhoea with epithelial or epithelium abnormalities
congenital tufting enteropathy
tufting enteropathy
congenital diarrhea 5 with tufting enteropathy
A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC9A3 gene on chromosome 5p15.
DIAR8
A congenital diarrhea characterized by watery diarrhea, protein-losing enteropathy, patchy areas of dystrophic microvilli in the duodenum and patchy areas of villous atrophy that has_material_basis_in homozygous mutation in the DGAT1 gene on chromosome 8q24.3.
congenital chronic diarrhea with exudative enteropathy
congenital chronic diarrhea with protein-losing enteropathy
congenital chronic diarrhoea with exudative enteropathy
congenital chronic diarrhoea with protein-losing enteropathy
congenital diarrhoea 7 with exudative enteropathy
congenital diarrhea 7 with exudative enteropathy
A congenital diarrhea characterized by chronic unremitting malabsorptive diarrhea and a profound dysgenesis of the enteroendocrine cells that has_material_basis_in mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3.
congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
congenital malabsorptive diarrhoea 4
congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells
enteric anendocrinosis
A congenital diarrhea characterized by mild, early-onset chronic diarrhea that has_material_basis_in heterozygous mutation in the GUCY2C gene on chromosome 12p12.
chronic diarrhea due to guanylate cyclase 2C overactivity
chronic diarrhoea due to guanylate cyclase 2C overactivity
congenital diarrhoea 6
A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SPINT2 gene on chromosome 19q13.
congenital secretory sodium diarrhea 3 syndromic
congenital secretory sodium diarrhea 3 with or without other congenital anomalies
congenital secretory sodium diarrhoea 3
congenital secretory sodium diarrhoea 3 syndromic
congenital secretory sodium diarrhoea 3 with or without other congenital anomalies
A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate).
Rudiger syndrome 1
Walker-Clodius syndrome
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome
ectrodactyly-ectodermal dysplasia-clefting syndrome
An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28.
EEC syndrome 3
EEC3
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
An EEC syndrome characterized by autosomal dominant inheritance that has_material_basis_in variation in the chromosome region 7q11.2-q21.3.
EEC syndrome 1
EEC1
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
A leukodystrophy characterized by onset in the 4th or 5th decade of life of autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS that has_material_basis_in heterozygous tandem genomic duplication resulting in an extra copy of the LMNB1 gene on chromosome 5q.
ADLD
adult-onset autosomal dominant leukodystrophy
autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease
adult-onset autosomal dominant demyelinating leukodystrophy
A leukodystrophy characterized by T2 hyperintensity and T1 iso- or hyperintensity of affected white matter in the central nervous system.
HLD
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42.
HLD2
PMLD1
Pelizaeus-Merzbacher-like disease 1
Pelizaeus-Merzbacher-like disease due to GJC2 mutation
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has_material_basis_in homozygous mutation in the PYCR2 gene on chromosome 1q42.
HLD10
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33.
HLD4
MitCHAP60 disease
Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
mitochondrial HSP60 chaperonopathy
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24.
HLD3
Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has_material_basis_in compound heterozygous mutation in the RARS gene on chromosome 5q34.
HLD9
RARS-related autosomal recessive hypomyelinating leukodystrophy
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21.
HLD11
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15.
HLD5
hypomyelination-congenital cataract syndrome
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22.
HLD7
TACH syndrome
ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy
dentoleukoencephalopathy
hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
leukodystrophy with oligodontia
leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
tremor-ataxia-central hypomyelination syndrome
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities that has_material_basis_in homozygous mutation in the C11ORF73 gene on chromosome 11q14.
HLD13
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23.
HLD12
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has_material_basis_in compound heterozygous mutation in the POLR3B gene on chromosome 12q23.
HLD8
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has_material_basis_in heterozygous mutation in the TUBB4A gene on chromosome 19p13.
H-ABC
HABC
HLD6
hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum
hypomyelination with atrophy of basal ganglia and cerebellum
A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28.
Lubs X-linked mental retardation syndrome
MECP2 duplication syndrome
MRXSL
X-linked intellectual disability-hypotonia-recurrent Infections syndrome
mental retardation, X-linked, syndromic, Lubs type
mental retardation, X-linked, with recurrent respiratory infections
syndromic X-linked intellectual disability Lubs type
A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including; choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22.
Fried syndrome
MRX59
MRXS21
Mental retardation, X-linked syndromic 5
Pettigrew syndrome
X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
X-linked mental retardation 59
X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures
syndromic X-linked mental retardation 21
syndromic X-linked mental retardation Fried type
syndromic X-linked intellectual disability 5
A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in variation in the chromosome region Xp22.13-p21.1.
MRXS20
MRXS25
X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome
mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
syndromic X-linked mental retardation 20
syndromic X-linked mental retardation 25
A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the SMS gene on chromosome Xp22.
SRS
Snyder-Robinson mental retardation syndrome
Snyder-Robinson syndrome
mental retardation, X-linked, Snyder-Robinson type
spermine synthase deficiency
syndromic X-linked intellectual disability Snyder type
A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has_material_basis_in variation in the chromosome region Xp21.1-p11.23.
X-linked mental retardation with alacrima and achalasia
intellectual disability-alacrima-achalasia syndrome
mental retardation, X-linked, syndromic 17
syndromic X-linked intellectual disability 17
A syndromic X-linked intellectual disability characterized by severe intellectual deficit, mutism, epilepsy, growth retardation or failure and recurrent infections that has_material_basis_in variation in the chromosome region Xp11.
X-linked intellectual disability, Wilson type
mental retardation, X-linked, syndromic 12
syndromic X-linked intellectual disability 12
A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in variation in the chromosome region Xp11-q21.
Prieto-Badia-Mulas syndrome
X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11.
MRXE
MRXSH
X-linked mental retardation with epilepsy
mental retardation, X-linked, syndromic, Hedera type
syndromic X-linked intellectual disability Hedera type
A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11.
MICPCH
X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome
mental retardation and microcephaly with pontine and cerebellar hypoplasia
syndromic X-linked intellectual disability Najm type
A syndromic X-linked intellectual disability characterized by intellectual deficit, obesity, hypogonadism, and tapering fingers that has_material_basis_in variation in the chromosome region Xp11.3-q22.
MRXS7
X-linked intellectual disability, Ahmad type
mental retardation, X-linked syndromic 7
syndromic X-linked intellectual disability 7
A syndromic X-linked intellectual disability characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems that has_material_basis_in mutation in the KDM5C gene on chromosome Xp11.
MRXSCJ
MRXSJ
mental retardation, X-linked, syndromic, Claes-Jensen type
syndromic X-linked intellectual disability due to JARID1C mutation
syndromic X-linked mental retardation JARID1C-related
syndromic X-linked intellectual disability Claes-Jensen type
A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22.
HSD10 deficiency, atypical type
HSD10 disease, atypical type
MRXS10
X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome
mental retardation, X-linked syndromic 10
syndromic X-linked intellectual disability type 10
A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has_material_basis_in mutation in the HUWE1 gene on chromosome Xp11.22.
Brooks-Wisniewski-Brown syndrome
MRXST
X-linked intellectual disability, Brooks type
mental retardation and macrocephaly syndrome
mental retardation, X-linked syndromic, Turner type
syndromic X-linked intellectual disability Turner type
A syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that has_material_basis_in mutation in the PHF8 gene on chromosome Xp11.22.
MRXSSD
Siderius X-linked mental retardation syndrome
Siderius-Hamel syndrome
mental retardation syndrome, X-linked, Siderius type
syndromic X-linked intellectual disability Siderius type
A syndromic X-linked intellectual disability characterized by evere mental retardation, microcephaly, speech delay and variable short stature that has_material_basis_in variation in the chromosomal region Xq12-q21.31.
MRXS9
mental retardation, X-linked, syndromic 9
syndromic X-linked intellectual disability Shrimpton type
A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has_material_basis_in hemizygous mutation in the LAS1L gene on chromosome Xq12.
MRXS6
WTS
X-linked intellectual disability-gynecomastia-obesity syndrome
mental retardation, X-linked, syndromic 6
mental retardation, X-linked, with gynecomastia and obesity
A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22.
MCS
MRXS4
X-linked intellectual disability, Miles-Carpenter type
mental retardation, X-linked, syndromic 4
mental retardation, X-linked, with congenital contractures and low fingertip arches
A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1.
Graham-Cox syndrome
MRXS28
corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia
mental retardation, X-linked, syndromic 28
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has_material_basis_in mutation in the NONO gene on chromosome Xq13.
MRXS34
MRXSML
macrocephaly-intellectual disability-left ventricular non compaction syndrome
mental retardation, X-linked, syndromic 34
syndromic X-linked mental retardation Mircsof-Langouet type
syndromic X-linked intellectual disability 34
A syndromic X-linked intellectual disability characterized by intellectual disability with variable occurrence of short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes that has_material_basis_in variation in the chromosomal region Xq13.2.
MRXSAB
mental retardation, X-linked syndromic, Abidi type
syndromic X-linked mental retardation Abidi type
syndromic X-linked intellectual disability Abidi type
A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region Xq21.33-q23.
MRXSCS
X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance
mental retardation, X-linked, syndromic, Chudley-Schwartz type
syndromic X-linked intellectual disability Chudley-Schwartz type
A syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has_material_basis_in mutation in the UBE2A gene on chromosome Xq24.
X-linked intellectual disability-nail dystrophy-seizures syndrome
mental retardation, X-linked syndromic, Nascimento-type
syndromic X-linked intellectual disability Nascimento type
A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has_material_basis_in mutation in the UPF3B gene on chromosome Xq24.
mental retardation, X-linked, syndromic 14
syndromic X-linked intellectual disability 14
A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and bnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the CUL4B gene on chromosome Xq23.
Cabezas syndrome; syndromic X-linked mental retardation 15
MRSS
MRXS15
MRXSC
X-linked mental retardation with short stature
X-linked mental retardation with short stature, hypogonadism, and abnormal gait
mental retardation, X-linked, syndromic 15
mental retardation, X-linked, syndromic 15 (Cabezas type)
syndromic X-linked intellectual disability Cabezas type
A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25.
MRX94
MRXS29
mental retardation, X-linked 94
syndromic X-linked intellectual disability due to GRIA3 anomalies
syndromic X-linked mental retardation 29
syndromic X-linked mental retardation Wu type
syndromic X-linked intellectual disability 94
A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has_material_basis_in mutation in the ZDHHC9 gene on chromosome Xq26.1.
MRXSR
X-linked syndromic intellectual developmental disorder Raymond type
mental retardation, X-linked syndromic, Raymond type
syndromic X-linked intellectual disability Raymond type
A syndromic X-linked intellectual disability characterized by severe developmental delay, intellectual disability, microcephaly, impaired speech, ataxia, hypotonia and early-onset seizures that has_material_basis_in mutation in the SLC9A6 gene on chromosome Xq26.
MRXSCH
X-linked Angelman-like syndrome
X-linked intellectual disability, South African type
X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome
mental retardation, X-linked syndromic, Christianson type
mental retardation, microcephaly, epilepsy, and ataxia syndrome
A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26.
MRXS11
SMRXS
Shashi X-linked mental retardation syndrome
X-linked mental retardation Shashi type
mental retardation, X-linked, syndromic 11, Shashi type
syndromic X-linked intellectual disability type 11
syndromic X-linked intellectual disability Shashi type
A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28.
Lindsay-Burn syndrome
MRXS13
PPM-X
X-linked mental retardation 79
X-linked mental retardation with spasticity
mental retardation with psychosis, pyramidal signs, and macroorchidism
mental retardation, X-linked, syndromic 13
X-linked intellectual disability-psychosis-macroorchidism syndrome
A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has_material_basis_in mutation in the CLIC2 gene on chromosome Xq28.
MRXS32
mental retardation, X-linked, syndromic 32
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has_material_basis_in variation on the X chromosome.
Martin-Probst syndrome
mental retardation, X-linked, syndromic, Martin-Probst type
deafness-intellectual disability, Martin-Probst type syndrome
An integumentary system disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin.
Chediak-Higashi-like syndrome
Griscelli-Prunieras syndrome
partial albinism-immunodeficiency syndrome
A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2.
GS1
Griscelli syndrome with neurological impairment
Griscelli syndrome, cutaneous and neurological type
Griscelli-Prunieras syndrome type 1
hypopigmentation-neurologic impairment syndrome
A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3.
GS2
Griscelli syndrome with hemophagocytic syndrome
Griscelli-Prunieras syndrome type 2
PAID syndrome
hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
partial albinism and immunodeficiency syndrome
A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has_material_basis_in mutation in the MLPH or MYO5A genes.
GS3
Griscelli-Prunieras syndrome type 3
An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37.
MCOP6
posterior nonsyndromic microphthalmia
An isolated microphthalmia that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22.
MCOP4
An isolated microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23.
MCOP5
microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen
An isolated microphthalmia characterized by unilateral microphthalmia that has_material_basis_in caused by mutation in the GDF3 gene on chromosome 12p13.
MCOP7
An isolated microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24.
MCOP2
An isolated microphthalmia that has_material_basis_in variation in the chromosomal region 14q32.
MCOP1
An isolated microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26.
MCOP8
An isolated microphthalmia characterized by clinical anophthalmia and/or microphthalmia that has_material_basis_in compound heterozygous mutation in the RAX gene on chromosome 18q21.
MCOP3
A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12.
HNPP
current pressure-sensitive neuropathy
familial recurrent polyneuropathy
heterozygous microdeletion 17p11.2p12
potato-grubbing palsy
tomaculous neuropathy
tulip-bulb digger's palsy
hereditary neuropathy with liability to pressure palsies
A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11.
Episkopi blindness
Norrie-Warburg disease
atrophia bulborum hereditaria
An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain.
A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22.
EFMR
EIEE9
Juberg Hellman syndrome
early infantile epileptic encephalopathy 9
early infantile female-limited epilecptic encephalopathy
female restricted epilepsy with mental retardation
developmental and epileptic encephalopathy 9
A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13.
OPPG
ocular form of osteogenesis imperfecta
A pancreas disease characterized by autosomal dominant inheritance of the annular pancreas (head of the pancreas forming a ring around the second portion of the duodenum) and duodenal stenosis.
A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance.
familial pemphigus vulgaris
A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 on chromosome 3p21.
microcoria-congenital nephrosis syndrome
A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in duplication of a region of chromosome 17p11.2.
17p11.2 microduplication syndrome
chromosome 17p11.2 duplication syndrome
trisomy 17p11.2
A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G.
PHA1B
autosomal recessive PHA 1
autosomal recessive pseudohypoaldosteronism type 1
A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31.
PHA1A
autosomal dominant PHA 1
autosomal dominant pseudohypoaldosteronism type 1
A visceral heterotaxy that is characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12.
Ivemark syndrome
asplenia with cardiovascular anomalies
A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in mutation in the HESX1 gene on chromosome 3p14.
De Morsier syndrome
SOD
septo-optic dysplasia
A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.
cystinuria with mitochondrial disease
hypotonia-cystinuria syndrome
A primary bacterial infectious disease caused by the bacteria of the genus Salmonella. It has sypmtoms diarrhea, fever, vomiting, and abdominal cramps 12 to 72 hours after infection. In most cases, the illness lasts four to seven days, and most people recover without treatment.
Salmonella infection
A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has_material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24.
MLA
OAS
Waardenburg anophthalmia syndrome
anophthalmia-syndactyly syndrome
ophthalmoacromelic syndrome
microphthalmia with limb anomalies
A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has_material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24.
Meleda disease
keratosis palmoplantaris transgrediens of Siemens
transgrediens palmoplantar keratoderma of Siemens
mal de Meleda
A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped.
patterned dystrophy of retinal pigment epithelium
A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the CTNNA1 gene on chromosome 5q31.
MDPT2
butterfly-shaped pigmentary maculary dystrophy 2
A patterned macular dystrophy characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina developing in the fourth or fifth decade of life that has_material_basis_in heterozygous mutation in the MAPKAPK3 gene on chromosome 3p21.
MDPT3
Martinique crinkled retinal pigment epitheliopathy
A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the PRPH2 gene on chromosome 6p21.
MDPT1
butterfly-shaped pigmentary maculary dystrophy 1
A syndrome characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has_material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23.
macrocephaly-intellectual disability-autism syndrome
A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood that has_material_basis_in homozygous or compound heterozygous mutation in any of the 5 genes encoding subunits of the translation initiation factor EIF2B: EIF2B1 on chromosome 12q24, EIF2B2 on chromosome 14q24, EIF2B3 on chromosome 1p34, EIF2B4 on chromosome 2p23, or EIF2B5 on chromosome 3q27.
CACH
Cree leukoencephalopathy
childhood ataxia with central nervous system hypomyelination
vanishing white matter leukodystrophy
leukoencephalopathy with vanishing white matter
A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has_material_basis_in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23.
LORD
autosomal dominant late-onset retinal degeneration
A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones.
IGHD
congenital IGHD
congenital isolated GH deficiency
congenital isolated growth hormone deficiency
familial isolated growth hormone deficiency
non-acquired isolated growth hormone deficiency
A syndrome characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q.
autosomal dominant KID syndrome
autosomal dominant keratitis-ichthyosis-deafness syndrome
An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has_material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3.
IGHD II
autosomal dominant isolated growth hormone deficiency
autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency
congenital IGHD type II
congenital isolated GH deficiency type II
congenital isolated growth hormone deficiency type II
isolated growth hormone deficiency type II
An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has_material_basis_in null mutations in the GH1 gene on chromosome 17q23.3.
IGHD IA
Illig-type growth hormone deficiency
autosomal recessive isolated growth hormone deficiency
pituitary dwarfism I
primordial dwarfism
sexual ateleiotic dwarfism
isolated growth hormone deficiency type IA
An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has_material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.
IGHD IB
congenital IGHD type IB
congenital isolated GH deficiency type IB
congenital isolated growth hormone deficiency type IB
dwarfism of Sindh
isolated growth hormone deficiency type IB
An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has_material_basis_in mutation in the BTK gene on chromosome Xq22.1.
Fleisher syndrome
IGHD III
X-linked IGHD
X-linked agammaglobulinemia and isolated growth hormone deficiency
X-linked hypogammaglobulinemia and isolated growth hormone deficiency
X-linked isolated growth hormone deficiency
congenital IGHD type III
congenital isolated GH deficiency type III
congenital isolated growth hormone deficiency type III
growth hormone deficiency with hypogammaglobulinemia
isolated growth hormone deficiency type III
An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13.
bullous type ichthyosis
ichthyosis bullosa of Siemens
superficial epidermolytic ichthyosis
bullous congenital ichthyosiform erythroderma
A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14.
Barakat syndrome
HDR syndrome
hypoparathyroidism, sensorineural deafness, and renal disease
hypoparathyroidism-deafness-renal disease syndrome
A metal metabolism disorder characterized by very low serum magnesium levels often with secondary hypocalcemia with onset typically in the first months of life.
HOMG
primary familial hypomagnesemia
A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28.
FHHNC without severe ocular involvement
HOMG3
familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
isolated renal hypomagnesemia
primary hypomagnesemia due to defect in renal tubular transport of magnesium
renal hypomagnesemia type 3
A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has_material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2.
FHHNC with severe ocular involvement
Meier-Blumberg-Imahorn syndrome
bilateral macular coloboma with hypercalciuria
familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement
hypercalciuria-bilateral macular coloboma syndrome
renal hypomagnesemia 5 with ocular involvement
A hypomagnesemia characterized by isolated hypomagnesemia due to renal loss with normal serum calcium levels and urinary calcium excretion that has_material_basis_in variation in the chromosome region 4q25.
HOMG4
A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorbtion and kidney excretion and secondary hypocalcemia that has_material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21.
HOMG1
hypomagnesemia caused by selective magnesium malabsorption
hypomagnesemia intestinal type 1
hypomagnesemic tetany
intestinal hypomagnesemia with secondary hypocalcemia
primary hypomagnesemia with secondary hypocalcemia
A hypomagnesemia characterized by autosomal dominant inheritance of severely lowered serum magnesium levels without other electrolyte disturbances or abnormalities in urinary magnesium excretion that has_material_basis_in heterozygous mutation in the CNNM2 gene on chromosome 10q24.
HOMG6
A hypomagnesemia characterized by autosomal dominant inheritance of hypomagnesemia due to renal magnesium loss that has_material_basis_in heterozygous mutation in the FXYD2 gene on chromosome 11q23.
HOMG2
autosomal dominant primary hypomagnesemia with hypocalciuria
An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has_material_basis_in mutation in the AMER1 gene on chromosome Xq11.
Robinow-Unger syndrome
hyperostosis generalisata with striations
osteopathia striata with cranial sclerosis
A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia.
OPLL
ossification of the posterior longitudinal ligament of spine
A myeloproliferative neoplasm characterized by leukocytosis in newborns with Down syndrome.
MST
TAM
transient abnormal myelopoiesis
transient leukemia
transient leukemia of Down syndrome
transient myeloproliferative disease
transient myeloproliferative syndrome
A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43.
Eagle-Barret syndrome
Obrisnksy syndrome
abdominal muscle deficiency syndrome
prune belly syndrome
A primary hyperaldosteronism that is characterized by a tumor outside the pituitary gland produces a hormone called adrenocorticotropic hormone.
Cushing syndrome due to ectopic ACTH secretion
ectopic ACTH secreting tumor
ectopic Cushing syndrome
An early-onset Parkinson's diseas that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31.
juvenile onset Parkinson disease 19A
juvenile onset Parkinson's disease 19A
A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age.
late onset Parkinson disease
An early-onset Parkinson's disease that is characterized by onset of motor symptoms prior to 21 years of age.
juvenile-onset Parkinson disease
A Parkinson's disease characterized by onset of motor symptoms early than typically seen, usually prior to 50 years of age.
early-onset Parkinson disease
A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene on chromosome 4q22.
autosomal dominant Lewy body Parkinson disease 4
autosomal dominant Parkinson disease 4
autosomal dominant Parkinson's disease 4
An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22.
autosomal recessive early-onset Parkinson disease 23
autosomal recessive early-onset Parkinson's disease 23
Parkinson's disease 23
A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13.
Parkinson disease 17
autosomal dominant Parkinson disease 17
Parkinson's disease 17
An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22.
early-onset Parkinson disease 20
early-onset Parkinson's disease 20
Parkinson's disease 20
A late-onset Parkinson disease that has_material_basis_in homozygous mutation in the PLA2G6 gene on chromosome 22q13.
Dystonia-Parkinsonism Adult-Onset
autosomal recessive Parkinson disease 14
autosomal recessive Parkinson's disease 14
Parkinson's disease 14
A B-cell lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.
lymphoplasmacytic lymphoma with IgM gammopathy
Lymphoplasmacytic lymphoma, also known as Waldenstrom macroglobulinemia.
lymphoplasmacytic lymphoma
A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22.
lissencephaly 2
lissencephaly syndrome, Norman-Roberts type
Norman-Roberts syndrome
A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system.
thrombosis
A fruit allergy triggered by Fabaceae (legume) plant fruit or seed food product.
Fabaceae allergy
An interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has_material_basis_in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3.
KIN
KMIN
karyomegalic interstitial nephritis
A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13.
3-methylglutaconic aciduria type VIII, MGCA8
3-methylglutaconic aciduria type 8
A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the TIMM50 gene on chromosome 19q13.
3-methylglutaconic acuduria type IX, MGCA9
3-methylglutaconic aciduria type 9
A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from precursor cells called blast cells.
A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages.
A Seckel syndrome that has_material_basis_in homozygous mutation in the TRAIP gene on chromosome 3p21.
SCKL9
A Seckel syndrome that has_material_basis_in homozygous mutation in the CEP63 gene on chromosome 3q22.
SCKL6
A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23.
SCKL1
microcephalic primordial dwarfism I
A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NSMCE2 gene on chromosome 8q24.
SCKL10
A Seckel syndrome that has_material_basis_in homozygous mutation in the DNA2 gene on chromosome 10q21.
SCKL8
A Seckel syndrome that has_material_basis_in homozygous mutation in the CENPJ gene on chromosome 13q12.
SCKL4
A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NIN gene on chromosome 14q22.
SCKL7
A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21.
SCKL5
A Seckel syndrome that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11.
SCKL2
Seckel-type dwarfism 2
microcephalic primordial dwarfism 2
A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of TERC on chromosome 3q26.2.
DKCA1
Dyskeratosis Congenita, Scoggins Type
autosomal dominant dyskeratosis congenita 1
A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of NOLA3 on chromosome 15q14.
DKCB1
autosomal recessive dyskeratosis congenita 1
A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of TERT on chromosome 5p15.33.
DKCA2
autosomal dominant dyskeratosis congenita 2
A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3.
DKCB2
autosomal recessive dyskeratosis congenita 2
A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of TINF2 on chromosome 14q12.
DKCA3
autosomal dominant dyskeratosis congenita 3
A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1.
DKCB3
autosomal recessive dyskeratosis congenita 3
A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33.
DKCA4
autosomal dominant dyskeratosis congenita 4
A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of TERT on chromosome 5p15.33.
DKCB4
autosomal recessive dyskeratosis congenita 4
A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of RTEL1 on chromosome 20q13.33.
DKCB5
autosomal recessive dyskeratosis congenita 5
A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of ACD on chromosome 16q22.1.
DKCA6
autosomal dominant dyskeratosis congenita 6
A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of PARN on chromosome 16p13.12.
DKCB6
autosomal recessive dyskeratosis congenita 6
A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of DKC1 on chromosome Xq28.
DKCX
Zinsser-Cole-Engman syndrome
A dyskeratosis congenita that has_material_basis_in a mutation of TINF2 on chromosome 14q12.
DKCA5
Dyskeratosis Congenita, Autosomal Dominant 5
exudative retinopathy with bone marrow failure
A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of CST3 on chromosome 20p11.21.
Amyloidosis VI
Amyloidosis, Cerebroarterial, Icelandic Type
Cerebral Hemorrhage, Hereditary, with Amyloidosis, Icelandic Variant
HCHWA
Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Variant
CST3-related cerebral amyloid angiopathy
A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3.
Amyloidosis, Cerebroarterial, App-Related
Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant
Cerebral Amyloid Angiopathy, App-Related, Arctic Variant
Cerebral Amyloid Angiopathy, App-Related, Dutch Variant
Cerebral Amyloid Angiopathy, App-Related, Flemish Variant
Cerebral Amyloid Angiopathy, App-Related, Iowa Variant
Cerebral Amyloid Angiopathy, App-Related, Italian Variant
HCHWAD
A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.
Cerebral Amyloid Angiopathy, British Type
FBD
Familial British Dementia
Presenile Dementia with Spastic Ataxia
ITM2B-related cerebral amyloid angiopathy 1
A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.
Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis
FDD
Familial Danish Dementia
HOOE
Heredopathia Ophthalmootoencephalica
ITM2B-related cerebral amyloid angiopathy 2
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of MBD5 on chromosome 2q23.1.
MRD1
autosomal dominant mental retardation 1
autosomal dominant non-syndromic intellectual disability 1
autosomal dominant intellectual developmental disorder 1
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of DOCK8 on chromosome 9p24.
MRD2
autosomal dominant mental retardation 2
autosomal dominant non-syndromic intellectual disability 2
autosomal dominant intellectual developmental disorder 2
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of CDH15 on chromosome 16q24.3.
MRD3
autosomal dominant mental retardation 3
autosomal dominant non-syndromic intellectual disability 3
autosomal dominant intellectual developmental disorder 3
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of KIRREL3 on chromosome 11q24.2.
MRD4
autosomal dominant mental retardation 4
autosomal dominant non-syndromic intellectual disability 4
autosomal dominant intellectual developmental disorder 4
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of SYNGAP1 on chromosome 6p21.32.
MRD5
autosomal dominant mental retardation 5
autosomal dominant non-syndromic intellectual disability 5
autosomal dominant intellectual developmental disorder 5
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of GRIN2B on chromosome 12p13.1.
MRD6
autosomal dominant mental retardation 6
autosomal dominant non-syndromic intellectual disability 6
autosomal dominant intellectual developmental disorder 6
An autosomal dominant intellectual developmental disorder that is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly and that has_material_basis_in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13.
MRD7
autosomal dominant mental retardation 7
autosomal dominant non-syndromic intellectual disability 7
autosomal dominant intellectual developmental disorder 7
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of GRIN1 on chromosome 9q34.3.
MRD8
autosomal dominant mental retardation 8
autosomal dominant non-syndromic intellectual disability 8
autosomal dominant intellectual developmental disorder 8
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of KIF1A on chromosome 2q37.3.
MRD9
autosomal dominant intellectual disability 9
autosomal dominant mental retardation 9
autosomal dominant non-syndromic intellectual disability 9
neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of CACNG2 on chromosome 22q12.3.
MRD10
autosomal dominant mental retardation 10
autosomal dominant non-syndromic intellectual disability 10
autosomal dominant intellectual developmental disorder 10
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of EPB41L1 on chromosome 20q11.23.
MRD11
autosomal dominant mental retardation 11
autosomal dominant non-syndromic intellectual disability 11
autosomal dominant intellectual developmental disorder 11
A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of ARID1B on chromosome 6q25.3.
CSS1
MRD12
autosomal dominant mental retardation 12
fifth digit syndrome
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of DYNC1H1 on chromosome 14q32.31.
MRD13
autosomal dominant mental retardation 13
autosomal dominant non-syndromic intellectual disability 13
mental retardation, autosomal dominant 13, with neuronal migration defects
autosomal dominant intellectual developmental disorder 13
A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of ARID1A on chromosome 1p36.11.
CSS2
MRD14
autosomal dominant mental retardation 14
A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of SMARCB1 on chromosome 22q11.23.
CSS3
MRD15
autosomal dominant mental retardation 15
A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of SMARCA4 on chromosome 19p13.2.
CSS4
MRD16
autosomal dominant mental retardation 16
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of PACS1 on chromosome 11q13.1-q13.2.
MRD17
SHMS
autosomal dominant mental retardation 17
An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development and that has_material_basis_in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3.
MRD18
autosomal dominant intellectual developmental disorder 18
autosomal dominant mental retardation 18
autosomal dominant non-syndromic intellectual disability 18
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of CTNNB1 on chromosome 3p22.1.
MRD19
autosomal dominant mental retardation 19
autosomal dominant non-syndromic intellectual disability 19
autosomal dominant intellectual developmental disorder 19
An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with hypotonia, poor motor development with limited walking, impaired intellectual development with poor or absent speech, and behavioral abnormalities and that has_material_basis_in an autosomal dominant mutation of MEF2C on chromosome 5q14.3.
MRD20
autosomal dominant mental retardation 20
mental retardation, autosomal dominant 20
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of CTCF on chromosome 16q22.1.
MRD21
autosomal dominant mental retardation 21
autosomal dominant non-syndromic intellectual disability 21
autosomal dominant intellectual developmental disorder 21
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of ZBTB18 on chromosome 1q44.
MRD22
autosomal dominant mental retardation 22
autosomal dominant non-syndromic intellectual disability 22
autosomal dominant intellectual developmental disorder 22
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of SETD5 on chromosome 3p25.3.
MRD23
autosomal dominant mental retardation 23
autosomal dominant non-syndromic intellectual disability 23
autosomal dominant intellectual developmental disorder 23
An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities that has_material_basis_in an autosomal dominant mutation of DEAF1 on chromosome 11p15.5.
MRD24
autosomal dominant mental retardation 24
autosomal dominant non-syndromic intellectual disability 24
intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of AHDC1 on chromosome 1p36.1-p35.3.
MRD25
autosomal dominant mental retardation 25
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of AUTS2 on chromosome 7q11.22.
MRD26
autosomal dominant mental retardation 26
autosomal dominant non-syndromic intellectual disability 26
autosomal dominant intellectual developmental disorder 26
An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of SOX11 on chromosome 2p25.2.
MRD27
autosomal dominant mental retardation 27
autosomal dominant non-syndromic intellectual disability 27
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of ADNP on chromosome 20q13.13.
HVDAS
MRD28
autosomal dominant mental retardation 28
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of SETBP1 on chromosome 18q12.3.
MRD29
autosomal dominant mental retardation 29
autosomal dominant non-syndromic intellectual disability 29
autosomal dominant intellectual developmental disorder 29
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of ZMYND11 on chromosome 10p15.3.
MRD30
autosomal dominant mental retardation 30
autosomal dominant non-syndromic intellectual disability 30
autosomal dominant intellectual developmental disorder 30
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of PURA on chromosome 5q31.3.
MRD31
autosomal dominant mental retardation 31
autosomal dominant non-syndromic intellectual disability 31
autosomal dominant intellectual developmental disorder 31
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of KAT6A on chromosome 8p11.21.
MRD32
autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
autosomal dominant mental retardation 32
autosomal dominant non-syndromic intellectual disability 32
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of DPP6 on chromosome 7q36.2.
MRD33
autosomal dominant mental retardation 33
autosomal dominant non-syndromic intellectual disability 33
autosomal dominant intellectual developmental disorder 33
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of COL4A3BP on chromosome 5q13.3.
MRD34
autosomal dominant mental retardation 34
autosomal dominant non-syndromic intellectual disability 34
autosomal dominant intellectual developmental disorder 34
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of PPP2R5D on chromosome 6p21.1.
MRD35
autosomal dominant mental retardation 35
autosomal dominant non-syndromic intellectual disability 35
autosomal dominant intellectual developmental disorder 35
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of PPP2R1A on chromosome 19q13.41.
MRD36
autosomal dominant mental retardation 36
autosomal dominant non-syndromic intellectual disability 36
autosomal dominant intellectual developmental disorder 36
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of POGZ on chromosome 1q21.3.
MRD37
WHSUS
autosomal dominant mental retardation 37
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of EEF1A2 on chromosome 20q13.33.
MRD38
PRELDS
autosomal dominant mental retardation 38
autosomal dominant non-syndromic intellectual disability 38
psychomotor retardation, epilepsy, and language disability syndrome
autosomal dominant intellectual developmental disorder 38
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant heterozygous mutation in the MYT1L gene on chromosome 2p25.3.
MRD39
autosomal dominant mental retardation 39
autosomal dominant non-syndromic intellectual disability 39
autosomal dominant intellectual developmental disorder 39
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene on chromosome 13q34.
MRD40
autosomal dominant mental retardation 40
autosomal dominant non-syndromic intellectual disability 40
autosomal dominant intellectual developmental disorder 40
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of TBL1XR1 on chromosome 3q26.32.
MRD41
autosomal dominant mental retardation 41
autosomal dominant non-syndromic intellectual disability 41
autosomal dominant intellectual developmental disorder 41
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of GNB1 on chromosome 1p36.33.
MRD42
autosomal dominant mental retardation 42
autosomal dominant non-syndromic intellectual disability 42
autosomal dominant intellectual developmental disorder 42
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of HIVEP2 on chromosome 6q24.2.
MRD43
autosomal dominant mental retardation 43
autosomal dominant non-syndromic intellectual disability 43
autosomal dominant intellectual developmental disorder 43
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of TRIO on chromosome 5p15.2.
MRD44
autosomal dominant intellectual developmental disorder 44 with microcephaly
autosomal dominant mental retardation 44
autosomal dominant non-syndromic intellectual disability 44
autosomal dominant intellectual developmental disorder 44
A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35.
SCZD1
A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD2 on chromosome 11q14-q21.
SCZD2
A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD3 on chromosome 6p23.
SCZD3
A schizophrenia that has_material_basis_in an autosomal dominant mutation of PRODH on chromosome 22q11.21.
SCZD4
A schizophrenia that has_material_basis_in a mutation on chromosome 6q13-q26.
SCZD5
A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD6 on chromosome 8p21.
SCZD6
A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD7 on chromosome 13q32.
SCZD7
A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD8 on chromosome 18p.
SCZD8
A schizophrenia that has_material_basis_in a mutation of DISC1 on chromosome 1q42.2.
SCZD9
A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD10 on chromosome 15q15.
SCZD10
A schizophrenia that has_material_basis_in a mutation on chromosome 10q22.3.
SCZD11
A schizophrenia that has_material_basis_in a mutation on chromosome 1p36.2.
SCZD12
A schizophrenia that has_material_basis_in a mutation on chromosome 15q13.
SCZD13
A schizophrenia that has_material_basis_in a mutation on chromosome 2q32.1.
SCZD14
A schizophrenia that has_material_basis_in a mutation of SHANK3 on chromosome 22q13.33.
SCZD15
A schizophrenia that has_material_basis_in a mutation on chromosome 7q36.3.
SCZD16
A schizophrenia that has_material_basis_in a mutation of SLC1A1 on chromosome 9p24.2.
Chromosome 7q36.3 Duplication Syndrome, 362-Kb
SCZD18
An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity.
OCA1A
Oculocutaneous Albinism, Tyrosinase-Negative
An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity.
Albinism, Yellow Mutant Type
OCA1B
An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of OCA2 on chromosome 15q12-q13.
OCA2
Oculocutaneous Albinism, Tyrosinase-Positive
An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of TYRP1 on chromosome 9p23.
OCA3
Rufous Oculocutaneous Albinism
An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of SLC45A2 on chromosome 5p13.2.
OCA4
An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of OCA5 on chromosome 4q24.
OCA5
An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of C10orf11 on chromosome 10q22.2-q22.3.
OCA7
A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of SMPD1 on chromosome 11p15.4.
A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of SMPD1 on chromosome 11p15.4.
A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of NPC1 on chromosome 18q11.2.
NPC1
A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of NPC2 on chromosome 14q24.3.
NPC2
A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of MKS1 on chromosome 17q22.
MKS1
Meckel-Gruber syndrome, type 1
A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of TMEM216 on chromosome 11q12.2.
MKS2
Meckel-Gruber syndrome, type 2
A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of TMEM67 on chromosome 8q22.1.
MKS3
Meckel-Gruber syndrome, type 3
A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of CEP290 on chromosome 12q21.32.
MKS4
Meckel-Gruber syndrome, type 4
A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of RPGRIP1L on chromosome 16q12.2.
MKS5
Meckel-Gruber syndrome, type 5
A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of CC2D2A on chromosome 4p15.32.
MKS6
Meckel-Gruber syndrome, type 6
A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of NPHP3 on chromosome 3q22.1.
MKS7
Meckel-Gruber syndrome, type 7
A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of TCTN2 on chromosome 12q24.31.
MKS8
Meckel-Gruber syndrome, type 8
A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13.
CHNG4
isolated thyrotropin deficiency
A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13.
CHNG2
congenital hypothyroidism due to thyroid dysgenesis or hypoplasia
A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35.
CHNG5
A congenital hypothyroidism that has_material_basis_in mutation in the TSHR gene on chromosome 14q31.
CHNG1
TSH resistance
A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has_material_basis_in variation in the chromosome region 15q25.3-q26.1.
CHNG3
A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the THRA gene on chromosome 17q21.1.
CHNG6
An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13.
ARCL2D
An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutations in the ELN gene on chromosome 7q11.
ADCL1
An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.
ADCL3
A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24.
ARCL3A
De Barsy syndrome A
autosomal recessive cutis laxa type IIIA
An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13.
ARCL1B
An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.
ARCL2A
An autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.
ARCL1A
An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutation in the FBLN5 gene on chromosome 14q32.
ADCL2
A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3.
ARCL2, progeroid type
ARCL2B
An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.
ARCL3B
De Barsy syndrome B
autosomal recessive cutis laxa type IIIB
A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13.
ARCL1C
autosomal recessive cutis laxa type 1C
An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.
A cutis laxa characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features and severe hypotonia.
ARCL2, Debre type
ARCL2, classic type
autosomal recessive cutis laxa type II classic type
A cutis laxa characterized by autosomal dominant inheritance of skin that is loose, hanging, wrinkled and lacking in elasticity.
ADCL
A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract.
De Barsy syndrome
cutis laxa-corneal clouding-intellectual disability syndrome
A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particulary in the lungs, vasculature, and gastrointestinal and genitourinary systems.
autosomal recessive cutis laxa type 1
A hereditary sensory neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13.
HSAN5
hereditary sensory and autonomic neuropathy type V
hereditary sensory and autonomic neuropathy type 5
A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23.
hereditary sensory neuropathy type IV
insensitivity to pain, congenital, with anhidrosis
A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has_material_basis_in homozygous or compound heterozygous mutation in the KIF1A gene on chromosome 2q37.
HSN2C
hereditary sensory neuropathy type IIC
A hereditary sensory neuropathy characterized by axonal neuropathy with distal sensory impairment, cough, and gastroesophageal reflux that has_material_basis_in variation in the chromosome region 3p24-p22.
HSAN with cough and gastroesophageal reflux
hereditary sensory neuropathy type IB
A hereditary sensory neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22.
HSAN7
hereditary sensory and autonomic neuropathy type VII
hereditary sensory and autonomic neuropathy type 7
A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has_material_basis_in homozygous mutation in the FAM134B gene on chromosome 5p15.
HSAN2B
hereditary sensory and autonomic neuropathy type IIB
hereditary sensory and autonomic neuropathy type 2B
A hereditary sensory neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous mutation in the DST gene on chromosome 6p12.
HSAN6
hereditary sensory and autonomic neuropathy type VI
hereditary sensory and autonomic neuropathy type 6
A hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22.
HSAN1A
hereditary sensory and autonomic neuropathy type IA
hereditary sensory and autonomic neuropathy type 1A
A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has_material_basis_in homozygous mutation in the PRDM12 gene on chromosome 9q34.
HSAN8
hereditary sensory and autonomic neuropathy type VIII
hereditary sensory and autonomic neuropathy type 8
A hereditary sensory and autonomic neuropathy type 1 characterized by distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation that has_material_basis_in heterozygous mutation in the ATL3 gene on chromosome 11q13.
HSN1F
hereditary sensory neuropathy type IF
A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13.
HSAN2A
hereditary sensory and autonomic neuropathy type IIA
hereditary sensory and autonomic neuropathy type 2A
A hereditary sensory and autonomic neuropathy type 1 characterized dult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement that has_material_basis_in heterozygous mutation in the ATL1 gene on chromosome 14q.
HSN1D
A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24.
HSAN1C
hereditary sensory and autonomic neuropathy type IC
hereditary sensory and autonomic neuropathy type 1C
A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has_material_basis_in heterozygous mutation in the DNMT1 gene on chromosome 19p13.
HSN1E
hereditary sensory neuropathy type IE
A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life.
A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities.
A hereditary sensory neuropathy characterized by progressively reduced sensation to pain, temperature, and touch, loss of myelinated and unmyelinated fibers, and hypotonia with onset at birth or in early childhood.
HSAN2
hereditary sensory and autonomic neuropathy type II
hereditary sensory and autonomic neuropathy type 2
A hereditary sensory neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance.
HSAN1
hereditary sensory and autonomic neuropathy type I
hereditary sensory and autonomic neuropathy type 1
A male infertility due to acephalic spermatozoa that is characterized by acephalic spermatozoa, reduced sperm number and impaired sperm motility that has_material_basis_in homozygous mutation in the BRDT gene on chromosome 1p22.
A spermatogenic failure that is characterized by azoospermia or severe oligozoospermia that has_material_basis_in inversions on chromosome 1.
SPGF2
A spermatogenic failure that is characterized by sperm flagellar morphological abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH1 gene on chromosome 3p21.
SPGF18
A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP44 gene on chromosome 3q13.
SPGF20
A male infertility characterized by autosomal recessive inheritance of globozoospermia that has_material_basis_in mutation in the SPATA16 gene on chromosome 3q26.
SPGF6
A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive asthenozoospermia that has_material_basis_in heterozygous mutation in the SLC26A8 gene on chromosome 6p21.
SPGF3
A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or moderate to severe oligozoospermia that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.
SPGF8
A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP43 gene on chromosome 10q25.
SPGF19
A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or severe oligoasthenoteratozoospermia and in some cases a Sertolic cell-only phenotype that has_material_basis_in heterozygous mutation in the NANOS1 gene on chromosome 10q26.
SPGF12
A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia that has_material_basis_in mutation in the SYCE1 gene on chromosome 10q26.
SPGF15
A spermatogenic failure that is characterized by autosomal recessive inheritance of impaired or absent sperm motility and increased incidence of morphologically abnormal sperm that has_material_basis_in mutation in the CATSPER1 gene on chromosome 11q13.
SPGF7
A spermatogenic failure that is characterized by autosomal recessive inheritance of oocyte activation failure following intracytoplasmic sperm injection that has_material_basis_in mutation in the PLCZ1 gene on chromosome 12p12.
Male infertility due to oocyte activation failure
SPGF17
A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive azoospermia caused by meiotic abnormalities that has_material_basis_in mutation in the SYCP3 gene on chromosome 12q23.
SPGF4
A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatocyte maturation arrest resulting in azoospermia that has_material_basis_in mutation in the MEIOB gene on chromosome 16p13.
SPGF22
A spermatogenic failure that is characterized by defects in the annulus or the ring-like structure located at the distal end of the flagellar midpiece the autosomal dominant inheritance of that has_material_basis_in mutation in the SEPT12 gene on chromosome 16p13.
SPGF10
Spermatogenic failure with defective sperm annulus
A spermatogenic failure that is characterized by autosomal recessive inheritance of a maturation arrest in the spermatid stage of development that has_material_basis_in mutation in the ZMYND15 gene on chromosome 17p13.
SPGF14
A spermatogenic failure that is characterized by autosomal dominant inheritance of oligozoospermia and in some cases teratozoospermia and/or moderate asthenozoospermia that has_material_basis_in mutation in the KLHL10 gene on chromosome 17q21.
SPGF11
A spermatogenic failure that is characterized by autosomal recessive inhertitance of nonobstructive azoospermia that has_material_basis_in mutation in the TEX14 gene on chromosome 17q23.
SPGF23
A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia or oligozoospermia that has_material_basis_in mutation in the TAF4B gene on chromosome 18q11.
SPGF13
A spermatogenic failure that is characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the AURKC gene on chromosome 19q13.
Infertility associated with multi-tailed spermatozoa and excessive deoxyribonucleic acid
SPGF5
infertility associated with multitailed spermatozoa and excessive DNA
macrocephalic sperm head syndrome
male infertility due to macrozoospermia
male infertility with large-headed, multiflagellar, polyploid spermatozoa
A male infertility due to acephalic spermatozoa that is characterized by autosomal recessive inheritance of acephalic spermatozoa that has_material_basis_in mutation in the SUN5 gene on chromosome 20q11.
SPGF16
acephalic spermatozoa syndrome
A spermatogenic failure that is characterized by meiotic arrest of spermatocytes and mixed testicular atrophy that has_material_basis_in X-linked inheritance of mutation in the TEX11 gene on chromosome Xq13.
SPGFX2
A Sertoli cell-only syndrome that has_material_basis_in deletions in the Yq11 chromosomal region.
SPGFY1
Y-linked Sertoli cell-only syndrome
type I Sertoli cell-only syndrome
A spermatogenic failure that is characterized by nonobstroctive azoospermia or oligozoospermia that has_material_basis_in interstitial deletions on the Yq11.221 chromosomal region.
SPGFY2
nonobstructive Y-linked spermatogenic failure
A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatogenic failure resulting from meiotic defects.
SPGF1
oligochiasmatic infertility
oligosynaptic infertility
A Sertoli cell-only syndrome characterized by X-linked inheritance.
SPGFX1
A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25.
CDG2
autosomal recessive chronic granulomatous disease cytochrome b-positive type II
chronic granulomatous disease due to deficiency of NCF-2
deficiency of NCF2
deficiency of p67-PHOX
autosomal recessive chronic granulomatous disease 2
A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23.
CDG1
autosomal recessive chronic granulomatous disease cytochrome b-positive type I
chronic granulomatous disease due to deficiency of NCF-1
deficiency of NCF1
deficiency of SOC2
deficiency of neutrophil cytosol factor 1
deficiency of p47-PHOX
deficiency of soluble oxidase component II
autosomal recessive chronic granulomatous disease 1
A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBA gene on chromosome 16q24.2.
CGD due to deficiency of the alpha subunit of cytochrome b
CYBA deficiency
autosomal recessive chronic granulomatous disease cytochrome b-negative
autosomal recessive cytochrome b-negative CGD
chronic granulomatous disease due to deficiency of CYBA
autosomal recessive chronic granulomatous disease 4
A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12.
CDG3
autosomal recessive chronic granulomatous disease cytochrome b-positive type III
autosomal recessive cytochrome b-positive CGD type III
chronic granulomatous disease due to NCF4 deficiency
autosomal recessive chronic granulomatous disease 3
A chronic granulomatous disease characterized by X-linked inheritance that has_material_basis_in mutation in the CYBB gene on chromosome Xp21.1-p11.4.
CDGX
X-linked chronic cytochrome b-negative granulomatous disease
A distal muscular dystrophy characterized by autosomal dominant inheritance, infantile onset and progressive disease development.
A distal muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11.
Distal myopathy type 1
Gowers disease
Laing distal myopathy
Laing early-onset distal myopathy
MPD1
A distal muscular dystrophy characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood.
Miyoshi myopathy
A Miyoshi muscular dystrophy that has_material_basis_in mutation in the DYSF gene on chromosome 2p13.
MMD1
Miyoshi myopathy 1
A Miyoshi muscular dystrophy characterized by asymmetric presentation of muscle weakness and atrophy that has_material_basis_in a locus on chromosome 10.
MMD2
Miyoshi myopathy 2
A Miyoshi muscular dystrophy that has_material_basis_in mutation in the ANO5 gene on chromosome 11p14.
MMD3
Miyoshi myopathy 3
A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21.
FPLD2
familial lipodystrophy of limbs and lower trunk
familial partial lipodystrophy Dunnigan type
reverse partial lipodystrophy
A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CIDEC gene on chromosome 3p25.
CIDEC-related FPLD
FPLD5
familial partial lipodystrophy associated with CIDEC mutations
A familial partial lipodystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the PPARG gene on chromosome 3p25.
FPLD3
PPARG-related FPLD
PPARG-related familial partial lipodystrophy
familial partial lipodystrophy associated with PPARG mutations
A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutation in the PLIN1 gene on chromosome 15q26.
FPLD4
PLIN1-related FPLD
PLIN1-related familial partial lipodystrophy
familial partial lipodystrophy associated with PLIN1 mutations
A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the LIPE gene on chromosome 19q13.
FPLD6
LIPE-related FPLD
LIPE-related familial partial lipodystrophy
familial partial lipodystrophy associated with LIPE mutations
A familial partial lipodystrophy characterized by loss of adipose tissue that is confined to the extremities with normal or increased fat in other areas of the body.
FPLD1
familial partial lipodystrophy Kobberling type
A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42.
LMPH1C
A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the VEGFC gene on chromosome 4q34.
LMPH1D
A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the FLT4 gene on chromosome 5q35.
LMPH1A
A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in the chromosomal region 6q16.2-q22.1.
LMPH1B
A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood.
LMPH1
Milroy disease
Nonne-Milroy lymphedema
PCL
congenital primary lymphedema
hereditary lymphedema type I
A hereditary lymphedema characterized by onset around puberty of chronic lymphedema particularly in the lower limbs with an apparent autosomal dominant pattern of inheritance.
LMPH2
Meige disease
Meige lymphedema
late-onset lymphedema
lymphedema preacox
A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2.
EIHI
HHF7
exercise-induced hyperinsulinemic hypoglycemia
exercise-induced hyperinsulinism
hyperinsulinism due to SLC16A1 deficiency
hyperinsulinism due to monocarboxylate transporter 1 deficiency
familial hyperinsulinemic hypoglycemia 7
A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has_material_basis_in mutation in the HADH gene on chromosome 4q25.
HHF4
hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
hyperinsulinism due to SCHAD deficiency
hyperinsulinism due to glutamodehydrogenase deficiency
hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
familial hyperinsulinemic hypoglycemia 4
A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13.
HHF3
hyperinsulinemic hypoglycemia due to glucokinase deficiency
hyperinsulinism due to glucokinase deficiency
familial hyperinsulinemic hypoglycemia 3
A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 gene on chromosome 10q23.3.
HHF6
HI/HA syndrome
hyperinsulinism-hyperammonemia syndrome
familial hyperinsulinemic hypoglycemia 6
A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1.
Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
HHF2
hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia
familial hyperinsulinemic hypoglycemia 2
A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the ABCC8 gene on chromosome 11p15.
HHF1
familial hyperinsulinemic hypoglycemia 1
A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13.
HHF5
hyperinsulinemic hypoglycemia due to INSR deficiency
hyperinsulinemic hypoglycemia due to insulin receptor deficiency
hyperinsulinism due to INSR deficiency
familial hyperinsulinemic hypoglycemia 5
An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.
PFIC; Byler disease
progressive familial intrahepatic cholestasis
A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31.
BSEP deficiency
PFIC2
progressive familial intrahepatic cholestasis 2
A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12.
MDR3 deficiency
PFIC3
progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase
progressive familial intrahepatic cholestasis 3
A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21.
PFIC4
TJP2 deficit
progressive familial intrahepatic cholestasis 4
A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the NR1H4 gene on chromosome 12q.
NR1H4 deficiency
PFIC5
progressive familial intrahepatic cholestasis 5
A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21.
FIC1 deficiency
PFIC1
progressive familial intrahepatic cholestasis 1
An intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery.
ICP
gravidic intrahepatic cholestasis
pregnancy related cholestasis
recurrent intrahepatic cholestasis of pregnancy
An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21.
ICP1
pregnancy related cholestasis 1
An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.
ICP3
pregnancy related cholestasis 3
An intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction.
BRIC
Summerskill-Walshe-Tygstrup syndrome
benign recurrent intrahepatic cholestasis
A benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q.
BRIC type 1
BRIC1
Summerskill syndrome
benign recurrent intrahepatic cholestasis 1
A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31.
BRIC type 2
BRIC2
benign recurrent intrahepatic cholestasis 2
A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41.
Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations
LDS4
A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24.
AAT3
LDS2
Marfan syndrome type II
familial throacic aortic aneurysm 3
A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22.
AAT5
Furlong syndrome
LDS1
familial throacic aortic aneurysm 5
A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24.
LDS5
RNHF
Reinhoff syndrome
A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q.
LDS1C
LDS3
Loeys-Dietz syndrome type 1C
Loeys-Dietz syndrome with osteoarthritis
aneurysms-osteoarthritis syndrome
A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ2 on chromosome 4q21.22-q21.23.
COQ10D1
CoQ deficiency 1
CoQ10 deficiency, primary, 1
coenzyme Q deficiency 1
ubiquinone deficiency 1
A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of PDSS1 on chromosome 10p12.1.
COQ10D2
coenzyme Q10 deficiency, primary, 2
deafness-encephaloneuropathy-obesity-valvulopathy syndrome
hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome
A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of PDSS2 on chromosome 6q21.
COQ10D3
coenzyme Q10 deficiency, primary, 3
A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of ADCK3 on chromosome 1q42.13.
COQ10D4
SCAR9
coenzyme Q10 deficiency, primary, 4
spinocerebellar ataxia, autosomal recessive 9
A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ9 on chromosome 16q21.
COQ10D5
coenzyme Q10 deficiency, primary, 5
encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ6 on chromosome 14q24.3.
COQ10D6
coenzyme Q10 deficiency, primary, 6
familial steroid-resistant nephrotic syndrome with sensorineural deafness
A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ4 on chromosome 9q34.11.
COQ10D7
COQ4-related neonatal encephalomyopathy
coenzyme Q10 deficiency, primary, 7
neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ7 on chromosome 16p12.3.
COQ10D8
coenzyme Q10 deficiency, primary, 8
An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28.
EDMD1
EMD1
Emery-Dreifuss muscular dystrophy 1, X-linked
humeroperoneal neuromuscular disease
muscular dystrophy, tardive, Dreifuss-Emery type, with contractures
scapuloperoneal syndrome, X-linked
X-linked Emery-Dreifuss muscular dystrophy 1
An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of LMNA on chromosome 1q22.
EDMD2
EMD2
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Emery-Dreifuss muscular dystrophy, autosomal dominant
Hauptmann-Thannhauser muscular dystrophy
autosomal dominant limb-girdle muscular dystrophy type 1B
muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant
scapuloilioperoneal atrophy with cardiopathy
autosomal dominant Emery-Dreifuss muscular dystrophy 2
An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of LMNA on chromosome 1q22.
EDMD3
Emery-Dreifuss muscular dystrophy 3, autosomal recessive
autosomal recessive Emery-Dreifuss muscular dystrophy 3
An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of SYNE1 on chromosome 6q25.2.
EDMD4
Emery-Dreifuss muscular dystrophy 4 with variable features
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
autosomal dominant Emery-Dreifuss muscular dystrophy 4
An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of SYNE2 on chromosome 14q23.2.
EDMD5
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
autosomal dominant Emery-Dreifuss muscular dystrophy 5
An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of FHL1 on chromosome Xq26.3.
EDMD6
Emery-Dreifuss muscular dystrophy 6, X-linked
XMPMA
myopathy, X-linked, with postural muscle atrophy
X-linked Emery-Dreifuss muscular dystrophy 6
An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of TMEM43 on chromosome 3p25.1.
EDMD7
Emery-Dreifuss muscular dystrophy 7, autosomal dominant
autosomal dominant Emery-Dreifuss muscular dystrophy 7
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of MGAT2 on chromosome 14q21.3.
Alkuraya syndrome
CDG IIa
CDG2A
CDGIIa
CDGS2
carbohydrate-deficient glycoprotein syndrome, type II
congenital disorder of glycosylation, type IIa
mental retardation, growth retardation, prominent columella, and open mouth
congenital disorder of glycosylation type IIa
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of MOGS on chromosome 2p13.1.
CDG IIb
CDG2B
CDGIIb
glucosidase I deficiency
congenital disorder of glycosylation type IIb
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of SLC35C1 on chromosome 11p11.2.
CDG IIc
CDG2C
CDGIIc
Rambam-Hasharon syndrome
congenital disorder of glycosylation type IIc
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of B4GALT1 on chromosome 9p21.1.
CDG IId
CDG2D
CDGIId
congenital disorder of glycosylation type IId
A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG7 on chromosome 16p12.2.
CDG IIe
CDG syndrome type IIe
CDG2E
CDGIIde
COG7-CDG
Carbohydrate deficient glycoprotein syndrome type IIe
congenital disorder of glycosylation type IIe
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of SLC35A1 on chromosome 6q15.
CDG IIf
CDG2F
CDGIIdf
CMP-sialic acid transporter deficiency
Carbohydrate deficient glycoprotein syndrome type IIf
SLC35A1-CDG
congenital disorder of glycosylation type IIf
A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG1 on chromosome 17q25.1.
CDG IIg
CDG2G
CDGII/COG1 cerebrocostomandibular-like syndrome
CDGIIg
Carbohydrate deficient glycoprotein syndrome type IIg
congenital disorder of glycosylation type IIg
A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG8 on chromosome 16q22.1.
CDG IIh
CDG2H
CDGIIdh
COG8-CDG
Carbohydrate deficient glycoprotein syndrome type IIh
Congenital disorder of glycosylation type 2h
congenital disorder of glycosylation type IIh
A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG5 on chromosome 7q22.3.
CDG IIi
CDG syndrome type IIi
CDG2I
CDGIIdi
COG5-CDG
Carbohydrate deficient glycoprotein syndrome type IIi
Congenital disorder of glycosylation type 2i
congenital disorder of glycosylation type IIi
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of COG4 on chromosome 16q22.1.
CDG IIj
CDG syndrome type IIj
CDG2J
CDGIIdj
COG4-CDG
Carbohydrate deficient glycoprotein syndrome type IIj
Congenital disorder of glycosylation type 2j
congenital disorder of glycosylation type IIj
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of TMEM165 on chromosome 4q12.
CDG IIk
CDG syndrome type IIk
CDG2K
CDGIIdk
Carbohydrate deficient glycoprotein syndrome type IIk
Congenital disorder of glycosylation type 2k
TMEM165-CDG
congenital disorder of glycosylation type IIk
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of COG6 on chromosome 13q14.11.
CDG IIl
CDG syndrome type IIL
CDG2L
CDGIIdl
COG6-CGD
Congenital disorder of glycosylation type 2l
congenital disorder of glycosylation type IIl
A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23.
SLC35A2-CDG
congenital disorder of glycosylation type 2m
developmental and epileptic encephalopathy 22
epileptic encephalopathy, early infantile, 22
congenital disorder of glycosylation type IIm
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of SLC39A8 on chromosome 4q24.
CDG IIn
CDG syndrome type IIn
CDG2N
CDGIIdn
Carbohydrate deficient glycoprotein syndrome type IIn
Congenital disorder of glycosylation type 2n
SLC39A8-CDG
congenital disorder of glycosylation type IIn
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of CCDC115 on chromosome 2q21.1.
CCDC115-CDG
CDG IIo
CDG syndrome type IIo
CDG2O
CDGIIdo
Carbohydrate deficient glycoprotein syndrome type IIo
Congenital disorder of glycosylation type 2o
congenital disorder of glycosylation type IIo
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of TMEM199 on chromosome 17q11.2.
CDG IIp
CDG syndrome type IIp
CDG2P
CDGIIdp
Carbohydrate deficient glycoprotein syndrome type IIp
Congenital disorder of glycosylation type 2p
TMEM199-CDG
congenital disorder of glycosylation type IIp
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of COG2 on chromosome 1q42.2.
CDG IIq
CDG2Q
CDGIIdq
COG2-CDG
COG2-related congenital disorder of glycosylation
congenital disorder of glycosylation type IIq
A Lynch syndrome that has_material_basis_in heterozygous deletion of the 3' part of the EPCAM gene and intergenic regions adjacent to the MSH2 gene on chromosome 2p21. This results in transcriptional read-through and silencing of MSH2 in tissues expressing EPCAM.
HNPCC8
hereditary nonpolyposis colorectal cancer type 8
A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16.
FCC1
HNPCC1
familial nonpolyposis colon cancer type 1
hereditary nonpolyposis colorectal cancer type 1
A Lynch syndrome that has_material_basis_in heterozygous mutation in the MSH6 gene on chromosome 2p16.
HNPCC5
hereditary nonpolyposis colorectal cancer type 5
A Lynch syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p22.
HNPCC6
hereditary nonpolyposis colorectal cancer type 6
A Lynch syndrome that has_material_basis_in mutations in the MLH1 gene on chromosome 3p22.2.
COCA2
FCC2
HNPCC2
familial nonpolyposis colon cancer type 2
hereditary nonpolyposis colorectal cancer type 2
A Lynch syndrome that has_material_basis_in heterozygous mutation in the PMS2 gene on chromosome 7p22.
HNPCC4
hereditary nonpolyposis colorectal cancer type 4
A Lynch syndrome that has_material_basis_in mutation in the MLH3 gene on chromosome 14q24.3.
HNPCC7
hereditary nonpolyposis colorectal cancer type 7
A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34.
MCPH15
neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities
primary autosomal recessive microcephaly 15
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the STIL gene on chromosome 1p33.
MCPH7
primary autosomal recessive microcephaly 7
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21.
MCPH14
primary autosomal recessive microcephaly 14
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31.
MCPH5
primary autosomal recessive microcephaly 5
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23.
MCPH19
primary autosomal recessive microcephaly 19
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP135 gene on chromosome 4q.
MCPH8
primary autosomal recessive microcephaly 8
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPE gene on chromosome 4q24.
MCPH13
primary autosomal recessive microcephaly 13
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK6 gene on chromosome 7q21.
MCPH12
primary autosomal recessive microcephaly 12
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23.
MCPH1
primary autosomal recessive microcephaly 1
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5RAP2 gene on chromosome 9q33.
MCPH3
primary autosomal recessive microcephaly 3
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13.
MCPH11
primary autosomal recessive microcephaly 11
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CIT gene on chromosome 12q24.
MCPH17
primary autosomal recessive microcephaly 17
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ANKLE2 gene on chromosome 12q24.
MCPH16
primary autosomal recessive microcephaly 16
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPJ gene on chromosome 13q12.
MCPH6
primary autosomal recessive microcephaly 6
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KNL1 gene on chromosome 15q15.
MCPH4
primary autosomal recessive microcephaly 4
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21.
MCPH9
primary autosomal recessive microcephaly 9
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the WDR62 gene on chromosome 19q13.
MCPH2
primary autosomal recessive microcephaly 2 with or without cortical malformations
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ZNF335 gene on chromosome 20q13.
MCPH10
primary autosomal recessive microcephaly 10
A primary microcephaly that has_material_basis_in heterozygous mutation in the WDFY3 gene on chromosome 4q21.
MCPH18
primary autosomal dominant microcephaly 18
A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation.
MCPH
primary autosomal recessive microcephaly
A microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation.
true microcephaly
A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34.
EDM2
A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24.
BHMED
EDM5
bilateral hereditary microepiphyseal dysplasia
multiple epiphyseal dysplasia MATN3-related
A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32.
EDM4
MED4
Polyepiphyseal dysplasia type 4
multiple epiphyseal dysplasia with bilateral patellae
multiple epiphyseal dysplasia with clubfoot
rMED
A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A1 gene on chromosome 6p13.
EDM6
A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the CANT1 gene on chromosome 17q25.
EDM7
A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13.
EDM1
MED1
multiple epiphyseal dysplasia COMP-related
polyepiphyseal dysplasia type 1
A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13.
EDM3
multiple epiphyseal dysplasia 3 with or without myopathy
A multiple epiphyseal dysplasia that has_material_basis_in mutation in any of the members of the COL9A gene family (COL9A1, COL9A2, COL9A3).
multiple epiphyseal dysplasia due to collagen 9 anomaly
A syndrome that is characterized by four main components: post-cardiac arrest brain injury, post-cardiac arrest myocardial dysfunction, systemic ischemia reperfusion response, and persistent precipitating pathologies.
post cardiac syndrome
A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has_material_basis_in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects.
Boyadjiev-Jabs Syndrome
cranio-lenticulo-sutural dysplasia, CLSD
A muscle tissue disease characterized by electrically silent contractions of the skeletal muscles in response to mechanical stimuli. It has_material_basis_in mutation in the gene localized to 1q41 at the distal end of the long arm of chromosome 1, has_symptom characteristic lateral rolling movement of muscle, has_symptom muscle cramps, has_symptom muscle pain, has_symptom muscle stiffness during or following exercise.
An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram.
A nonsyndromic deafness that is characterized by cochlear or vestibular dysfunction resulting in loss of hearing caused by drug ototoxicity.
drug induced hearing loss
A form of male infertility that is characterized by a combination of low number or oligozoospermia, poor motility or asthenozoospermia, and abnormal shape or teratozoospermia of sperms. OAT is the most common cause of male subfertility.
OAT
oligoasthenoteratospermia
A nutritional deficiency disease that is characterized by low levels of thiamine.
thiamine deficiency disease
A kidney disease characterized by kidney damage and dysfunction resulting from urinary tract obstruction.
CON
congenital obstructive nephropathy
A congenital heart disease characterized by underdevelopment of the structures on the right side of the heart commonly associated with atrial septal defect.
A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13.
ECDM
tall stature-scoliosis-macrodactyly of the great toes syndrome
tall stature-scoliosis-macrodactyly of the halluces syndrome
A beriberi that is located_in the cardiovascular system and has_symptom increased heart rate, swelling of lower legs, and shortness of breath.
wet beriberi
A beriberi that is located_in the nervous system and has_symptom difficulty walking, numbness in extremities, tingling in extremities, paralysis of lower legs, difficulty speaking, confusion, and vomiting.
dry beriberi
A miliaria that is characterized by pustules resulting from inflammation and bacterial infection.
miliaria pustulosa
A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash.
miliaria profunda
A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located_in the stratum corneum.
miliaria crystallina
A hepatocellular carcinoma that occurs in children and is characterized by a distinct etiological predisposition, biological behavior, and lower frequency of cirrhosis as compared to adult hepatocellular carcinoma.
childhood hepatocellular carcinoma
A childhood leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.
childhood acute myeloid leukaemia
paediatric acute myeloid leukaemia
pediatric acute myeloid leukemia
childhood acute myeloid leukemia
A childhood lymphoma that is characterized by monoclonal expansion of Epstein-Barr virus-positive T cells with an activated cytotoxic phenotype in tissues or peripheral blood.
EBV-positive T-cell lymphoproliferative disorder of childhood
systemic EBV-positive T-cell lymphoma of childhood
systemic Epstein-Barr virus positive T-cell lymphoma of childhood
An adrenal gland pheochromocytoma that is characterized by rare chromaffin cell tumors which secrete catecholamines, and has a higher prevalence of hereditary factors and metastatis in children than adults.
malignant pediatric adrenal gland pheochromocytoma
malignant childhood adrenal gland pheochromocytoma
A skin melanoma that is characterized by asymmetric shape, diameter greater than 1 cm, a lesion with a deep invasive component, and a high degree of cytologic atypia.
atypical spitz nevus
spitzoid melanoma
A skin melanoma that arises from a congenital melanocytic nevus.
Malignant melanoma in congenital melanocytic nevus
melanocytic nevi
melanoma in congenital melanocytic nevus
A hepatocellular carcinoma that is characterized by hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure and often develops in the setting of chronic necro-inflammation.
adult hepatoma
adult primary hepatocellular carcinoma
adult hepatocellular carcinoma
A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs.
mtDNA depletion syndrome
mitochondrial DNA depletion syndrome
A mitochondrial metabolism disease that is characterized by reduced function of more than one stage of of energy production resulting from mitochondria impairment.
fatal multiple mitochondrial dysfunction syndrome
multiple mitochondrial dysfunctions syndrome
A mitochondrial DNA depletion syndrome that is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype, and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ribonucleotide reductase M2 B gene on chromosome 8q22.
mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related
mitochondrial DNA depletion syndrome 8b
A multiple mitochondrial dysfunctions syndrome that is characterized by hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity with onset in early childhood and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the PMPCB on chromosome 7q22.
multiple mitochondrial dysfunctions syndrome 6
A periperal T-cell lymphoma characterized by development around textured-surface breast implants confined to the capsule.
breast implant-associated anaplastic large cell lymphoma
A food allergy triggered by a vegetable food product.
vegetable allergy
A vegetable allergy triggered by celery (Apium graveolens).
celery allergy
An arthrogryposis multiplex congenita characterized by congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and edema with fetal hydrops and that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23.
arthrogryposis multiplex congenita-6
An epithelial and subepithelial dystrophy that is characterized by frequent painful recurrent corneal erosions, small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity.
epithelial recurrent erosion dystrophy
A cerebellar disease that is characterized by a cerebellum that is smaller than usual or not completely developed.
cerebellar hypoplasia
A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus.
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay
A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ASS1 gene, which encodes argininosuccinate synthetase, on chromosome 9q34.
classic citrullinemia
A citrullinemia that is characterized by confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures and coma, caused by citrin deficiency (NICCD), and has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene.
neonatal-onset type II citrullinemia
A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21.
adult-onset type II citrullinemia
A neuroaxonal dystrophy that has_material_basis_in heterozygous mutations in CSF1R and causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, characterized by progressive cognitive and motor impairment and seizures in the fourth to fifth decade of life.
osteoporosis and infantile neuroaxonal dystrophy
CSF1R-related brain malformation and osteopetrosis
A tuberculosis that is located_in some eye, has_material_basis_in Mycobacterium tuberculosis, and has_sypmtom inflamed eyes.
ocular tuberculosis
A syndrome that has_material_basis_in heterozygous mutation in the TBX2 gene on chromosome 17q23 and is characterized by craniofacial dysmorphisms, cardiac anomalies, skeletal malformations, immune deficiency, endocrine abnormalities and developmental impairments.
vertebral anomalies and variable endocrine and T-cell dysfunction
A syndrome that is characterized by impaired intellectual development with absent language and short stature and that has_material_basis_in homozygous mutation in the INTS1 gene on chromosome 7p22.
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
A syndrome that has_material_basis_in heterozygous mutation in the DNM1L gene, and is characterized by delayed psychomotor development and has_symptom hypotonia that may lead to death in childhood.
encephalopathy due to defective mitochondrial and peroxisomal fission 1
A spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance and is characterized by muscle weakness and wasting in the lower limbs, most affecting the thigh muscles.
spinal muscular atrophy with lower extremity predominance
spinal muscular atrophy with lower extremity predominant
A spinal muscular atrophy with lower extremity predominance that is characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22.
spinal muscular atrophy with lower extremity predominance 2A
spinal muscular atrophy with lower extremity predominant 2A
A spinal muscular atrophy with lower extremity predominance that is characterized by decreased fetal movements and are congenital contractures consistent with arthrogryposis multiplex congenita and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22.
spinal muscular atrophy with lower extremity predominance 2B
spinal muscular atrophy with lower extremity predominant 2B
A spinal muscular atrophy with lower extremity predominance that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.
spinal muscular atrophy with lower extremity predominance 1
spinal muscular atrophy with lower extremity predominant 1
A neurodegenerative disease characterized by variable ataxia and seizures, has_material_basis_in homozygous mutation in the ADPRHL2 gene on chromosome 1p34, and has_symptom seizures, muscle weakness, giat ataxia, impaired speach, hearing loss, and cerebellar atrophy.
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
A cataract that has_material_basis_in heterozygous mutation in the SLC16A12 gene on chromosome 10q23, characterized by progressive juvenile cataract with microcornea.
cataract 47
A cataract that has_material_basis_in homozygous mutation in the DNMBP gene on chromosome 10q24 and is characteriaed by infantile or early-childhood cataracts and visual impairment.
cataract 48
A bladder disease characterized by urinary urgency without urinary tract infection or obvious pathology, usually accompanied by urinary frequency and nocturia.
overactive bladder syndrome
An eye disease that is characterized by poor vision at birth, with development of bilateral phthisis by adulthood and that has_material_basis_in homozygous mutation in the MARK3 gene on chromosome 14q3.
visual impairment and progressive phthisis bulbi
A familial nephrotic syndrome that has_material_basis_in X-linked renal disorder characterized by onset of steroid-resistant nephrotic syndrome and proteinuria in the first years of life in affected males.
nephrotic syndrome type 20
A primary biliary cholangitis that has_material_basis_in variation at the IL12A locus on chromosome 3q25.33.
A primary biliary cholangitis that has_material_basis_in variation at the HLA-DQB1 locus on chromosome 6p21.3.
A primary biliary cholangitis that has_material_basis_in variation at the IL12RB2 locus on chromosome 1p31.2.
A primary biliary cholangitis that has_material_basis_in variation at the IRF5-TNPO3 locus on chromosome 7q32.
A primary biliary cholangitis that has_material_basis_in variation at the ZPBP2 locus on chromosome 17q12-q21.
A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBC1 gene on chromosome 17q25.
autosomal recessive chronic granulomatous disease 5
A restrictive dermopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.
restrictive dermopathy 1
A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.
restrictive dermopathy 2
A musculoskeletal system disease that affects the muscles.
A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function.
skeletal disease
A bone disease that results_in formation or resorption abnormalities located_in bone.
A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage.
A bone structure disease that results_in change or damage of structure located_in bone.
A bone disease that results_in an interruption of blood supply located_in bone.
A X-linked monogenic disease that has_material_basis_in dominant inheritance.
A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure.
A bone remodeling disease that results in an abnormal decrease of bone density or mass.
A X-linked monogenic disease that has_material_basis_in recessive inheritance.
A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.
A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development.
An ischemic bone disease the has_material_basis_in nitrogen embolization located_in bone.
Caisson disease of bone
DON
An osteochondrodysplasia that is characterized by abnormally broad ends of the arm and leg long bones resembling a boat oar or paddle due to enlargement of the spongy inner layer of bone.
Bakwin-Krida syndrome
Pyle's disease
Pyle-Cohn syndrome
A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism.
Jansen Disease
Jansen Metaphyseal Dysostosis
Jansen metaphyseal chondrodysplasia
Murk Jansen Type Metaphyseal Chondrodysplasia
A metaphyseal dysplasia that results_in dwarfism and bowed legs.
Japanese type spondylometaphyseal dysplasia
Schmid type metaphyseal dysplasia
An osteochondrodysplasia that results from mutations autosomal recessive inheritance of mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss.
CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS
NANCE-INSLEY SYNDROME
NANCE-SWEENEY CHONDRODYSPLASIA
otospondylomegaepiphyseal dysplasia, autosomal recessive
An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis.
A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).
spondyloepimetaphyseal dysplasia, Strudwick type
An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia resulting in gait instability and that has_material_basis_in homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13.
autosomal recessive spinocerebellar ataxia 16
A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities.
spondyloepimetaphyseal dysplasia, Missouri type
A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue.
An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal.
An osteosclerosis that is characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses.
A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull.
van Buchem disease
A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate.
Worth's syndrome
autosomal dominant endosteal hyperostosis
autosomal dominant osteosclerosis
benign form of Worth hyperostosis corticalis generalisata with torus platinus
An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges.
An osteosclerosis that results_in coarsening located_in trabecular bone.
A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures.
Baker's disease
An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.
An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that has_material_basis_in homozygous mutation in the GRID2 gene on chromosome 4q22.
autosomal recessive spinocerebellar ataxia 18
An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disproportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period.
An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen.
An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face.
A syndrome that is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems.
An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism.
SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC
pseudoachondroplastic dysplasia
An osteochondrodysplasia that is characterized by mesomelia and acromelia, which results_in short limb dwarfism.
An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the vertebral column and shortening of the limb middle and distal segments.
An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot.
acromesomelic dwarfism
acromesomelic dysplasia, Hunter-Thompson type
An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones.
grebe chondrodysplasia
An pseudohypoparathyroidism that has_material_basis_in lack of responsiveness to parathyroid hormone which results in shortening and widening of long bones of the located in hand or located in foot along with short stature, obesity, and rounded face.
Albright hereditary osteodystrophy
pseudohypoparathyroidism type 1a
An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine.
achondrogenesis Houston-Harris type
An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen.
achondrogenesis Fraccaro type
An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis.
An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the RUBCN gene on chromosome 3q29.
autosomal recessive spinocerebellar ataxia 15
An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability and that has_material_basis_in homozygous mutation in the SPTBN2 gene on chromosome 11q13.
autosomal recessive spinocerebellar ataxia 14
An autosomal recessive cerebellar ataxia that is characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life and that has_material_basis_in compound heterozygous mutation in the TPP1 gene on chromosome 11p15.
autosomal recessive spinocerebellar ataxia 7
An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia and that has_material_basis_in homozygous mutation in the WWOX gene on chromosome 16q23.
autosomal recessive spinocerebellar ataxia 12
An autosomal recessive cerebellar ataxia that is characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein, and has_material_basis_in homozygous or compound heterozygous mutation in the senataxin gene on chromosome 9q34.
autosomal recessive spinocerebellar ataxia 2
An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development beginning in infancy and that has_material_basis_in homozygous mutation in the GRM1 gene on chromosome 6q24.
autosomal recessive spinocerebellar ataxia 13
An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the SYT14 gene on chromosome 1q32.
autosomal recessive spinocerebellar ataxia 11
An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CWF19L1 gene on chromosome 10q24.
autosomal recessive spinocerebellar ataxia 17
An autosomal recessive cerebellar ataxia that is characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia and that has_material_basis_in homozygous mutation in the SLC9A1 gene on chromosome 1p36.
autosomal recessive spinocerebellar ataxia 19
An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has_material_basis_in homozygous mutation in the SNX14 gene on chromosome 6q14.
autosomal recessive spinocerebellar ataxia 20
A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait.
hereditary motor and sensory neuropathy with pyramidal features
A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity.
hereditary motor and sensory neuropathy type 6
A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa.
A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene.
I-cell disease
mucolipidosis II
A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase.
mucolipidosis III
A colonic disease that is characterized by bowel obstruction resulting from impairment of the muscle contractions that move food through the digestive tract.
A spina bifida that is characterized by minor splits in the vertebrae where the outer part of some of the vertebrae is not completely closed.
A physical disorder characterized by incomplete closure of the neural tube.
A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PSAT1 gene on chromosome 9q21.1, causing issues producing the amino acid serine.
A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PHGDH gene on chromosome 1p12, causing issues producing the amino acid serine.
A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC34A1 gene on chromosome 5q35.
hypophosphatemic nephrolithiasis/osteoporosis 1
A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC9A3R1 gene on chromosome 17q25.1.
hypophosphatemic nephrolithiasis/osteoporosis 2
A nonsyndromic congenital nail disorder that is characterized by excessive longitudinal striations and numerous superficial pits on the nails, which have a distinctive rough, sand paper-like appearance.
nonsyndromic congenital nail disorder 10
twenty-nail dystrophy
A nonsyndromic congenital nail disorder that is characterized by nails that are abnormally thin and concave from side to side, with turned up edges.
A nonsyndromic congenital nail disorder that is characterized by white discoloration of the nails.
A nonsyndromic congenital nail disorder that is characterized by complete absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies, and that has_material_basis_in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13.
HYPONYCHIA CONGENITA
anonychia congenita
A nonsyndromic congenital nail disorder that is characterized by a decreased growth rate, thick and hard nails, and a straight or concave proximal edge of detachment.
A nonsyndromic congenital nail disorder that is characterized by partial absences of nails.
A nonsyndromic congenital nail disorder that is characterized by nails with longi- tudinal streaks, thinning of the nail plate, poorly developed or absent lunulae, along with variously disturbed formation of the nail plate leading to increased vulnerability of the free nail margins.
A nonsyndromic congenital nail disorder that is characterized by dystrophy of the toenails only.
A nonsyndromic congenital nail disorder that is characterized by normal nails at birth with dystrophic changes developing within the first decade of life, resulting in onycholysis of fingernails and anonychia of toenails.
A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the STIM1 gene on chromosome 11p15.
A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with infantile or early childhood onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26.
A myofibrillar myopathy that is characterized by predominantly proximal muscle weakness associated with spheroid body inclusions and that has_material_basis_in heterozygous mutation in the myotilin gene on chromosome 5q31.
A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35.
autosomal recessive limb-girdle muscular dystrophy type 2R
desminopathy
A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23.
alpha-b crystallinopathy
A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the TTID gene on chromosome 5q31.
autosomal dominant limb-girdle muscular dystrophy type 1A
myotilinopathy
A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the ZASP gene on chromosome 10.
zaspopathy
A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32.
filaminopathy
A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26.
BAG3-related myofibrillar myopathy
A myofibrillar myopathy that has_material_basis_in homozygous mutation in the KY gene on chromosome 3q22.
A mitochondrial myopathy that is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.
myopathy, lactic acidosis, and sideroblastic anemia
A myopathy that is characterized by the lack of muscle tone or floppiness at birth.
A congenital myopathy that has_material_basis_in homozygous mutation in the CNTN1 gene on chromosome 12q12 and that is characterized antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels.
A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs.
CFTD
A congenital myopathy that is characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions.
A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP6 gene.
A syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has_material_basis_in homozygous mutation in the PLK4 gene.
A syndrome that is characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus and has_material_basis_in compound heterozygous mutation in the TUBGCP4 gene.
A myopathy that is characterized by an increased urinary excretion of myoglobin.
myoglobinuria
A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs.
infantile myofibromatosis
A syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits.
contractures, pterygia, and spondylocarpotarsal fusion syndrome
A mitochondrial complex III deficiency characterized by onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development and that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded BCS1L gene on chromosome 2q35.
mitochondrial complex III deficiency nuclear type 1
A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRB gene on chromosome 8q22.
mitochondrial complex III deficiency nuclear type 3
A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRQ gene on chromosome 5q31.
mitochondrial complex III deficiency nuclear type 4
A mitochondrial complex III deficiency characterized by neonatal onset of severe metabolic acidosis associated with hyperammonemia and hypoglycemia and that has_material_basis_in homozygous mutation in the UQCRC2 gene on chromosome 16p12.
mitochondrial complex III deficiency nuclear type 5
A mitochondrial complex III deficiency characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection and that has_material_basis_in homozygous mutation in the CYC1 gene on chromosome 8q24.
mitochondrial complex III deficiency nuclear type 6
A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC2 gene on chromosome 6p21.
mitochondrial complex III deficiency nuclear type 7
A mitochondrial complex III deficiency characterized by childhood onset of progressive neurodegeneration that has_material_basis_in homozygous mutation in the LYRM7 gene on chromosome 5q23.
mitochondrial complex III deficiency nuclear type 8
A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC3 gene on chromosome 11q12.
mitochondrial complex III deficiency nuclear type 9
A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene on chromosome 22q13.
mitochondrial DNA depletion syndrome 1 (MNGIE type)
mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related
mitochondrial DNA depletion syndrome 1
A mitochondrial DNA depletion syndrome that is characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial thymidine kinase gene on chromosome 16q21.
TK2-related mitochondrial DNA depletion syndrome, myopathic form
mitochondrial DNA depletion syndrome 2
A mitochondrial DNA depletion syndrome that is characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the deoxyguanosine kinase gene on chromosome 2p13.
deoxyguanosine kinase deficiency
mitochondrial DNA depletion syndrome 3
A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma on chromosome 15q26.
Alper's syndrome
Alpers disease
Alpers progressive infantile poliodystrophy
Alpers syndrome
Alpers' disease or gray-matter degeneration
progressive sclerosing poliodystrophy
A mitochondrial DNA depletion syndrome that is characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness, and has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the mitochondrial DNA polymerase gamma gene on chromosome 15q26.
mitochondrial neurogastrointestinal encephalopathy syndrome
mitochondrial DNA depletion syndrome 4b
A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the beta subunit of the succinate-CoA ligase gene on chromosome 13q14.
succinate-CoA ligase deficiency
mitochondrial DNA depletion syndrome 5
A mitochondrial DNA depletion syndrome that is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial inner membrane protein MPV17 gene on chromosome 2p23.
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
Navajo neurohepatopathy
mitochondrial DNA depletion syndrome 6
A mitochondrial DNA depletion syndrome that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the C10ORF2 gene, which encodes the twinkle and twinky proteins, on chromosome 10q24.
OHAHA SYNDROME
infantile onset spinocerebellar ataxia
mitochondrial DNA depletion syndrome 7
A mitochondrial DNA depletion syndrome that is characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the ribonucleotide reductase regulatory TP53 inducible subunit M2B gene on chromosome 8q22.
RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
mitochondrial DNA depletion syndrome 8a
A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the alpha subunit of the succinate-CoA ligase gene on chromosome 2p11.
fatal infantile lactic acidosis
mitochondrial DNA depletion syndrome 9
A mitochondrial DNA depletion syndrome that is characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial genome maintenance exonuclease 1 gene on chromosome 20p11.
progressive external ophthalmoplegia-myopathy-emaciation syndrome
mitochondrial DNA depletion syndrome 11
A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35.
mitochondrial DNA depletion syndrome 12a
A mitochondrial DNA depletion syndrome that is characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the F-box and leucine-rich repeat protein 4 gene on chromosome 6q16.
FBXL4 deficiency
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
mitochondrial DNA depletion syndrome 13, encephalomyopathic type
mitochondrial DNA depletion syndrome 13
A mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the acylglycerol kinase gene on chromosome 7q34.
mitochondrial DNA depletion syndrome 10
mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)
Sengers syndrome
A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the NFU1 iron-sulfur cluster scaffold gene on chromosome 2p13.
NFU1 deficiency
multiple mitochondrial dysfunctions syndrome 1
A multiple mitochondrial dysfunctions syndrome that is characterized by increased serum glycine and lactate, developmental regression in infancy, an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the bolA family member 3 gene on chromosome 2p13.
BOLA3 deficiency
multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia
multiple mitochondrial dysfunctions syndrome 2
A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor IBA57 gene on chromosome 1q42.
IBA57 deficiency
multiple mitochondrial dysfunctions syndrome 3
A multiple mitochondrial dysfunctions syndrome that is characterized by normal development for the first months of life, followed by progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus, resulting in death in early childhood, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the iron-sulfur cluster assembly 2 gene on chromosome 14q24.
multiple mitochondrial dysfunctions syndrome 4
A multiple endocrine neoplasia that is characterized by hyperparathyroidism and multiple endocrine tumors and that has_material_basis_in mutations in the CDKN1B gene on chromosome 12p13 resulting in a reduction in the amount of functional p27 tumor suppressor protein which allows cells to grow and divide unchecked.
Multiple Endocrine Neoplasia, Type IV
multiple endocrine neoplasia type 4
A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and has_material_basis_in homozygous mutation in the PIGN gene on chromosome 18q21.
multiple congenital anomalies-hypotonia-seizures syndrome 1
A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22.
developmental and epileptic encephalopathy 20
early infantile epileptic encephalopathy 20
glycosylphosphatidylinositol biosynthesis defect 4
multiple congenital anomalies-hypotonia-seizures syndrome 2
A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and that has_material_basis_in homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13.
multiple congenital anomalies-hypotonia-seizures syndrome 3
A mosaic variegated aneuploidy syndrome that is characterized by slow growth before and after birth, shorter than average height, unusually small head size, and an increased risk of developing cancer in childhood, and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1B gene on chromosome 15q15.
mosaic variegated aneuploidy syndrome 1
A mosaic variegated aneuploidy syndrome that is characterized by slowly before and after birth and typically normal head size and that has_material_basis_in homozygous or compound heterozygous mutation in the CEP57 gene on chromosome 11q21.
mosaic variegated aneuploidy syndrome 2
An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position.
congenital fibrosis of the extraocular muscles
An acute lymphocytic leukemia occuring during childhood.
Childhood Acute Lymphoblastic Leukemia
childhood acute lymphocytic leukemia
A childhood acute lymphoblastic leukemia that has_material_basis_in T-cells.
T-cell childhood acute lymphocytic leukemia
childhood precursor T-lymphoblastic lymphoma/leukemia
childhood T-cell acute lymphoblastic leukemia
A childhood acute lymphoblastic leukemia that has_material_basis_in B-cells.
childhood B-cell acute lymphoblastic leukemia
A lymphoma that has_material_basis_in immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage and located_in primarily lymph nodes or located_in extranodal sites.
lymphoblastic lymphoma
A lymphoblastic lymphoma that has_material_basis_in T-cells and that occurs during childhood.
Childhood T lymphoblastic lymphoma
T-cell childhood lymphoblastic lymphoma
An acute monocytic leukemia occurring in adults.
A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland.
adrenocorticotropic hormone deficiency
A lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting.
medium chain acyl-CoA dehydrogenase deficiency
A lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids.
short chain acyl-CoA dehydrogenase deficiency
A lipid metabolism disorder that is characterized by deficiency of the enzyme very long chain acyl-CoA dehydrogenase that results in the inability to convert very long chain fatty acids.
very long chain acyl-CoA dehydrogenase deficiency
An adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has_material_basis_in the nuclear receptor NR0B1 (DAX1) gene.
congenital adrenal hypoplasia
X-linked adrenal hypoplasia congenita
A keratitis that has_material_basis_in herpes simplex type infection.
dendritic keratitis
herpes simplex virus keratitis
A fungal meningitis that has_material_basis_in Crypococcus fungal infection.
Cryptococcal meningitis
A retinitis that has_material_basis_in Cytomegalovirus.
CMV retinitis
Cytomegalovirus retinitis
A candidiasis that is characterized by Candida infection located_in the skin.
cutaneous candidiasis
A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus.
lupus nephritis
An immune system disease that is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in autosomal recessive inheritance of homozygous loss-of-function mutations in the OTULIN gene encoding a deubiquitinase with linear linkage specificity on chromosome 5p15.
autoinflammation, panniculitis and dermatosis syndrome
otulin-related autoinflammatory syndrome
otulipenia
A myeloid neoplasm that is characterized by the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases.
Myeloid and Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2
Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms
myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1
A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts.
Myeloid and Lymphoid Neoplasms with PDGFRA Rearrangement
myeloid and lymphoid neoplasms associated with PDGFRA rearrangement
A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRB gene, most often resulting in the formation of ETV6-PDGFRB fusion transcripts.
Myeloid and Lymphoid Neoplasms with PDGFRB Rearrangement
myeloid and lymphoid neoplasms associated with PDGFRB rearrangement
A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint.
myeloid and lymphoid neoplasms associated with FGFR1 abnormalities
A tricuspid valve disease characterized by a missing or abnormally developed tricuspid heart value at birth.
tricuspid atresia
A calcinosis that is characterized by massive periarticular, and seldom visceral, deposition of calcified tumors.
normophosphatemic familial tumoral calcinosis
A gastrointestinal system disease that is characterized by abnormal development of the esophagus and trachea where the upper esophagus does not connect (atresia) to the lower esophagus and stomach and may also include tracheoesophageal fistula where the esophagus and the trachea are abnormally connected which allows fluids from the esophagus to get into the airways and interfere with breathing.
esophageal atresia and/or tracheoesophageal fistula
tracheoesophageal fistula with or without esohageal atresia
esophageal atresia/tracheoesophageal fistula
An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines.
TPMT deficiency
poor metabolism of thiopurines-1
thiopurine S-methyltransferase deficiency
A physical disorder that is characterized as a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system and sometimes the intestinal tract.
exstrophy-epispadias complex
bladder exstrophy-epispadias-cloacal exstrophy complex
A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. The rear portion of the bladder wall (posterior vesical wall) turns outward (exstrophy) through an opening in the abdominal wall and urine is excreted through this opening.
bladder exstrophy
A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by a defect in the urethra, bladder and bowel.
A bacterial meningitis that has_material_basis_in Neisseria meningitidis infection.
meningococcal meningitis
A hepatic vascular disease that is characterized by obstruction of some of the small veins of the liver.
veno-occlusive disease
hepatic veno-occlusive disease
A gastrointestinal system disease that is characterized by painful inflammation and ulceration of the mucous membranes lining the digestive tract.
mucositis
A bacterial meningitis that has_material_basis_in Haemophilus influenzae infection.
haemophilus meningitis
A syndrome that is characterized in neonates by microcephaly, craniofacial disproportion, spasticity, seizures, irritability and brainstem dysfunction including feeding difficulties, ocular abnormalities and findings on neuroimaging such as calcifications, cortical disorders and ventriculomegaly and has_material_basis_in the acquisition of Zika virus infection in utero.
ZIKV congenital infection
Zika virus congenital syndrome
A syndrome that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract.
polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
PHARC syndrome
A fibrolamellar carcinoma that is characteirzed by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components.
mixed fibrolamellar hepatocellular carcinoma
A colon carcinoma that is characterized by a solid growth pattern.
medullary colon carcinoma
A bronchiolo-alveolar adenocarcinoma that is characterized by a mixed array of different patterns (acinar, papillary, bronchioloalveolar, solid with mucin).
indeterminate bronchioloalveolar carcinoma
mixed mucinous and non-mucinous bronchioloalveolar adenocarcinoma
mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma
A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion.
mucinous bronchioloalveolar adenocarcinoma
A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation.
nonmucinous bronchioloalveolar adenocarcinoma
A chronic leukemia characterized by neutrophilic leukocytosis with no detectable Philadelphia chromosome or BCR/ABL fusion gene.
chronic neutrophilic leukemia
A chronic leukemia characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood.
chronic myelomonocytic leukemia
A cell type cancer of vascular origin that is characterized by the proliferation of endothelial cells in and about the vascular lumen.
malignant hemangioma
A malignant hemangioma characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma.
malignant epithelioid hemangioendothelioma
A syndrome characterized as a spectrum of disorders (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) caused by germline mutations of the PTEN gene.
PTEN hamartoma tumor syndrome
A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission.
relapsed/refractory diffuse large B-cell lymphoma
An inner ear disease characterized by dehiscence in the bone overlying the superior semicircular canal experience with symptoms of pressure or sound-induced vertigo, bone conduction hyperacusis, and pulsatile tinnitus.
canal dehiscence syndrome
superior canal dehiscence
superior canal syndrome
superior semicircular canal dehiscence syndrome
third mobile window syndrome
superior semicircular canal dehiscence
A syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive.
Carey-Fineman-Ziter syndrome
A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development.
Garland-Moorhouse syndrome
Marinesco-Garland syndrome
Oligophrenic cerebellolenticular degeneration
hereditary oligophrenic cerebello-lental degeneration
Marinesco-Sjogren syndrome
A syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia.
MFDM syndrome
mandibulofacial dysostosis with microcephaly
mandibulofacial dysostosis-microcephaly syndrome
mandibulofacial dysostosis, Guion-Almeida type
A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13.
congenital muscular dystrophy with cataracts and intellectual disability
An intrinsic cardiomyopathy characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium and has_material_basis_in a mutation in the gene encoding mitochondrial cytochrome b.
infantile histiocytoid cardiomyopathy
A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa.
colorectal carcinoma
A renal agenesis that is characterized by the absence of both kidneys at birth.
bilateral renal aplasia
A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability.
Krause-Kivlin syndrome
Peters anomaly-short limb dwarfism syndrome
Peters-plus syndrome
Peters plus syndrome
An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells.
adenoid cystic carcinoma
A kidney disease that is characterized by abnormally small kidneys with normal morphology and reduced number of nephrons.
renal hypoplasia
A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux.
Congenital anomalies of the kidney and urinary tract
Renal or urinary tract malformation
CAKUT
A CAKUT that has_material_basis_in heterozygous mutation in the DSTYK gene on chromosome 1q32.
Congenital anomalies of the kidney and urinary tract 1
CAKUT1
A CAKUT that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14.
Congenital anomalies of the kidney and urinary tract 2
CAKUT2
A fatty liver disease characterized by the storing of excess fat in liver cells which is not caused by heavy alcohol use.
NAFLD
non-alcoholic fatty liver disease
A sideroblastic anemia characterized by onset of severe sideroblastic anemia in the neonatal period or infancy, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26.
SIFD
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
A diffuse large B-cell lymphoma that is is characterized by a diffuse proliferation of medium to large B-cells associated with sclerosis.
Large cell lymphoma of the mediastinum
Mediastinal diffuse large-cell lymphoma with sclerosis
Primary mediastinal clear cell lymphoma of B-cell type
primary mediastinal B-cell lymphoma
A marginal zone B-cell lymphoma which morphologically resembles lymph nodes involved by marginal zone lymphomas of extranodal or splenic types, but without evidence of extranodal or splenic disease.
nodal marginal zone lymphoma
A autosomal recessive polycystic kidney disease that has_material_basis_in mutation in the PKD4 gene.
polycystic kidney disease 4
A punctate palmoplantar keratoderma that is characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections on the palms, soles and digits.
punctate palmoplantar keratoderma type II
A punctate palmoplantar keratoderma that is characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles.
punctate palmoplantar keratoderma type 1A
punctate palmoplantar keratoderma type 1B
punctate palmoplantar keratoderma type I
A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1.
early infantile epileptic encephalopathy 8
developmental and epileptic encephalopathy 8
An intestinal atresia that is characterized by congenital absence or complete closure of a portion of the lumen of the duodenum.
duodenal atresia
A lipid storage disease characterized by lysosomal and lipase deficiency.
lysosomal acid lipase deficiency
A pneumothorax that is characterized by an abnormal accumulation of air in the space between the lungs and the chest cavity that can result in the partial or complete collapse of a lung.
primary spontaneous pneumothorax
A hyperthyroxinemia that is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals and that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12.
dystransthyretinemic hyperthyroxinemia
A pseudohypoparathyroidism characterized by isolated renal parathyroid hormone (PTH) resistance resulting in hypocalcemia, hyperphosphatemia and elevated PTH levels that has_material_basis_in mutations that alter the methylation pattern of GNAS on 20q13.32.
pseudohypoparathyroidism type IB
A palmoplantar keratosis that is characterized by marked hyperkeratosis on the surface of palms and soles.
epidermolytic palmoplantar keratoderma
An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has_material_basis_in autosomal dominant inheritance of mutation in the COL7A1 gene, which encodes a protein that assists assembly of type VII collagen.
autosomal dominant dystrophic epidermolysis bullosa
An amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22.
amyotrophic lateral sclerosis type 23
An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has_material_basis_in heterozygous mutation in the CLTC gene on chromosome 17q23.
autosomal dominant intellectual developmental disorder-56
autosomal dominant mental retardation 56
autosomal dominant intellectual developmental disorder 56
An autosomal dominant intellectual developmental disorder that is characterized by onset of myoclonic seizures in the first years of life, global developmental delay, intellectual disability, speech delay and ataxic gait that has_material_basis_in heterozygous mutation in the NUS1 gene on chromosome 6q22.
autosomal dominant intellectual developmental disorder-55 with seizures
autosomal dominant mental retardation 55
autosomal dominant intellectual developmental disorder 55
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2A gene on chromosome 5q32.
autosomal dominant mental retardation 53
autosomal dominant intellectual developmental disorder 53
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2B gene on chromosome 7p13.
autosomal dominant mental retardation 54
autosomal dominant intellectual developmental disorder 54
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the ASH1L gene on chromosome 1q22.
autosomal dominant mental retardation 52
autosomal dominant intellectual developmental disorder 52
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KMT5B gene on chromosome 11q13.
autosomal dominant mental retardation 51
autosomal dominant intellectual developmental disorder 51
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the NAA15 gene on chromosome 4q31.
autosomal dominant intellectual developmental disorder-50 with behavioral abnormalities
autosomal dominant mental retardation 50
autosomal dominant intellectual developmental disorder 50
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIP12 gene on chromosome 2q36.
autosomal dominant intellectual disability 49
autosomal dominant mental retardation 49
Clark-Baraitser syndrome
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the RAC1 gene on chromosome 7p22.
autosomal dominant mental retardation 48
autosomal dominant intellectual developmental disorder 48
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CIC gene on chromosome 19q13.
autosomal dominant mental retardation 45
autosomal dominant intellectual developmental disorder 45
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KCNQ5 gene on chromosome 6q14.
autosomal dominant mental retardation 46
autosomal dominant intellectual developmental disorder 46
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the STAG1 gene on chromosome 3q22.
autosomal dominant mental retardation 47
autosomal dominant intellectual developmental disorder 47
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the RUN and SH3 domain containing 2 gene (RUSC2) on chromosome 9p13.
Alwadei syndrome
autosomal recessive intellectual developmental disorder-61
autosomal recessive mental retardation 61
autosomal recessive intellectual developmental disorder 61
A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in OGT on chromosome Xq13.1.
non-syndromic X-linked intellectual disability 106
A syndromic X-linked intellectual disability that has_material_basis_in mutation in the RPL10 gene on chromosome Xq28.
syndromic X-linked mental retardation 35
A syndromic X-linked intellectual disability that is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures and that has_material_basis_in hemizygous or heterozygous mutation in the CNKSR2 gene on chromosome Xp22.
syndromic X-linked mental retardation Hough type
An amelogenesis imperfecta type 3 that is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places and that has_material_basis_in heterozygous mutation in the amelotin gene.
amelogenesis imperfecta type 3B
A Galloway-Mowat syndrome that has_material_basis_in hemizygous mutation in the LAGE3 gene on chromosome Xq28.
Galloway-Mowat syndrome 2
A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the OSGEP gene on chromosome 14q11.
Galloway-Mowat syndrome 3
A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TP53RK gene on chromosome 20q13.
Galloway-Mowat syndrome 4
A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the TPRKB gene on chromosome 2p13.
Galloway-Mowat syndrome 5
An erythrokeratodermia variabilis that is characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location and that has_material_basis_in heterozygous mutation in the gene encoding connexin-30.3 (GJB4) on chromosome 1p34.
erythrokeratodermia variabilis et progressiva 2
An erythrokeratodermia variabilis that is characterized by normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema and that has_material_basis_in heterozygous mutation in the gene encoding connexin-43 (GJA1) on chromosome 6q22.
erythrokeratodermia variabilis et progressiva 3
An erythrokeratodermia variabilis that is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet and that has_material_basis_in compound heterozygous mutation in the KDSR gene on chromosome 18q21.
erythrokeratodermia variabilis et progressiva 4
An erythrokeratodermia variabilis that has_material_basis_in homozygous mutation in the KRT83 gene on chromosome 12q13.
erythrokeratodermia variabilis et progressiva 5
A spastic ataxia that is characterized by onset of primarily motor dysfunction within the first year of life and that has_material_basis_in homozygous mutation in the NKX6-2 gene on chromosome 8q21.
spastic ataxia 8
A Meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13 and that is characterized by occipital encephalocele, polydactyly, polycystic kidneys, micrognathia, contractures, and perinatal lethality.
Meckel syndrome 13
An orofaciodigital syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13.
orofaciodigital syndrome XVI
A Meier-Gorlin syndrome that has_material_basis_in compound heterozygous mutation in the MCM5 gene on chromosome 22q12.
Meier-Gorlin syndrome 8
A Perrault syndrome that is characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility and that has_material_basis_in homozygous mutation in the ERAL1 gene on chromosome 17q11.
Perrault syndrome 6
An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous mutation in the SDR9C7 gene on chromosome 12q13.
autosomal recessive congenital ichthyosis 13
An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the SULT2B1 gene on chromosome 19q13.
autosomal recessive congenital ichthyosis 14
An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the ATG5 gene on chromosome 6q21.
autosomal recessive spinocerebellar ataxia 25
An autosomal recessive cerebellar ataxia that has_material_basis_in compound heterozygous mutation in the XRCC1 gene on chromosome 19q13.
autosomal recessive spinocerebellar ataxia 26
An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the EPS8L2 gene on chromosome 11p15.
autosomal recessive nonsyndromic deafness 106
An autosomal recessive nonsyndromic deafness that has_material_basis_in compound heterozygous mutation in the WBP2 gene on chromosome 17q25.
autosomal recessive nonsyndromic deafness 107
An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the ROR1 gene on chromosome 1p31.
autosomal recessive nonsyndromic deafness 108
An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in CTNNB1 on chromosome 3p22.1.
EVR7
exudative vitreoretinopathy 7
A familial nephrotic syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the sphingosine-1-phosphate lyase 1 (SGPL1) gene on chromosome 10q21.
nephrotic syndrome type 14
A primary ciliary dyskinesia that has_material_basis_in homozygous mutation in the DNAH1 gene on chromosome 3p21.
primary ciliary dyskinesia 37
An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the DMXL2 gene on chromosome 15q21.
autosomal dominant nonsyndromic deafness 71
An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SLC44A4 gene on chromosome 6p21.
autosomal dominant nonsyndromic deafness 72
An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PTPRQ gene on chromosome 12q21.
autosomal dominant nonsyndromic deafness 73
An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44.
autosomal dominant nonsyndromic deafness 34
A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MAGI2 gene on chromosome 7q21.
nephrotic syndrome type 15
A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KANK2 gene on chromosome 19p13.
nephrotic syndrome type 16
A autosomal recessive polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of homozygous mutation in the DZIP1L gene on chromosome 3q22.
polycystic kidney disease 5
A multiple mitochondrial dysfunctions syndrome that is characterized by progressive neurologic deterioration beginning in early infancy, with affected individuals having no psychomotor development and early-onset seizures with neurologic decline and spasticity, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly 1 gene on chromosome 9q21.
multiple mitochondrial dysfunctions syndrome 5
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC9 gene on chromosome 2q37.
Joubert syndrome 30
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13.
OMIM notes Meckel syndrome 13 and Joubert syndrome 29 are both caused by mutation in the TMEM107 gene [LS]
Joubert syndrome 29
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23.
Joubert syndrome 31
A Joubert syndrome that has_material_basis_in homozygous mutation in the SUFU gene on chromosome 10q24.
Joubert syndrome 32
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIBF1 gene on chromosome 13q21.
Joubert syndrome 33
A gingival fibromatosis that is characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues and that has_material_basis_in heterozygous mutation in the REST gene on chromosome 4q12.
gingival fibromatosis 5
A schizophrenia that has_material_basis_in heterozygous mutation in the RBM12 gene on chromosome 20q11.
schizophrenia 19
A developmental and epileptic encephalopathy characterized by early-onset seizures in most patients, intellectual disability, and variable behavioral abnormalities that has_material_basis_in heterozygous mutation in the YWHAG gene on chromosome 7q11.
early infantile epileptic encephalopathy 56
developmental and epileptic encephalopathy 56
A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has_material_basis_in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22.
early infantile epileptic encephalopathy 55
glycosylphosphatidylinositol biosynthesis defect 14
developmental and epileptic encephalopathy 55
A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of refractory multifocal seizures, global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language that has_material_basis_in heterozygous mutation in the KCNT2 gene on chromosome 1q31.
early infantile epileptic encephalopathy 57
developmental and epileptic encephalopathy 57
A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has_material_basis_in heterozygous mutation in the NTRK2 gene on chromosome 9q21.
early infantile epileptic encephalopathy 58
developmental and epileptic encephalopathy 58
An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the GRM1 gene on chromosome 6q24.
spinocerebellar ataxia 44
An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the FAT2 gene on chromosome 5q33.
spinocerebellar ataxia 45
An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the PLD3 gene on chromosome 19q13.
spinocerebellar ataxia 46
An orofaciodigital syndrome that has_material_basis_in homozygous mutation in the INTU gene on chromosome 4q28.
orofaciodigital syndrome XVII
A primary polycythemia characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the EPO gene on chromosome 7q21.
ECYT5
familial erythrocytosis 5
A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22.
early infantile epileptic encephalopathy 59
developmental and epileptic encephalopathy 59
A retinitis pigmentosa that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24.
retinitis pigmentosa 81
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24.
short-rib thoracic dysplasia 18 with polydactyly
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the NEFL gene on chromosome 8p21.
Charcot-Marie-Tooth disease dominant intermediate G
An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the IFT81 gene on chromosome 12q24.
short-rib thoracic dysplasia 19 with or without polydactyly
A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has_material_basis_in homozygous mutation in the UFM1 gene on chromosome 13q13.
hypomyelinating leukodystrophy 14
A Coffin-Siris syndrome that is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies and that has_material_basis_in heterozygous mutation in the ARID2 gene on chromosome 12q12.
Coffin-Siris syndrome 6
A lipodystrophy that is characterized by complete loss of adipose tissue.
complete generalized lipodystrophy
A lipodystrophy that is characterized by partial loss of adipose tissue.
partial lipodystrophy
A complete generalized lipodystrophy that is charcterized by generalized disappearance of fat occurring during childhood and adolescence where normal body fat is present at birth.
Lawrence syndrome
acquired generalized lipodystrophy
A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction.
atypical hemolytic-uremic syndrome
A sleep apnea that is characterized by a combination of central and obstructive sleep apnea.
complex sleep apnea
mixed sleep apnea
A lung adenocarcinoma with tumor cells floating in pools of mucin that distend alveolar spaces.
mucinous lung adenocarcinoma
A lung adenocarcinoma that is a very rare malignant mucus-producing neoplasm arising from the uncontrolled growth of transformed epithelial cells originating in lung tissue.
lung mucinous cystadenocarcinoma
A lung adenocarcinoma containing a signet cell ring component characterized by abundant intracellular mucin accumulation and a displaced crescentic nucleus.
signet ring lung adenocarcinoma
A lung adenocarcinoma that lacks acini, tubules, and papillae, and contains many mucin-containing cells.
solid adenocarcinoma with mucin production
A myopathy that is characterized by slowly progressive muscle weakness that can involve both proximal muscles and distal muscles.
myofibrillar myopathy
A myofibrillar myopathy that is characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PYROXD1 gene on chromosome 12p12.
myofibrillar myopathy 8
A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23.
fatal infantile hypertonic myofibrillar myopathy
A syndromic X-linked intellectual disability characterized by neonatal hypotonia with motor delay but no obvious ataxia, marked strabismus, early-onset complex partial seizures, and moderate to severe mental retardation and has_material_basis_in mutation in the oligophrenin-1 gene.
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance
A syndromic intellectual disability characterized by mild microcephaly, midbrain-hindbrain malformations, decreased reflexes, impaired fine motor movements, and variable dysmorphic features that has_material_basis_in homozygous mutation in ARHGEF2 on chromosome 1q22.
NEDMHM
neurodevelopmental disorder with midbrain and hindbrain malformations
A physical disorder that is characterized by fusion of maxilla and mandible.
CPLS syndrome
syngnathia
cleft palate-lateral synechia syndrome
A cone-rod dystrophy that is characterized by deterioration of the cone in childhood or early adult life and progressive deterioration of the rod photoreceptor cells in later life that has_material_basis_in mutation in GUCA1A on chromosome 6p21.1.
cone-rod dystrophy 14
A leukodystorphy characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worse with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline.
megalencephalic leukodystrophy megalencephaly-cystic leukodystorphy syndrome
vacuolating megalencephalic leukoencephalopathy with subcortical cysts
megalencephalic leukoencephalopathy with subcortical cysts
A megalencephalic leukoencephalopathy with subcortical cysts characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline, that has_material_basis_in homozygous or compound heterozygous mutation in MLC1 on chromosome 22q13.
Van Der Knaap disease
leukoencephalopathy with swelling and cysts
megalencephalic leukoencephalopathy with subcortical cysts 1
A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and mildly delayed motor development associated with white matter abnormalities that improve with age, and sometimes mental retardation that has_material_basis_in heterozygous mutation in HEPACAM on chromosome 11q24.
megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
megalencephalic leukoencephalopathy with subcortical cysts 2B
A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, cognitive decline of variable severity, white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts that has_material_basis_in homozygous or compound heterozygous mutation in HEPACAM on chromosome 11q24.
megalencephalic leukoencephalopathy with subcortical cysts 2A
A T cell deficiency that is characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation in males and has_material_basis_in X-linked inheritance of mutations in the gene encoding magnesium transporter-1 (MAGT1).
XMEN
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
A central nervous system benign neoplasm the is located_in the peripheral nervous system.
peripheral nervous system benign neoplasm
A peripheral nervous system benign neoplasm that is located_in the autonomic nervous system.
autonomic nervous system benign neoplasm
A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure.
polycystic kidney disease
A squamous cell carcinoma located in the pancreas.
pancreatic squamous cell carcinoma
A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in heterozygous mutation in the TSC1 gene on chromosome 9q34.
tuberous sclerosis 1
A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TSC2 gene, which encodes tuberin, on chromosome 16p13.
tuberous sclerosis 2
A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations.
familial hypertrophic cardiomyopathy
A syndrome that is characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis and has_material_basis_in autosomal recessive homozygous mutation in the CEP55 gene on chromosome 10q23.
MARCH
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
A syndrome that is characterized by hypopituitarism (mainly growth hormone deficiency), and/or postaxial polydactyly and has_material_basis_in autosomal dominant heterozygous mutation in the GLI2 gene on chromosome 2q14. Midline facial defects and developmental delay can also be seen. The condition shows incomplete penetrance and high variable expressivity.
Culler-Jones syndrome
A cold-induced sweating syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CRLF1 gene on chromosome 19p13 and is characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention.
cold-induced sweating syndrome 1
A cold-induced sweating syndrome that has_material_basis_in compound heterozygous mutation in the CLCF1 gene on chromosome 11q13.
cold-induced sweating syndrome 2
A cold-induced sweating syndrome that has_material_basis_in homozygous mutation in the KLHL7 gene on chromosome 7p15.
cold-induced sweating syndrome 3
An aortic valve disease that is characterized by the presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives.
Familial bicuspid aortic valve
bicuspid aortic valve disease
A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the NOTCH1 gene on chromosome 9q34.
aortic valve disease 1
A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22.
aortic valve disease 2
A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35.
mitochondrial DNA depletion syndrome 12b
A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and profound neurodevelopmental delay, and has_material_basis_in homozygous mutation in the OPA1 mitochondrial dynamin like GTPase gene on chromosome 3q29.
mitochondrial DNA depletion syndrome 14
A mitochondrial DNA depletion syndrome that is characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial transcription factor A gene on chromosome 10q21.
mitochondrial DNA depletion syndrome 15
A primary polycythemia that has_material_basis_in heterozygous mutation in the EGLN1 gene on chromosome 1q42.
ECYT3
familial erythrocytosis 3
A primary polycythemia that has_material_basis_in autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21.
ECYT4
familial erythrocytosis 4
A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems.
Simpson-Golabi-Behmel syndrome type 2
A sideroblastic anemia that is characterized by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32.
autosomal recessive pyridoxine-refractory sideroblastic anemia 3
A syndrome that is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth.
Blepharo-cheilo-odontic syndrome
blepharocheilodontic syndrome
A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CDH1 gene on chromosome 16q22.
blepharocheilodontic syndrome 1
A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CTNND1 gene on chromosome 11q12.
blepharocheilodontic syndrome 2
An adrenal medulla cancer that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones.
Pheochromocytoma, malignant
malignant pheochromocytoma
An Alzheimer's disease that has_material_basis_in mutation heterozygous mutation in the APP gene, which encodes the amyloid precursor protein, on chromosome 21q21.
Alzheimer's disease 1, early onset
Alzheimer's disease 1
A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31.
AGC1 deficiency
early infantile epileptic encephalopathy 39
epileptic encephalopathy with global cerebral demyelination
developmental and epileptic encephalopathy 39
A retinitis pigmentosa that has_material_basis_in mutation in the REEP6 gene on chromosome 19p13.
retinitis pigmentosa 77
A syndrome that is characterized by congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformation, and epidermal nevi that has_material_basis_in somatic mosaicism for postzygotic activiating mutations in the PIK3CA gene on chromosome 3q26.
congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
CLOVES syndrome
A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11.
Conradi-Hunermann Syndrome
Happle syndrome
X-linked chondrodysplasia punctata 2
A rickets that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11.22.
X-linked recessive hypophosphatemic rickets
A chromosomal deletion syndrome that has_material_basis_in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development.
22q13.3 deletion syndrome
monosomy 22q13 syndrome
Phelan-McDermid syndrome
A gastrointestinal system cancer that is located_in the hepatobiliary system.
hepatobiliary system cancer
An autoimmune disease that is characterized by tumefactive lesions, a dense lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, storiform fibrosis, obliterative phlebitis, autoimmune pancreatitis, and sometimes elevated serum IgG4 levels affecting various organs.
IgG4-related disease
A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13.
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1
A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24.
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2
A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11.
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3
A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42.
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4
An inherited metabolic disorder characterized by the inabilty to break down trimethylamine and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding flavin-containing monooxygenase-3 on chromosome 1q24.
fish-odor syndrome
trimethylaminuria
A spondyloepiphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the SEDL gene on chromosome Xp22.
X-linked spondyloepiphyseal dysplasia tarda
A mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and has_material_basis_in homozygous mutation in the BRP44L gene on chromosome 6q27.
mitochondrial pyruvate carrier deficiency
A cell type cancer that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures, representing an early form of colorectal cancer.
malignant adenoma
An uterine benign neoplasm that is characterized by excessive proliferation of the cells of the endometrium.
endometrial hyperplasia
A connective tissue benign neoplasm that occur most often in the abdomen, arms and legs.
desmoid tumor
A chronic leukemia characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues.
chronic eosinophilic leukemia
A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts.
sex cord-stromal benign neoplasm
A sex cord-gonadal stromal tumor that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts.
ovarian sex-cord stromal tumor
A sex cord-stromal benign neoplasm that arises from the ovary.
ovarian sex cord-stromal benign neoplasm
A sex cord-stromal benign neoplasm that arises from the testis.
testicular sex cord-stromal benign neoplasm
An inflammatory myofibroblastic tumor composed of epithelioid or round cells with a characteristic perinuclear or nuclear membrane staining pattern with ALK immunohistochemistry, frequently dispersed in myxoid stroma with prominent neutrophils or lymphocytes, and often absence of plasma cells.
epithelioid inflammatory myofibroblastic sarcoma
A male reproductive system disease that is located_in the epididymis.
epididymis disease
A gastrointestinal system cancer that is located_in the proximal esophagus and the distal stomach.
gastroesophageal cancer
A gastroesophageal cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue.
gastric and esophageal adenocarcinoma
gastro-esophageal adenocarcinoma
gastroesophageal adenocarcinoma
A syndrome that is characterized by sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening and has_material_basis_in heterozygous mutation in the TRPS1 gene on chromosome 8q23.
trichorhinophalangeal syndrome type 3
trichorhinophalangeal syndrome type III
A peroxisomal biogenesis disorder that has_material_basis_in defects in PEX genes.
peroxisomal biogenesis disorder
A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS2 gene encoding podocin on chromosome 1q25-q31.
steroid-resistant autosomal recessive nephrotic syndrome
A familial nephrotic syndrome characterized by prenatal or neonatal onset of progressive renal failure with proteinurea and edema that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p.
nephrotic syndrome type 5, with or without ocular abnormalities
A familial nephrotic syndrome characterized by early onset of steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis that has_material_basis_in homozygous mutation in the NUP205 gene on chromosome 7q33.
A familial nephrotic syndrome characterized by early childhood onset, steroid restance and diffuse mesangial sclerosis in most patients that has_material_basis_in homozygous or compound heterozygous mutation in the PLCE1 gene on chromosome 10q23.
early onset nephrotic syndrome type 3
A familial nephrotic syndrome that has_material_basis_in heterozygous mutation in the WT1 gene on chromosome 11p13.
A familial nephrotic syndrome that has_material_basis_in homozygous mutation in the PTPRO gene on chromosome 12p12.
A familial nephrotic syndrome characterized by onset in the first decade of life of steroid resistant progressive renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15.
A familial nephrotic syndrome characterized by early childhood onset that has_material_basis_in homozygous or compound heterozygous mutation in the EMP2 gene on chromosome 16p13.
A familial nephrotic syndrome characterized by early childhood onset of steroid-resistant progressive renal failure with focal segmental glomerulosclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the NUP93 gene on chromosome 16q13.
A familial nephrotic syndrome characterized by onset in the first decade of life of progressive renal disease with proteinuria and membranoproliferative glomerulonephritis that has_material_basis_in homozygous or compound heterozygous mutation in the DGKE gene on chromosome 17q22.
Ig-mediated MPGN
Ig-mediated membranoproliferative glomerulonephritis
Immunoglobulin-mediated MPGN
immunoglobulin-mediated membranoproliferative glomerulonephritis
nephrotic syndrome type 7 with membranoptoliferative glomerulonephritis
A familial nephrotic syndrome characterized by neonatal or early childhood onset steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGDIA gene on chromosome 17q25.
A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13.
Finnish congenital nephrosis
A familial nephrotic syndrome characterized by steroid-resistant proteinuria, hypoalbuminemia and edema with onset in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the COQ8B gene on chromosome 19q13.
A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP85 gene on chromosome 17q25.
A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP133 gene on chromosome 1q42.
A familial nephrotic syndrome that has_material_basis_in compound heterozygous mutation in the NUP160 gene on chromosome 11p11.
An orofacial cleft characterized by autosomal dominant inheritance that has_material_basis_in variation in chromosome region 6p24.3.
nonsyndromic cleft lip with or without cleft palate 1
An orofacial cleft that has_material_basis_in variation in the chromosome region 2p13.
nonsyndromic cleft lip with or without cleft palate 2
An orofacial cleft that has_material_basis_in variation in the chromosomal region 19q13.
nonsyndromic cleft lip with or without cleft palate 3
An orofacial cleft that has_material_basis_in variation in the 4q21-q31 chromosomal region.
nonsyndromic cleft lip with or without cleft palate 4
An orofacial cleft that has_material_basis_in mutation in the MSX1 gene on chromosome 4p16.
nonsyndromic cleft lip with or without cleft palate 5
An orofacial cleft that has_material_basis_in by homozygous mutation in the PVRL1 gene on chromosome 11q23.
Zlotogora-Ogur syndrome
An orofacial cleft that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28.
An orofacial cleft that has_material_basis_in variation in the chromosome region 13q33.1-q34.
nonsyndromic cleft lip with or without cleft palate 9
An orofacial cleft that has_material_basis_in mutation in the SUMO1 gene on chromosome 2q33.
nonsyndromic cleft lip with or without cleft palate 10
An orofacial cleft that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.
nonsyndromic cleft lip with or without cleft palate 11
An orofacial cleft that has_material_basis_in variation in the chromosome region 8q24.3.
nonsyndromic cleft lip with or without cleft palate 12
An orofacial cleft characterized by autosomal doninant inhertitance that has_material_basis_in variation in chromosome region 1p33 associated with enrichment of the T allele of SNP rs3827730.
An orofacial cleft that is characterized by incomplete median clefts of both the lower lip and upper lip, double labial frenulum and fusion of the upper gingival and upper labial mucosa, in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors.
An orofacial cleft that has_material_basis_in mutation in the DLX4 gene on chromosome 17q21.
A familial adenomatous polyposis that has_material_basis_in heterozygous mutation in the APC gene on chromosome 5q22.
A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the MUTYH gene on chromosome 1p34.
MUTYH-associated polyposis
MUTYH-related attenuated FAP
MUTYH-related attenuated familial adenomatous polyposis
MUTYH-related attenuated familial polyposis coli
A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the NTHL1 gene on chromosome 16p13.
A familial adenomatous polyposis characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer and that has_material_basis_in compound heterozygous mutation in the MSH3 gene on chromosome 5q11.
A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34.
early infantile epileptic encephalopathy 18
developmental and epileptic encephalopathy 18
A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ST3GAL3 gene on chromosome 1p34.
early infantile epileptic encephalopathy 15
developmental and epileptic encephalopathy 15
A developmental and epileptic encephalopathy characterized by onset in the first months of life of intractable seizures, severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31.
Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome
early infantile epileptic encephalopathy 23
developmental and epileptic encephalopathy 23
A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has_material_basis_in heterozygous mutation in the KCNA2 gene on chromosome 1p13.
early infantile epileptic encephalopathy 32
developmental and epileptic encephalopathy 32
A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has_material_basis_in homozygous or compound heterozygous mutation in the ARV1 gene on chromosome 1q42.
early infantile epileptic encephalopathy 38
developmental and epileptic encephalopathy 38
A developmental and epileptic encephalopathy chraracterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44.
early infantile epileptic encephalopathy 54
developmental and epileptic encephalopathy 54
A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset seizures, severe developmental regression, and normocytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the CAD gene on chromosome 2p23.
CDG syndrome type Iz
CDG-Iz
Carbohydrate deficient glycoprotein syndrome type Iz
Congenital disorder of glycosylation type 1z
early infantile epileptic encephalopathy 50
developmental and epileptic encephalopathy 50
A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first weeks or months of life, severe to profound developmental delay, hypotonia, and impaired motor and cognitive development that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24.
early infantile epileptic encephalopathy 62
developmental and epileptic encephalopathy 62
A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurologic development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q24.
early infantile epileptic encephalopathy 11
developmental and epileptic encephalopathy 11
A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24.
developmental and epileptic encephalopathy 6
early infantile epileptic encephalopathy 6
A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory infantile spasms or myoclonus with developmental stagnation and severe neurologic impairment after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.
early infantile epileptic encephalopathy 44
developmental and epileptic encephalopathy 44
A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28.
early infantile epileptic encephalopathy 47
developmental and epileptic encephalopathy 47
A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of refractory infantile spasms and myoclonic seizures and evere to profound developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CPLX1 gene on chromosome 4p16.
early infantile epileptic encephalopathy 63
developmental and epileptic encephalopathy 63
A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12.
early infantile epileptic encephalopathy 40
developmental and epileptic encephalopathy 40
A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13.
early infantile epileptic encephalopathy 45
developmental and epileptic encephalopathy 45
A developmental and epileptic encephalopathy characterized by onset in infancy of refactory seizures, severely impaired global development, intellectual disability, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the HCN1 gene on chromosome 5p12.
early infantile epileptic encephalopathy 24
developmental and epileptic encephalopathy 24
A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has_material_basis_in heterozygous mutation in the CYFIP2 gene on chromosome 5q33.
early infantile epileptic encephalopathy 65
developmental and epileptic encephalopathy 65
A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life and mild to moderate impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA1 gene on chromosome 5q34.
early infantile epileptic encephalopathy 19
developmental and epileptic encephalopathy 19
A developmental and epileptic encephalopathy characterized by onset of infantile spasms, seizures, or myoclonus in the first months of life, hypsarrhythmia on EEG, and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CNPY3 gene on chromosome 6p.
early infantile epileptic encephalopathy 60
developmental and epileptic encephalopathy 60
A developmental and epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life and severely delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11.
early infantile epileptic encephalopathy 51
developmental and epileptic encephalopathy 51
A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM22 gene on chromosome 7q21.
early infantile epileptic encephalopathy 61
developmental and epileptic encephalopathy 61
A developmental and epileptic encephalopathy characterized by onset of intractable seizures or abnormal movement in the first years of life and developmental delay or regression after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the FRRS1L gene (604574) on chromosome 9q31.
early infantile epileptic encephalopathy 37
developmental and epileptic encephalopathy 37
A developmental and epileptic encephalopathy characterized by onset of tonic seizures in early infancy and severely impaired psychomotor development that has_material_basis_in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1.
early infantile epileptic encephalopathy 4
developmental and epileptic encephalopathy 4
A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34.
early infantile epileptic encephalopathy 31
developmental and epileptic encephalopathy 31
A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34.
early infantile epileptic encephalopathy 5
developmental and epileptic encephalopathy 5
A developmental and epileptic encephalopathy characterized by refractory focal seizures developing by 6 months of age and arrest of psychomotor development that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34.
early infantile epileptic encephalopathy 14
developmental and epileptic encephalopathy 14
A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15.
early infantile epileptic encephalopathy 3
developmental and epileptic encephalopathy 3
A developmental and epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15.
early infantile epileptic encephalopathy 49
developmental and epileptic encephalopathy 49
A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, severely impaired psychomotor development, and brain anomalies including delayed myelination, thin corpus callosum, and cerebral atrophy that has_material_basis_in heterozygous mutation in the SLC1A2 gene on chromosome 11p13.
early infantile epileptic encephalopathy 41
developmental and epileptic encephalopathy 41
A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13.
early infantile epileptic encephalopathy 21
developmental and epileptic encephalopathy 21
A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in the GRIN2B gene on chromosome 12p12.
early infantile epileptic encephalopathy 27
developmental and epileptic encephalopathy 27
A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13.
early infantile epileptic encephalopathy 13
developmental and epileptic encephalopathy 13
A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects that has_material_basis_in heterozygous mutation in the PACS2 gene on chromosome 14q32.
early infantile epileptic encephalopathy 66
developmental and epileptic encephalopathy 66
A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosome 15q11.
early infantile epileptic encephalopathy 43
developmental and epileptic encephalopathy 43
A developmental and epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has_material_basis_in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25.
early infantile epileptic encephalopathy 48
developmental and epileptic encephalopathy 48
A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.
early infantile epileptic encephalopathy 16
developmental and epileptic encephalopathy 16
A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the GNAO1 gene on chromosome 16q13.
early infantile epileptic encephalopathy 17
developmental and epileptic encephalopathy 17
A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory myoclonic seizures, poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation that has_material_basis_in homozygous or compound heterozygous mutation in the AARS1 gene on chromosome 16q22.
early infantile epileptic encephalopathy 29
developmental and epileptic encephalopathy 29
A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severe axial hypotonia, and profoundly impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the WWOX gene on chromosome 16q23.
early infantile epileptic encephalopathy 28
developmental and epileptic encephalopathy 28
A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13.
developmental and epileptic encephalopathy 25, with amelogenesis imperfecta
early infantile epileptic encephalopathy 25
developmental and epileptic encephalopathy 25
A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13.
early infantile epileptic encephalopathy 42
developmental and epileptic encephalopathy 42
A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13.
early infantile epileptic encephalopathy 52
developmental and epileptic encephalopathy 52
A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13.
early infantile epileptic encephalopathy 46
developmental and epileptic encephalopathy 46
A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13.
developmental and epileptic encephalopathy 10
early infantile epileptic encephalopathy 10
microcephaly, seizures, and developmental delay
A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13.
ITPA-related encephalopathy
early infantile epileptic encephalopathy 35
developmental and epileptic encephalopathy 35
A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3.
early infantile epileptic encephalopathy 12
developmental and epileptic encephalopathy 12
A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12.
early infantile epileptic encephalopathy 34
developmental and epileptic encephalopathy 34
A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KCNB1 gene on chromosome 20q13.
early infantile epileptic encephalopathy 26
developmental and epileptic encephalopathy 26
A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13.
KCNQ2-related epileptic encephalopathy
KCNQ2-related neonatal epileptic encephalopathy
early infantile epileptic encephalopathy 7
developmental and epileptic encephalopathy 7
A developmental and epileptic encephalopathy characterized by onset in the first months of life of seizures and severe global developmental delay with impaired intellectual development and poor or absent speech that has_material_basis_in heterozygous mutation in the EEF1A2 gene on chromosome 20q13.
early infantile epileptic encephalopathy 33
developmental and epileptic encephalopathy 33
A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22.
early infantile epileptic encephalopathy 53
developmental and epileptic encephalopathy 53
A developmental and epileptic encephalopathy characterized by onset in the first few months of life of refractory seizures andseverely impaired or absent developmental progress that has_material_basis_in heterozygous mutation in the SIK1 gene on chromosome 21q22.
early infantile epileptic encephalopathy 30
developmental and epileptic encephalopathy 30
A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22.
X-linked infantile spasm syndrome 2
early infantile epileptic encephalopathy 2
developmental and epileptic encephalopathy 2
A developmental and epileptic encephalopathy characterized by X-linked recessive inheritance of frequent tonic seizures or spasms beginning in infancy that has_material_basis_in mutation in the ARX gene on chromosome Xp21.
X-linked infantile spasm syndrome 1
early infantile epileptic encephalopathy 1
developmental and epileptic encephalopathy 1
A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23.
congenital disorder of glycosylation, type Is
early infantile epileptic encephalopathy 36
developmental and epileptic encephalopathy 36
A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34.
developmental and epileptic encephalopathy 92
A developmental and epileptic encephalopathy characterized by onset of refractory multifocal seizures in the first weeks or years of life, delayed psychomotor development, poor or absent speech, and severe to profound intellectual disability that has_material_basis_in heterozygous mutation in the PPP3CA gene on chromosome 4q24.
infantile or early childhood epileptic encephalopathy 1
developmental and epileptic encephalopathy 91
A syndromic intellectual disability characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component that has_material_basis_in heterozygous mutation in the DHDDS gene on chromosome 1p36.
developmental delay and seizures with or without movement abnormalities
A psoriasis characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein that has_material_basis_in homozygous or compound heterozygous mutation in the IL36RN gene on chromosome 2q14.
deficiency of IL-36R antagonist
A psoriasis that has_material_basis_in heterozygous mutation in the CARD14 gene on chromosome 17q25.
A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21.
peroxisome biogenesis disorder 1A (Zellweger)
A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13.
peroxisome biogenesis disorder 2A (Zellweger)
A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17.
peroxisome biogenesis disorder 3A (Zellweger)
A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1.
peroxisome biogenesis disorder 4A (Zellweger)
A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX2 gene on chromosome 8q21.
peroxisome biogenesis disorder 5A (Zellweger)
A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX10 gene on chromosome 1p36.
peroxisome biogenesis disorder 6A (Zellweger)
A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11.
peroxisome biogenesis disorder 7A (Zellweger)
A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11.
peroxisome biogenesis disorder 8A (Zellweger)
A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX3 gene on chromosome 6q24.
peroxisome biogenesis disorder 10A (Zellweger)
A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15.
peroxisome biogenesis disorder 11A (Zellweger)
A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX19 gene on chromosome 1q23.
peroxisome biogenesis disorder 12A (Zellweger)
A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX14 gene on chromosome 1p36.
peroxisome biogenesis disorder 13A (Zellweger)
A lipid storage disease that is characterized by increased storage of carbohydrates and lipids.
mucolipidosis
A GM1 gangliosidosis that is characterized by neurodegeneration and mild skeletal changes and with age at onset ranges from 3 to 30 years.
adult-onset GM1 gangliosidosis
GM1 gangliosidosis type 3
A mucolipidosis that is characterized by delayed development and vision impairment that worsens over time.
mucolipidosis type IV
A cerebral cavernous malformation that has_material_basis_in heterozygous mutation in the KRIT1 gene on chromosome 7q21.
cerebral cavernous malformation 1
A leukocyte adhesion deficiency that is characterized by the absence of Sialyl Lewis X of E-selectin resulting in recurrent bacterial infections, severe growth delay and severe intellectual deficit.
leukocyte adhesion deficiency 2
A 46 XX gonadal dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding follicle-stimulating hormone receptor on chromosome 2p16.
ovarian dysgenesis 1
A 46 XX gonadal dysgenesis that has_material_basis_in mutation in the BMP15 gene on chromosome Xp11.
ovarian dysgenesis 2
A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the PSMC3IP gene on chromosome 17q12-q21.
ovarian dysgenesis 3
A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MCM9 gene on chromosome 6q22.
ovarian dysgenesis 4
A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the SOHLH1 gene on chromosome 9q34.
ovarian dysgenesis 5
A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the NUP107 gene on chromosome 12q15.
ovarian dysgenesis 6
A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MRPS22 gene on chromosome 3q23.
ovarian dysgenesis 7
A 46 XX gonadal dysgenesis that has_material_basis_in heterozygous mutation in the ESR2 gene on chromosome 14q23.
ovarian dysgenesis 8
A GM1 gangliosidosis that is characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age.
juvenile GM1 gangliosidosis
GM1 gangliosidosis type 2
A GM1 gangliosidosis that is characterized by rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death.
GM1 gangliosidosis type 1
A lipid metabolism disorder that is characterized by phosphatidylinositol glycan anchor biosynthesis class A (PIGA) deficiency.
multiple congenital anomalies-hypotonia-seizures syndrome
A late onset Parkinson's disease that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the coiled-coil-helix-coiled-coil-helix domain containing 2 gene on chromosome 7p11.2.
autosomal dominant Parkinson's disease 22
Parkinson's disease 22
A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13.
Cornelia de Lange syndrome 1
A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11.
Cornelia de Lange syndrome 2
A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2.
Cornelia De Lange syndrome 3 with or without midline brain defects
Cornelia de Lange syndrome 3
A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24.
Cornelia De Lange syndrome 4 with or without midline brain defects
Cornelia de Lange syndrome 4
A Cornelia de Lange syndrome that has_material_basis_in by mutation in the HDAC8 gene on chromosome Xq13.
Cornelia de Lange syndrome 5
An epidermolysis bullosa simplex that is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet.
epidermolysis bullosa simplex Weber-Cockayne type
epidermolysis bullosa simplex localized type
An epidermolysis bullosa simplex that is characterized by widespread blisters that appear at birth or in early infancy.
epidermolysis bullosa simplex Koebner type
epidermolysis bullosa simplex generalized type
A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC1 gene on chromosome 1p32.
Meier-Gorlin syndrome 1
A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC4 gene on chromosome 2q23.
Meier-Gorlin syndrome 2
A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC6 gene on chromosome 16q11.
Meier-Gorlin syndrome 3
A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDT1 gene on chromosome 16q24.
Meier-Gorlin syndrome 4
A Meier-Gorlin syndrome that has_material_basis_in homozygous mutation in the CDC6 gene on chromosome 17q21.
Meier-Gorlin syndrome 5
A Meier-Gorlin syndrome that has_material_basis_in heterozygous mutation in the GMNN gene on chromosome 6p22.
Meier-Gorlin syndrome 6
A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDC45 gene on chromosome 22q11.
Meier-Gorlin syndrome 7
A syndrome that is characterised by pyoderma gangrenosum, pyogenic arthritis, acne and suppurative hidradenitis and heterozygous mutation in the PSTPIP1 gene on chromosome 15q24.
pyogenic arthritis, pyoderma gangrenosum and acne
PAPA syndrome
A hematopoietic system disease that is characterized by red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns and has_material_basis_in somatic mutation in the C1GALT1C1 gene on chromosome Xq24.
galactosyltransferase deficiency
Tn polyagglutination syndrome
A lung non-small cell carcinoma that is characterized by the lack of evidence of squamous differentiation.
non- squamous NSCLC
lung non-squamous non-small cell carcinoma
A thyroid gland carcinoma that is composed of undifferentiated cells.
anaplastic thyroid carcinoma
thyroid gland anaplastic carcinoma
A leukodystrophy that is characterized by progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy and has_material_basis_in heterozygous mutation in the CSF1R gene on chromosome 5q32.
hereditary diffuse leukoencephalopathy with spheroids
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
A thyroid gland carcinoma that derives_from epithelial cells of glandular origin.
thyroid gland adenocarcinoma
A thyroid gland adenocarcinoma characterized by extensive evidence of follicular cell differentiation.
differentiated thyroid gland carcinoma
A bronchiectasis that has_material_basis_in mutation in the gene encoding the beta subunit of the epithelial sodium channel on chromosome 16p12.
bronchiectasis 1
A bronchiectasis that has_material_basis_in mutation in the gene encoding the alpha subunit of the epithelial sodium channel.
bronchiectasis 2
A bronchiectasis that has_material_basis_in mutation in the gene encoding the gamma subunit of the epithelial sodium channel.
bronchiectasis 3
A granular corneal dystrophy that is characterized by recurrent erosions and gray crumb-like opacification located_in the cornea, proteinaceous rock candy-like deposits in the anterior stroma and subepithelium, and progressive vision loss later in life as deposits move into the central vision, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption of the corneal surface.
corneal dystrophy, Groenouw type I
granular corneal dystrophy 1
A liposarcoma that is characterized as a high-grade tumor that occurs when a lower-grade tumor changes and creates new high-grade cells.
dedifferentiated liposarcoma
A thoracic cancer that is characterized by poorly differentiated neoplasms with epithelioid/rhabdoid cells organized in a solid pattern and has_material_basis_in alterations in the switch/sucrose nonfermenting complex, also known in humans as BRG1-associated factors (BAF chromatin remodeling complex).
SMARCA4-DTS
Smarca4-deficient sarcoma of thorax
A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors.
Carney-Stratakis syndrome
A sarcoma that arises from the soft tissue and is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma.
fibromyxoid sarcoma
myxofibrosarcoma
A metal metabolism disorder that is characterized by involuntary, sustained muscle contractions (dystonia) and other uncontrolled movements resulting from excessive accumulation of manganese.
hypermanganesemia with dystonia
A hypermanganesemia with dystonia that is characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction and has_material_basis_in homozygous mutation in the SLC30A10 gene on chromosome 1q41.
hypermanganesemia with dystonia 1
A hypermanganesemia with dystonia that is characterized predominantly by loss of motor milestones in the first years of life and has_material_basis_in homozygous mutation in the SLC39A14 gene on chromosome 8p21.
hypermanganesemia with dystonia 2
A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21.
Sweeney-Cox syndrome
A brain disease that is characterized by extreme cerebellar atrophy due to almost total granule neuron loss.
PEHO syndrome
A lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that has_material_basis_in homozygous or compound heterozygous mutation in the CTSA gene on chromosome 20q13.
galactosialidosis
An amno acid metabolic disorder that is characterized by the excess of proline in the blood.
hyperprolinemia
A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11.
hyperprolinemia type I
hyperprolinemia type 1
A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36.
hyperprolinemia type II
hyperprolinemia type 2
A hyperimmunoglobin syndrome that is characterized by an immune system that fails to produce normal levels of the antibodies IgA, IgG and IgE but can produce normal or elevated levels of IgM.
immunodeficiency with hyper-IgM
hyper IgM syndrome
A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs.
hyper immunoglobulin E syndrome
hyper IgE syndrome
A nonalcoholic fatty liver disease that is characterized by the presence of at least 5% of hepatic steatosis with no evidence of hepatocellular injury in the form of hepatocyte ballooning.
NAFL
non-alcoholic fatty liver
A nonalcoholic fatty liver disease that is characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without any fibrosis.
NASH
non-alcoholic steatohepatitis
A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.
Noonan syndrome with multiple lentigines 1
A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the RAF1 gene on chromosome 3p25.
Noonan syndrome with multiple lentigines 2
A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34.
Noonan syndrome with multiple lentigines 3
A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has_material_basis_in homozygous mutation in the plakoglobin gene on chromosome 17q21.
Naxos disease
A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13.
PMM2-congenital disorder of glycosylation
congenital disorder of glycosylation 1a
A congenital disorder of glycosylation I that is characterized by fibroblasts with reduced dolichol profiles and enhanced accumulation of free cholesterol and has_material_basis_in homozygous mutation in the NUS1 gene on chromosome 6q22.
congenital disorder of glycosylation 1aa
congenital disorder of glycosylation Iaa
A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24.
congenital disorder of glycosylation 1b
A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31.
congenital disorder of glycosylation 1c
A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27.
congenital disorder of glycosylation 1d
A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13.
congenital disorder of glycosylation 1e
A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13.
congenital disorder of glycosylation 1f
A congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13.
ALG12-congenital disorder of glycosylation
congenital disorder of glycosylation 1g
A congenital disorder of glycosylation I that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia and has_material_basis_in heterozygous mutation in the gene encoding dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase on chromosome 11q14.
congenital disorder of glycosylation 1h
A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22.
congenital disorder of glycosylation 1i
A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23.
Congenital disorder of glycosylation 1j
A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13.
congenital disorder of glycosylation 1k
A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23.
congenital disorder of glycosylation 1l
A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34.
DOLK-congenital disorder of glycosylation
congenital disorder of glycosylation 1m
dolichol kinase deficiency
A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21.
congenital disorder of glycosylation 1n
A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14.
congenital disorder of glycosylation 1p
A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has_material_basis_in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12.
congenital disorder of glycosylation 1q
A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36.
congenital disorder of glycosylation 1r
A congenital disorder of glycosylation I that is characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity and has_material_basis_in homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31.
congenital disorder of glycosylation 1t
A congenital disorder of glycosylation I that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels and has_material_basis_in homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34.
congenital disorder of glycosylation 1u
A congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and has_material_basis_in homozygous mutation in the STT3A gene on chromosome 11q24.
congenital disorder of glycosylation 1w
A congenital disorder of glycosylation I that is characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties and has_material_basis_in homozygous mutation in the STT3B gene on chromosome 3p23.
congenital disorder of glycosylation 1x
A congenital disorder of glycosylation I that is characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus and has_material_basis_in hemizygous mutation in the SSR4 gene on chromosome Xq28.
congenital disorder of glycosylation 1y
A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12.
Larsen-like syndrome, B3GAT3 type
multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome
A spondyloepimetaphyseal dysplasia that is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses and has_material_basis_in homozygous or compound heterozygous mutation in the NANS gene on chromosome 9q22.
spondyloepimetaphyseal dysplasia, Genevieve-type
A genetic disease that is characterized by the additive contributions of variants in multiple genes at different loci.
polygenic disease
A polygenic disease that is characterized by expression of a phenotype that requires the presence of pathogenic variants in two different genes.
digenic disease
A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the alpha subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 3q27.
3-Methylcrotonyl-CoA carboxylase 1 deficiency
A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 5q13.
3-Methylcrotonyl-CoA carboxylase 2 deficiency
A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appeareance and that has_material_basis_in homozygous mutation in the ATAD1 gene on chromosome 10q23.
hyperekplexia 4
A hypotrichosis that is characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair and that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22.
hypotrichosis 14
A Wolfram syndrome that has_material_basis_in mutation in mtDNA.
DIDMOAD, mitochondrial form
diabetes mellitus AND insipidus with optic atrophy AND deafness mitochondrial form
Wolfram syndrome, mitochondrial form
A Wolfram syndrome that is characterized by congenital progressive hearing impairment, diabetes mellitus, and optic atrophy and that has_material_basis_in autosomal dominant inheritance of a heterozygous mutation in the WFS1 gene on chromosome 4p16.
autosomal dominant Wolfram syndrome
A Van Maldergem syndrome that has_material_basis_in homozygous mutation in the DCHS1 gene on chromosome 11p15.
Van Maldergem syndrome 1
A Van Malergem syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FAT4 gene on chromosome 4q28.
Van Maldergem syndrome 2
A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that has_material_basis_in homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p21.
congenital myasthenic syndrome 22
An agammaglobulinemia that has_material_basis_in heterozygous mutation in the LRRC8A gene on chromosome 9q34.
agammaglobulinemia 5
A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22.
Klippel-Feil syndrome 1
A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MEOX1 gene on chromosome 17q21.
Klippel-Feil syndrome 2
A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF3 gene on chromosome 12p13.
Klippel-Feil syndrome 3
A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MYO18B gene on chromosome 22q12.
Klippel-Feil syndrome 4
An orofacial cleft that has_material_basis_in variation in an enhancer of the IRF6 gene on chromosome 1q32.
orofacial cleft 6
A hyper IgE syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK8 gene on chromosome 9p24.
hyper IgE recurrent infection syndrome 2
A hyper IgE syndrome that has_material_basis_in homozygous mutation in the ZNF341 gene on chromosome 20q11.
hyper IgE recurrent infection syndrome 3
A hyper IgE syndrome that has_material_basis_in homozygous mutation in the IL6ST gene on chromosome 5q11.
hyper IgE recurrent infection syndrome 4
A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone.
Kleefstra syndrome
A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36.
Kleefstra syndrome 2
A viral infectious disease that has_material_basis_in Coronavirus.
Coronavirus infectious disease
A Coronavirus infection that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2.
2019 Novel Coronavirus (2019-nCoV)
2019-nCoV infection
Wuhan coronavirus infection
Wuhan seafood market pneumonia virus infection
COVID-19
A benign neoplasm that derives_from germ cells.
germ cell benign neoplasm
A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements.
A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 6p21.3.
ankylosing spondylitis 1
A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 9q31-q34.
ankylosing spondylitis 2
A ankylosing spondylitis that has_material_basis_in variation in the HLA-B allele on chromosome 2q36.1-q36.3.
ankylosing spondylitis 3
An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24.
anterior segment dysgenesis 1
An anterior segment dysgenesis that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the FOXE3 gene on chromosome 1p33.
anterior segment dysgenesis 2
An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25.
anterior segment dysgenesis 3
An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25.
anterior segment dysgenesis 4
An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.
anterior segment dysgenesis 5
An anterior segment dysgenesis that has_material_basis_in compound heterozygous mutation in the CYP1B1 gene on chromosome 2p22.
anterior segment dysgenesis 6
An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the PXDN gene on chromosome 2p25.
anterior segment dysgenesis 7
An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the CPAMD8 gene on chromosome 19p13.
anterior segment dysgenesis 8
An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of SLC24A5 on chromosome 15q21.1.
oculocutaneous albinism type VI
A kidney benign neoplasm that is located_in the kidney cortex.
nephroma
A kidney disease that is located_in the kidney cortex.
kidney cortex disease
An immune system organ benign neoplasm that is located_in the lymph nodes.
lymph node benign neoplasm
A lymph node cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
lymph node carcinoma
A sensory system benign neoplasm that is located in the auditory system.
auditory system benign neoplasm
An adrenal cortex disease that is characterized by insufficent production of glucocorticoids.
familial glucocorticoid deficiency
A familial glucocorticoid deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding melanocortin-2 receptor, which is also referred to as adrenocorticotropin receptor, on chromosome 18p11.
glucocorticoid deficiency 1
A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13.3.
peroxisome biogenesis disorder 2B
A peroxisomal biogenesis disorder that is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21.
Deafness-enamel hypoplasia-nail defects syndrome
Heimler syndrome 1
A peroxisomal biogenesis disorder that is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in compound heterozygous mutation in the PEX6 gene on chromosome 6p21.
Heimler syndrome 2
A severe congenital neutropenia that has_material_basis_in heterozygous mutation in the neutrophil elastase gene on chromosome 19p13.
severe congenital neutropenia 1
An adrenal gland disease that is characterized by excessive amounts of sodium released in the urine, along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life.
corticosterone methyloxidase deficiency 1
A syndrome that is characterized by loss of hair on the scalp, absence of eyebrows, eyelashes, and axillary and pubic hair, and mild to severe mental retardation.
alopecia-mental retardation syndrome
An alopecia-mental retardation syndrome that has_material_basis_in homozygous mutation in the AHSG gene on chromosome 3q27.
alopecia-mental retardation syndrome 1
An alopecia-mental retardation syndrome that has_material_basis_in linkage to chromosome 3q26.2-q26.31 locus APMR2.
alopecia-mental retardation syndrome 2
A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow.
precursor B lymphoblastic lymphoma/leukemia
B-lymphoblastic leukemia/lymphoma
A syndrome that is characterized by brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation.
Elsahy-Waters syndrome
A progressive bulbar palsy that is characterized by motor, sensory and cranial neuronopathy and that has_material_basis_in homozygous mutation in the C20ORF54 gene on chromosome 20p13.
riboflavin transporter deficiency neuronopathy
Fazio-Londe disease
A physical disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PLD1 gene on chromosome 3q26.
developmental cardiac valvular defect
A microphthalmia that is characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.
nanophthalmos
A microphthalmia that has_material_basis_in homozygous mutation in the SIX6 gene on chromosome 14q23.
optic disc anomalies with retinal and/or macular dystrophy
A microphthalmia that occurs as part of a syndrome that affects other organs and tissues in the body.
syndromic microphthalmia
isolated microphthalmia
An acute lymphocytic leukemia characterized by too many B-cell lymphoblasts (immature white blood cells) in the bone marrow and blood.
B-cell acute lymphoblastic leukemia
A bone cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm.
A biliary tract benign neoplasm that is located_in the gallbladder.
A tongue cancer that derives_from epithelial cells that cover the surface of the tongue.
A Coronavirus infection that is characterized by severe respiratory illness, including fever, cough, and shortness of breath and that has_material_basis_in MERS-CoV.
Middle East respiratory syndrome
A B-lymphoblastic leukemia/lymphoma that derives_from B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein.
B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2);BCR-ABL1
B-lymphoblastic leukemia/lymphoma with BCR-ABL1
A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein.
B lymphoblastic leukemia/lymphoma with t(v;11q23); MLL rearranged
B-lymphoblastic leukemia/lymphoma KMT2A rearranged
B-lymphoblastic leukemia/lymphoma with t(v;11q23.3);KMT2A rearranged
B-lymphoblastic leukemia/lymphoma MLL rearranged
A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein.
B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1
B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1
A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes.
B-lymphoblastic leukemia/lymphoma with hyperdiploidy
A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain less than 46 chromosomes.
B-lymphoblastic leukemia/lymphoma with hypodiploidy
A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3).
B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) IL3-IGH
B-lymphoblastic leukemia/lymphoma with IL3-IGH
A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1.
B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)
B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3);TCF3-PBX1
B-lymphoblastic leukemia/lymphoma with TCF3-PBX1
A B-lymphoblastic leukemia/lymphoma that has a gene expression profile similar to that of B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1, but lacks that gene fusion.
B lymphoblastic leukemia/lymphoma, BCR-ABL1-like
B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like
A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21.
Intrachromosomal amplification of chromosome 21 (iAMP21)
B-lymphoblastic leukemia/lymphoma with iAMP21
A nephrolithiasis that is characterized by characterized by stones composed of calcium oxalate and that has_material_basis_in compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16.
calcium oxalate nephrolithiasis
A urinary system disease that is characterized by the formation of stony concretions in the bladder or urinary tract.
urolithiasis
An urolithiasis in which the composition of the stones is predominantly urate.
uric acid urolithiasis
A kidney disease that is characterized by formation of renal calcium stones or bone demineralization.
hypophosphatemic nephrolithiasis/osteoporosis
A mixed gonadal dysgenesis that is characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,X/46,XY.
45,X/46,XY mixed gonadal dysgenesis
A skin disease characterized by localized areas of missing skin that resemble ulcers or oopen wounds in new borns and that has_material_basis_in heterozygous mutation in the BMS1 gene on chromosome 10q11.
nonsyndromic aplasia cutis congenita
A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and that has_material_basis_in coinheritance of a variant in the SCN5A gene in combination with a rare connexin-40 genotype.
atrial standstill 1
A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and has_material_basis_in homozygous mutation in the NPPA gene on chromosome 1p36.
atrial standstill 2
An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21.
bone dysplasia-medullary fibrosarcoma syndrome
diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome
diaphyseal medullary stenosis with malignant fibrous histiocytoma
An inherited metabolic disorder that is characterized by a high tolerance for the drug warfarin.
warfarin resistance
An inherited metabolic disorder that is characterized by a low tolerance for the drug warfarin.
warfarin sensitivity
A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles.
spinal muscular atrophy type 0
A posterior polymorphous corneal dystrophy that is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape and that has_material_basis_in heterozygous mutation in the GRHL2 gene on chromosome 8q22.
posterior polymorphous corneal dystrophy 4
A Messmann corneal dystrophy that is characterized by the presence of multitudinous microcysts within the anterior epithelium and that has_material_basis_in heterozygous mutation in the KRT12 gene on chromosome 17q21.
Meesmann corneal dystrophy 1
A Messmann corneal dystrophy that is characterized by fragility of the anterior corneal epithelium and the presence of intraepithelial microcysts and that has_material_basis_in heterozygous mutation in the KRT3 gene on chromosome 12q13.
Meesmann corneal dystrophy 2
A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has_material_basis_in compound heterozygous mutation in the COL11A1 gene on chromosome 1p21.
fibrochondrogenesis 1
A fibrochondrogenesis that has_material_basis_in homozygous or heterozygous mutation in the COL11A2 gene on chromosome 6p21.3.
fibrochondrogenesis 2
A breast carcinoma that is characterized by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1.
luminal breast carcinoma B
A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21.
Stickler syndrome 2
A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.
Stickler syndrome 1
An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene.
otospondylomegaepiphyseal dysplasia, autosomal dominant
A mucolipidosis that has_material_basis_in mutation in the gene encoding the gamma subunit of N-acetylglucosamine-1-phosphotransferase and that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay.
mucolipidosis III gamma
An intestinal pseudo-obstruction that is characterized by congenital hypoplasia or aplasia of the sympathetic innervation of the intestine.
neuronal intestinal dysplasia type A
An intestinal pseudo-obstruction that is affects the parasympathetic submucous plexus.
neuronal intestinal dysplasia type B
An intestinal pseudo-obstruction that has_material_basis_in mutations in the FLNA gene on chromosome Xq28.
X-linked chronic idiopathic intestinal pseudo-obstruction
An intestinal pseudo-obstruction that is inherited as an autosomal dominant trait.
autosomal dominant familial visceral neuropathy
A nail disease that is characterized by underdevelopment of nails.
nonsyndromic congenital nail disorder
A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system.
diffuse midline glioma, H3 K27M-mutant
An aortic disease that is characterized by tearing of the intimal layer of the aorta resulting in separation of the layers of the aortic wall.
aortic dissection
A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the ORAI1 gene on chromosome 12q24.
tubular aggregate myopathy 2
A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with late childhood or adult onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26.
reducing body myopathy 1B
A syndrome that is characterized by cell mosaicism where at least one-quarter of cells have an abnormal number of chromosomes.
mosaic variegated aneuploidy syndrome
A mosaic variegated aneuploidy syndrome that has_material_basis_in homozygous mutation in the TRIP13 gene on chromosome 5p15 that results in no detectable TRIP13 protein.
mosaic variegated aneuploidy syndrome 3
A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.
RAS/mitogen-activated protein kinase syndrome
RASopathy
A RASopathy that is characterized by macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears, pluckable, sparse, thin and slow-growing hair, frequent congenital heart defects, darkly pigmented skin with eczema or ichthyosis, short stature and developmental delay.
Noonan syndrome-like disorder with loose anagen hair
A Noonan-like syndrome with loose anagen hair that has_material_basis_in heterozygous mutation in the SHOC2 gene on chromosome 10q25.
Noonan syndrome-like disorder with loose anagen hair 1
A Noonan syndrome-like disorder with loose anagen hair that has_material_basis_in heterozygous mutation in the PPP1CB gene on chromosome 2p23.
Noonan syndrome-like disorder with loose anagen hair 2
A syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy.
Galloway-Mowat syndrome
A syndrome that is characterized by bilateral choanal atresia, cranio-facial dysmorphism, hearing loss, heart abnormalities, and short stature.
Choanal atresia - deafness - cardiac defects - dysmorphism syndrome
Burn-McKeown syndrome
A syndrome that is characterized by a loss of bone tissue particularly in the hands and feet.
Winchester syndrome
A syndrome that is a congenital midline malformation syndrome that is characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects and that has_material_basis_in mutation in the MID1 gene on chromosome Xp22.
Opitz G/BBB Syndrome
Opitz GBBB syndrome type I
Opitz GBBB syndrome
A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2.
Opitz GBBB syndrome type II
SPECC1L-related hypertelorism syndrome
Teebi hypertelorism syndrome-1
Teebi hypertelorism syndrome 1
An amino acid metabolic disorder characterized by the lack of glutathione production.
glutathione synthetase deficiency
A physical disorder that is characterized by impairment of the development of the lower half of the body.
caudal regression syndrome
A thrombophilia that is characterized by increases the risk of blood clots including deep vein thrombosis and pulmonary embolism and that has_material_basis_in heterozygous mutation in the thrombin gene (F2 gene) on chromosome 11p11.
prothrombin thrombophilia
A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent.
medulloblastoma WNT activated
A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent.
medulloblastoma SHH activated
A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations.
medulloblastoma SHH activated and TP53 mutant
A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations.
Medulloblastoma SHH-Activated TP53-Wildtype
medulloblastoma SHH activated and TP53 wild-type
A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent.
medulloblastoma non-WNT/non-SHH
A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present.
medulloblastoma non-WNT/non-SHH group 3
A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 mutations and chromosome 17 abnormalities that may be present.
medulloblastoma non-WNT/non-SHH group 4
A primary immunodeficiency disease that results from defeciency in the number or function of CD56+CD3− NK cell in peripheral blood.
NK cell deficiency
A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency.
T cell and NK cell immunodeficiency
A Coronavirus infectious disease that is characterized by a patient aged less than 21 years with fever, laboratory evidence of inflammation, and evidence of clinically severe illness requiring hospitalization, with multisystem organ involvement (cardiovascular, dermatologic, gastrointestinal, hematologic, neurologic, renal, or respiratory) who tested positive for SARS-CoV-2 or had exposure to COVID-19.
multisystem inflammatory disorder in children and adolescents
paediatric inflammatory multisystemic syndrome
multisystem inflammatory syndrome in children
A monogenic disease that is the result of a mutation that involves the production of one or more copies of a gene.
gene duplication disease
A syndrome that is characterized by high blood tryptase levels and that has_material_basis_in inherited extra copies of the alpha tryptase gene (TPSAB1), effecting multiple organ systems including skin and connective tissues, the gastrointestinal and cardiovascular systems.
hereditary alpha tryptasemia syndrome
A developmental and epileptic encephalopathy chacterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21.
early infantile epileptic encephalopathy 82
developmental and epileptic encephalopathy 82
A syndrome that is characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate.
infantile liver failure syndrome
An infantile liver failure syndrome that has_material_basis_in homozygous mutation in the LARS gene (LARS1) on chromosome 5q32.
infantile liver failure syndrome 1
A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis.
GNE myopathy
A myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa on chromosome 17p13.
proximal myopathy and ophthalmoplegia
A syndrome that is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy and that has_material_basis_in heterozygous mutation in the ATP6V1B2 gene on chromosome 8p21.
autosomal dominant congenital deafness with onychodystrophy
An osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones.
calvarial doughnut lesions with bone fragility
A Kenny-Caffey syndrome that has_material_basis_in mutation in the gene encoding tubulin-specific chaperone E.
Kenny-Caffey syndrome type 1
A Kenny-Caffey syndrome that has_material_basis_in heterozygous mutation in the FAM111A gene on chromosome 11q12.
Kenny-Caffey syndrome type 2
A syndrome that is characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia.
Kenny-Caffey syndrome
An ectodermal dysplasia that is characterized by neonatal blisters and milia and congenital absence of dermatoglyphics on the hands and feet.
BASAN syndrome
An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the collagen alpha-2(V) gene on chromosome 2q31 and that is characterized by the absence of widened atrophic scars.
Ehlers-Danlos syndrome classic type 2
An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 on chromosome 17q21.
Ehlers-Danlos syndrome arthrochalasia type 1
An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL1A2 gene on chromosome 7q21.
Ehlers-Danlos syndrome arthrochalasia type 2
An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the PRDM5 gene on chromosome 4q27.
brittle cornea syndrome 2
An Ehlers-Danlos syndrome that is characterized by severe problems with heart valves and that has_material_basis_in homozygous or compound heterozygous mutation in the COL1A2 gene on chromosome 7q21.
Ehlers-Danlos syndrome cardiac valvular type
An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21.
Ehlers-Danlos syndrome classic-like 1
An Ehlers-Danlos syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the AEBP1 gene on chromosome 7p13 and that is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations.
Ehlers-Danlos syndrome classic-like 2
An Ehlers-Danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has_material_basis_in mutation in the gene encoding the procollagen protease ADAMTS2 on chromosome 5q35.
Ehlers-Danlos syndrome dermatosparaxis type
An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36.
Ehlers-Danlos syndrome kyphoscoliotic type 1
An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15.
Ehlers-Danlos syndrome kyphoscoliotic type 2
An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14.
Ehlers-Danlos syndrome musculocontractural type 1
An Ehlers-Danlos syndrome that is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay and that has_material_basis_in homozygous mutation in the DSE gene on chromosome 6q22.
Ehlers-Danlos syndrome musculocontractural type 2
An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35.
Ehlers-Danlos syndrome spondylodysplastic type 1
An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the zinc transporter gene SLC39A13 on chromosome 11p11 and that is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features.
Ehlers-Danlos syndrome spondylodysplastic type 3
An endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease.
Libmann–Sachs, Endocarditis in systemic lupus erythematosus
Libman-Sacks endocarditis
An encephalitis that is characterized by subacute onset of short-term memory deficits, seizures or psychiatric symptoms located_in the medial temporal lobes.
limbic encephalitis
An autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera.
autoimmune cholangitis
A myelitis that is characterized by a band-like sensation across the trunk of the body, with sensory changes below.
transverse myelitis
An autoimmune disease that is characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease, and serum autoantibodies to aminoacyl transfer RNA synthetases.
antisynthetase syndrome
A myositis that is characterized by muscle weakness affecting both sides of your body.
polymyositis
A skin disease that is characterized by sudden onset of well defined tender plaques or nodules accompanied by fever, arthralgias, ocular inflammation, headaches and, rarely, oral or genital lesions.
Sweet syndrome
An urticaria that is characterized by the presence of urticaria for a period exceeding 6 weeks, assuming symptoms for most days of the week.
chronic urticaria
A chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours.
chronic inducible urticaria
A chronic urticaria that is characterized by urticaria independent of any exogenous stimulus.
chronic spontaneous urticaria
A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter.
erythema nodosum
An ichthyosis that is characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin.
keratosis pilaris atrophicans
A keratosis pilaris atrophicans that is characterized by scar-like follicular depressions and loss of hair primarily in the eyebrow area.
keratosis pilaris atrophicans faciei
A keratosis pilaris atrophicans that is characterized by scarring alopecia of the scalp, eyebrows, and axillae, sometimes associated with photophobia and keratoderma.
keratosis follicularis spinulosa decalvans
A keratosis follicularis spinulosa decalvans that has_material_basis_in mutation in the MBTPS2 gene.
X-linked keratosis follicularis spinulosa decalvans
A keratosis follicularis spinulosa decalvans that has_material_basis_in autosomal dominant inheritance.
autosomal dominant keratosis follicularis spinulosa decalvans
A keratosis pilaris atrophicans that typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead.
atrophoderma vermiculata
A Fanconi syndrome that has_material_basis_in heterozygous mutation in the GATM gene on chromosome 15q21.
Fanconi renotubular syndrome 1
A Fanconi syndrome that has_material_basis_in homozygous mutation in the SLC34A1 gene on chromosome 5q35.
Fanconi renotubular syndrome 2
A Fanconi syndrome that is characterized by characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria and that has_material_basis_in heterozygous mutation in the EHHADH gene on chromosome 3q27.
Fanconi renotubular syndrome 3
A Fanconi syndrome that has_material_basis_in heterozygous mutation in the HNF4A gene on chromosome 20q13.
Fanconi renotubular syndrome 4
A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has_material_basis_in homozygous mutation in the NDUFAF6 gene on chromosome 8q22.
Fanconi renotubular syndrome 5
An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13.
autosomal recessive limb-girdle muscular dystrophy type 2Z
A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining.
diffuse gastric cancer
A diffuse gastric cancer that is characterized by characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes.
hereditary diffuse gastric cancer
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL5 gene on chromosome 2q31.
autosomal recessive intellectual developmental disorder-72
autosomal recessive mental retardation 72
autosomal recessive intellectual developmental disorder 72
An erythrokeratodermia variabilis that is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces and that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13.
erythrokeratodermia variabilis et progressiva 6
An autoimmune disease of cardiovascular system that is characterized by inflammation of the heart muscle.
autoimmune myocarditis
An epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supplements of pyridoxine.
pyridoxine-dependent epilepsy
An epilepsy that is characterized by onset of seizures in the neonatal period or first months of life, with seizures showing favorable response to treatment with activated vitamin B6 (pyridoxal 5-prime-phosphate; PLP) and/or pyridoxine, and that has_material_basis_in homozygous or compound heterozygous mutation in the PROSC gene (PLPBP) on chromosome 8p11.
early-onset vitamin B6-dependent epilepsy
A beta thalassemia that has_material_basis_in one dominantly inheriteed mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia.
autosomal dominant beta thalassemia
A beta thalassemia that is characterized by severe anemia and enlarged liver and spleen before 2 years of age.
beta-thalassemia major
A beta thalassemia that is characterized by mild to moderate anemia along with slow growth and bone abnormalities appearing in early childhood or later in life.
beta-thalassemia intermedia
A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild.
delta beta-thalassemia
A beta thalassemia that has_material_basis_in one HBB gene mutation without typical thalassemia symptoms, but may have some symptoms of anemia.
thalassemia minor
An androgen insensitivity syndrome that is characterized by complete androgen insensitivity as the body cannot use androgens at all, having the external sex characteristics of females but no uterus.
complete androgen insensitivity syndrome
An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action.
partial androgen insensitivity syndrome
A lung carcinoma that is characterized by the presence of a sarcomatoid component often associated with giant cell differentiation.
lung sarcomatoid carcinoma
A liver disease that is characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, and the presence of increased serum lactate and that has_material_basis_in homozygous or compound heterozygous mutation in the TRMU gene, which is involved in mitochondrial protein translation, on chromosome 22q13.
transient infantile liver failure
A diffuse large B-cell lymphoma that is characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells.
plasmablastic lymphoma
An acute myeloid leukemia that is characterized by a predominant immature erythroid population.
acute erythroid leukemia
An endocrine organ benign neoplasm arising from the exocrine pancreas.
A pancreatic adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.
mucinous pancreas adenocarcinoma
An urinary system disease that is characterized by an infection in any part of the urinary system, including the kidneys, ureters, bladder or urethra.
urinary tract infection
A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13.
Brown-Vialetto-Van Laere syndrome 1
A Brown-Vialetto-Van Laere syndrome that is characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC52A2 gene on chromosome 8q24.
Brown-Vialetto-Van Laere syndrome 2
A proximal symphalangism that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22.
proximal symphalangism 1
A proximal symphalangism that is characterized by absence of the cuboid bone and lack of shortness of the first and fifth metacarpal bones, and the presence of distal interphalangeal joint fusions and flat feet and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11.
proximal symphalangism 2
A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32.
Treacher Collins syndrome 1
A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the POLR1D gene on chromosome 13q12.
Treacher Collins syndrome 2
A Treacher Collins syndrome that has_material_basis_in compound heterozygous mutation in the POLR1C gene on chromosome 6p21.
Treacher Collins syndrome 3
A Treacher Collins syndrome that is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia and that has_material_basis_in heterozygous mutation in the POLR1B gene on chromosome 2q14.
Treacher Collins syndrome 4
An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood.
pediatric non-Down syndrome acute megakaryoblastic leukemia
childhood acute megakaryoblastic leukemia
An acute myeloid leukemia that is characterized by primary differentiation to basophils.
acute basophilic leukemia
An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis.
core binding factor acute myeloid leukemia
A mature T-cell and NK-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells.
nasal type extranodal NK/T-cell lymphoma
An acute megakaryocytic leukemia occurring in children with Down syndrome and that has_material_basis_in mutation in the GATA1 gene.
myeloid leukemia associated with Down Syndrome
A nasal cavity carcinoma that arises from the sinonasal tract and that is characterized by the presence of small to medium size malignant cells.
sinonasal undifferentiated carcinoma
A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found.
salivary gland mucinous adenocarcinoma
A craniometaphyseal dysplasia that has_material_basis_in heterozygous mutation in the ANKH gene on chromosome 5p15.
autosomal dominant craniometaphyseal dysplasia
A craniometaphyseal dysplasia that has_material_basis_in homozygous mutation in the GJA1 gene on chromosome 6q22.
autosomal recessive craniometaphyseal dysplasia
A cranioectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the IFT122 gene on chromosome 3q21.
cranioectodermal dysplasia 1
A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR35 gene on chromosome 2p24.
cranioectodermal dysplasia 2
A cranioectodermal dysplasia that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24.
cranioectodermal dysplasia 3
A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR19 gene on chromosome 4p14.
cranioectodermal dysplasia 4
A craniodiaphyseal dysplasia that has_material_basis_in heterozygous mutation in the SOST gene on chromosome 17q21.
autosomal dominant craniodiaphyseal dysplasia
A salivary gland carcinoma that has_material_basis_in a chromosomal translocation that results in an ETV6-NTRK3 fusion gene.
mammary analogue secretory carcinoma
An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency.
chronic asthma
An asthma that is characterized by severe and sudden onset of increasing wheezing, airways closing, smooth muscle contraction, mucus plugging and lower airway edema that may be reversible upon treatment.
acute asthma
A chronic asthma that is triggered by an allergen and that is characterized by an immune system overreaction to a harmless substance, such as pollen or dust, with the subsequent release of immunoglobin E (IgE) antibodies.
extrinsic asthma
A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity.
intermittent asthma
A chronic asthma that is characterized by severity with symptoms two or more days per week, nighttime awakenings three to four times per month, use of short-acting beta agonist for symptom control two or more days per week and minor limitation of normal activity.
persistent mild asthma
A chronic asthma that is characterized by severity with daily symptoms, nighttime awakenings more than once per week, daily use of short-acting beta agonist for symptom control and some limitation of normal activity.
persistent moderate asthma
A chronic asthma that is characterized by first presentation in early childhood.
childhood-onset asthma
A chronic asthma that is characterized by first presentation in adulthood.
adult-onset severe asthma
A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease.
T2-high asthma
A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils > 40–60%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy.
T2-low asthma
An intrinsic asthma that is characterized by exposure to tobacco smoke and other inflammatory gases or particulate matter.
environmental induced asthma
An environmental induced asthma that is characterized by a variable airflow limitation due to exposure to inhaled irritants in the workplace.
occupational asthma
An intrinsic asthma that is characterized by narrowing of the airways during or shortly after exercise.
exercise-induced bronchoconstriction
An intrinsic asthma that is characertized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs.
aspirin-induced respiratory disease
An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation.
near-fatal asthma
A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control several times per day and extremely limited normal activity.
persistent severe asthma
An allergic asthma that is characterized by acute asthma attacks immediately following a thunderstorm resulting from inhalation of high concentrations of aeroallergens, most commonly grass pollen.
thunderstorm triggered asthma
A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways.
nocturnal asthma
A viral infectious disease that has_material_basis_in Human betaherpesvirus 5.
human cytomegalovirus infection
A syndrome that is characterized by blood clots in veins, recurrent fevers, pulmonary abnormalities and vacuoles in myeloid cells and that has_material_basis_in mutation in the UBA1 gene on chromosome Xp11.
vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome
VEXAS syndrome
A cell type benign neoplasm that has_material_basis_in glial cells (astrocytes, oligodendrocytes or ependymocytes).
A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology.
childhood low-grade glioma
A cognitive disorder that is characterized by the presence of significant and persistent cognitive complaints.
subjective cognitive decline
A cognitive disorder that is characterized by objective impairment in cognition with minimal impairment of their capacity to undertake the instrumental activities of daily living.
mild cognitive impairment
A laryngeal disease that is characterized by inward collapse of flaccid supraglottic structures during inspiration. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back or crying.
laryngomalacia
A laryngeal disease that is characterized by acquired collapse of laryngeal suprastructures.
acquired laryngomalacia
A syndrome that is characterized by congenital infection with toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and other organisms.
TORCH syndrome
A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in homozygous mutation in the STAT5B gene on chromosome 17q21.
growth hormone insensitivity syndrome with immune dysregulation 1
A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in heterozygous mutation in the STAT5B gene on chromosome 17q21.
growth hormone insensitivity syndrome with immune dysregulation 2
An inherited metabolic disorder that is characterized by bleeding complications when given warfarin for anticoagulation and that has_material_basis_in variation in the F9 gene on chromosome Xq27.
X-linked warfarin sensitivity
An optic atrophy that is characterized by slowly progressive visual impairment with onset usually in the first decade and that has_material_basis_in heterozygous mutation in the AFG3L2 gene on chromosome 18p11.
optic atrophy 12
An autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not break easily.
pemphigoid
A meningioma that arises within the cranial cavity.
intracranial meningioma
A meningioma that affects the supratentorial brain.
supratentorial meningioma
An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the GPC6 gene on chromosome 13q32.
omodysplasia 1
An omodysplasia that is characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies and that has_material_basis_in heterozygous mutation in the FZD2 gene on chromosome 17q21.
omodysplasia 2
A type 1 diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable β-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, sharing features with both type 1 and type 2 diabetes mellitus.
latent autoimmune diabetes in adults
A Coronavirus infectious disease that is characterized by long-term persistent and fluctuating symptoms, in individuals with COVID-19, persisting beyond three to four weeks, including the loss of the ability to smell and taste, breathlessness, fatigue, difficulty in breathing, difficulty concentrating, memory loss, confusion, headache, heart palpitations, chest pain, pain with deep breaths, dizziness, and tachycardia.
post-acute sequelae of SARS-CoV-2 infection
long COVID
An eye disease that is characterized by defective or absent horizontal voluntary eye movements, and defective or absent horizontal ocular attraction movements.
ocular motor apraxia, Cogan type
A pemphigus that is characterized by blistering lesions on otherwise healthy-looking skin.
pemphigus foliaceus
A pemphigus that is characterized by painful and pruritic vesiculopustular eruptions. These eruptions form as a result of circulating IgA antibodies against keratinocyte cell surface components responsible for cell to cell adherence.
IgA pemphigus
A pemphigus that is characterised by painful blisters and denuded areas of the mouth, lips, oesophagus and skin.
paraneoplastic pemphigus
A malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields.
anaplastic pleomorphic xanthoastrocytoma
A movement disorder that is characterized by disturbances of balance, gait and posture.
Parkinsonism
A Parkinsonism that is characterized by postural instability, a broad-based gait with the absence of tremors of vascular origin.
vascular Parkinsonism
A primary ovarian insufficiency that has_material_basis_in premutations in the FMR1 gene on chromosome Xq27.3, within a region defined as POF1 (Xq26-q28).
FMR1-related primary ovarian insufficiency
Fragile X-associated primary ovarian insufficiency
primary ovarian insufficiency 1
A primary ovarian insufficiency that has_material_basis_in mutation in the DIAPH2 gene on chromosome Xq22.
primary ovarian insufficiency 2A
A primary ovarian insufficiency that has_material_basis_in mutation in the POF1B gene.
primary ovarian insufficiency 2B
A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the FOXL2 gene on chromosome 3q22.
primary ovarian insufficiency 3
A primary ovarian insufficiency that has_material_basis_in caused by mutation in the BMP15 gene on chromosome Xp11.
primary ovarian insufficiency 4
A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NOBOX gene on chromosome 7q35.
primary ovarian insufficiency 5
A primary ovarian insufficiency that has_material_basis_in heterozygous or homozygous mutation in the FIGLA gene on chromosome 2p13.
primary ovarian insufficiency 6
A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.
primary ovarian insufficiency 7
A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the STAG3 gene on chromosome 7q22.
primary ovarian insufficiency 8
A primary ovarian insufficiency that has_material_basis_in compound heterozygous mutation in the HFM1 gene on chromosome 1p22.
primary ovarian insufficiency 9
A primary ovarian insufficiency that is characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells and that has_material_basis_in homozygous mutation in the MCM8 gene on chromosome 20p.
primary ovarian insufficiency 10
A primary ovarian insufficiency that is characterized by secondary amenorrhea and hypergonadotropic ovarian insufficiency, with elevated serum follicle-stimulating hormone levels before age 40 years and that has_material_basis_in heterozygous mutation in the ERCC6 gene on chromosome 10q11.
primary ovarian insufficiency 11
A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the SYCE1 gene on chromosome 10q26.
primary ovarian insufficiency 12
A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the MSH5 gene on chromosome 6p21.
primary ovarian insufficiency 13
A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the GDF9 gene on chromosome 5q31.
primary ovarian insufficiency 14
A primary ovarian insufficiency that is characterized by onset of oligomenorrhea in the third decade of life, with small ovaries, reduced number of follicles, and elevated gonadotropic hormones and that has_material_basis_in homozygous mutation in the FANCM gene on chromosome 14q21.
primary ovarian insufficiency 15
A primary ovarian insufficiency that is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone levels and low estradiol levels and that has_material_basis_in heterozygous mutation in the BNC1 gene on chromosome 15q25.
primary ovarian insufficiency 16
A primary ovarian insufficiency that is characterized by early cessation of menses after initial menarche, with small ovaries and uterus and that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36.
primary ovarian insufficiency 17
An anaplastic astrocytoma carrying IDH mutations.
IDH-mutant anaplastic astrocytoma
An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes.
IDH-wildtype anaplastic astrocytoma
An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas.
The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas, removed previous name glioblastoma, IDH-mutant.
astrocytoma, IDH-mutant, grade 4
A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes.
IDH-wildtype glioblastoma
A high grade glioma that has_material_basis_in mutations in the genes encoding histones.
histone mutated tumor
A histone mutated tumor that has_material_basis_in mutations in codon 34 of the H3 histone family 3A protein.
diffuse glioma, H3 G34 mutant
An anaplastic pleomorphic xanthoastrocytoma that has_material_basis_in BRAF mutations.
pleomorphic xanthoastrocytoma BRAF mutant
An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion).
Oligodendroglioma, IDH-mutant and 1p/19q-codeleted
anaplastic oligodendroglioma, IDH-mutant and 1p/19q-codeleted
IDH-mutant and 1p/19q-codeleted oligodendroglioma
A bone development disease that is characterized by softening and weakening of the bones, hypocalcemia, high levels of parathyroid hormone and hypophosphatemia.
vitamin D-dependent rickets
A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q.
vitamin D-dependent rickets type 2A
A vitamin D-dependent rickets that is characterized by abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor.
vitamin D-dependent rickets type 2B
A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13.
vitamin D-dependent rickets type 1A
A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the CYP2R1 gene on chromosome 11p15.
vitamin D-dependent rickets type 1B
A spinal cord ependymoma that is characterized by MYCN amplification.
spinal ependymoma, MYCN-amplified
A high grade ependymoma that is located within the posterior fossa.
posterior fossa ependymoma
A high grade ependymoma that is located within the supratentorial brain.
supratentorial ependymoma
A supratentorial ependymoma that has_material_basis_in YAP1-MAMLD1 fusion.
YAP1-MAMLD1 fusion-positive supratentorial ependymoma
A supratentorial ependymoma that has_material_basis_in presence of a RELA fusion gene.
C11orf95 fusion-positive supratentorial ependymoma
Supratentorial C11ORF95-RELA fused ependymoma
RELA fusion-positive ependymoma
A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that has_material_basis_in heterozygous mutation in the ASXL3 gene on chromosome 18q12.
Bainbridge-Ropers syndrome
A connective tissue cancer that has_material_basis_in LMNA-NTRK1 gene fusion.
lipofibromatosis-like neural tumor
A hemangioma that is characterized by complete regression.
rapidly involuting congenital hemangioma
A perivascular tumor that is characterized by a perivascular pattern of spindle-to-ovoid cell proliferation and that has_material_basis_in t(7;12)(p22;q13) translocation with resultant ACTB-GLI1 fusion.
pericytoma with t(7;12)
A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas.
solitary fibrous tumor/hemangiopericytoma
A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32.
cerebellofaciodental syndrome
A pleomorphic carcinoma that is characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells and that is located_in the lung.
lung pleomorphic carcinoma
A rhabdomyosarcoma located in the oral cavity.
oral rhabdomyosarcoma
A sarcomatoid transitional cell carcinoma that is located_in the bladder.
bladder sarcomatoid transitional cell carcinoma
A bladder carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells.
bladder small cell carcinoma
An embryonal tumor with multilayered rosettes that is characterized by the presence of multilayered rosettes formation and the presence of amplification of the C19MC region on chromosome 19 (19q13.42).
embryonal tumor with multilayered rosettes, C19MC-altered
An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q.
CNS high-grade neuroepithelial tumors with MN1 alteration
astroblastoma, MN1-altered
A central nervous system germ cell tumor that is characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation and that arising from the cerebral hemispheres.
central nervous system neuroblastoma
A central nervous system neuroblastoma that is characterized by FOXR2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo.
central nervous system neuroblastoma with FOXR2 activation
CNS neuroblastoma with FOXR2 activation
A Cockayne syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein on chromosome 5q11.
Cockayne syndrome A
A Cockayne syndrome that is characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer, and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 6 excision repair cross-complementing protein on chromosome 10q11.
Cockayne syndrome B
A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production.
castration-resistant prostate carcinoma
A Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis.
cerebrooculofacioskeletal syndrome
A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11.
cerebrooculofacioskeletal syndrome 1
A cerebrooculofacioskeletal syndrome that has_material_basis_in compound heterozygous mutation in the DNA repair gene XPD (ERCC2) on chromosome 19q13.
cerebrooculofacioskeletal syndrome 2
A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous mutation in the ERCC5 gene on chromosome 13q33.
cerebrooculofacioskeletal syndrome 3
A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC1 gene on chromosome 19q13.
cerebrooculofacioskeletal syndrome 4
A histiocytic and dendritic cell cancer that is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes.
histiocytic sarcoma
An acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow.
erythroleukemia
An amyotrophic lateral sclerosis that is characterized by random occurance of ALS without any known cause or familial member with ALS.
sporatic amyotrophic lateral sclerosis
A brain disease that is characterized by malformation of the developing brain characterized by abnormal cortical lamination and an unusual folding pattern of the cerebral cortex such that all or part of the brain surface is taken up by an excessive number of small folds (gyri).
polymicrogyria
A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement.
unilateral focal polymicrogyria
A polymicrogyria that is characterized severe intellectual disability, problems with movement, and seizures and that affects the entire brain.
bilateral generalized polymicrogyria
A polymicrogyria that is characterized as a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability.
bilateral frontal polymicrogyria
A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21.
bilateral frontoparietal polymicrogyria
A polymicrogyria that is characterized by bilateral malformation of cortical development, centered around the parasagittal and mesial aspects of the parietooccipital cortex and that has_material_basis_in homozygous mutation in the FIG4 gene on chromosome 6q21.
bilateral temporooccipital polymicrogyria
bilateral parasagittal parieto-occipital polymicrogyria
A polymicrogyria that is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure and that has_material_basis_in homozygous deletion of one 15-bp tandem repeat in a regulatory region of exon 1m of the ADGRG1 gene on chromosome 16q21.
bilateral perisylvian polymicrogyria
A steroid inherited metabolic disorder that is characterized by combined deficiency of P450C17 and P450C21 and accumulation of steroid metabolites and that has_material_basis_in homozygous or compound heterozygous mutations in the POR gene, which encodes cytochrome p450 oxidoreductase, on chromosome 7q11.2.
cytochrome P450 oxidoreductase deficiency
A chromosomal duplication syndrome that is characterized by motor, speech and language delay, behavior problems, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), facial dysmorphism, seizures, brain abnormalities, and heart defects such as enlargement of the blood vessel that carries blood from the heart to the rest of the body (aortic dilatation) and that has_material_basis_in an extra copy of a region of the long arm of chromosome 7.
William-Beuren region duplication syndrome
7q11.23 duplication syndrome
An amyloidosis that is characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease.
apolipoprotein A-IV associated amyloidosis
An amyloidosis that is characterized by the deposition of amyloid fibrils, principally composed of β2 microglobulins (β2M), in the osteoarticular structures and viscera and that is a serious complication of long-term dialysis therapy.
dialysis-related beta2-microglobulin amyloidosis
dialysis-related amyloidosis
An amyloidosis that is characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.
Autosomal dominant beta2-microglobulinic amyloidosis
variant ABeta2M amyloidosis
A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the gene encoding oncostatin M receptor-beta (OSMR) on chromosome 5p13.
familial primary localized cutaneous amyloidosis-1
primary localized cutaneous amyloidosis 1
A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the IL31RA gene on chromosome 5q11.
primary localized cutaneous amyloidosis 2
A primary cutaneous amyloidosis that is characterized by deposits of keratinocyte-derived amyloid in the skin and that has_material_basis_in homozygous or compound heterozygous mutation in the GPNMB gene on chromosome 7p15. Onset occurs before puberty and involves macular or reticulate hyperpigmentation admixed with symmetrically distributed guttate hypopigmented and hyperpigmented lesions.
primary localized cutaneous amyloidosis 3
An amyloidosis that is characterized by misfolded and aggregated amyloidogenic immunoglobulin light chains produced by marrow clonal plasma cells.
immunoglobulin light chain amyloidosis
An amyloidosis that is characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm.
Amyloidosis derived from immunoglobulin heavy chain
immunoglobulin heavy chain amyloidosis
An amyloidosis that is characterized by both Ig heavy chains and LC contribute to the amyloid fibrils.
immunoglobulin heavy-and-light chain
An amyloidosis that is characterized by sustained high levels of inflammatory serum amyloid A protein when inflammation is present in the body.
serum amyloid A amyloidosis
An amyloidosis that is characterized by progressive instability, misfolding and formation of amloid fibrils of the transthyretin protein.
wild-type transthyretin cardiac amyloidosis
wild-type amyloidosis
A coronary artery disease that is characterized by atherosclerotic plaque that would not be expected to obstruct blood flow or result in anginal symptoms and stenosis of coronary artery less than 50 percent.
nonobstructive coronary artery disease
A hereditrary angioedema that has_material_basis_in heterozygous mutation in the C1 inhibitor gene (C1NH, SERPING1) on chromosome 11q.
hereditary angioedema type I
A hereditary angioedema that is characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction and that has_material_basis_in heterozygous mutation in the gene encoding coagulation factor XII (F12) on chromosome 5q35.
hereditary angioedema type III
An angioedema that is characterized by an acquired deficiency of (C1-INH) caused by either consumption or inactivation.
acquired angioedema
A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation.
anauxetic dysplasia
A 46,XX sex reversal that is characterized by genital virilization in 46,XX individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome and congenital diaphragmatic hernia and that has_material_basis_in heterozygous mutation in the NR2F2 gene on chromosome 15q26.
A primary immunodeficiency disease that is characterized by characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas and that has_material_basis_in heterozygous mutation in the TNFAIP3 gene on chromosome 6q23.
familial Behcet-like autoinflammatory syndrome
An abdominal obesity-metabolic syndrome that is characterized by obesity, hypertension, and early-onset coronary artery disease and that has_material_basis_in heterozygous mutation in the CELA2A gene on chromosome 1p36.
A peroxisomal disease that is characterized by a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism and that has_material_basis_in homozygous mutation in the ACBD5 gene on chromosome 10p12.
A myelitis that is characterized by acute onset of flaccid weakness of one or more limbs.
A syndrome that is characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12.
agenesis of corpus callosum, cardiac, ocular, and genital syndrome
A metabolic acidosis that is characterized by the buildup of ketones in the blood due to alcohol use. Ketones are a type of acid that form when the body breaks down fat for energy.
An alopecia-mental retardation syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22.
An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 18q11.2–q12.2.
A syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature and that has_material_basis_in homozygous or compound heterozygous mutation in the ADH5 gene on chromosome 4q accompanied by a specific homozygous or heterozygous allele in the ALDH2 gene (E504K) on chromosome 12q24. Defects in both of these genes are necessary for the disorder to manifest, consistent with digenic inheritance.
An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ACPT on chromosome 19q13.
A nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth.
arthrogryposis multiplex congenita
A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children.
childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered
A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that has_material_basis_in heterozygous mutation in the ABC1 gene on chromosome 9q31, which is also the site of mutations causing Tangier disease.
primary hypoalphalipoproteinemia 1
A hypolipoproteinemia that is characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol, is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities, and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the APOA1 gene on chromosome 11q23.
primary hypoalphalipoproteinemia 2
An arrhythmogenic right ventricular dysplasia that characterized by palpitations, chest pain, and presyncope and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12.
arrhythmogenic right ventricular dysplasia 14
An amelogenesis imperfecta that is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance and that has_material_basis_in homozygous mutation in the G protein-coupled receptor-68 (GPR68) on chromosome 14q32.
Amelogenesis imperfecta, hypomaturation type, IIA6
A spondyloepimetaphyseal dysplasia that is has_material_basis_in homozygous or compound heterozygous mutation in the POP1 gene on chromosome 8q22.
A spondyloepimetaphyseal dysplasia that is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations and that has_material_basis_in homozygous mutation in the NEPRO gene on chromosome 3q13.
An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 7q11.2.
An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 19q13.
An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 1p36.
An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 5p15.2-p14.3.
An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome Xp22.
An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 9p21.
An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 11q24-q25.
An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 14q23.
An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 2q33.1.
An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8q12.1.
An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8p22.
An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and that has_material_basis_in heterozygous mutation in the THSD1 gene on chromosome 13q14.
An acute myeloid leukemia that is characterized by blasts that harbor BCR-ABL1 translocation in the absence of a history and clinical and laboratory features of chronic myelogenous leukemia.
acute myeloid leukemia with BCR-ABL1
A bicuspid aortic valve disease that is characterized by aortic stenosis and/or bicuspid aortic valve, associated in some patients with aneurysm of the aortic root and/or ascending aorta and that has_material_basis_in heterozygous mutation in the ROBO4 gene on chromosome 11q24.
aortic valve disease 3
An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the LGI4 gene on chromosome 19q13.
arthrogryposis multiplex congenita-1
An arthrogryposis multiplex congenita that is characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SYNE1 gene on chromosome 6q25.
arthrogryposis multiplex congenita-3
An arthrogryposis multiplex congenita that has_material_basis_in homozygous mutation in the SCYL2 gene on chromosome 12q23.
arthrogryposis multiplex congenita-4
An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the TOR1A gene on chromosome 9q34.
arthrogryposis multiplex congenita-5
A syndromic X-linked intellectual disability that is characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women and that has_material_basis_in mutation in the ATRX gene. X-linked mental retardation-hypotonic facies syndrome comprises several syndromes previously reported separately. These include Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes. X-linked alpha-thalassemia/mental retardation syndrome is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes.
X-linked mental retardation-hypotonic facies syndrome-1
A syndromic X-linked intellectual disability characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior and that has_material_basis_in disruption of the FMR2 gene (AFF2), either by expansion of a CCG repeat in the 5-prime untranslated region or by deletion.
X-linked intellectual developmental disorder 109
A syndromic X-linked intellectual disability that is characterized by a tall, marfanoid stature, distinct facial dysmorphism and behavioral problems and that has_material_basis_in hemizygous mutation in the MED12 gene on chromosome Xq13. Opitz-Kaveggia syndrome is an allelic disorder with an overlapping phenotype.
syndromic X-linked intellectual disorder Lujan-Fryns-type
An Ehlers-Danlos syndrome that is characterized by an Ehlers-Danlos syndrome phenotype combined with severe periodontal inflammation and that has_material_basis_in heterozygous mutation in the C1R gene on chromosome 12p13.
Ehlers-Danlos syndrome periodontal type 1
An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the C1S gene on chromosome 12p13.
Ehlers-Danlos syndrome periodontal type 2
An epidermolysis bullosa dystrophica that is characterized by recurrent blistering and scarring, mainly in the pretibial area and that has_material_basis_in heterozygous or compound heterozygous mutation in the type VII collagen gene (COL7A1) on chromosome 3p21. The lesions often show lichenoid features. Pretibial epidermolysis bullosa is allelic to autosomal dominant and recessive dystrophic epidermolysis bullosa.
pretibial dystrophic epidermolysis bullosa
A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome.
King Denborough syndrome
A myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form.
multiminicore disease
A myopathy that is characterized by muscle breakdown (rhabdomyolysis), heat and exertion-related muscle pain (myalgia) and cramping symptoms, severe muscle pain, sudden elevation and subsequent fall of serum creatine phosphokinase levels and products of muscle breakdown in the urine (myoglobinuria). Associated with RYR1 variations. Rhabdomyolysis is associated with a range of external triggers, including strenuous exercise beyond the limit of fatigue, heat stress, illicit drug or alcohol abuse, use of supplements or certain medications, recent viral illness or muscle trauma.
rhabdomyolysis-myalgia syndrome
An epilepsy that is characterized by new-onset refractory seizures along with subacute progressive cognitive decline and behavioral or psychiatric dysfunction.
autoimmune epilepsy
A tuberculosis that is characterized by cerebral edema sometimes with features similar to acute disseminated encephalomyelitis (ADEM) and may manifest with a variety of symptoms ranging from focal neurological deficits to convulsions and decreased conscious state.
tuberculous encephalopathy
A diffuse large B-cell lymphoma that is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes.
diffuse large B-cell lymphoma activated B-cell type
A diffuse large B-cell lymphoma that is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification.
diffuse large B-cell lymphoma germinal center B-cell type
An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.
acute necrotizing pancreatitis
An acute pancreatits that is characterized by acute inflammation of the pancreas in which the initial edematous pancreatitis evolved into necrosis accompanied by hemorrhage.
acute hemorrhagic pancreatitis
A Cowden syndrome that has_material_basis_in heterozygous germline hypermethylation of the KLLN gene on chromosome 10q23.
Cowden syndrome 4
A Cowden syndrome that has_material_basis_in heterozygous mutation in the PIK3CA gene on chromosome 3q26.
Cowden syndrome 5
A Cowden syndrome that has_material_basis_in heterozygous mutation in the AKT1 gene on chromosome 14q32.3.
Cowden syndrome 6
A Cowden syndrome that has_material_basis_in heterozygous mutation in the SEC23B gene on chromosome 20p11.
Cowden syndrome 7
A B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes.
High Grade B-Cell Lymphoma with MYC and BCL2 or BCL6 Rearrangements
high-grade B-cell lymphoma double-hit/triple-hit
A vegetable allergy triggered by parsley (Petroselinum).
parsley allergy
A food allergy triggered by dill (Anethum graveolens).
dill allergy
A leukodystrophy that is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment.
cystic leukoencephalopathy without megalencephaly
infantile-onset RNASET2 deficient cystic leukoencephalopathy
RNASET2-deficient cystic leukoencephalopathy
A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias and that has_material_basis_in homozygous or compound heterozygous mutation in the GNB5 gene on chromosome 15q21.
GNB5-related intellectual disability-cardiac arrhythmia syndrome
intellectual developmental disorder with cardiac arrhythmia
A Bardet-Biedl syndrome that is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females and that has_material_basis_in homozygous mutation in the IFT172 gene on chromosome 2p23.
Bardet-Biedl syndrome 20
A Bardet-Biedl syndrome that is characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment and that has_material_basis_in homozygous mutation in the C8ORF37 gene on chromosome 8q22.
Bardet-Biedl syndrome 21
A Bardet-Biedl syndrome that is retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability has_material_basis_in compound heterozygous or homozygous mutation in the IFT74 gene on chromosome 9p21.
Bardet-Biedl syndrome 22
A COVID-19 that is characterized by the criteria for acute respiratory distress syndrome (ARDS), sepsis, septic shock, or other conditions that would normally require the provision of life sustaining therapies such as mechanical ventilation (invasive or non-invasive) or vasopressor therapy.
critical COVID-19
A COVID-19 that is characterized by any of (1) Oxygen saturation < 90% on room air, (2) Respiratory rate > 30 breaths/min in adults and children > 5 years old, ≥ 60 breaths/min in children < 2 months old, ≥ 50 in children 2–11 months old, and ≥ 40 in children 1–5 years old, or (3) signs of severe respiratory distress (accessory muscle use, inability to complete full sentences, and, in children, very severe chest wall indrawing, grunting, central cyanosis, or presence of any other general danger signs.
severe COVID-19
A COVID-19 that is characterized by the absence of any criteria for severe or critical COVID-19.
non-severe COVID-19
A congenital fibrosis of the extraocular muscles that is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline and that has_material_basis_in heterozygous mutation in the KIF21A gene on chromosome 12q12.
congenital fibrosis of the extraocular muscles 1
A congenital fibrosis of the extraocular muscles that is characterized by bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) and that has_material_basis_in homozygous mutation in the ARIX gene on chromosome 11q13.
congenital fibrosis of the extraocular muscles 2
A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24.
congenital fibrosis of the extraocular muscles 3A
A congenital fibrosis of the extraocular muscles that is characterized by congenital bilateral ptosis and limitation of the superior rectus and that has_material_basis_in a reciprocal translocation t(2;13)(q37.3;q12.11).
congenital fibrosis of the extraocular muscles 3C
A congenital fibrosis of the extraocular muscles that has_material_basis_in homozygous or compound heterozygous mutation in the COL25A1 gene on chromosome 4q25.
congenital fibrosis of the extraocular muscles 5
A congenital fibrosis of the extraocular muscles that is characterized by nonprogressive restrictive ophthalmoplegia with blepharoptosis of the right eye and postaxial oligodactyly/oligosyndactyly of the hands, with the right more severely affected than the left.
congenital fibrosis of the extraocular muscles 4
Tukel syndrome
A cone dystrophy that is characterized by onset in the first or second decade of life of very marked photophobia, myopia, reduced color vision along the red-green axis with relatively preserved tritan discrimination, and central scotomata with peripheral widespread sensitivity loss predominating in the superior visual field and that has_material_basis_in homozygous or compound heterozygous mutation in the KCNV2 gene on chromosome 9p24.
cone dystrophy with supernormal rod responses
retinal cone dystrophy 3B
A cone dystrophy that has_material_basis_in homozygous mutation in the CACNA2D4 gene on chromosome 12p13.
retinal cone dystrophy 4
A cone dystrophy that is characterized as autosomal dominant form of diffuse cone degeneration.
retinal cone dystrophy 1
A cone dystrophy that is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision and that has_material_basis_in mutation in the gene encoding the gamma subunit of cone cGMP-phosphodiesterase (PDE6H0) on chromosome 12p13.
retinal cone dystrophy 3A
A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels.
benign peritoneal solitary fibrous tumor
A breast adenocarcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen.
glycogen-rich carcinoma
A lymphatic system disease that is characterized by dysfunction of the thoracic duct or cisterna chyli, leading to a retrograde flux of lymphatic fluid or abnormal drainage of lymphatic fluid and that has_material_basis_in heterozygous mutation in the EPHB4 gene on chromosome 7q22.
central conducting lymphatic anomaly
A lymphatic system disease that is characterized by abnormal overgrowth of lymphatic vessels with multiple areas in the lungs, pleura, bones and soft tissues leading to lymphatic malformations.
generalized lymphatic anomaly
A glutathione synthetase deficiency that is characterized by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding glutathione synthetase (GSS) on chromosome 20q11. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline.
glutatione synthetase deficiency with 5-oxoprolinuria
An acute biphenotypic leukemia that is characterized by blasts that also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR.
Mixed Phenotype Acute Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
mixed phenotype acute leukemia with BCR-ABL1
An acute biphenotypic leukemia that is characterized by blasts which carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner.
Mixed Phenotype Acute Leukemia with t(v;11q23.3); MLL Rearranged
mixed phenotype acute leukemia with MLL rearranged
An acute biphenotypic leukemia that is characterized by blasts which express B-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation.
mixed phenotype acute leukemia, B/myeloid
An acute biphenotypic leukemia that is characterized by blasts that express antigens of both T and myeloid antigens.
mixed phenotype acute leukemia, T/myeloid
A prolymphocytic leukemia that is characterized by medium-sized, round lymphoid cells with prominent nucleoli exceeding 55% of lymphoid cells in the blood.
B-cell prolymphocytic leukemia
A prolymphocytic leukemia that is characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin.
T-cell prolymphocytic leukemia
A fetal akinesia deformation sequence syndrom that is an X-linked form that is characterized by brain malformations, telecanthus, and narrow palpebral fissures.
fetal akinesia deformation sequence syndrome X-linked
A syndrome that is a cleft in thes nose, a broad nose, wide spaced eyes and a widow's peak.
frontonasal dysplasia
A frontonasal dysplasia that is characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline, and has_material_basis_in homozygous mutation in the aristaless-like homeobox-3 gene (ALX3) on chromosome 1p13.
frontonasal dysplasia 1
A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX4 gene on chromosome 11p11.
frontonasal dysplasia 2
A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX1 gene on chromosome 12q21.
frontonasal dysplasia 3
A syndrome that is characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay and that has_material_basis_in heterozygous mutation in the NALCN gene on chromosome 13q33.
congenital contractures of the limbs and face, hypotonia, and developmental delay
congenital limbs-face contractures-hypotonia-developmental delay syndrome
A mature T-cell and NK-cell lymphoma that is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids and that originates from cytotoxic T-cells, usually of gamma/delta T-cell type.
hepatosplenic T-cell lymphoma
A primary cutaneous T-cell non-Hodgkin lymphoma that is characterised by the clonal cutaneous proliferation of activated mature gamma-delta T cells with a cytotoxic phenotype.
Primary Cutaneous Gamma-Delta T Cell Lymphomas
primary cutaneous gamma-delta T-cell lymphoma
A syndrome that is characterized by intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development, and that has_material_basis_in homozygous mutation in the WDR4 gene on chromosome 21q22.
microcephaly, growth deficiency, seizures, and brain malformations
A fetal alcohol spectrum disorder that is characterized by one or more deficits in neurocognition and in self-regulation plus two or more deficits in adaptive functioning, with at least 1 in communication or social communication and interaction.
neurobehavioral disorder with prenatal alcohol exposure
A diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis.
central diabetes insipidus
A diabetes insipidus that is characterized by progressively rising levels of placental vasopressinase throughout pregnancy, resulting in decreased endogenous vasopressin and resulting hypotonic polyuria worsening through the pregnancy.
transient diabetes insipidus of pregnancy
gestational diabetes insipidus
A diabetes insipidus that is characterized by excessive thirst, polyuria with low urine osmolality, and intact urine concentrating ability.
dipsogenic diabetes insipidus
A central diabetes insipidus that has_material_basis_in X-linked inheritance.
X-linked neurohypophyseal diabetes insipidus
X-linked central diabetes insipidus
A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in a mutation in the gene encoding the vasopressin V2 receptor (AVPR2) on chromosome Xq28.
X-linked nephrogenic diabetes insipidus
A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding the aquaporin-2 water channel (AQP2), which maps to chromosome 12q13.
autosomal nephrogenic diabetes insipidus-2
nephrogenic diabetes insipidus type 2
A syndrome that is characterized by an increased risk of developing pleuropulmonary blastoma, multinodular goiter, ovarian Sertoli-Leydig cell tumors, and/or other types of tumors, and that has_material_basis_in heterozygous mutation in the DICER1 gene on chromosome 14q32. Mutations of the gene encoding the endoribonuclease, Dicer, disrupts the biogenesis and processing of miRNAs with subsequent disruption in control of gene expression.
PPB familial tumor susceptibility syndrome
Pleuro-pulmonary blastoma familial tumor susceptibility
Pleuro-pulmonary blastoma familial tumor susceptibility syndrome
Pleuropulmonary blastoma familial tumor susceptibility syndrome
DICER1 syndrome
A diffuse large B-cell lymphoma that is categorized as BN2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and BN2 DLBCLs often, but do not always, have a translocation involving the BCL6 locus and/or some combination of mutations affecting NOTCH2, TNFAIP3, BCL10 and UBE2A. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting CD70, which can be coding or non-coding.
BN2 diffuse large B-cell lymphoma
A diffuse large B-cell lymphoma that is categorized as EZB with high probability by the LymphGen algorithm. This is based on a combination of genetic features and EZB DLBCLs often, but do not always, have hot spot mutations in EZH2 and/or a BCL2 translocation. This class can be further subdivided into two sub-classes EZB-MYC+ and EZB-MYC- using the double hit gene expression signature (DHITsig). This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting IRF8, which can be coding or non-coding.
EZB diffuse large B-cell lymphoma
A diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common hot spot mutation in MYD88 (L265P) and/or activating mutations in CD79B. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting PIM1 and/or ETV6, which can be coding or non-coding.
MCD diffuse large B-cell lymphoma
A diffuse large B-cell lymphoma that is categorized as N1 with high probability by the LymphGen algorithm. This is based on a combination of genetic features. Although N1 DLBCLs always have an activating mutation affecting NOTCH1, LymphGen can assign cases with this mutation to other classes, depending on the presence of other genetic features.
N1 diffuse large B-cell lymphoma
A diffuse large B-cell lymphoma that is categorized as ST2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and ST2 DLBCLs often, but do not always, have missense or nonsense mutations affecting TET2 and NFKBIA. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting some combination of SGK1, ZFP36L1, SOCS1, HIST1H1E and CD83, which can be coding or non-coding.
ST2 diffuse large B-cell lymphoma
A diffuse large B-cell lymphoma that is characterized by aneuploidy with TP53 inactivation.
A53 diffuse large B-cell lymphoma
An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations.
EZB-MYC+ diffuse large B-cell lymphoma
An EZB diffuse large B-cell lymphoma that does not express the double hit gene expression signature (DHITsig-) according to gene expression profiling. These cases tend to have few MYC translocations or DDX3X mutations.
EZB-MYC- diffuse large B-cell lymphoma
A syndrome that is characterized by abnormal development of the brain and structures in the face and torso including facial dysmorphism, intellectual deficit costovertebral abnormalitie, and delayed development of speech and movement (motor) skills.
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
A syndrome characterized by hypertelorism, prominent forehead, thick eyebrows, and short nose with broad and depressed features.
Brachycephalofrontonasal dysplasia
disease_ontology
Teebi hypertelorism syndrome
A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the CDH11 gene on chromosome 16q21.
Teebi hypertelorism syndrome 2
A syndrome that is characterized by a lowered ability to sense pain, to experience temperature, and to sweat and that has_material_basis_in heterozygous mutation in the ZFHX2 gene on chromosome 14q11.
Marsili syndrome
An acute leukemia that is derived from the precursors of plasmacytoid dendritic cells, with a high frequency of cutaneous and bone marrow involvement and leukemic dissemination. Skin lesions appearing on the arms, legs, face and neck are the most common BPDCN symptom. Other symptoms include low counts of healthy blood cells and swollen lymph nodes.
Agranular CD4+ CD56+ Hematodermic Neoplasm/Tumor
Agranular CD4+ Natural Killer Cell Leukemia
Blastic Natural Killer Leukemia/Lymphoma
natural killer (NK) cell leukemia/lymphoma
blastic plasmacytoid dendritic cell neoplasm
An ectodermal dysplasia syndrome that is characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency.
Anhidrotic ectodermal dysplasia with immune deficiency
Ectodermal dysplasia, hypohidrotic, with immune deficiency
ectodermal dysplasia and immune deficiency
An ectodermal dysplasia and immunodeficiency that is characterized by onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life and that has_material_basis_in hemizygous mutation in the IKK-gamma gene (IKBKG) on chromosome Xq28.
ectodermal dysplasia and immunodeficiency 1
An ectodermal dysplasia and immunodeficiency that is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity and that has_material_basis_in heterozygous mutation in the NFKBIA gene on chromosome 14q13.
ectodermal dysplasia and immunodeficiency 2
An acute myeloid leukemia associated with t(6;9)(p23;q34), resulting in DEK-NUP214(CAN) fusion protein expression. It is often associated with multilineage dysplasia and basophilia.
Acute Myeloid Leukemia with t(6;9) (p23;q34.1); DEK-NUP214
acute myeloid leukemia with t(6;9)(p23;q34)
acute myeloid leukemia with t(6;9) (p23;q34.1)
An acute promyelocytic leukemia that is characterized by a severe coagulopathy and the t(15;17)(q24;q21), generating a PML-RARA fusion gene, and where abnormal promyelocytes predominate.
acute promyelocytic leukemia, t(15;17)(q22;q11-12)
acute promyelocytic leukemia with PML-RARA
An acute myeloid leukemia that is characterized by the proliferation of both neutrophil and monocyte precursors.
acute myelomonocytic leukemia
An acute myeloid leukemia associated with inv(3)(q21q26.2) or t(3;3)(q21;q26.2), resulting in the expression of RPN1-EVI1 fusion protein and the reposition of a distal GATA2 enhancer to activate MECOM expression.
Acute Myeloid Leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2); GATA2, MECOM
Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2); RPN1-EVI1
acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2)
An acute myeloid leukemia that is characterized by the presence of abnormal bone marrow eosinophils and the characteristic cytogenetic abnormality inv(16)(p13.1q22) or t(16;16)(p13.1;q22), which results in the expression of the fusion protein CBFB-MYH11.
Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11
acute myeloid leukemia with abnormal marrow eosinophils
acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)
An acute myeloid leukemia in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry.
Acute myeloid leukemia, minimal differentiation
acute myeloid leukemia with minimal differentiation
An acute myeloid leukemia that is characterized by blasts without evidence of significant maturation in the neutrophilic lineage.
acute myeloid leukemia without maturation
An acute myeloid leukemia characterized by blasts with evidence of significant maturation in the neutrophilic lineage.
acute myeloid leukemia with maturation
A chronic myeloid leukemia that is characterized by an abnormally high number of neutrophils and the expression of the BCR-ABL1 fusion gene.
Chronic myelogenous leukemia, BCR/ABL positive
chronic myelogenous leukemia, BCR-ABL1 positive
An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features.
acute myeloid leukemia with mutated NPM1
An acute myeloid leukemia with double mutations of the CEBPA gene.
acute myeloid leukemia with biallelic mutation of CEBPA
An acute myeloid leukemia that is characterized by de novo RUNX1 gene mutation, not associated with myelodysplastic syndrome-related cytogenetic abnormalities.
acute myeloid leukemia with mutated RUNX1
An acute myeloid leukemia with at least 20% blasts in the bone marrow or blood and one of the following: a previous history of myelodysplastic syndrome; multilineage dysplasia; or myelodysplastic syndrome-related cytogenetic abnormalities.
acute myeloid leukemia with myelodysplasia-related changes
An acute myeloid leukemia associated with t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion protein expression. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules.
Acute Myeloid Leukemia with t(8;21); (q22; q22.1); RUNX1-RUNX1T1
acute myeloid leukemia, t(8;21)(q22;q22)
acute myeloid leukemia with t(8;21); (q22; q22.1)
An acute myeloid leukemia characterized by rearrangement of the MLL (mixed-lineage leukemia) gene.
Acute Myeloid Leukemia with KMT2A/MLL Rearrangement
acute myeloid leukemia, 11q23 abnormalities
acute myeloid leukemia with MLL rearrangement
An acute myeloid leukemia with non-germline mutations of the CEBPA gene.
acute myeloid leukemia with mutated CEBPA
An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein.
Acute Myeloid Leukemia (Megakaryoblastic) with t(1;22)(p13.3;q13.1); RBM15-MKL1
acute myeloid leukemia with t(1;22)(p13;q13)
An autosomal recessive intellectual developmental disorder that is characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia and that has_material_basis_in homozygous mutation in the MAN1B1 gene on chromosome 9q34.
Rafiq syndrome
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRAPPC9 gene on chromosome 8q24.
autosomal recessive intellectual developmental disorder 13
An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with delayed walking, impaired intellectual development, and speech delay apparent from infancy or early childhood and that has_material_basis_in homozygous mutation in the ADAT3 gene on chromosome 19p13.
autosomal recessive mental retardation 36
neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies
A hereditary spastic paraplegia that is characterized spastic paraplegia, tremor, cataracts, deafness, short stature, and hypogonadism presenting in the end of the first decade of life.
spastic paraplegia with deafness
A hyperthyroidism that is characterized by passive transfer of maternal autoantibodies and that has_material_basis_in heterozygous mutation in the thyroid-stimulating hormone receptor gene (TSHR) on chromosome 14q31.
Congenital nonautoimmune hyperthyroidism
nonautoimmune hyperthyroidism
A hyperthyroidism that is characterized by promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin and that has_material_basis_in heterozygous mutation in the gene encoding the thyroid-stimulating hormone receptor (TSHR) on chromosome 14q31.
familial gestational hyperthyroidism
A reflex epilepsy that is characterized by seizures triggered by the stimulus of bathing with hot water poured over the head.
hot water epilepsy
A palmoplantar keratosis that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm.
keratosis palmoplantaris striata
A hot water epilepsy that has_material_basis_in a susceptibility locus for hot water epilepsy (HWE1) mapped to chromosome 10q21.3-q22.3.
A hot water epilepsy that has_material_basis_in linkage to chromosome 4q24-q28.
A keratosis palmoplantaris striata that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm and that has_material_basis_in heterozygous mutation in the DSG1 gene on chromosome 18q12.
A keratosis palmoplantaris striata that is characterized by linear hyperkeratosis of the palms, which is particularly evident in affected individuals who perform manual labor and that has_material_basis_in heterozygous mutation in the DSP gene on chromosome 6p24.
A keratosis palmoplantaris striata that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13.
A metaphyseal dysplasia that is characterized by distinctive radiographic changes, including osteosclerosis localized predominantly to the metaphyses of the long bones and that has_material_basis_in homozygous mutation in the LRRK1 gene on chromosome 15q26.
A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome.
A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25.
A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in the BFIS1 locus mapped to chromosome 19q.
A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the PRRT2 gene on chromosome 16p11.
A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutations in the SCN2A gene on chromosome 2q24.
benign familial neonatal-infantile seizures
A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in an association on chromosome 1p36.12-p35.1.
A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the SCN8A gene on chromosome 12q13.
A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the CHRNA2 gene on chromosome 8p21.
An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes.
An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that is characterized by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging and that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22.
inclusion body myopathy and brain white matter abnormalities
A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32.
Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome
A syndromic X-linked intellectual disability that is characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness, severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death.
mental retardation with optic atrophy, deafness and seizures
X-linked mental retardation Gustavson type
A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by cranial involvement with macrocrania at birth, brachycephaly, anomalies of middle fossa structures including hypoplasia of corpus callosum, enlargement of septum pellucidum, and dilated lateral ventricles, as well as cortical atrophy and hypodensity of the gray matter and that has_material_basis_in homozygous mutation in the TMCO1 gene on chromosome 1q24.
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1
A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by flat face, low-set ears, and cleft lip and palate, as well as costovertebral anomalies including bifid and fused ribs, vertebral segmentation defects, and scoliosis. Intellectual delay can be severe, with absent speech and that has_material_basis_in homozygous mutation in the RAB5IF gene on chromosome 20q11.
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2
A syndrome that is characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes and that has_material_basis_in heterozygous mutation in the WAC gene on chromosome 10p11 or deletion at chromosome 10p12-p11.
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
DeSanto-Shinawi syndrome
A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body.
mandibuloacral dysplasia
A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk.
mandibuloacral dysplasia type A lipodystrophy
A mandibuloacral dysplasia that has_material_basis_in compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34 and that is characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities.
mandibuloacral dysplasia type B lipodystrophy
A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the QDPR gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 4p15.
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia due to dihydropteridine reductase deficiency
BH4-deficient hyperphenylalaninemia C
A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by mild transient hyperphenylalaninemia often detected by newborn screening and that has_material_basis_in homozygous or compound heterozygous mutation in the PCBD gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 10q22.
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency
BH4-deficient hyperphenylalaninemia D
An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4.
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia
A 3-methylglutaconic aciduria that is characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with variable neurologic deficits and neutropenia and that has_material_basis_in heterozygous dominant-negative mutation in the CLPB gene on chromosome 11q13.
3-methylglutaconic aciduria type 7a
A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous loss-of-function mutations in the CLPB gene on chromosome 11q13.
3-methylglutaconic aciduria type 7b
An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the immunoglobulin lambda-like-1 gene (IGLL1) on chromosome 22q11.
agammaglobulinemia 2
An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the mu heavy-chain gene (IGHM) on chromosome 14q32.
agammaglobulinemia 1
An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79A gene on chromosome 19q13.2.
agammaglobulinemia 3
An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79B gene on chromosome 17q23.
agammaglobulinemia 6
An agammaglobulinemia that has_material_basis_in homozygous mutation in the PIK3R1 gene on chromosome 5q13.
agammaglobulinemia 7
An agammaglobulinemia that has_material_basis_in heterozygous dominant-negative mutation in the TCF3 gene on chromosome 19p13.
agammaglobulinemia 8A
An agammaglobulinemia that is characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC39A7 gene on chromosome 6p21.
agammaglobulinemia 9
An agammaglobulinemia that is characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. and that has_material_basis_in heterozygous mutation in the SPI1 gene on chromosome 11p11.
agammaglobulinemia 10
An agammaglobulinemia that is characterized by onset of recurrent infections in early childhood and that has_material_basis_in homozygous loss-of-function mutation in the TCF3 gene on chromosome 19p13.
agammaglobulinemia 8B
A common variable immunodeficiency that has_material_basis_in homozygous mutation in the ICOS gene on chromosome 2q33.
common variable immunodeficiency 1
A common variable immunodeficiency that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TNFRSF13B gene, which encodes the transmembrane activator and CAML interactor (TACI), on chromosome 17p11.2.
common variable immunodeficiency 2
A common variable immunodeficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CD19 gene on chromosome 16p11.2.
common variable immunodeficiency 3
A common variable immunodeficiency that has_material_basis_in homozygous mutation in the BAFFR gene (TNFRSF13C), which encodes the B-cell activating factor receptor, on chromosome 22q13.
common variable immunodeficiency 4
A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD20 gene (MS4A1) on chromosome 11q13.
common variable immunodeficiency 5
A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD81 gene on chromosome 11p.
common variable immunodeficiency 6
A common variable immunodeficiency that has_material_basis_in compound heterozygous mutation in the CD21 gene (CR2) on chromosome 1q32.
common variable immunodeficiency 7
A common variable immunodeficiency that has_material_basis_in homozygous mutation in the LRBA gene on chromosome 4q31.
common variable immunodeficiency-8 (CVID8) with autoimmunity
common variable immunodeficiency 8
A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the NFKB2 gene on chromosome 10q24.
common variable immunodeficiency 10
A common variable immunodeficiency that has_material_basis_in homozygous mutation in the IL21 gene on chromosome 4q27.
common variable immunodeficiency 11
A common variable immunodeficiency that is characterized by recurrent infections and associated with hypogammaglobulinemia and that has_material_basis_in heterozygous mutation in the NFKB1 gene on chromosome 4q24.
common variable immunodeficiency 12
A common variable immunodeficiency that is characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells and that has_material_basis_in heterozygous mutation in the IKZF1 gene on chromosome 7p12.
common variable immunodeficiency 13
A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the IRF2BP2 gene on chromosome 1q42.
common variable immunodeficiency 14
A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the PRDM16 gene on chromosome 1p36.
dilated cardiomyopathy 1LL
A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the MYBPC3 gene on chromosome 11p11.
dilated cardiomyopathy 1MM
A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has_material_basis_in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34.
dilated cardiomyopathy 2C
A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13.
dilated cardiomyopathy 2D
A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13.
dilated cardiomyopathy 2E
A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has_material_basis_in homozygous mutation in the BAG5 gene on chromosome 14q32.
dilated cardiomyopathy 2F
A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31.
dilated cardiomyopathy 2G
A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21.
dilated cardiomyopathy 3B
An amino acid metabolic disorder that is characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma and that has_material_basis_in mutation in the HMGCS2 gene on chromosome 1p12.
3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency
HMG-CoA synthase 2 deficiency
A Leber congenital amaurosis that has_material_basis_in mutation in the USP45 gene on chromosome 6q16.
Leber congenital amaurosis 19
A syndrome that is characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment and that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC2 gene on chromosome 9q34.
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
A syndrome that is characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia and that has_material_basis_in heterozygous mutation in the EBF3 gene on chromosome 10q26.
hypotonia, ataxia, and delayed development syndrome
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding neurotrypsin (PRSS12) on chromosome 4q25.
autosomal recessive intellectual developmental disorder 1
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding cereblon (CRBN) on chromosome 3p26.
autosomal recessive intellectual developmental disorder 2
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CC2D1A gene on chromosome 19p13.
autosomal recessive intellectual developmental disorder 3
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ST3GAL3 gene on chromosome 1p34.
autosomal recessive intellectual developmental disorder 12
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NSUN2 gene on chromosome 5p15.
autosomal recessive intellectual developmental disorder 5
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ionotropic glutamate receptor-6 gene (GRIK2) on chromosome 6q16.
autosomal recessive intellectual developmental disorder 6
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TUSC3 gene on chromosome 8p22.
autosomal recessive intellectual developmental disorder 7
An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 9.1-Mb region on proximal chromosome 14q between SNPs rs10132585 and rs1278951, termed the MRT9 locus.
autosomal recessive intellectual developmental disorder 9/26
An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 21.7-Mb region in the pericentromeric region of chromosome 16 between SNPs rs7197568 and rs7197227, termed the MRT20 locus.
autosomal recessive intellectual developmental disorder 10/20
An autosomal recessive intellectual developmental disorder that has_material_basis_in a candidate locus on chromosome 19q, termed MRT11. Haplotype analysis delineated a 5.4-Mb candidate region between SNPs rs2109075 and rs8101149.
autosomal recessive intellectual developmental disorder 11
An autosomal recessive intellectual developmental disorder that has_material_basis_in a candidate locus, termed MRT4, on chromosome 1p21.1-p13.3.
autosomal recessive intellectual developmental disorder 4
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TECR gene on chromosome 19p13.
autosomal recessive intellectual developmental disorder 14
An autosomal recessive intellectual developmental disorder that has_material_basis_in a 23.52-Mb region of homozygosity on chromosome 9p23-p13.3 between rs10738277 and rs12376565, designated MRT16.
autosomal recessive intellectual developmental disorder 16
An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development with or without epilepsy and that has_material_basis_in homozygous or compound heterozygous mutation in the MED23 gene on chromosome 6q23.
autosomal recessive intellectual developmental disorder 18
An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 10.5-Mb region on proximal chromosome 4q between SNPs rs11944876 and rs6551838.
autosomal recessive intellectual developmental disorder 31
An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a locus on distal chromosome 4q. The interval spanned 52.2 Mb between SNPs rs1426138 and rs2055392.
autosomal recessive intellectual developmental disorder 29
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LINS gene (LINS1) on chromosome 15q26.
autosomal recessive intellectual developmental disorder 27
An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to chromosome 17p in an interval spanning 5.1 Mb between SNPs rs1367950 and rs1826925.
autosomal recessive intellectual developmental disorder 33
An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 22-Mb region on proximal chromosome 6q between SNPs rs4612125 and rs285651.
autosomal recessive intellectual developmental disorder 30
An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 45.6-Mb interval in the pericentromeric region of chromosome 11 between SNPs rs604518 and rs10899421.
autosomal recessive intellectual developmental disorder 23
An autosomal recessive intellectual developmental disorder that has_material_basis_in inkage to a 16.4-Mb region on chromosome 6p between SNPs rs651733 and rs1508668.
autosomal recessive intellectual developmental disorder 24
An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 19.5-Mb region on chromosome 12q between SNPs rs4760658 and rs1882033.
autosomal recessive intellectual developmental disorder 25
An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 4.4-Mb region on chromosome 6q between SNPs rs6935718 and rs388609.
autosomal recessive intellectual developmental disorder 28
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the CRADD gene on chromosome 12q22.
autosomal recessive intellectual developmental disorder 34
An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 12.2-Mb region on chromosome 17q21.31-q22 between SNPs rs4792947 and rs11079258.
autosomal recessive intellectual developmental disorder 35
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ANK3 gene on chromosome 10q21.
autosomal recessive intellectual developmental disorder 37
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HERC2 gene on chromosome 15q13.
autosomal recessive intellectual developmental disorder 38
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TTI2 gene on chromosome 8p12.
autosomal recessive intellectual developmental disorder 39
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF2 gene on chromosome 8q24.
autosomal recessive intellectual developmental disorder 40
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13.
autosomal recessive intellectual developmental disorder 41
An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development, poor language skills, short stature, and dysmorphic features and that has_material_basis_in homozygous mutation in the KIAA1033 gene (WASHC4) on chromosome 12q23. Some patients may have significant motor delays.
autosomal recessive intellectual developmental disorder 43
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL23 gene on chromosome 17q25.
autosomal recessive intellectual developmental disorder 44
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FBXO31 gene on chromosome 16q24.
autosomal recessive intellectual developmental disorder 45
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NDST1 gene on chromosome 5q33.
autosomal recessive intellectual developmental disorder 46
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FMN2 gene on chromosome 1q43.
autosomal recessive intellectual developmental disorder 47
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the SLC6A17 gene on chromosome 1p13.
autosomal recessive intellectual developmental disorder 48
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the EDC3 gene on chromosome 15q24.
autosomal recessive intellectual developmental disorder 50
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HNMT gene on chromosome 2q22.
autosomal recessive intellectual developmental disorder 51
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LMAN2L gene on chromosome 2q11.
autosomal recessive intellectual developmental disorder 52
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TNIK gene on chromosome 3q26.
autosomal recessive intellectual developmental disorder 54
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ZC3H14 gene on chromosome 14q31.
autosomal recessive intellectual developmental disorder 56
An autosomal recessive intellectual developmental disorder that is characterized by intellectual impairment, macrocephaly, and dysmorphic features and that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13. Epilepsy with eyelid myoclonus has also been reported.
autosomal recessive intellectual developmental disorder 74
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the MBOAT7 gene on chromosome 19q13.
autosomal recessive intellectual developmental disorder 57
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the ELP2 gene on chromosome 18q12.
autosomal recessive intellectual developmental disorder 58
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the IMPA1 gene on chromosome 8q21.
autosomal recessive intellectual developmental disorder 59
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF13 gene on chromosome 1p13.
autosomal recessive intellectual developmental disorder 60
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PIGC gene on chromosome 1q23.
Intellectual developmental disorder, autosomal recessive 62
glycosylphosphatidylinositol biosynthesis defect 16
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CAMK2A gene on chromosome 5q32.
autosomal recessive intellectual developmental disorder 63
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LINGO1 gene on chromosome 15q24.
autosomal recessive intellectual developmental disorder 64
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KDM5B gene on chromosome 1q32.
autosomal recessive intellectual developmental disorder 65
An autosomal recessive intellectual developmental disorder that is characterized by delayed speech development, neuropsychiatric symptoms, and relatively normal life span and that has_material_basis_in homozygous mutation in the C12ORF4 gene on chromosome 12p13.
autosomal recessive intellectual developmental disorder 66
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation or compound heterozygous mutation in the EIF3F gene on chromosome 11p15.
autosomal recessive intellectual developmental disorder 67
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRMT1 gene on chromosome 19p13.
autosomal recessive intellectual developmental disorder 68
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ZBTB11 gene on chromosome 3q12.
autosomal recessive intellectual developmental disorder 69
An autosomal recessive intellectual developmental disorder that is characterized primarily by impaired intellectual developmen and that has_material_basis_in homozygous mutation in the RSRC1 gene on chromosome 3q25.
autosomal recessive intellectual developmental disorder 70
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ALKBH8 gene on chromosome 11q22.
autosomal recessive intellectual developmental disorder 71
An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features and that has_material_basis_in homozygous mutation in the NAA20 gene on chromosome 20p11.
autosomal recessive intellectual developmental disorder 73
An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay apparent from infancy or early childhood and moderate to profoundly impaired intellectual development and that has_material_basis_in homozygous mutation in the PIDD1 gene on chromosome 11p15.
autosomal recessive intellectual developmental disorder 75
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the GRIA1 gene on chromosome 5q33.
autosomal recessive intellectual developmental disorder 76
An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with variably impaired cognitive development apparent from infancy and that has_material_basis_in homozygous mutation in the CEP104 gene on chromosome 1p36.
autosomal recessive intellectual developmental disorder 77
An acromesomelic dysplasia that has_material_basis_in homozygous mutation in the BMPR1B gene on chromosome 4q22.
acromesomelic dysplasia-3
An acromesomelic dysplasia that is characterized by disproportionate short stature due to mesomelic shortening of the limbs and that has_material_basis_in homozygous mutation in the PRKG2 gene on chromosome 4q21.
acromesomelic dysplasia-4
An anthrax disease that is characterized by infection at the injection site or deep under the skin or in the muscle where the drug was injected and is caused by heroin contaminated with anthrax spores.
injection anthrax
A peroxisome biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21.
peroxisome biogenesis disorder 1B
A peroxisome biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17.
peroxisome biogenesis disorder 3B
A syndrome that is characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease and that has_material_basis_in heterozygous mutation in the COPA gene on chromosome 1q23.
Autoimmune interstitial lung disease-arthritis syndrome
autoimmune interstitial lung, joint, and kidney disease
A rhizomelic chondrodysplasia punctate that has_material_basis_in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency.
rhizomelic chondrodysplasia punctate type 4
A pituitary cancer that is characterized by features of Cushing disease, with elevated blood ACTH levels and hypercortisolism arising within the fetal anterior pituitary and associated with DICER1 mutations.
pituitary blastoma
A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina.
Previously known as spinal paragangliomas.
cauda equina neuroendocrine tumor
A teratoma that is characterized by morphologic transformation to malignancy and an aggressive clinical course.
teratoma with somatic-type malignancy
A chondrosarcoma that is an aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component.
dedifferentiated chondrosarcoma
An endocrine organ benign neoplasm arising from the pineal gland that is composed of small, uniform, mature cells resembling pineocytes with occasional large pineocytomatous rosettes. It may show a wide range of divergent phenotypes, including neuronal, glial, melanocytic, photoreceptor and mesenchymal differentiation.
pineocytoma
A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm.
EWSR1-Negative Small Blue Round Cell Tumor
EWSR1-negative small round cell tumor
An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions.
Capicua transcriptional repressor (CIC)-rearranged sarcoma
CIC-rearranged sarcoma
A pineal gland cancer that is characterized by the presence of neuroepithelial cells and a papillary architecture.
papillary tumor of the pineal region
A suptratentorial ependymoma that is characterized by the presence of a fusion gene involving ZFTA gene.
supratentorial ependymoma, ZFTA fusion–positive
A supratentorial ependymoma that is characterized by the presence of a fusion gene involving YAP1 gene.
supratentorial ependymoma, YAP1 fusion–positive
A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression.
Posterior Fossa Ependymoma, Group A (PFA)
Posterior fossa group A (PFA) ependymoma
posterior fossa group A ependymoma
A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression.
Posterior Fossa Ependymoma, Group B (PFB)
Posterior fossa group B (PFB) ependymoma
posterior fossa group B ependymoma
An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system.
astrocytoma, IDH-mutant, grade 2
An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features.
astrocytoma, IDH-mutant, grade 3
A ganglioglioma occurring predominantly in the cerebral hemispheres of infants, that are driven by MAPK pathway activation and composed of a mixed astrocytic and neuronal component (DIG) or an astrocytic component only (DIA) embedded in an extensive desmoplastic stroma, often containing foci of undifferentiated embryonal-like tumour cells.
desmoplastic infantile ganglioglioma and desmoplastic infantile astrocytoma
WHO combines desmophlastic infantile ganglioglioma and desmoplastic infantile astrocytoma.
desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma
A low grade glioma that is characterized by a gene alteration that results in a MAPK pathway abnormality, with morphological features of astrocytoma or oligodendroglioma.
diffuse low-grade glioma, MAPK pathway–altered
A low grade glioma that is characterized by an angiocentric pattern, monomorphic cellular infiltrate, and ependymal differentiation.
angiocentric glioma
An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features, and that has_material_basis_in heterozygous mutation in the TNPO2 gene on chromosome 19p13.
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, microcephaly, cataracts, and renal abnormalities and that has_material_basis_in homozygous mutation of the GEMIN4 gene on chromosome 17p13.
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
A syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that has_material_basis_in homozygous ultra-rare REV3L variant (T2753R).
developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome
An autosomal recessive intellectual developmental disorder that is characterized by abnormal behavior, microcephaly, and short stature and that has_material_basis_in homozygous mutation in the PUS7 gene on chromosome 7q22.
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
A lissencephaly that is characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP2 gene on chromosome 10q26.
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32.
graft-versus-host disease
A pulmonary venoocclusive disease that has_material_basis_in heterozygous mutation in the BMPR2 gene on chromosome 2q33.
pulmonary venoocclusive disease 1
A pulmonary venoocclusive disease that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2AK4 gene on chromosome 15q15 and that is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation.
FAMILIAL PULMONARY CAPILLARY HEMANGIOMATOSIS
pulmonary venoocclusive disease 2
A Smith-McCort dysplasia that is characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene (607461) on chromosome 18q21.
Smith-McCort dysplasia 1
A Smith-McCort dysplasia that is characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening and that has_material_basis_in homozygous or compound heterozygous mutation in the RAB33B gene on chromosome 4q31.
Smith-McCort dysplasia 2
A syndrome that is characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis and that has_material_basis_in homozygous mutation in the NUP188 gene on chromosome 9q34.
Sandestig-Stefanova syndrome
A lipid storage disease that is characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index and that has_material_basis_in homozygous or compound heterozygous mutation in the FITM2 gene on chromosome 20q13.
Siddiqi syndrome
A peroxisome biogenesis disorder that is characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy and that has_material_basis_in homozygous mutation in the PEX11B gene on chromosome 1q21.
peroxisome biogenesis disorder 14B
An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy and that has_material_basis_in heterozygous mutation in the FRMD5 gene on chromosome 15q15. Affected individuals show delayed walking with an unsteady gait, variably impaired intellectual development, learning disabilities, and speech difficulties.
neurodevelopmental disorder with eye movement abnormalities and ataxia
A syndrome that is characterized by cerebellar atrophy, visual impairment and psychomotor retardation.
cerebellar atrophy, visual impairment, and psychomotor retardation
A high grade glioma that is characterized by the absence of histone H3, IDH1, and IDH2 mutations.
diffuse paediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood.
infant-type hemispheric glioma
A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1.
diffuse astrocytoma, MYB- or MYBL1-altered
A posterior pituitary gland neoplasm that is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements.
pituicytoma
An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as a well differentiated tumor lacking anaplastic features (brisk mitotic activity, microvascular proliferation, necrosis).
oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2
An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as grade 3 tumors associated with a more rapid growth. Grade 3 tumors appear to have abnormalities on chromosomes 9 or 10, along with unusual amounts of growth factors and proteins, which are thought to contribute to the more rapid growth of these gliomas.
oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3
A central nervous system benign neoplasm that is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae.
papillary glioneuronal tumor
A central nervous system benign neoplasm that is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers.
rosette-forming glioneuronal tumor
A central nervous system benign neoplasm that is characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum but has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma.
myxoid glioneuronal tumor
A central nervous system embryonal tumor that is characterized by the presence of multilayered rosette formation and typically the presence of amplification of the C19MC region on chromosome 19 (19q13.42) or rarely a DICER1 mutation.
Embryonal tumour with multilayered rosettes
embryonal tumor with multilayered rosettes
A white sponge nevus that has_material_basis_in heterozygous mutation in the keratin-4 gene (KRT4) on chromosome 12q13.
white sponge nevus 1
A white sponge nevus that has_material_basis_in heterozygous mutation in the KRT13 gene on chromosome 17q21.
white sponge nevus 2
A craniosynostosis that is characterized by radiohumeral synostosis present from the perinatal period.
Antley-Bixler syndrome
An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome.
Antley-Bixler syndrome without disordered steroidogenesis
A tauopathy that is characterized by an abundance of hyperphosphorylated tau protein in neurons, astrocytes and cell processes around blood vessels and that is associated with repetitive head impacts or exposure to blast waves.
chronic traumatic encephalopathy
A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.
traumatic brain injury
A mucoepidermoid carcinoma located_in the salivary gland.
salivary gland mucoepidermoid carcinoma
A neurodegenerative disease that is characterized by a wide range of clinical manifestations, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction, and that has_material_basis_in heterozygous repeat expansion (CGG) in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21.
neuronal intranuclear inclusion disease
An essential tremor that is characterized by adult-onset kinetic and/or postural tremor usually affecting the upper limbs and that has_material_basis_in heterozygous trinucleotide GGC repeat expansion in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21.
essential tremor 6
A myopathy that is characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities.
oculopharyngodistal myopathy
An oculopharyngodistal myopathy that is characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria, and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22.
oculopharyngodistal myopathy 1
An oculopharyngodistal myopathy that is characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life, and that has_material_basis_in heterozygous trinucleotide repeat expansion (GGC(n)) in the 5-prime untranslated region (UTR) of the GIPC1 gene on chromosome 19p13.
oculopharyngodistal myopathy 2
An oculopharyngodistal myopathy that is characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the NOTCH2NLC gene on chromosome 1q21.
oculopharyngodistal myopathy 3
An oculopharyngodistal myopathy that is characterized by progressive ptosis, ophthalmoparesis, facial and masseter weakness, and muscle weakness of the distal limbs and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the RILPL1 gene on chromosome 12q24.
oculopharyngodistal myopathy 4
A syndromic intellectual disability that is characterized by global developmental delay, mildly impaired intellectual development, ophthalmologic anomalies, microcephaly or relative microcephaly, hearing loss, and characteristic facial features, and that has_material_basis_in heterozygous mutation in the MTSS2 gene on chromosome 16q22.
MTSS2-related neurodevelopmental disorder
intellectual developmental disorder with ocular anomalies and distinctive facial features
A central nervous system benign neoplasm that is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma.
Diffuse leptomeningeal glioneuronal tumour
diffuse leptomeningeal glioneuronal tumor
A central nervous system benign neoplasm that is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation and that affecting the cerebral hemispheres.
multinodular and vacuolating neuronal tumor
An anaplastic astrocytoma that is characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa.
high-grade astrocytoma with piloid features
A central nervous system benign neoplasm that is characterized by the presence of oligodendroglioma-like components, may also contain astrocytic components and is associated with seizures and in many cases refractory epilepsy.
Massively Calcified Low Grade Glioma
Polymorphous low-grade neuroepithelial tumour of the young
polymorphous low grade neuroepithelial tumour of the young
A posterior pituitary benign neoplasm that is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles.
spindle cell oncocytoma
A lymphoproliferative syndrome that is characterized by overproduction (proliferation) of white blood cells called lymphocytes. The abnormal cells infiltrate and accumulate (form lesions or nodules) within tissues. The lesions or nodules damage or destroy the blood vessels within these tissues.
lymphomatoid granulomatosis
A lymphomatoid granulomatosis that is characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. Large lymphocytes are absent or rare. By in situ hybridization, EBV-positive cells are infrequently seen.
grade I lymphomatoid granulomatosis
A lymphomatoid granulomatosis that is characterized by the presence of occasional large lymphoid cells or immunoblasts in a polymorphous background. Necrosis is more commonly seen as compared to grade I lymphomatoid granulomatosis. By in situ hybridization, EBV-positive cells are readily seen.
grade II lymphomatoid granulomatosis
A lymphomatoid granulomatosis that is characterized by the presence of aggregates of neoplastic large B-lymphocytes, usually admixed with pleomorphic and Hodgkin-like cells, in a background of chronic inflammation. Necrotic changes are present and are usually extensive.
grade III lymphomatoid granulomatosis
A B-cell lymphoma that is characterized by the presence of lymphoma cells exclusively in the lumina of small vessels, particularly capillaries.
intravascular large B-cell lymphoma
A non-Hodgkin lymphoma of T-cell lineage.
T-cell non-Hodgkin lymphoma
A diffuse large B-cell lymphoma arising from the central nervous system.
primary diffuse large B-cell lymphoma of the central nervous system
A cerebral ventricle cancer that is characterized by the presence of neoplastic uniform, round cells with neuronal differentiation, that arises from the brain parenchyma. Unlike central neurocytoma, it does not involve the lateral ventricles.
extraventricular neurocytoma
A central nervous system embryonal tumor that is characterized by the presence of uniform oval or spindle-shaped cells with round or oval nuclei, pseudorosette formation, and heterozygous internal tandem duplication in exon 15 of the BCOR gene.
CNS tumour with BCOR internal tandem duplication
central nervous system tumor with BCOR internal tandem duplication
A brain sarcoma that is composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. It is associated with mutations in the DICER1 gene.
primary intracranial sarcoma, DICER1-mutant
A multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22.
multiple synostoses syndrome 1
A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11.
multiple synostoses syndrome 2
A multiple synostoses syndrome that is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the FGF9 gene on chromosome 13q12.
multiple synostoses syndrome 3
A multiple synostoses syndrome that is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22.
multiple synostoses syndrome 4
A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature and that has material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.
Autosomal dominant multiple pterygium syndrome
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions and that has_material_basis_in compound heterozygous mutation in the MYH3 gene on chromosome 17p13.
Autosomal recessive multiple pterygium syndrome
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B
A syndrome that is characterized by fatigue, problems with memory or concentration, joint and muscle pain, hair loss, weight changes and anxiety/depression.
breast implant illness
An autosomal recessive intellectual developmental disorder that is characterized by poor growth, spastic tetraplegia, and hearing loss and that has_material_basis_in homozygous mutation in the PSMC1 gene on chromosome 14q32.
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
A developmental and epileptic encephalopathy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis and that has_material_basis_in heterozygous mutation in the CHD2 gene on chromosome 15q26.
developmental and epileptic encephalopathy 94
An amino acid metabolic disorder that is characterized by infantile and pediatric onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures and that has_material_basis_in homozygous mutation in the oxoglutarate dehydrogenase gene (OGDH) on chromosome 7p13.
alpha-ketoglutarate dehydrogenase deficiency
oxoglutarate dehydrogenase deficiency
A neurodegenerative disease that is characterized by neurodevelopmental regression that became apparent between 2 and 10 years of age after normal early development in most patients, although a few had mild early delays and that has_material_basis_in heterozygous mutation in the IRF2BPL gene on chromosome 14q24.
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
A hyperinsulinemic hypoglycemia characterized by protein-related hypoglycemia and persistent mild hyperammonemia and that has_material_basis_in homozygous mutation in the SLC25A36 gene on chromosome 3q23.
familial hyperinsulinemic hypoglycemia 8
A glycogen storage disease that is characterized by severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas.
glycogen storage disease I
A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23.
glycogen storage disease Ib
A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. G6PT1 is also the site of the defect in glycogen storage disease Ib.
glycogen storage disease Ic
A syndrome that is characterized by the premature onset of age-related pathologies.
progeroid syndrome
A progeroid syndrome that is characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment and that has_material_basis_in compound heterozygous mutation in the POLR3A gene on chromosome 10q22.
Wiedemann-Rautenstrauch syndrome
A progeroid syndrome that is characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life and that has_material_basis_in homozygous mutation in the BANF1 gene on chromosome 11q13. Onset is after 2 years of age.
Progeria syndrome, childhood-onset, with osteolysis
Nestor-Guillermo progeria syndrome
A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14.
cryptophthalmos with other malformations
A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13.
Tietz albinism-deafness syndrome
albinism-deafness of Tietz
hypopigmentation/deafness of Tietz
A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14.
Andermann syndrome
Charlevoix disease
corpus callosum agenesis-neuronopathy syndrome
agenesis of the corpus callosum with peripheral neuropathy
A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has_material_basis_in homozygous or compound heterozygous mutation in the CHST3 gene on chromosome 10q22.
spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome
progressive pseudorheumatoid arthropathy of childhood
A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36.
Aberfeld syndrome
Burton skeletal dysplasia
Burton syndrome
Catel-Hempel syndrome
Catel-Hempel type dysostosis enchondralis metaepiphysaria
Schwartz-Jampel syndrome type 1
Schwartz-Jampel-Aberfeld syndrome
myotonic chondrodystrophy
myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
osteochondromuscular dystrophy
A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24.
CAKUT with or without ocular abnormalities
coloboma of optic nerve with renal disease
congenital anomalies of the kidney and urinary tract with or without ocular abnormalities
optic coloboma, vesicoureteral reflux and renal anomalies
papillo-renal syndrome, optic nerve coloboma with renal disease
papillorenal syndrome
renal-coloboma syndrome with macular abnormalities
A syndrome characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases.
ICF syndrome
immunodeficiency-centromeric instability-facial anomalies syndrome
An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the DNMT3B gene on chromosome 20q11.2.
ICF syndrome 1
immunodeficiency-centromeric instability-facial anomalies syndrome 1
An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the ZBTB24 gene on chromosome 6q21.
ICF syndrome 2
immunodeficiency-centromeric instability-facial anomalies syndrome 2
An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous mutation in the CDCA7 gene on chromosome 2q31.
ICF syndrome 3
immunodeficiency-centromeric instability-facial anomalies syndrome 3
An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the HELLS gene on chromosome 10q23.
ICF syndrome 4
immunodeficiency-centromeric instability-facial anomalies syndrome 4
A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13.
SCID due to DCLRE1C deficiency
SCID due to artemis deficiency
SCID, Athabascan type
SCID, Athabaskan type
Severe combined immunodeficiency due to DCLRE1C deficiency
Severe combined immunodeficiency due to artemis deficiency
Severe combined immunodeficiency, Athabascan type
Severe combined immunodeficiency, Athabaskan type
artemis deficiency
severe combined immunodeficiency with sensitivity to ionizing radiation
A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12.
SCID due to complete RAG1-2 deficiency
Severe combined immunodeficiency due to complete RAG1-2 deficiency
autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive
A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has_material_basis_in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31.
autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive
A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11.
syndactyly type 7
A chromosomal deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has_material_basis_in somatic deletion of 1 allele of the RPS14, MIR145, MIR146A and/or DDX41 genes on chromosome 5q.
5q- syndrome, refractory macrocytic anemia due to 5q deletion
myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
An syndrome characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24.
epidermolysis bullosa simplex and limb-girdle muscular dystrophy
limb-girdle muscular dystrophy with epidermolysis bullosa simplex
epidermolysis bullosa simplex with muscular dystrophy
A primary immunodeficiency disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13.
TNF receptor 1-associated periodic syndrome
familial Hibernian fever
tumor necrosis factor receptor 1 associated periodic syndrome
autosomal dominant familial periodic fever
An intestinal disease that is characterized by autosomal recessive inheritance of unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene or in the ABCG5 gene, both of which are located on chromosome 2p21.
phytosterolemia
A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting.
lobster-claw deformity
split-hand deformity
A split-hand/foot malformation that has_material_basis_in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region.
SHFD1
SHFM1
A split-hand/foot malformation that has_material_basis_in deletions in the chromosome region 2q31.
SHFM5
A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 on chromosome 3q28.
SHFM4
A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21.
SHFM1D
congenital deafness with split hands and feet
split hand-foot malformation 1 with sensorineural hearing loss
A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24.
SHFM3
chromosome 10q24 duplication syndrome
distal limb deficiencies with micrognathia
A split-hand/foot malformation that has_material_basis_in homozygous mutation in the WNT10B gene on chromosome 12q13.
SHFM6
A split-hand/foot malformation that has_material_basis_in variation in the chromosome region Xq26.
SHFM2
A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12.
ataxia with isolated vitamin E deficiency
familial isolated vitamin E deficiency
familial isolated deficiency of vitamin E
An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q.
IOMID syndrome
NOMID syndrome
Prieur-Griscelli syndrome
chronic infantile neurological cutaneous articular syndrome
chronic neurologic cutaneous and articular syndrome
cryopyrin-associated periodic syndrome 3
infantile-onset multisystem inflammatory disease
neonatal-onset multisystem inflammatory disease
An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32.
CBG deficiency
transcortin deficiency
corticosteroid-binding globulin deficiency
A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dieing before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2.
An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) on chromosome 1p36.
Silverman-Handmaker type dyssegmental dysplasia
A dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles and dystonia, usually torticollis or writer's cramp, that typically responds to alcohol and has onset in the first or second decade of life.
A myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21.
A myoclonic dystonia that is characterized by jerky movements of the upper limbs, hands, and axial muscles, and has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p11.
A myoclonic dystonia characterized by onset of myoclonic jerks affecting the upper limbs, progressing to dystonia with predominant involvement of the craniocervical regions, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the KCTD17 gene on chromosome 22q12.
A dystonia that is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 1p36.32-p36.13.
A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35.
A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the THAP domain containing 1 gene (THAP1) on chromosome 8p11.
A focal dystonia that is characterized by predomiantly cervical dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p.
A dystonia that is characterized by progressive laryngeal and cervical dystonia (onset in the second to third decade of life) followed by involvement of other muscles, such as the neck or limbs that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 4A class IVa (TUBB4A) gene on chromosome 19p13.
A dystonia that is characterized by progressive dystonia, dysphonia, dysarthria and neck torticollis, and has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 20p11.2-q13.12.
A dystonia characterized by childhood-onset dystonia that responds to low doses of levodopa (L-dopa) and may be associated with parkinsonism at an older age and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene enconding GTP cyclohydrolase 1 (GCH1) on chromosome 14q13.
A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34.
A dystonia that is characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34.
childhood onset GLUT1 deficiency syndrome 2
A dystonia characterized by late onset pure torsion dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q14.3-q21.3.
A dystonia characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q31.
A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of interferon induced protein kinase EIF2AK2 (PRKRA) gene on chromosome 2q31.
A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35.
A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37.
A focal dystonia characterized by adult-onset cervical dystonia typically in the fourth or fifth decade of life that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the CACNA1B gene on chromosome 9q34.
A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ANO3) gene on chromosome 11p14.
A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11.
Paroxysmal kinesigenic choreoathetosis
A dystonia that is characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 16q13-q22.1.
A multifocal dystonia that is characterized by cervical, laryngeal and hand-forearm dystonia, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the GNAL gene on chromosome 18p11.
A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13.
A focal dystonia that is characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in X-linked recessive inheritance of SVA retrotransposon insertion in the intron of the TATA-box binding protein associated factor 1 gene (TAF1) on chromosome Xq13.1.
A generalized dystonia that is characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy.
A retinal disease that is characterized by early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear receptor subfamily 2 group E member 3 gene (NR2E3) on chromosome 15q23.
A syndrome that is characterized by permanent neonatal diabetes mellitus with multiple epiphyseal dysplasia, osteoporosis, growth retardation and frequently hepatic and renal dysfunction that has_material_basis_in homozygous mutation in the eukaryotic translation initiation factor 2 alpha kinase 3 (EIF2AK3) gene on chromosome 2p11.2.
A primary immunodeficiency disease characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.
A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44.
familial cold autoinflammatory syndrome 1
A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP12 gene on chromosome 19q13.
NLRP12-associated hereditary periodic fever syndrome
familial cold autoinflammatory syndrome 2
A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q.
familial cold autoinflammatory syndrome 3
A familial cold autoinflammatory syndrome that is characterized by episodic high fevers, urticaria-like rash, and arthralgias starting at 2-3 months of age and often induced by cold-exposure that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the NLRC4 gene on chromosome 2p22.
familial cold autoinflammatory syndrome 4
A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.
A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25.
An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (GAN) gene on chromosome 16q23.
An axonal neuopathy that is characterized by distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the DDB1- and CUL4-associated factor 8 (DCAF8) gene on chromosome 1q23.
A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone.
congenital idiopathic hypogonadotropic hypogonadism
isolated congenital gonadotropin deficiency
A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TACR3 gene on chromosome 4q24.
hypogonadotropic hypogonadism 11 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the GNRH1 gene on chromosome 8p21.
familial hypogonadotrophic eunuchoidism
familial idiopathic gonadotrpin deficiency
hypogonadotropic hypogonadism 12 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the KISS1 gene on chromosome 1q32.
hypogonadotropic hypogonadism 13 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the KISS1R gene on chromosome 19p13, sometimes in association with mutation in other genes.
hypogonadotropic hypogonadism 8 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in mutation in the HS6ST1 gene on chromosome 2q14, sometimes in association with mutations in other genes.
hypogonadotropic hypogonadism 15 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in heterozygous or homozygous mutation in the IL17RD gene on chromosome 3p14, sometimes in association with mutation in other genes.
hypogonadotropic hypogonadism 18 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the prokineticin-2 gene (PROK2) on chromosome 3p13, sometimes in association with mutation in another gene.
hypogonadotropic hypogonadism 4 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported.
hypogonadotropic hypogonadism 7 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the SPRY4 gene on chromosome 5q31, sometimes in association with mutations in other genes.
hypogonadotropic hypogonadism 17 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in mutation in the SEMA3A gene on chromosome 7, sometimes in association with mutations in other genes.
hypogonadotropic hypogonadism 16 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the FEZF1 gene on chromosome 7q31.
hypogonadotropic hypogonadism 22 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGF17 gene on chromosome 8p21, sometimes in association with mutations in other genes.
hypogonadotropic hypogonadism 20 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes.
hypogonadotropic hypogonadism 2 with or without anosmia
A hypogonadotropic hypogonadism that is characterised by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CHD7 gene on chromosome 8q12.
hypogonadotropic hypogonadism 5 with or without anosmia
A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the NELF gene on chromosome 9q34, sometimes in association with mutation in another gene.
hypogonadotropic hypogonadism 9 with or without anosmia
A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene.
hypogonadotropic hypogonadism 6 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the WDR11 gene on chromosome 10q26.
hypogonadotropic hypogonadism 14 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the FSHB gene on chromosome 11p14.
isolated follicle-stimulating hormone deficiency
hypogonadotropic hypogonadism 24 without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TAC3 gene on chromosome 12q13.
hypogonadotropic hypogonadism 10 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the DUSP6 gene on chromosome 12q22, sometimes in association with mutations in other genes.
hypogonadotropic hypogonadism 19 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13.
46,XY DSD due to LHB deficiency
46,XY DSD due to luteinizing hormone subunit beta deficiency
46,XY disorder of sex development due to LHB deficiency
46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency
Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency
Pasqualini syndrome
fertile eunuch syndrome
leydig cell hypoplasia due to LHB deficiency
hypogonadotropic hypogonadism 23 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the PROKR2 gene on chromosome 20p12, sometimes in association with mutation in another gene.
hypogonadotropic hypogonadism 3 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FLRT3 gene on 20p11, sometimes in association with mutations in other genes.
hypogonadotropic hypogonadism 21 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in mutation in the KAL1 gene on chromosome Xp22.3, sometimes in association with mutation in another gene.
dysplasia olfactogenitalis of de morsier
hypogonadotropic hypogonadism 1 with or without anosmia
An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritane of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates.
WS2-OA
autosomal recessive Waardenburg syndrome type 2 with ocular albinism
digenic Waardenburg syndrome/albinism
digenic Waardenburg syndrome/ocular albinism
ocular albinism with sensorineural deafness
A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36.
fatal congenital hypertrophic cardiomyopathy due to GSD
fatal congenital hypertrophic cardiomyopathy due to glycogenosis
fatal congenital nonlysosomal cardiac glycogenosis
phosphorylase kinase deficiency of heart
lethal congenital glycogen storage disease of heart
A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and has_material_basis_in autosomal dominant inheritance of mutation in the tubulin beta-1 (TUBB1) gene on chromosome 20q13.3.
autosomal dominant macrothrombocytopenia TUBB1-related
A prion disease that is characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has_material_basis_in autosomal dominant inheritance of 8 extra octapeptide repeats in the prion protein (PRNP) gene on chromosome 20p13.
HDL1
HLN1
Huntington disease-like 1
Huntington-like neurodegenerative disorder 1
autosomal dominant Huntington-like neurodegenerative disorder
early-onset prion disease with prominent psychiatric features
A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24.
HDL2
Huntington disease-like 2
A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36.
ARH
ARH1
ARH2
FHCB1
FHCB2
autosomal recessive hypercholesterolemia 1
autosomal recessive hypercholesterolemia 2
familial autosomal recessive hypercholesterolemia
autosomal recessive hypercholesterolemia
A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1.
6-pyruvoyl-tetrahydropterin synthase deficiency
HPABH4A
PTS deficiency
hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency
An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21.
HYPOC1
An autosomal dominant hypocalcemia that has_material_basis_in heterozygous mutation in the G protein subunit alpha 11 gene (GNA11) on chromosome 19p13.
HYPOC2
A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone.
HYPOC
An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has_material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11.
Autoimmune enteropathy type 1
DMSD
IDDM-secretory diarrhea syndrome
IPEX
X-linked autoimmunity-allergic dysregulation syndrome
XLAAD
XPID
autoimmunity-immunodeficiency syndrome, X-linked
diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea
diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked
immunodeficiency, polyendocrinopathy, and enteropathy, X-linked
immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
A syndrome that is characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, including: neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy, and has_material_basis_in heterozygous mutation in the SRY-box 10 (SOX10) gene on chromosome 22q13.
Neurologic Waardenburg-Shah syndrome
PCWH
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome
A syndrome that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has_material_basis_in homozygous mutation in the TYRO protein tyrosine kinase binding protein (TYROBP) gene on chromosome 19q13 or homozygous mutation in the triggering receptor expressed on myeloid cells 2 (TREM2) gene on chromosome 6p21.
NHD
PLO-SL
PLOSL
polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
presenile dementia with bone cysts
progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease
A syndrome that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that has_material_basis_in homozygous or compound heterozygous mutation in the ring finger protein 168 (RNF168) gene on chromosome 3q29.
RNF168 deficiency
Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
A hereditary retinal dystrophy that is characterized by loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TIMP metallopeptidase inhibitor 3 (TIMP3) gene on chromosome 22q12.
SFD
hemorrhagic macular dystrophy
pseudoinflammatory fundus dystrophy of Sorsby
A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11.
SCAN1
autosomal recessive spinocerebellar ataxia with axonal neuropathy
spinocerebellar ataxia type 1 with axonal neuropathy
A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3.
SCT
congenital scoliosis with unilateral unsegmented bar
congenital synspondylism
spondylocarpotarsal syndrome
spondylocarpotarsal synostosis
vertebral fusion with carpal coalition
A syndrome that is characterized by megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness where the anemia and sometimes diabetes is repsonsive to high doses of thiamine, and that has_material_basis_in homozygous mutation in the solute carrier family 19 member 2 (SLC19A2) gene on chromosome 1q24.
Rogers syndrome
THMD1
TRMA
thiamine metabolism dysfunction syndrome 1
thiamine-responsive anaemia syndrome
thiamine-responsive anemia syndrome
thiamine-responsive megaloblastic anaemia syndrome
thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness
thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness
thiamine-responsive myelodysplasia
thiamine-responsive megaloblastic anemia syndrome
A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene (MPL) on chromosome 1p34.
CAMT
congenital amegakaryocytic thrombocytopenic purpura
congenital amegakaryocytic thrombocytopenia
An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27.
AEC syndrome
Hay-Wells syndrome
ankyloblepharon-ectodermal defects-cleft lip and palate syndrome
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has_material_basis_in heterozygous mutation in the colony stimulating factor 3 receptor (CSF3R) gene on chromosome 1p34.
A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene.
AEXS
familial hyperestrogenism
hereditary prepubertal gynecomastia
increased aromatase activity
An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12.
AADC deficiency
aromatic L-amino acid decarboxylase deficiency
An arthrogryposis multiplex congenita that is characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor neuron depletion, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the endoplasmic reticulum-golgi intermediate compartment protein 1 gene (ERGIC1) on chromosome region 5q35.
AMC neurogenic type
AMCN
arthrogryposis multiplex congenita 2, neurogenic type
arthrogryposis multiplex congenita neurogenic type
neurogenic-type arthrogryposis multiplex congenita-2
A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34.
BSVD1
COL4A1-related brain small vessel disease with hemorrhage
COL4A1-related familial vascular leukoencephalopathy
COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome
autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy
brain small vessel disease with Axenfeld-Riegar anomaly
brain small vessel disease with hemorrhage
brain small vessel disease with or without ocular anomalies
infantile hemiparesis
leukoencephalopathy with Axenfeld-Riegar anomaly
An amino acid metabolic disorder that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the branched chain keto acid dehydrogenase kinase gene (BCKDK) on chromosome 16p11.
BCKDK deficiency
BCKDKD
autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
branched-chain keto acid dehydrogenase kinase deficiency
A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31.
CACP
CACP syndrome
CAP syndrome
Jacobs syndrome
PAC syndrome
arthropathy-camptodactyly syndrome
camptodactyly-arthropathy-pericarditis syndrome
congenital familial hypertrophic synovitis
familial fibrosing serositis
pericarditis-arthropathy-camptodactyly syndrome
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24.
DCWHK
dilated cardiomyopathy with woolly hair and keratoderma
palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13.
CPT I deficiency
CPT1A deficiency
L-CPT1 deficiency
carnitine palmitoyl transferase 1A deficiency
carnitine palmitoyl transferase IA deficiency
hepatic CPT deficiency type I
hepatic carnitine palmitoyl transferase 1 deficiency
hepatic carnitine palmitoyl transferase I deficiency
carnitine palmitoyltransferase I deficiency
A brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the contactin associated protein like 2 (CNTNAP2) gene on chromosome 7q35-q36.
CDFE syndrome
CDFES
PTHSL1
Pitt-Hopkins-like syndrome-1
cortical dysplasia-focal epilepsy syndrome
A brain disease characterized by aberrant neuronal migration and disturbed axonal guidance resulting in variable brain malformations.
CDCBM
complex cortical dysplasia with other brain malformations
A complex cortical dysplasia with other brain malformations that is characterized by abnromalities in coritcal brain development that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene on chromosome 6p25.
CDCBM7
polymicrogyria due to TUBB2B mutation
complex cortical dysplasia with other brain malformations 7
A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 5C (KIF5C) gene on chromosome 2q23.
CDCBM2
complex cortical dysplasia with other brain malformations 2
A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 2A (KIF2A) gene on chromosome 5q12.
CDCBM3
complex cortical dysplasia with other brain malformations 3
A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2A class IIa (TUBB2A) gene on chromosome 6p25.
CDCBM5
complex cortical dysplasia with other brain malformations 5
A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta class I (TUBB) gene on chromosome 6p21.
CDCBM56
complex cortical dysplasia with other brain malformations 6
A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3.
CDCBM1
cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
complex cortical dysplasia with other brain malformations 1
A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin gamma 1 gene on chromosome 17q21.
CDCBM4
complex cortical dysplasia with other brain malformations 4
An endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism.
CORTRD
A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32.
CORTRD2
A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36.
CORTRD1
An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31.
cystathionase deficiency
cystathione gamma-lyase deficiency syndrome
gamma-cystathionase deficiency
A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13.
DASS
STHAG6
dental anomalies and short stature
platyspondyly with amelogenesis imperfecta
selective tooth agenesis 5
brachyolmia-amelogenesis imperfecta syndrome
A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31.
DBS/FOAR syndrome
FOAR syndrome
Holmes-Schepens syndrome
diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria
diaphragmatic hernia-exomphalos-hypertelorism syndrome
diaphragmatic hernia-hypertelorism-myopia-deafness syndrome
facio-oculo-acoustico-renal syndrome
faciooculoacousticorenal syndrome
syndrome of ocular and facial anomalies, telecanthus and deafness
An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopamine beta-hydroxylase gene (DBH) on chromosome 9q34.
congenital dopamine beta-hydroxylase deficiency
noradrenaline deficiency
norepinephrine deficiency
A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the DNAJC19 gene on chromosome 3q26.
3-methylglutaconic aciduria type V
DCMA
DCMA syndrome
MGA5
MGCA5
dilated cardiomyopathy with ataxia
A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25.
3-methylglutaconic aciduria type 6
MEGDEL
MEGDEL syndrome
MGCA6
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22.
3-methylglutaconic aciduria type I
3-methylglutaconyl-CoA hydratase deficiency
3MG-CoA hydratase deficiency
MGA type I
MGA1
A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13.
3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type VII
MEGCANN
MGA7
MGCA7
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene.
3-methylglutaconic aciduria type III
Costeff optic atrophy syndrome
Costeff syndrome
Iraqi-Jewish optic atrophy plus
MGA3
autosomal recessive optic atrophy plus syndrome
autosomal recessive optic atrophy type 3
infantile optic atrophy with chorea and spastic paraplegia
A Leber congenital amaurosis that has_material_basis_in mutation in the NMNAT1 gene on chromosome 1p36.
LCA9
A 3-methylglutaconic aciduria that is characterized by mild or intermittent urinary excretion of 3-methylglutaconic acid.
3-methylglutaconic aciduria type IV
MGA type IV
MGA4
MGCA4
An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11.
ACHM2
RMCH2
rod monochromacy 2
rod monochromatism 2
An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2.
ACHM1
ACHM3
Pingelapese blindness
RMCH1
rod monochromacy 1
rod monochromatism 1
An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the ATF6 gene on chromosome 1q23.
ACHM7
An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the GNAT2 gene on chromosome 1p13.
ACHM4
An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER2 gene on chromosome 2q37.
FASPS1
familial advanced sleep phase syndrome 1
An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the CSNK1D gene on chromosome 17q25.
FASPS2
familial advanced sleep phase syndrome 2
An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER3 gene on chromosome 1p36.23.
FASPS3
familial advanced sleep phase syndrome 3
An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1.
ARMD1
age related maculopathy 1
An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22.
ARMD2
A Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has_material_basis_in mutation in the RPE65 gene on chromosome 1.
LCA2
amaurosis congenita of Leber II
An age related macular degeneration conferred by variation in the CFH gene on chromosome 1q31.
ARMD4
An age related macular degeneration conferred by heterozygous mutation in the RAXL1 gene on chromosome 19p13.
ARMD6
An age related macular degeneration conferred by variation in the HTRA1 gene on chromosome 10q26.
ARMD7
An age related macular degeneration that has_material_basis_in mutation in the ARMS2 gene, originally designated LOC387715, on chromosome 10q26.
ARMD8
An age related macular degeneration conferred by variation in the C3 gene on chromosome 19p13.
ARMD9
An age related macular degeneration associated with variation in the genomic region 9:112,100,000-127,500,000 (GRCh38). TLR4 has been put forth as a candidate gene.
ARMD10
An age related macular degeneration conferred by variation in the CST3 gene on chromosome 20p11.
ARMD11
An age related macular degeneration conferred by mutation in the CX3CR1 gene on chromosome 3p22.
ARMD12
An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25.
ARMD13
An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21.
ARMD14
An age related macular degeneration conferred by variation in the C9 gene on chromosome 5p13.
ARMD15
An age related macular degeneration onferred by heterozygous mutation in the ERCC6 gene on chromosome 10q11.
ARMD5
An alpha thalassemia that has_material_basis_in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others.
ATR syndrome linked to chromosome 16
ATR syndrome, deletion type
ATR-16 syndrome
alpha thalassemia-intellectual disability syndrome, deletion type
alpha thalassemia-retardation syndrome
alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
alpha-thalassemia/mental retardation syndrome, deletion-type
alpha-thalassemia/mental retardation syndrome, type 1
alpha thalassemia-intellectual disability syndrome type 1
An alpha thalassemia that has_material_basis_in mutation in the ATRX gene on Xq21.
ATR, nondeletion type
ATR-X syndrome
alpha-thalassemia/mental retardation syndrome nondeletion type
alpha thalassemia-X-linked intellectual disability syndrome
An alpha thalassemia that has_material_basis_in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other.
HBH
alpha thalassemia, haemoglobin H type
alpha thalassemia, hemoglobin H type
alpha-thalassemia intermedia
haemoglobin H disease
haemoglobin H disease, deletional
hemoglobin H disease, deletional
An Alport syndrome that has_material_basis_in heterozygous mutation in the COL4A3 gene.
An Alport syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q.
An Alport syndrome that has_material_basis_in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5).
nephropathy and deafness, X-linked
An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele.
AD2
Alzheimer disease 2, late onset
Alzheimer disease associated with APOE4
Alzheimer disease-2
An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3.
AD16
Alzheimer's disease 16, late onset
An Alzheimer's disease that is characterized by an associated with variation in the region 12p11.23-q13.12.
AD5
Alzheimer disease 5
Alzheimer disease, familial 5
Alzheimer's disease 5, late onset
An Alzheimer's disease that is characterized by an associated with variation in the region 10q24.
AD6
Alzheimer disease 6
Alzheimer disease 6, late onset
An Alzheimer's disease that is characterized by an associated with variation in the region 10p13.
AD7
Alzheimer disease 7
Alzheimer disease, familial 7
An Alzheimer's disease that has_material_basis_in a mutation in the presenilin-2 gene (PSEN2) on chromosome 1q42.
AD4
Alzheimer disease 4
Alzheimer disease, familial4
Alzheimer's disease 4, early onset
An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21.
AD8
Alzheimer disease 8
Alzheimer disease, familial 8
Alzheimer's disease 8, late onset
An Alzheimer's disease that has_material_basis_in mutation in the presenilin-1 gene (PSEN1) on chromosome 14q24.
AD3
Alzheimer disease 3
Alzheimer disease 3, early onset
Alzheimer disease familial 3
An Alzheimer's disease that is characterized by an associated with variation in the region 7q36.
AD10
Alzheimer disease 10
Alzheimer disease familial 10
Alzheimer's disease 10, early onset
An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1.
AD11
Alzheimer disease 11
Alzheimer's disease 11, late onset
An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22.
AD12
Alzheimer disease 12
Alzheimer disease familial 12
An Alzheimer's disease that is characterized by an associated with variation in the region 1q21.
AD13
Alzheimer disease 13
Alzheimer's disease 13, late onset
An Alzheimer's disease that is characterized by an associated with variation in the region 1q25.
AD14
Alzheimer disease 14
Alzheimer's disease 14, late onset
An Alzheimer's disease that is characterized by an associated with variations in the region 3q22-q24.
AD15
Alzheimer disease 15
Alzheimer's disease 15, late onset
Alzheimer's disease 15
An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2.
AD17
Alzheimer disease 17
Alzheimer disease 17, late onset
An Alzheimer's disease that has_material_basis_in a mutation in the ADAM10 gene on chromosome 15q21.
AD18
Alzheimer disease 18
Alzheimer's disease 18, late onset
An Alzheimer's disease that is characterized by associated variants of the gene PLD3.
AD19
Alzheimer disease 19
Alzheimer disease 19 late onset
An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13.
AI1B
AIH2
amelogenesis imperfecta type IB
autosomal dominant hypoplastic local amelogenesis imperfecta
hereditary localized enamel hypoplasia
An amelogenesis imperfecta which can has_material_basis_in mutation in the DLX3 gene.
AI4
AIHHT
amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism
An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32.
AI1A
amelogenesis imperfecta hypoplastic type IA
amelogenesis imperfecta type IA
An amelogenesis imperfecta type 3 that has_material_basis_in heterozygous mutation in the FAM83H gene on chromosome 8q24.
ADHCAI
AI3
amelogenesis imperfecta hypomineralization type
amelogenesis imperfecta type III
autosomal dominant amelogenesis imperfecta hypocalcification type
An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the enamelin gene (ENAM).
AI1C
amelogenesis imperfecta type IC
autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion
autosomal recessive amelogenesis imperfecta local hypoplastic type
An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13.
AI2A1
amelogenesis imperfecta pigmented hypomaturation type 1
amelogenesis imperfecta type IIA1
An amelogenesis imperfecta that has_material_basis_in X-linked dominant mutation in the gene encoding amelogenin (AMELX).
AIH1
X-linked amelogenesis imperfecta 1
X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1
amelogenesis imperfecta hypomaturationtype with snow-capped teeth
amelogenesis imperfecta type IE
X-linked enamel hypoplasia
An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region.
AIH3
amelogenesis imperfecta type IE X-linked 2
amelogenesis imperfecta 3 hypoplastic type
X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2
An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20).
AI2A2
amelogenesis imperfecta hypomaturation type IIA2
amelogenesis imperfecta pigmented hypomaturation type 2
amelogenesis imperfecta type IIA2
amelogenesis imperfecta hypomaturation type 2A2
An amelogenesis imperfecta caused by homozygous mutation in the WDR72 gene.
AI2A3
amelogenesis imperfecta hypomaturation type IIA3
amelogenesis imperfecta type IIA3
amelogenesis imperfecta hypomaturation type 2A3
An amelogenesis imperfecta caused by homozygous mutation in the C4ORF26 gene on chromosome 4q21.
AI2A4
amelogenesis imperfecta hypomaturation type IIA4
amelogenesis imperfecta type IIA4
amelogenesis imperfecta hypomaturation type 2A4
An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the SLC24A4 gene on chromosome 14q32.
AI2A5
amelogenesis imperfecta hypomaturation type IIA5
amelogenesis imperfecta type IIA5
amelogenesis imperfecta hypomaturation type 2A5
An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24.
AI1H
amelogenesis imperfecta type IH
An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ameloblastin gene (AMBN) on chromosome 4q13.
AI1F
amelogenesis imperfecta hypoplastic type IF
amelogenesis imperfecta type IF
An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24.
AI1G
AIGFS
ERS
amelogenesis imperfecta and gingival fibromatosis syndrome
amelogenesis imperfecta hypoplastic with nephrocalcinosis
amelogenesis imperfecta type IG
enamel-renal syndrome
enamel-renal-gingival syndrome
A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia.
ALS-dementia complex
juvenile amyotrophic lateral sclerosis with dementia
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SQSTM1 gene on chromosome 5q35.
frontotemporal dementia and/or amyotrophic lateral sclerosis 3
frontotemporal dementia and/or amyotrophic lateral sclerosis-3
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TBK1 gene on chromosome 12q14.
frontotemporal dementia and/or amyotrophic lateral sclerosis 4
frontotemporal dementia and/or amyotrophic lateral sclerosis-4
An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24.
ARVC1
Uhl anomaly
arrhythmogenic right ventricular cardiomyopathy 1
arrhythmogenic right ventricular dysplasia 1
An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22.
ARVC3
ARVD3
arrhythmogenic right ventricular cardiomyopathy 3
familial arrhythmogenic right ventricular dysplasia 3
arrhythmogenic right ventricular dysplasia 3
An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3.
ARVC4
ARVD4
arrhythmogenic right ventricular cardiomyopathy 4
familial arrhythmogenic right ventricular dysplasia 4
arrhythmogenic right ventricular dysplasia 4
An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25.
ARVC5
ARVD5
arrhythmogenic right ventricular cardiomyopathy 5
familial arrhythmogenic right ventricular dysplasia 5
arrhythmogenic right ventricular dysplasia 5
An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12.
ARVC6
ARVD6
arrhythmogenic right ventricular cardiomyopathy 6
familial arrhythmogenic right ventricular dysplasia 6
arrhythmogenic right ventricular dysplasia 6
An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding desmoplakin (DSP) on chromosome 6p24.
ARVC8
ARVD8
arrhythmogenic right ventricular cardiomyopathy 8
familial arrhythmogenic right ventricular dysplasia 8
arrhythmogenic right ventricular dysplasia 8
An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutations in the PKP2 gene on chromosome 12p11.
ARVC9
ARVD9
arrhythmogenic right ventricular cardiomyopathy 9
familial arrhythmogenic right ventricular dysplasia 9
arrhythmogenic right ventricular dysplasia 9
A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13.
LCA1
amaurosis congenita of Leber I
A Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has_material_basis_in mutation in the CRB1 gene on chromosome 1q31-q32.
LCA8
A Leber congenital amaurosis that has_material_basis_in mutation in the RD3 gene on chromosome 1q32.
LCA12
An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmoglein-2 gene (DSG2) on chromosome 18q12.
ARVC10
ARVD10
arrhythmogenic right ventricular cardiomyopathy 10
familial arrhythmogenic right ventricular dysplasia 10
arrhythmogenic right ventricular dysplasia 10
An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmocollin-2 gene (DSC2) on chromosome 18q.
ARVC11
ARVD11
arrhythmogenic right ventricular cardiomyopathy 11
familial arrhythmogenic right ventricular dysplasia 11
arrhythmogenic right ventricular dysplasia 11
An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding junction plakoglobin (JUP) on chromosome 17q21.
ARVC12
ARVD12
arrhythmogenic right ventricular cardiomyopathy 12
familial arrhythmogenic right ventricular dysplasia 12
arrhythmogenic right ventricular dysplasia 12
An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the CTNNA3 gene on chromosome 10q21.
ARVC13
ARVD13
arrhythmogenic right ventricular cardiomyopathy 13
familial arrhythmogenic right ventricular dysplasia 13
arrhythmogenic right ventricular dysplasia 13
An asphyxiating thoracic dystrophy associated with variation in the region 15q13.
ATD1
SRTD1
short-rib thoracic dysplasia 1 with or without polydactyly
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25.
ATD2
SRTD2
short-rib thoracic dysplasia 2 with or without polydactyly
asphyxiating thoracic dystrophy 2
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.
ATD3
SRPS1
SRPS2B
SRPS3
SRTD3
Saldino-Noonan syndrome
Verma-Naumoff syndrome
polydactyly with neonatal chondrodystrophy, type I
polydactyly with neonatal chondrodystrophy, type III
short rib-polydactyly syndrome, type I
short rib-polydactyly syndrome, type IIB
short-rib thoracic dysplasia 3 with or without polydactyly
asphyxiating thoracic dystrophy 3
An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.
ATD4
SRTD4
short-rib thoracic dysplasia 4 with or without polydactyly
asphyxiating thoracic dystrophy 4
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14.
ATD5
SRTD5
short-rib thoracic dysplasia 5 with or without polydactyly
asphyxiating thoracic dystrophy 5
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.
SRPS5
SRTD7
short rib-polydactyly syndrome type V
short-rib thoracic dysplasia 7 with or without polydactyly
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.
SRTD10
short-rib thoracic dysplasia 10 with or without polydactyly
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33.
Majewski syndrome
SRPS2A
SRTD6
polydactyly with neonatal chondrodystrophy, type II
short rib-polydactyly syndrome type IIA
short-rib thoracic dysplasia 6 with or without polydactyly
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the CEP120 gene on chromosome 5q23.
SRTD13
short-rib thoracic dysplasia 13 with or without polydactyly
An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the WDR60 gene on chromosome 7q36.
SRPS6
SRTD8
short rib-polydactyly syndrome type VI
short-rib thoracic dysplasia 8 with or without polydactyly
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34.
SRTD11
short-rib thoracic dysplasia 11 with or without polydactyly
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the KIAA0586 gene on chromosome 14q23.
SRTD14
short-rib thoracic dysplasia 14 with polydactyly
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.
SRTD9
renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
short-rib thoracic dysplasia 9 with or without polydactyly
An atopic dermatitis conferred by variation in the FLG gene on chromosome 1q21.
ATOD2
An atopic dermatitis associated with variation in the region 20p.
ATOD3
atopic dermatitis with asthma
An atopic dermatitis associated with variation in the region 17q25.3.
ATOD4
An atopic dermatitis associated with variation in the region 13q12-q14.
ATOD5
An atopic dermatitis associated with variation in the region 5q31-q33.
ATOD6
An atopic dermatitis associated with variation in the region 11q13.5.
ATOD7
An atopic dermatitis associated with variation in the region 4q22.1.
ATOD8
An atopic dermatitis associated with variation in the region 3p24.
ATOD9
An atrial heart septal defect type 1 associated with variation in the region 5p.
ASD1
atrial septal defect 1
atrial heart septal defect 1
An atrial heart septal defect type 2 that has_material_basis_in heterozygous mutation in the GATA4 gene on chromosome 8p23.
ASD2
atrial septal defect 2
An atrial heart septal defect type 3 that has_material_basis_in heterozygous mutation in the myosin heavy chain-6 gene (MYH6) on chromosome 14q12.
ASD3
atrial septal defect 3
An atrial heart septal defect type 4 that has_material_basis_in mutation in the TBX20 gene.
ASD4
atrial septal defect 4
An atrial heart septal defect type 5 that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14.
ASD5
atrial septal defect 5
An atrial heart septal defect type 6 that has_material_basis_in heterozygous mutation in the TLL1 gene on chromosome 4q32.
ASD6
atrial septal defect 6
An atrial heart septal defect that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35.
ASD with or without atrioventricular conduction defects
atrial septal defect 7, with or without AV conduction defects
atrial septal defect-atrioventricular conduction defects syndrome
An atrial heart septal defect that has_material_basis_in heterozygous mutation in the CITED2 gene on chromosome 6q23.3.
ASD8
atrial septal defect 8
An atrial heart septal defect that has_material_basis_in heterozygous mutation in the GATA6 gene on chromosome 18q11.
ASD9
atrial septal defect 9
An autoimmune lymphoproliferative syndrome that has_material_basis_in mutation in the CASP10 gene.
ALPS2A
autoimmune lymphoproliferative syndrome type IIA
autoimmune lymphoproliferative syndrome type 2A
An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the CASP8 gene on chromosome 2q33.
ALPS with recurrent viral infections
ALPS2B
CEDS
Caspase 8 deficiency
Caspase 8 deficiency syndrome
Caspase eight deficiency state
autoimmune lymphoproliferative syndrome type IIB
autoimmune lymphoproliferative syndrome with recurrent viral infections
autoimmune lymphoproliferative syndrome type 2B
An autoimmune lymphoproliferative syndrome that has_material_basis_in somatic mutation in the NRAS gene or the KRAS gene on chromosome 12p12.
ALPS type 4
ALPS type IV
ALPS4
RALD
RAS-associated autoimmune leukoproliferative disease
RAS-associated autoimmune leukoproliferative disorder
autoimmune lymphoproliferative syndrome type IV
autoimmune lymphoproliferative syndrome type 4
A Leber congenital amaurosis that has_material_basis_in mutation in the KCNJ13 gene on chromosome 2q37.
LCA16
An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the PRKCD gene on chromosome 3p21.
ALPS3
autoimmune lymphoproliferative syndrome type III
autoimmune lymphoproliferative syndrome type 3
An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25.
RIEG1
Rieger syndrome type 1
An Axenfeld-Rieger syndrome that has_material_basis_in deletions in the region 13q14.
RIEG2
Rieger syndrome type 2
An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25.
Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss
RIEG3
Rieger syndrome type 3
anterior chamber cleavage syndrome
anterior segment mesenchymal dysgenesis
Axenfeld-Rieger syndrome type 3
A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS1 gene on chromosome 11q13.
BBS1
A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the BBS2 gene on chromosome 16q13.
BBS2
A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the ARL6 gene on chromosome 3q11.
BBS3
A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS4 gene on chromosome 15q24.
BBS4
A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS5 gene on chromosome 2q31.
BBS5
A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKKS gene on chromosome 20p12.
BBS6
A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS7 gene on chromosome 4q27.
BBS7
A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the TTC8 gene on chromosome 14q31.
BBS8
A Bardet-Biedl syndrome that has_material_basis_in homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14.
BBS9
A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS10 gene on chromosome 12q21.
BBS10
Bardet-Biedl syndrome 10
A Bardet-Biedl syndrome that has_material_basis_in mutation in the TRIM32 gene on chromosome 9q33.
BBS11
A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS12 gene on chromosome 4q27.
BBS12
A Bardet-Biedl syndrome that has_material_basis_in compound heterozygous mutation in the MKS1 gene on chromosome 17q22.
BBS13
A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the CEP290 gene on chromosome 12q21.
BBS14
A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the WDPCP gene on chromosome 2p15.
BBS15
A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the SDCCAG8 gene on chromosome 1q43.
BBS16
A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LZTFL1 gene on chromosome 3p21.
BBS17
Bardet-Biedl syndrome 17
A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBIP1 gene on chromosome 10q25.
BBS18
A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the IFT27 gene on chromosome 22q12.
BBS19
A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) on chromosome 15q21.
BARTS1
Bartter syndrome type 1
Bartter syndrome type 1 antenatal
hyperprostaglandin E syndrome 1
hypokalemic alkalosis with hypercalciuria 1 antenatal
A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24.
BARTS2
Bartter syndrome type 2
Bartter syndrome type 2 antenatal
hyperprostaglandin E syndrome 2
hypokalemic alkalosis with hypercalciuria 2 antenatal
A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36.
BARTS3
Bartter syndrome type 3
classic Bartter syndrome
A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the BSND gene on chromosome 1p32.
BARTS4A
BSND
Bartter syndrome type 4a
neonatal Bartter syndrome with sensorineural deafness
A Bartter disease that has_material_basis_in simultaneous mutation in both the CLCNKA and CLCNKB genes.
BARTS4B
Bartter syndrome, type 4b, digenic
neonatal Bartter syndrome type 4B with sensorineural deafness
Bartter disease type 4b
A Bartter disease that has_material_basis_in mutation in the MAGED2 gene on chromosome Xp11.
BARTS5
Bartter syndrome, type 5, antenatal, transient
Bartter disease type 5
A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22).
CMT1A
Charcot-Marie-Tooth neuropathy type 1A
HMSN1A
autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A
hereditary motor and sensory neuropathy 1A
microduplication 17p12
A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the NEFL gene.
CMT1F
Charcot-Marie-Tooth neuropathy type 1F
A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2).
CMT1D
Charcot-Marie-Tooth neuropathy type 1D
HMSN ID
HMSN1D
hereditary motor and sensory neuropathy 1D
A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13.
CMT slow nerve conduction type C
CMT1C
Charcot-Marie-Tooth neuropathy type 1C
HMSN IC
HMSN1C
neuropathy hereditary motor and sensory type 1C
A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ).
CMT1B
Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy
Charcot-Marie-Tooth neuropathy type 1B
HMSN IB
HMSN1B
autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B
hereditary motor and sensory neuropathy IB
peroneal muscular atrophy
A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22).
CMT1E
Charcot-Marie-Tooth disease and deafness
Charcot-Marie-Tooth disease demyelinating type 1E
Charcot-Marie-Tooth disease-deafness
autosomal dominant Charcot-Marie-Tooth neuropathy and deafness
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36.
CMT2A1
Charcot-Marie-Tooth disease neuronal type 2A1
Charcot-Marie-Tooth neuropathy type 2A1
HMSN IIA1
HMSN2A1
autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1
hereditary motor and sensory neuropathy IIA1
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.22.
CMT2A2A
Charcot-Marie-Tooth neuronal type 2A2
Charcot-Marie-Tooth neuropathy type 2A2
HMSN IIA2
HMSN2A2
autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2
hereditary motor and sensory neuropathy IIA2
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22.
CMT2B1
Charcot-Marie-Tooth disease neuronal type 2B1
Charcot-Marie-Tooth neuropathy type 2B1
autosomal recessive Charcot-Marie-Tooth disease type 2B1
autosomal recessive axonal CMT4C1
autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1
A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.
CMT2J
Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities
Charcot-Marie-Tooth neuropathy type 2J
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.
CMT2I
Charcot-Marie-Tooth neuropathy type 2I
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21.
CMT2B
Charcot-Marie-Tooth neuropathy type 2B
HMSN IIB
HMSN2B
autosomal dominant Charcot-Marie-Tooth disease type 2B
hereditary motor and sensory nueropathy IIB
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.
AR-CMT2T
CMT2T
Charcot-Marie-Tooth neuropathy type 2T
autosomal recessive axonal Charcot-Marie-Tooth disease type 2T
Charcot-Marie-Tooth disease axonal type 2T
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q.
CMT2R
Charcot-Marie-Tooth neuropathy type 2R
autosomal recessive axonal Charcot-Marie-Tooth disease type 2R
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the HARS gene on chromosome 5q31.
CMT2W
Charcot-Marie-Tooth neuropathy type 2W
autosomal dominant axonal Charcot-Marie-Tooth disease type 2W
Charcot-Marie-Tooth disease, axonal type 2W
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1).
CMT2F
Charcot-Marie-Tooth neuronal type 2F
Charcot-Marie-Tooth neuropathy type 2F
autosomal dominant Charcot-Marie-Tooth disease type 2F
Charcot-Marie-Tooth disease axonal type 2F
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding glycyl tRNA synthetase (GARS).
CMT2D
Charcot-Marie-Tooth disease neuronal type 2D
Charcot-Marie-Tooth neuropathy type 2D
autosomal dominant Charcot-Marie-Tooth disease type 2D
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21.
CMT2E
Charcot-Marie-Tooth neuropathy type 2E
autosomal dominant Charcot-Marie-Tooth disease type 2E
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23.
AR-CMT2C
Autosomal recessive axonal CMT4C2
Axonal Charcot-Marie-Tooth disease with pyramidal involvement
CMT2H
Charcot-Marie-Tooth disease type 2H
autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features
autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features
Charcot-Marie-Tooth disease axonal type 2H
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q.
ARCMT2K
Charcot-Marie-Tooth neuropathy axonal type 2K
autosomal recessive Charcot-Marie-Tooth disease with hoarseness
autosomal recessive axonal CMT4C4
autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K
autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
Charcot-Marie-Tooth disease axonal type 2K
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the VCP gene on chromosome 9p13.
CMT2 due to VCP mutation
CMT2Y
Charcot-Marie-Tooth neuropathy type 2Y
autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation
autosomal dominant axonal Charcot-Marie-Tooth type 2Y
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33.
CMT2P
Charcot-Marie-Tooth disease type 2P
Charcot-Marie-Tooth neuropathy type 2P
Charcot-Marie-Tooth disease axonal type 2P
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14.
CMT2Q
Charcot-Marie-Tooth neuropathy type 2Q
autosomal dominant Charcot-Marie-Tooth disease type 2Q
autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q
Charcot-Marie-Tooth disease axonal type 2Q
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.
CMT2S
Charcot-Marie-Tooth disease type 2S
Charcot-Marie-Tooth neuropathy type 2S
autosomal recessive axonal Charcot-Marie-Tooth type 2S
Charcot-Marie-Tooth disease axonal type 2S
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MARS gene on chromosome 12q13.
CMT2U
Charcot-Marie-Tooth neuropathy type 2U
autosomal dominant Charcot-Marie-Tooth disease type 2U
autosomal dominant axonal Charcot-Marie-Tooth disease type 2U
Charcot-Marie-Tooth disease axonal type 2U
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene.
CMT2L
Charcot-Marie-Tooth neuropathy axonal type 2L
autosomal dominant Charcot-Marie-Tooth disease type 2L
autosomal dominant axonal Charcot-Marie-Tooth disease type 2L
Charcot-Marie-Tooth disease axonal type 2L
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.
Charcot-Marie-Tooth neuropathy axonal type 2O
autosomal dominant Charcot-Marie-Tooth disease type 2O
autosomal dominant axonal Charcot-Marie-Tooth disease type 2O
Charcot-Marie-Tooth disease axonal type 2O
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21.
Charcot-Marie-Tooth neuropathy type 2X
autosomal recessive axonal Charcot-Marie-Tooth disease type 2X
Charcot-Marie-Tooth disease axonal type 2X
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21.
CMT2N
Charcot-Marie-Tooth neuropathy axonal type 2N
autosomal dominant Charcot-Marie-Tooth disease type 2N
autosomal dominant axonal Charcot-Marie-Tooth disease type 2N
Charcot-Marie-Tooth disease axonal type 2N
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21.
CMT2V
Charcot-Marie-Tooth neuropathy type 2V
autosomal dominant Charcot-Marie-Tooth disease type 2V
autosomal dominant axonal Charcot-Marie-Tooth disease type 2V
Charcot-Marie-Tooth disease axonal type 2V
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene.
AR-CMT2B2
ARCMT2B
Autosomal recessive axonal CMT4C3
CMT2B2
Charcot-Marie-Tooth disease neuronal type 2B2
Charcot-Marie-Tooth neuropathy type 2B2
autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12.
CMT2CC
Charcot-Marie-Tooth neuropathy type 2CC
Charcot-Marie-Tooth disease axonal type 2CC
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MORC2 gene on chromosome 22q12.
CMT2Z
Charcot-Marie-Tooth neuropathy type 2Z
autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z
Charcot-Marie-Tooth disease axonal type 2Z
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.
CMT2C
Charcot-Marie-Tooth neuropathy type 2C
HMSN2C
autosomal cominant axonal Charcot-Marie-Tooth disease type 2C
autosomal dominant Charcot-Marie-Tooth disease type 2C
hereditary motor and sensory neuropathy type IIc
Charcot-Marie-Tooth disease axonal type 2C
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene.
CMT4C
Charcot-Marie-Tooth neuropathy type 4C
autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21.
CMT4J
autosomal recessive Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4J
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21.
CMT4A
Charcot-Marie-Tooth neuropathy type 4A
autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24.
CMT4D
Charcot-Marie-Tooth neuropathy type 4D
HMSN Lom type
HMSN-Lom
HMSN4D
HMSNL
autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D
hereditary motor and sensory neuropathy LOM type
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.
CMT4K
SURF1-related CMT4
SURF1-related Charcot-Marie-Tooth disease type 4
SURF1-related severe demyelinating Charcot-Marie-Tooth disease
autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K
autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K
A Leber congenital amaurosis that has_material_basis_in mutation in the LRAT gene on chromosome 4q31.
LCA14
A Leber congenital amaurosis that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21.3.
LCA15
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene.
CMT4B2
Charcot-Marie-Tooth neuropathy type 4B2
autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2).
CMT4B1
Charcot-Marie-Tooth neuropathy type 4B1
autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4).
CMT4H
Charcot-Marie-Tooth neuropathy type 4H
autosomal recessive Charcot-Marie-Tooth disease type 4H
autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the periaxin gene (PRX) on chromosome 19q13.
CMT4F
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q.
CMT4B3
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23.
CMT4E
Charcot-Marie-Tooth neuropathy type 4E
Neuropathy, congenital hypomyelinating, 1
autosomal recessive congenital hypomyelinating or amyelinating neuropathy
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22.
CMT4G
Charcot-Marie-Tooth neuropathy type 4G
HMSNR
autosomal recessive Charcot-Marie-Tooth disease type 4G
hereditary motor and sensory neuropathy Russe type
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2).
CMTDI1
CMTDIB
Charcot-Marie-Tooth neuropathy dominant intermediate B
DI-CMTB
Charcot-Marie-Tooth disease dominant intermediate B
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36.
CMTRIC
RI-CMT type C
RI-CMTC
autosomal recessive intermediate Charcot-Marie-Tooth disease type C
Charcot-Marie-Tooth disease recessive intermediate C
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the YARS gene on chromosome 1p35.
CMTDIC
Charcot-Marie-Tooth neuropathy dominant intermediate C
DI-CMTC
autosomal dominant intermediate Charcot-Marie-Tooth disease type C
Charcot-Marie-Tooth disease dominant intermediate C
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.
CMTDID
Charcot-Marie-Tooth neuropathy dominant intermediate D
DI-CMTD
autosomal dominant intermediate Charcot-Marie-Tooth disease type D
Charcot-Marie-Tooth disease dominant intermediate D
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21.
CMTRIA
Charcot-Marie-Tooth neuropathy recessive intermediate A
RI-CMTA
autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Charcot-Marie-Tooth disease recessive intermediate A
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in variation in the region 10q24.1-q25.1.
CMTDIA
Charcot-Marie-Tooth neuropathy dominant intermediate A
DI-CMTA
autosomal dominant intermediate Charcot-Marie-Tooth disease type A
Charcot-Marie-Tooth disease dominant intermediate A
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24.
CMTRID
RI-CMT type D
autosomal recessive intermediate Charcot-Marie-Tooth disease type D
Charcot-Marie-Tooth disease recessive intermediate D
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23.
CMTRIB
Charcot-Marie-Tooth neuropathy recessive intermediate B
RI-CMTB
autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Charcot-Marie-Tooth disease recessive intermediate B
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32.
CMTDIE
Charcot-Marie-Tooth disease-nephropathy syndrome
Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis
autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Charcot-Marie-Tooth disease dominant intermediate E
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the GNB4 gene on chromosome 3q28.
CMTDIF
autosomal dominant intermediate Charcot-Marie-Tooth disease type F
Charcot-Marie-Tooth disease dominant intermediate F
A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the PDK3 gene on chromosome Xp22.
CMT6X
CMTX6
Charcot-Marie-Tooth neuropathy X-linked dominant 6
X-linked Charcot-Marie-Tooth disease type 6
Charcot-Marie-Tooth disease X-linked dominant 6
A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xp22.2.
CMTX2
Charcot-Marie-Tooth neuropathy X-linked recessive 2
X-linked Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease X-linked recessive 2
A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13.
CMT1X
CMTX1
Charcot-Marie-Tooth neuropathy X-linked dominant 1
X-linked Charcot-Marie-Tooth disease type 1
Charcot-Marie-Tooth disease X-linked dominant 1
A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22.
CMT5X
CMTX5
Charcot-Marie-Tooth neuropathy X-linked recessive 5
Rosenberg-Chutorian syndrome
X-linked Charcot-Marie-Tooth disease type 5
optic atrophy, polyneuropathy, and deafness
Charcot-Marie-Tooth disease X-linked recessive 5
A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xq26.
CMT3X
CMTX3
Charcot-Marie-Tooth neuropathy X-linked recessive 3
X-linked Charcot-Marie-Tooth disease type 3
Charcot-Marie-Tooth disease X-linked recessive 3
A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26.
CMT4X
CMTX4
Charcot-Marie-Tooth disease with deafness and mental retardation
Cowchock syndrome
NADMR
NAMSD
X-linked Charcot-Marie-Tooth disease type 4
axonal motor sensory neuropathy with deafness and mental retardation
Charcot-Marie-Tooth disease X-linked recessive 4
A cleft palate seen as an isolated malformation, distinct from cleft lip with or without cleft palate.
A cleft palate that is characterized as a fissure type embryopathy that affects in varying degrees the soft palate.
cleft velum
cleft velum palatinum
soft cleft palate
A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the LCA5 gene on chromosome 6q14.1.
LCA5
A Leber congenital amaurosis that has_material_basis_in mutation n the IMPDH1 gene on chromosome 7q31.3-q32.
LCA11
A Leber congenital amaurosis that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22.
LCA17
A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN5A gene on chromosome 3p22.
BRGDA1
A Brugada syndrome that has_material_basis_in heterozygous mutation in the GPD1L gene on chromosome 3p22.
BRGDA2
Brugada syndrome 2
A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the alpha-1C subunit of the L-type voltage-dependent calcium channel (CACNA1C) on chromosome 12p13.
BRGDA3
A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the beta-2 subunit of the voltage-dependent L-type calcium channel (CACNB2) on chromosome 10p12.
BRGDA4
A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN1B gene on chromosome 19q13.
BRGDA5
A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCNE3 gene on chromosome 11q13.
BRGDA6
A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN3B gene on chromosome 11q24.
BRGDA7
A Brugada syndrome that has_material_basis_in heterozygous mutation in the HCN4 gene on chromosome 15q24.
BRGDA8
A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCND3 gene on chromosome 1p13.
BRGDA9
A cataract that has_material_basis_in mutation in the region 14q22-q23.
CTRCT32
CTAA1
CTPP5
anterior polar cataract 1
posterior polar cataract 5
A cataract that has_material_basis_in variation in the region 1pter-p36.13.
CCV
CTRCT8
cataract, congenital, Volkmann type
A cataract that has_material_basis_in heterozygous mutation in the EPHA2 gene on chromosome 1p36.
CTRCT6
ARCC2
CTPP1
age related cortical cataract 2
posterior polar cataract 1
A cataract that has_material_basis_in variation in the region 1p34.3-p32.2.
CATC3
CTRCT34
autosomal recessive congenital cataract 3
cataract 34 multiple types with or without microcornea
A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21.
CTRCT1
Duffy linked cataract
cataract 1, multiple types, with or without microcornea
CAE1
CZP1
zonular pulverulent cataract 1
A cataract that has_material_basis_in variation in the region 2pter-p24.
cataract 29 coralliform
A cataract that has_material_basis_in mutation in the region 2p12.
CTRCT27
cataract 27 nuclear progressive
A cataract that has_material_basis_in heterozygous mutation in the gamma-D-crystallin gene (CRYGD) on chromosome 2q33.
CTRCT4
cataract 4 multiple types with or without microcornea
CCA3
congenital cataract cerulean type 3
A cataract that has_material_basis_in heterozygous mutation in the CRYGC gene on chromosome 2q33.
CTRCT2
cataract 2 multiple types with or without microcornea
A cataract that has_material_basis_in heterozygous mutation in the CRYGB gene on chromosome 2q34.
CTRCT39
autosomal dominant cataract 39 multiple types
A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35.
CTRCT42
A cataract that has_material_basis_in homozygous mutation in the FYCO1 gene on chromosome 3p21.3.
CATC2
CTRCT18
autosomal recessive congenital cataract 2
cataract 18 autosomal recessive
A cataract that has_material_basis_in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22.
CTRCT12
A cataract that has_material_basis_in heterozygous mutation in the CRYGS gene on chromosome 3q27.
CTRCT20
A cataract that has_material_basis_in heterozygous mutation in the WFS1 gene on chromosome 4p16.
CTRCT41
congenital nuclear type cataract 41
A cataract that has_material_basis_in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24.
CTRCT13
A cataract that has_material_basis_in homozygous mutation in the LEMD2 gene on chromosome 6p21.
CTRCT46
juvenilae cataract Hutterite type
A cataract that has_material_basis_in variation in the region 6p12-q12.
ARCC1
CTRCT28
age-related cortical cataract 1
A cataract that has_material_basis_in homozygous mutation in the AGK gene on chromosome 7q34.
CATC5
CTRCT38
autosomal recessive congenital cataract 5
A cataract that has_material_basis_in variation in the region 9q13-q22.
CTRCT26
A cataract that has_material_basis_in homozygous mutation in the TDRD7 gene on chromosome 9q22.33.
CATC4
CTRCT36
autosomal recessive congenital cataract 4
A cataract that has_material_basis_in heterozygous mutation in the VIM gene on chromosome 10p13.
CTRCT30
Dusty cataract
cataract 30 pulverulent
cataract Coppock-like
A cataract that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24.
CTRCT11
CPP4
CTPP4
posterior polar cataract 4
A cataract that has_material_basis_in heterozygous or homozygous mutation in the CRYAB gene on chromosome 11q.
CTRCT16
CTPP2
posterior polar cataract 2
A cataract that has_material_basis_in heterozygous mutation in the MIP gene on chromosome 12q13.
CTRCT15
A cataract that has_material_basis_in variation in the region 12q24.2-q24.3.
CTRCT37
CCA5
congenital cataract cerulean type 5
A cataract that has_material_basis_in heterozygous mutation in the gene encoding gap junction protein alpha-3 (GJA3) on chromosome 13q12.
CTRCT14
CAE3
CZP3
zonular pulverulent cataract 3
A cataract that has_material_basis_in variation in the region 15q21-q22.
CCSSO
CTRCT25
central pouch-like cataract with sutural opacities
central saccular cataract with sutural opacities
early-onset cataract with Y-shaped suture opacities
A cataract that has_material_basis_in heterozygous mutation in the gene that encodes heat-shock transcription factor-4 (HSF4) on chromosome 16q22.
CTRCT5
A cataract that has_material_basis_in heterozygous mutation in the MAF gene on chromosome 16q23.
CTRCT21
cataract 21 multiple types with or without microcornea
CCA4
congenital cataract Cerulean type 4
A cataract that has_material_basis_in variation in the region 17p13.
CTRCT24
CTAA2
anterior polar cataract 2
anterior polar cataract 24
A cataract that has_material_basis_in heterozygous mutation in the CRYBA1 gene on chromosome 17q11.
CTRCT10
CCZS
congenital zonular cataract with sutural opacities
A cataract that has_material_basis_in heterozygous mutation in the UNC45B gene on chromosome 17q12.
CTRCT43
A cataract that has_material_basis_in variation in the region 17q24.
CTRCT7
CCA1
Cerulean type cataract 7
congenital Cerulean type cataract 1
A cataract that has_material_basis_in variation in the region 19q13.
CATCN1
CTRCT35
autosomal recessive congenital nuclear cataract 1
cataract 35, congenital nuclear
A cataract that has_material_basis_in homozygous mutation in the SIPA1L3 gene on chromosome 19q13.
CTRCT45
A cataract that has_material_basis_in homozygous mutation in the LIM2 gene on chromosome 19q13.
CTRCT19
A cataract that has_material_basis_in homozygous mutation in the beaded filament structural protein-1 gene (BFSP1) on chromosome 20p12.
CTRCT33
cortical cataract 33
A cataract that has_material_basis_in heterozygous mutation in the CHMP4B gene on chromosome 20q11.
CTRCT31
CPP3
CTPP3
posterior polar cataract 3
A cataract that has_material_basis_in autosomal recessive or autosomal dominant inheritance of heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22.
CTRCT9
cataract 9 multiple types with or without microcornea
CATC1
autosomal recessive congenital cataract 1
A cataract that has_material_basis_in homozygous mutation in the LSS gene on chromosome 21q22.
CTRCT44
total early-onset cataract
A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B3 crystallin gene (CRYBB3) on chromosome 22q11.
CTRCT22
CATCN2
autosomal recessive congenital nuclear cataract 2
A cataract that has_material_basis_in heterozygous mutation in the beta-B2-crystallin gene (CRYBB2) on chromosome 22q11.
CTRCT3
cataract 3 multiple types with or without microcornea
CCA2
congenital Cerulean type cataract 2
A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B1 crystallin gene (CRYBB1) on chromosome 22q12.
CTRCT17
CATCN3
autosomal recessive congenital nuclear cataract 3
A cataract that has_material_basis_in heterozygous mutation in the crystallin beta-A4 gene (CRYBA4) on chromosome 22q12.
CTRCT23
lamellar cataract 23
A cataract that has_material_basis_in mutation in the NHS gene on chromosome Xp22.
CTRCT40
cataract 40 X-linked
cataract 40 with or without microcornea
A limb-girdle muscular dystrophy that has_material_basis_in autosomal dominant inheritance.
autosomal dominant limb-girdle muscular dystrophy
A limb-girdle muscular dystrophy has_material_basis_in autosomal recessive inheritance.
autosomal recessive limb-girdle muscular dystrophy
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15.
LGMD2A
Leyden-Moebius muscular dystrophy
limb-girdle muscular dystrophy due to calpain deficiency
muscular dystrophy, limb-girdle, type 2A
pelvofemoral muscular dystrophy
primary calpainopathy
autosomal recessive limb-girdle muscular dystrophy type 2A
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13.
LGMD2B
LGMD3
limb-girdle muscular dystrophy due to dysferlin deficiency
limb-girdle muscular dystrophy type 3
autosomal recessive limb-girdle muscular dystrophy type 2B
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12.
DMDA1
LGMD2C
Maghrebian myopathy
SCARMD
autosomal recessive Duchenne-like muscular dystrophy type 1
deficiency of sarcoglycan gamma
gamma-sarcoglycanopathy
limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency
muscular dystrophy, limb-girdle, type 2C
severe childhood autosomal recessive muscular dystrophy North African type
autosomal recessive limb-girdle muscular dystrophy type 2C
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA) on chromosome 17q.
Alpha-sarcoglycanopathy
DMDA2
Duchenne-like autosomal recessive muscular dystrophy type 2
LGMD2D
muscular dystrophy, limb-girdle, type 2D
primary adhalinopathy
autosomal recessive limb-girdle muscular dystrophy type 2D
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12.
Beta-sarcoglycanopathy
LGMD2E
Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency
muscular dystrophy, limb-girdle, type 2E
autosomal recessive limb-girdle muscular dystrophy type 2E
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the sarcoglycan-delta gene (SGCD).
LGMD2F
delta-sarcoglycanopathy
limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency
autosomal recessive limb-girdle muscular dystrophy type 2F
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding telethonin (TCAP).
LGMD2G
limb-girdle muscular dystrophy due to telethonin deficiency
muscular dystrophy, limb-girdle, type 2G
autosomal recessive limb-girdle muscular dystrophy type 2G
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q.
LGMD2H
limb-girdle muscular dystrophy due to TRIM32 deficiency
muscular dystrophy Hutterite type
sarcotubular myopathy
autosomal recessive limb-girdle muscular dystrophy type 2H
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN).
LGMD2J
muscular dystrophy, limb-girdle, type 2J
autosomal recessive limb-girdle muscular dystrophy type 2J
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14.
LGMD2L
muscular dystrophy, limb-girdle, type 2L
autosomal recessive limb-girdle muscular dystrophy type 2L
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene.
LGMD2Q
autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency
muscular dystrophy, limb-girdle, type 2Q
autosomal recessive limb-girdle muscular dystrophy type 2Q
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35.
LGMD2S
muscular dystrophy, limb-girdle, type 2S
autosomal recessive limb-girdle muscular dystrophy type 2S
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in compound heterozygous mutation in the LIM zinc finger domain containing 2 gene (LIMS2) on chromosome 2q14.
LGMD2W
muscular dystrophy, limb-girdle, type 2W
autosomal recessive limb-girdle muscular dystrophy type 2W
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24.
LGMD2Y
autosomal recessive muscular dystrophy due to LAP1B deficiency
autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency
muscular dystrophy with progressive weakness, distal contractures and rigid spine
muscular dystrophy, limb-girdle, type 2Y
autosomal recessive limb-girdle muscular dystrophy type 2Y
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21.
LGMD2X
muscular dystrophy, limb-girdle, type 2X
autosomal recessive limb-girdle muscular dystrophy type 2X
A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32.
LCA10
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34.
LGMD2O
MDDGC3
muscular dystrophy-dystroglycanopathy (limb-girdle) type C3
muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related
autosomal recessive limb-girdle muscular dystrophy type 2O
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21.
LGMD2P
MDDGC9
muscular dystrophy-dystroglycanopathy (limb-girdle) type C9
muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related
autosomal recessive limb-girdle muscular dystrophy type 2P
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21.
LGMD2T
MDDGC14
muscular dystrophy limb-girdle type 2T
muscular dystrophy-dystroglycanopathy (limb-girdle) type C14
muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related
autosomal recessive limb-girdle muscular dystrophy type 2T
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21.
LGMD2U
MDDGC7
autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
muscular dystrophy limb-girdle type 2U
muscular dystrophy-dystroglycanopathy (limb-girdle) type C7
autosomal recessive limb-girdle muscular dystrophy type 2U
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31.
LGMD2M
MDDGC4
muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4
autosomal recessive limb-girdle muscular dystrophy type 2M
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1).
LGMD2K
MDDGC1
limb-girdle muscular dystrophy-intellectual disability syndrome
muscular dystrophy limb-girdle type 2K
muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1
autosomal recessive limb-girdle muscular dystrophy type 2K
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3.
LGMD2N
MDDGC2
muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2
muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related
autosomal recessive limb-girdle muscular dystrophy type 2N
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3.
LGMD2I
Limb-girdle muscular dystrophy due to FKRP deficiency
MDDGC5
muscular dystrophy limb-girdle type 2I
muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5
muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related
autosomal recessive limb-girdle muscular dystrophy type 2I
An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in with variation in the region 3p25.1-p23.
LGMD1H
muscular dystrophy limb-girdle type 1H
autosomal dominant limb-girdle muscular dystrophy type 1H
An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32.
LGMD1F
autosomal dominant limb-girdle muscular dystrophy type 1F
muscular dystrophy limb-girdle type 1F
autosomal dominant limb-girdle muscular dystrophy type 2
An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36.
LGMD1D
autosomal dominant limb-girdle muscular dystrophy type 1E
muscular dystrophy limb-girdle type 1D
muscular dystrophy limb-girdle type 1E
autosomal dominant limb-girdle muscular dystrophy type 1
An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the HNRNPDL gene on chromosome 4q21.
LGMD1G
autosomal dominant limb-girdle muscular dystrophy type 1G
muscular dystrophy limb-girdle type 1G
autosomal dominant limb-girdle muscular dystrophy type 3
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12.
CMH1
cardiomyopathy, familial hypertrophic 1
hypertrophic cardiomyopathy 19
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the cardiac troponin-T2 gene (TNNT2).
CMH2
cardiomyopathy familial hypertrophic 2
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the alpha-tropomyosin gene (TPM1) on chromosome 15q22.
CMH3
cardiomyopathy familial hypertrophic 3
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11.
CMH4
cardiomyopathy, familial hypertrophic, 4
A familial hypertrophic cardiomyopathy associated that has_material_basis_in region 7p12.1-q21 variation.
CMH21
cardiomyopathy familial hypertrophic 21
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2).
CMH6
cardiomyopathy, familial hypertrophic 6
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.4.
CMH7
cardiomyopathy, familial hypertrophic 7
A familial hypertrophic cardiomyopathy that has_material_basis_in homozygous or heterozygous mutation in the MYL3 gene.
cardiomyopathy hypertrophic mid-left ventricular chamber type 1
cardiomyopathy, familial hypertrophic, 8
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31.
CMH9
cardiomyopathy, familial hypertrophic, 9
A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYL2 gene.
CMH10
cardiomyopathy, familial hypertrophic, 10
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14.
CMH11
cardiomyopathy familial hypertrophic 11
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the CSRP3 gene on chromosome 11p15.
CMH12
cardiomyopathy familial hypertrophic 12
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNC1 gene on chromosome 3p21.
CMH13
cardiomyopathy familial hypertrophic 13
A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYH6 gene.
CMH14
cardiomyopathy familial hypertrophic 14
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the vinculin gene (VCL) on chromosome 10q22.
CMH15
cardiomyopathy familial hypertrophic 15
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYOZ2 gene on chromosome 4q26.
CMH16
cardiomyopathy familial hypertrophic 16
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the junctophilin gene (JPH2) on chromosome 20q12.
CMH17
cardiomyopathy familial hypertrophic 17
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding phospholamban (PLN) on chromosome 6q22.1.
CMH18
cardiomyopathy familial hypertrophic 18
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the NEXN gene on chromosome 1p31.1.
CMH20
cardiomyopathy familial hypertrophic 20
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32.
CMH26
cardiomyopathy familial hypertrophic 26
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TCAP gene on chromosome 17q12.
CMH25
cardiomyopathy familial hypertrophic 25
A Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11.
LCA6
A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3.
LCA13
A Leber congenital amaurosis that has_material_basis_in mutation in the SPATA7 gene on chromosome 14q31.
LCA3
A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and that has_material_basis_in mutation in the AIPL1 gene on chromosome 17p13.
LCA4
A Leber congenital amaurosis that has_material_basis_in mutation in the CRX gene on chromosome 19q13.
LCA7
An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.
OI1
osteogenesis imperfecta type I
An osteogenesis imperfecta found in a single South African family.
osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures
An osteogenesis imperfecta that has_material_basis_in mutation in the P3H1 gene on chromosome 1p34.2.
OI8
osteogenesis imperfecta type VIII
An osteogenesis imperfecta that has_material_basis_in mutation in the CRTAP gene on chromosome 3p22.
OI7
osteogenesis imperfecta type VII
An osteogenesis imperfecta that has_material_basis_in mutation in the SPARC gene on chromosome 5q33.
OI17
osteogenesis imperfecta type XVII
An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.
OI3
osteogenesis imperfecta type III
progressively deforming osteogenesis imperfecta with normal sclera
An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.
OI4
osteogenesis imperfecta type IV
osteogenesis imperfecta with normal sclera
An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.
OI2
Vrolik type of osteogenesis imperfecta
osteogenesis imperfecta type II
perinatal lethal osteogenesis imperfecta congenita
An osteogenesis imperfecta that has_material_basis_in mutation in the BMP1 gene on chromosome 8p21.
OI13
osteogenesis imperfecta type XIII
An osteogenesis imperfecta that has_material_basis_in mutation in the TMEM38B gene on chromosome 9q31.
OI14
osteogenesis imperfecta type XIV
An osteogenesis imperfecta that has_material_basis_in mutation in the IFITM5 gene on chromosome 11p15.
OI5
osteogenesis imperfecta type V
An osteogenesis imperfecta that has_material_basis_in contiguous gene deletion on chromosome 11p11.
OI16
chromosome 11p11.2 deletion syndrome 91.3-KB
osteogenesis imperfecta type XVI
An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINH gene on chromosome 11q13.
OI10
osteogenesis imperfecta type X
An osteogenesis imperfecta that has_material_basis_in mutation in the WNT1 gene on chromosome 12q13.
OI15
osteogenesis imperfecta type XV
An osteogenesis imperfecta that has_material_basis_in mutation in the SP7 gene on chromosome 12q13.
OI12
osteogenesis imperfecta type XII
An osteogenesis imperfecta that has_material_basis_in mutation in the PPIB gene on chromosome 15q22.
OI9
osteogenesis imperfecta type IX
An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINF1 gene on chromosome 17p13.3.
OI6
osteogenesis imperfecta type VI
An osteogenesis imperfecta that has_material_basis_in mutation in the FKBP10 gene on chromosome 17q21.
OI11
osteogenesis imperfecta type XI
A retinitis pigmentosa that has_material_basis_in mutation in the DHDDS gene on chromosome 1p36.11.
RP59
A retinitis pigmentosa that has_material_basis_in mutation in the RPE65 gene on chromosome 1p31.
RP20
A retinitis pigmentosa that has_material_basis_in mutation in the ABCA4 gene on chromosome 1p22.
RP19
A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 1p21.3-p13.3.
RP32
A retinitis pigmentosa that has_material_basis_in mutation in the PRPF3 gene on chromosome 1q21.
RP18
A retinitis pigmentosa that has_material_basis_in mutation in the SEMA4A gene on chromosome 1q22.
RP35
A retinitis pigmentosa that has_material_basis_in mutation in the CRB1 gene on chromosome 1q31.3.
RP12
A retinitis pigmentosa that has_material_basis_in mutation in the NEK2 gene on chromosome 1q32.
RP67
A retinitis pigmentosa that has_material_basis_in mutation in the USH2A gene on chromosome 1q41.
RP39
A retinitis pigmentosa that has_material_basis_in mutation in the AGBL5 gene on chromosome 2p23.
RP75
A retinitis pigmentosa that has_material_basis_in mutation in the ZNF513 gene on chromosome 2p23.
RP58
A retinitis pigmentosa that has_material_basis_in mutation in the IFT172 gene on chromosome 2p23.
RP71
A retinitis pigmentosa that has_material_basis_in mutation in the C2ORF71 gene on chromosome 2p23.
RP54
A retinitis pigmentosa that has_material_basis_in mutation in the FAM161A gene on chromosome 2p15.
RP28
A retinitis pigmentosa that has_material_basis_in mutation in the SNRNP200 gene on chromosome 2q11.
RP33
A retinitis pigmentosa that has_material_basis_in mutation in the MERTK gene on chromosome 2q13.
RP38
A retinitis pigmentosa that has_material_basis_in mutation in the CERKL gene on chromosome 2q31.
RP26
A retinitis pigmentosa that has_material_basis_in mutation in the SAG gene on chromosome 2q37.
RP47
A retinitis pigmentosa that has_material_basis_in mutation in the ARL6 gene on chromosome 3q11.2.
RP55
A retinitis pigmentosa that has_material_basis_in mutation in the IMPG2 gene on chromosome 3q12.3.
RP56
A retinitis pigmentosa that has_material_basis_in mutation in the RHO gene on chromosome 3q22.
RP4
A retinitis pigmentosa that has_material_basis_in mutation in the CLRN1 gene on chromosome 3q25.
RP61
A retinitis pigmentosa that has_material_basis_in mutation in the SLC7A14 gene on chromosome 3q26.
RP68
A retinitis pigmentosa that has_material_basis_in mutation in the PDE6B gene on chromosome 4p16.
RP40
A retinitis pigmentosa that has_material_basis_in mutation in the PROM1 gene on chromosome 4p15.
RP41
A retinitis pigmentosa that has_material_basis_in mutation in the CNGA1 gene on chromosome 4p12.
RP49
A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 4q32-q34.
RP29
A retinitis pigmentosa that has_material_basis_in mutation in the PDE6A gene on chromosome 5q31-q33.
RP43
A retinitis pigmentosa that has_material_basis_in mutation in the MAK gene on chromosome 6p24.2.
RP62
A retinitis pigmentosa that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21.
RP14
A retinitis pigmentosa that has_material_basis_in mutation in the GUCA1B gene on chromosome 6p21.1.
RP48
A retinitis pigmentosa that has_material_basis_in mutation in the PRPH2 gene on chromosome 6p21.
RP7
A retinitis pigmentosa that has_material_basis_in mutation in the EYS gene on chromosome 6q12.
RP25
A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 6q23.
RP63
A retinitis pigmentosa that has_material_basis_in mutation in the KLHL7 gene on chromosome 7p15.3.
RP42
A retinitis pigmentosa that has_material_basis_in mutation in the RP9 gene on chromosome 7p14.
RP9
A retinitis pigmentosa that has_material_basis_in mutation in the IMPDH1 gene on chromosome 7q32.
RP10
A retinitis pigmentosa that has_material_basis_in mutation in the HGSNAT gene on chromosome 8p11.
RP73
A retinitis pigmentosa that has_material_basis_in mutation in the RP1 gene on chromosome 8q12.
RP1
A retinitis pigmentosa that has_material_basis_in mutation in the TOPORS gene on chromosome 9p21.
RP31
A retinitis pigmentosa that has_material_basis_in mutation in the PRPF4 gene on chromosome 9q32.
RP70
A retinitis pigmentosa that has_material_basis_in mutation in the RBP3 gene on chromosome 10q11.
RP66
A retinitis pigmentosa that has_material_basis_in mutation in the RGR gene on chromosome 10q23.
RP44
A retinitis pigmentosa that has_material_basis_in mutation in the ZNF408 gene on chromosome 11p11.
RP72
A retinitis pigmentosa that has_material_basis_in mutation in the BEST1 gene on chromosome 11q13.
RP50
A retinitis pigmentosa that has_material_basis_in mutation in the NRL gene on chromosome 14q11.
RP27
A retinitis pigmentosa that has_material_basis_in mutation in the TTC8 gene on chromosome 14q31.
RP51
A retinitis pigmentosa that has_material_basis_in mutation in the NR2E3 gene on chromosome 15q23.
RP37
A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 16p12.3-p12.1.
RP22
A retinitis pigmentosa that has_material_basis_in mutation in the BBS2 gene on chromosome 16q13.
RP74
A retinitis pigmentosa that has_material_basis_in mutation in the CNGB1 gene on chromosome 16q13.
RP45
A retinitis pigmentosa that has_material_basis_in mutations in the PRPF8 gene on chromosome 17p13.3.
RP13
A retinitis pigmentosa that has_material_basis_in mutation in the CA4 gene on chromosome 17q23.1.
RP17
A retinitis pigmentosa that has_material_basis_in mutation in the PRCD gene on chromosome 17q25.
RP36
A retinitis pigmentosa that has_material_basis_in mutation in the FSCN2 gene on chromosome 17q25.
RP30
A retinitis pigmentosa that has_material_basis_in mutation in the PDE6G gene on chromosome 17q25.3.
RP57
A retinitis pigmentosa that has_material_basis_in mutation in the PRPF31 gene on chromosome 19q13.
RP11
A retinitis pigmentosa that has_material_basis_in mutation in the IDH3B on chromosome 20p13.
RP46
A retinitis pigmentosa that has_material_basis_in mutation in the KIZ gene on chromosome 20p11.
RP69
A retinitis pigmentosa that has_material_basis_in mutation in the PRPF6 gene on chromosome 20q13.33.
RP60
A retinitis pigmentosa that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22.
RP23
A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xp21.3-p21.2.
RP6
A retinitis pigmentosa that has_material_basis_in mutation in the RPGR gene on chromosome Xp11.
RP3
A retinitis pigmentosa that has_material_basis_in mutation in the RP2 gene on chromosome Xp11.3.
RP2
A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq26-q27.
RP24
A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq28.
RP34
A retinitis pigmentosa that has_material_basis_in variation on the Y chromosome.
A retinitis pigmentosa that has_material_basis_in mutation in the ARL2BP gene on chromosome 16q13.
retinitis pigmentosa with or without situs inversus
A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life.
dominant pericentral pigmentary retinopathy
A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life.
senile retinitis pigmentosa
A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy.
autosomal recessive pericentral pigmentary retinopathy
A dilated cardiomyopathy that has_material_basis_in mutation in the LDB3 gene on chromosome 10q23.2.
CMDC1
dilated cardiomyopathy 1C with or without left ventricular noncompaction
A dilated cardiomyopathy that has_material_basis_in mutation in the NEXN gene on chromosome 1p31.1.
CMD1CC
A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21.
CDCD1
dilated cardiomyopathy with conduction defect 1
familial dilated cardiomyopathy with conduction defect due to LMNA mutation
A dilated cardiomyopathy that has_material_basis_in mutation in the TNNT2 gene on chromosome 1q32.
CMD1D
A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN2 gene on chromosome 1q31-q42.
CMD1V
A dilated cardiomyopathy that has_material_basis_in mutation in the ACTN2 gene on chromosome 1q43.
CMD1AA
dilated cardiomyopathy 1AA with or without left ventricular noncompaction
A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22.
dilated cardiomyopathy with conduction defect
A dilated cardiomyopathy that has_material_basis_in mutation in the TTN gene on chromosome 2q31.
CMD1G
A dilated cardiomyopathy that has_material_basis_in mutation in the DES gene on chromosome 2q35.
CMD1I
A dilated cardiomyopathy that has_material_basis_in mutation in the RAF1 gene on chromosome 3p25.
CMD1NN
A dilated cardiomyopathy that has_material_basis_in mutation in the SCN5A gene on chromosome 3p22.2.
CDCD2
CMD1E
dilated cardiomyopathy with conduction defect 2
dilated cardiomyopathy with conduction disorder and arrhythmia
A dilated cardiomyopathy that has_material_basis_in mutation in the TNNC1 gene on chromosome 3p.
CMD1Z
A dilated cardiomyopathy that has_material_basis_in mutation in the SDHA gene on chromosome 5p15.33.
CMD1GG
A dilated cardiomyopathy that has_material_basis_in mutations in the SGCD gene on chromosome 5q33.2-q33.3.
CMD1L
A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 6q12-q16.
CMD1K
A dilated cardiomyopathy that has_material_basis_in mutation in the LAMA4 gene on chromosome 6q21.
CMD1JJ
A dilated cardiomyopathy that has_material_basis_in mutation in the PLN gene on chromosome 6q22.
CMD1P
A dilated cardiomyopathy that has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.2.
CMD1J
autosomal dominant dilated cardiomyopathy with sensorineural hearing loss
neurosensory deafness with dilated cardiomyopathy
neurosensory hearing loss with dilated cardiomyopathy
sensorineural deafness with dilated cardiomyopathy
sensorineural hearing loss with dilated cardiomyopathy
A dilated cardiomyopathy that has_material_basis_in mutation in the GATAD1 gene on chromosome 7q21.
CMD2B
A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 7q22.3-q31.1.
CMD1Q
A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 9q13.
A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31.
CMD1X
dilated cardiomyopathy with mild or no proximal muscle weakness
A dilated cardiomyopathy that has_material_basis_in mutation in the MYPN gene on chromosome 10q21.
CMD1KK
A dilated cardiomyopathy that has_material_basis_in mutation in the VCL gene on chromosome 10q22.2.
CMD1W
A dilated cardiomyopathy that has_material_basis_in mutation in the RBM20 gene on chromosome 10q25.
CMD1DD
A dilated cardiomyopathy that has_material_basis_in mutation in the BAG3 gene on chromosome 10q26.11.
CMD1HH
A dilated cardiomyopathy that has_material_basis_in mutation in the CSRP3 gene on chromosome 11p15.
CMD1M
A dilated cardiomyopathy that has_material_basis_in mutation in the CRYAB gene on chromosome 11q23.
CMD1II
A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1.
CMD1O
dilated cardiomyopathy with ventricular tachycardia
A dilated cardiomyopathy that has_material_basis_in mutation in the TMPO gene on chromosome 12q22.
CMD1T
A dilated cardiomyopathy that has_material_basis_in mutation in the MYH6 gene on chromosome 14q11.2.
CMD1EE
A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12.
CMD1S
A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN1 gene on chromosome 14q24.3.
CMD1U
A dilated cardiomyopathy that has_material_basis_in mutation in the ACTC1 gene on chromosome 15q14.
CMD1R
A dilated cardiomyopathy that has_material_basis_in mutation in the TPM1 gene on chromosome 15q22.1.
CMD1Y
A dilated cardiomyopathy that has_material_basis_in mutation the DSG2 gene on chromosome 18q12.1.
CMD1BB
A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13.42.
CMD1FF
A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13.
CMD2A
A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21, without skeletal muscle weakness or wasting.
CMD3B
DMD-related dilated cardiomyopathy
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GRXCR2 gene on chromosome 5q32.
DFNB101
autosomal recessive deafness 101
autosomal recessive nonsyndromic deafness 101
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the EPS8 gene on chromosome 12p12.
DFNB102
autosomal recessive deafness 102
autosomal recessive nonsyndromic deafness 102
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CLIC5 gene on chromosome 6p21.
DFNB103
autosomal recessive deafness 103
autosomal recessive nonsyndromic deafness 103
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the FAM65B gene on chromosome 6p22.
DFNB104
autosomal recessive deafness 104
autosomal recessive nonsyndromic deafness 104
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CDH23 gene on chromosome 10q22.
DFNB12
autosomal recessive deafness 12
autosomal recessive nonsyndromic deafness 12
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 7q34-q36.
DFNB13
autosomal recessive deafness 13
autosomal recessive nonsyndromic deafness 13
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S554 and D7S2459 in the chromosome region 7q31.
DFNB14
autosomal recessive deafness 14
autosomal recessive nonsyndromic deafness 14
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GIPC3 gene on chromosome 19p13.
DFNB15
DFNB72
DFNB95
autosomal recessive deafness 15
autosomal recessive deafness 72
autosomal recessive deafness 95
autosomal recessive nonsyndromic deafness 15
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the STRC gene on chromosome 15q15.
DFNB16
autosomal recessive deafness 16
autosomal recessive nonsyndromic deafness 16
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S2453 and D7S525 in the chromosome region 7q31.
DFNB17
autosomal recessive deafness 17
autosomal recessive nonsyndromic deafness 17
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the USH1C gene on chromosome 11p15.
DFNB18A
autosomal recessive deafness 18A
autosomal recessive nonsyndromic deafness 18A
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOG gene on chromosome 11p15.
DFNB18B
autosomal recessive deafness 18B
autosomal recessive nonsyndromic deafness 18B
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12.
DFNB1A
autosomal recessive deafness 1A
autosomal recessive nonsyndromic deafness 1A
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB6 gene on chromosome 13q12.
DFNB1B
autosomal recessive deafness 1B
autosomal recessive nonsyndromic deafness 1B
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MYO7A gene on chromosome 11q13.
DFNB2
autosomal recessive deafness 2
autosomal recessive nonsyndromic deafness 2
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11q25-qter.
DFNB20
autosomal recessive deafness 20
autosomal recessive nonsyndromic deafness 20
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23.3.
DFNB21
autosomal recessive deafness 21
autosomal recessive nonsyndromic deafness 21
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOA gene on chromosome 16p12.
DFNB22
autosomal recessive deafness 22
autosomal recessive nonsyndromic deafness 22
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the PCDH15 gene on chromosome 10q21.
DFNB23
autosomal recessive deafness 23
autosomal recessive nonsyndromic deafness 23
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the RDX gene on chromosome 11q22.
DFNB24
autosomal recessive deafness 24
autosomal recessive nonsyndromic deafness 24
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the GRXCR1 gene on chromosome 4p13.
DFNB25
autosomal recessive deafness 25
autosomal recessive nonsyndromic deafness 25
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q31.
DFNB26
autosomal recessive deafness 26
autosomal recessive nonsyndromic deafness 26
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q31.
DFNB27
autosomal recessive deafness 27
autosomal recessive nonsyndromic deafness 27
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TRIOBP gene on chromosome 22q13.
DFNB28
autosomal recessive deafness 28
autosomal recessive nonsyndromic deafness 28
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CLDN14 gene on chromosome 21q22.
DFNB29
autosomal recessive deafness 29
autosomal recessive nonsyndromic deafness 29
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the MYO15A gene on chromosome 17p11.
DFNB3
NRSD3
autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3
autosomal recessive nonsyndromic deafness 3
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutations in the MYO3A gene on chromosome 10p12.1.
DFNB30
autosomal recessive deafness 30
autosomal recessive nonsyndromic deafness 30
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the WHRN gene on chromosome 9q32.
DFNB31
autosomal recessive deafness 31
autosomal recessive nonsyndromic deafness 31
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and male infertility in some affeted men that has_material_basis_in mutation in CDC14A on chromosome 1p21.2.
DFNB32
autosomal recessive deafness 105
autosomal recessive deafness 32
hearing impairment infertile male syndrome
autosomal recessive nonsyndromic deafness 32
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 10p11.23-q21.1.
DFNB33
autosomal recessive deafness 33
autosomal recessive nonsyndromic deafness 33
An autosomal recessive nonsyndromic deafness that is characterized severe to profound hearing loss and has_material_basis_in mutation in the ESRRB gene on chromosome 14q24.
DFNB35
autosomal recessive deafness 35
autosomal recessive nonsyndromic deafness 35
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the ESPN gene on chromosome 1p36.
DFNB36
autosomal recessive deafness 36
autosomal recessive nonsyndromic deafness 36
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14.
DFNB37
autosomal recessive deafness 37
autosomal recessive nonsyndromic deafness 37
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6q26-q27.
DFNB38
autosomal recessive deafness 38
autosomal recessive nonsyndromic deafness 38
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, downsloping hearing loss and has_material_basis_in mutation in the HGF gene on chromosome 7q21.
DFNB39
autosomal recessive deafness 39
autosomal recessive nonsyndromic deafness 39
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SLC26A4 gene on chromosome 7q22.
DFNB4
autosomal recessive deafness 4 with enlarged vestibular aqueduct
autosomal recessive nonsyndromic deafness 4
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 22q11.21-q12.1.
DFNB40
autosomal recessive deafness 40
autosomal recessive nonsyndromic deafness 40
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ILDR1 gene on chromosome 3q13.
DFNB42
autosomal recessive deafness 42
autosomal recessive nonsyndromic deafness 42
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ADCY1 gene on chromosome 7p12.
DFNB44
autosomal recessive deafness 44
autosomal recessive nonsyndromic deafness 44
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1q43-q44.
DFNB45
autosomal recessive deafness 45
autosomal recessive nonsyndromic deafness 45
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 18p11.32-p11.31.
DFNB46
autosomal recessive deafness 46
autosomal recessive nonsyndromic deafness 46
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p25.1-p24.3.
DFNB47
autosomal recessive deafness 47
autosomal recessive nonsyndromic deafness 47
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CIB2 gene on chromosome 15q25.
DFNB48
autosomal recessive deafness 48
autosomal recessive nonsyndromic deafness 48
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, stable hearing loss and has_material_basis_in mutation in the MARVELD2 gene on chromosome 5q13.
DFNB49
autosomal recessive deafness 49
autosomal recessive nonsyndromic deafness 49
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q12.
DFNB5
autosomal recessive deafness 5
autosomal recessive nonsyndromic deafness 5
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p13-p12.
DFNB51
autosomal recessive deafness 51
autosomal recessive nonsyndromic deafness 51
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21.
DFNB53
autosomal recessive deafness 53
autosomal recessive nonsyndromic deafness 53
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.2.
DFNB55
autosomal recessive deafness 55
autosomal recessive nonsyndromic deafness 55
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the DFNB59 gene on chromosome 2q31.
DFNB59
autosomal recessive deafness 59
autosomal recessive nonsyndromic deafness 59
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMIE gene on chromosome 3p21.
DFNB6
autosomal recessive deafness 6
autosomal recessive nonsyndromic deafness 6
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the SLC26A5 gene on chromosome 7q22.
DFNB61
autosomal recessive deafness 61
autosomal recessive nonsyndromic deafness 61
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 12p13.2-p11.23.
DFNB62
autosomal recessive deafness 62
autosomal recessive nonsyndromic deafness 62
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LRTOMT gene on chromosome 11q13.
DFNB63
autosomal recessive deafness 63
autosomal recessive nonsyndromic deafness 63
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 20q13.2-q13.3.
DFNB65
autosomal recessive deafness 65
autosomal recessive nonsyndromic deafness 65
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the DCDC2 gene on chromosome 6p22.
DFNB66
autosomal recessive deafness 66
autosomal recessive nonsyndromic deafness 66
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LHFPL5 gene on chromosome 6p21.
DFNB67
autosomal recessive deafness 67
autosomal recessive nonsyndromic deafness 67
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the S1PR2 gene on chromosome 19p13.
DFNB68
autosomal recessive deafness 68
autosomal recessive nonsyndromic deafness 68
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21.
DFNB11
DFNB7
autosomal recessive deafness 7
autosomal recessive nonsyndromic deafness 7
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the PNPT1 gene on chromosome 2p16.
DFNB70
autosomal recessive deafness 70
autosomal recessive nonsyndromic deafness 70
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 8p22-p21.3.
DFNB71
autosomal recessive deafness 71
autosomal recessive nonsyndromic deafness 71
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MSRB3 gene on chromosome 12q14.
DFNB74
autosomal recessive deafness 74
autosomal recessive nonsyndromic deafness 74
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with high frequency, progressive hearing loss and has_material_basis_in mutation in the SYNE4 gene on chromosome 19q13.
DFNB76
autosomal recessive deafness 76
autosomal recessive nonsyndromic deafness 76
An autosomal recessive nonsyndromic deafness that is characterized by postlingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the LOXHD1 gene on chromosome 18q21.
DFNB77
autosomal recessive deafness 77
autosomal recessive nonsyndromic deafness 77
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TPRN gene on chromosome 9q34.
DFNB79
autosomal recessive deafness 79
autosomal recessive nonsyndromic deafness 79
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TMPRSS3 gene on chromosome 21q22.
DFNB10
DFNB8
NRSD8
autosomal recessive deafness 10
autosomal recessive deafness 8
childhood-onset neurosensory autosomal recessive deafness 8
neurosensory nonsyndromic recessive deafness 8
autosomal recessive nonsyndromic deafness 8
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p23-p21.2.
DFNB83
autosomal recessive deafness 83
autosomal recessive nonsyndromic deafness 83
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the PTPRQ gene on chromosome 12q21.
DFNB84A
autosomal recessive deafness 84A
autosomal recessive deafness 84A with vestibular dysfunction
autosomal recessive nonsyndromic deafness 84A
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOGL gene on chromosome 12q21.
DFNB84B
autosomal recessive deafness 84B
autosomal recessive nonsyndromic deafness 84B
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 17p12-q11.2.
DFNB85
autosomal recessive deafness 85
autosomal recessive nonsyndromic deafness 85
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13.
DFNB86
autosomal recessive deafness 86
autosomal recessive nonsyndromic deafness 86
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ELMOD3 gene on chromosome 2p11.
DFNB88
autosomal recessive deafness 88
autosomal recessive nonsyndromic deafness 88
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the KARS gene on chromosome 16q23.
DFNB89
autosomal recessive deafness 89
autosomal recessive nonsyndromic deafness 89
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOF gene on chromosome 2p23.
DFNB9
NRSD9
autosomal recessive deafness 9
neurosensory nonsyndromic recessive deafness 9
autosomal recessive nonsyndromic deafness 9
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SERPINB6 gene on chromosome 6p25.
DFNB91
autosomal recessive deafness 91
autosomal recessive nonsyndromic deafness 91
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CABP2 gene on chromosome 11q13.
DFNB93
autosomal recessive deafness 93
autosomal recessive nonsyndromic deafness 93
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1p36.31-p36.13.
DFNB96
autosomal recessive deafness 96
autosomal recessive nonsyndromic deafness 96
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MET gene on chromosome 7q31.
DFNB97
autosomal recessive deafness 97
autosomal recessive nonsyndromic deafness 97
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TSPEAR gene on chromosome 21q22.
DFNB98
autosomal recessive deafness 98
autosomal recessive nonsyndromic deafness 98
An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31.
DFNA1
Konigsmark syndrome
LFHL1
autosomal dominant deafness 1
autosomal dominant deafness 1, with or without thrombocytopenia
hereditary low frequency hearing loss 1
autosomal dominant nonsyndromic deafness 1
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the third or forth decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.
DFNA10
autosomal dominant deafness 10
autosomal dominant nonsyndromic deafness 10
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the MYO7A gene on chromosome 11q13.
DFNA11
autosomal dominant deafness 11
autosomal dominant nonsyndromic deafness 11
An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23.
DFNA12
DFNA8
autosomal dominant deafness 12
autosomal dominant deafness 8
autosomal dominant nonsyndromic deafness 12
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade of life with mid-frequency hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21.
DFNA13
autosomal dominant deafness 13
autosomal dominant nonsyndromic deafness 13
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the POU4F3 gene on chromosome 5q32.
DFNA15
autosomal dominant deafness 15
autosomal dominant nonsyndromic deafness 15
An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q24.3.
DFNA16
autosomal dominant deafness 16
autosomal dominant nonsyndromic deafness 16
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYH9 gene on chromosome 22q12.
DFNA17
autosomal dominant deafness 17
autosomal dominant nonsyndromic deafness 17
An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 3q22.
DFNA18
autosomal dominant deafness 18
autosomal dominant nonsyndromic deafness 18
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the ACTG1 gene on chromosome 17q25.
DFNA20
DFNA26
autosomal dominant deafness 20
autosomal dominant nonsyndromic deafness 20
An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p24.1-p22.3.
DFNA21
autosomal dominant deafness 21
autosomal dominant nonsyndromic deafness 21
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14.
DFNA22
autosomal dominant deafness 22
autosomal dominant nonsyndromic deafness 22
An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the SIX1 gene on chromosome 14q23.
DFNA23
autosomal dominant deafness 23
autosomal dominant nonsyndromic deafness 23
An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q35-qter.
DFNA24
autosomal dominant deafness 24
autosomal dominant nonsyndromic deafness 24
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second-sixth decade of life with high frequency progressive hearing loss and has_material_basis_in mutation in the SLC17A8 gene on chromosome 12q23.
DFNA25
autosomal dominant deafness 25
autosomal dominant nonsyndromic deafness 25
An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.1.
DFNA27
autosomal dominant deafness 27
autosomal dominant nonsyndromic deafness 27
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the GRHL2 gene on chromosome 8q22.
DFNA28
autosomal dominant deafness 28
autosomal dominant nonsyndromic deafness 28
An autosomal dominant nonsyndromic deafness that is characterized by high frequency progressive hearing loss and has_material_basis_in mutation in the KCNQ4 gene on chromosome 1p34.2.
DFNA2A
autosomal dominant deafness 2A
autosomal dominant nonsyndromic deafness 2A
An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the fourth decade of life with by high frequency progressive hearing loss and has_material_basis_in mutation in the GJB3 gene on chromosome 1p34.3.
DFNA2B
autosomal dominant deafness 2B
autosomal dominant nonsyndromic deafness 2B
An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 15q25-q26.
DFNA30
autosomal dominant deafness 30
autosomal dominant nonsyndromic deafness 30
An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p21.3.
DFNA31
autosomal dominant deafness 31
autosomal dominant nonsyndromic deafness 31
An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 13q34.
DFNA33
autosomal dominant deafness 33
autosomal dominant nonsyndromic deafness 33
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21.
DFNA36
autosomal dominant deafness 36
autosomal dominant nonsyndromic deafness 36
An autosomal dominant nonsyndromic deafness that is characterized by prelingual, high frequency hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12.
DFNA3A
autosomal dominant deafness 3A
autosomal dominant nonsyndromic deafness 3A
An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the GJB6 gene on chromosome 13q12.
DFNA3B
autosomal dominant deafness 3B
autosomal dominant nonsyndromic deafness 3B
An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CRYM gene on chromosome 16p12.
DFNA40
autosomal dominant deafness 40
autosomal dominant nonsyndromic deafness 40
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat progressive hearing loss and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the purinergic receptor P2X 2 gene (P2RX2) on chromosome 12q24.
DFNA41
autosomal dominant deafness 41
autosomal dominant nonsyndromic deafness 41
An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p12.
DFNA43
autosomal dominant deafness 43
autosomal dominant nonsyndromic deafness 43
An autosomal dominant nonsyndromic deafness that is characterized postlingual onset with low to mild frequency progressive hearing loss and has_material_basis_in mutation in the CCDC50 gene on chromosome 3q28.
DFNA44
autosomal dominant deafness 44
autosomal dominant nonsyndromic deafness 44
An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p22-p21.
DFNA47
autosomal dominant deafness 47
autosomal dominant nonsyndromic deafness 47
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with progressive hearing loss and has_material_basis_in variation in the chromosome region 12q13-q14.
DFNA48
autosomal dominant deafness 48
autosomal dominant nonsyndromic deafness 48
An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has_material_basis_in variation in the chromosome region 1q21-q23.
DFNA49
autosomal dominant deafness 49
autosomal dominant nonsyndromic deafness 49
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently sloping hearing audioprofiles and has_material_basis_in mutation in the MYH14 gene on chromosome 19q13.33.
DFNA4A
autosomal dominant deafness 4A
autosomal dominant nonsyndromic deafness 4A
An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CEACAM16 gene on chromosome 19q13.
DFNA4B
autosomal dominant deafness 4B
autosomal dominant nonsyndromic deafness 4B
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss, and has_material_basis_in heterozygous mutation in the gasdermin E (GSDME) gene on chromosome 7p15.
DFNA5
autosomal dominant deafness 5
autosomal dominant nonsyndromic deafness 5
An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has_material_basis_in mutation in the MIRN96 gene on chromosome 7q32.
DFNA50
autosomal dominant deafness 50
autosomal dominant nonsyndromic deafness 50
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has_material_basis_in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes.
DFNA51
autosomal dominant deafness 51
chromosome 9q21.11 duplication syndrome
autosomal dominant nonsyndromic deafness 51
An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31.1-q32.
DFNA52
autosomal dominant deafness 52
autosomal dominant nonsyndromic deafness 52
An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q11.2-q12.
DFNA53
autosomal dominant deafness 53
autosomal dominant nonsyndromic deafness 53
An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31.
DFNA54
autosomal dominant deafness 54
autosomal dominant nonsyndromic deafness 54
An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TNC gene on chromosome 9q33.
DFNA56
autosomal dominant deafness 56
autosomal dominant nonsyndromic deafness 56
An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p21-p12.
DFNA58
autosomal dominant deafness 58
autosomal dominant nonsyndromic deafness 58
An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p14.2-q12.3.
DFNA59
autosomal dominant deafness 59
autosomal dominant nonsyndromic deafness 59
An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and low frequency progressive hearing loss and has_material_basis_in mutation in the WFS1 gene on chromosome 4p16.
DFNA14
DFNA38
DFNA6
autosomal dominant deafness 14
autosomal dominant deafness 38
autosomal dominant deafness 6
autosomal dominant nonsyndromic deafness 6
An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the DIABLO gene on chromosome 12q24.
DFNA64
autosomal dominant deafness 64
autosomal dominant nonsyndromic deafness 64
An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13.
DFNA65
autosomal dominant deafness 65
autosomal dominant nonsyndromic deafness 65
An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CD164 gene on chromosome 6q21.
DFNA66
autosomal dominant deafness 66
autosomal dominant nonsyndromic deafness 66
An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the OSBPL2 gene on chromosome 20q13.
DFNA67
autosomal dominant deafness 67
autosomal dominant nonsyndromic deafness 67
An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the HOMER2 gene on chromosome 15q25.
DFNA68
autosomal dominant deafness 68
autosomal dominant nonsyndromic deafness 68
An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the KITLG gene on chromosome 12q21.
DCUA
DFNA69
autosomal dominant deafness 69
unilateral or asymmetric congenital deafness
autosomal dominant nonsyndromic deafness 69
An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has_material_basis_in variation in the chromosome region 1q21-q23.
DFNA7
autosomal dominant deafness 7
autosomal dominant nonsyndromic deafness 7
An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the MCM2 gene on chromosome 3q21.
DFNA70
autosomal dominant deafness 70
autosomal dominant nonsyndromic deafness 70
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade with high frequency progressive hearing loss and has_material_basis_in mutation in the COCH gene on chromosome 14q12.
DFNA9
autosomal dominant deafness 9
autosomal dominant nonsyndromic deafness 9
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13.
CILD1
primary ciliary dyskinesia 1 with or without situs inversus
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41.
CILD31
apple peel syndrome with microcephaly and ocular anomalies
jejunal atresia with microcephaly and ocular anomalies
lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
primary ciliary dyskinesia 31
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23.
CILD21
primary ciliary dyskinesia 21 without situs inversus
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent respiratory infections, persistent rhinosinusitis, otitis media, chronic cough, variable presence of situs abnormalities, and has_material_basis_in homozygous or compound heterozygous mutation in the ZMYND10 gene on chromosome 3p21.
CILD22
primary ciliary dyskinesia 22 with or without situs inversus
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26.
CILD14
primary ciliary dyskinesia 14 with or without situs inversus
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15.
CILD3
primary ciliary dyskinesia 3 with or without situs inversus
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chromosome 5p15.
CILD29
primary ciliary dyskinesia 29 without situs inversus
A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, and nasal symptoms, and has_material_basis_in homozygous mutation in the RSPH9 gene on chromosome 6p21.
CILD12
primary ciliary dyskinesia 12 without situs inversus
A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, nasal symptoms, ear obstruction with consequent hearing problems, low weight, and short stature, and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH4A gene on chromosome 6q22.
CILD11
primary ciliary dyskinesia 11 without situs inversus
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH3 gene on chromosome 6q25.
CILD32
primary ciliary dyskinesia 32 without situs inversus
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the HEATR2 gene on chromosome 7p22.
CILD18
primary ciliary dyskinesia 18 with or without situs inversus
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with chronic respiratory infections, chronic sinusitis, recurrent bronchitis, and pneumonia beginning in infancy or early childhood and has_material_basis_in mutation in the DNAH11 gene on chromosome 7p21.
CILD7
primary ciliary dyskinesia 7 with or without situs inversus
A primary ciliary dyskinesia that is characterized by partial outer dynein arm defect and has_material_basis_in mutation in the TXNDC3 gene on the chromosome 7p14.1.
CILD6
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22.
CILD28
primary ciliary dyskinesia 28 with or without situs inversus
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, chronic sinopulmonary infections, asthenospermia, and immotile cilia and has_material_basis_in homozygous mutation in the LRRC6 on chromosome 8q24.
CILD19
primary ciliary dyskinesia 19 with or without situs inversus
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the ARMC4 gene on chromosome 10p.
CILD23
primary ciliary dyskinesia 23 with or without situs inversus
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and has_material_basis_in homozygous mutation in the DNAJB13 gene on chromosome 11q13.
CILD34
primary ciliary dyskinesia 34 without situs inversus
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and has_material_basis_in homozygous mutation in the CCDC65 gene on chromosome 12q13.
CILD27
primary ciliary dyskinesia 27 without situs inversus
A primary ciliary dyskinesia that is characterized by outer and inner dynein arm absence, chronic otitis media, sinusitis, recurrent pneumonia and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the KTU gene on chromosome 14q21.
CILD10
primary ciliary dyskinesia 10 with or without situs inversus
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absence of ciliary outer dynein arms, early infantile onset of respiratory distress, and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the DNAL1 gene on chromosome 14q24.3.
CILD16
primary ciliary dyskinesia 16 with or without situs inversus
A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has_material_basis_in variation in the chromosome region 15q13.1-q15.1.
CILD4
primary ciliary dyskinesia 4 with or without situs inversus
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, decreased fertility and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the DYX1C1 gene on chromosome 15q21.
CILD25
primary ciliary dyskinesia 25 with or without situs inversus
A primary ciliary dyskinesia that has_material_basis_in variation in the chromosome region 15q24-q25.
CILD8
primary ciliary dyskinesia 8 with or without situs inversus
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has_material_basis_in homozygous mutation in the HYDIN gene on chromosome 16q22.
CILD5
primary ciliary dyskinesia 5 without situs inversus
A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24.
CILD13
primary ciliary dyskinesia 13 with or without situs inversus
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the GAS8 gene on chromosome 16q24.
CILD33
primary ciliary dyskinesia 33 without situs inversus
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absent outer dynein arms, immotile cilia, variable occurence of laterality defects and recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the TTC25 gene on chromosome 17q21.
CILD35
primary ciliary dyskinesia 35 with or without situs inversus
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21.
CILD17
primary ciliary dyskinesia 17 with or without situs inversus
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAI2 gene on chromosome 17q25.
CILD9
primary ciliary dyskinesia 9 with or without situs inversus
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25.
CILD15
primary ciliary dyskinesia 15 with or without situs inversus
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13.
CILD30
primary ciliary dyskinesia 30 without situs inversus
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC114 gene on chromosome 19q13.
CILD20
primary ciliary dyskinesia 20 with or without situs inversus
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAAF3 gene on chromosome 19q13.
CILD2
primary ciliary dyskinesia 2 with or without situs inversus
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the C21ORF59 gene on chromosome 21q22.
CILD26
primary ciliary dyskinesia 26 with or without situs inversus
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH1 gene on chromosome 21q22.
CILD24
primary ciliary dyskinesia 24 without situs inversus
An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1.
DIDMOAD
WFS1
diabetes mellitus AND insipidus with optic atrophy AND deafness
An autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CISD2 gene on chromosome 4q24.
WFS2
A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has_material_basis_in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13.
congenital megaconial myopathy
congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
congenital muscular dystrophy with mitochondrial structural abnormalities
megaconial congenital muscular dystrophy
megaconial type congenital muscular dystrophy
A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36.
Eichsfeld type congenital muscular dystrophy
MDRS1
RSMD1
RSS
SEPN1-related myopathy
classic MmD
classic multiminicore disease
classic multiminicore myopathy
congenital merosin-positive muscular dystrophy with early spine rigidity
desmin-related myopathy with Mallory bodies
desmin-related myopathy with Mallory body-like inclusions
early-onset desmin-related myopathy
rigid spine syndrome
severe classic form minicore myopathy
severe classic form multicore myopathy
severe classic form multiminicore disease
A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42.
CMD1B
MDC1B
congenital muscular dystrophy type 1B
A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.
FKRP-related congenital muscular dystrophy
MDC1C
MDDGB5
congenital muscular dystrophy 1C
muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5
muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
muscular dystrophy-dystroglycanopathy type B5
A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22.
CMD1A
MDC1A
Merosin-negative congenital muscular dystrophy
congenital muscular dystrophy due to laminin alpha2 deficiency
congenital merosin-deficient muscular dystrophy 1A
A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12.
MDC1D
MDDGB6
congenital muscular dystrophy LARGE-related
congenital muscular dystrophy type 1D
muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
muscular dystrophy-dystroglycanopathy type B6
A congenital muscular dystrophy characterized by autosomal recessive inheritance of generalized muscle weakness and hypotonia without arthrogryposis or central nervous system involvement that has_material_basis_in mutation in the chromosome region 4p16.3.
congenital muscular dystrophy merosin-positive
A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13.
congenital muscular dystrophy with ITGA7 deficiency
congenital muscular dystrophy with integrin alpha-7 deficiency
congenital myopathy due to integrin alpha-7 deficiency
congenital muscular dystrophy due to integrin alpha-7 deficiency
A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.
L-CMD
LMNA-related congenital muscular dystrophy
congenital muscular dystrophy LMNA-related
congenital muscular dystrophy due to LMNA mutation
A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4.
LQT1
ventricular fibrillation with prolonged QT interval
A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNH2 gene on chromosome 7q36.1.
LQT2
A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN5A gene on chromosome 3p22.2.
LQT3
A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE1 gene on chromosome 21q22.12.
LQT5
A long QT interval syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE2 gene on chromosome 21q22.11.
LQT6
A long QT syndrome that has_material_basis_in mutation of the CAV3 gene on chromosome 3p25.3.
LQT9
A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN4B gene on chromosome 11q23.3.
LQT10
A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the AKAP9 gene on chromosome 7q21.2.
LQT11
A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SNTA1 gene on chromosome 20q11.21.
LQT12
A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNJ5 gene on chromosome 11q24.3.
LQT13
A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM1 gene on chromosome 14q32.11.
LQT14
A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM2 gene on chromosome 2p21.
LQT15
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p.
CMS8
congenital myasthenic syndrome 8 with pre- and postsynaptic defects
congenital myasthenic syndrome due to agrin deficiency
A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21.
CMS15
congenital myasthenic syndrome 15 without tubular aggregates
A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32.
CMS7
congenital myasthenic syndrome 7 presynaptic
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13.
CMS12
congenital myasthenia 12 with tubular aggregates
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12.
CMS20
congenital myasthenic syndrome 20 presynaptic
A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q.
CMS1B
congenital myasthenic syndrome 1B, fast-channel
A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q.
CMS IIa
CMS1A
congenital myasthenic syndrome 1A, slow-channel
congenital myasthenic syndrome type IIa
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37.
congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37.
CMS3B
congenital myasthenic syndrome 3B, fast-channel
A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37.
CMS3A
congenital myasthenic syndrome 3A, slow-channel
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25.
CMS Ic
CMS5
EAD
Engel congenital myasthenic syndrome
congenital myasthenic syndrome Engel type
congenital myasthenic syndrome type Ic
end plate acetylcholinesterase deficiency
A congenital myasthenic syndrome characterized by autosomal inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p.
CMS10
LGM
familial limb-girdle myasthenia
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22.
CMS14
CMSTA3
congenital myasthenic syndrome 14, with tubular aggregates
congenital myasthenic syndrome with tubular aggregates 3
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.
CMS9
congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q.
CMS Ia2
CMS1A2
CMS6
CMSEA
FIM
FIMG2
congenital myasthenic syndrome 6, presynaptic
congenital myasthenic syndrome type Ia2
congenital presynaptic myasthenic syndrome associated with episodic apnea
familial infantile myasthenia
familial infantile myasthenia gravis 2
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11.
CMS21
congenital myasthenic syndrome 21, presynaptic
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22.
CMS19
A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11.
CMS17
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of AChR at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.
CMS Ie
CMS11
CMS1E
congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency
congenital myasthenic syndrome 1e
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23.
CMS13
CMSTA2
congenital myasthenic syndrome 13 with tubular aggregates
congenital myasthenic syndrome with tubular aggregates 2
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.
CMS4B
congenital myasthenic syndrome 4B fast-channel
A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.
CMS Ia1
CMS1A1
CMS4A
congenital myasthenic syndrome 4A slow-channel
congenital myasthenic syndrometype Ia1
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.
CMS Id
CMS1D
CMS4C
FIM1
congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency
congenital myasthenic syndrome type Id
familial infantile myasthenia 1
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13.
CMS2C
congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency
A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13.
CMS2A
congenital myasthenic syndrome 2A slow-channel
A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23.
CMS16
congenital myasthenic syndrome acetazolamide-responsive
A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic neuromuscular junction defects, early-onset muscle weakness, easy fatigability, delayed psychomotor development and ataxia that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11.
CMS18
A hypotrichosis that has_material_basis_in a autosomal dominant mutation of APCDD1 on chromosome 18p11.22.
Hhs
Hts
Hypt1
hereditary generalized hypotrichosis simplex
A hypotrichosis that has_material_basis_in a autosomal dominant mutation of CDSN on chromosome 6p21.33.
Htss1
Hypt2
Spanish type hypotrichosis
hypotrichosis simplex of the scalp 1
A hypotrichosis that has_material_basis_in a autosomal dominant mutation of KRT74 on chromosome 12q13.13.
Htss2
Hypt3
hypotrichosis simplex of the scalp 2
A hypotrichosis that has_material_basis_in a autosomal dominant mutation of HR on chromosome 8p21.3.
Hypotrichosis, Marie Unna Type, 1
Hypt4
Marie Unna Hereditary Hypotrichosis 1
Muhh1
A hypotrichosis that has_material_basis_in a mutation on chromosome 1p21.1-q21.3.
Hypt5
Marie Unna Hereditary Hypotrichosis 2
Muhh2
A hypotrichosis that has_material_basis_in a autosomal recessive mutation of DSG4 on chromosome 18q12.1.
Hypotrichosis, Localized, Autosomal Recessive 1
Hypt6
Lah1
Monilethrix-like hypotrichosis
autosomal recessive localized hypotrichosis
A hypotrichosis that has_material_basis_in a autosomal recessive mutation of LIPH on chromosome 3q27.2.
Hypt7
Lah2
hypotrichosis, localized, autosomal recessive 2
total Mari type hypotrichosis,
A hypotrichosis has_material_basis_in a autosomal recessive mutation of LPAR6 on chromosome 13q14.2.
Hypt8
Lah3
hypotrichosis, localized, autosomal recessive 3
A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 10q11.23-q22.3.
Hypt9
A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 7p22.3-p21.3.
Hypt10
A hypotrichosis that has_material_basis_in a autosomal dominant mutation of SNRPE on chromosome 1q32.1.
Hypt11
A hypotrichosis that has_material_basis_in a autosomal dominant mutation of RPL21 on chromosome 13q12.2.
Hypt12
A hypotrichosis that has_material_basis_in a autosomal dominant mutation of KRT71 on chromosome 12q13.13.
Hypt13
hypotrichosis with woolly hair
A hypotrichosis that has_material_basis_in a autosomal recessive mutation of CDH3 on chromosome 16q22.1.
Hjmd
hypotrichosis with cone-rod dystrophy
congenital hypotrichosis with juvenile macular dystrophy
A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous or compound heterozygous mutation in the SAG gene on chromosome 2q37.
CSNBO1
congenital stationary night blindness Oguchi type 1
A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous mutation in the GRK1 gene on chromosome 13q34.
CSNBO2
congenital stationary night blindness Oguchi type 2
A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the GNAT1 gene on chromosome 3p21.
CSNB1G
congenital stationary night blindness type 1G
congenital stationary night blindness 1G
A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the GNAT1 gene on chromosome 3p21.
CSNBAD3
Nougaret type congenital stationary night blindness
congenital stationary night blindness autosomal dominant 3
A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP1 gene on chromosome 2q21.
Micro Syndrome 1
WARBM1
A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41.
Micro Syndrome 2
WARBM2
A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB18 gene on chromosome 10p12.
Micro Syndrome 3
WARBM3
A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TBC1D20 gene on chromosome 20p13.
Micro Syndrome 4
WARBM4
A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inhetitance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene (611203) on chromosome 20q13.
CLN4B disease
autosomal dominant neuronal ceroid lipofuscinosis 4B
neuronal ceroid lipofuscinosis 4 Parry type
A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34.
CLN1
neuronal ceroid lipofuscinosis 1 variable age of onset
A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has_material_basis_in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28.
CLN7
A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23.
CLN8
A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23.
EPMR
northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant
progressive epilepsy with mental retardation, northern epilepsy
progressive epilepsy-intellectual disability syndrome, Finnish type
neuronal ceroid lipofuscinosis 8 northern epilepsy variant
A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15.
CLN10
Cathepsin D deficiency
neuronal ceroid lipofuscinosis cathepsin D-deficient
neuronal ceroid lipofuscinosis due to cathepsin D deficiency
A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15.
CLN2
neuronal ceroid lipofuscinosis 2 variable age at onset
A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13.
CLN13
neuronal ceroid lipofuscinosis 13 Kufs type
A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22.
CLN5
neuronal ceroid lipofuscinosis 5 variable age of onset
A neuronal ceroid lipofuscinosis that is characterized by progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23.
CLN6
neuronal ceroid lipofuscinosis 6 variable age of onset
A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive myoclonus epilepsy, ataxia, loss of motor function, dysarthria, progressive dementia, and progressive cerebral and cerebellar atrophy on brain imaging and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23.
CLN4A
autosomal recessive neuronal ceroid lipofuscinosis 4A
A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11.
Batten disease
CLN3
juvenile neuronal ceroid lipofuscinosis
A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q.
CLN11
A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive vision loss, progressive ataxia and seziures.
CLN9
A neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia.
NBIA
neurodegeneration with brain iron accumulation
A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1 and is characterized by onset in the first 2 years of life.
INAD1
Infantile Neuroaxonal Dystrophy 1
NBIA2a
Neurodegeneration, Pla2g6-Associated
Seitelberger Disease
neurodegeneration with brain iron accumulation 2a
A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1.
NBIA2b
Neuroaxonal Dystrophy, Atypical
Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related
neurodegeneration with brain iron accumulation 2b
A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33.
Adult basal ganglia disease
Ferritin-related neurodegeneration
Hereditary ferritinopathy
NBIA3
Neuroferritinopathy
Neuroferritinopathy; Basal Ganglia Disease, Adult-Onset
neurodegeneration with brain iron accumulation 3
A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12.
MPAN
Mitochondrial Protein-Associated Neurodegeneration
NBIA due to C19orf12 mutation
NBIA4
Neurodegeneration with brain iron accumulation due to C19orf12 mutation
Neurodegeneration with brain iron accumulation type 4
neurodegeneration with brain iron accumulation 4
A neurodegeneration with brain iron accumulation that has_material_basis_in X-linked dominant inheritance of mutation in the WDR45 gene on chromosome Xp11.23.
BPAN
Beta-Propeller Protein-Associated Neurodegeneration
NBIA5
SENDA
Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood
neurodegeneration with brain iron accumulation 5
A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the COASY gene on chromosome 17q21.2.
CoPAN
NBIA6
Neurodegeneration with brain iron accumulation due to COASY mutation
neurodegeneration with brain iron accumulation 6
A type 1 diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutation of the INS gene on chromosome 11p15.5.
IDDM2
Insulin-Dependent Diabetes Mellitus 2
A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 15q26.
IDDM3
Insulin-Dependent Diabetes Mellitus 3
A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 11q13.
IDDM4
Insulin-Dependent Diabetes Mellitus 4
A type 1 diabetes mellitus that has_material_basis_in mutation of the SUMO4 gene on chromosome 6q25.1.
IDDM5
Insulin-Dependent Diabetes Mellitus 5
A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 18q21.
IDDM6
Insulin-Dependent Diabetes Mellitus 6
A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q31.
IDDM7
Insulin-Dependent Diabetes Mellitus 7
A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 6q25-q27.
IDDM8
Insulin-Dependent Diabetes Mellitus 8
A type 1 diabetes mellitus that has_material_basis_in mutation of the IL2RA gene on chromosome 10p15.1.
IDDM10
Insulin-Dependent Diabetes Mellitus 10
A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 14q24.3-q31.
IDDM11
Insulin-Dependent Diabetes Mellitus 11
A type 1 diabetes mellitus that has_material_basis_in mutation of the CTLA4 gene on chromosome 2q33.2.
IDDM12
Insulin-Dependent Diabetes Mellitus 12
A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 2q34.
IDDM13
Insulin-Dependent Diabetes Mellitus 13
A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q21.
IDDM15
Insulin-Dependent Diabetes Mellitus 15
A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q25.
IDDM17
Insulin-Dependent Diabetes Mellitus 17
A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 5q31.1-q33.1.
IDDM18
Insulin-Dependent Diabetes Mellitus 18
A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q24.3.
IDDM19
Insulin-Dependent Diabetes Mellitus 19
A type 1 diabetes mellitus that has_material_basis_in mutation of the HNF1A gene on chromosome 12q24.31.
IDDM20
Insulin-Dependent Diabetes Mellitus 20
A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q25.
IDDM21
Insulin-Dependent Diabetes Mellitus 21
A type 1 diabetes mellitus that has_material_basis_in mutation of the CCR5 gene on chromosome 3p21.31.
IDDM22
Insulin-Dependent Diabetes Mellitus 22
A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 4q27.
IDDM23
Insulin-Dependent Diabetes Mellitus 23
A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q23.31.
IDDM24
Insulin-Dependent Diabetes Mellitus 24
A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF5A gene on chromosome 12q13.
SPG10
autosomal dominant spastic paraplegia 10
autosomal dominant spastic paraplegia type 10
A hereditary spastic paraplegia that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21.
HSP-TCC
Nakamura-Osame syndrome
SPG11
autosomal recessive spastic paraplegia 11
autosomal recessive spastic paraplegia complicated with thin corpus callosum
autosomal recessive spastic paraplegia type 11
autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum
spastic paraplegia-intellectual disability-thin corpus callosum syndrome
A hereditary spastic paraplegia that has_material_basis_in mutation in the RTN2 gene on chromosome 19q13.
SPG12
autosomal dominant spastic paraplegia 12
autosomal dominant spastic paraplegia type 12
A hereditary spastic paraplegia that is characterized by a pure form of the disease with late onset and has_material_basis_in mutation in the HSPD1 on chromosome 2q33.
SPG13
autosomal dominant spastic paraplegia 13
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 3q27-q28.
SPG14
autosomal recessive spastic paraplegia 14
autosomal recessive spastic paraplegia type 14
A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE26 gene on chromosome 14q24.1.
Kjellin syndrome
SPG15
autosomal recessive spastic paraplegia 15
autosomal recessive spastic paraplegia type 15
hereditary spastic paraparesis type 15
spastic paraplegia and retinal degeneration
spastic paraplegia-retinal degeneration syndrome
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq11.2.
SPG16
X-linked spastic paraplegia 16
X-linked spastic paraplegia type 16
A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.
SPG17
Silver spastic paraplegia syndrome
Silver syndrome
autosomal dominant spastic paraplegia 17
autosomal dominant spastic paraplegia type 17
dHMN5B
distal hereditary motor neuropathy type 5B
spastic paraplegia with amyotrophy of hands and feet
spastic paraplegia-amyotrophy of hands and feet
A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11.
IDMDC
SPG18
autosomal recessive spastic paraplegia 18
autosomal recessive spastic paraplegia type 18
intellectual disability, motor dysfunction and joint contractures
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 9q.
SPG19
autosomal dominant spastic paraplegia 19
autosomal dominant spastic paraplegia type 19
A hereditary spastic paraplegia that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.2.
SPG2
X-linked spastic paraplegia 2
spastic paraplegia type 2
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32.
Lison syndrome
SPG23
Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome
spastic paraplegia 23
spastic paraplegia with pigmentary abnormalities
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 13q14.
SPG24
autosomal recessive spastic paraplegia 24
autosomal recessive spastic paraplegia type 24
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 6q23-q24.1.
SPG25
autosomal recessive spastic paraplegia 25
autosomal recessive spastic paraplegia type 25
A hereditary spastic paraplegia that has_material_basis_in mutation in the B4GALNT1 gene on chromosome 12q13.
GM2 synthase deficiency
SPG26
autosomal recessive spastic paraplegia 26
autosomal recessive spastic paraplegia type 26
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 10q22.1-q24.1.
SPG27
autosomal recessive spastic paraplegia 27
autosomal recessive spastic paraplegia type 27
A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD1 gene on chromosome 14q22.
SPG28
autosomal recessive spastic paraplegia 28
autosomal recessive spastic paraplegia type 28
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1p31.1-p21.1.
SPG29
autosomal dominant spastic paraplegia 29
A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF1A gene on chromosome 2q37.
SPG30
autosomal recessive spastic paraplegia 30
autosomal spastic paraplegia type 30
A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP1 gene on chromosome 2p11.
SPG31
autosomal dominant spastic paraplegia 31
autosomal dominant spastic paraplegia type 31
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 14q12-q21.
SPG32
autosomal recessive spastic paraplegia 32
autosomal recessive spastic paraplegia type 32
A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE27 gene on chromosome 10q24.
SPG33
autosomal dominant spastic paraplegia 33
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq24-q25.
SPG34
X-linked spastic paraplegia 34
X-linked spastic paraplegia type 34
A hereditary spastic paraplegia that has_material_basis_in mutation in the FA2H gene on chromosome 16q23.1.
FAHN
SPG35
autosomal recessive spastic paraplegia 35
autosomal recessive spastic paraplegia type 35
fatty acid hydroxylase-associated neurodegeneration
leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 12q23-q24.
SPG36
autosomal dominant spastic paraplegia 36
autosomal dominant spastic paraplegia type 36
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 8p21.1-q13.3.
SPG37
autosomal dominant spastic paraplegia 37
autosomal dominant spastic paraplegia type 37
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 4p16-p15.
SPG38
autosomal dominant spastic paraplegia 38
autosomal dominant spastic paraplegia type 38
A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13.
NTE-related motor neuron disorder
NTEMND
SPG39
autosomal recessive spastic paraplegia 39
autosomal recessive spastic paraplegia type 39
spastic paraplegia due to NTE mutation
spastic paraplegia due to neuropathy target esterase mutation
A hereditary spastic paraplegia that is characterized by lower limb weakness and spasticity that is generally non-progressive or extremely slow and has_material_basis_in mutation in the ATL1 gene on chromosome 14q22.
FSP1
SPG3A
autosomal dominant familial spastic paraplegia 1
autosomal dominant spastic paraplegia 3
autosomal dominant spastic paraplegia type 3
strumpell disease
A hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has_material_basis_in mutation in the SPAST gene on chromosome 2p22.
SPG4
autosomal dominant spastic paraplegia 4
autosomal dominant spastic paraplegia type 4
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 11p14.1-p11.2.
SPG41
autosomal dominant spastic paraplegia 41
autosomal dominant spastic paraplegia type 41
A hereditary spastic paraplegia that has_material_basis_in mutation in the SLC33A1 gene on chromosome 3q25.31.
SPG42
autosomal dominant spastic paraplegia 42
autosomal dominant spastic paraplegia type 42
A hereditary spastic paraplegia that has_material_basis_in mutation in the C19ORF12 gene on chromosome 19q12.
SPG43
autosomal recessive spastic paraplegia 43
autosomal recessive spastic paraplegia type 43
A hereditary spastic paraplegia that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42.
SPG44
autosomal recessive spastic paraplegia 44
A hereditary spastic paraplegia that has_material_basis_in mutation in the NT5C2 gene on chromosome 10q24.
SPG45
SPG65
autosomal recessive spastic paraplegia 45
autosomal recessive spastic paraplegia type 45
autosomal recessive spastic paraplegia type 65
A hereditary spastic paraplegia that has_material_basis_in mutation in the GBA2 gene on chromosome 9p.
SPG46
autosomal recessive spastic paraplegia 46
autosomal recessive spastic paraplegia type 46
A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13.
CPSQ5
SPG47
autosomal recessive spastic paraplegia 47
spastic quadriplegic cerebral palsy 5
A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1.
SPG48
autosomal recessive spastic paraplegia 48
autosomal recessive spastic paraplegia type 48
A hereditary spastic paraplegia that has_material_basis_in mutation in the TECPR2 gene on chromosome 14q32.
SPG49
autosomal recessive spastic paraplegia 49
autosomal recessive spastic paraplegia type 49
A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1.
AP-4-Associated Hereditary Spastic Paraplegia
CPSQ3
SPG50
autosomal recessive spastic paraplegia 50
spastic quadriplegic cerebral palsy 3
A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4E1 gene on chromosome 15q21.
CPSQ4
SPG51
autosomal dominant spastic paraplegia 51
spastic quadriplegic cerebral palsy 4
A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12.
CPSQ6
SPG52
autosomal recessive spastic paraplegia 52
spastic quadriplegic cerebral palsy 6
A hereditary spastic paraplegia that has_material_basis_in mutation in the VPS37A gene on chromosome 8p22.
SPG53
autosomal recessive spastic paraplegia 53
autosomal recessive spastic paraplegia type 53
A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD2 gene on chromosome 8p11.
SPG54
autosomal recessive spastic paraplegia 54
autosomal recessive spastic paraplegia type 54
A hereditary spastic paraplegia that has_material_basis_in mutation in the C12ORF65 gene on chromosome 12q24.
SPG55
autosomal recessive spastic paraplegia 55
autosomal recessive spastic paraplegia type 55
A hereditary spastic paraplegia that has_material_basis_in mutation in the CYP2U1 gene on chromosome 4q25.
SPG56
autosomal recessive spastic paraplegia 56
autosomal recessive spastic paraplegia type 56
A hereditary spastic paraplegia that has_material_basis_in mutation in the TFG gene on chromosome 3q12.
SPG57
autosomal recessive spastic paraplegia 57
autosomal recessive spastic paraplegia type 57
A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12.
SPG5A
autosomal recessive spastic paraplegia 5A
autosomal recessive spastic paraplegia type 5A
A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2.
FSP3
SPG6
autosomal dominant familial spastic paraplegia type 3
autosomal dominant spastic paraplegia 6
autosomal dominant spastic paraplegia type 6
A hereditary spastic paraplegia that has_material_basis_in mutation in the ARL6IP1 gene on chromosome 16p12.
SPG61
autosomal recessive spastic paraplegia 61
autosomal recessive spastic paraplegia type 61
A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN1 gene on chromosome 10q24.
SPG62
autosomal recessive spastic paraplegia 62
autosomal recessive spastic paraplegia type 62
A hereditary spastic paraplegia that has_material_basis_in mutation in the AMPD2 gene on chromosome 1p13.
SPG63
autosomal recessive spastic paraplegia 63
spastic paraplegia 63
A hereditary spastic paraplegia that has_material_basis_in mutation in the ENTPD1 gene on chromosome 10q24.
SPG64
autosomal recessive spastic paraplegia 64
autosomal recessive spastic paraplegia type 64
A hereditary spastic paraplegia that is characterized by slowly progressive onset, usually between 18-60 years of age, and generally more severe spasticity and has_material_basis_in mutation in the SPG7 gene on chromosome 16q24.
SPG7
autosomal recessive spastic paraplegia 7
spastic paraplegia type 7
A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP2 gene on chromosome 5q31.
SPG72
autosomal spastic paraplegia type 72
A hereditary spastic paraplegia that has_material_basis_in mutation in the CPT1C gene on chromosome 19q13.
SPG73
autosomal dominant spastic paraplegia 73
autosomal dominant spastic paraplegia type 73
A hereditary spastic paraplegia that has_material_basis_in mutation in the IBA57 gene on chromosome 1q42.
SPG74
autosomal recessive spastic paraplegia 74
A hereditary spastic paraplegia that has_material_basis_in mutation in the MAG gene on chromosome 19q13.
SPG75
autosomal recessive spastic paraplegia 75
autosomal recessive spastic paraplegia type 75
A hereditary spastic paraplegia that has_material_basis_in mutation in the CAPN1 gene on chromosome 11q13.
SPG76
autosomal recessive spastic paraplegia 76
A hereditary spastic paraplegia that has_material_basis_in mutation in the FARS2 gene on chromosome 6p25.
SPG77
autosomal recessive spastic paraplegia 77
A hereditary spastic paraplegia that has_material_basis_in mutation in the KIAA0196 gene on chromosome 8q24.
SPG8
autosomal dominant spastic paraplegia 8
autosomal dominant spastic paraplegia type 8
A hereditary spastic paraplegia that has_material_basis_in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.
AD-SPG9A
Cataracts motor neuropathy-short stature-skeletal anomalies syndrome
SPG9A
autosomal dominant complex spastic paraplegia type 9A
autosomal dominant spastic paraplegia 9A
cataracts with motor neuronopathy, short stature and skeletal abnormalities
spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux
spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome
A hereditary spastic paraplegia that has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.
SPG9B
autosomal recessive complex spastic paraplegia type 9B
autosomal recessive spastic paraplegia 9B
An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa.
US1
USH1
An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa.
USH2
An Usher syndrome characterized by progressive hearing loss typically beginning in late childhood, variable vestibular dysfunction and onset of retinitis pigmentosa by the second decade of life.
USH3
An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has_material_basis_in mutation in the MTTS2 gene in the mitochondrial genome.
Orphanet has this as part of USH3, reference listed refers to symptoms being almost identical to USH3 but inheritance pattern is different. I made this a child of Usher Syndrome but not USH3 - smb.
An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the USH1C gene on chromosome 11p15.
USH1C
Usher syndrome type I Acadian variety
Usher syndrome type IC
An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22.
USH1D
Usher syndrome type ID
An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the PCDH15 gene on chromosome 10q.
USH1F
Usher syndrome type IF
An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 21q21.
USH1E
Usher syndrome type IE
An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the USH1G gene on chromosome 17q25.
USH1G
Usher syndrome type IG
An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 15q22-q23.
USH1H
Usher syndrome type IH
An Usher syndrome type 1 that has_material_basis_in caused by homozygous mutation in the CIB2 gene on chromosome 15q24.
USH1J
Usher syndrome type IJ
An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 10p11.21-q21.1.
USH1K
Usher syndrome type IK
An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41.
USH2A
Usher syndrome type IIA
An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14.
USH2C
Usher syndrome type IIC
An Usher syndrome type 2 that has_material_basis_in by homozygous or compound heterozygous mutation in the WHRN gene on chromosome 9q32.
USH2D
Usher syndrome type IID
An Usher syndrome type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the CLRN1 gene on chromosome 3q25.
USH3A
Usher syndrome type IIIA
An Usher syndrome type 3 that has_material_basis_in homozygous mutation in the HARS gene on chromosome 5q31.
USH3B
Usher syndrome type IIIB
A xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has_material_basis_in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22.
XP group A
XP1
XPA
xeroderma pigmentosum 1
xeroderma pigmentosum complementation group A
A xeroderma pigmentosum characterized by increased propensity to develop malignant melanoma that has_material_basis_in mutation in the XPC gene on chromosome 3p25.
XP group C
XP3
XPC
XPCC
xeroderma pigmentosum III
A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13.
XP group D
XP group H
XP4
XP8
XPD
XPDC
XPH
xeroderma pigmentosum IV
xeroderma pigmentosum VIII
A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the DDB2 gene on chromosome 11p11.
XP group E
XP5
XPE
xeroderma pigmentosum V
A xeroderma pigmentosum characterized by normal DNA excision repair, but defective postreplication repair that has_material_basis_in mutations in the POLH gene on chromosome 6p21.1.
XPV
photosensitivity with defective DNA synthesis
xeroderma pigmentosum with normal DNA repair rates
A xeroderma pigmentosum characterized by milder symptoms and later onset of skin cancer that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC4 gene on chromosome 16p13.
XP group F
XP6
XPF
xeroderma pigmentosum VI
A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC5 gene on chromosome 13q33.
XP group G
XP7
XPG
xeroderma pigmentosum VII
A xeroderma pigmentosum characterized by that has_material_basis_in mutation in the ERCC3 gene on chromosome 2q14.
XP group B
XPB
XPBC
A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3.
Pbd9
Peroxisome Biogenesis Disorder 9
Rcdp1
rhizomelic chondrodysplasia punctata type 1
A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2.
Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency
Dhapat Deficiency
Dihydroxyacetonephosphate Acyltransferase Deficiency
Glyceronephosphate O-Acyltransferase Deficiency
Gnpat Deficiency
Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency
Rcdp2
rhizomelic chondrodysplasia punctata type 2
A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2.
Agps Deficiency
Alkyldihydroxyacetonephosphate Synthase Deficiency
Alkylglycerone-Phosphate Synthase Deficiency
Rcdp3
rhizomelic chondrodysplasia punctata type 3
A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31.
Rcdp5
rhizomelic chondrodysplasia punctata type 5
A posterior polymorphous corneal dystrophy that has_material_basis_in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23.
Ched1
Corneal Endothelial Dystrophy 1, Autosomal Dominant
Maumenee Corneal Dystrophy
Ppcd1
posterior polymorphous corneal dystrophy 1
A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the COL8A2 gene on chromosome 1p34.3.
Ppcd2
posterior polymorphous corneal dystrophy 2
A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the ZEB1 gene on chromosome 10p11.22.
Ppcd3
posterior polymorphous corneal dystrophy 3
A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3.
Apkd1
Pkd1
Polycystic Kidney Disease, Adult, Type I
A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD2 gene on chromosome 4q22.1.
Apkd2
Pkd2
Polycystic Kidney Disease, Adult, Type II
A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the GANAB gene on chromosome 11q12.3.
Apkd3
Pkd3
Polycystic Kidney Disease, Adult, Type III
A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion.
Arpkd
Pkhd1
Polycystic Kidney Disease, Infantile, Type I
Polycystic Kidney and Hepatic Disease 1
autosomal recessive polycystic kidney disease
A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in mutations in the RHO gene on chromosome 3q22.1.
CSNBAD1
rhodopsin-related congenital stationary night blindness
congenital stationary night blindness autosomal dominant 1
A congenital stationary night blindness characterized by autosomal dominant inhertance that has_material_basis_in heterozygous mutation in the PDE6B gene on chromosome 4p16.
CSNBAD2
Rambusch type congenital stationary night blindness
congenital stationary night blindness autosomal dominant 2
A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the LRIT3 gene on chromosome 4q25.
CSNB1F
congenital stationary night blindness 1F autosomal recessive
congenital stationary night blindness 1F
A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in mutation in the GRM6 gene on chromosome 5q35.
CSNB1B
autosomal recessive complete congenital stationary night blindness
congenital stationary night blindness 1B autosomal recessive
congenital stationary night blindness 1B
A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13.
CSNB1H
congenital stationary night blindness type 1H
congenital stationary night blindness 1H
A congenital stationary night blindness characterized by autosomal recessive that has_material_basis_in homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14.
CSNB1C
congenital stationary night blindness 1C autosomal recessive
congenital stationary night blindness 1C
A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SLC24A1 gene on chromosome 15q22.
CSNB1D
congenital stationary night blindness 1D autosomal recessive
congenital stationary night blindness 1D
A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12.
CSNB1E
congenital stationary night blindness 1E autosomal recessive
congenital stationary night blindness 1E
A congenital stationary night blindness that has_material_basis_in mutation in the NYX gene on chromosome Xp11.4.
CSNB1A
NBMI
complete CSNB X-linked
congenital stationary night blindness 1A X-linked
congenital stationary night blindness with myopia
hemeralopia-myopia
myopia-night blindness
congenital stationary night blindness 1A
A congenital stationary night blindness that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.23.
congenital stationary night blindness 2A X-linked
congenital stationary night blindness 2A
A holoprosencephaly that has_material_basis_in mutation in the homeobox-containing SIX3 gene on chromosome 2p21.
HPE2
A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14.
HPE9
holoprosencephaly with microphthalmia and first branchial arch anomalies
pituitary anomalies with holoprosencephaly-like features
A holoprosencephaly that has_material_basis_in variation in the chromosome region 2q37.1-q37.3.
HPE6
A holoprosencephaly that has_material_basis_in heterozygous mutation in the SHH gene on chromosome 7q36.
HLP3
HPE3
A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22.
HPE7
A holoprosencephaly that has_material_basis_in heterozygous mutation in the CDON gene on chromosome 11q24.
HPE11
A holoprosencephaly that has_material_basis_in heterozygous mutation in the ZIC2 gene on chromosome 13q32.
HPE5
A holoprosencephaly that has_material_basis_in variation in the chromosome region 14q13.
HPE8
A holoprosencephaly that has_material_basis_in heterozygous mutation in the TGIF gene on chromosome 18p11.
HPE4
A holoprosencephaly that has_material_basis_in variation in the chromosome region 21q22.3.
HPE1
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1p36.
IBD7
An inflammatory bowel disease that has_material_basis_in variation in the IL23R gene on chromosome 1p31.3.
IBD17
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1q32.1.
IBD23
An inflammatory bowel disease that has_material_basis_in variation in the ATG16L1 gene on chromosome 2q37.
IBD10
inflammatory bowel disease (Crohn disease) 10
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p26.
IBD9
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p21.3.
IBD12
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5p13.1.
IBD18
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q31.
IBD5
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q33.1.
IBD19
inflammatory bowel disease (Crohn disease) 19
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 6p21.3.
IBD3
An inflammatory bowel disease that has_material_basis_in mutations in the NOD2 gene on chromosome 16q12.1.
IBD1
An inflammatory bowel disease that has_material_basis_in variation in the ABCB1 gene on chromosome 7q21.1.
IBD13
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 7q22.
IBD11
An inflammatory bowel disease that has_material_basis_in variation in the IRF5 gene on chromosome 7q32.
IBD14
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 9q32.
IBD16
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q21.
IBD15
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q23-q24.
IBD20
An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the IL10RA gene on chromosome 11q23.
IBD28
early onset autosomal recessive inflammatory bowel disease 28
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12p13.2-q24.1.
IBD2
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12q15.
IBD26
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 13q13.3.
IBD27
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 14q11-q12.
IBD4
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 16p.
IBD8
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 17q21.2.
IBD22
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 18p11.
IBD21
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 19p13.
IBD6
An inflammatory bowel disease that has_material_basis_in variation in the chromosome 20q13.
IBD24
An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the IL10RB gene on chromosome 21q22.
IBD25
early onset autosomal recessive inflammatory bowel disease 25
A leukocyte adhesion deficiency that has_material_basis_in mutation of the ITGB2 gene on chromosome 21q22.3.
LAD1
LFA1 immunodeficiency
leukocyte adhesion deficiency type I
lymphocyte function-associated antigen 1 immunodeficiency
A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and has_material_basis_in mutation in FERMT3 gene on chromosome 11q12.
IADD
LAD1 variant
LAD1V
LAD3
integrin activation deficiency disease
leukocyte adhesion deficiency 1 variant
leukocyte adhesion deficiency type III
A hypophosphatasia that has_material_basis_in a heterozygous or compound heterozygous mutation of ALPL on chromosome 1p36.12.
mild hypophosphatasia
A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36.
Hops
phosphoethanolaminuria
A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of ALPL on chromosome 1p36.12.
A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of ANK1 on chromosome 8p11.21.
HS1
SPH1
hereditary spherocytosis 1
A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of SPTB on chromosome 14q23.3.
HS2
SPH2
hereditary spherocytosis 2
A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of SPTA1 on chromosome 1q23.1.
HS3
SPH3
hereditary spherocytosis 3
A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of SLC4A1 on chromosome 17q21.31.
HS4
SPH4
hereditary spherocytosis 4
A hereditary spherocytosis that has_material_basis_in a mutation of EPB42 on chromosome 15q15.2.
HS5
SPH5
hereditary spherocytosis 5
A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of HPLH1 on chromosome 9q21.3-q22.
FHL1
HLH1
HPLH1
familial hemophagocytic lymphohistiocytosis 1
A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of PRF1 on chromosome 10q22.1.
FHL2
HLH2
HPLH2
familial hemophagocytic lymphohistiocytosis 2
A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of UNC13D on chromosome 17q25.1.
FHL3
HLH3
HPLH3
familial hemophagocytic lymphohistiocytosis 3
A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of STX11 on chromosome 6q24.2.
FHL4
HLH4
HPLH4
familial hemophagocytic lymphohistiocytosis 4
A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of STXBP2 on chromosome 19p13.2.
FHL5
HLH5
HPLH5
familial hemophagocytic lymphohistiocytosis 5
A nemaline myopathy characterized by onset typically in early childhood of mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TPM3 gene on chromosome 1q21.
NEM1
nemaline myopathy 1, autosomal dominant or recessive
A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42.
NEM3
nemaline myopathy 3, autosomal dominant or recessive
A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23.
NEM2
nemaline myopathy 2, autosomal recessive
A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31.
NEM9
A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22.
NEM8
nemaline myopathy 8, autosomal recessive
A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD3 gene on chromosome 3p14.
NEM10
A nemaline myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.
NEM4
nemaline myopathy 4, autosomal dominant
A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21.
NEM11
nemaline myopathy 11, autosomal recessive
A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13.
NEM7
nemaline myopathy 7, autosomal recessive
A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the KBTBD13 gene on chromosome 15q22.
nemaline myopathy 6, autosomal dominant
A nemaline myopathy that has_material_basis_in homozygous mutation in the TNNT1 gene on chromosome 19q13.
ANM
Amish nemaline myopathy
NEM5
nemaline myopathy 5, Amish type
An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13.
OPTA1
autosomal dominant osteopetrosis type 1
An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13.
Albers-Schonberg osteopetrosis
OPTA2
autosomal dominant Albers-Schonberg disease
autosomal dominant osteopetrosis type II
osteopetrosis autosomal dominant type 2
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21.
OPTB5
infantile malignant osteopetrosis 3
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15.
OPTB8
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21.
Guibaud-Vainsel syndrome
OPTB3
autosomal recessive osteopetrosis 3 with renal tubular acidosis
carbonic anhydrase II deficiency
marble brain disease
osteopetrosis with renal tubular acidosis
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2.
OPTB1
autosomal recessive Albers-Schonberg disease
infantile malignant osteopetrosis 1
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14.
OPTB2
mild autosomal recessive form osteopetrosis
osteoclast-poor osteopetrosis
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13.
OPTB4
infantile malignant osteopetrosis 2
An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31.
OPTB6
autosomal recessive osteopetrosis intermediate form
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.
OPTB7
autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
autosomal recessive osteopetrosis type 7
osteoclast-poor osteopetrosis with hypogammaglobulinemia
osteopetrosis-hypogammaglobulinemia syndrome
A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 1p21-p13.3.
WS2B
Waardenburg syndrome type IIB
A Waardenburg's syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.
WS1
Waardenburg syndrome type I
A Waardenburg's syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has_material_basis_in heterozygous or homozygous mutation in the PAX3 gene on chromosome 2q36.
Klein-Waardenburg syndrome
WS3
Waardenburg syndrome type III
Waardenburg syndrome with upper limb anomalies
A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutation in the MITF gene on chromosome 3p13.
WS2A
Waardenburg syndrome type IIA
A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 8p23.
WS2C
Waardenburg syndrome type IIC
A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in homozygous deletion of the SNAI2 gene on chromosome 8q11.
WS2D
Waardenburg syndrome type IID
A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22.
WS4A
Waardenburg syndrome type IVA
Waardenburg syndrome with Hirschsprung disease type 4A
A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13.
WS4B
Waardenburg syndrome type IVB
Waardenburg syndrome with Hirschsprung disease type 4B
A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous mutation in the SOX10 gene on chromosome 22q13.
WS4C
Waardenburg syndrome type IVC
Waardenburg syndrome with Hirschsprung disease type 4C
A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutations in the SOX10 gene on chromosome 22q13.
WS2E
WS2E with or without neurological involvement
Waardenburg syndrome type 2E with or without neurologic involvement
Waardenburg syndrome type IIE
hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation
A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_in a mutation of GBA on chromosome 1q22.
Acid Beta-Glucosidase Deficiency
GD I
Gaucher Disease, Noncerebral Juvenile
Gba Deficiency
Glucocerebrosidase Deficiency
A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22.
GD II
Gaucher Disease, Acute Neuronopathic Type
Infantile Cerebral Gaucher Disease
A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22.
GD III
Gaucher Disease, Chronic Neuronopathic Type
Gaucher Disease, Juvenile And Adult, Cerebral
Gaucher Disease, Subacute Neuronopathic Type
A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22.
Fetal Gaucher Disease
Gaucher Disease, Collodion Type
A Gaucher's disease that has_material_basis_in an autosomal recessive mutation of PSAP on chromosome 10q22.1.
atypical Gaucher's disease due to saposin c deficiency
A brachydactyly characterized by autosomal dominant inheritance of short thumbs and first toes with abduction of these digits, the shortening involves the metacarpals, metatarsals, and distal phalanges.
Christian brachydactyly
preaxial brachydactyly with hallux varus and thumb abduction
brachydactyly-preaxial hallux varus syndrome
A brachydactyly characterized by autosomal dominant inheritance of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals but normal stature.
Ballard type brachydactyly
Pitt-Williams brachydactyly
brachydactyly types B and E combined
A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes.
BDA1
Farabee type brachydactyly
A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12.
BDA2
Mohr-Wriedt type brachydactyly
brachymesophalangy II
A brachydactyly characterized by shortening of the middle phalanx of the fifth finger resulting in radial curvature of the fifth finger.
BDA3
brachydactyly-clinodactyly
brachymesophalangy V
A brachydactyly characterized by autosomal dominant inheritance of hypoplastic middle phalanges, brachymesophalangy affecting mainly the 2nd and 5th digits and congenital talipes calcaneovalgus.
BDA4
Temtamy type brachydactyly
brachymesophalangy II and V
A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions.
BDA6
Osebold-Remondini syndrome
brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities
A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has_material_basis_in heterozygous mutation in the ROR2 gene on chromosome 9q22.
BDB1
A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11.
BDC
A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has_material_basis_in mutation in the HOXD13 gene on chromosome 2q31.1.
BDD
A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.
BDE1
A brachydactyly characterized by short, abducted thumbs and great toes.
Mononen type brachydactyly
short and abducted thumbs and great toes
A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2.
BDA1B
A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22.
BDB2
A characterized byautosomal dominant inheritance of short stature, tooth abnormaities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p.
BDE2
A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11.
BDA1C
A brachydactyly type A1 that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q22.
BDA1D
A brachydactyly characterized by a nonarticulating great toe set dorsal and proximal to the typical position.
brachydactyly with major proximal phalangeal shortening
A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34.
CORS1
CPD4
JBTS1
cerebellooculorenal syndrome 1
cerebelloparenchymal disorder IV
A Joubert syndrome that has_material_basis_in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2.
JBTS10
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24.
JBTS13
A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33.
JBTS14
A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32.
JBTS15
A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q.
JBTS16
A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13.
JBTS17
A Joubert syndrome that has_material_basis_in homozygous mutation in the TCTN3 gene on chromosome 10q24.
JBTS18
A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2.
CORS2
JBTS2
cerebellooculorenal syndrome 2
A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23.
JBTS20
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13.
JBTS21
A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37.
JBTS22
A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23.
JBTS23
A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24.
JBTS24
A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36.
JBTS25
A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12.
JBTS26
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11.
JBTS27
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23.
JBTS28
A Joubert syndrome that has_material_basis_in homozygous mutation in the AHI1 gene on chromosome 6q23.3.
JBTS3
A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13.
JBTS4
A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.
JBTS5
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 on chromosome 8q22.
JBTS6
A Joubert syndrome that has_material_basis_in mutation in the RPGRIP1L gene on chromosome 16q12.2.
JBTS7
A Joubert syndrome that has_material_basis_in mutation in the ARL13B gene on chromosome 3q11.1-q11.2.
JBTS8
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15.
JBTS9
A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13.
CORD2
CRD2
RCRD2
cone-rod retinal dystrophy 2
retinal cone-rod dystrophy 2
A cone-rod dystrophy that has_material_basis_in variation in the chromosome region Xq27.
COD2
CORDX2
X-linked cone dystrophy 2
A cone-rod dystrophy that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.
CORDX3
A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11.
COD1
CORDX1
X-linked cone dystrophy 1
A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 18q21.1-q21.3.
CORD1
CRD1
A cone-rod dystrophy that has_material_basis_in mutation in the PITPNM3 gene in chromosome region 17p13.2-p13.1.
CORD5
A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the GUCY2D gene on chromosome 17p13.1.
CORD6
RCD2
retinal cone dystrophy 2
A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the RIMS1 gene on chromosome 6q13.
CORD7
A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 on chromosome 1p22.
CORD3
A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 1q12-q24.
CORD8
A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the RLBP1 gene on chromosome 15q26.
NFRCD
A cone-rod dystrophy that has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11.2.
CORD13
A cone-rod dystrophy that has_material_basis_in compound heterozygous mutation in the SEMA4A gene on chromosome 1q22.
CORD10
A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the RAX2 gene on chromosome 19p13.
CORD11
A cone-rod dystrophy that has_material_basis_in homozygous or heterozygous mutation in the PROM1 gene on chromosome 4p15.
CORD12
A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM9 gene on chromosome 8p11.
CORD9
A cone-rod dystrophy that has_material_basis_in homozygous mutation in the CDHR1 gene on chromosome 10q23.
CORD15
A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22.
CORD16
retinal dystrophy with early macular involvement
A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 10q26.
CORD17
A cone-rod dystrophy that has_material_basis_in homozygous mutation in the RAB28 gene on chromosome 4p15.
CORD18
A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TTLL5 gene on chromosome 14q24.
CORD19
A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POC1B gene on chromosome 12q21.
CORD20
A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21.
HFE2A
A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32.
HFE4
autosomal dominant hereditary hemochromatosis
ferroportin disease
hemochromatosis due to defect in ferroportin
A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22.
HFE1
symptomatic form of HFE-related hereditary hemochromatosis
symptomatic form of classic hemochromatosis
symptomatic form of hemochromatosis type 1
A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22.
HFE3
TFR2-related hemochromatosis
hemochromatosis due to defect in transferrin receptor 2
A hemochromatosis that has_material_basis_in heterozygous mutation in the FTH1 gene on chromosome 11q12.
FTH1-associated iron overload
FTH1-related iron overload
HFE5
A hemochromatosis type 2 that has_material_basis_in homozygous mutation in the HAMP gene on chromosome 19q13.
HFE2B
A hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums.
Bantu siderosis
iron overload in Africa
A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis.
HFE2
JHH
juvenile hemochromatosis
A CADASIL characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.
autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1
A CADASIL characterized by stroke, transient ischemic attacks, cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities that has_material_basis_in heterozygous mutation in the HTRA1 gene on chromosome 10q26.
autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2
A hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type I, or liver disease that has_material_basis_in homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21.
GNMT deficiency
hypermethioninemia due to GNMT deficiency
hypermethioninemia due to glycine N-methyltransferase deficiency
A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has_material_basis_in homozygous mutation in the ADK gene on chromosome 10q22.
ADK hypermethioninemia
MRT8
autosomal recessive mental retardation 8
hypermethioninemia encephalopathy due to ADK deficiency
hypermethioninemia encephalopathy due to adenosine kinase deficiency
hypermethioninemia due to adenosine kinase deficiency
A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has_material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11.
hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13.
GSD IXd
GSD due to muscle phosphorylase kinase deficiency
GSD type 9D
GSD type 9E
GSD type IXd
GSD type IXe
GSD9D
X-linked muscke glycogenosis
glycogen storage disease due to muscle phosphorylase kinase deficiency
glycogen storage disease type 9D
glycogen storage disease type 9E
glycogen storage disease type IXd
glycogen storage disease type IXe
glycogenosis due to muscle phosphorylase kinase deficiency
glycogenosis type 9D
glycogenosis type 9E
glycogenosis type IXd
glycogenosis type IXe
muscle phosphorylase kinase deficiency
A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has_material_basis_in compound heterozygous mutation in the PHKB gene on chromosome 16q12.
GSD IXb
GSD due to liver and muscle phosphorylase kinase deficiency
GSD type 9B
GSD type IXb
GSD9B
glycogen storage disease type 9B
glycogen storage disease type IXb
glycogenosis due to liver and muscle phosphorylase kinase deficiency
glycogenosis type 9B
glycogenosis type IXb
A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22.
GSD type 9A
GSD type IXa
GSD9A
glycogen storage disease type 9A
glycogen storage disease type IXa
glycogenosis type 9A
glycogenosis type IXa
A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has_material_basis_in homozygous and compound heterozygous mutation in the PHKG2 gene on chromosome 16p11.
GSD type 9C
GSD type IXc
GSD9C
glycogen storage disease type 9C
glycogen storage disease type IXc
glycogenosis type 9C
glycogenosis type IXc
A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21.
BDPLT4
GPS
platelet alpha-granule deficiency
platelet-type bleeding disorder 4
A blood platelet disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has_material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2.
BDPLT9
GP Ia deficiency
collagen platelet receptor deficiency
glycoprotein Ia deficiency
A blood platelet disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has_material_basis_in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21.
BDPLT10
CD36 deficiency
platelet glycoprotein IV deficiency
A blood platelet disease characterized by autosomal dominant inheritance of defective platelet aggegation, epistaxis, ecchymoses, and prolonged bleeding times that has_material_basis_in mutation in the TBXAS1 gene on chromosome 7q34.
BDPLT14
thromboxane synthase deficiency
A blood platelet disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has_material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21.
BDPLT19
severe autosomal recessive macrothrombocytopenia
A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34.
BDPLT17
hereditary thrombasthenia-thrombocytopenia
A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degredation that has_material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22.
BDPLT5
factor V Quebec
platelet-type bleeding disorder 5
A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has_material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13.
BDPLT18
bleeding disorder due to CalDAG-GEFI deficiency
bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency
A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has_material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12.
BDPLT7
SCTS
bleeding abnormality due to deficiency of platelet biding of factor X
familial prothrombin consumption inhibitor
familial prothrombin conversion defect
platelet-type bleeding disorder 7
prothrombin consumption deficiency
A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q.
BDPLT15
autosomal dominant macrothrombocytopenia ACTN1-related
A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has_material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13.
VWD type 3
VWD3
von Willebrand disease type 3
von Willebrand disease type III
A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12.
BDPLT20
autosomal dominant thrombocytopenia with platelet secretion defect
A blood platelet disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has_material_basis_in mutation in the GP1BA gene on chromosome 17p13.2.
BDPLT3
PT-VWD
platelet type-von Willebrand disease
pseudo-von Willebrand disease
von Willebrand disease platelet-type
A blood platelet disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has_material_basis_in compound heterozygous mutation in the GP6 gene on chromosome 19q13.
BDPLT11
GP VI deficiency
glycoprotein VI deficiency
A blood platelet disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity.
BDPLT12
PGHS1 deficiency
platelet COX1 deficiency
platelet cyclooxygenase 1 deficiency
platelet prostaglandin-endoperoxide synthase 1 deficiency
A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has_material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p.
BSSA2
A hypertrichosis characterized by autosomal dominant inheritance of the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes that has_material_basis_in chromosomal abnormalities in the region 8q22.
Ambras syndrome
HTC1
Ambras type hypertrichosis universalis congenita
A hypobetalipoproteinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31.
FHBL2
combined familial hypolipidemia
A hypobetalipoproteinemia that has_material_basis_in mutation in the APOB gene on chromosome 2p24.
FHBL1
A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene.
HFTC
HHS
PHPTC
cortical hyperostosis with hyperphosphatemia
familial Teutschlaender disease
familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
hypercalcemic tumoral calcinosis
hyperostosis with hyperphosphatemia
hyperphosphatemia hyperostosis
hyperphosphatemia hyperostosis syndrome
hyperphosphatemia tumoral calcinosis
lipocalcinogranulomatosis
morbus Teutschlaender
primary hyperphosphatemic tumoral calcinosis
tumoral calcinosis with hyperphosphatemia
hyperphosphatemic familial tumoral calcinosis
A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.
DSMA1
SIANRF
SMARD1
autosomal recessive distal spinal muscular atrophy 1
autosomal recessive spinal muscular atrophy with respiratory distress
dHMN6
diaphragmatic spinal muscular atrophy
distal hereditary motor neuropathy type 6
distal-HMN type 6
severe infantile axonal neuropathy with respiratory failure type 1
spinal muscular atrophy with respiratory distress type 1
A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13.
DSMA2
autosomal recessive distal spinal muscular atrophy 2
dHMNJ
distal hereditary motor neuropathy Jerash type
spinal muscular atrophy Jerash type
A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21.
CBAS5
A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14.
CBAS6
A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.
CBAS4
intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid
trihydroxycoprostanic acid in bile
A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33.
CBAS2
cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12.
CBAS3
oxysterol 7-alpha-hydroxylase deficiency
A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p.
CBAS1
A muscle tissue disease characterized by increased muscle bulk and strength that has_material_basis_in homozygous mutation in the MSTN gene on chromosome 2q32.2.
MSLHP
A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as shortness of breath, dizziness, syncope, abdominal pain, heart failure or sudden death.
PFHB
familial Lenegre disease
familial Lev disease
familial Lev-Lenegre disease
familial PCCD
familial progressive heart block
hereditary bundle branch defect
A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has_material_basis_in mutation in the SCN5A gene on chromosome 3p21.
PFHB1A
progressive familial heart block type IA
A progressive familial heart block characterized by autosomal dominant inheritance of heart block that tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes that has_material_basis_in variation in the chromosome region 1q32.
PFHB2
progressive familial heart block type II
A progressive familial heart block characterized by that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13.
PFHB1B
progressive familial heart block type IB
A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22.
PK deficiency
hemolytic anemia due to red cell pyruvate kinase deficiency
pyruvate kinase deficiency of erythrocyte
A distal muscular dystrophy characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior comparment of the legs that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31.
Finnish tibial muscular dystrophy
TMD
Tardive tibial muscular dystrophy
Udd myopathy
Udd type distal myopathy
distal titinopathy
A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia.
BSCR
birdshot chorioretinitis
birdshot retinochoroiditis
birdshot retinochoroidopathy
vitiliginous choroiditis
A Fanconi anemia that has_material_basis_in homozygous mutation in the MAD2L2 gene on chromosome 1p36.
FANCV
A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the UBE2T gene on chromosome 1q32.
FANCT
A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16.
FANCL
A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25.
FA4
FAD2
FANCD2
Fanconi pancytopenia type 4
A Fanconi anemia that has_material_basis_in homozygous mutation in the FANCE gene on chromosome 6p22-p21.
FACE
FANCE
A Fanconi anemia that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36.
FANCU
A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC9 gene on chromosome 9p13.
FANCG
A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCC gene on chromosome 9q22.
FA3
FACC
FANCC
Fanconi pancytopenia type 3
A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCF gene on chromosome 11p15.
FANCF
A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13.
FAD1
FANCD1
A Fanconi anemia that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15.
FANCR
A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCI gene on chromosome 15q26.
FANCI
A Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the SLX4 gene on chromosome 16p13.3.
FANCP
A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the ERCC4 gene on chromosome 16p13.
FANCQ
A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the PALB2 gene on chromosome 16p12.
FANCN
A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCA gene on chromosome 16q24.
FANCA
A Fanconi anemia that has_material_basis_in homozygous mutation in the RAD51C gene on chromosome 17q21-q24.
FANCO
A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22.
FANCJ
A Fanconi anemia that has_material_basis_in mutation in the FANCB gene on chromosome Xp22.
FACB
FANCB
Fanconi pancytopenia type 2
A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF4A gene on chromosome 20.
Diabetes Mellitus Type 2
MODY type 1
MODY1
mild juvenile diabetes mellitus
maturity-onset diabetes of the young type 1
A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the GCK gene on chromosome 7p13.
MODY glucokinase-related
MODY type 2
MODY2
maturity-onset diabetes of the young type 2
A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the HNF1B gene on chromosome 17q12.
CAKUT with diabetes
MODY5
RCAD
atypical FJHN
atypical familial juvenile hyperuricemic nephropathy
congenital anomalies of the kidney and urinary tract with diabetes
familial hypoplastic glomerulocystic kidney
hypoplastic type glomerulocystic kidney disease
renal cysts and diabetes syndrome
maturity-onset diabetes of the young type 5
A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF1A gene on chromosome 12q24.31.
MODY type 3
MODY3
maturity-onset diabetes of the young type 3
A maturity-onset diabetes of the young that has_material_basis_in mutation in the PDX1 gene on chromosome 13q12.2.
MODY type 4
MODY4
maturity-onset diabetes of the young type 4
A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the NEUROD1 gene on chromosome 2q31.
MODY type 6
MODY6
maturity-onset diabetes of the young type 6
A maturity-onset diabetes of the young that has_material_basis_in frameshift deletions in the variable number of tandem repeats of the CEL gene om chromosome 9q34.13.
MODY type 8
MODY8
diabetes and pancreatic exocrine
maturity-onset diabetes of the young type 8 with exocrine dysfunction
maturity-onset diabetes of the young type 8
A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KLF11 gene on chromosome 2p25.
MODY7
maturity-onset diabetes of the young type 7
A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the PAX4 gene on chromosome 7q32.1.
MODY9
maturity-onset diabetes of the young type 9
A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the INS gene on chromosome 11p15.5.
MODY10
maturity-onset diabetes of the young type 10
A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the BLK gene on chromosome 8p23-p22.
MODY11
maturity-onset diabetes of the young type 11
A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15.
MODY type 13
MODY13
maturity-onset diabetes of the young type 13
A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the APPL1 gene on chromosome 3p14.
MODY14
maturity-onset diabetes of the young type 14
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13.
NPH1
NPHP1
juvenile nephronophthisis 1
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31.
NPH2
NPHP2
infantile nephronophthisis 2
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the NPHP3 gene on chromosome 3q22.
NPH3
NPHP3
A nephronophthisis that has_material_basis_in mutation in the NPHP4 gene on chromosome 1p36.31.
NPHP4
juvenile nephronophthisis 4
A nephronophthisis that has_material_basis_in homozygous mutation in the GLIS2 gene on chromosome 16p13.
NPHP7
A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2.
NPHPL1
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1.
NPHP11
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24.
NPHP12
A nephronophthisis that has_material_basis_in homozygous mutation in the NEK8 gene on chromosome 17q11.
NPHP9
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14.
NPHP13
A nephronophthisis that has_material_basis_in homozygous mutation in the ZNF423 gene on chromosome 16q12.1.
NPHP14
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP164 gene on chromosome 11q.
NPHP15
A nephronophthisis that has_material_basis_in homozygous mutation in the ANKS6 gene on chromosome 9q22.
NPHP16
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22.
NPHP18
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the DCDC2 gene on chromosome 6p22.
NPHP19
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15.
NPHP20
A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of ACTN4 on chromosome 19q13.2.
FSGS1
A focal segmental glomerulosclerosis that has_material_basis_in a mutation of TRPC6 on chromosome 11q22.1.
FSGS2
A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of INF2 on chromosome 14q32.33.
FSGS5
A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of MYO1E on chromosome 15q22.2.
FSGS6
A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of PAX2 on chromosome 10q24.31.
FSGS7
A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of ANLN on chromosome 7p14.2.
FSGS8
A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of CRB2 on chromosome 9q33.3.
FSGS9
A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3.
Berardinelli-Seip Congenital Lipodystrophy, Type 1
Brunzell syndrome AGPAT2-related
congenital generalized lipodystrophy type 1
A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3.
Berardinelli-Seip congenital lipodystrophy type 2
Berardinelli-Seip syndrome
Brunzell syndrome BSCL2-related
CGL2
congenital lipoatrophic diabetes
total lipodystrophy and acromegaloid gigantism
congenital generalized lipodystrophy type 2
A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2.
Berardinelli-Seip congenital lipodystrophy type 3
congenital generalized lipodystrophy type 3
A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2.
Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy
congenital generalised lipodystrophy type 4
generalised congenital lipodystrophy type 4
generalised congenital lipodystrophy with myopathy
generalized congenital lipodystrophy type 4
generalized congenital lipodystrophy with myopathy
congenital generalized lipodystrophy type 4
A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial respiratory chain complex III.
A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26.
CHTE
X-linked central congenital hypothyroidism with late-onset macroorchidism
X-linked central congenital hypothyroidism with late-onset testicular enlargement
central hypothyroidism and testicular enlargement
A sleep disorder characterized by an extreme evening preference, sleep-onset insomnia, and difficulty in awakening at the desired time.
DSPD
A renal hypoplasia characterized by bilateral reduced kidney size with a marked decrease in the total number of nephrons.
Oligomeganephronic renal hypoplasia
A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial proton-transporting ATP synthase complex.
mitochondrial complex V (ATP synthase) deficiency
A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation.
PPROM
preterm premature rupture of the membranes
A urinary tract obstruction characterized by a blockage at the renal pelvis where the kidney attaches to the ureter.
A blood coagulation disease characterized by development of a defect in clotting in the absence of previous bleeding symptoms, negative familial history, and occurrence in a relatively older age. Typically this develops secondarily to other disorders, such as lymphoproliferative, myeloproliferative, cardiovascular and autoimmune disorders.
AVWS
A peripheral T-cell lymphoma characterized by autoimmune features and poor prognosis.
A lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. This dislocation may be mild to severe and may progress with age.
IEL
familial ectopia lentis
An isolated ectopia lentis that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.
ECTOL2
autosomal recessive isolated ectopia lentis 2
An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.
ECTOL1
autosomal dominant isolated ectopia lentis 1
A coronary artery vasospasm characterized by spasms of the coronary arteries that occur while at rest, generally late at night or early in the morning, resulting in severe chest pain with preserved exercise capacity.
Prinzmetal's angina
Prinzmetal's variant angina
angina inversa
variant angina
variant angina pectoris
A Castleman disease characterized by systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6.
MCD
PMCD
multicentric giant lymph node hyperplasia
plasmablastic multicentric Castleman disease
A movement disease characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side primarily involving the upper limbs.
familial congenital controlateral synkinesia
familial congenital mirror movements
hereditary congenital controlateral synkinesia
hereditary congenital mirror movements
isolated congenital controlateral synkinesia
isolated congenital mirror movements
A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2.
familial orthostatic tachycardia due to norepinephrine transporter deficiency
irritable heart
mitral valve prolapse syndrome
neurocirculatory asthenia
orhtostatic intolerance
orthostatic intolerance due to NET deficiency
postural tachycardia syndrome due to NET deficiency
soldiers heart
postural orthostatic tachycardia syndrome
An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13.
SCAR21
acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
autosomal recessive spinocerebellar ataxia 21 with hepatopathy
autosomal recessive spinocerebellar ataxia 21
A male infertility characterized by round-headed spermatozoa lacking an acrosome and that has_material_basis_in autosomal recessive inheritance in a mutation in the DPY19L2 gene on chromosome 12q14.
globozoospermia
male infertility due to globozoospermia
male infertility due to round-headed spermatozoa
A lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically.
angiofollicular lymph hyperplasia
angiofollicular lymph node hyperplasia
giant lymph node hyperplasia
lymphoid hamartoma
A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16.
SADDAN dysplasia
severe achondroplasia with developmental delay and acanthosis nigricans
A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has_material_basis_in duplication of the distal portion of chromosome 4q.
Chromosome 4, Partial Trisomy 4q
Distal 4q Trisomy
Dup(4q) Syndrome, Partial
Duplication 4q Syndrome, Partial
Partial Trisomy 4q Syndrome
A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16.
CATSHL syndrome
camptodactyly-tall stature-scoliosis-hearing loss syndrome
A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16.
CAN
Crouzon-dermoskeletal syndrome
Crouzonodermoskeletal syndrome
Crouzon syndrome-acanthosis nigricans syndrome
A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth.
nonepidermolytic keratinocytic nevus
A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11.
MOCOD type B
MOCODB
combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B
molybdenum cofactor deficiency complementation group B
A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21.
MOCOD type A
MOCODA
combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A
molybdenum cofactor deficiency complementation group A
A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage.
MOCOD
combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase
A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the GPHN gene on chromosome 14q23.
MOCOD type C
MOCODC
combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C
molybdenum cofactor deficiency complementation group C
A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21.
DMC disease
pseudo-Morquio disease type I
A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency.
DRD due to SRD
SPR deficiency
SRD
dopa-responsive dystonia due to sepiapterin reductase deficiency
A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex.
HeCo
band heterotopia
double cortex syndrome
heterotopic cortex
subcortical laminar heterotopia
A hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that has_material_basis_in heterozygous mutations in the RNF170 gene on chromosome 8.
ADSA
SNAX1
A Leigh disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of leasions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21.
French Canadian type COX deficiency
French Canadian type Leigh syndrome
French Canadian type cytochrome c oxidase deficiency
Saguenay Lac saint Jean type COX deficiency
Saguenay Lac saint Jean type Leigh syndrome
A familial hemiplegic migraine that is commonly associated with cerebellar degeneration and has_material_basis_in heterozygous mutation in CACNA1A on 19p13.
FHM1
MHP1
familial hemiplegic migraine1 with progressive cerebellar ataxia
A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in ATP1A2 on 1q23.2.
FHM2
Familial hemiplegic migraine-2
MHP2
A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in SCN1A on 2q24.3.
FHM3
MHP3
A myopathy, lactic acidosis, and sideroblastic anemia characterized by early infantile onset of transfusion-dependent sideroblastic anemia with failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay that has_material_basis_in heteroplasmic mutation in MTATP6 encoded by nucleotides 8527-9207 of the mitochondrial genome.
MLASA3
myopathy, lactic acidosis, and sideroblastic anemia 3
A myopathy, lactic acidosis, and sideroblastic anemia that has_material_basis_in homozygous or compound heterozygous mutation in PUS1 on 12q24.
MLASA1
myopathy, lactic acidosis, and sideroblastic anemia 1
A myopathy, lactic acidosis, and sideroblastic anemia characterized by marked phenotypic variablity in time of onset and severity of symptoms that has_material_basis_in homozyous or compound heterozygous mutation in YARS2 on 12p11.21.
MLASA2
myopathy, lactic acidosis, and sideroblastic anemia 2
A distal muscular dystrophy characterized by onset at 14-28 years of age starting first in the anterior tibial muscles and involving both upper and lower proximal muscles that has_material_basis_in homozygous or compound heterozygous mutation in DYSF on 2p13.
DMAT
distal muscular dystrophy with anterior tibial onset
A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31.
Edstrom myopathy
HIBM-ERF
HMERF
Hereditary inclusion body myopathy with early respiratory failure
MFM-titinopathy
MFM9
MPRM
Myofibrillar myopathy-titinopathy
autosomal dominant distal myopathy with early respiratory failure
hereditary myopathy with early respiratory failure
myofibrillar myopathy 9 with early respiratory failure
proximal myopathy with early respiratory muscle involvement
A distal muscular dystrophy that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22.
MPD3
distal myopathy 3
distal myopathy type 3
A distal muscular dystrophy that has_material_basis_in heterozygous mutation in FLNC on 7q32.
MPD4
distal ABD-filaminopathy
distal myopathy 4
distal myopathy with posterior leg and anterior hand involvement
A distal muscular dystrophy that has_material_basis_in heterozygous mutation in CAV3 on 3p25.
A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35.
FSHD1
facioscapulohumeral muscular dystrophy type 1
facioscapulohumeral muscular dystrophy type 1A
facioscapulohumeral muscular dystrophy 1
A facioscapulohumeral muscular dystrophy that has_material_basis_in digenic inheritance of a heterozygous mutation in SMCHDI on 18p11.32 and a haplotype on chromosome 4 that is permissive for DUX4 expression.
FSHD2
facioscapulohumeral muscular dystrophy 1B
facioscapulohumeral muscular dystrophy type 2
facioscapulohumeral muscular dystrophy 2
A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has_material_basis_in heterozygous mutation in VAPB on 20q13.
Finkel disease
Finkel late-adult type SMA
SMAFK
autosomal dominant adult proximal spinal muscular atrophy
autosomal dominant adult-onset proximal SMA
autosomal dominant late-onset spinal muscular atrophy, Finkel type
autosomal dominant adult-onset proximal spinal muscular atrophy
An erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3.
erythrokeratodermia variabilis et progressiva 1
A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1.
ATP7A-related distal motor neuropathy
DSMAX
SMAX3
X-linked dHMN3
X-linked dSMA3
X-linked distal hereditary motor neuropathy type 3
X-linked recessive distal spinal muscular atrophy
X-linked distal spinal muscular atrophy 3
A spinal muscular atrophy that has_material_basis_in autosomal recessive inheritance.
autosomal recessive distal spinal muscular atrophy
autosomal recessive distal hereditary motor neuronopathy
A spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance.
autosomal dominant dHMN
autosomal dominant distal hereditary motor neuropathy
autosomal dominant distal spinal muscular atrophy
autosomal dominant distal hereditary motor neuronopathy
An autosomal dominant distal hereditary motor neuronopathy characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis.
DHMNVPy
dHMN7
distal spinal muscular atrophy with vocal cord paralysis
distal hereditary motor neuronopathy type 7
An autosomal dominant distal hereditary motor neuronopathy characterized by slowly-progressive lower limb muscular weakness and atrophy, without sensory impairment that has_material_basis_in heterozygous mutation in locus in the 7q34-q36 chromosome region.
HMN I
autosomal dominant distal juvenile spinal muscular atrophy type 1
dHMN1
distal hereditary motor neuropathy type I
spinal Charcot-Marie-Tooth disease 1
distal hereditary motor neuronopathy type 1
A distal hereditary motor neuropathy type 7 characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis that has_material_basis_in heterozygous mutation in SLC5A7 on 2q12.3.
DHMN7A
HMN VIIA
HMN7A
Harper-Young myopath
distal hereditary motor neuropathy type VIIA
distal spinal muscular atrophy with vocal cord paralysis type 7A
distal hereditary motor neuronopathy type 7A
A distal hereditary motor neuropathy type 7 that has_material_basis_in heterozygous mutation in DCTN1 on 2p13.1.
DHMN7B
HMN VIIB
HMN7B
Harper-Young myopathy
distal hereditary motor neuropathy type VIIB
distal spinal muscular atrophy with vocal cord paralysis type 7B
distal hereditary motor neuronopathy type 7B
An autosomal dominant distal hereditary motor neuronopathy characterized by muscle weakness and wasting, predominantly confined to the hands, and often exclusively involve thenar and/or interosseus dorsalis I eminences.
DHMN5
DSMAV
HMN5
distal HMN V
distal hereditary motor neuropathy type V
distal spinal muscular atrophy type V
distal spinal muscular atrophy with upper limb predominance
distal hereditary motor neuronopathy type 5
A distal hereditary motor neuronopathy type 5 that has_material_basis_in heterozygous mutation in GARS on 7p14.3 or BSCL2 on 11q12.3.
distal HMN VA
distal spinal muscular atrophy type VA
distal hereditary motor neuronopathy type 5A
A distal hereditary motor neuronopathy type 5 that has_material_basis_in heterozygous mutation in REEP1 on 2p11.2.
distal HMN VB
distal spinal muscular atrophy type VB
distal hereditary motor neuronopathy type 5B
An autosomal dominant distal hereditary motor neuronopathy characterized by adult onset of slowly progressive distal atrophy and weakness.
HMN II
HMN2
distal hereditary motor neuropathy type II
distal hereditary motor neuronopathy type 2
A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB1 on 7q11.23.
HMN IIB
HMN2B
distal hereditary motor neuropathy type IIB
distal hereditary motor neuropathy type 2B
A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB8 on 12q24.23.
HMN IIA
HMN2A
autosomal dominant adult spinal muscular atrophy IIA
distal hereditary motor neuropathy type IIA
spinal Charcot-Marie-Tooth disease IIA
distal hereditary motor neuronopathy type 2A
A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB3 on 5q11.2.
DHMN2C
HMN IIC
HMN2C
distal hereditary motor neuropathy type IIC
distal hereditary motor neuronopathy type 2C
A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in FBXO38 on 5q32.
HMN IID
HMN2D
distal hereditary motor neuropathy type IID
distal spinal muscular atrophy with calf predominance
distal hereditary motor neuronopathy type 2D
An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and wasting with variable severity that has_material_basis_in homozygous mutation in a 2.6-cM region of chromosome 11q13.3.
autosomal recessive distal spinal muscular atrophy type 3
dHMN3 and dHMN4
dSMA3
distal hereditary motor neuropathy type 3 and type 4
An autosomal domiant distal hereditary motor neuronopathy characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs that has_material_basis_in heterozygous mutation in WARS on 14q32.2.
DHMN9
HMN9
distal hereditary motor neuropathy type IX
distal hereditary motor neuronopathy type 9
An autosomal recessive distal hereditary motor neuronopathy characterized by onset in early childhood of rapidly progressing proximal muscle weakness with an early involvement of foot and hand muscles that has_material_basis_in homozygous or compound heterozygous mutation in PLEKHG5 on 1p36.31.
DSMA4
autosomal recessive distal spinal muscular atrophy type 4
autosomal recessive lower motor neuron disease with childhood onset
A autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35.
DSMA5
autosomal recessive distal spinal muscular atrophy type 5
young adult-onset dHMN
young adult-onset distal hereditary motor neuropathy
A autosomal dominant distal hereditary motor neuronopathy characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable serverity that has_material_basis_in heterozygous mutation in TRPV4 on 12q24.11.
DHMN8
HMN8
autosomal dominant benign distal spinal muscular atrophy
autosomal dominant congenital benign spinal muscular atrophy
congenital benign spinal muscular atrophy with contractures
congenital nonprogressive spinal muscular atrophy
distal hereditary motor neuropathy type VIII
distal hereditary motor neuronopathy type 8
A centronuclear myopathy that has_material_basis_in autosomal recessive inheritance.
AR-CNM
autosomal recessive centronuclear myopathy
A centronuclear myopathy that has_material_basis_in autosomal dominant inheritance.
AD-CNM
autosomal dominant centronuclear myopathy
A Friedreich ataxia that has_material_basis_in homozygous or compound heterozygous mutation in FXN on 9q21.1.
FA1
FRDA1
A Friedreich ataxia that has_material_basis_in mutation in the 9p23-p11 chromosome region.
FRDA2
An autosomal recessive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in BIN1 on 2q14.3.
CNM2
A congenital fiber-type disproportion characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in ZAK on 2q31.1.
CNM6
centronuclear myopathy 6 with fiber-type disproportion
An autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that has_material_basis_in homozygous or compound heterozygous mutation in SPEG on 2q35.
CNM5
An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2.
CNM1
An autosomal dominant centronuclear myopathy that has_material_basis_in heterozygous mutation in CCDC78 on 16p13.3.
CNM4
A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28.
CNMX
MTM1
X-linked myotubular myopathy
XLCNM
XLMTM
myotubular myopathy 1
A congenital fiber-type disproportion characterized by bilateral ptosis, facial weakness, impaired suckling, generalized hypotonia, and respiratory insufficiency that has_material_basis_in mutation in the chromosome region Xq13.1-q22.1.
CFTDX
X-linked congenital myopathy with fiber-type disproportion
A frontotemporal dementia that has_material_basis_in heterozygous mutation in CHMP2B on 3p11.2.
FTD3
chromosome 3-linked frontotemporal dementia
An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has_material_basis_in heterozygous mutation in TEAD1 on 11p15.3.
HPCD
SCRA
atrophia areata
helicoid peripapillary chorioretinal degeneration
peripapillary chorioretinal degeneration, Icelandic type
A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing.
MDDGA
congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
klissencephaly type 2 with muscular and ocular involvement
congenital muscular dystrophy-dystroglycanopathy type A
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3.
MDDGA11
Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11
congenital muscular dystrophy-dystroglycanopathy type A11
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1.
MDDGA8
Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8
congenital muscular dystrophy-dystroglycanopathy type A8
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in DAG1 on 3p21.31.
MDDGA9
Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9
congenital muscular dystrophy-dystroglycanopathy type A9
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31.
MDDGA14
Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14
congenital muscular dystrophy-dystroglycanopathy A14
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1.
MDDGA7
Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7
congenital muscular dystrophy-dystroglycanopathy A7
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21.
MDDGA12
Walker-Warburg syndrome or muscle-eye-brain disease POMK-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12
congenital muscular dystrophy-dystroglycanopathy type A12
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1.
MDDGA3
Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3
congenital muscular dystrophy-dystroglycanopathy type A3
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13.
MDDGA1
Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1
congenital muscular dystrophy-dystroglycanopathy type A1
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2.
MDDGA13
Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related
Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13
congenital muscular dystrophy-dystroglycanopathy type A13
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2.
MDDGA10
Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10
congenital muscular dystrophy-dystroglycanopathy type A10
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3.
MDDGA2
Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2
congenital muscular dystrophy-dystroglycanopathy type A2
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32.
MDDGA5
Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
congenital muscular dystrophy-dystroglycanopathy type A5
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3.
MDDGA6
Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6
congenital muscular dystrophy-dystroglycanopathy type A6
An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1.
ACMICD
acromicric skeletal dysplasia
An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31.
PPK-CA, Stevanovic type
PPKCA Stevanovic type
PPKCA1
autosomal dominant palmoplantar hyperkeratosis and congenital alopecia
autosomal dominant palmoplantar keratoderma and congenital alopecia
keratoderma-hypotrichosis-leukonychia totalis syndrome
palmoplantar keratoderma and congenital alopecia, Stevanovic type
palmoplantar keratoderma and congenital alopecia 1
An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation.
CASS
PPK-CA, Wallis type
PPKCA Wallis type
PPKCA2
autosomal recessive palmoplantar hyperkeratosis and congenital alopecia
autosomal recessive palmoplantar keratoderma and congenital alopecia
cataract-alopecia-sclerodactyly syndrome
palmoplantar keratoderma and congenital alopecia, Wallis type
palmoplantar keratoderma and congenital alopecia 2
A neurodegenerative disease characterized by chronic, progressive amyotrophic lateral sclerosis and parkinsonism-dementia. Susceptibility to this disease is influenced by heterozygous mutation in TRPM7 on 15q21.2.
ALS-PDC
Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome
Guam disease
Lytico-Bodig disease
PDALS
amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam
parkinsonism-dementia-ALS complex
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and increased risk of stroke when untreated that has_material_basis_in heterozygous mutation in PDE3A on 12p12.2.
Bilginturan brachydactyly
Bilginturan syndrome
HTNB
brachydactyly with hypertension
type E brachydactyly with short stature and hypertension
A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in SNRPB on 20p13.
CCM syndrome
CCMS
cerebro-costo-mandibular syndrome
rib gap defects with micrognathia
A syndrome characterized by uveal coloboma and variable degrees of orofacial clefting, intellectual disability, and hearing impairment that has_material_basis_in heterozygous mutation in YAP1 on 11q22.1.
COB1
Uveal coloboma-cleft lip/palate-mental retardation syndrome
coloboma-microphthalmos syndrome
coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate
ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation
uveal coloboma-cleft lip and palate-intellectual disability
A late onset Parkinson's disease characterized by mean age of onset of 59 years and that has_material_basis_in mutation in a locus in the 2p13 chromosome region.
PARK3
Parkinson disease 3
autosomal dominant Lewy body Parkinson disease 3
autosomal dominant Parkinson disease 3
A late onset Parkinson's disease characterized by autosomal dominant inheritance and mean age of onset at 67 years.
PARK21
Parkinson disease 21
A neurofibromatosis characterized by usually bilateral tumors of the eighth cranial nerve, meningiomas of the brain, and schwannomas of the dorsal roots of the spinal cord that has_material_basis_in heterozygous of mutation in NF2 on 22q12.2.
ACN
BANF
NF2
bilateral acoustic neurinoma
bilateral acoustic neurofibromatosis
bilateral acoustic schwannomas
central neurofibromatosis
familial acoustic neuromas
neurofibromatosis type II
A neurofibromatosis classically characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin or in some cases by a high load of spinal tumors that has_material_basis_in heterozygous mutation in NF1 on 17q11.2.
FSNF
NF1
Peripheral Neurofibromatosis
familial spinal neurofibromatosis
neurofibromatosis type I
von Recklinghausen Disease
An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in GCDH on chromosome 19p13.
GA1
glutaric academia type 1
glutaric aciduria 1
glutaric aciduria type I
glutaryl-coA dehydrogenase deficiency
glutaryl-coenzyme A dehydrogenase deficiency
A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2.
HMCS
Kaufman McKusick syndrome
MKKS
hydrometrocolpos syndrome
hydrometrocolpos, postaxial polydactyly, and congenital heart malformation
hydrometrocolpos-postaxial polydactyly syndrome
A syndrome characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that has_material_basis_in heterozygous mutation in the iron responsive element in the 5-prime noncoding region of FTL on 19q13.33.
Bonneau-Beaumont syndrome
HHCS
HRFTC
cataract-hyperferritinemia syndrome
hereditary hyperferritinemia with congenital cataracts
hereditary hyperferritinemia-cataract syndrome
hyperferritinemia with or without cataract
An amino acid metabolic disorder characterized by accumulation of glutathione in the plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in GGT1 on 22q11.23.
GGT deficiency
GGT1 deficiency
GTG deficiency
gamma-glutamyl transferase deficiency
glutathionuria
gamma-glutamyl transpeptidase deficiency
An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3.
L-xylulose reductase deficiency
L-xylulosuria
PNTSU
essential pentosuria
xylitol dehydrogenase deficiency
A syndrome characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, cup-shaped ears, and supernumerary nipples that has_material_basis_in homozygous or compound heterozygous mutation in DHODH on 16q22.2.
Miller syndrome
POADS
Postaxial acrodysostosis
acrofacial dysostosis, Genee-Wiedmann type
mandibulfacial dysostosis with postaxial limb anomalies
An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset.
PRPP synthetase superactivity
PRPS1 superactivity
phosphoribosylpyrophosphate synthetase superactivity
An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in FH on 1q43.
FMRD
fumaric aciduria
A brain disease characterized by cerebral and cerebellar atrophy, postnatal progressive microcephaly and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in MED17 on 11q21.
postnatal progressive microcephaly, seizures, and brain atrophy
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3.
CMAMMA
combined malonic and methylmalonic aciduria
combined malonic and methylmalonic acidemia
A syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma that has_material_basis_in homozygous or compound heterozygous mutation in SPRTN on 1q42.2.
progeroid features-hepatocellular carcinoma predisposition syndrome
A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2.
ataxia-hypogonadism-choroidal dystrophy syndrome
A syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit that has_material_basis_in homozygous or compound heterozygous mutation in GORAB on 1q24.2.
Walt Disney dwarfism
geroderma osteodysplastica
gerodermia osteodysplastica
A congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that has_material_basis_in mutation in MYH7 on 14q11.2.
myosin storage myopathy
A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2.
MSMB
Myopathy, myosin storage, autosomal recessive
autosomal recessive hyaline body myopathy
A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2.
MSMA
Myopathy, myosin storage, autosomal dominant
myopathy with lysis of type I myofibrils
autosomal dominant hyaline body myopathy
An inherited metabolic disorder characterized by increased sulfite in the urine with markedly decreased inorganic sulfate excretion and resulting in variable phenotypes ranging from severe early onset disease to late-onset, milder disease that has_material_basis_in homozygous or compound heterozygous mutation in SUOX on 12q13.2.
sulfocysteinuria
A syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2.
OMCS
eyelashes long mental retardation
long eyelashes-intellectual disability syndrome
trichomegaly-retina pigmentary degeneration-dwarfism syndrome
A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in X-linked recessive inheritance of mutations in ATP7A on Xq21.1. This disorder is allelic to Menkes disease.
EDS IX
Ehlers-Danlos syndrome type 9
Ehlers-Danlos syndrome type IX
X-linked cutis laxa
A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6.
Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome
Neuropathy-ataxia-retinitis pigmentosa syndrome
neuropathy, ataxia and retinitis pigmentosa
A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3.
cerebral, ocular, dental, auricular, and skeletal syndrome
cerebro-oculo-dento-auriculo-skeletal syndrome
A speech disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech that has_material_basis_in heterozygous mutation in FOXP2 on 7q31.1.
CAS
articulatory apraxia
childhood apraxia of speech
developmental apraxia of speech
developmental verbal dyspraxia
speech and language disorder with orofacial dyspraxia
speech-language disorder type 1
A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1.
SANDO
autosomal recessive sensory ataxic neuropathy with mitochondrial DNA deletions
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from servere neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in either of the subunits of the mitochondrial trifunctional protein; HADHA or HADHB on 2p23.3.
MTPD
TFP deficiency
TFPD
mitochondrial trifunctional protein deficiency
A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome.
Faisalabad histiocytosis
H syndrome
HJCD
PHID
SHML
cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss
familial Rosai-Dorfman disease
histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness
histiocytosis with joint contractures and sensorineural deafness
pigmented hypertrichosis with insulin-dependent diabetes mellitus
sinus histiocytosis and massive lymphadenopathy
histiocytosis-lymphadenopathy plus syndrome
A psoriasis that has_material_basis_in variation in a region on chromosome 1p that includes IL23R.
PSORS7
A psoriasis that has_material_basis_in variation in a region on chromosome 1q21.
PSORS4
A psoriasis characterized by pustular psoriasis that has_material_basis_in heterozygous mutation in AP1S3 on chromosome 2q36.1.
PSORS15
A psoriasis that has_material_basis_in variation in a region on chromosome 3q21.
PSORS5
A psoriasis that has_material_basis_in variation in a region on chromosome 4q.
PSORS3
A psoriasis that has_material_basis_in variation in a region on chromosome 4q31-q34.
PSORS9
A psoriasis that has_material_basis_in variation in a region on chromosome 5q31.1-q33.1 that includes IL12B.
PSORS11
A psoriasis that has_material_basis_in variation in HLA-C on chromosome 6p21.33.
PSORS1
A psoriasis that has_material_basis_in variation in TRAF3IP2 on chromosome 6q21.
PSORS13
A psoriasis that has_material_basis_in variation in a region on chromosome 16q. This region overlaps one that is associated with inflammatory bowel disease 1 disease.
PSORS8
A psoriasis that has_material_basis_in variation in a region on chromosome 18p11.23.
PSORS10
A psoriasis that has_material_basis_in variation in a region on chromosome 19p13 that includes BSG.
PSORS6
A psoriasis that has_material_basis_in variation in a region on chromosome 20q13 that includes RNF114.
PSORS12
An idiopathic generalized epilepsy that has_material_basis_in variation in the GABRD on chromosome 1p36.33.
EIG10
A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 2p24.
GEFS+4
GEFSP4
generalised epilepsy with febrile seizures plus 4
generalised epilepsy with febrile seizures plus type 4
generalized epilepsy with febrile seizures plus type 4
generalized epilepsy with febrile seizures plus 4
A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1A on chromosome 2q24.3.
GEFS+2
GEFSP2
generalised epilepsy with febrile seizures plus 2
generalised epilepsy with febrile seizures plus type 2
generalized epilepsy with febrile seizures plus type 2
generalized epilepsy with febrile seizures plus 2
A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN9A on chromosome 2q24.3.
GEFS+7
GEFSP7
generalised epilepsy with febrile seizures plus 7
generalised epilepsy with febrile seizures plus type 7
generalized epilepsy with febrile seizures plus type 7
generalized epilepsy with febrile seizures plus 7
A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in HCN1 on chromosome 5p12.
GEFS+10
GEFSP10
generalised epilepsy with febrile seizures plus 10
generalised epilepsy with febrile seizures plus type 10
generalized epilepsy with febrile seizures plus type 10
generalized epilepsy with febrile seizures plus 10
A brain disease characterized by seizures during childhood associated with febrile episodes without any evidence of intracranial infection or defined pathologic or traumatic cause with a familial pattern of inheritance.
FEB
familial febrile convulsions
A familial febrile seizures that has_material_basis_in heterozygous mutation in GABRG2 on chromosome 5q34.
FEB8
familial febrile convulsions 8
A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 6q16.3-q22.31.
GEFS+8
GEFSP8
generalised epilepsy with febrile seizures plus 8
generalised epilepsy with febrile seizures plus type 8
generalized epilepsy with febrile seizures plus type 8
generalized epilepsy with febrile seizures plus 8
A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 8p23-p21.
GEFS+6
GEFSP6
generalised epilepsy with febrile seizures plus 6
generalised epilepsy with febrile seizures plus type 6
generalized epilepsy with febrile seizures plus type 6
generalized epilepsy with febrile seizures plus 6
A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in STX1B on chromosome 16p11.2.
GEFS+9
GEFSP9
generalised epilepsy with febrile seizures plus 9
generalised epilepsy with febrile seizures plus type 9
generalized epilepsy with febrile seizures plus type 9
generalized epilepsy with febrile seizures plus 9
A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1B on chromosome 19q13.11.
GEFS+1
GEFSP1
generalised epilepsy with febrile seizures plus 1
generalised epilepsy with febrile seizures plus type 1
generalized epilepsy with febrile seizures plus type 1
generalized epilepsy with febrile seizures plus 1
A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3p24.2-p23.
FEB9
familial febrile convulsions 9
A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3q26.2-q26.33.
FEB10
familial febrile convulsions 10
A familial febrile seizures that has_material_basis_in heterozygous mutation ADGRV1 on chromosome 5q14.3.
FEB4
familial febrile convulsions 4
A familial febrile seizures that has_material_basis_in variation in a region on chromosome 6q22-q24.
FEB5
familial febrile convulsions 5
A familial febrile seizures that has_material_basis_in variation in a region on chromosome 8q13-q21.
FEB1
familial febrile convulsions 1
A familial febrile seizures that has_material_basis_in homozygous mutation in CPA6 on chromosome 8p13.2.
FEB11
familial febrile convulsions 11
A familial febrile seizures that has_material_basis_in variation in a region on chromosome 18p11.2.
FEB6
familial febrile convulsions 6
A familial febrile seizures that has_material_basis_in variation in a region on chromosome 19p13.3.
FEB2
familial febrile convulsions 2
A familial febrile seizures that has_material_basis_in heterozygous mutation.
FEB7
familial febrile convulsions 7
An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CLCN2 on chromosome 3q27.1.
EIG11
An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC2A1 on chromosome 1p34.2.
EIG12
An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the GABRA1 on chromosome 5q34.
EIG13
An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC12A5 on chromosome 20q13.12.
EIG14
An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the RORB on chromosome 9q21.13.
EIG15
An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 14q23.
EIG2
An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 9q32-q33.
EIG3
An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10q25-q26.
EIG4
An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10p11.22.
EIG5
An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 15q14.
EIG7
An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CASR on chromosome 3q13.3-q21.1.
EIG8
An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CACNB4 on chromosome 2q23.3.
EIG9
A juvenile absence epilepsy that has_material_basis_in heterozygous mutation in EFHC1 on 6p12.2.
EJA1
JAE1
A juvenile myoclonic epilepsy that has_material_basis_in heterozygous mutation in ICK on chromosome 6p12.1.
EJM10
A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 6p21.
EJM3
A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 5q12-q14.
EJM4
A juvenile myoclonic epilepsy that has_material_basis_in heterozygous variation in a region on chromosome 2q33-q36.
EJM9
A vitamin metabolic disorder characterized by vitamin B6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that has_material_basis_in homozygous or compound heterozygous mutation in PNPO on 17q21.32.
PNPO deficiency
PNPO-related neonatal epileptic encephalopathy
pyridoxal 5'-phosphate-dependent epilepsy
pyridoxal phosphate-dependent seizures
pyridoxal phosphate-responsive seizures
pyridoxamine 5'-oxidase deficiency
pyridoxamine 5-prime-phosphate oxidase deficiency
pyridoxamine 5'-phosphate oxidase deficiency
A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or coumpound heterozygous mutation in PSAP on 10q22.1.
PSAPD
combined SAP deficiency
encephalopathy due to prosaposin deficiency
A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozygous mutation in FOXP1 on chromosome 3p13.
FOXP1 syndrome
Mental retardation with language impairment and with or without autistic features
intellectual disability-severe speech delay-mild dysmorphism syndrome
A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that has_material_basis_in compound heterozygous or homozygous mutation in NRXN1 on chromosome 2p16.3.
PTHSL2
A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2.
EMARDD
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1.
LEPD
leptin deficiency or dysfunction
morbid obesity
obesity due to congenital leptin deficiency
A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in MICU1 on chromosome 10q22.1.
MPXPS
proximal myopathy with extrapyramidal signs
A syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in PAX3 on chromosome 2q36.1.
CDHS
Sommer-Young-Wee-Frye syndrome
A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in FGFR2 on chromosome 10q26.13.
JWS
craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has_material_basis_in in some cases in heterozygous mutation in CAV3 on chromosome 3p25.3.
elevated serum CPK
idiopathic hyperCKemia
isolated hyperCKemia
isolated elevated serum creatine phosphokinase levels
A syndrome characterized by severe, honeycomb-patterned palmoplantar keratosis, constrictions on the fingers and toes leading to autoamputation and mild to moderate congenital sensorineural hearing loss that has_material_basis_in heterozygous mutation in GJB2 on chromosome 13q12.11.
KHM
Mutilating keratoderma plus deafness
PPK mutilans and deafness
VOWNKL
congenital deafness with keratopachydermia and constrictions fo fingers and toes
keratoderma hereditarium mutilans
mutilating keratoderma of Vohwinkel
A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in OPA1 on chromosome 3q29.
DOA+
optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
A tooth disease characterized by incomplete tooth eruption despite the presence of a clear eruption pathway that has_material_basis_in heterozygous mutation in PTHR1 on chromosome 3p21.31.
PFE
dental noneruption
familial posterior openbite malocclusion
nonsyndromic primary failure of eruption
primary retention of teeth
unerupted second primary molar
An ectodermal dysplasia characterized by reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy that has_material_basis_in heterozygous mutation in KRT14 on chromosome 17q21.2.
DPR
A syndrome characterized by facial anomalies, hyperextensibility, hypotonia, and meningocele-related neurologic dysfunction that has_material_basis_in heterozygous mutation in NOTCH3 on chromosome 19p13.12.
Lehman syndrome
A myeloproliferative neoplasm characterized by chronic proliferation of myeloid cells and eosinophilia in the peripheral blood and bone marrow that has_material_basis_in a fusion of ETV6 and PDGFRB formed by a translocation from chromosome 12 to chromosome 5q32.
chronic myeloproliferative disorder with eosinophilia
myeloproliferative disorder with eosinophilia
An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has_material_basis_in heterozygous, compound heterozygous or homozygous mutation in COL7A1 on chromosome 3p21.31.
DEB, bullous dermolysis of the newborn
DEB-BDN
transient bullous dermolysis of the newborn
An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in KRT5 on chromosome 12q13.13.
EBSMP
Epidermolysis bullosa simplex-MP
speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering
epidermolysis bullosa simplex with mottled pigmentation
An autosomal dominant dystrophic epidermolysis bullosa characterized by severe blistering of skin and mucous membranes, congenital absence of skin on the lower extremities and congenital absence or deformity of nails that has_material_basis_in heterozygous mutation in COL7A1 on chromosome 3p21.31.
EBD, Bart type
epidermolysis bullosa dystrophica, Bart type
epidermolysis bullosa with congenital localized absence of skin and deformity of nails
A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11.
EDMMD
multiple epiphyseal dysplasia, Beighton type
multiple epiphyseal dysplasia-myopia-deafness syndrome
multiple epiphyseal dysplasia with myopia and deafness
A syndrome characterized by extraintestinal manifestation of familial adenomatous polyposis that has_material_basis_in in some cases by extreme 3' mutation in APC on 5q22.2.
FIF
familial infiltrative fibromatosis
A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of LMBR1 on chromosome 7q36.3.
MIPduplication of fibuland ulna with absence of tibia and radius
Sandrow syndrome
TMIP
miccor hands and feet with nasal defects
mirror hands and feets-nasal defects syndrome
mirror-image polydactyly
tetramelic mirror-image polydactyly
A D-2-hydroxyglutaric aciduria that has_material_basis_in homozygous or compound heterozygous mutation in D2HGDH on 2q37.3.
D2HGA1
A D-2-hydroxyglutaric aciduria that has_material_basis_in heterozygous mutation in IDH2 on 15q26.1.
D2HGA2
An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VPS33B on 15q26.1.
ARCS1
arthrogryposis, renal dysfunction, and cholestasis 1
An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VIPAS39 on 14q24.3.
ARCS2
arthrogryposis, renal dysfunction, and cholestasis 2
A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in HYLS1 on chromosome 11q24.2.
HLS1
A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in KIF7 on chromosome 15q26.1.
HLS2
A skin disease characterized by lack of epidermal ridges on the fingers, toes, palms and soles that has_material_basis_in heterozygous mutation in SMARCAD1 on chromosome 4q22.3.
ADERM
ADG
Absence of fingerprints
Congenital absence of fingerprints
Immigration delay disease
Isolated congenital adermatoglyphia
A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in SRCAP on chromosome 16p11.2.
FLHS
A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in NRAS on chromosome 11p15.5.
Congenital pigmented nevus
GMN
Giant congenital melanocytic nevus
Giant pigmented hairy nevus
LCMN
A syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that has_material_basis_in heterozygous mutation in SOX18 on chromosome 20q13.33.
HLT-renal defect syndrome
HLTRS
glomerulonephritis with sparse hair and telangiectases
hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome
telangiectatic membranoproliferative glomerulonephritis
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
A syndrome characterized by onset at birth or early childhood of progressive hypotrichosis, lymphedema, and telangiectasia that has_material_basis_in homozygous or compound heterozygous mutation in SOX18 on chromosome 20q13.33.
HLTS
hypotrichosis-lymphedema-telangiectasia syndrome
An amino acid metabolic disorder characterized by a defect in tyrosine metabolism with transient metabolic acidosis and tyrosinemia that improves with a phenylalanine and tyrosine restricted diet and presence of the hawksin metabolite in the urine throughout life that has_material_basis_in heterozygous mutation in HPD on chromosome 12q24.31.
4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency
4-HPPD deficiency
4-hydroxyphenylpyruvic acid dioxygenase deficiency
A congenital nonspherocytic hemolytic anemia characterized by nonspherocytic hemolytic anemia of Dacie type I with Heinz bodies seen in erythrocytes after splenectomy that has_material_basis_in heterozygous mutation in HBA1, HBA2 or HBB on chromosome 11p15.4, 16p13.3, and 16p13.3, respectively.
An Alzheimer's disease that has_material_basis_in heterozygous mutation in ABCA7 on chromosome 19p13.3.
AD9
Alzheimer's disease 9, late onset
A urinary system disease characterized by the presence of blood in the urine, thinning of the glomerular basement membrane and normal renal function that has_material_basis_in heterozygous mutation in COL4A3 or COL4A4 on chromosome 2q36.3.
BFH
TMN
thin basement membrane nephropathy
thin membrane nephropathy
A hepatocellular adenoma characterized by highly vascularized liver adenomas that has_material_basis_in homozygous or compound heterozygous mutation in HNF1A on chromosome 12q24.31.
familial liver cell adenomas
An osteoarthritis characterized by bilateral dysmorphism of the proximal femur resulting in severe progressive degenerative osteoarthritis of the hip joint in early adulthood that has_material_basis_in heterozygous mutation in UFSP2 on chromosome 4q35.1.
BFHD
Beukes familial hip dysplasia
Beukes type hip dysplasia
Cilliers-Beighton syndrome
Premature degenerative osteoarthropathy of the hip
A lipid metabolism disorder characterized by elevated levels of alpha-lipoprotein in the blood.
CEPT deficiency
familial hyperalphalipoproteinemia
cholesterol-ester transfer protein deficiency
A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in CETP on chromosome 16q13.
HALP1
A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in APOC3 on chromosome 11q23.3.
HALP2
hyperalphalipoproteinemia 2
A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has_material_basis_in homozygous or compound heterozygous mutation in CA12 on chromosome 15q22.2.
HYCHL
carbonic anhydrase XII deficiency
A skin disease characterized by progressive, diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules that has_material_basis_in heterozygous mutation in KITLG on chromosome 12q21.32.
FPHH
MUH
melanosis universalis hereditaria
familial progressive hyperpigmentation with or without hypopigmentation
A hyperthyroidism characterized by mild to moderate hyperthyroidism, impaired pituitary response to thyroid hormone, elevated levels of thyroid hormone, and association with thyrotoxic features that has_material_basis_in heterozygous mutation in THRB on chromosome 3p24.2.
PRTH
familial hyperthyroidism due to inappropriate thyrotropin secretion
pituitary resistance to thyroid hormone
selective pituitary resistance to thyroid hormone
selective pituitary thyroid hormone resistance
A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction.
FADS
Pena-Shokeir syndrome type 1
arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
fetal akinesia sequence
foetal akinesia deformation sequence syndrome
foetal akinesia sequence
fetal akinesia deformation sequence syndrome
A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in DOK7 on chromosome 4p16.3.
FADS3
fetal akinesia deformation sequence syndrome 3
A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in MUSK on chromosome 9q31.3.
FADS1
fetal akinesia deformation sequence syndrome 1
A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in RAPSN on chromosome 11p11.2.
FADS2
fetal akinesia deformation sequence syndrome 2
A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in NUP88 on chromosome 17p13.2.
FADS4
fetal akinesia deformation sequence syndrome 4
A tooth disease characterized by single deciduous and parmanent maxillary central incisor that may be isolated or occur with a range of other systemic anomalies that has_material_basis_in heterozygous mutation in SHH on chromosome 7q36.3.
SMMCI
fused incisors
single central maxillary incisor
single median maxillary central incisor
single upper central incisor
solitary median maxillary central incisor
A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that has_material_basis_in heterozygous mutation in SALL4 on chromosome 20q13.2.
Instituto Venezolano de Investigaciones Cientificas syndrome
OORS
Oculootoradial syndrome
oculo-oto-radial syndrome
radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has_material_basis_in heterozygous mutation in TBX4 on chromosome 17q23.2.
SPS
Scott-Taor syndrome
congenital coxa vara, patella aplasia and tarsal synostosis
coxo-podo-patellar syndrome
coxopodipatellar syndrome
ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension
ischiopatellar dysplasia
patella aplasia, coxa vara, and tarsal synostosis
small patella syndrome
A keratitis characterized by corneal opacification and vascularization and foveal hypoplasia that has_material_basis_in heterozygous mutation in PAX6 on chromosome 11p13.
hereditary keratitis
An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRPA2B1 on 7p15.2.
IBMPFD2
MSP2
multisystem proteinopathy 2
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2
An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in VCP on chromosome 9p13.3.
IBMPFD1
MSP1
multisystem proteinopathy 1
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1
An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRNPA1 on chromosome 12q13.13.
IBMPFD3
MSP3
multisystem proteinopathy 3
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3
A hypoparathyroidism that has_material_basis_in mutation in PTH on chromosome 6p24.2 or in GCM2 on chromosome 11p15.3.
FIH
A hypoparathyroidism that has_material_basis_in mutation in a region on chromosome Xq27.1 that appears to alter expression of SOX3.
HYPX
agenesis of parathyroid glands
A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in IDUA on chromosome 4p16.3.
MPS1H/S
MPSIH/S
Mucopolysaccharidosis type 1H/S
A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in IDUA on chromosome 4p16.3.
Dysostosis multiplex syndrome
Hurler disease MPS type 1H
Hurler-Pfaundler syndrome
L-iduronidase deficiency, Hurler type
MPS1-H
Mucopolysaccharidosis type I severe form
dysostosis multiplex
gargoylism
A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in GALNS on chromosome 16q24.3.
GALNS deficiency
MPS IVA
MPS4A
Morquio A disease
Morquio syndrome A
A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in GLB1 on chromosome 3p22.3.
MPS IVB
MPS4B
Morquio disease type B
Morquio syndrome B
beta-D-galactosidase deficiency
mucopolysaccharidosis type IVB (Morquio)
A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in HGSNAT on chromosome 8p11.2-p11.1.
Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency
HGSNAT deficiency
Heparan-alpha-glucosaminide N-acetyltransferase deficiency
MPS3C
MPSIIIC
Mucopolysaccharidosis type 3C
Sanfilippo syndrome type C
mucopolysaccharidosis type IIIC (Sanfilippo C)
A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.
MPS3B
MPSIIIB
Mucopoly-saccharidosis type 3B
Mucopolysaccharidosis type 3B
N-acetyl-alpha-glucosaminidase deficiency
NAGLU deficiency
Sanfilippo syndrome type B
mucopolysaccharidosis type IIIB (Sanfilippo B)
A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in SGSH on chromosome 17q25.3.
MPS3A
MPSIIIA
Sanfilippo syndrome type A
heparan sulfamidase deficiency
mucopolysaccharidosis III-A
mucopolysaccharidosis type 3A
mucopolysaccharidosis type IIIA (Sanfilippo A)
A congenital dyserythropoietic anemia characterized by autosomal recessive inheritance of macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis.
CDA I
CDA type 1
CDA type I
Congenital dyserythropoietic anaemia type 1
Congenital dyserythropoietic anemia type 1
congenital dyserythropoietic anaemia type I
congenital dyserythropoietic anemia type I
A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in C15orf41 on chromosome 15q14.
CDA, type Ib
CDAN1B
congenital dyserythropoietic anemia type Ib
A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in CDAN1 on chromosome 15q15.2.
CDA Ia
CDAN1A
congenital dyserythropoietic anemia type Ia
A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts that has_material_basis_in heterozygous mutation in an 11 cM interval within chromosome 15q21-q25.
CDA III
CDA type 3
CDA type III
CDAN3
Congenital dyserythropoietic anaemia type 3
Congenital dyserythropoietic anemia type 3
anaemia with multinucleated erythroblasts
anemia with multinucleated erythroblasts
congenital dyserythropoietic anaemia type III
hereditary benign erythroreticulosis
congenital dyserythropoietic anemia type III
A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in KLF1 on chromosome 19p13.13.
CDA IV
CDA due to KLF1 mutation
CDA type 4
CDA type IV
CDAN4
Congenital dyserythropoietic anaemia due to KLF1 mutation
Congenital dyserythropoietic anaemia type 4
Congenital dyserythropoietic anemia due to KLF1 mutation
Congenital dyserythropoietic anemia type 4
congenital dyserythropoietic anaemia type IV
congenital dyserythropoietic anemia type IV
A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in SEC23B on chromosome 20p11.23.
CDA II
CDA type 2
CDA type II
CDAN2
Congenital dyserythropoietic anaemia type 2
Congenital dyserythropoietic anemia type 2
Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)
SEC23B-CDG
congenital dyserythropoietic anaemia type II
congenital dyserythropoietic anemia type II
A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3.
GNS deficiency
MPS IIID
MPS3D
Mucopolysaccharidosis type 3D
N-acetylglucosamine-6-sulfatase deficiency
Sanfilippo syndrome D
Sanfilippo syndrome type D
A syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities that has_material_basis_in heterozygous mutation in MAST1 on chromosome 19p13.13.
MCCCHCM
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
A syndrome characterized by amelogenesis imperfecta and cone-rod retinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CNNM4 on chromosome 2q11.2.
Cone rod dystrophy-amelogenesis imperfecta syndrome
cone-rod dystrophy and amelogenesis imperfecta
A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in FRAS1 on chromosome 4q21.21.
FRASRS1
A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in GRIP1 on chromosome 12q14.3.
FRASRS3
A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in FREM2 on chromosome13q13.3.
FRASRS2
An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in TSPAN12 on chromosome 7q31.31.
EVR5
An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in a region on chromosome 11p13-p12.
EVR3
An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in ZNF408 on chromosome 11p11.2.
EVR6
An exudative vitreoretinopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in LRP5 on chromosome 11q13.2.
EVR4
An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in FZD4 on chromosome 11q14.2.
EVR1
An exudative vitreoretinopathy that has_material_basis_in mutation in NDP on chromosome Xp11.3.
EVR2
EVRX
FEVRX
A syndrome characterized by intractable diarrhea, facial dysmorphism, immune abnormalities, and hair abnormalities in nearly all patients with liver and/or skin abnormalities seen in more than half of cases that has_material_basis_in defects in components of the SKI complex.
SD/THE
Syndromic diarrhea/Tricho-hepato-enteric syndrome
THES
Tricho-hepato-enteric syndrome
phenotypic diarrhea
syndromic diarrhea
A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in TTC37 on chromosome5q15.
THES1
A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in SKIV2L on chromosome 6p21.33.
THES2
A familial hyperlipidemia characterized by hypertriglyceridemia and fasting chylomicronemia.
A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in APOC2 on chromosome 19q13.32.
C-II anapolipoproteinemia
familial APOC2 deficiency
familial apoC-II deficiency
hyperlipoproteinemia, type 1b
hyperlipoproteinemia, type Ib
A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, very low levels of postheparin plasma lipolytic activity, presence in the circulation of a lipoprotein lipase inhibitor, and elevated adipose levels of lipoprotien lipase.
familial chylomicronemia due to inhibition of lipoprotein lipase activity
A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has_material_basis_in homozygous or compound heterozygous mutation in GPIHBP1 on chromosome 8q24.3.
familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency
hyperlipoproteinemia type 1D
hyperlipoproteinemia type ID
A familial chylomicronemia syndrome characterized by hyperchylomicronemia, elevated levels of very low density lipoprotein, and decreased LDL and HDL levels after fasting that has_material_basis_in heterozygous mutation in APOA5 on chromosome 11q23.3.
familial APOA5 deficiency
familial apolipoprotein A-V deficiency
A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in LMF1 on chromosome 16p13.3.
LPL and HL deficiency
LPL and HTGL deficiency
combined lipase deficiency
familial LMF1 deficiency
lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency
familial lipase maturation factor 1 deficiency
A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in EYA1 on chromosome 8q13.3.
BOR1
A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in SIX5 on chromosome 19q13.32.
BOR2
A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in TNNI3 on chromosome 19q13.42.
RCM1
familial restrictive cardiomyopathy 1
A restrictive cardiomyopathy that has_material_basis_in variation in a region on chromosome 10q23.3.
RCM2
familial restrictive cardiomyopathy 2
A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in TNNT2 on chromosome 1q32.1.
RCM3
familial restrictive cardiomyopathy 3
An essential tremor that has_material_basis_in heterozygous mutation in DRD3 on chromosome 3q13.31.
ETM1
hereditary essential tremor 1
An essential tremor that has_material_basis_in heterozygous mutation in a region on chromosome 2p25-p22.
ETM2
hereditary essential tremor 2
An essential tremor that has_material_basis_in variation in a region on chromosome 6p23.
ETM3
hereditary essential tremor 3
An essential tremor that has_material_basis_in heterozygous mutation in FUS on chromosome 16p11.2.
ETM4
hereditary essential tremor 4
An essential tremor that has_material_basis_in heterozygous mutation in TENM4 on chromosome 11q14.1.
ETM5
hereditary essential tremor 5
An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in OPA3 on chromosome 19q13.32.
ADOAC
OPA3
autosomal dominant optic atrophy 3
autosomal dominant optic atrophy and cataract
autosomal dominant optic atrophy type 3
optic atrophy 3 with cataract
An optic atrophy characterized by early-onset optic neuropathy and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in RTN4IP1 on chromosome 6q21.
OPA10
optic atrophy 10 with or without ataxia, mental retardation, and seizures
An optic atrophy characterized by early onset of slowly progressive isolated optic atrophy that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 8q21-q22.
OPA6
An optic atrophy characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy consistent with mitochondrial dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in YME1L1 on chromosome 10p12.1.
OPA11
An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in TMEM126A on chromosome 11q14.1.
OPA7
optic atrophy 7 with or without auditory neuropathy
An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21.
OPA5
An optic atrophy characterized by progressive visual loss during the first or second decade of life that has_material_basis_in heterozygous mutation in a region on chromosome 16q21-q22.
OPA8
An optic atrophy that has_material_basis_in heterozygous mutation in a region on chromosome 18q12.2-q12.3.
OPA4
An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in OPA1 on chromosome 3q29.
OPA1
An optic atrophy characterized by early childhood onset of decreased visual acuity and pallor of the optic discs, severely reduced visual acuity, paracentral scotoma, red-green dyschromatopsia, and temporal optic atrophy at the fundus that has_material_basis_in homozygous or compound heterozygous mutation in ACO2 on chromosome 22q13.2.
OPA9
An optic atrophy that has_material_basis_in variation in a region on chromosome Xp11.4-p11.21.
OPA2
X-linked optic atrophy 2
A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in SCARB2 on chromosome 4q21.1.
AMRF
EPM4
Myoclonus-nephropathy syndrome
action myoclonus-renal failure syndrome
A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in PRDM8 on chromosome 4q21.21.
EPM10
early-onset Lafora body disease
A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in KCTD7 on chromosome 7q11.21.
CLN14 disease
EPM3
PME type 3
Progressive myoclonic epilepsy due to KCTD7 deficiency
Progressive myoclonus epilepsy type 3
neuronal ceroid lipofuscinosis 14
A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in KCNC1 on chromosome 11p15.1.
EPM7
MEAK
Myoclonus epilepsy and ataxia due to potassium channel mutation
PME type 7
Progressive myoclonic epilepsy due to KV3.1 deficiency
Progressive myoclonus epilepsy type 7
An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in PRICKLE1 on chromosome 12q12.
EPM1B
A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in GOSR2 on chromosome 17q21.32.
EPM6
GOSR2-related progressive myoclonus ataxia
North Sea progressive myoclonus epilepsy
PME type 6
Progressive myoclonus epilepsy type 6
A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in LMNB2 on chromosome 19p13.3.
EMP9
PME type 9
progressive myoclonic epilepsy due to LMNB2 deficiency
progressive myoclonus epilepsy type 9
A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11.
EMP8
PME type 8
progressive myoclonic epilepsy due to CERS1 deficiency
progressive myoclonus epilepsy type 8
An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in CSTB on chromosome 21q22.3.
EPM1A
An amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in DHTKD1 on chromosome 10p14.
AMOXAD
alpha-aminoadipic aciduria
A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has_material_basis_in heterozygous mutation in PIK3R1 on chromosome 5q13.
Aarskog-Ose-Pande syndrome
Lipodystrophy-Rieger anomaly-diabetes syndrome
Rieger anomaly-partial lipodystrophy syndrome
short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has_material_basis_in homozygous or compound heterozygous mutation in BCS1L on chromosome 2q35.
FLNMS
Fellman disease
Finnish lactic acidosis with hepatic hemosiderosis
Finnish lethal neonatal metabolic syndrome
growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome
growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome
growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death
A syndromic intellectual disability characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels that has_material_basis_in homozygous or compund heterozygous mutation in UBE3B on chromosome 12q24.11.
KOS
blepharophimosis ptosis intellectual disability syndrome
oculocerebrofacial syndrome, Kaufman type
An autoimmune disease of the cardiovascular system characterized by onset in infancy of autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation that has_material_basis_in heterozygous gain of function mutation in TMEM173 on chromosome 5q31.
SAVI
STING-associated vasculopathy with onset in infancy
A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in GALE on chromosome 1p36.11.
GALE deficiency
GALE-D
UDP-galactose-4-epimerase deficiency
epimerase deficiency galactosemia
galactosemia III
galactosemia type 3
uridine diphosphate galactose-4-epimerase deficiency
A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in GALT on chromosome 9p13.3.
GALT deficiency
galactose-1-phosphate uridyltransferase deficiency
galactosemia type 1
A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in BRAF on chromosome 7q34.
CFC1
A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in KRAS on chromosome 12p12.1.
CFC2
A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in MAP2K1 on chromosome 15q22.31.
CFC3
A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in MAPK2K2 on chromosome 19p13.3.
CFC4
A combined oxidative phosphorylation deficiency characterized by global developmental delay with intellectual disability, microcephaly, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in TRIT1 on chromosome 1p34.2.
COXPD35
combined oxidative phosphorylation deficiency 35
A combined oxidative phosphorylation deficiency characterized by axial hypotonia, limb hypertonia, psychomotor delay, and hyperlactatemia that has_material_basis_in homozygous or compound heterozygous mutation in TARS2 on chromosome 1q21.2.
COXPD21
combined oxidative phosphorylation deficiency 21
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS14 on chromosome 1q25.1.
COXPD38
combined oxidative phosphorylation deficiency 38
A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in PNPT1 on chromosome 2p16.1.
COXPD13
combined oxidative phosphorylation deficiency 13
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MARS2 on chromosome 2q33.1.
COXPD25
combined oxidative phosphorylation deficiency 25
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compund heterozygous mutation in MRPL44 on chromosome 2q36.1.
COXPD16
infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
combined oxidative phosphorylation deficiency 16
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in SLC25A26 on chromosome 3p14.1.
COXPD28
neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
combined oxidative phosphorylation deficiency 28
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TRMT10C on chromosome 3q12.3.
COXPD30
combined oxidative phosphorylation deficiency 30
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPL3 on chromosome 3q22.1.
COXPD9
combined oxidative phosphorylation deficiency 9
A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonaemia that has_material_basis_in homozygous or compound heterozygous mutation in MRPS22 on chromosome 3q23.
COXPD5
hypotonia with lactic acidemia and hyperammonemia
combined oxidative phosphorylation deficiency 5
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in GFM1 on chromosome 3q25.32.
COXPD1
early fatal progressive hepatoencephalopathy
hepatoencephalopathy due to COXPD1
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
combined oxidative phosphorylation deficiency 1
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in GFM2 on chromosome 5q13.3.
COXPD39
combined oxidative phosphorylation deficiency 39
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in LYRM4 on chromosome 6p25.1.
COXPD19
severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
combined oxidative phosphorylation deficiency 19
A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in FARS2 on chromosome 6p25.1.
COXPD14
combined oxidative phosphorylation deficiency 14
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in VARS2 on chromosome 6p21.33.
COXPD20
combined oxidative phosphorylation deficiency 20
A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in AARS2 on chromosome 6p21.1.
COXPD8
combined oxidative phosphorylation deficiency 8
A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in MTO1 on chromosome 6q13.
COXPD10
infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis
mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
combined oxidative phosphorylation deficiency 10
A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mutation in RMND1 on chromosome 6q25.1.
COXPD11
infantile encephaloneuromyopathy due to mitochondrial translation defect
combined oxidative phosphorylation deficiency 11
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS2 on chromosome 9q34.3.
COXPD36
combined oxidative phosphorylation deficiency 36
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS16 on chromosome 10q22.2.
COXPD2
agenesis of corpus callosum with dysmorphism and fatal lactic acidosis
combined oxidative phosphorylation deficiency 2
A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in SFXN4 on chromosome 10q26.11.
COXPD18
growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
combined oxidative phosphorylation deficiency 18
A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in NARS2 on chromosome 11q14.1.
COXPD24
combined oxidative phosphorylation deficiency 24
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TSFM on chromosome 12q14.1.
COXPD3
Fatal mitochondrial disease due to COXPD3
concentric cardiomyopathy, hypotonia, and lactic acidosis
encephalomyopathy, respiratory failure, and lactic acidosis
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
combined oxidative phosphorylation deficiency 3
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31.
COXPD7
severe C12ORF65-related COXPD
severe C12ORF65-related combined oxidative phosphorylation defect
combined oxidative phosphorylation deficiency 7
A combined oxidative phosphorylation deficiency characterized by global developmental delay, severe hypotonia, and left ventricular non-compaction that has_material_basis_in homozygous or compound heterozygous mutation in MIPEP on chromosome 13q12.12.
COXPD31
lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
combined oxidative phosphorylation deficiency 31
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in CARS2 on chromosome 13q34.
COXPD27
combined oxidative phosphorylation deficiency 27
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TRMT5 on chromosome 14q23.1.
COXPD26
combined oxidative phosphorylation deficiency 26
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation] in MTFMT on chromosome 15q22.31.
COXPD15
combined oxidative phosphorylation deficiency 15
A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in MRPS34 on chromosome 16p13.3.
COXPD32
combined oxidative phosphorylation deficiency 32
A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in EARS2 on chromosome 16p12.2.
COXPD12
LTBL
leukoencephalopathy with thalamus and brainstem involvement and high lactate
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
combined oxidative phosphorylation deficiency 12
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TUFM on chromosome 16p11.2.
COXPD4
combined oxidative phosphorylation deficiency 4
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C1QBP on chromosome 17p13.2.
COXPD33
combined oxidative phosphorylation deficiency 33
A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in ELAC2 on chromosome 17p12.
COXPD17
combined oxidative phosphorylation deficiency 17
A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in MRPS7 on chromosome 17q25.1.
COXPD34
syndromic sensorineural deafness due to COXPD
syndromic sensorineural deafness due to combined oxidative phosphorylation defect
syndromic sensorineural hearing loss due to COXPD
combined oxidative phosphorylation deficiency 34
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in ATP5A1 on chromosome 18q21.1.
COXPD22
combined oxidative phosphorylation deficiency 22
A combined oxidative phosphorylation deficiency characterized by hypotonia, failure to thrive, liver disfunction, and neurodegeneration that has_material_basis_in homozygous or compound heterozygous mutation in MICOS13 on chromosome 19p13.3.
COXPD37
combined oxidative phosphorylation deficiency 37
A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in GTPBP3 on chromosome 19p13.11.
COXPD23
combined oxidative phosphorylation deficiency 23
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TXN2 on chromosome 22q12.3.
COXPD29
combined oxidative phosphorylation deficiency 29
A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in AIFM1 on chromosome Xq26.1.
COXPD6
Mitochondrial encephalomyopathy due to COXPD6
Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6
severe X-linked mitochondrial encephalomyopathy
combined oxidative phosphorylation deficiency 6
A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in TP53 on chromosome 17p13.1.
LFS1
A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in CHEK2 on chromosome 22q12.1.
LFS2
A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has_material_basis_in heterozygous mutation in GJB2 on chromosome 13q12.11.
PPK-deafness syndrome
keratoderma palmoplantar deafness
palmoplantar hyperkeratosis-deafness syndrome
palmoplantar hyperkeratosis-hearing loss syndrome
palmoplantar keratoderma with deafness
palmoplantar keratoderma-hearing loss syndrome
palmoplantar keratoderma-deafness syndrome
A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in RHBDF2 on chromosome 17q25.1.
Bennion-Patterson syndrome
Howell-Evans syndrome
TOC
keratosis palmaris et plantaris with esophageal cancer
keratosis palmoplantaris-esophageal carcinoma syndrome
palmoplantar hyperkeratosis-esophageal carcinoma syndrome
palmoplantar keratoderma with esophageal cancer
tylosis with esophageal cancer
tylosis-oesophageal carcinoma syndrome
palmoplantar keratoderma-esophageal carcinoma syndrome
A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in PTDSS1 on chromosome 8q22.1.
Lenz-Majewski syndrome
An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11.
PLSD-T
PLSDT
lethal short-limbed platyspondylic dwarfism, Torrance type
platyspondylic dysplasia, Torrance-Luton type
platyspondylic lethal skeletal dysplasia, Torrance type
thanatophoric dysplasia, Torrance variant
A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has_material_basis_in heterozygous mutation in FOXC2 on chromosome 16q24.1.
LPHDST
lymphedema with distichiasis
An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in COL11A1 on chromosome 1p21.1. Mutations, typically null, in COL11A1 may also cause Stickler syndrome.
MRSHS
deafness, myopia, cataract, saddle nose-Marshall type
A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in CDKN2A on chromosome 9p21.3.
melanoma-astrocytoma syndrome
melanoma and neural system tumor syndrome
An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in PTPN11 on chromosome 12q24.13.
METCDS
An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has_material_basis_in heterozygous duplication of RUNX2 on chromosome 6p21.1.
metaphyseal dysplasia maxillary hypoplasia brachydactyly
metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11.
metatropic dwarfism
A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in RNASEH1 on chromosome 2p25.3.
PEOB2
adult-onset CPEO with mitochondrial myopathy
adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
autosomal recessive progressive external ophthalmoplegia 2
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2
A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in DGUOK on chromosome 2p13.1.
PEOB4
adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency
autosomal recessive progressive external ophthalmoplegia 4
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4
A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in SLC25A4 on chromosome 4q35.1.
PEOA2
autosomal dominant progressive external ophthalmoplegia 2
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in RRM2B on chromosome 8q22.3.
PEOA5
autosomal dominant progressive external ophthalmoplegia 5
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in DNA2 on chromosome 10q21.3.
DNA2-related mitochondrial DNA deletion syndrome
PEOA6
autosomal dominant progressive external ophthalmoplegia 6
mitochondrial DNA deletion syndrome with limb-girdle weakness
mitochondrial DNA deletion syndrome with progressive myopathy
mtDNA deletion syndrome with limb-girdle weakness
mtDNA deletion syndrome with progressive myopathy
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6
A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in TWNK on chromosome 10q24.31.
PEOA3
autosomal dominant progressive external ophthalmoplegia 3
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in POLG on chromosome 15q26.1.
PEOA1
autosomal dominant progressive external ophthalmoplegia 1
A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in POLG on chromosome 15q26.1.
PEOB1
autosomal recessive progressive external ophthalmoplegia 1
A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TK2 on chromosome 16q21.
PEOB3
autosomal recessive progressive external ophthalmoplegia 3
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3
A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TOP3A on chromosome 17p11.2.
PEOB5
autosomal recessive progressive external ophthalmoplegia 5
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5
A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in POLG2 on chromosome 17q23.3.
PEOA4
autosomal dominant progressive external ophthalmoplegia 4
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in WNT4 on chromosome 1p36.12.
Mullerian duct failure and hyperandrogenism
WNT4 deficiency
A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in ASAH1 on chromosome 8p22.
Jankovic-Rivera syndrome
SMA-PME
SMAPME
hereditary myoclonus-progressive distal muscular atrophy syndrome
spinal muscular atrophy with progressive myoclonic epilepsy
A ectodermal dysplasia characterized by reticulate hyperpigmentation that made fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that has_material_basis_in heterozygous mutation in KRT14 on chromosome 17q21.2.
NFJ syndrome
Naegeli syndrome
Naegeli-Franceschetti-Jadassohn syndrome
A capillary disease characterized by dark red to purple, nonelevated, sharply circumscribed patches which blanch on pressure with a glass, do not spontaneously regress, and have normal rates endothelial cell turnover.
CMC
congenital capillary malformations
familial multiple port-wine stains
A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in NRAS, HRAS, or KRAS on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively.
JNP
Jadassohn nevus phakomatosis
SFM syndrome
Schimmelpenning Feuerstein Mims syndrome
Schimmelpenning syndrome
Solomon syndrome
nevus sebaceus of Jadassohn
nevus sebaceus syndrome
organoid nevus phakomatosis
organoid nevus syndrome
An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in PAX6 on chromosome 11p13.
ONH
familial bilateral optic nerve hypoplasia
isolated optic nerve hypoplasia/aplasia
An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in FGFR1 on chromosome 8p11.23.
Fairbank-Keats syndrome
OGD
osteoglophonic dwarfism
An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in ANO5 on chromosome11p14.3.
GDD
Levin syndrome 2
gnathodiaphyseal sclerosis
osteogenesis imperfecta with unusual skeletal lesions
osteogenesis imperfecta, Levin type
A syndrome characterized by progressive loss of bone, typically involving the capsal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in MAFB on chromosome 20q12.
MCTO
autosomal dominant multicentric osteolysis
hereditary osteolysis of carpal bones with or without nephropathy
idiopathic multicentric osteolysis with or without nephropathy
multicentric carpo-tarsal osteolysis with or without nephropathy
multicentric osteolysis nephropathy
multicentric carpotarsal osteolysis syndrome
A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of GNAS on chromosome 20q13.32.
POH
ectopic ossification familial type
familial ectopic ossification
osteoma cutis
A syndrome characterized by multiple subcutaneous nevi or nodules and osteopoikilosis that has_material_basis_in heterozygous mutation in LEMD3 on chromosome 12q14.3.
BOS
dermatofibrosis lenticularis disseminata with osteopoikilosis
dermatoosteopoikilosis
disseminated dermatofibrosis with osteopoikilosis
osteopathia condensans disseminata
An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in SCN9A on chromosome 2q24.3.
PEPD
PEXPD
familial rectal pain
submandibular, ocular and rectal pain with flushing
A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in SCN4A on chromosome 17q23.3.
Eulenburg disease
PMC
Von Eulenburg paramyotonia congenita
myotonia congenita intermittens
paralysis periodica paramyotonica
paramyotonia congenita
An osteochondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and bowing and twisting of lower limbs that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11.
parastremmatic dysplasia
An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in PEPD on chromosome 19q13.11.
hyperimidodipeptiduria
imidodipeptidase deficiency
peptidase deficiency
An eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that has_material_basis_in heterozygous mutation in CRB1 on chromosome 1q31.3.
PPRCA
pigmented paravenous chorioretinal atrophy
A bone remodeling disease characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton, bone pain, pathological fractures, childhood onset of conductive hearing loss, and premature tooth loss that has_material_basis_in heterozygous mutation in TNFRSF11A on chromosome 18q21.33.
FEO
McCabe disease
hereditary expansile polyostotic osteolytic dysplasia
A syndrome characterized by hamartomatous polyps in the gastrointestinal tract, telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations of the lungs, liver, brain, and gastrointestinal tract that has_material_basis_in heterozygous mutation in SMAD4 on chromosome 18q21.2.
JP-HHT
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome
A syndrome characterized by preaxial deficiencies of the hands and feet, postaxial polydactyly of the hands, and hypospadias that has_material_basis_in heterozygous mutation in HOXA13 on chromosome 7p15.2.
autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias
preaxial deficiency-postaxial polydactyly-hypospadias syndrome
An endocrine system disease characterized by onset in early childhood of accelerated growth, early development of secondary sexual characteristics, and reduced adult height in males only that has_material_basis_in heterozygous mutation in LHCGR on chromosome 2p16.3.
FMPP
familial gonadotropin-independent male-limited sexual precocity
male-limited precocious puberty
testotoxicosis
familial male-limited precocious puberty
A syndrome characterized by anorectal malformations, a presacral mass, and partial sacral agenesis with intact first sacral vertebra that has_material_basis_in heterozygous mutation in HLXB9 on chromosome 7q36.3.
Currarino triad
An artery disease characterized by pronounced tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system that has_material_basis_in heterozygous mutation in COL4A1 on chromosome 13q34.
RATOR
retinal arteriolar tortuosity
retinal hemorrhage with vascular tortuosity
tortuosity of retinal arteries
A corneal disease characterized by annular limbal dermoids with corneal and conjunctival extension that has_material_basis_in heterozygous mutation in PITX2 on chromosome 4q25.
RDC
ring dermoid syndrome
A syndrome characterized by irritable eyes, epiphora, xerostomia, variable aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands, and absence of the lacrimal puncta that has_material_basis_in heterozygous mutation in FGF10 on chromosome 5p12.
ALSG
congenital absence of lacrimal puncta and salivary glands
An ectodermal dysplasia characterized by cutis aplasia of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears that has_material_basis_in heterozygous mutation in KCTD1 on chromosome 18q11.2.
Finlay-Marks syndrome
SENS
Sen Syndrome
hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples
A myopathy characterized by adult onset of foot dorsiflexor weakness, peroneal muscle weakness, scapuloperoneal weakness, and shoulder girdle muscle atrophy that has_material_basis_in heterozygous mutation in DES on chromosome 2q35.
Kaeser syndrome
Stark-Kaeser syndrome
scapuloperoneal syndrome type Kaeser
scapuloperoneal syndrome, neurogenic, Kaeser type
neurogenic scapuloperoneal syndrome Kaeser type
A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11.
SPSMA
neurogenic scapuloperoneal amyotrophy, New England type
scapuloperoneal neuronopathy
An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11.
Brachyolmia Type 2
Pseudo-Morquio syndrome type 2
SED, Maroteaux type
spondyloepiphyseal dysplasia of Maroteaux
spondyloepiphyseal dysplasia Maroteaux type
A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11.
Jequier Kozlowski skeletal dysplasia
Jequier-Kozlowski syndrome
SMD Kozlowski type
dysmorphism arthrogryposis skeletal maturation advanced
skeletal dysplasia Jequier-Kozlowski type
spondylometaphyseal dysplasia Kozlowski type
A syndrome characterized by arthrogryposis, cerebral parenchymal underdevelopment, clubfoot, and global developmental delay with severe cases being incompatible with life that has_material_basis_in homozygous or compound heterozygous mutation in KIAA1109 on chromosome 4q27.
ALKKUCS
A sebaceous gland disease characterized by the presence of multiple benign sebaceous cysts that has_material_basis_in heterozygous mutation in KRT17 on chromosome 17q21.2.
multiple sebaceous cysts
sebocystomatosis
A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in MFN2 on chromosome 1p36.22.
AR-CMT2, Ouvrier type
CMT2A2B
Charcot-Marie-Tooth disease, axonal, type 2A2B
SEOAN due to MFN2 deficiency
autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type
severe early-onset axonal neuropathy due to MFN2 deficiency
A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in ATP1A1 on chromosome 1p13.1.
ATP1A1-related CMT2
ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2
CMT2DD
Charcot-Marie-Tooth disease, axonal, type 2DD
Charcot-Marie-Tooth neuropathy, type 2DD
A Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in MPV17 on chromosome 2p23.3.
CMT2EE
Charcot-Marie-Tooth disease, axonal, type 2EE
A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy with onset in the first or second decade of life that has_material_basis_in heterozygous mutation in PMP2 on chromosome 8q21.13.
CMT1G
PMP2-related CMT1
PMP2-related Charcot-Marie-Tooth disease type 1
PMP2-related Charcot-Marie-Tooth neuropathy type 1
PMP2-related hereditary motor and sensory neuropathy type 1
A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has_material_basis_in heterozygous mutation in FBN1 on chromosome 15q21.1.
SSKS
A macrocytic anemia characterized by macrocytic hemolytic anemia and monovalent cation leak from red blood cells that has_material_basis_in heterozygous mutation in RHAG on chromosome 6p12.3.
OHS
potassium sodium disorder of erythrocyte
stomatocytosisIOHST
A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in GNAQ on chromosome 9q21.2.
SWS
Sturge-Weber-Dimitri syndrome
Sturge-Weber-Krabbe angiomatosis
Sturge-Weber-Krabbe syndrome
encephalofacial angiomatosis
encephalotrigeminal angiomatosis
fourth phacomatosis
leptomeningeal angiomatosis
meningeal capillary angiomatosis
A syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that has_material_basis_in heterozygous mutation in the SHH regulatory region (ZRS) located in intron 5 of LMBR1 on chromosome 7q36.3.
Werner mesomelic syndrome
absence of tibia with polydactyly
absent tibia-polydactyly syndrome
hypoplastic tibiae-postaxial polydactyly syndrome
tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
hypoplastic or aplastic tibia with polydactyly
A syndrome characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology that has_material_basis_in heterozygous mutation in DLX3 on chromosome 17q21.33.
TDO syndrome
tricho-dento-osseous syndrome
An eyelid disease characterized by prolonged anagen phase of the eyelash hairs resulting in extremely long eyelashes that has_material_basis_in homozygous or compund heterozygous mutation in FGF5 on chromosome 4q21.21.
TCMGLY
long eyelashes
A vascular disease characterized by adult onset of microvascular endotheliopathy resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline that has_material_basis_in heterozygous mutation in TREX1 on chromosome 3p21.31.
CRV
RVCL
RVCL-S
hereditary cerebroretinal vasculopathy
retinal vasculopathy and cerebral leukoencephalopathy
retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena
retinal vasculopathy with cerebral leukodystrophy
A connective tissue disease characterized by dislocation of the talonavicular joint with vertical orientation of the talus and rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot that has_material_basis_in heterozygous mutation in HOXD10 on chromosome 2q31.1.
CVT
congenital convex foot
congenital convex pes valgus
congenital rocker-bottom foot
rocker-bottom foot deformity
A hereditary retinal dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation typically lying between the vortex veins and the ora serrata for 360 degrees and other ocular developmental anomalies that has_material_basis_in heterozygous mutation in BEST1 on chromosome 11q12.3.
ADVIRC
VRCP autosomal dominant
vitreoretinochoroidopathy dominant
vitreoretinochoroidopathy with microcornea, glaucoma, and cataract
vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos
autosomal dominant vitreoretinochoroidopathy
An eye degenerative disease characterized by fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment that has_material_basis_in heterozygous mutation in KCNJ13 on chromosome 2q37.1.
SVD
vitreoretinal degeneration, snowflake type
An acrofacial dysostosis characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature that has_material_basis_in heterozygous mutation in the genes EVC2 or EVC on chromosome 4p16.2.
Curry-Hall syndrome
WAD
Weyers acrodental dysostosis
acrofacial dysostosis, Weyers type
A hair disease characterized by fine and tightly curled hair that grows slowly and stops growing after a few inches with hair shafts that display trichorrhexis nodosa and tapered ends.
familial wooly hair syndrome
hereditary woolly hair syndrome
hereditary wooly hair syndrome
woolly hair
wooly hair
A familial woolly hair syndrome that has_material_basis_in heterozygous mutation in KRT74 on chromosome 12q13.13.
ADWH
A familial woolly hair syndrome that has_material_basis_in homozygous or compound heterozygous mutation in KRT24 on chromosome 17q21.2.
ARWH3
A hemolytic anemia characterized by altered intracellular cation content and cellular dehydration of erythocytes resulting in increased mean corpuscular hemoglobin concentrations and altered cell shapes.
hereditary desiccytosis
hereditary xerocytosis
A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in PIEZO1 on chromosome 16q24.3.
PSHK1
dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
pseudohyperkalemia edinburgh
pseudohyperkalemia familial 1, due to red cell leak
A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in KCNN4 on chromosome 19q13.31.
desiccytosis Gardos
xerocytosis Gardos
A syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive impairment, and ataxia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in ITPR1 on chromosome 3p26.1.
GLSP
aniridia, cerebellar ataxia and mental deficiency
aniridia-cerebellar ataxia-intellectual disability syndrome
A respiratory system disease characterized by asthma, aspirin-induced bronchoconstriction, and nasal polyps.
ASA triad
asthma, nasal polyps, and aspirin intolerance
A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in OPA1 on chromosome 3q29.
Abortive cerebellar ataxia (BEHRS)
BEHRS
optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss
optic atrophy, infantile hereditary, Behr complicated form of
A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has_material_basis_in heterozygous mutation in CD96 on chromosome 3q13.1-q13.2.
OTCS
Opitz C trigonocephaly
Opitz trigonocephaly C syndrome
Opitz trigonocephaly syndrome
trigonocephaly C syndrome
A syndrome characterized by adult onset of calcification of arteries in the lower extremities and of the hand and foot capsule joints that has_material_basis_in homozygous or compound heterozygous mutation in NT5E on chromosome 6q14.3.
CALJA
arterial calcification and distal joint calcification
arterial calcification due to CD73 deficiency
arterial calcification due to deficiency of CD73
calcification of joints and arteries
hereditary arterial and articular multiple calcification syndrome
A plasma protein metabolism disease characterized by low levels of carboxypeptidase N in the serum that may result in episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity that has_material_basis_in homozygous or compound heterozygous mutation in CPN1 on chromosome 10q24.2.
anaphylotoxin inactivator deficiency
deficiency of carboxypeptidase B
A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in LMNA on chromosome 1q22.
Malouf syndrome
Najjar syndrome
cardiogenital syndrome
cardiomyopathy eith primary testicular failure
congestive cardiomyopathy with hypergonadotropic hypogonadism
dilated cardiomyopathy with hypergonadotropic hypogonadism
dilated cardiomyopathy with premature ovarian failure
genital anomaly with cardiomyopathy
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in SLC25A20 on chromosome 3p21.31.
CACT deficiency
CACTD
carnitine-acylcarnitine translocase deficiency
A syndrome characterized by intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in RAB3GAP2 on chromosome 1q41.
cataract-intellectual disability-hypogonadism syndrome
An inherited metabolic disorder characterized by progressive cognitive decline, dementia, hypogonadotropic hypogonadism, and variable movement disorders resulting from disordered ubiquitination that has_material_basis_in homozygous or compound heterozygous mutation in RNF216 on chromosome 7p22.1.
CAHH
GDHS
LHRH deficiency and ataxia
cerebellar ataxia-hypogonadism syndrome
luteinizing hormone-releasing hormone deficiency with ataxia
An inherited metabolic disorder characterized by a defect in cholesterol biosynthesis resulting in fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers that has_material_basis_in homozygous or compound heterozygous mutation in LBR on chromosome 1q42.12.
GRBGD
Greenberg skeletal dysplasia
HEM dysplasia
Skeletal dysplasia, Greenberg type
autosomal recessive lethal chondrodystrophy with congenital hydrops
hydrops, ectopic calcification, moth-eaten skeletal dysplasia
hydrops-ectopic calcification-motheaten syndrome
A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in one of 3 genes (TMEM67, CC2D2A, RPGRIP1L).
Gentile syndrome
JS-H
Joubert syndrome with congenital hepatic fibrosis
Joubert syndrome with hepatic defect
cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis
A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in VPS13B on chromosome 8q22.2.
COH1
Hypotonia, obesity, and prominent incisors
Pepper syndrome
A syndrome characterized by congenital heart defects, hamartomas of tongue, and polysyndactyly that has_material_basis_in homozygous or compound heterozygous mutation in WDPCP on chromosome 2p15.
CHDTHP
Ostravik-Lindemann-Solberg syndrome
heart defect-tongue hamartoma-polysyndactyly syndrome
congenital heart defects, hamartomas of tongue, and polysyndactyly
A syndrome characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and chronic mucosal pseudomembranous lesions typically manifesting as ligneous conjunctivitis that has_material_basis_in homozygous or compound heterozygous mutation in PLG on chromosome 6q26.
hypoplasminogenemia
A distal arthrogryposis that has_material_basis_in heterozygous mutation in the chromosome region 2q31.3-q32.1.
DA10
plantar flexion contracture
short Achilles tendon
short tendo calcaneus
A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in ECEL1 on chromosome 2q37.1.
DA5D
distal arthrogryposis type 5 without ophthalmoparesis
distal arthrogryposis type 5 without ophthalmoplegia
A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in FBN2 on chromosome 5q23.3.
Beals syndrome
Beals-Hecht syndrome
CCA
arachnodactyly, contractural Beals type
contractures, multiple with arachnodactyly
distal arthrogryposis type 9
ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
A distal arthrogryposis characterized by autosomal domiant inheritance of contractures of the distal regions of the hands and feet with no facial involvement or other anomalies.
DA1
digitotalar dysmorphism
A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in TPM2 on chromosome 9p13.3.
DA1A
A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in MYBPC1 on chromosome 12q23.2.
DA1B
A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.
DA2B
Freeman-Sheldon syndrome variant
Sheldon-Hall syndrome
A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in TNNI2 on chromosome 11p15.5.
DA2B1
A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in TNNT3 on chromosome 11p15.5.
DA2B2
A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in MYH3 on chromosome 17p13.1.
DA2B3
distal arthrogryposis type 2B3 (Sheldon-Hall)
A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has_material_basis_in heterozygous mutation in MYH8 on chromosome 17p13.1.
DA7
Dutch-Kentucky syndrome
Hecht syndrome
Hecht-Beals syndrome
mouth, inability to completely open, and short finger-flexor tendons
trismus-pseudocamptodactyly syndrome
A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures.
craniocarpotarsal dysplasia
craniocarpotarsal dystrophy
whistling face syndrome
whistling face-windmill vane hand syndrome
A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in MYH3 on chromosome 17p13.1.
DA2A
distal arthrogryposis type 2A (Freeman-Sheldon)
A Freeman-Sheldon syndrome that has autosomal recessive inheritance.
autosomal recessive Whistling face syndrome
A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in PIEZO2 on chromosome 18p11.22-p11.21.
DA3
Gordon syndrome
camptodactyly-cleft palate-clubfoot syndrome
distal arthrogryposis multiplex congenita type IIA
A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in PIEZO2 on chromosome 18p11.22-p11.21.
DA5
DAIIB
arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
distal arthrogryposis type IIB
distal arthrogryposis with ophthalmoplegia
oculomelic amyoplasia
A distal arthrogryposis characterized by distal arthrogryposis with sensorineural deafness.
DA6
arthrogryposis and sensorineural deafness
arthrogryposis-like hand anomaly-sensorineural deafness syndrome
familial hand abnormality and sensori-neural deafness
A distal arthrogryposis characterized by distal arthrogryposis with severe scoliosis.
DA4
DAIID
arthrogryposis-severe scoliosis syndrome
distal arthrogryposis type IID
An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in VPS13D on chromosome 1p36.22-p36.21.
SCA24
SCAR4
SCASI
autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
spinocerebellar ataxia 24
spinocerebellar ataxia with saccadic intrusions
autosomal recessive spinocerebellar ataxia 4
An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21.
SCABD
SCAR3
autosomal recessive spinocerebellar ataxia type 3
autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome
autosomal recessive spinocerebellar ataxia 3
An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in TDP2 on chromosome 6p22.3.
SCAR23
autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
autosomal recessive spinocerebellar ataxia 23
An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in VWA3B on chromosome 2q11.2.
SCAR22
autosomal recessive spinocerebellar ataxia 22
An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in UBA5 on chromosome 3q22.1.
SCAR24
autosomal recessive spinocerebellar ataxia 24
An autosomal recessive cerebellar ataxia characterized by adult onset of progressive gait difficulties and other cerebellar signs that has_material_basis_in homozygous or compound heterozygous mutation in GDAP2 on chromosome 1p12.
SCAR27
autosomal recessive spinocerebellar ataxia 27
An autosomal recessive cerebellar ataxia characterized by onset in infancy of nonprogressive cerebellar ataxia without intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 20q11-q13.
SCAR6
autosomal recessive spinocerebellar ataxia type 6
infantile-onset autosomal recessive nonprogressive cerebellar ataxia
autosomal recessive spinocerebellar ataxia 6
An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2.
ARCA1
Autosomal recessive cerebellar ataxia type 1
SCAR8
SYNE1-related autosomal recessive cerebellar ataxia
autosomal recessive ataxia, Beauce type
recessive ataxia of Beauce
autosomal recessive spinocerebellar ataxia 8
A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in SLC25A1 on chromosome 22q11.21.
D,L-2-HGA
D,L-2-hydroxyglutaric acidemia
D,L-2-hydroxyglutaric aciduria
combined D,L-2-hydroxyglutaric aciduria
combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia
combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria
combined D-2- and L-2-hydroxyglutaric aciduria
A syndrome characterized by congenital corneal endothelial dystrophy and progressive, postlingual sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in SLC4A11 on chromosome 20p13.
CDPD
CDPD1
Harboyan syndrome
corneal dystrophy and perceptive deafness
corneal dystrophy with progressive deafness
corneal endothelial dystrophy and perceptive deafness
corneal dystrophy-perceptive deafness syndrome
A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in C12ORF57 on chromosome 12p13.31.
Temtamy-Shalash syndrome
craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation
craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome
dysmorphism, corpus callosum agenesis and colobomas
A primary hyperaldosteronism characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal gland and production of an excess of cortisol.
ACTH-independent macronodular adrenocortical hyperplasia
AIMAH
Cushing syndrome due to macronodular adrenal hyperplasia
MMAD
adrenocorticotropic hormone-independent macronodular adrenal hyperplasia
corticotropin-independent macronodular adrenal hyperplasia
massive macronodular adrenocortical disease
primary macronodular adrenal hyperplasia
ACTH-independent macronodular adrenal hyperplasia
An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in somatic mutation in GNAS on chromosome 20q13.32.
AIMAH1
ACTH-independent macronodular adrenal hyperplasia 1
An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in a combination of autosomal dominant and second hit somatic mutation in ARMC5 on chromosome 16p11.2.
AIMAH2
ACTH-independent macronodular adrenal hyperplasia 2
A syndrome characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts that has_material_basis_in homozygous or compound heterozygous mutation in CRB2 on chromosome 9q33.3.
VMCKD
congenital nephrosis-cerebral ventriculomegaly syndrome
cystic kidney disease with ventriculomegaly
ventriculomegaly with cystic kidney disease
ventriculomegaly - cystic kidney disease
An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has_material_basis_in homozygous or compound heterozygous mutation in GLYCTK on chromosome 3p21.2.
D-glycerate kinase deficiency
D-glyceric acidemia
D-glycericacidemia
deficiency of glycerate kinase
non ketotic hyperglycinemia syndrome
A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in TBC1D24 on chromosome 16p13.3.
DOOR syndrome
DOORS
autosomal recessive deafness-onychodystrophy syndrome
deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
deafness-onychoosteodystrophy-intellectual disability syndrome
A syndrome characterized by severe myopia and moderate to profound, bilateral, progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in SLITRK6 on chromosome 13q31.1.
DFNMYP
deafness and myopia
deafness and myopia syndrome
high myopia-sensorineural deafness syndrome
A pyrimidine metabolic disorder characterized by a defect in the degredation of uracil and thymine resulting in elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine that has_material_basis_in homozygous or compound heterozygous mutation in DPYS on chromosome 8q22.3.
DPH deficiency
DPYS deficiency
DPYSD
dihydropyrimidinuria
A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in BPGM on chromosome 7q33.
BPGM deficiency
DPGM deficiency
ECYT8
bisphosphoglycerate mutase deficiency
bisphosphoglyceromutase deficiency
diphosphoglycerate mutase deficiency of erythrocyte
hemolytic anemia due to diphosphoglycerate mutase deficiency
A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in either HBA2 or HBA1 on chromosome 16p13.3.
ECYT7
alpha-globin type erythrocytosis
alpha-globin type polycythemia
A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in HBB on chromosome 11p15.4.
ECYT6
beta-globin type erythrocytosis
beta-globin type polycythemia
A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1.
CSID
SI deficiency
congenital sucrase-isomaltose malabsorption
congenital sucrose intolerance
disaccharide intolerance
congenital sucrase-isomaltase deficiency
An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in TMEM132E on chromosome 17q12.
DFNB99
autosomal recessive deafness 99
autosomal recessive nonsyndromic deafness 99
An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in PDZD7 on chromosome 10q24.31.
DFNB57
autosomal recessive deafness 57
autosomal recessive nonsyndromic deafness 57
An autosomal recessive nonsyndromic deafness characterized by postlingual progressive hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in CEACAM16 on chromosome 19q13.
DFNB113
autosomal recessive deafness 113
autosomal recessive nonsyndromic deafness 113
An autosomal recessive nonsyndromic deafness characterized by postlingual progressive sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in BDP1 on chromosome 5q13.2.
DFNB112
autosomal recessive deafness 112
autosomal recessive nonsyndromic deafness 112
An autosomal recessive nonsyndromic deafness characterized by prelingual onset of profound sensorineural deafness without vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in PPIP5K2 on chromosome 5q21.1.
DFNB100
autosomal recessive deafness 100
autosomal recessive nonsyndromic deafness 100
An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in ESRP1 on chromosome 8q22.1.
DFNB109
autosomal recessive deafness 109
autosomal recessive nonsyndromic deafness 109
An autosomal recessive nonsyndromic deafness characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in MPZL2 on chromosome 11q23.33.
DFNB111
autosomal recessive deafness 111
autosomal recessive nonsyndromic deafness 111
An autosomal recessive nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in NARS2 on chromosome 11q14.1.
DFNB94
autosomal recessive deafness 94
autosomal recessive nonsyndromic deafness 94
An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in GRAP on chromosome 17p11.2.
DFNB114
autosomal recessive deafness 114
autosomal recessive nonsyndromic deafness 114
An autosomal recessive nonsyndromic deafness characterized by onset in early childhood of severe sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in SPNS2 on chromosome 17p13.2.
DFNB115
autosomal recessive deafness 115
autosomal recessive nonsyndromic deafness 115
An autosomal recessive nonsyndromic deafness characterized by prelingual, bilateral hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in COCH on chromosome 14q12.
DFNB110
autosomal recessive deafness 110
autosomal recessive nonsyndromic deafness 110
An infancy electroclinical syndrome characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood that has_material_basis_in homozygous or compound heterozygous mutation in TBC1D24 on chromosome 16p13.3.
EPRPDC
RE-PED-WC
Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp
Rolandic-type focal motor epilepsy and exercise-induced dystonia
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
A carbohydrate metabolic disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas that has_material_basis_in homozygous or compound heterozygous mutation in LCT on chromosome 2q21.3.
CLD
congenital alactasia
congenital alactasia syndrome
congenital lactose intolerance
congenital lactose malabsorption
disaccharide intolerance II
An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in WNT10A on chromosome 2q35.
SSPS
eccrine tumors-ectodermal dysplasia
keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome
palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome
palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome
An eye disease characterized by displacement of the lenses and the pupils in association with other ocular anomalies that has_material_basis_in homozygous or compound heterozygous mutation mutation in ADAMTSL4 on chromosome 1q21.2.
ectopia lentis et pupillae
An ectodermal dysplasia characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CDH3 on chromosome 16q22.1.
EEM syndrome
EEMS
ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
An ectodermal dysplasia characterized by severe oligodontia accompanied by anomalies of hair and skin that has_material_basis_in homozygous or compound heterozygous mutation in KREMEN1 on chromosome 22q12.1.
ECTD13
ectodermal dysplasia 13, hair/tooth type
An ectodermal dysplasia characterized by onset in early childhood of hypotrichosis and absence of sweating except with extreme exercise that has_material_basis_in homozygous or compound heterozygous mutation in CST6 on chromosome 11q13.1.
ECTD15
ectodermal dysplasia 15, hypohidrotic/hair type
A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in KDF1 on chromosome 1p36.11.
ECTD12
ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in EDARADD on chromosome 1q42-q43.
ECTD11A
ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in EDARADD on chromosome 1q42-q43.
ECTD11B
ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
An ectodermal dysplasia characterized by onychodystrophy and severe hypotrichosis without nonectodermal or other ectodermal manifestations.
A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in HOXC13 on chromosome 12q13.13.
ECTD9
ectodermal dysplasia 9, hair/nail type
A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 10q24.32-q25.1.
ECTD5
ectodermal dysplasia 5, hair/nail type
A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in KRT85 on chromosome 12q13.13.
ECTD4
ectodermal dysplasia 4, hair/nail type
A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 17p12-q21.2.
ECTD6
ectodermal dysplasia 6, hair/nail type
A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in KRT74 on chromosome 12q13.13.
ECTD7
ectodermal dysplasia 7, hair/nail type
An ectodermal dysplasia characterized by hypotrichosis, hypodontia, and dystrophic toenails that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 18q22.1-q22.3.
ECTD8
Fried's tooth and nail syndrome
ectodermal dysplasia 8, hair/tooth/nail type
An ectodermal dysplasia characterized by scalp hypotrichosis and hypodontia that has_material_basis_in homozygous or compound heterozygous mutation in TSPEAR on chromosome 21q22.3.
ECTN14
ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in EDAR on chromosome 2q13.
ECTD10A
ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1.
CST syndrome
Christ-Siemens-Touraine syndrome
ED1
HED1
X-linked anhidrotic ectodermal dysplasia
XHED
XLHED
ectodermal dysplasia 1, anhidrotic
ectodermal dysplasia 1, hypohidrotic, X-linked
ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked
hypohidrotic ectodermal dysplasia, X-Linked
A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in EDAR on chromosome 2q13.
ECTD10B
ectodermal dysplasia 10B, hypohidrotic/hair/nail type, autosomal recessive
A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in FLVCR2 on chromosome 14q24.3.
EPV
Fowler syndrome
Fowler vasculopathy
PVHH
cerebral proliferative glomeruloid vasculopathy
encephaloclastic proliferative vasculopathy
hydranencephaly, Fowler type
hydrocephaly/hydranencephaly due to cerebral vasculopathy
proliferative vasculopathy and hydranencephaly/hydrocephaly
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
An intestinal disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption that has_material_basis_in homozygous or compound heterozygous mutation in TMPRSS15 on chromosome 21q21.1.
congenital enterokinase deficiency
congenital enteropathy due to enteropeptidase deficiency
deficiency of enteropeptidase
A syndrome characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in ROGDI on chromosome 16p13.3.
KTZS
Kohlschutter's syndrome
amelocerebrohypohidrotic syndrome
epilepsy and yellow teeth
epilepsy dementia amelogenesis imperfecta
epilepsy-dementia-amelogenesis imperfecta syndrome
A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in ANTXR2 on chromosome 4q21.21.
HFS
inherited systemic hyalinosis
puretic syndrome
systemic hyalinosis
A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumuation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in AGXT on chromosome 2q37.3.
HP1
alanine-glyoxylate aminotransferase deficiency
glycolic aciduria
hepatic AGT deficiency
oxalosis I
peroxisomal alanine-glyoxylate aminotransferase deficiency
serine pyruvate aminotransferase deficiency
A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in GRHPR on chromosome 9p13.2.
D-glycerate dehydrogenase deficiency
HP2
L-glyceric aciduria
glyoxylate reductase/hydroxypyruvate reductase deficiency
A primary hyperoxaluria characterized by recurring calcium oxalate stones that has_material_basis_in homozygous or compound heterozygous mutation in HOGA1 on chromosome 10q24.2.
HP3
PH III
primary hyperoxaluria type III
A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has_material_basis_in heterozygous mutation in COG4 on chromosome 16q22.1.
SWILS
microcephalic osteodysplastic dysplasia, Saul-Wilson type
A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in IQSEC1 on chromosome 3p25.2-p25.1.
IDDSSBA
intellectual developmental disorder with short stature and behavioral abnormalities
A syndrome characterized by impaired growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems that has_material_basis_in heterozygous mutation in WDR37 on chromosome 10p15.3.
NOCGUS
A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in KNG1 on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by KNG1.
Fitzgerald trait
HMWK deficiency
congenital high-molecular-weight kininogen deficiency
high molecular weight kininogen deficiency
A retinal disease characterized by a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but with no apparent visual or electrophysiologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in PLA2G5 on chromosome 1p36.13.
FRFB
A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in SLC46A1 on chromosome 17q11.2.
congenital defect of folate absorption
congenital folate malabsorption
A vitamin metabolic disorder characterized by elevated formiminoglutamate in urine and plasma and variable intellectual, developmental, and hematological phenotypes that has_material_basis_in homozygous or compound heterozygous mutation in FTCD on chromosome 21q22.3.
Arakawa syndrome 1
FIGLUria
FTCD deficiency
formiminoglutamic acidemia
formiminoglutamic aciduria
formiminotransferase cyclodeaminase deficiency
formiminotransferase deficiency syndrome
glutamate formiminotransferase deficiency
A carbohydrate metabolic disorder characterized by elevated fructose levels in the blood and urine following ingestion of fructose and related sugars that has_material_basis_in homozygous or compound heterozygous mutation in KHK on chromosome 2p23.3.
fructokinase deficiency
hepatic fructokinase deficiency
ketohexokinase deficiency
An amino acid metabolic disorder characterized by decreased levels of cellular glutathione and gamma-glutamylcysteine and hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in GCLC on chromosome 6p12.1.
gamma-glutamylcysteine synthetase deficiency
hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency
A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has_material_basis_in heterozygous mutation in BICC1 on chromosome 10q21.1. The same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder.
CYSRD
renal dysplasia diffuse cystic
susceptibility to cystic renal dysplasia
A syndrome characterized by neurofibromatosis and manifestations of Noonan syndrome, including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness, that has_material_basis_in heterozygous mutation in NF1 on chromosome 17q11.2.
NFNS
Noonan neurofibromatosis syndrome
neurofibromatosis type 1-Noonan syndrome
neurofibromatosis with Noonan phenotype
An intestinal disease characterized by a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer when untreated.
HMPS
A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous duplication of a region on chromosome 15q15.3-q22.1.
CRAC1
HMPS1
chromosome 15q13-q14 duplication syndrome, 40-KB
colorectal adenoma and carcinoma 1
A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous mutation in BMPR1A on chromosome 10q23.2.
HMPS2
A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2.
11p11.2 deletion
PSS
proximal 11p deletion syndrome
A syndrome characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth that has_material_basis_in heterozygous mutation in MAF on chromosome 16q23.2.
AYGRP
cataracts, congenital, with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation
An adolescence-adult electroclinical syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities.
BAFME
FAME
FCMTE
benign adult familial myoclonic epilepsy
benign adult familial myoclonus epilepsy
familial cortical myoclonic tremor and epilepsy
A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in SAMD12 on chromosome 8q24.11-q24.12.
BAFME1
FAME1
FCMTE1
benign adult familial myoclonic epilepsy 1
familial cortical myoclonic tremor and epilepsy 1
A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in CNTN2 on chromosome 1q32.1.
FAME5
FCMTE5
familial cortical myoclonic tremor and epilepsy 5
A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures that has_material_basis_in a heterozygous 5-bp repeat expansion in STARD7 on chromosome 2q11.2.
ADCME
BAFME2
FAME2
FCMTE2
autosomal dominant cortical myoclonus and epilepsy
benign adult familial myoclonic epilepsy 2
familial cortical myoclonic tremor and epilepsy 2
A familial adult myoclonic epilepsy that has_material_basis_in heterozygous mutation in YEATS2 on chromosome 3q27.1.
FAME4
FCMTE4
familial cortical myoclonic tremor and epilepsy 4
A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in RAPGEF2 on chromosome 4q32.1.
BAFME7
FAME7
FCMTE7
benign adult familial myoclonic epilepsy 7
familial cortical myoclonic tremor and epilepsy 7
A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has_material_basis_in a heterozygous 5-bp repeat expansion in MARCHF6 on chromosome 5p15.2.
FAME3
FCMTE3
familial cortical myoclonic tremor and epilepsy 3
A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in TNRC6A on chromosome 16p12.1.
BAFME6
FAME6
FCMTE6
benign adult familial myoclonic epilepsy 6
familial cortical myoclonic tremor and epilepsy 6
A syndrome characterized by a combination of congenital heart defects, variable cleft lip/palate, short stature, microcephaly, and digital anomalies that has_material_basis_in heterozygous mutation in MEIS2 on chromosome 15q14.
cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
cleft palate, cardiac defects, and mental retardation
cleft palate, cardiac defects, and intellectual disabillity
A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has_material_basis_in homozygous or compound heterozygous mutation in PCSK1 on chromosome 5q15.
obesity and endocrinopathy due to impaired processing of prohormones
obesity due to prohormone convertase I deficiency
obesity with impaired prohormone processing
A syndrome characterized by severe contractual arachnodactyly, distinctive facial features, blepharophimosis, and absence of neurological involvement that has_material_basis_in homozygous or compound heterozygous mutation in SCARF2 on chromosome 22q11.21.
Marden-Walker-like syndrome without psychmotor retardation
blepharophimosis, arachnodactyly, and congenital contractures
A heart disease characterized by a broad spectrum of cardiac arrhythmias including; bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia that has_material_basis_in heterozygous mutation in ANK2 on chromosome 4q25-q26.
A long QT syndrome that has_material_basis_in heterozygous mutation in ANK2 on chromosome 4q25-q26.
An alopecia characterized by anagen phase (actively growing) hair that is easily pulled from the scalp typically presenting in childhood in fair haired individuals and improving with age.
An amino acid metabolic disorder characterized by elevated urine and plasma tryptophan levels that has_material_basis_in homozygous or compound heterozygous mutation in TDO2 on chromosome 4q32.1.
A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2.
Albright hereditary osteodystrophy type 3
Albright hereditary osteodystrophy-like syndrome
Albright's hereditary osteodystrophy-like syndrome
Brachydactyly-intellectual disability syndrome
An ectodermal dysplasia characterized by epibulbar dermoids and aplasia cutis congenita that has_material_basis_in somatic mosaic mutation in KRAS on chromosome 12p12.1.
aplasia cutis congenita-epibulbar dermoids syndrome
An orofacial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, ending at the the lower eyelid lateral to the inferior punctum that has_material_basis_in heterozygous mutation in SPECC1L on chromosome 22q11.23.
A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in AQP5 on chromosome 12q13.12.
diffuse palmoplantar keratoderma, Bothnian type
A nonepidermolytic palmoplantar keratoderma characterized by localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction.
isolated focal non-epidermolytic palmoplantar keratoderma
focal nonepidermolytic palmoplantar keratoderma
A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in KRT16 on chromosome 17q21.2.
focal nonepidermolytic palmoplantar keratoderma 1
A nonepidermolytic palmoplantar keratoderma characterized by focal or diffuse palmoplantar keratodermas with minor or absent nail changes that has_material_basis_in heterozygous mutation in KRT6C on chromosome 12q13.13.
autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
focal or diffuse nonepidermolytic palmoplantar keratoderma
A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in TRPV3 on chromosome 17p13.2.
focal nonepidermolytic palmoplantar keratoderma 2
A syndrome characterized by polyhydramnios, fetal macrosomia, abdominal wall defects, skeletal abnormalities, feeding difficulties and impaired swallowing, dysmorphic features, developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 14q32.
A syndrome characterized by low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height that has_material_basis_in heterozygous mutation in an impriniting region on chromosome 14q32.
A syndrome characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 20q11-q13.
maternal uniparental disomy of chromosome 20
A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2.
MAGEL2-related Prader-Willi-like syndrome
A physical disorder characterized by ocular dysplasia with eyelid malformation.
A cryptophthalmia characterized by absence of the eyelids with skin covering the eye and often an underlying malformed eye.
unilateral or bilateral isolated cryptophthalmos
An isolated cryptophthalmia characterized by an ill-defined upper eyelid that is completely fused, often over an abnormally developed globe and a keratinized cornea.
An isolated cryptophthalmia characterized by failure of formation of the lid folds and globe results in skin extending from the brow to the cheek without identifiable adnexal structures and often the presence of a vestigial ocular structure or cyst within the socket.
An isolated cryptophthalmia characterized by fusion of the upper eyelid skin to the superior aspect of the globe often associated with microphthalmia.
An amelogenesis imperfecta characterized by soft enamel that is initially of normal thickness but lost soon after tooth eruption.
An amelogenesis imperfecta type 3 that is characterized by hypocalcified enamel in both the primary and secondary dentition and that has_material_basis_in homozygous mutation in the RELT gene on chromosome 11q13.
autosomal recessive amelogenesis imperfecta hypocalcification type
A chromosomal deletion syndrome that is characterized by growth retardation, psychomotor retardation, distinctive facial features, skeletal abnormalities, and isoimmune thrombocytopenia that has_material_basis_in deletion of terminal chromosome 11q.
A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis.
A geleophysic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in ADAMTSL2 on chromosome 9q34.2.
A geleophysic dysplasia that has_material_basis_in heterozygous mutation in exon 41 or 42 of FBN1 on chromosome 15q21.1.
A geleophysic dysplasia that has_material_basis_in heterozygous mutation in LTBP3 on chromosome 11q13.1.
A peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, occurring predominantly in either the upper body or lower limbs, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion.
A familial episodic pain syndrome characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress that has_material_basis_in heterozygous mutation in the TRPA1 gene on chromosome 8q13.
A familial episodic pain syndrome characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities that has_material_basis_in heterozygous mutation in the SCN10A gene on chromosome 3p22.
A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22.
A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in PTHR1 on chromosome 3p21.31.
A syndrome characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies that has_material_basis_in heterozygous mutation in GATA6 on chromosome 18q11.2.
congenital heart defects and other congenital anomalies
congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease
pancreatic agenesis and congenital heart defects
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
A drug-induced hearing loss characterized by hearing loss induced by therapeutic doses of aminoglycoside antibiotics that has_material_basis_in mutation in the mitochondrial genes MTRNR1 or MTCO1 in combination with homozygous mutation in TRMU on chromosome 22q13.31.
An X-linked nonsyndromic deafness characterized by progressive hearing loss with postlingual onset and earlier onset in males compared to females that has_material_basis_in mutation in SMPX on chromosome Xp22.12.
nonsyndromic sensorineural progressive deafness 6
An X-linked nonsyndromic deafness characterized by congenital, bilateral, profound and sensorineural hearing loss in males and bilateral, mild to moderate high frequency sensorineural hearing impairment with later onset in heterozygous females that has_material_basis_in mutation in a region on chromosome Xp21.2.
congenital sensorineural X-linked deafness 4
An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1.
X-linked mixed conductive and neurosensory deafness
X-linked mixed conductive and neurosensory hearing loss
X-linked mixed conductive and sensorineural deafness
X-linked mixed conductive and sensorineural hearing loss
conductive deafness 3 with stapes fixation
conductive deafness with stapes fixation
mixed deafness with perilymphatic gusher
An X-linked nonsyndromic deafness characterized by congenital, bilateral, mixed or conductive hearing loss and other ear anomalies that has_material_basis_in homozygous or hemizygous mutation in GPRASP2 on chromosome Xq22.1.
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
An X-linked nonsyndromic deafness characterized by congenital profound sensorineural hearing loss in males and mild to moderate high-frequency hearing loss in heterozygous females that has_material_basis_in mutation in PRPS1 on chromosome Xq22.3.
X-linked sensorineural congenital deafness 2
An X-linked nonsyndromic deafness characterized by severe bilateral sensorineural hearing loss with cochlear malformation in males and mild to moderate hearing loss in females with later onset that has_material_basis_in mutation in COL4A6 on chromosome Xq22.3.
A neuropathy characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment due to diffuse peripheral neuropathy that has_material_basis_in hemizygous or homozygous mutation in AIFM1 on chromosome Xq26.1.
X-linked auditory neuropathy 1 with peripheral sensory neuropathy
X-linked auditory neuropathy with peripheral sensory neuropathy type 1
An autosomal dominant cerebellar ataxia characterized by gait instability, dysarthria, nystagmus, and saccadic pursuits with variable age of onset and severity and slow progression that has_material_basis_in heterozygous mutation of the CACNA1G gene on chromosome 17q21.
An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in PUM1 on chromosome 1p35.2.
An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in TRPC3 on chromosome 4q27.
An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2.
An autosomal dominant cerebellar ataxia characterized by mid-adult onset of gait ataxia and/or cognitive-affective symptoms that has_material_basis_in heterozygous mutation in STUB1 on chromosome 16p13.3.
An autosomal dominant cerebellar ataxia characterized by adult onset of ataxia and imbalance and demyelinating lesions on brain MRI.
A mitochondrial complex V (ATP synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that has_material_basis_in mutation in mitochondrial gene MTATP6.
mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1
A mitochondrial complex V (ATP synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has_material_basis_in homozygous or compound heterozygous mutation in ATP5MD on chromosome 10q24.33.
mitochondrial complex V (ATP synthase) deficiency nuclear type 6
A mitochondrial metabolism disease characterized by adult-onset of ataxia and polyneuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6.
A sensorineural hearing loss that has_material_basis_in mutation in one of several different mitochondrial genes including; MTRNR1, MTTS1, MTCO1, MTTH, MTND1, and MTTI.
mitochondrial nonsyndromic sensorineural deafness
A sensorineural hearing loss characterized by progressive, severe to profound deafness that has_material_basis_in digenic inheritance of mutations in the mitochondrial gene MTRNR1 and an unidentified nuclear gene.
autosomal-mitochondrial sensorineural deafness
A hypertrophic cardiomyopathy characterized by isolated hypertrophic cardiomyopathy and congestive heart failure that has_material_basis_in mutation in the overlapping mitochondrial genes MTATP6 and MTATP8.
A syndrome characterized by Leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities.
A Leber plus disease characterized by Leber hereditary optic neuropathy and dystonia that has_material_basis_in mutation in the mitochondrial genes MTND6, MTND4, MTND1 or MTND3 that make up the mitochondrial complex I.
familial dystonia with visual failure and striatal lucencies
Leber hereditary optic neuropathy and dystonia
A Leber plus disease characterized by Leber hereditary optic neuropathy and demyelination in the central nervous system.
Leber hereditary optic neuropathy with demyelinating disease of CNS
A nonsyndromic deafness characterized by a Y-lnked inheritance mode.
A Y-linked deafness characterized by male-limited bilateral progressive sensorineural hearing loss of variable severity, with onset in the third to fifth decades of life that has_material_basis_in mutation in TBL1Y on chromosome Yp11.2.
A Y-linked deafness characterized by male-limited postlingual progressive sensorineural hearing loss of variable severity, with onset in the first to third decades of life.
A gonadal dysgenesis characterized by presentation of an XX karyotype and male external genitalia ranging from normal to ambiguous.
46,XX testicular disorder of sex development
A 46,XX sex reversal that has_material_basis_in translocation of SRY onto the X chromosome.
A 46,XX sex reversal that has_material_basis_in genomic duplications or deletions in the SOX3 regulatory region on chromosome Xq26.
A 46,XX sex reversal that has_material_basis_in heterozygous duplication or triplication of a 68-kb regulatory region -584 to -516 kb upstream of the SOX9 gene on chromosome 17q24.
A 46,XX sex reversal that has_material_basis_in heterozygous mutation in NR5A1 on chromosome 9q33.3.
A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in FLNA on chromosome Xq28.
FLNA-related X-linked myxomatous valvular dysplasia
Filamin A-related X-linked myxomatous valvular dysplasia
A VACTERL association that has_material_basis_in mutation in ZIC3 on chromosome Xq26.3 or FANCB on chromosome Xp22.2.
VACTERL association, X-linked with or without hydrocephalus
A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of GATA1 on chromosome Xp11.23.
beta-thalassemia-X-linked thrombocytopenia syndrome
thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis
X-linked thrombocytopenia with beta-thalassemia
A complement deficiency characterized by decreased plasma levels of complement factor properdin and increased susceptibility to Neisseria species infections that has_material_basis_in homozygous or hemizygous mutation in PFC on chromosome Xp11.23.
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in MAP3K1 on chromosome 5q11.2.
46,XY gonadal dysgenesis, partial or complete, MAP3K1-related
46,XY sex reversal, partial or complete, MAP3K1-related
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in ZFPM2 on chromosome 8q23.1.
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation but with the absence of other features of the chromosome 9p deletion syndrome that has_material_basis_in heterozygous deletion of a region on chromosome 9p.
46,XY gonadal dysgenesis, partial or complete, with 9p24.3 deletion
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in NR5A1 on chromosome 9q33.3.
46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure
46,XY sex reversal, partial or complete, NR5A1-related
disorder of sex development, 46,XY, NR5A1-related
sex reversal, XY, with or without adrenal failure
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in AKR1C2 on chromosome 10p15.1.
male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in DHH on chromosome 12q13.12.
46,XY gonadal dysgenesis, partial or complete, DHH-related
46,XY sex reversal, partial or complete, DHH-related
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous deletion of a region upstream of SOX9 on chromosome 17q24.
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in CBX2 on chromosome 17q25.3.
46,XY gonadal dysgenesis, complete, CBX2-related
disorder of sex development, 46,XY, CBX2-related
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous duplication of NR0B1 on chromosome Xp21.2.
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous mutation in SRY on chromosome Yp11.2.
46,XY gonadal dysgenesis, complete, SRY-related
A panhypopituitarism that has_material_basis_in duplications in SOX3 on chromosome Xq27.1.
A syndrome characterized by talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava typically resulting in late prenatal or early postnatal mortality that has_material_basis_in hemizygous mutation in RBM10 on chromosome Xp11.3.
Pierre Robin sequence-congenital heart defect-talipes syndrome
Pierre Robin syndrome-congenital heart defect-talipes syndrome
talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome
A syndrome characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease that has_material_basis_in hemizygous or homozygous mutation in RAB39B on chromosome Xq28.
early-onset parkinsonism-intellectual disability syndrome
A bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulation of the long bones, cortical irregularity and campomelia. Most but not all subtypes are associated with mutations in FLNA on chromosome Xq28.
otopalatodigital syndrome spectrum disorder
An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of FLNA on chromosome Xq28.
An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4 ,or 5 in males or exons 28 or 29 in females of FLNA on chromosome Xq28.
An otopalatodigital syndrome spectrum disorder characterized by abnormal ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism, urogenital anomalies, and hearing loss.
A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has_material_basis_in homozygous or hemizygous mutation in FLNA on chromosome Xq28.
A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, urogenital defects and an increased tendency to form keloid scars that has_material_basis_in heterozygous mutation in MAP3K7 on chromosome 6q15.
An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in FLNA on chromosome Xq28.
An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in SH3PXD2B on chromosome 5q35.1.
autosomal recessive Melnick-Needles syndrome
megalocornea, multiple skeletal anomalies, and developmental delay
A congenital nystagmus that has_material_basis_in mutation in FRMD7 on chromosome Xq26.2.
A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 1q31.3-q32.1.
autosomal dominant congenital nystagmus 7
A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 6p12.
autosomal dominant congenital nystagmus 2
A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 7p11.2.
autosomal dominant congenital nystagmus 3
A congenital nystagmus that has_material_basis_in hemizygous of homoxygous mutation in GPR143 on chromosome Xp22.2.
A congenital nystagmus that has_material_basis_in hemizygous or heterozygous mutation in a region of chromosome Xp11.4.
A congenital nystagmus characterized by autosomal recessive inheritance.
autosomal recessive congenital motor nystagmus
autosomal recessive congenital nystagmus
A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in CLCN5 on chromosome Xp11.23.
X-linked nephrolithiasis with renal failure
nephrolithiasis X-linked recessive type 1
A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in NAA10 on chromosome Xq28.
In OMIM, A form of syndromic microphthalmia, formerly designated MCOPS4, has been found to be the same entity as MCOPS1. Type 4 obsoleted by omim, merged into type 1[LS]
A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in RARB on chromosome 3p24.2.
microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects
A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, with various extraocular symptoms that has_material_basis_in heterozygous mutation in SOX2 on chromosome 3q26.33.
anophthalmia clinical with associated anomalies
anophthalmia esophageal genital syndrome
anophthalmia microphthalmia esophageal atresia
anophthalmia/microphthalmia-esophageal atresia syndrome
microphthalmia and esophageal atresia syndrome
A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in MAB21L2 on chromosome 4q31.3.
colobomatous microphthalmia-rhizomelic dysplasia syndrome
microphthalmia and/or coloboma with or without rhizomelic skeletal dysplasia
microphthalmia/coloboma and skeletal dysplasia syndrome
A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that has_material_basis_in mutation in a region of chromosome 6q21.
microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome
A syndromic microphthalmia characterized by microphthalmia, cleft lip and palate, and agenesis of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in VAX1 on chromosome 10q25.3.
A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in BMP4 on chromosome 14q22.2.
anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia
microphthalmia with brain and digit anomalies
A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in OTX2 on chromosome 14q22.3.
syndromic microphthalmia/anophthalmia due to OTX2 mutation
A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in STRA6 on chromosome 15q24.1.
anophthalmia-pulmonary hypoplasia syndrome
anophthalmia/microphthalmia and pulmonary hypoplasia
clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations
pulmonary agenesis microphthalmi and diaphragmatic defect
A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck in females and in utero lethality in males that has_material_basis_in heterozygous or hemizygous mutation in HCCS on chromosome Xp22.2.
Microphthalmia with linear skin defect syndrome
microphthalmia-dermal aplasia-sclerocornea syndrome
linear skin defects with multiple congenital anomalies 1
A syndromic microphthalmia characterized by dental radiculomegaly, congenital cataract, microphthalmia, facial dismorphism and congenital heart disease that has_material_basis_in heterozygous mutation in BCOR on chromosome Xp11.4.
cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome
microphthalmia cataracts radiculomegaly and septal heart defects
A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in HMGB3 on chromosome Xq28.
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation
A syndromic microphthalmia characterized by congenital microphthalmia and blindness, microcephaly, progressive spasticity, seizures, progressive atrophy of the brain and profound intellectual disability.
A syndactyly characterized by isolated fusion of the fourth and fifth metacarpals that has_material_basis_in hemizygous or homozygous mutation in FGF16 on chromosome Xq21.1.
A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in HCFC1 on chromosome Xq28.
combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX
methylmalonic aciduria with homocystinuria, type cblX
methylmalonic acidemia and homocysteinemia cblX type
A Dent disease characterized by elevted levels of low molecular weight proteins in the urine, hypercalciuria, and nephrocalcinosis that has_material_basis_in hemizygous or homozygous mutation in CLCN5 on chromosome Xp11.22.
low molecular weight proteinuria with hypercalciuric nephrocalcinosis
A syndactyly characterized by complete or partial webbing between the third and fourth fingers and/or the second and third toes that has_material_basis_in heterozygous duplication of a region of chromosome 2q34-q36.
syndactyly, type 1, with or without craniosynostosis
A syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers that has_material_basis_in heterozygous mutation in GJA1 on chromosome 6q22.31.
A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has_material_basis_in heterozygous mutation of a SHH regulatory element in intron 5 of LMBR1 on chromosome 7q36.3.
A syndactyly characterized by postaxial syndactyly of the hands and feet associated with metacarpal and metatarsal fusion typically affecting the 4th and 5th or the 3rd and 4th digits that has_material_basis_in heterozygous mutation in HOXD13 on chromosome 2q31.1.
syndactyly with associated metacarpal and metatarsal fusion
A syndactyly characterized by webbing between the second and third toes in the absence of hand involvement.
A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in MBTPS2 on chromosome Xp22.12.
IFAP syndrome 1 with or without BRESHECK syndrome
ichthyosis follicularis-atrichia-photophobia syndrome 1
ichthyosis follicularis-alopecia-photophobia syndrome 1
A syndrome characterized by congenital hemidysplasia, ichythyosiform erythrodema, and limb defects that has_material_basis_in heterozygous mutation in NSDHL on chromosome Xq28.
congenital hemidysplasia with ichthyosiform nevus and limbs defects
A blood coagulation disease characterized by autosomal inheritence of a Factor VIII deficiency.
A syndrome characterized by facial, limbs and genital anomalies, and a disproportionate acromelic short stature.
An Aarskog syndrome characterized by autosomal dominant inheritance.
A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in TBX22 on chromosome Xq21.1.
A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in UBA1 on chromosome Xp11.3.
X-linked distal arthrogryposis multiplex congenita
infantile-onset X-linked spinal muscular atrophy
spinal muscular atrophy with arthrogryposis
A hereditary ataxia characterized by X-linked inheritance.
An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in ATP2B3 on chromosome Xq28.
An X-linked cerebellar ataxia characterized by infantile onset of ataxia, severe atrophy of the cerebellum, diffuse small cysts, pale inferior olives, and gliosis with X-linked inheritance.
cerebellar ataxia with extrapyramidal involvement early-onset
An X-linked cerebellar ataxia characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy with X-linked inheritance.
An X-linked cerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia with X-linked inheritance.
An X-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that has_material_basis_in hemizygous mutation in region of chromosome Xq25-q27.1.
X-linked non progressive cerebellar ataxia
A pigmentation disease characterized by early onset of recurrent respiratory infections, failure to thrive resulting from inflammatory gastroenteritis or colitis, and reticular pigmentation abnormalities of the skin in hemizygous males and only pigmentary abnormalities along the lines of Blaschko in heterozygous females that has_material_basis_in mutation in POLA1 on chromosome Xp22.1-p21.3.
X-linked reticulate pigmentary disorder with systemic manifestations
A congenital hypothyroidism characterized by a small thyroid gland with low free T4 levels and inappropriately normal levels of thyroid-stimulating hormone that has_material_basis_in hemizygous mutation in IRS4 on chromosome Xq22.3.
A congenital hypothyroidism characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that has_material_basis_in homozygous or compound heterozygous mutation in TRHR on chromosome 8q23.1.
central hypothyroidism due to TRH receptor deficiency
resistance to thyrotropin-releasing hormone syndrome
A congenital hypothyroidism characterized by relatively mild central hypothyroidism that has_material_basis_in heterozygous or hemizygous mutation in TBL1X on chromosome Xp22.3-p22.2.
A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech that has_material_basis_in hemizygous or heterozygous mutation in MSL3 on chromosome Xp22.2.
X-linked syndromic mental retardation 36
X-linked syndromic mental retardation Basilicata-Akhtar type
A congenital disorder of glycosylation type I characterized by developmental delay, impaired intellectual development, and mild facial dysmorphism associated with abnormal serum transferrin isoelectic focusing consistent with a type 1 pattern that has_material_basis_in hemizygous mutation in MAGT1 on chromosome Xq21.1.
congenital disorder of glycosylation type Icc
congenital disorder of glycosylation Icc
A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in POLA1 on chromosome Xp22.1-p21.3.
X-linked intellectual disability, Van Esch type
X-linked syndromic mental retardation Van Esch-O'Driscoll type
A syndrome characterized by global developmental delay, variably impaired intellectual development, variable dysmorphic features, and behavioral abnormalities, including autism spectrum disorder and ADHD that has_material_basis_in hemizygous mutation in BCORL1 on chromosome Xq26.1.
A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in GPC4 on chromosome Xq26.2.
A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in HS6ST2 on chromosome Xq26.2.
A syndromic X-linked intellectual disability characterized by global developmental delay, delayed walking, and poor speech acquisition that has_material_basis_in hemizygous mutation in SLC9A7 on chromosome Xp11.3.
X-linked intellectual developmental disorder 108
A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis_in heterozygous or hemizygous mutation in STAG2 on chromosome Xq25.
X-linked neurodevelopmental disorder with craniofacial abnormalities
A congenital hemolytic anemia characterized by mild congenital hemolytic anemia without morphologic red cell abnormalities that has_material_basis_in hemizygous mutation in ATP11C on chromosome Xq27.1.
An osteogenesis imperfecta characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, variable scoliosis and pectal deformity, and marked anterior angulation of the tibia that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12.
An osteogenesis imperfecta characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in TENT5A on chromosome 6q14.1.
An osteogenesis imperfecta characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography that has_material_basis_in homozygous or compound heterozygous mutation in MESD on chromosome 15q25.1.
A primary ciliary dyskinesia characterized by absence of outer dynein arms, defects in inner dynein arms, chronic airway disease and recurrent sinopulmonary infections, male infertility, and laterality defects in about half of patients that has_material_basis_in hemizygous mutation in PIH1D3 on chromosome Xq22.3.
A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or compound heterozygous mutation in NEK10 on chromosome 3p24.1.
primary ciliary dyskinesia 44 without situs inversus
A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in CFAP300 on chromosome 11q22.1.
primary ciliary dyskinesia 38 with or without situs inversus
A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in DNAH9 on chromosome 17p12.
primary ciliary dyskinesia 40 with or without situs inversus
A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in LRRC56 on chromosome 11p15.5.
primary ciliary dyskinesia 39 with or without situs inversus
A primary ciliary dyskinesia characterized by severe reduction or absence of multiple motile cilia in respiratory epithelia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in MCIDAS on chromosome 5q11.2.
primary ciliary dyskinesia 42 without situs inversus
A primary ciliary dyskinesia characterized by reduced generation of multiple motile cilia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections,variable infertility, and laterality defects in about half of patients that has_material_basis_in heterozygous mutation in FOXJ1 on chromosome 17q25.1.
primary ciliary dyskinesia 43 with or without situs inversus
A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in TTC12 on chromosome 11q23.2.
primary ciliary dyskinesia 45 without situs inversus
A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in GAS2L2 on chromosome 17q12.
A syndrome characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis that has_material_basis_in hemizygous mutation in AMMECR1 on chromosome Xq23.
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3.
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
chromosome Xq22.3 telomeric deletion syndrome
A syndrome characterized by early-onset aortic aneurysm and dissection in hemizygous males and variable presentation from unaffected to fatal aortic dissection in heterozygous females, as well as facial dysmorphism, connective tissue anomalies, and features of Loeys-Dietz syndrome that has_material_basis_in mutation in BGN on chromosome Xq28.
A male infertility that is characterized by bilateral absence of the vas deferens resulting in obstroctive azoospermia and male infertility.
congenital bilateral agenesis of vas deferens
congenital bilateral aplasia of vas deferens
congenital bilateral absence of vas deferens
A congenital bilateral absence of vas deferens that has_material_basis_in mutation in ADGRG2 on chromosome Xp22.13.
X-linked congenital bilateral absence of vas deferens
A congenital bilateral absence of vas deferens that has_material_basis_in homozygous or compound heterozygous mutation in CFTR on chromosome 7q31.2.
autosomal recessive congenital bilateral absence of vas deferens
A lipid metabolism disorder characterized by a defect in sterol biosynthesis that results in variable features including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities that has_material_basis_in hemizygous mutation in EBP on chromosome Xp11.23.
male EBP disorder with neurological defects
A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections.
A trichothiodystrophy characterized by absence of extreme sensitivity to UV radiation.
A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in RNF113A on chromosome Xq24.
A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in ERCC3 on chromosome 2q14.3.
A nonphotosensitive trichothiodystrophy characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis that has_material_basis_in homozygous or compound heterozygous mutation in TARS1 on chromosome 5p13.3.
A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in GTF2H5 on chromosome 6q25.3.
trichothiodystrophy complementation group A
A nonphotosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in GTF2E2 on chromosome 8p12.
A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in ERCC2 on chromosome 19q13.32.
A nonphotosensitive trichothiodystrophy characterized by congenital hypotrichosis, mild to moderate onychodysplasia, varying intellectual disability, and sterility.
A syndrome characterized by linear skin defects and various other congenital anomalies. The classical diagnosis consisted of unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects but patients with a molecular diagnosis of MLS syndrome may not display eye abnormalities.
linear skin defects with multiple congenital anomalies
A linear skin defects with multiple congenital anomalies characterized by linear skin defects, cardiomyopathy, and various other congenital anomalies that has_material_basis_in heterozygous mutation in NDUFB11 on chromosome Xp11.3.
linear skin defects with cardiomyopathy and other congenital anomalies
linear skin defects with multiple congenital anomalies 3
A linear skin defects with multiple congenital anomalies characterized by linear skin defects, microcephaly, facial dysmorphism, and other congenital anomalies that has_material_basis_in heterozygous mutation in COX7B on chromosome Xq21.1.
aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies
linear skin defects with multiple congenital anomalies 2
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL11 on chromosome 1p36.11.
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL5 on chromosome 1p22.1.
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS27 on chromosome 1q21.3.
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS7 on chromosome 2p25.3.
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL15 on chromosome 3p24.2.
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL35A on chromosome 3q29.
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS10 on chromosome 6p21.31.
A Diamond-Blackfan anemia that has_material_basis_in mutation in a region of chromosome 8p23.3-p22.
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL35 on chromosome 9q33.3.
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS24 on chromosome 10q22.3.
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS26 on chromosome 12q13.2.
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS29 on chromosome 14q21.3.
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS17 on chromosome 15q25.2.
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS15A on chromosome 16p12.3.
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL26 on chromosome 17p13.1.
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL27 on chromosome 17q21.31.
A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that has_material_basis_in heterozygous mutation in RPS28 on chromosome 19p13.2.
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS19 on chromosome 19q13.2.
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL18 on chromosome 19q13.33.
A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia, bilateral microtia, and cleft palate that has_material_basis_in hemizygous mutation in TSR2 on chromosome Xp11.22.
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
A lipid metabolism disorder characterized by increased methylsterol levels in cells and cerebrospinal fluid, mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus that has_material_basis_in hemizygous mutation in NSDHL on chromosome Xq28.
X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome
A thrombophilia characterized by normal levels of F9 antigen, but very high levels of F9 activity that has_material_basis_in hemizygous gain of function mutation in F9 on chromosome Xq27.1.
X-linked thrombophilia due to factor IX defect
A protein S deficiency characterized by reduced serum protein S levels and recurrent venous thrombosis that has_material_basis_in heterozygous mutation in PROS1 on chromosome 3q11.1.
autosomal dominant thrombophilia due to protein S deficiency
A thrombophilia characterized by increased risk of thromboembolism that has_material_basis_in heterozygous mutation in HCF2 on chromosome 22q11.21.
thrombophilia due to heparin cofactor II deficiency
A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2.
thrombophilia due to deficiency of activated protein C cofactor
thrombophilia due to activated protein C resistance
A thrombophilia characterized by decreased histidine-rich glycoprotein (HRG) plasma levels and a tendency to develop thrombosis that has_material_basis_in heterozygous mutation in HRG on chromosome 3q27.3.
hereditary thrombophilia due to congenital HRG deficiency
hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
A protein C deficiency characterized by typically early onset of venous thrombosis although in some cases it may have a milder, later onset that has_material_basis_in homozygous or compound heterozygous mutation in PROC on chromosome 2q14.3.
autosomal recessive protein C deficiency
autosomal recessive thrombophilia due to protein C deficiency
A protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in PROS1 on chromosome 3q11.1.
autosomal recessive thrombophilia due to congenital protein S deficiency
severe hereditary thrombophilia due to congenital protein S deficiency
autosomal recessive thrombophilia due to protein S deficiency
A thrombophilia characterized by impaired capacity for release of fibrinolytic activity from the blood vessel walls.
thrombophilia due to decreased release of PLAT
A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2.
A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in THBD on chromosome 20p11.21.
thrombomodulin-related bleeding disorder
thrombophilia due to thrombomodulin defect
A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in PROC on chromosome 2q14.3.
autosomal dominant thrombophilia due to protein C deficiency
A male infertility characterized by disruption of the process of sperm development from diploid cells into mature haploid spermatozoa.
A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in FSIP2 on chromosome 2q32.1.
A spermatogenic failure characterized by oligozoospermia and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in CFAP70 on chromosome 10q22.2.
A spermatogenic failure characterized by nonobstructive azoospermia or cryptozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in TDRD9 on chromosome 14q32.33.
A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely impaired sperm motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in QRICH2 on chromosome 17q25.1.
A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in WDR66 on chromosome 12q24.31.
A spermatogenic failure characterized by nonobstructive azoospermia and a Sertoli cell-only phenotype in testes that has_material_basis_in homozygous or compound heterozygous mutation in FANCM on chromosome 14q21.2.
A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in ansence of forward motility in spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in SPEF2 on chromosome 5p13.2.
A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely reduced to absent sperm motility and abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in CFAP65 on chromosome 2q35.
A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in infertility and asthenoteratozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in ARMC2 on chromosome 6q21.
A spermatogenic failure characterized by maturation arrest at the primary spermatocyte stage resulting in severe oligozoospermia or azoospermia, small testes, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in TEX15 on chromosome 8p12.
A spermatogenic failure characterized by spermatozoa showing anomalies of the head, acrosome, and nucleus of the sperm resulting in reduced fertility that has_material_basis_in heterozygous mutation in PPP2R3C on chromosome 14q13.2.
A male failure due to acephalic spermatozoa that is characterized by oligozoospermia with a high proportion of acephalic sperm that has_material_basis_in homozygous or compound heterozygous mutation in PMFBP1 on chromosome 16q22.2.
A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severly impaired sperm progressive motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in TTC29 on chromosome 4q31.22.
A spermatogenic failure due to acephalic spermatozoa that is characterized by acephalic spermatozoa due to breakage at the midpiece of the sperm that has_material_basis_in homozygous or compound heterozygous mutation in TSGA10 on chromosome 2q11.2.
A spermatogenic failure characterized by nonobstructive azoospermia, absence of spermatogenic cells and a Sertoli cell-only phenotype in testes that has_material_basis_in heterozygous mutation in SOHLH1 on chromosome 9q34.3.
A spermatogenic failure characterized by multiple morphologic anomalies of the sperm flagellum, lack of the outer dynein arms in the flagella, and asthenozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in DNAH17 on chromosome 17q25.3.
A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, asthenoteratozoospermia, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in TTC21A on chromosome 3p22.2.
A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in AK7 on chromosome 14q32.2.
A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, malformed sperm heads, and very low sperm counts that has_material_basis_in homozygous or compound heterozygous mutation in CFAP69 on chromosome 7q21.13.
A spermatogenic failure characterized by nonobstructive azoospermia or oligozoospermia, immotile sperm, and sperm acrosome and head-neck junction abnormalities that has_material_basis_in homozygous or compound geterozygous mutation in SPINK2 on chromosome 4q12.
A syndrome characterized by toe syndactyly, telecanthus and anogenital and renal malformations that has_material_basis_in heterozygous mutation in FAM58A on chromosome Xq28.
syndactyly with renal and anogenital malformations
toe syndactyly, telecanthus, and anogenital and renal malformations
syndactyly-telecanthus-anogenital and renal malformations syndrome
A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in MECP2 on chromosome Xq28.
neonatal severe encephalopathy due to MECP2 mutations
severe neonatal-onset encephalopathy with microcephaly
severe congenital encephalopathy due to MECP2 mutation
A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in PGK1 on chromosome Xq21.1.
GSD due to phosphoglycerate kinase 1 deficiency
glycogen storage disease due to phosphoglycerate kinase 1 deficiency
glycogenosis due to phosphoglycerate kinase 1 deficiency
A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has_material_basis_in homozygous or compound heterozygous mutation in ISG15 on chromosome 1p36.33.
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
immunodeficiency 38 with basal ganglia calcification
immunodeficiency 38, mycobacteriosis, autosomal recessive
A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in TNFRSF4 on chromosome 1p36.33.
combined immunodeficiency due to OX40 deficiency
combined immunodeficiency with childhood-onset Kaposi sarcoma
combined immunodeficiency with impaired immunity to HHV-8
combined immunodeficiency with impaired immunity to human herpes virus 8
A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in PIK3CD on chromosome 1p36.22.
senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation
A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in LCK on chromosome 1p35.2.
SCID due to lymphocyte-specific protein tyrosine kinase deficiency
severe combined immunodeficiency due to LCK deficiency
severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency
A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in CTPS1 on chromosome 1p34.2.
severe combined immunodeficiency due to CTPS1 deficiency
A combined T cell and B cell immunodeficiency characterized by hypogammaglobulinemia with profoundly reduced memory B cells and memory T cells and increased numbers of circulating naive lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in BCL10 on chromosome 1p22.3.
A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in RORC on chromosome 1q21.3.
autosomal recessive MSMD due to complete RORgamma receptor defiency
autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
autosomal recessive primary immunodeficiency due to RORC mutation
A primary immunodeficiency disease characterized by a defect in spontaneous NK cell cytotoxicity that has_material_basis_in homozygous or compound heterozygous mutation in FCGR3A on chromosome 1q23.3.
autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity
autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
A T cell deficiency characterized by decreased T cell counts, normal B cell counts, and eosinophilia that has_material_basis_in homozygous or compound heterozygous mutation in CD247 on chromosome 1q24.2.
immunodeficiency due to defect in CD3-zeta
A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in ZAP70 on chromosome 2q11.2.
combined immunodeficiency due to ZAP70 deficiency
A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in STAT1 on chromosome 2q32.2.
autosomal recessive immunodeficiency 31B, mycobacterial and viral infections
predisposition to severe viral infection due to STAT1 deficiency
susceptibility to viral and mycobacterial infections due to STAT1 deficiency
A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in STAT1 on chromosome 2q32.2.
MSMD due to partial signal transducer and activator of transcription 1 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency
autosomal dominant immunodeficiency 31A, mycobacteriosis
A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in STAT1 on chromosome 2q32.2.
autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
autosomal dominant chronic mucocutaneous familial candidiasis
A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in GATA2 on chromosome 3q21.3.
combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections
dendritic cell, monocyte, B and NK lymphoid deficiency
monocyte-B-natural killer-dendritic cell deficiency syndrome
monocytopenia and mycobacterial infection syndrome
monocytopenia with susceptibility to infections
A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has_material_basis_in homozygous or compound heterozygous mutation in TFRC on chromosome 3q29.
combined immunodeficiency due to TFRC deficiency
A combined T cell and B cell immunodeficiency characterized by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency that has_material_basis_in heterozygous mutation in PIK3R1 on chromosome 5q13.1.
activated phosphoinositide 3-kinase delta syndrome 2
A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in IL12B on chromosome 5q33.3.
MSMD due to complete interleukin 12B deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency
A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in DOCK2 on chromosome 5q35.1.
A primary immunodeficiency disease characterized by recurrent infections starting in the first year of life, lymphopenia, altered production of various cytokines, inflammatory polyarthritis, and chronic active inflammation of the digestive tract that has_material_basis_in homozygous or compound heterozygous mutation in RIPK1 on chromosome 6p25.2.
immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
immunodeficiency 57 with autoinflammation
A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in PGM3 on chromosome 6q14.1.
PGM3-related congenital disorder of glycosylation
combined immunodeficiency due to PGM3 deficiency
A combined T cell and B ell immunodeficiency characterized by dysregulation of both B and T cells, inflammatory bowel disease and recurrent sinopulmonary infections that has_material_basis_in heterozygous mutation in BACH2 on chromosome 6q15.
BACH2-related immunodeficiency and autoimmunity
A primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in IFNGR1 on chromosome 6q23.3.
autosomal recessive MSMD due to partial IFNgammaR1 deficiency
autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency
autosomal recessive immunodeficiency 27A, mycobacteriosis
autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro, recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in IFNGR1 on chromosome 6q23.3.
autosomal dominant MSMD due to partial IFNgammaR1 deficiency
autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency
autosomal dominant immunodeficiency 27B, mycobacteriosis
autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
A severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell function that has_material_basis_in homozygous or compound heterozygous mutation in CARD11 on chromosome 7p22.2.
severe combined immunodeficiency due to CARD11 deficiency
A T cell deficiency characterized by defects in T-cell activation, increased IgE, eosinophilia and early childhood onset of moderate to severe atopic dermatitis that has_material_basis_in heterozygous mutation in CARD11 on chromosome 7p22.2.
atopic dermatitis, elevated IgE, and eosinophilia
immunodeficiency 11B with atopic dermatitis
A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal B and T cell numbers that has_material_basis_in homozygous or compound heterozygous mutation in IKBKB on chromosome 8p11.21.
A combined T cell and B cell immunodeficiency characterized by immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects that has_material_basis_in heterozygous missense mutation in IKBKB on chromosome 8p11.21.
A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in PRKDC on chromosome 8q11.21.
immunodeficiency 26, with or without neurologic abnormalities
severe combined immunodeficiency due to DNA-PKcs deficiency
A primary immunodeficiency disease that involves multiple components of the immune system.
A primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells.
A combined immunodeficiency characterized by impaired function or reduced numbers of dendritic cells and B cells.
A combined immunodeficiency characterized by impaired function or reduced numbers of T cells, B cells, and natural killer (NK) cells.
A combined immunodeficiency characterized by impaired function or reduced numbers of monocytes, dendritic cells, and natural killer (NK) cells.
monocyte, dendritic cell, and NK cell deficiency
An NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in MCM4 on chromosome 8q11.21.
familial isolated natural killer cell deficiency
primary immunodeficiency due to MCM4 deficiency
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
A combined immunodeficiency characterized by a defect in T cell regulation with proliferation of CD8+ T cells, impaired antibody specific responses, and elevated cytokines resulting in recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features that has_material_basis_in homozygous or compound heterozygous mutation in IL2RA on chromosome 10p15.1.
immunodeficiency 41 with lymphoproliferation and autoimmunity
interleukin-2 receptor alpha chain deficiency
A primary immunodeficiency disease characterized by impaired interferon I and III production in response to influenza virus infection that has_material_basis_in homozygous or compond heterozygous mutation in IRF7 on chromosome 11p15.5.
A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous or compound heterozygous mutation in STIM1 on chromosome 11p15.4.
combined immunodeficiency due to STIM1 deficiency
immune dysfunction with T-cell inactivation due to calcium entry defect 2
A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in CD3E on chromosome 11q23.3.
A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has_material_basis_in homozygous or compound heterozygous mutation in CD3D on chromosome 11q23.3.
SCID T cell-negative, B cell-positive, NK cell-positive
severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive
A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clincal severity that has_material_basis_in homozygous or compound heterozygous mutation in CD3G on chromosome 11q23.3.
SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive
immunodeficiency 17, CD3 gamma deficient
A B cell and dendritic cell deficiency characterized by granulocytopenia, B-cell and dentritic cell deficiency, recurrent septic infections of the respiratory tract, skin, and mucous membranes, and stress-induced hypoglycemia that has_material_basis_in homozygous or compound heterozygous mutation in HYOU1 on chromosome 11q23.3.
granulocytopenia with immunoglobin abnormality
A primary immunodeficiency disease characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination with apparent defects in mitochondrial fission and fusion that has_material_basis_in homozygous or compound heterozygous mutation in STAT2 on chromosome 12q13.3.
A T cell deficiency characterized by early onset of recurrent infections due to defective T-cell activation, ectodermal dysplasia, and congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in ORAI1 on chromosome 12q24.31.
combined immunodeficiency due to ORAI1 deficiency
immune dysfunction with T-cell inactivation due to calcium entry defect 1
A T cell deficiency characterized by decreased or absent CD3+ T cells with TCR-alpha/beta expression, immune dysregulation, recurrent infections, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in TRAC on chromosome 14q11.2.
TCR-alpha-beta-positive T-cell deficiency
immunodeficiency 7, TCR-alpha/beta deficient
A primary immunodeficiency disease characterized by onset in early infancy of recurrent and severe viral infections, impaired cellular type I interferon response, and poor outcomes after vaccination with live attenuated vaccines that has_material_basis_in homozygous or compound heterozygous mutation in IRF9 on chromosome 14q12.
immunodeficiency 65, susceptibility to viral infections
A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in BCL11B on chromosome 14q32.2.
SCID, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities
severe combined immunodeficiency, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities
A T cell, B cell, and NK cell deficiency characterized by variably decreased numbers of T cells, lesser deficiencies of B and NK cells, decreased phosphorylation of the extracellular-signal-regulated serine kinase ERK in T and B cells, and onset in early childhood of recurrent bacterial, viral, and fungal infections that has_material_basis_in homozygous or compound heterozygous mutation in RASGRP1 on chromosome 15q14.
A primary immunodeficiency disease characterized by recurrent infections, reduced serum concentrations of immunoglobulin G and albumin due to rapid degradation of these proteins, abnormal renal or liver function, and excessive gastrointestinal protein that has_material_basis_in homozygous or compound heterozygous mutation in B2M on chromosome 15q21.1.
A combined T cell and B cell immunodeficiency characterized by B- and T-cell defects including defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens, and variable dysfunction of NK cells that has_material_basis_in homozygous or compound heterozygous mutation in IL21R on chromosome 16p12.1.
combined immunodeficiency due to IL21R deficiency
A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2.
severe combined immunodeficiency due to LAT deficiency
A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in B-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has_material_basis_in homozygous or compound heterozygous mutation in CARMIL2 on chromosome 16q22.1.
severe combined immunodeficiency due to CARMIL2 deficiency
A monocyte, dendritic cell, and NK cell deficiency characterized by defects in monocyte, dendritic cell, and natural killer (NK) cell development or function resulting recurrent infections particularly viral nfections that has_material_basis_in homozygous or compound heterozygous mutation in IRF8 on chromosome 16q24.1.
immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive
A dendritic cell deficiency characterized by marked loss of CD11C-positive/CD1C dendritic cells and increased susceptibility to mycobacterial infections that has_material_basis_in heterozygous mutation in IRF8 on chromosome 16q24.1.
MSMD due to partial interferon regulatory factor 8 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency
immunodeficiency 32A, mycobacteriosis, autosomal dominant
A T cell deficiency characterized by decreased CD4 T-lymphocyte counts that has_material_basis_in heterozygous mutation in UNC119 on chromosome 17q11.2.
A combined immunodeficiency characterized by decreased titers of specific antibodies and impaired T cells proliferative responses to mitogens that has_material_basis_in homozygous or compound heterozygous mutation in MALT1 on chromosome 18q21.32.
combined immunodeficiency due to MALT1 deficiency
A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozygous mutation in TYK2 on chromosome 19p13.2.
autosomal recessiv HIES with atypical mycobacteriosis
autosomal recessive hyper-IgE syndrome with atypical mycobacteriosis
susceptibility to infection due to TYK2 deficiency
A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in IL12RB1 on chromosome 19p13.11.
MSMD due to complete interleukin 12 receptor beta 1 deficiency
Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
A B cell deficiency characterized by onset late in the first decade of life of recurrent upper and lower respiratory infections, impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies that has_material_basis_in homozygous or compound heterozygous mutation in ARHGEF1 on chromosome 19q13.2.
A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in RELB on chromosome 19q13.32.
A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in GINS1 on chromosome 20p11.21.
combined immunodeficiency due to GINS1 deficiency
A primary immunodeficiency disease characterized by impaired control the replication of certain viruses and failure to develop an antiviral state in response to alpha-interferon or beta-interferon that has_material_basis_in homozygous or compound heterozygous mutation in IFNAR2 on chromosome 21q22.11.
A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in IFNGR2 on chromosome 21q22.11.
MSMD due to complete IFNgammaR2 deficiency
MSMD due to complete interferon gamma receptor 2 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency
A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in IL17RA on chromosome 22q11.1.
A T cell and NK cell immunodeficiency characterized by increased numbers but impaired differentiation of NK cells, T cell abnormalities, recurrent infections, and abnormal immune pathway activation resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in IL2RB on chromosome 22q12.3.
immunodeficiency 63 with lymphoproliferation and autoimmunity
A primary immunodeficiency disease characterized by onset in infancy of recurrent bacterial infections and defective immune cell migration and chemotaxis primarily in neutrophils although other cell types may also be affected that has_material_basis_in homozygous or compound heterozygous mutation in MKL1 on chromosome 22q13.1-q13.2.
A B cell deficiency characterized by onset in early childhood of recurrent infections due to an intrinsic defect in the ability of B cells to produce antibodies that has_material_basis_in hemizygous mutation in SH3KBP1 on chromosome Xp22.12.
A phagocyte bactericidal dysfunction characterized by impaired respiratory burst in all types of phagocytes and increased susceptibility to infection by poorly virulent mycobacteria that has_material_basis_in hemizygous mutation in CYBB on chromosome Xp21.1-p11.4.
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
familial atypical mycobacteriosis X-linked 2
immunodeficiency 34, mycobacteriosis, X-linked
A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12.
X-linked Moesin-associated immunodeficiency
combined immunodeficiency due to Moesin deficiency
A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in ATP6AP1 on chromosome Xq28.
congenital disorder of glycosylation type IIs
immunodeficiency and hepatopathy with or without neurologic features
A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in IKBKG on chromosome Xq28.
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency
A combined immunodeficiency characterized by thrombocytopenia, impaired neutrophil and T-cell chemotaxis, impaired T-cell activation, and onset in infancy or early childhood of recurrent infections and inflammatory features that has_material_basis_in homozygous or compound heterozygous mutation in ARPC1B on chromosome 7q22.1.
immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia
platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
A combined T cell and B cell immunodeficiency characterized by decreased CD4+ T cells, decreased CD19+ B cells, recurrent bacterial infections, and severe cutaneous warts on the hands, feet, and face that has_material_basis_in heterozygous mutation in IVNS1ABP on chromosome 1q25.3.
A T cell and NK cell immunodeficiency characterized by increased susceptibility to disseminated mycobacterial infection and failure of T and NK cells to produce gamma-interferon when stimulated in vitro that has_material_basis_in homozygous or compound heterozygous mutation in IFNG on chromosome 12q15.
A growth hormone secreting pituitary adenoma characterized by adult-onset sporadic acromegaly and somatic somatotropinoma that has_material_basis_in mutation in GPR101 on chromosome Xq26.3.
growth hormone secreting pituitary adenoma 2
A pituitary adenoma characterized by development of different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in CDH23 on chromosome 10q22.1.
A pituitary adenoma characterized by different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in AIP on chromosome 11q13.2.
A pituitary adenoma characterized by development of predominantly GH-secreting pituitary adenomas but also in some patients ACTH-secreting adenomas that has_material_basis_in somatic mutation in GNAS on chromosome 20q13.32.
A keratosis characterized by a bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe pruritus of lesions.
mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques
palmoplantar and periorificial keratoderma
mutilating palmoplantar keratoderma with periorificial keratotic plaques
A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12.
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques
A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in TRPV3 on chromosome 17p13.2.
autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques
A bladder disease characterized by a massively dilated urinary bladder with disruption of the smooth muscle in the wall of the bladder that has_material_basis_in heterozygous mutation in MYOCD on chromosome 17p12.
A combined immunodeficiency characterized by onset in the first year of life of recurrent infections or systemic inflammation, increased susceptibility to bacterial and viral infections, development of atopy or allergies, hepatosplenomegaly, lymphoproliferation and variable immune cell abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in NCKAP1L on chromosome 12q13.1-q13.2.
immunodeficiency 72 with autoinflammation
A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males and mild intellectual disability in females, in addition males are relatively short with a large head and have a highly arched palate, square face, prominent ears, and large testicular volumes that has_material_basis_in hemizygous or heterozygous mutation in a region on chromosome Xp22.3.
non-syndromic X-linked intellectual disability 2
A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males that has_material_basis_in hemizygous mutation in a region on chromosome Xp22.2.
non-syndromic X-linked intellectual disability 73
A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation in FRMPD4 on chromosome Xp22.2.
non-syndromic X-linked intellectual disability 104
A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous or heterozygous mutation in RPS6KA3 on chromosome Xp22.12.
non-syndromic X-linked intellectual disability 19
A non-syndromic X-linked intellectual disability characterized by intellectual disability and facial feature anomalies that has_material_basis_in hemizygous mutation in KLHL15 on chromosome Xp22.11.
non-syndromic X-linked intellectual disability 103
A non-syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that has_material_basis_in hemizygous mutation in ARX on chromosome Xp21.3.
X-linked mental retardation 29 and others
X-linked mental retardation with or without seizures ARX-related
non-syndromic X-linked intellectual disability ARX-related
A non-syndromic X-linked intellectual disability characterized by a spectrum of cognitive neurologic impairments ranging from moderate mental retardation to high-functioning autism that has_material_basis_in hemizygous mutation in IL1RAPL1 on chromosome Xp21.3-p21.2.
non-syndromic X-linked intellectual disability 21
A non-syndromic X-linked intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11-q21.
non-syndromic X-linked intellectual disability 20
A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and no consistent dysmorphic features that has_material_basis_in hemizygous mutation in TSPAN7 on chromosome Xp11.4.
non-syndromic X-linked intellectual disability 58
A syndromic X-linked intellectual disability characterized by delayed psychomotor development, mild to moderate intellectual disability, and a wide range of additional congenital anomalies that has_material_basis_in heterozygous mutation in USP9X on chromosome Xp11.4.
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
female-restricted syndromic X-linked mental retardation 99
female-restricted syndromic X-linked intellectual disability 99
A non-syndromic X-linked intellectual disability characterized by developmental delay, hypotonia, and variable behavioral abnormalities that has_material_basis_in hemizygous mutation in USP9X on chromosome Xp11.4.
non-syndromic X-linked intellectual disability 99
A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and impaired speech that has_material_basis_in mutation in a region on chromosome Xp11.3-q13.3.
non-syndromic X-linked intellectual disability 14
A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability during childhood, large and simple ears, relatively large hands, and normal behavior that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21.
non-syndromic X-linked intellectual disability 45
A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21.
X-linked intellectual developmental disorder 50
non-syndromic X-linked intellectual disability 50
A non-syndromic X-linked intellectual disability characterized by nonspecific intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3-q22.3.
non-syndromic X-linked intellectual disability 84
A non-syndromic X-linked intellectual disability characterized by severe developmental delay that has_material_basis_in heterozygous mutation in a region on chromosome Xp11.3.
non-syndromic X-linked intellectual disability 89
A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3.
non-syndromic X-linked intellectual disability 92
A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.2-q12.
non-syndromic X-linked intellectual disability 81
A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability that has_material_basis_in hemizygous mutation in FTSJ1 on chromosome Xp11.23.
non-syndromic X-linked intellectual disability 9
A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disabillity that has_material_basis_in hemizygous mutation in SYP on chromosome Xp11.23.
non-syndromic X-linked intellectual disability 96
A non-syndromic X-linked intellectual disability characterized by borderline to moderate intellectual disability, variable poor or absent speech, and behavioral problems that has_material_basis_in hemizygous mutation in USP27X on chromosome Xp11.23.
non-syndromic X-linked intellectual disability 105
A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and slow speech development that has_material_basis_in duplication of a small region within chromosome Xp11.22 involving both HSD17B10 and HUWE1.
A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in IQSEC2 on chromosome Xp11.22.
non-syndromic X-linked intellectual disability 1
A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability, severe speech problems and aggressive behavior that has_material_basis_in hemizygous mutation in a region on chromosome Xq12-q21.3.
non-syndromic X-linked intellectual disability 77
A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in KIF4A on chromosome Xq13.1.
non-syndromic X-linked intellectual disability 100
A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in DLG3 on chromosome Xq13.1.
non-syndromic X-linked intellectual disability 90
A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in RLIM on chromosome Xq13.2.
intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia
A non-syndromic X-linked intellectual disability characterized by severe intellectual disability that has_material_basis_in heterozygous mutation in a region on chromosome Xq13.3.
non-syndromic X-linked intellectual disability 91
A non-syndromic X-linked intellectual disability characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures, with males generally more severely affected than females that has_material_basis_in heterozygous or hemizygous mutation in NEXMIF on chromosome Xq13.3.
non-syndromic X-linked intellectual disability 98
A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and macrocephaly that has_material_basis_in hemizygous mutation in BRWD3 on chromosome Xq21.1.
X-linked mental retardation with macrocephaly
non-syndromic X-linked intellectual disability 93
A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability with speech delay that has_material_basis_in mutation in ZNF711 on chromosome Xq21.1.
non-syndromic X-linked intellectual disability 97
A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq22.2-q26.
non-syndromic X-linked intellectual disability 53
A non-syndromic X-linked intellectual disability characterized by global developmental delay that has_material_basis_in hemizygous mutation in MID2 on chromosome Xq22.3.
non-syndromic X-linked intellectual disability 101
A non-syndromic X-linked intellectual disability characterized by decreased verbal but not performance IQs that has_material_basis_in mutation in a region on chromosome Xq23-q24.
non-syndromic X-linked intellectual disability 23
A non-syndromic X-linked intellectual disability characterized by moderate to severe nonprogressive intellectual disability in males and moderate intellectual disability to normal intelligence in females that has_material_basis_in heterozygous mutation in ACSL4 on chromosome Xq23.
non-syndromic X-linked intellectual disability 63
A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disablity that has_material_basis_in hemizygous mutation in PAK3 on chromosome Xq23.
non-syndromic X-linked intellectual disability 30
A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq24-q25.
non-syndromic X-linked intellectual disability 82
A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in mutation in a region on chromosome Xq24.
non-syndromic X-linked intellectual disability 88
A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous or hemizygous mutation in CXorf56 on chromosome Xq24.
non-syndromic X-linked intellectual disability 107
A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability in most patients that has_material_basis_in hemizygous mutation in a region on chromosome Xq25-q26.
non-syndromic X-linked intellectual disability 46
A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemizygous mutation in THOC2 on chromosome Xq25.
X-linked intellectual disability-short stature-overweight syndrome
A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xq26.
non-syndromic X-linked intellectual disability 42
A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in GDI1 on chromosome Xq28.
non-syndromic X-linked intellectual disability 41
A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in RAB39B on chromosome Xq28.
non-syndromic X-linked intellectual disability 72
A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability, impaired language development, and variable additional features including; behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms that has_material_basis_in heterozygous or hemizygous mutation in CLCN4 on chromosome Xp22.2.
A combined immunodeficiency characterized by onset of recurrent infections in infancy or early childhood and variable immune system abnormalities including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TCR excision circles and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis that has_material_basis_in heterozygous gain-of-function mutation in RAC2 on chromosome 22q13.1.
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
A combined immunodeficiency characterized by onset of recurrent infection in early childhood, impaired neutrophil chemotaxis, decreased B cells, hypogammaglobulinemia, and other variable features that has_material_basis_in homozygous or compound heterozygous mutation in RAC2 on chromosome 22q12.
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
A T cell deficiency characterized by severe respiratory insufficiency in response to infection with the COVID19 coronavirus and impaired signaling through the TLR7 pathway that has_material_basis_in hemizygous mutation in TLR7 on chromosome Xp22.2.
X-linked immunodeficiency 74,COVID-19-related
respiratory insufficiency due to SARS-CoV-2 viral infection
A combined immunodeficiency characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, decreased TCR excision circles, decreased neutrophil chemotaxis, and T-cell abnormalities that has_material_basis_in heterozygous loss of function mutation in RAC2 on chromosome 22q13.1.
immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis
A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the nuclear genome.
nuclear type mitochondrial complex I deficiency
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compund heterozygous mutation in NDUFS2 on chromosome 1q23.
nuclear type mitochondrial complex I deficiency 6
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous and compound heterozygous mutation in NDUFB3 on chromosome 2q33.1.
nuclear type mitochondrial complex I deficiency 25
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFS1 on chromosome 2q33.3.
nuclear type mitochondrial complex I deficiency 5
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFA10 on chromosome 2q37.3.
nuclear type mitochondrial complex I deficiency 22
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF3 on chromosome 2p21.31.
nuclear type mitochondrial complex I deficiency 18
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TIMMDC1 on chromosome 3q13.33.
nuclear type mitochondrial complex I deficiency 31
A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in ACAD9 on chromosome 3q21.3.
mitochondrial complex 1 deficiency due to ACAD9 deficiency
nuclear type mitochondrial complex I deficiency 20
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFS6 on chromosome 5p15.33.
nuclear type mitochondrial complex I deficiency 9
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFS4 on chromosome 5q11.2.
nuclear type mitochondrial complex I deficiency 1
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF2 on chromosome 5q12.1.
nuclear type mitochondrial complex I deficiency 10
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFA2 on chromosome 5q31.3.
nuclear type mitochondrial complex I deficiency 13
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF4 on chromosome 6q16.1.
nuclear type mitochondrial complex I deficiency 15
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF6 on chromosome 8q22.1.
nuclear type mitochondrial complex I deficiency 17
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFB9 on chromosome 8q24.13.
nuclear type mitochondrial complex I deficiency 24
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFB8 on chromosome 10q24.31.
nuclear type mitochondrial complex I deficiency 32
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFS3 on chromosome 11p11.2.
nuclear type mitochondrial complex I deficiency 8
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFV1 on chromosome 11q13.2.
nuclear type mitochondrial complex I deficiency 4
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFS8 on chromosome 11q13.2.
nuclear type mitochondrial complex I deficiency 2
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TMEM126B on chromosome 11q14.1.
nuclear type mitochondrial complex I deficiency 29
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in FOXRED1 on chromosome 11q24.2.
nuclear type mitochondrial complex I deficiency 19
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFA9 on chromosome 12p13.32.
nuclear type mitochondrial complex I deficiency 26
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFA12 on chromosome 12q22.
nuclear type mitochondrial complex I deficiency 23
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NUBPL on chromosome 14q12.
nuclear type mitochondrial complex I deficiency 21
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF1 on chromosome 15q15.1.
nuclear type mitochondrial complex I deficiency 11
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MTFMT on chromosome 15q22.31.
nuclear type mitochondrial complex I deficiency 27
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF8 on chromosome 17q25.3.
nuclear type mitochondrial complex I deficiency 34
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFV2 on chromosome 18p11.22.
nuclear type mitochondrial complex I deficiency 7
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFS7 on chromosome 19p13.3.
nuclear type mitochondrial complex I deficiency 3
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFA11 on chromosome 19p13.3.
nuclear type mitochondrial complex I deficiency 14
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFA13 on chromosome 19p13.11.
nuclear type mitochondrial complex I deficiency 28
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF5 on chromosome 20p12.1.
nuclear type mitochondrial complex I deficiency 16
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFA6 on chromosome 22q13.2.
nuclear type mitochondrial complex I deficiency 33
A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in NDUFB11 on chromosome Xp11.3.
nuclear type mitochondrial complex I deficiency 30
A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in NDUFA1 on chromosome Xq24.
nuclear type mitochondrial complex I deficiency 12
A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the mitochondrial genome.
mitochondrial type mitochondrial complex I deficiency
A mitochondrial type mitochondrial complex I deficiency that has_material_basis_in mutation in MTND3 in the mitochondrial genome.
mitochondrial type mitochondrial complex I deficiency 1
A Sotos syndrome that has_material_basis_in heterozygous mutation in NFIX on chromosome 19p13.
A Sotos syndrome that has_material_basis_in heterozygous mutation in NSD1 or deletion in the chromosome region 5q35 that includes NSD1.
A Sotos syndrome that has_material_basis_in homozygous mutation in APC2 on chromosome 19p13.3.
A movement disease characterized by slowly progressive development of parkinsonian features and variably penetrant spasticity that has_material_basis_in hemizygous mutation in ATP6AP2 on chromosome Xp11.4.
X-linked parkinsonism-spasticity syndrome
A syndrome characterized by chondrodysplasia associated with other features including intrauterine growth retardation, hydrocephaly, macrocephaly, frontal bossing, microphthalmia, small low-set ears, and short flat nose that has_material_basis_in heterozygous mutation in HDAC6 on chromosome Xp11.23.
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
A neuroacanthocytosis characterized by absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, compensated hemolysis, and involuntary movements that has_material_basis_in mutation in XK on chromosome Xp21.1.
McLeod syndrome with or without chronic granulomatous disease
A myofibrillar myopathy characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in SVIL on chromosome 10p11.23.
A spermatogenic failure characterized by high prevelance of acephalic sperm and reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in CEP112 on chromosome 17q24.1.
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MIEF2 on chromosome 17p11.2.
combined oxidative phosphorylation deficiency 49
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS25 on chromosome 3p25.1.
combined oxidative phosphorylation deficiency 50
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NSUN3 on chromosome 3q11.2.
combined oxidative phosphorylation deficiency 48
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPL12 on chromosome 17q25.3.
combined oxidative phosphorylation deficiency 45
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS28 on chromosome 8q21.13.
combined oxidative phosphorylation deficiency 47
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS23 on chromosome 17q22.
combined oxidative phosphorylation deficiency 46
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TIMM22 on chromosome 17p13.3.
combined oxidative phosphorylation deficiency 43
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in QRSL1 on chromosome 6q21.
combined oxidative phosphorylation deficiency 40
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in GATC on chromosome 12q24.31.
combined oxidative phosphorylation deficiency 42
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in GATB on chromosome 4q31.3.
combined oxidative phosphorylation deficiency 41
A bone development disease characterized by height below the third percentile for chronological age that has_material_basis_in mutation in SHOX or SHOXY on chromosomes Xp22.33 and Yp11.2, respectively.
A renal tubular transport disease characterized by inappropriate antidiuretic hormone secretion resulting in inability to excrete a free water load, inappropriately concentrated urine, and undetectable or low plasma arginine vasopressin levels that has_material_basis_in hemizygous gain-of-function mutation in AVPR2 on chromosome Xq28.
nephrogenic syndrome of inappropriate antidiuresis
An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in SYN1 on chromosome Xp11.3-p11.2.
X-linked epilepsy-learning disabilities-behavior disorders syndrome
X-linked epilepsy with variable learning disabilities and behavior disorders
A syndrome characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, white-matter changes and disorganization of the Golgi apparatus that has_material_basis_in heterozygous mutation in BCAP31 on chromosome Xq28.
severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome
deafness, dystonia, and cerebral hypomyelination
A syndrome characterized by retinitis pigmentosa and recurrent respiratory infections with nasal ciliary abnormalities and hearing loss in some patients that has_material_basis_in mutation in RPGR on chromosome Xp11.4.
primary ciliary dyskinesia-retinitis pigmentosa syndrome
X-linked retinitis pigmentosa and sinorespiratory infections
A syndrome characterized by acquired alpha-thalassemia in association with a multilineage myelodysplasia that has_material_basis_in somatic mutation in ATRX on chromosome Xq21.1.
alpha-thalassemia-myelodysplastic syndrome
alpha-thalassemia myelodysplasia syndrome
A syndromic X-linked intellectual disability characterized by severe intellectual disability, hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections that has_material_basis_in mutation in SHROOM4 on chromosome Xp11.22.
Stocco dos Santos X-linked mental retardation syndrome
Stocco Dos Santos type X-linked intellectual disability
A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in HPRT1 on chromosome Xq26.2-q26.3.
hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency
hypoxanthine guanine phosphoribosyltransferase deficiency, grade I
hypoxanthine guanine phosphoribosyltransferase partial deficiency
A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23.
A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in CSF3R on chromosome 1p34.3.
autosomal recessive severe congenital neutropenia due to CSF3R deficiency
A severe congenital neutropenia that has_material_basis_in heterozygous mutation of an autosomal gene.
autosomal dominant severe congenital neutropenia
An autosomal dominant severe congenital neutropenia that has_material_basis_in heterozygous mutation in GFI1 on chromosome 1p22.1.
A severe congenital neutropenia characterized by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis that has_material_basis_in homozygous or compound heterozygous mutation in VPS45 on chromosome 1q21.2.
congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome
congenital neutropenia-myelofibrosis-nephromegaly syndrome
A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has_material_basis_in homozygous or compound heterozygous mutation in HAX1 on chromosome 1q21.3.
A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in JAGN1 on chromosome 3p25.3.
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
An autosomal dominant severe congenital neutropenia characterized by decreased neutrophils and onset of recurrent bacterial infections in early infancy that has_material_basis_in heterozygous mutation in SRP54 on chromosome 14q13.2.
autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities
A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in G6PC3 on chromosome 17q21.31.
autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in PTCD3 on chromosome 2p11.2.
combined oxidative phosphorylation deficiency 51
A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has_material_basis_in mutation homozygous or compound heterozygous in COQ5 on chromosome 12q24.31.
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFB10 on chromosome 16p13.3.
nuclear type mitochondrial complex I deficiency 35
A retinitis pigmentosa characterized by onset of night blindness in the first decade of life, decreased central vision in the second decade of life, and retinal degeneration that has_material_basis_in heterozygous mutation in ARL3 on chromosome 10q24.32.
A retinitis pigmentosa characterized by onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7 that has_material_basis_in homozygous or compound heterozygous mutation in DHX38 on chromosome 16q22.2.
A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in AHR on chromosome 7p21.1.
A retinitis pigmentosa characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity that has_material_basis_in mutation in KIAA1549 on chromosome 7q34.
A retinitis pigmentosa characterized by slowly progressive visual disturbance and extensive choroid/retinal atrophy that has_material_basis_in heterozygous mutation in RPE65 on chromosome 1p31.3.
retinitis pigmentosa 87 with choroidal involvement
A retinitis pigmentosa characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity that has_material_basis_in homozygous or compound heterozygous mutation in RP1L1 on chromosome 8p23.1.
A retinitis pigmentosa characterized by onset of retinitis pigmentosa in the first decade of life and additional features of ciliopathy that has_material_basis_in heterozygous mutation in KIF3B on chromosome 20q11.21.
A retinitis pigmentosa characterized by onset in the first decade of life of night blindness that has_material_basis_in homozygous or compound heterozygous mutation in IDH3A on chromosome 15q25.1.
A syndrome characterized by distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy that has_material_basis_in hemizygous mutation in FHL1 on chromosome Xq26.3.
Uruguay faciocardiomusculoskeletal syndrome
A syndrome characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy that has_material_basis_in heterozygous mutation in FLNA on chromosome Xq28.
digital osseous dysplasia with facial pigmentary defects and multiple frenula
terminal osseous dysplasia-pigmentary defects syndrome
A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28.
X-linked spondyloepimetaphyseal dysplasia
A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3.
corpus callosum agenesis with abnormal genitalia
microcephaly-corpus callosum agenesis-abnormal genitalia syndrome
corpus callosum agenesis-abnormal genitalia syndrome
A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has_material_basis_in homozygous or compound heterozygous mutation in PIGL on chromosome 17p11.2.
coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome
congenital disorder of glycosylation due to PIGL deficiency
A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2.
An inflammatory bowel disease characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease that has_material_basis_in heterozygous mutation in CARD8 on chromosome 19q13.33.
inflammatory bowel disease (Crohn disease) 30
An inflammatory bowel disease that has_material_basis_in heterozygous mutation in INAVA on chromosome 1q32.1.
An anemia characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia that has_material_basis_in hemizygous splice-site mutation in GATA1 on chromosome Xp11.23. This mutaion impairs expression of the long isoform of GATA1 but expression of a short form is seen.
X-linked anemia with/without neutropenia and/or platelet abnormalities
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
A macular degeneration characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment that has_material_basis_in hemizygous mutation in RPGR on chromosome Xp11.4.
A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration.
xeroderma pigmentosum with neurologic manifestation
An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of SLC12A2 on chromosome 5q23.3.
autosomal dominant nonsyndromic deafness 78
An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in SCD5 on chromosome 4q21.22.
autosomal dominant nonsyndromic deafness 79
A Noonan syndrome characterized by developmental delay, variably impaired intellectual development, reduced postnatal growth, and craniofacial anomalies that has_material_basis_in heterozygous mutation in MAPK1 on chromosome 22q11.22, where the mutation enhances phosphorylation of the kinase.
An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous or compound heterozygous mutation in CLDN9 on chromosome 16p13.3.
autosomal recessive nonsyndromic deafness 116
A spermatogenic failure characterized by male infertility due to severe teratozoospermia with multiple morphologic abnormalities of the flagella and disruption of the axonemal complex and mitochondrial sheath that has_material_basis_in homozygous or compound heterozygous mutation in DNAH2 on chromosome 17p13.1.
A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with multiple morphologic abnormalities of the flagella and disorganization of the axonemal and periaxonemal structures that has_material_basis_in homozygous or compound heterozygous mutation in DNAH8 on chromosome 6p21.2.
An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in PDE1C on chromosome 7p14.3.
autosomal dominant nonsyndromic deafness 74
An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in TRRAP on chromosome 7q22.1.
autosomal dominant nonsyndromic deafness 75
An autosomal dominant nonsyndromic deafness characterized by progressive or nonprogressive hearing loss with variable age at onset and typically is more severe at higher frequencies that has_material_basis_in heterozygous mutation in PLS1 on chromosome 3q23.
autosomal dominant nonsyndromic deafness 76
An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in ABCC1 on chromosome 16p13.11.
autosomal dominant nonsyndromic deafness 77
A Noonan syndrome characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and cardiac hypertrophy that has_material_basis_in heterozygous mutation in MRAS on chromosome 3q22.3.
A Noonan syndrome characterized by macrocephaly, facial anomalies including hypertelorism, downslanting palpebral fissures, and low-set ears, and other Noonan syndrome features that has_material_basis_in heterozygous mutation in RRAS2 on chromosome 11p15.2.
A syndrome characterized by sagging or wrinkly skin, reduced skin elasticity, delayed closure of the fontanel, typically mild developmental delay, and variable other skeletal, neurological and facial features that has_material_basis_in homozygous or compound heterozygous mutation in ATP6V0A2 on chromosome 12q24.31.
A blood coagulation disease characterized by reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors and the anticoagulant factors protein C and protein S resulting in a bleeding tendency that is usually reversed by oral administration of vitamin K that has_material_basis_in a heritable mutation.
hereditary combined deficiency of factors II, VII, IX and X
hereditary combined deficiency of vitamin K-dependent clotting factors
A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in GGCX on chromosome 2p11.2.
combined deficiency of vitamin K-dependent clotting factors 1
A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in VKORC1 on chromosome 16p11.2.
combined deficiency of vitamin K-dependent clotting factors 2
A spermatogenic failure characterized by asthenoteratospermia,reduced sperm concentrations, and immotile spermatozoa with short or absent flagella as well as centriolar abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in DZIP1 on chromosome 13q32.1.
A spermatogenic failure that is characterized by impaired spermatogenesis, primarily occurring at meiosis that has_material_basis_in homozygous or compound heterozygous mutation in M1AP on chromosome 2p13.1.
A syndrome characterized by aplasia of the uterus and upper part of the vagina in patients with normal secondary sex characteristics and a 46,XX karyotype.
A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by isolated utero-vaginal atresia in patients with an otherwise normal 46 XX karyotype.
Mayer-Rokitansky-Kuster-Hauser syndrome type 1
A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by congenital aplasia of the uterus and upper two thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects.
mullerian duct aplasia, unilateral renal aplasia, and cervicothoracic somite dysplasia
mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome
Mayer-Rokitansky-Kuster-Hauser syndrome type 2
A histidine metabolism disease characterized by urocanic aciduria and other variable manifestations including intellectual disability and intermittent ataxia that has_material_basis_in mutation homozygous or compound heterozygous in UROC1 on chromosome 3q21.3.
encephalopathy due to urocanase deficiency
A syndrome characterized by severe malformations of upper and lower limbs,severely hypoplastic pelvis, and abnormal genitalia that has_material_basis_in homozygous or compound heterozygous mutation in WNT7A on chromosome 3p25.1.
Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome
absence of ulna and fibula with severe limb deficiency
A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively.
constitutional mismatch repair deficiency syndrome
A congenital hypothyroidism characterized by thyroid hormone deficiency that is present from birth and results from defects in thyroid hormone synthesis.
A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOXA2 on chromosome 15q21.1.
genetic defect in thyroid hormonogenesis 5
A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in SLC5A5 on chromosome 19p13.11.
genetic defect in thyroid hormonogenesis 1
iodide accumulation, transport, or trapping defect
A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TPO on chromosome 2p25.3.
genetic defect in thyroid hormonogenesis 2A
A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TG on chromosome 8q24.22.
genetic defect in thyroid hormonogenesis 3
A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in IYD on chromosome 6q25.1.
genetic defect in thyroid hormonogenesis 4
A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOX2 on chromosome 15q21.1.
genetic defect in thyroid hormonogenesis 6
A distal arthrogryposis type 1 characterized by congenital contractures, scoliosis, and short stature that has_material_basis_in heterozygous or homozygous mutation in MYLPF on chromosome 16p11.2.
A syndrome characterized by rudimentary or absent appendages and anomalies involving the cranium and face, urogenital system, anorectum, heart, lungs, skeleton, and/or central nervous system.
tetraamelia-multiple malformations syndrome
A tetraamelia syndrome characterized by complete limb agenesis without defects of scapulae or clavicles that has_material_basis_in homozygous or compound heterozygous mutation in WNT3 on chromosome 17q21.31-q21.32.
A tetraamelia syndrome characterized by rudimentary or absent appendages, bilateral agenesis of the lungs, pulmonary vascular abnormalities, and dysmorphic features that has_material_basis_in homozygous or compound heterozygous mutation in RSPO2 on chromosome 8q23.1.
A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that has_material_basis_in homozygous or compound heterozygous mutation in CKAP2L on chromosome 2q14.1.
Scott craniodigital syndrome with mental retardation
type 1 syndactyly-microcephaly-intellectual disability syndrome
An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11.
spondyloperipheral dysplasia-short ulna syndrome
A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in DDR2 on chromosome 1q23.3.
SMED short limb-abnormal calcification type
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
spondylometaepiphyseal dysplasia short limb-hand type
spondylometaepiphyseal dysplasia, short limb-hand type
A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility.
spondyloepimetaphyseal dysplasia with joint laxity
A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has_material_basis_in homozygous or compound heterozygous mutation in B3GALT6 on chromosome 1p36.33.
spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
spondyloepimetaphyseal dysplasia with joint laxity type 1
A spondyloepimetaphyseal dysplasia with joint laxity characterized by short stature, distinctive midface retrusion, progressive knee malalignment, generalized ligamentous laxity, multiple joint dislocations, and mild spinal deformity that has_material_basis_in heterozygous mutation in KIF22 on chromosome 16p11.2.
spondyloepimetaphyseal dysplasia with joint laxicity, Hall type
spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type
spondyloepimetaphyseal dysplasia with joint laxity type 2
A spondyloepimetaphyseal dysplasia with joint laxity characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones that has_material_basis_in homozygous or compound heterozygous mutation in EXOC6B on chromosome 2p13.2.
spondyloepimetaphyseal dysplasia with joint laxity type 3
An osteogenesis imperfecta characterized by multiple fractures that often occur after minor trauma, disproportionate short stature, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in KDELR2 on chromosome 7p22.1.
An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood.
developmental and epileptic encephalopathy
A developmental and epileptic encephalopathy characterized by onset in the first months of lifes of seizures, global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior that has_material_basis_in heterozygous mutation in CUX2 on chromosome 12q24.11-q24.12.
early infantile epileptic encephalopathy 67
developmental and epileptic encephalopathy 67
A developmental and epileptic encephalopathy characterized by progressive development of seizures starting in infancy, developmental delay, axial hypotonia, spasticity of the limbs, clonus, and cortical atrophy that has_material_basis_in homozygous or compound heterozygous mutation in TRAK1 on chromosome 3p22.1.
early infantile epileptic encephalopathy 68
developmental and epileptic encephalopathy 68
A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that has_material_basis_in heterozygous mutation in CACNA1E on chromosome 1q25.3.
early infantile epileptic encephalopathy 69
developmental and epileptic encephalopathy 69
A developmental and epileptic encephalopathy characterized by onset in the first months of life of of epileptic spasms or seizures, hypsarrhythmia on EEG, severely delayed psychomotor development with impaired or absent walking and language skills, and moderate to severe intellectual impairment that has_material_basis_in heterozygous mutation in PHACTR1 on chromosome 6p24.1.
early infantile epileptic encephalopathy 70
developmental and epileptic encephalopathy 70
A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2.
early infantile epileptic encephalopathy 71
glutaminase deficiency with neonatal epileptic encephalopathy
developmental and epileptic encephalopathy 71
A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on EEG, and severely delayed psychomotor development with impaired or absent walking and language skills that has_material_basis_in heterozygous mutation in NEUROD2 on chromosome 17q12.
early infantile epileptic encephalopathy 72
developmental and epileptic encephalopathy 72
A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has_material_basis_in heterozygous mutation in RNF13 on chromosome 3q25.1.
early infantile epileptic encephalopathy 73
developmental and epileptic encephalopathy 73
A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language that has_material_basis_in heterozygous mutation in GABRG2 on chromosome 5q34.
early infantile epileptic encephalopathy 74
developmental and epileptic encephalopathy 74
A developmental and epileptic encephalopathy characterized by onset in the first months of life of severe refractory seizures, multifocal spikes and hypsarrhythmia on EEG, severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutation in PARS2 on chromosome 1p32.3.
early infantile epileptic encephalopathy 75
developmental and epileptic encephalopathy 75
A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in ACTL6B on chromosome 7q22.1.
developmental delay, epileptic endephalopathy, cerebral atrophy, and abnormal myelination
early infantile epileptic encephalopathy 76
developmental and epileptic encephalopathy 76
A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in PIGQ on chromosome 16p13.3.
early infantile epileptic encephalopathy 77
glycosylphosphatidylinositol biosynthesis defect 19
multiple congenital anomalies-hypotonia-seizures syndrome-4
developmental and epileptic encephalopathy 77
A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that has_material_basis_in heterozygous mutation in GABRA2 on chromosome 4p12.
early infantile epileptic encephalopathy 78
developmental and epileptic encephalopathy 78
A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has_material_basis_in heterozygous mutation in GABRA5 on chromosome 15q12.
early infantile epileptic encephalopathy 79
developmental and epileptic encephalopathy 79
A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory seizures, severe global developmental delay, and defective synthesis of glycosylphosphatidylinositol that has_material_basis_in homozygous or compound heterozygous mutation in PIGB on chromosome 15q21.3.
early infantile epileptic encephalopathy 80
glycosylphosphatidylinositol biosynthesis defect 20
developmental and epileptic encephalopathy 80
A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of severe refractory seizures, little developmental progress, cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in DMXL2 on chromosome 15q21.2.
early infantile epileptic encephalopathy 81
developmental and epileptic encephalopathy 81
A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in UGP2 on chromosome 2p15.
early infantile epileptic encephalopathy 83
developmental and epileptic encephalopathy 83
A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures, severely impaired global development, impaired intellectual development, absent speech, and inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in UGDH on chromosome 4p14.
early infantile epileptic encephalopathy 84
developmental and epileptic encephalopathy 84
A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in DALRD2 on chromosome 3p21.31.
early infantile epileptic encephalopathy 86
developmental and epileptic encephalopathy 86
A developmental and epileptic encephalopathy characterized by global developmental delay, severely impaired motor and cognitive development, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age that has_material_basis_in heterozygous mutation in CDK19 on chromosome 6q21.
early infantile epileptic encephalopathy 87
developmental and epileptic encephalopathy 87
A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in MDH1 on chromosome 2p15.
early infantile epileptic encephalopathy 88
developmental and epileptic encephalopathy 88
A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of seizures, profound global developmental delay with impaired intellectual development, absent speech, axial hypotonia, and spastic quadriparesis that has_material_basis_in homozygous or compound heterozygous mutation in GAD1 on chromosome 2q31.1.
early infantile epileptic encephalopathy 89
developmental and epileptic encephalopathy 89
An osteochondrodysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, joint hyperlaxity and/or dislocations, micrognathia, cleft palate, brachydactyly, short metacarpals, supernumerary carpal ossification centers and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in IMPAD1 on chromosome 8q12.
chondrodysplasia with joint dislocations gPAPP type
A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in homozygous or compound heterozygous mutation in GCH1 on chromosome 14q22.2.
tetrahydrobiopterin-deficient hyperphenylalaninemia B
A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has_material_basis_in heterozygous mutation in NR2F1 on chromosome 5q15.
optic atrophy-intellectual disability syndrome
Bosch-Boonstra-Schaaf optic atrophy syndrome
A congenital nervous system abnormality characterized by complex cortical malformations including in most cases dysmorphic basal ganglia that has_material_basis_in mutation in one or more of the tubulin genes.
A lissencephaly characterized by global developmental delay, impaired intellectual development with poor or absent speech, pachygyria, lissencephaly, and malformation of the brainstem that has_material_basis_in heterozygous mutation in MACF1 on chromosome 1p34.3.
posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
lissencephaly 9 with complex brainstem malformation
A lissencephaly characterized by variably delayed development, mildly to moderately impaired intellectual development and language delay, seizures, brain features consistent with neuronal migration defects that has_material_basis_in heterozygous mutation in CEP85L on chromosome 6q22.31.
A lissencephaly characterized by hydrocephalus, seizures, severely delayed psychomotor development, and cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia that has_material_basis_in homozygous or compound heterozygous mutation in LAMB1 on chromosome 7q31.1.
A lissencephaly characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy that has_material_basis_in homozygous or compound heterozygous mutation in CDK5 on chromosome 7q36.1.
lissencephaly 7 with cerebellar hypoplasia
A lissencephaly characterized by brain malformations, microcephaly, developmental delay and epilepsy that has_material_basis_in heterozygous mutation in TUBA1A on chromosome 12q13.12.
A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in TMTC3 on chromosome 12q21.32.
A lissencephaly characterized by lissencephaly in combination with severe congenital microcephaly.
A microlissencephaly characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in NDE1 on chromosome 16p13.11.
A microlissencephaly characterized by severe microcephaly, developmental delay, lissencephaly, pachygyria, and hypoplasia of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in KATNB1 on chromosome 16q21.
A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in mutation heterozygous in PAFAH1B1 on chromosome 17p13.3.
A lissencephaly characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia that has_material_basis_in mutation in ARX on chromosome Xp21.3.
X-linked lissencephaly with abnormal genitalia
X-linked lissencephaly with ambiguous genitalia
X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome
XLAG (X-linked lissencephaly with abnormal genitalia) syndrome
A lissencephaly characterized by classic lissencephaly and intellectual disability in males that has_material_basis_in mutation in DCX on chromosome Xq23.
lissencephaly type 1 due to doublecortin gene mutation
A sensory system disease characterized by early-onset and severe photoreceptor and cochlear cell loss that has_material_basis_in heterozygous mutation in TUBB4B on chromosome 9q34.3.
Leber congenital amaurosis with early-onset deafness
A skin disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin.
circumferential skin creases, Kunze type
multiple benign circumferential skin creases on limbs
A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in TUBB on chromosome 6p21.33.
congenital symmetric circumferential skin creases 1
A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in MAPRE2 on chromosome 18q12.1-q12.2.
congenital symmetric circumferential skin creases 2
A syndrome characterized by alopecia, neurologic defects, and endocrinopathy that has_material_basis_in homozygous or compound heterozygous mutation in RBM28 on chromosome 7q32.1.
alopecia-progressive neurological defect-endocrinopathy syndrome
alopecia, neurologic defects, and endocrinopathy syndrome
A focal segmental glomerulosclerosis that has_material_basis_in loss of function mutation in CD2AP on chromosome 6p12.3.
A peroxisomal disease characterized by isolated accumulation of glutaric acid in the absence of other clinical phenotype that has_material_basis_in homozygous or compound heterozygous mutation in SUGCT on chromosome 7p14.1.
A syndrome characterized by congenital heart defects, dysmorphic facial features, and impaired intellectual developmental that has_material_basis_in heterozygous mutation in CDK13 on chromosome 7p14.1.
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
A pseudohermaphroditism characterized by undermasculinization in males including hypoplastic-to-normal internal genitalia with female external genitalia and the absence of a prostate, impaired testicular synthesis of testosterone resulting in insufficient formation of dihydrotestosterone during fetal development and resulting in pseudohermaphroditism in males that has_material_basis_in homozygous or compound heterozygous mutation of HSD17B3 on chromosome 9q22.
17-beta-hydroxysteroid dehydrogenase 3 deficiency
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
male pseudohermaphroditism with gynecomastia
neutral 17-beta-hydroxysteroid oxidoreductase deficiency
17-beta hydroxysteroid dehydrogenase 3 deficiency
A syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations that has_material_basis_in homozygous or compound heterozygous mutation in ANTXR1 on chromosome 2p13.3.
growth delay-alopecia-pseudoanodontia-optic atrophy syndrome
A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in GBA on chromosome 1q22.
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
A syndrome characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia that has_material_basis_in homozygous or compound heterozygous mutation in TBXAS1 on chromosome 7q34.
A glutathione synthetase deficiency characterized by hemolytic anemia and deficiency in GSH that is limited to the red blood cells, with nucleated cells able to maintain normal or near normal expression levels that has_material_basis_in homozygous or compound heterozygous mutation in GSS on chromosome 20q11.22.
glutathione synthetase deficiency without 5-oxoprolinuria
glutathione synthetase deficiency of erythrocytes
A combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that has_material_basis_in homozyous or compound heterozygous mutation in RAG1 or RAG2 on chromosome 11p12.
combined immunodeficiency due to RAG 1/2 deficiency
combined immunodeficiency with granulomatosis
combined immunodeficiency with skin granulomas
combined cellular and humoral immune defects with granulomas
A syndrome characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells, hepatic vascular occlusion, and fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in SP110 on chromosome 2q37.1.
hepatic veno-occlusive disease-immunodeficiency syndrome
hepatic venoocclusive disease with immunodeficiency
An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in MTRR on chromosome 5p15.31.
functional methionine synthase deficiency type cblE
homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblE complementation type
vitamin B12-responsive homocystinuria, cblE type
homocystinuria-megaloblastic anemia cblE type
An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine, impaired methionine synthase activity in the presence of a reducing agent, and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in MTR on chromosome 1q43.
homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblG complementation type
homocystinuria-megaloblastic anemia, cblG complementation type
homocystinuria-megaloblastic anemia cblG type
An amino acid metabolic disorder characterized by impaired tryptophan metabolism resulting in high urinary excretion of kynurenine, xanthurenic acid and 3-hydroxykynurenine that has_material_basis_in homozygous or compound heterozygous mutation in KYNU on chromosome 2q22.2.
A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in NAGS on chromosome 17q21.31.
N-acetyl glutamate synthetase deficiency
hyperammonemia due to N-acetylglutamate synthase deficiency
A pseudohermaphroditism that has_material_basis_in homozygous or compound heterozygous mutation in LHCGR on chromosome 2p16.3.
46,XY DSD due to LH resistance or LHB deficiency
46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
46,XY disorder of sex development due to LH resistance or LHB deficiency
46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
A Leydig cell hypoplasia characterized by 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics that has_material_basis_in homozygous or compound heterozygous complete inactivation mutation in LHCGR on chromosome 2p16.3.
46,XY DSD due to complete LH receptor inactivation
46,XY DSD due to complete luteinizing hormone receptor inactivation
46,XY DSD due to complete luteinizing hormone resistance
46,XY disorder of sex development due to complete LH receptor inactivation
46,XY disorder of sex development due to complete LH resistance
46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation
46,XY disorder of sex development due to complete luteinizing hormone resistance
Leydig cell hypoplasia due to complete LH receptor inactivation
Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation
Leydig cell hypoplasia due to complete luteinizing hormone resistance
A Leydig cell hypoplasia characterized by variable features ranging from micropenis to severe hypospadias and bifid scrotum that has_material_basis_in homozygous or compound heterozygous partial inactivation mutation in LHCGR on chromosome 2p16.3.
46,XY DSD due to partial LH receptor inactivation
46,XY DSD due to partial luteinizing hormone resistance
46,XY disorder of sex developement due to partial LH receptor inactivation
46,XY disorder of sex developement due to partial LH resistance
46,XY disorder of sex developement due to partial luteinizing hormone resistance
Leydig cell hypoplasia due to partial LH receptor inactivation
Leydig cell hypoplasia due to partial LH resistance
Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation
Leydig cell hypoplasia due to partial luteinizing hormone resistance
An amino acid metabolic disorder characterized by development of hypoglycemia after high-protein feedings or leucine infusion that has_material_basis_in heterozygous mutation in SUR1 on chromosome 11p15.1.
leucine-sensitive hypoglycemia of infancy
An inherited metabolic disorder characterized by neonatal macrosomia, asymmetrical overgrowth, and recurrent, severe hypoinsulinemic hypoglycemia in infancy that has_material_basis_in heterozygous activating mutation in AKT2 on chromosome 19q13.2.
hypoinsulinemic hypoglycemia and body hemihypertrophy
hypoinsulinemic hypoglycemia with hemihypertrophy
A syndrome characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia that has_material_basis_in homozygous or compound heterozygous mutation in DCAF17 on chromosome 2q31.1.
diabetes-hypogonadism-deafness-intellectual disability syndrome
diabetes-hypogonadism-hearing loss-intellectual disability syndrome
hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome
progressive extrapyramidal disorder with primary hypogonadism, mental retardation, alopecia
A renal tubular transport disease characterized by impaired renal tube reabsorption of proline, hydroxyproline and glycine and elevated urine levels of the imino acids and glycine that has_material_basis_in homozygous mutation in SLC36A2 on chromosome 5q33.1 combined with either heterozygous mutation in SLC6A20 gene on chromosome 3p21.31 or homozygous mutation in SLC6A19 on chromosome 5p15.33.
A familial nephrotic syndrome characterized by onset of proteinuria in the first or second decade of life, mesangial hypercellularity, focal segmental glomerulosclerosis, and effacement of podocyte foot processes that has_material_basis_in homozygous or compound heterozygous mutation in KIRREL1 on chromosome 1q23.1.
A familial nephrotic syndrome characterized by onset of rapidly, progressive kidney dysfunction in the first year of life, proteinuria, and diffuse mesangial sclerosis that has_material_basis_in homozygous or compound heterozygous mutation in AVIL on chromosome 12q14.1.
A familial nephrotic syndrome characterized by onset of progressive kidney dysfunction in infancy, edema, hypoproteinemia, proteinuria, microscopic hematuria, effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane that has_material_basis_in homozygous or compound heterozygous mutation in NOS1AP on chromosome 1q23.3.
A primary ovarian insufficiency characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1.
A spermatogenic failure that is characterized by non-obstructive azoospermia resulting from meiotic arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1.
A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella resulting in markedly reduced or no progressive motility that has_material_basis_in homozygous or compound heterozygous mutation in CFAP58 on chromosome 10q25.1.
A spermatogenic failure that is characterized by azoospermia resulting from meiotic arrest at prophase I that has_material_basis_in homozygous or compound heterozygous mutation in XRCC2 on chromosome 7q36.1.
A spermatogenic failure characterized by severe asthenoteratozoospermia with multiple morphologic abnormalities of the flagella resulting in reduced to absent motility that has_material_basis_in homozygous or compound heterozygous mutation in CFAP91 on chromosome 3q13.33.
A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the flagella that has_material_basis_in hemizygous mutation in CFAP47 on chromosome Xp21.1.
A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in ATP6V1A on chromosome 3q13.31.
infantile or early childhood epileptic encephalopathy 3
developmental and epileptic encephalopathy 93
A movement disease characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis that has_material_basis_in heterozygous mutation of GNAO1 on chromosome 16q13.
neurodevelopmental disorder with involuntary movements
A T cell deficiency characterized by childhood onset of recurrent and recalcitrant skin warts due to uncontrolled viral infection with human papillomavirus and absence of the CD4 antigen on T cells, monocytes, and dendritic cells that has_material_basis_in homozygous or compound heterozygous mutation in CD4 on chromosome 12p13.
A primary ovarian insufficiency characterized by irregular menses that cease in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in HSF2BP on chromosome 21q22.
A spermatogenic failure characterized by infertility resulting from absence of oocyte activation and ultrastructural abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in ACTL9 on chromosome 19p13.2.
An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs.
A spondyloepiphyseal dysplasia characterized by accumulation of glycoprotein in chondrocytes, progressive joint contracture with premature degenerative joint disease, generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11.
spondyloepiphyseal dysplasia Stanescu type
A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in ACAN on chromosome 15q26.1.
spondyloepiphyseal dysplasia Kimberley type
A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in MBTPS1 on chromosome 16q23.3-q24.1.
SED with elevated blood lysosomal enzymes
spondyloepiphyseal dysplasia Kondo-Fu type
A spondyloepiphyseal dysplasia characterized by impaired growth of the bones of the spine and the ends of the long bones that becomes apparent in after birth.
A spondyloepiphyseal dysplasia tarda that has_material_basis_in heterozygous mutation in a region of chromosome 12q13.
autosomal dominant spondyloepiphyseal dysplasia tarda
A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia and punctate dystrophy of the full depth of the corneal stroma.
spondyloepiphyseal dysplasia with punctate corneal dystrophy
A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech.
SED-brachydactyly and distinctive speech
spondyloepiphyseal dysplasia, Cantu type
spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
A spondyloepiphyseal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, midface hypoplasia with a small nose, mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses that has_material_basis_in heterozygous gain-of-function mutation in MIR140 on chromosome 16q22.1.
spondyloepiphyseal dysplasia Nishimura type
A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of skeletal dysplasia, microcephaly, unusual facies, and moderate developmental delay.
spondyloepiphyseal dysplasia tarda with characteristic facies
A syndrome characterized by early-onset retinal degeneration, sensorineural hearing loss, short stature, vertebral anomalies, epiphyseal dysplasia, and motor and intellectual delay that has_material_basis_in homozygous or compound heterozygous mutation in NMNAT1 on chromosome 1p36.22.
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance with late-onset of short-trunk type of short stature, abnormal spinal curvature, and minor leg deformities.
autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type
A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of spondyloepiphyseal dysplasia associated with mild to moderate intellectual disability.
spondyloepiphyseal dysplasia tarda with intellectual disability
A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of short stature, flat vertebrae, and severe hip disease.
autosomal recessive spondyloepiphyseal dysplasia tarda
A syndrome characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and intellectual disability.
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability
An osteochondrodysplasia characterized by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions.
A spondylometaphyseal dysplasia characterized by dwarfism, genu valgum deformity, progressive kypho-scoliosis, wrist deformity, myopia and severe metaphyseal dysplasia, with moderate spinal changes and minimal changes in the hands and feet.
spondylometaphyseal dysplasia with severe genu valgum
spondylometaphyseal dysplasia, Schmidt type
spondylometaphyseal dysplasia Algerian type
A spondylometaphyseal dysplasia characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures that has_material_basis_in heterozygous mutation in FN1 on chromosome 2q35.
spondylometaphyseal dysplasia Sutcliffe type
spondylometaphyseal dysplasia corner fracture type
A spondylometaphyseal dysplasia characterized by neonatal lethality, severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, pulmonary hemorrhage, severe hypotonia and cardiorespiratory problems that has_material_basis_in homozygous or compound heterozygous mutation in GPX4 on chromosome 19p13.3.
congenital lethal metaphyseal chondrodysplasia
spondylometaphyseal dysplasia Sedaghatian type
A spondylometaphyseal dysplasia characterized by postnatal growth failure, metaphyseal changes of truncal-juxtatruncal bones, and retinal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in CFAP410 on chromosome 21q22.3.
A spondylometaphyseal dysplasia characterized by postnatal growth deficiency, profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in PCYT1A on chromosome 3q29.
spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
spondylometaphyseal dysplasia with cone-rod dystrophy
A spondylometaphyseal dysplasia characterized by severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral bodies with anterior tongue-like deformities.
A spondylometaphyseal dysplasia characterized by oval vertebral bodies with wide, bracket-shaped metaphyses and small, round epiphyses without anterior tonguing of the vertebral bodies.
spondylometaphyseal dysplasia East African type
A spondylometaphyseal dysplasia characterized by spondylometaphyseal dysplasia and corneal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PLCB3 on chromosome 11q13.1.
spondylometaphyseal dysplasia with corneal dystrophy
A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in PAM16 on chromosome 16p13.3.
Megarbane-Dagher-Melike type chondrodysplasia
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
A spondylometaphyseal dysplasia characterized by short stature, hyperlordosis, bowed legs, shortening and bowing of the forearms, abnormal face, and radiographic changes characteristic of spondylometaphyseal dysplasia.
SMD with bowed forearms and facial dysmorphism
spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism
An endocrine pancreas disease characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and increased serum glucagon levels that has_material_basis_in homozygous or compound heterozygous inactivating mutation of GCGR on chromosome 17q25.3.
nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor
An amino acid metabolic disorder characterized by increased concentrations of sarcosine in plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in SARDH on chromosome 9q34.2.
sarcosine dehydrogenase complex deficiency
An endocrine system disease characterized by early activation of the hypothalamic-pituitary-gonadal axis resulting in development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys.
gonadotropin-dependant precocious puberty
A central precocious puberty that has_material_basis_in heterozygous mutation on the paternal allele of MKRN3 chromosome 15q11.2.
A central precocious puberty that has_material_basis_in heterozygous mutation in KISS1R on chromosome 19p13.
A spermatogenic failure characterized by male infertility caused by a majority of spermatozoa lacking heads.
male infertility due to acephalic spermatozoa
A spermatogenic failure characterized by male infertility caused by the majority of spermatozoa having round heads and acrosome defects.
A brain disease characterized by abnormalities in the small blood vessels in the brain.
A brain small vessel disease characterized by disturbed vascular supply to the brain leading to cerebral degeneration, porencephaly, and hemiplegia, seizures, and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in COL4A2 on chromosome 13q34.
A brain small vessel disease characterized by impaired basement membrane morphology resulting in increased fragility of cerebral blood vessels and an increased risk of intracranial bleeds of variable severity that has_material_basis_in homozygous or compound heterozygous mutation in COLGALT1 on chromosome 19p13.11.
A disorder of sexual development characterized by severely reduced 17,20-lyase activity of CYP17A1, sex steroid deficiency with no deficiency in glucocorticoid and mineralocorticoid reserves, absent or disturbed pubertal development, and mild to severe methemoglobinemia that has_material_basis_in homozygous or compound heterozygous mutation in CYB5A on chromosome 18q22.3.
methemoglobinemia due to deficiency of cytochrome b5
methemoglobinemia and ambiguous genitalia
A lysosomal storage disease that has_material_basis_in homozygous or compound heterozygous mutation in NAGA on chromosome 22q13.2.
alpha-N-acetylgalactosaminidase deficiency
A Schindler disease characterized by infantile onset of neuroaxonal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in NAGA on chromosome 22q13.2.
alpha-N-acetylgalactosaminidase deficiency type 1
A Schindler disease characterized by adult-onset of angiokeratoma corporis diffusum and mild intellectual impairment that has_material_basis_in homozygous mutation in the gene encoding alpha-N-galactosaminidase (NAGA) on chromosome 22q13.
adult-onset alpha-N-acetylgalactosaminidase deficiency
alpha-N-acetylgalactosaminidase deficiency type 2
A Schindler disease characterized by mild to moderate neurologic manifestations with onset after infancy but earlier than in Schindler disease type 3 that has_material_basis_in homozygous or compound heterozygous mutation in NAGA on chromosome 22q13.2.
alpha-N-acetylgalactosaminidase deficiency type 3
A congenital disorder of glycosylation characterized by onset in infancy of alacrima, achalasia, and impaired intellectual development without adrenal insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in GMPPA on chromosome 2q35.
alacrima, achalasia, and mental retardation syndrome
alacrima, achalasia, and impaired intellectual development syndrome
A pontocerebellar hypoplasia characterized by spinal cord anterior horn cell degeneration combined with pontocerebellar hypoplasia.
pontocerebellar hypoplasia with anterior horn cell disease
pontocerebellar hypoplasia with infantile spinal muscular atrophy
A pontocerebellar hypoplasia type 1 characterized by severe hypotonia and motor neuronopathy detectable at birth or in infancy that has_material_basis_in homozygous or compound heterozygous mutation in EXOSC9 on chromosome 4q27.
A pontocerebellar hypoplasia characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in TBC1D23 on chromosome 3q12.1-q12.2.
A pontocerebellar hypoplasia characterized by congenital onset of progressive microcephaly, poor or absent psychomotor development, and severely impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in PPIL1 on chromosome 6p21.2.
A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in CDC40 on chromosome 6q21.
A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in COASY on chromosome 17q21.2.
COASY-related pontocerebellar hypoplasia
A pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy.
A pontocerebellar hypoplasia type 2 characterized by progressive microcephaly and variable neurologic signs and symptoms that has_material_basis_in homozygous or compound heterozygous mutation in TSEN15 on chromosome 1q25.3.
A pontocerebellar hypoplasia type 1 characterized by onset shortly after birth of severe hypotonia and respiratory insufficiency with most patients dying within a weeks of birth that has_material_basis_in homozygous or compound heterozygous mutation in SLC25A46 on chromosome 5q22.1.
A pontocerebellar hypoplasia type 1 characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in EXOSC1 on chromosome 10q24.1.
A pontocerebellar hypoplasia characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem that has_material_basis_in homozygous or compound heterozygous mutation in VPS51 on chromosome 11q13.1.
A pontocerebellar hypoplasia characterized by hypotonia and severe global developmental delay apparent from early infancy that has_material_basis_in homozygous or compound heterozygous mutation in MINPP1 on chromosome 10q23.2.
A pontocerebellar hypoplasia type 1 characterized by severe muscle weakness and failure to thrive apparent in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in EXOSC8 on chromosome 13q13.3.
A spermatogenic failure characterized by male infertility due to oligoteratoasthenozoospermia, with markedly reduced sperm counts and severely reduced or absent sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in CATIP on chromosome 2q35.
A spermatogenic failure characterized by male infertility due to multiple morphologic abnormalities of the flagella with severely reduced sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in DNAH10 on chromosome 12q24.31.
A spermatogenic failure characterized by male infertility due to asthenozoospermia, with severely reduced sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in SPAG17 on chromosome 1p12.
A spermatogenic failure characterized by male infertility due to error-prone meiosis of germ cells and spermatogenic arrest at the late pachytene stage that has_material_basis_in homozygous or compound heterozygous mutation in PNLDC1 on chromosome 6q25.3.
A syndromic intellectual disability characterized by tall stature, a distinctive facial appearance, and impaired intellectual development that has_material_basis_in heterozygous mutation in DNMT3A on chromosome 2p23.3.
A craniodiaphyseal dysplasia characterized by childhood-onset short stature in association with macrocephaly, dolichocephaly, or prominent forehead that has_material_basis_in homozygous or compound heterozygous mutation in TMEM53 on chromosome 1p34.1.
A hereditary spastic paraplegia characterized by juvenile-onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs that has_material_basis_in heterozygous mutation in UBAP1 on chromosome 9p13.3.
spastic paraplegia 80 autosomal dominant
A hereditary spastic paraplegia characterized by early childhood onset of global developmental delay and early-onset progressive spasticity mainly affecting the lower limbs but also affecting the upper lmbs that has_material_basis_in homozygous or compound heterozygous mutation in ABHD16A on chromosome 6p21.33.
spastic paraplegia 86 autosomal recessive
A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in PCYT2 on chromosome 17q25.3.
spastic paraplegia 82 autosomal recessive
A hereditary spastic paraplegia characterized by onset of spastic paraplegia and optic atrophy in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in UCHL1 on chromosome 4p13.
early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
spastic paraplegia 79 autosomal recessive
A hereditary spastic paraplegia characterized by onset of motor symptoms (e.g. spasticity and hyperreflexia of the lower limbs) in the first few years of life that has_material_basis_in homozygous or compound heterozygous mutation in RNF170 on chromosome 8p11.21.
spastic paraplegia 85 autosomal recessive
A hereditary spastic paraplegia characterized by progressive lower limb spasticity resulting in gait instability that has_material_basis_in homozygous or compound heterozygous mutation in HPDL on chromosome 1p34.1.
spastic paraplegia 83 autosomal recessive
A hereditary spastic paraplegia characterized by onset in the first 2 decades of life of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in PI4KA on chromosome 22q11.21.
spastic paraplegia 84 autosomal recessive
A hereditary spastic paraplegia characterized predominantly by spasticity and muscle weakness of the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in ATP13A2 on chromosome 1p36.13.
spastic paraplegia 78 autosomal recessive
A hereditary spastic paraplegia characterized by onset in infancy, delayed motor development, progressive spasticity, and other neurologic impairments that has_material_basis_in homozygous or compound heterozygous mutation in SELENOI on chromosome 2p23.3.
autosomal recessive complex SPG due to Kennedy pathway dysfunction
autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
spastic paraplegia 81 autosomal recessive
A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia with complete meiotic arrest at the primary spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in STAG3 on chromosome 7q22.1.
A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia with complete metaphase arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in RNF212 on chromosome 4p16.3.
A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella and immotile or severely reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in IFT74 on chromosome 9p21.2.
A spermatogenic failure characterized by male infertility due to oligoasthenoteratozoospermia or nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in FBXO43 on chromosome 8q22.2.
A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with severely reduced or absent progressive sperm motillity and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in DHND1 on chromosome 11p15.4.
A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in TERB1 on chromosome 16q22.1.
A spermatogenic failure characterized by male infertility due to severe oligozoospermia with markedly reduced progressive sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in RPL10L on chromosome 14q21.2.
A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in TERB2 on chromosome 15q21.1.
A syndrome characterized by reduced growth, thin and short long bones, distinctive facial dysmorphism, dental and skeletal abnormalities, and absence of developmental delay or intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in SCUBE3 on chromosome 6p21.31.
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
A syndrome characterized by variable congenital anomalies of the kidney and urinary tract and variable presentation of ear abnormalities, hearing loss, and global developmental delay that has_material_basis_in heterozygous mutation in PBX1 on chromosome 1q23.3 or deletion of a genomic region that includes PBX1.
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in RIPPLY2 on chromosome 6q14.2.
autosomal recessive spondylocostal dysostosis 6
A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in LFNG on chromosome 7p22.3.
autosomal recessive spondylocostal dysostosis 3
A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in MESP2 on chromosome 15q26.1.
autosomal recessive spondylocostal dysostosis 2
A spondylocostal dysostosis that has_material_basis_in heterozygous, homozygous, or compund heterozygous mutation in TBX6 on chromosome 16p11.2.
A spondylocostal dysostosis that has_material_basis_in heterozygous or compound homozygous mutation in HES7 on chromosome 17p13.1.
autosomal recessive spondylocostal dysostosis 4
A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in DLL3 on chromosome 19q13.2.
autosomal recessive spondylocostal dysostosis 1
A Coffin-Siris syndrome characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities and variable occurence of other dysmophic features that has_material_basis_in heterozygous mutation in SMARCC2 on chromosome 12q13.
A Coffin-Siris syndrome characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit that has_material_basis_in heterozygous mutation in SMARCE1 on chromosome 17q21.2.
A Coffin-Siris syndrome characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails that has_material_basis_in heterozygous mutation in DPF2 on chromosome 11q13.1.
A Coffin-Siris syndrome characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity that has_material_basis_in heterozygous mutation in BICRA on chromosome 19q13.33.
A Coffin-Siris syndrome characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature that has_material_basis_in heterozygous mutation in SOX4 on chromosome 6p22.3.
A Coffin-Siris syndrome characterized by global developmental delay and impaired intellectual development associated with hypotonia, feeding difficulties, and variable dysmorphic features that has_material_basis_in heterozygous mutation in SMARCD1 on chromosome 12q13.12.
An autosomal dominant nonsyndromic deafness characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound, preservation of outer hair cell function and abnormal or absent auditory brainstem responses and that has_material_basis_in heterozygous mutation in TMEM43 on chromosome 3p25.1.
autosomal dominant auditory neuropathy 3
A congenital muscular dystrophy characterized by muscular dystrophy resulting from defective glycosylation of dystroglycan.
congenital muscular dystrophy due to dystroglycanopathy
A muscular dystrophy-dystroglycanopathy characterized by early onset of muscle weakness, intellectual disability in most cases, and variable presence of mild brain anomalies.
muscular dystrophy-dystroglycanopathy type B
A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in DPM3 on chromosome 1q22.
congenital muscular dystrophy DPM3-related
muscular dystrophy-dystroglycanopathy type B15
A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in GMPPB on chromosome 3p21.31.
congenital muscular dystrophy GMPPB-related
muscular dystrophy-dystroglycanopathy type B14
A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on chromosome 1p34.1.
congenital muscular dystrophy POMGNT1-related
muscular dystrophy-dystroglycanopathy type B3
A muscular dystrophy-dystroglycanopathy type B characteried by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in FKTN on chromosome 9q31.2.
congenital muscular dystrophy FKTN-related
muscular dystrophy-dystroglycanopathy type B4
A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on chromosome 14q24.3.
congenital muscular dystrophy POMT2-related
muscular dystrophy-dystroglycanopathy type B2
A muscular dystrophy-dystroglycanopathy characterized by limb-girdle congenital muscular dystrophy and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in POMK on chromosome 8p11.21.
Limb-girdle muscular dystrophy due to POMK deficiency
muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related
muscular dystrophy-dystroglycanopathy type C12
A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on chromosome 3p22.1.
autosomal recessive limb-girdle muscular dystrophy 24
muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8
muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related
muscular dystrophy-dystroglycanopathy type C8
A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has_material_basis_in heterozygous mutation in AFF3 on chromosome 2q11.2.
Steichen-Gersdorf type mesomelic dysplasia
A motor neuron disease that has_material_basis_in some inheritance and affects muscle, bone, and the nervous system.
multisystem proteinopathy
An intestinal disease that involves intestinal infection that has_material_basis_in viruses, bacteria, fungi and parasites.
bacterial enteritis
An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.
High Frequency Hearing Loss
High frequency deafness
Perceptive deafness
Perceptive hearing loss
Perceptive hearing loss or deafness
Sensorineural Deafness
Sensory hearing loss
central hearing loss
high-frequency hearing loss
A thyroid gland cancer that has_material_basis_in lymphocytes.
A multiple endocrine neoplasia characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities.
MEN type IIB
MEN2B
Multiple endocrine neoplasia, type 3
Wagenmann-Froboese syndrome
mucosal neuroma syndrome
A multiple endocrine neoplasia that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas.
MEN type I
Wermer syndrome
Wermer's syndrome
An endometrial disease that is characterized by inflammation of the endometrium.
A duodenum cancer that is located_in the ampulla of Vater.
malignant tumour of ampulla of vater
A small intestine cancer that is located_in the beginning section of the small intestine.
Duodenal cancer
cancer of duodenum
duodenal neoplasm
A duodenal benign neoplasm that is located_in the ampulla of Vater.
tumor of the ampulla of Vater
A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon.
classic migraine
A tertiary neurosyphilis that results in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has symptom intense, stabbing pain in the back and legs that recurs irregularly, has symptom gait ataxia, has symptom hyperesthesia, has symptom paresthesia, has symptom loss of bladder sensation leading to urine retention, has symptom erectile dysfunction.
Posterior spinal sclerosis
Tabes dorsalis - neurosyphilis
A female reproductive system disease that is characterized by an infection of the female reproductive organs.
PID
A pulmonary emphysema that is characterized by the abnormal location of gas within the pulmonary interstitium and lymphatics usually due to positive pressure ventilation.
A pulmonary emphysema that is characterized by overinflation of part of a lung in response to either removal by surgery of another part of the lung or deceased size of another part of the lung.
A lung disease that is characterized by increased lucency compared to the other lung on a chest radiograph or CT.
An eye accommodation disease that is characterized by paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation.
Ciliary muscle paresis
Cycloplegic paralysis of accommodation
Paresis of accommodation
An eye disease that is characterized by decreased ability to change the optical power of the eye to maintain a clear image.
A tertiary neurosyphilis that results_in mild meningitis.
A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities.
juvenile neurosyphilis
A skin melanoma that arises from the upper or lower eyelid.
A syndrome that is characterized by the presence of multiple dysplastic nevi (atypical moles) and a history of melanoma in two family members.
FAMM syndrome
familial atypical multiple mole-melanoma
A skin melanoma that is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm.
A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule.
nodular melanoma
A uterine disease that is located_in the endometrium.
A skin melanoma that is characterized by a lack of melanin pigment in most of the melanoma tumor cells.
skin amelanotic malignant melanoma
A laryngeal benign neoplasm that is located_in the subglottic area of the larynx.
Subglottic tumor
A laryngeal benign neoplasm that derives_from smooth muscle cells.
A laryngeal benign neoplasm that is characterized by the presence of a connective tissue core covered by stratified squamous epithelium and that has_symptom hoarseness.
A bacterial meningitis that is characterized by inflammation of the tissues covering the brain and spinal cord.
A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness.
Hymenolepis infectious disease
dwarf tapeworm infection
A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia.
Diphyllobothrium infection
fish tapeworm
A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions.
Pork tapeworm infection
Tapeworm infection intestinal taenia solum
Tapeworm infection pork
intestinal taenia solium infection
neurocysticercosis
tenia solium infectious disease
A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected.
Infection by Sparganum
An encephalitis that has_material_basis_in central neural system infection by Treponema pallidum.
A gastrointestinal system benign neoplasm that is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
leiomyoma of the stomach
A central nervous system disease that is located_in the skull and is characterized by a collection of pus (infected material) inside the skull.
A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances.
African sleeping sickness
African trypanosomiasis
A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans.
An eyelid disease that is characterized by dark eyelids.
dyspigmentation of eyelid
A skin disease that is characterized by discoloration of the skin.
An eye disease that affects the cornea, which is the transparent surface of the eye that assists in light refraction.
A keratoconus that is characterized by stromal edema due to leakage of aqueous humor through a tear in Descemet's membrane.
Keratoconus, acute hydrops
A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.
conical cornea
A cerebrovascular disease that is characterized by blockage in one or more of the cerebral arteries.
A vein disease that is characterized by impaired flow of blood through the veins.
peripheral venous insufficiency
A psychosexual disorder that is characterized by involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause.
Functional vaginismus
Non-organic vaginismus
Psychogenic Vaginismus
A sexual disorder that is characterized as a sexual problem that is psychological, rather than physiological in origin.
A dry eye syndrome that is characterized by conjunctival and corneal xerosis, Bitot's spots, keratomalacia, nyctalopia, and retinopathy resulting from vitamin A deficiency.
Conjunctival xerosis
A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface.
Tear film insufficiency
A thymus cancer that arises from the thymus.
A bone cancer that is manifested in the long bones of the lower limb.
malignant neoplasm of long bones of leg
A bone cancer that is located in the short bones of lower limbs.
malignant neoplasm of short bone of lower limb
malignant neoplasm of short bones of leg
malignant neoplasm of short bones of lower limb
An ileum cancer originating from Meckel's diverticulum.
Meckel diverticulum cancer
malignant neoplasm of Meckel's diverticulum
A small intestine cancer that is located_in the ileum.
ileal neoplasm
malignant neoplasm of ileum
An intestinal cancer that is located_in the small intestine.
A gastrointestinal system cancer that is located_in the intestine.
malignant intestinal tumors
malignant neoplasm of intestine
A small intestine benign neoplasm that affects the wall of the ileum.
Ileal tumor
NCI and MESH IDs are for both malignant and benign forms, removed from this record.[LS]
An ischemic bone disease that results_in necrosis located_in bone.
Avascular necrosis of bone
aseptic necrosis
bone necrosis
Granuloma of lacrimal passages
An optic neuritis that is characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins resulting in swelling around the optic disc.
papillitis
An eye disease that is characterized by inflammation of the retina.
Focal retinitis and retinochoroiditis, juxtapapillary
Juxtapapillary focal retinitis AND retinochoroiditis
Papilloretinitis
A lipoma that is located within the lumen of a bronchus.
A lipoma that is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men.
Lipoma of esophagus
A skin benign neoplasm that derives_from fat cells.
Cutaneous Lipoma
Lipoma of skin
cutaneous lipomatous tumor
lipoma of face
A bone inflammation disease that has_material_basis_in infection located_in bone or located_in bone marrow.
Lipoma of the Liver
A lipoma that is characterized by floret giant cells with overlapping nuclei.
A lipoma that is characterized as a benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones.
Lipoma of kidney
A respiratory system benign neoplasm that derives_from fat cells and is located_in the pleura.
Lipoma of Pleura
A breast benign neoplasm that is composed of lipocytes.
Lipoma of breast
A thoracic benign neoplasm that derives_from fat cells and is located_in the chest wall.
Lipoma of the Chest Wall
A gallbladder benign neoplasm that is located_in the gallbladder and derives_from fat cells.
Lipoma of the gallbladder
An auditory system benign neoplasm that is located in the external ear.
Lipoma of external auditory meatus
Lipoma of the External ear
An thoracic benign neoplasm that is located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue.
Lipoma of axilla
A paratesticular lipoma that is located_in the spermatic cord and derives_from fat cells.
Spermatic Cord Lipoma
A reproductive organ benign neoplasm that derives_from fat cells located_in the paratesticular region.
A lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women.
A biliary tract benign neoplasm that is located_in the extrahepatic bile duct and derives_from fat cells.
Lipoma of the extrahepatic bile duct
A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Treponema carateum, which is transmitted_by contact with skin and mucous membrane of an infected person. The infection has_symptom pruritic plaque, which slowly enlarges and becomes pigmented and hyperkeratotic.
A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction.
Polymyositis with skin involvement
dermatopolymyositis
Amyopathic dermatomyositis
MESH:C538250 added from NeuroDevNet [WAK].
A leprosy that results in small numerous red irregularly shaped plaques.
Borderline or dimorphous leprosy
Midborderline leprosy
Atherosclerosis of aorta
Histoplasmosis with pericarditis
A mechanical strabismus that is characterized by impairment of eye movements.
A paraphilia disorder that is characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger.
A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage.
A hemolytic anemia characterized by decreased synthesis of one or more hemoglobin polypeptide chains.
Sickle-cell thalassemia with crisis
Sickle-cell thalassemia without crisis
thalassemia Hb-S disease with crisis
thalassemia Hb-S disease without crisis
A primary bacterial infectious disease that results in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone star tick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash.
human ehrlichiosis
A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs.
A leprosy that results in one erythematous large plaque with well-defined borders that are elevated and that slope down into an atrophic center.
Smooth leprosy
type T leprosy
A viral infectious disease that results in infection in sheep and rarely humans, has_material_basis_in Louping ill virus, which is transmitted by sheep tick, Ixodes ricinus. The infection has symptom lethargy, has symptom muscle pains, has symptom fever, and has symptom focal neurological signs.
Cholesterolosis of gallbladder
An auditory system disease that is characterized by the discharge or drainage of fluid from the ear.
A viral infectious disease that results in inflammation located in salivary gland, has_material_basis_in Mumps rubulavirus, which is transmitted by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted by contaminated fomites. The infection has symptom fever, has symptom headache, has symptom muscle aches, has symptom tiredness, has symptom loss of appetite, has symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face.
subendocardial infarction acute myocardial infarction
Left bundle branch block
A cardiovascular system disease that involves the heart's electrical conduction system.
heart rhythm disease
A male reproductive organ cancer that is located_in the prostate.
NGP - new growth of prostate
hereditary prostate cancer
malignant tumor of the prostate
prostate cancer, familial
prostate neoplasm
prostatic cancer
prostatic neoplasm
tumor of the prostate
A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
cancer of prostate
carcinoma of prostate
A squamous cell carcinoma that is located_in the prostate.
A prostate cancer that is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia and that arises from the prostate gland.
malignant Phyllodes neoplasm of the prostate
A metal metabolism disorder that is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally, and that are caused by mutations in genes involved in the sodium and calcium channels in nerve cells.
A prostate cancer that affects lymphocytes and arises from the prostate gland.
lymphoma of prostate
An esotropia that is characterized by an excessive convergence of the visual axes, resulting in a cross-eye appearance.
A peripheral vascular disease that is characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or cyanosis in response to cold exposure or stress.
Raynaud's disease
Raynaud's syndrome
A parotid disease characterized by the inflammation of one or both parotid glands.
A salivary gland disease that is located in the parotid gland.
A salivary gland disease that is characterized as an infection of the salivary glands.
Sialoadenitis
A meningitis that has_material_basis_in a viral infection.
A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves.
An interstitial lung disease that is caused by the inhalation of dust.
A pneumoconiosis caused by the inhalation of mixed mineral dust particles.
A pneumoconiosis caused by inhalation and retention of asbestos fibers.
A pneumoconiosis that is characterized by the formation of fine dense lesions in the lung parenchyma, caused by long standing exposure to barium dust. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops.
A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds.
beryllium poisoning
A pneumoconiosis that is characterized by hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp, and has symptoms of chest tightness, cough and wheezing.
Flax-dressers' disease
Stripper's asthma
cotton mill fever
A pneumoconiosis that is characterized by fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath and induces fibrous nodule formation in the lung.
A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles.
Pneumoconiosis due to silicates
Silica pneumoconiosis
Silicotic fibrosis of lung
silicotuberculosis
A pneumoconiosis that results_in humans that also have rheumatoid arthritis.
Caplan syndrome
Caplan's disease
Caplans syndrome
Rheumatoid pneumoconiosis
A pneumoconiosis that is characterized by deposition of carbon or coal dust in the lung parenchyma leading to the formation of black nodules and emphysema.
Coal Miner's Pneumoconiosis
Coal workers' lung
Coal workers' pneumoconiosis
Melanoedema
black lung
A pneumoconiosis that is characterized by the deposition of excess iron in body tissue resulting from inhalation of iron in the mining dust or welding fumes.
pulmonary siderosis
A pneumoconiosis that is characterized by fibrosis and granulomatous changes in the lung parenchyma and resulting from exposure to talc.
pneumoconiosis due to talc
talc pneumoconiosis
talcosis
A pneumoconiosis that is caused by exposure to slate dust.
Schistosis
A pneumoconiosis that is caused by inhalation of kaolin dust.
Kaolinosis
An optic atrophy that is characterized by optic nerve damage with increased optic cup to disc ratio secondary to glaucoma, which is an eye disease related to abnormal aqueous fluid outflow that inappropriately raises intraocular pressure and results in optic nerve atrophy with progressive visual field loss. Glaucomatous atrophy of optic disc can be caused by any form of glaucoma.
Glaucomatous atrophy [cupping] of optic disc
An eyelid disease that is characterized by abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids.
A breast cyst that is characterized by single, fluid-filled cyst in the breast parenchyma.
Solitary Cyst of the breast
A leukemia that is characterized by the systemic proliferation of NK cells closely associated with Epstein-Barr virus and that is located_in the peripheral blood, bone marrow, liver, and spleen.
aggressive NK-cell leukaemia
large granular Lymphocyte Leukemia, NK-cell type
natural killer cell leukaemia
natural killer cell leukemia
A breast benign neoplasm that is characterized by a fluid-filled sac.
Cyst of the breast
A breast benign neoplasm that has_material_basis_in fibrous tissue and epithelial tissue in which tumor cells form glands or glandlike structures.
Fibroadenosis - breast
Fibroadenosis of breast
A non-proliferative fibrocystic change of the breast that contains scar tissue.
Fibrosis of the breast
A breast benign neoplasm that has_material_basis_in fibrous tissue and is characterized by the development of cystic spaces.
Diffuse cystic mastopathy
Fibrocystic disease of breast
breast Fibrocystic Change
CLL
CML
adult chronic leukemia
A chronic meningitis that is characterized by the presence of 10 or more eosinophils/microL in the cerebrospinal fluid (CSF) or a CSF eosinophilia of at least 10 percent. Symptoms of this condition range from mild headache to severe, throbbing headache, dizziness, nausea, vomiting, fever, neck stiffness, paresthesia, and stabbing pain in the trunk and limbs aggravated by touch.
A male reproductive organ cancer that is located in the epididymis.
malignant Epididymal tumor
malignant neoplasm of epididymis
malignant tumor of epididymis
An epididymis cancer that derives_from epithelial cells of glandular origin.
adenocarcinoma of the epididymis
A leukemia that has_material_basis_in a B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood.
lymphoblastic leukaemia
lymphoblastic leukemia
lymphocytic leukaemia
A primary bacterial infectious disease that results in infection located in skin, located in joint or located in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted by direct skin contact with an infected person. The infection has symptom skin lesions.
Bouba
frambesia
frambesia tropica
frambosie
polypapilloma tropicum
thymosis
An amblyopia that is characterized by strabismus or eye misalignment. The brain begins to ignore the eye that is not straight and the vision subsequently drops in that eye.
An eye disease that is characterized by poor vision in one eye resulting from the brain failing to process inputs from one eye and over time favors the other eye. The weaker or lazy eye often wanders inward or outward.
An amblyopia that is characterized by refractive error in one or both eyes that is not corrected early in childhood resulting in poor development of the visual function in the affected eye(s).
An amblyopia that is characterized by a structural anomaly that impairs vision like a droopy eyelid or an opacity in the eye, such as a cataract or corneal scar.
A brachial plexus neuropathy that is characterized by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm, and that has_material_basis_in heterozygous mutation in the SEPT9 gene on chromosome 17q25.
neuralgic amyotrophy
A chronic lymphocytic leukemia that is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen.
Bamberger-Marie disease
HPOA - hypertrophic pulmonary osteoarthropathy
Marie Bamberger disease
hypertrophic pulmonary osteoarthropathy
A plague that results_in infection located_in lung, which results from direct inhalation of the bacillus and has_symptom fever, has_symptom chills, has_symptom cough and has_symptom difficulty breathing.
primary pneumonic plague
secondary pneumonic plague
Gonococcal seminal vesiculitis, chronic
A disease by infectious agent that results_in infection, has_material_basis_in Bacteria.
A lymphocytic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood.
B-cell chronic lymphocytic leukaemia
B-cell chronic lymphocytic leukemia
chronic lymphatic leukaemia
chronic lymphatic leukemia
chronic lymphocytic leukaemia
lymphoplasmacytic leukaemia
lymphoplasmacytic leukemia
B-cell chronic lymphoid leukemia
Gonorrhea of seminal vesicle
acute periodontitis
A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra.
Klippel-Feil and Turner syndrome
Klippel-Feil deformity, deafness and facial asymmetry
autosomal dominant Klippel-Feil syndrome
congenital dystrophia brevicollis
congenital synostosis of cervical vertebrae
Keratoconus, stable condition
A suppurative otitis media with sudden onset and a short course.
A corneal ulcer that is characterized by painful peripheral corneal ulceration, sterile limbal inflammation, and episcleral and conjunctival edema.
Mooren ulcer
A corneal ulcer that is characterized by ulceration of the cornea secondary to fungal infection and is caused by minor trauma and subsequent infection by mycotic organisms, such as candida, apergillus, fusarium, and rhizopus.
A corneal ulcer that is characterized by infiltrate formation in the marginal zone that is parallel but separated from the limbus.
A corneal ulcer that is characterized by a ring of infiltration and/or ulceration that forms on the cornea.
A corneal ulcer that has progressed and thinned the cornea such that the cornea ruptures, leaving a small hole that may drain or appear to contain pigment.
An upper respiratory tract disease which is characterized by inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat, painful or difficult swallowing, coughing, headache, myalgia, fever and chills.
Throat infection - tonsillitis
chronic tonsillitis
A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough.
Infection by Legionella pneumophilia
Legionella
Legionella pneumonia
Legionnaire's disease
A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea.
Legionella infection
An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus.
Acute viral rhinopharyngitis
Nasopharyngitis - acute
Nasopharyngitis, acute
acute coryza
acute nasopharyngitis
acute rhinitis
rhino-sinusitis
A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx.
chronic nasopharyngitis
Compound dental caries
Dental caries extending into dentine
Patellar tendonitis
A muscular disease that is located_in the diaphragm.
Congenital atresia of esophagus
Congenital imperforate esophagus
Imperforate esophagus
Oesophageal atresia
A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.
Hirschsprung disease
aganglionic megacolon
congenital megacolon
macrocolon
pelvirectal achalasia
total intestinal aganglionosis
Congenital atresia of anus
Congenital or infantile occlusion of anus
anal atresia
Adrenal Cortical Insufficiency
Corticoadrenal insufficiency
A pericarditis characterized by inflammation, occurring after injury, located_in pericardium.
Dressler syndrome
Postmyocardial infarction syndrome
An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes.
An otitis externa which is a microbial infection that occurs suddenly, rapidly worsens, and becomes very painful and alarming. It is caused by swimming in polluted water, scratching the ear or inside the ear and object stuck in the ear. It is occasionally associated with middle ear infection or upper respiratory infections such as colds.
Tank ear
acute bacterial inflammation of external ear
acute otitis externa, diffuse
acute swimmer's ear
acute swimmers' ear
A otomycosis which is persistent and long-lasting or recurrent.
chronic mycotic otitis externa
An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species.
A pterygium that is characterized by a fleshy outpouching of conjunctival growth that appears to have multiple heads or areas of bulk or origin and has_symptom multiple fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Double pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Double pterygiums progress from pinguecula.
A pterygium that is characterized by conjunctival degeneration, a fleshy outpouching of conjunctival growth and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Conjunctival pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Conjunctival pterygiums progress from pinguecula.
Web eye
A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus.
A gastrointestinal system cancer that is located_in the stomach.
gastric cancer
gastric neoplasm
malignant gastric granular cell tumour
malignant granular cell tumor of stomach
malignant granular cell tumour of stomach
A stomach cancer that is located_in the gastric fundus.
Ca fundus - stomach
malignant neoplasm of fundus of stomach
malignant tumor of fundus of stomach
Lymphoma of the stomach
Surface gastric cancer
early gastric cancer
Ca pylorus - stomach
malignant neoplasm of Prepylorus
malignant neoplasm of pylorus of stomach
malignant tumor of pylorus
malignant neoplasm of antrum of stomach
malignant tumor of pyloric antrum
Ca cardia - stomach
malignant neoplasm of cardia of stomach
A otosalpingitis with a sudden onset and a short course.
acute eustachian tube salpingitis
A central nervous system disease that involves encephalitis which occurs along with meningitis.
A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus.
antepartum maternal hypotension syndrome
postpartum maternal hypotension syndrome
A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney.
Lowe syndrome
lowe oculocerebrorenal syndrome
oculocerebrorenal syndrome of Lowe
A yaws that appears after five years of the initial infection and is characterized by disabling consequences of the nose, bones and palmar/plantar hyperkeratosis.
Gummata and ulcers due to yaws
Gummata of yaws
Ulcers of yaws
Yaws gummata and ulcers
gummatous frambeside
multiple papillomata due to yaws and wet crab yaws
nodular late yaws
A yaws that results in initial papule at the site of entry of bacteria. Without treatment, this is followed by disseminated skin lesions over the body. Bone pain and bone lesions may also occur.
Frambesia, initial or primary
Initial frambesial ulcer
Initial lesions of yaws
bone and joint lesions due to yaws
bone and joint yaws lesion
chancre of yaws
primary frambesia
A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone.
A cerebral degeneration characterized by dysfunction of the white matter of the brain.
A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.
MLD
Scholz cerebral sclerosis
arylsulfatase A deficiency
deficiency of cerebroside-sulfatase
sulfatide lipoidosis
A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues.
HMSN type IV
HSMN IV
Heredopathia atactica polyneuritiformis
Refsum's disease
A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.
pericentral pigmentary retinopathy
Diffuse globoid body sclerosis
GLOBOID CELL LEUKOENCEPHALOPATHY
Galactosylceramide beta-galactosidase deficiency
Krabbe's disease
Krabbe's leukodystrophy
beta galactocerebrosidase deficiency
globoid cell leukodystrophy
A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.
ALD
Bronze Schilder disease
Encephalitis periaxialis concentrica
Encephalitis periaxialis, Schilder's
Siemerling-Creutzfeldt Disease
X-linked adrenoleukodystrophy
diffuse sclerosis
sudanophilic cerebral sclerosis
MESH:D000326w added from NeuroDevNet [WAK].
A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
mental retardation
OMIM mapping submitted by NeuroDevNet. [LS].
A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation.
A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.
gestational hypertension
hypertension induced by pregnancy
pre-eclamptic toxaemia
preeclampsia
preeclampsia/eclampsia
pregnancy associated hypertension
pregnancy toxemia
proteinuric hypertension of pregnancy
toxaemia of pregnancy
A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.
CMT - Charcot-Marie-Tooth disease
An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac.
Pearly disease
Tuberculosis of pleura
Tuberculous pleurisy
Tuberculous pleuritis
tuberculous pleurisy in primary progressive tuberculosis
An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum.
Neutral 1 amino acid transport defect
deficiency of tryptophan oxygenase
neutral amino acid transport defect
A tic disorder that is characterized by single or multiple motor or phonic tics, but not both, which are present for more than a year.
chronic motor or vocal tic disorder
Glucose malabsorption
Malabsorption of glucose
A carbohydrate metabolic disorder that is characterized by the impaired ability to digest lactose.
LM - Lactose malabsorption
An intestinal disease that is characterized by a reduced ability to absorb nutrients due to the physical loss or the loss of function of a portion of the small and/or large intestine.
acquired short bowel syndrome
short gut syndrome
An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption.
Bacterial overgrowth syndrome
Sprue - tropical
Tropical steatorrhea
An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.
celiac sprue
coeliac disease
idiopathic steatorrhea
A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone.
active rickets
pancreatic steatorrhoea
Enteropathy, exudative
Exudative enteropathy
An urticaria that is characterized by erythematous papules and plaques, has_symptom pruritis, and has_material_basis_in allergic reaction.
An acute cervicitis that is caused by gonorrhea.
Gonococcal cervicitis
acute gonorrhea of cervix
A cervicitis that is characterized by onset within the past 1 - 3 days.
A lymphatic system cancer that is located_in the lymph node.
lymph node neoplasm
A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.
Congenital Fanconi syndrome
De Toni-Fanconi syndrome
Fanconi-de Toni syndrome
Fanconi-de-Toni syndrome
Infantile nephropathic cystinosis
Lignac-Fanconi syndrome
adult Fanconi Anemia
adult Fanconi syndrome
deToni Fanconi syndrome
An eye disease where one or both eyeballs are abnormally small.
microphthalmos
simple microphthalmos
renal tubulo-interstitial disease
A syndrome that is characterized by diabetes mellitus, optic atrophy, and deafness.
A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17.
cystine storage disease
A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs.
acute inferolateral myocardial infarction
acute anterolateral myocardial infarction
A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.
Alzheimer disease
Alzheimers dementia
Colonic Lipoma
Colonic leiomyoma
Lymphangioma of colon
Open-angle glaucoma residual stage
A malignant mediastinal neurogenic neoplasm that has_material_basis_in immature nerve cells.
neuroblastoma of mediastinum
Ganglioneuroblastoma of mediastinum
A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.
Wide-angle glaucoma
glaucoma simplex
open angle glaucoma
pigmentary glaucoma
A primary open angle glaucoma early age of onset, rapidly progressive with more severely elevated and fluctuating intraocular pressures.
Glaucoma of childhood
An anxiety disorder that involves the feeling of excessive and inappropriate levels of anxiety over being separated from a person to whom the individual has a strong emotional attachment or place.
A breast cyst that develops during or shortly after lactation and is characterized by retention of milk or a milky substance that is usually located_in the mammary glands.
Galactocele
A breast disease that is characterized by the progressive, excessive enlargement of breast connective tissue.
breasts enlarged
large breast
A breast disease characterized by painful infection of the breast tissue.
Inflammatory breast disease
Inflammatory disease of breast
breast inflammation
A breast disease that is characterized by the death of breast adipocytes, usually secondary to injury.
breast Fat necrosis
A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected.
Infection by Paragonimus
lung fluke disease
lung fluke infection
pulmonary paragonimiasis
An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.
chronic simple glaucoma
A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting.
Infection by Giardia lamblia
beaver feaver
A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.
renal failure
A uterine adnexa cancer that is located_in the broad ligament.
malignant neoplasm of broad ligament of uterus
A otitis which involves inflammation of the middle ear.
An osteomyelitis that has_material_basis_in infection located_in petrous part of temporal bone.
acute petrositis
chronic petrositis
inflammation of petrous bone
An artery disease characterized by chronic elevated blood pressure in the arteries.
HTN
hyperpiesia
vascular hypertensive disorder
hypertensive disease
Moschcowitz's syndrome
A plague that results_in infection located_in lymph node producing a bubo, which is an inflamed, necrotic, and hemorrhagic lymphoid tissue. The infection has_symptom enlarged, tender lymph nodes, has_symptom fever, has_symptom chills and has_symptom prostration.
black death
Idiopathic myocarditis
Isolated (Fiedler's) myocarditis
fiedler myocarditis
An acute myocarditis that is characterized by an underlying infectious insult to the myocardium that induces acute inflammation.
A polycythemia that has_material_basis_in factors intrinsic to red cell precursors.
Familiar Polycythemia
familial erythrocytosis
Mesenteric adenitis
A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy.
Australian tick typhus
Rickettsia australis spotted fever
North Queensland tick typhus
An ovarian dysfunction that is the loss of normal ovarian function before age 40.
Menopause - premature
Menopause praecox
A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria.
Infectious Disease by Setaria
A frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage.
A sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead.
A maxillary sinusitis which lasts for 12 weeks or more.
chronic antritis
A sphenoid sinusitis which lasts for 12 weeks or more.
Sphenoidal sinus-chr.
A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head.
Sphenoidal sinusitis
A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea.
disease due to superfamily Filarioidea
Gonococcal epididymo-orchitis
acute gastric ulcer with haemorrhage and perforation
acute gastric ulcer with hemorrhage AND with perforation but without obstruction
acute gastric ulcer with hemorrhage and obstruction
acute gastric ulcer with hemorrhage and perforation
acute gastric ulcer with hemorrhage and perforation, with obstruction
acute gastric ulcer with hemorrhage and perforation, without mention of obstruction
acute gastric ulcer with hemorrhage, with obstruction
acute gastric ulcer with hemorrhage, with perforation AND with obstruction
acute gastric ulcer with perforation
acute gastric ulcer with perforation AND obstruction
acute gastric ulcer with perforation, with obstruction
acute gastric ulcer without hemorrhage and without perforation
acute gastric ulcer without hemorrhage, without perforation AND without obstruction
acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction
bleeding acute gastric ulcer
chronic gastric ulcer without hemorrhage AND without perforation
chronic gastric ulcer without hemorrhage AND without perforation but with obstruction
chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction
A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies.
A respiratory system cancer that is located_in the nasal cavity.
malignant neoplasm of nasal cavities
malignant tumor of the nasal cavity
Olfactory neuroblastoma of the nasal cavity
Lymphoma of the nasal cavity
lymphoma of nasal cavity
A duodenum cancer that derives_from epithelial cells of glandular origin.
Duodenal adenocarcinoma
A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions.
Dirofilaria infectious disease
Infection by Dirofilaria
Accelerated essential hypertension
A hypertension that is characterized by rapid onset of extremely high blood pressure.
A hypertension with no known cause. It is the most common type of hypertension.
idiopathic hypertension
primary hypertension
A viral infectious disease that results in inflammation located in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted by Aedes, transmitted by Coquillettidia, and transmitted by Culex species of mosquitoes. The infection has symptom sudden onset of headache, has symptom high fever, has symptom chills, has symptom vomiting, has symptom disorientation, has symptom seizures, and has symptom coma.
Neuroinvasive Eastern equine encephalitis virus infection
EEE
A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Murray Valley encephalitis virus, which is transmitted_by Culex annulirostris mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom drowsiness, has_symptom confusion, has_symptom fitting, and has_symptom weakness.
Australian X disease
Australian encephalitis
A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus, which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness.
WEE
A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis.
Japanese B encephalitis
A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis.
Neuroinvasive St. Louis encephalitis virus infection
A chromosomal duplciation syndrome that is characterized by slow growth before birth and a low birth weight and that has_material_basis_in three copies of chromosome 18.
Complete trisomy 18 syndrome
E3 Trisomy
trisomy 18
A otitis media which is an expansile, inflammatory mass of granulation tissue in the middle ear. It is a foreign body reaction to cholesterol deposits that occur in obstructed fluid-filled air cells of the temporal bone. It is present with a conductive hearing loss and a blue eardrum.
Cholesterin granuloma
Cholesterin granuloma of middle ear
A mouth disease located_in the salivary gland.
Non-neoplastic Salivary gland disease
Incomitant dissociation
Paralytic strabismus
Partial third nerve palsy
Third nerve palsy with pupil sparing
Third or oculomotor nerve palsy, partial
A cranial nerve palsy characterized by lateral rectus muscle weakness resulting from damage to the abducens (sixth cranial) nerve.
Abducens nerve weakness
Lateral rectus muscle denervation paresis
Lateral rectus muscle innervation disorder
Sixth cranial nerve disorder
Sixth nerve palsy
VIth nerve Paralysis
VIth nerve disorder
abducens nerve disease
abducens palsy
Third nerve palsy with pupil involved
Third or oculomotor nerve palsy, total
Total third nerve palsy
Fourth nerve palsy
Fourth or trochlear nerve palsy
A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision.
Age Related Maculopathies
Age Related Maculopathy
Senile macular degeneration
Senile macular retinal degeneration
age-related macular degeneration
Exudative senile macular degeneration of retina
Neovascular age-related macular degeneration
Senile macular degeneration, wet
Wet senile macular retinal degeneration
A spina bifida that is characterized by herniation of the meninges between the vertebrae.
Phlebitis and thrombophlebitis of the iliac vein
A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet.
Vesicular stomatitis and exanthem
A viral infectious disease that results in necrosis located in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has symptom severe chest pain, has symptom fever, has symptom malaise, has symptom pleuritis, and has symptom headache.
Bamble disease
Bornholm disease
Epidemic pleurisy
Epidemic, myositis
devil's grip
epidemic myalgia
A viral infectious disease that results in infection located in mouth, has_material_basis_in Human coxsackievirus A16, Human enterovirus 71, group B coxsackievirus, or echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars.
Vesicular pharyngitis
A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas.
type L leprosy
spinal dysraphism
A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.
familial hypospadias
A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants.
Microcephalus
microencephaly
A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head.
hydrocephalus, X-linked
hydrocephalus, nonsyndromic, autosomal recessive
A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information.
Amnestic syndrome
Korsakoff's psychosis or syndrome
amnesia
A nutritional deficiency disease that is characterized by ophthalmoplegia, ataxia, change in mental status and acute onset of severe memory impairment without any dysfunction in intellectual abilities, and has_material_basis_in thiamine deficiency.
Korsakoff Syndrome
Korsakoff's psychosis
Korsakoff's syndrome
Korsakov psychosis
Korsakov's psychosis
The existing disease ontology entity 'Wernicke-Korsakoff syndrome' is considered to be a subclass of 'brain disease' in addition to 'thiamine deficiency disease', in the context of the NND.
A spotted fever that has_material_basis_in Rickettsia sibirica, which is transmitted_by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash.
North Asian tick fever
North Asian tick typhus
Rickettsia sibirica spotted fever
manchurian typhus
A blood protein disease that is characterized by low number of red blood cells, repeated infections, and periodic episodes of pain, resulting from atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape.
Hb SC disease
Hb-S/Hb-C disease
Hb-SS disease without crisis
Hemoglobin S disease without crisis
Sickle-cell/Hb-C disease without crisis
drepanocytosis
haemoglobin SC disease
hemoglobin SC disease
sickle cell anaemia
acute gastrojejunal ulcer with hemorrhage
acute gastrojejunal ulcer with hemorrhage AND obstruction
acute gastrojejunal ulcer with hemorrhage AND perforation
acute gastrojejunal ulcer with hemorrhage and perforation, with obstruction
acute gastrojejunal ulcer with hemorrhage, with perforation AND with obstruction
acute gastrojejunal ulcer with perforation
acute gastrojejunal ulcer with perforation AND obstruction
acute gastrojejunal ulcer with perforation, with obstruction
acute gastrojejunal ulcer without hemorrhage AND without perforation
acute gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction
acute gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction
acute gastrojejunal ulcer, with hemorrhage, with obstruction
chronic gastrojejunal ulcer without hemorrhage AND without perforation
chronic gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction
chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction
A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods.
A personality disorder that is characterized by a pervasive psychological dependence on other people.
A personality disorder that is characterized by a pervasive pattern of preoccupation with orderliness, perfectionism, and mental and interpersonal control at the expense of flexibility, openness, and efficiency.
OCPD
Anankastic personality disorder
obsessive-compulsive personality disorder
An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions).
Anancastic neurosis
obsessive compulsive disorder
A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities.
Dissociative identity disorder
A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated).
dissociative disease
dissociative reaction
A personality disorder that is characterized by a lack of interest in social relationships, a tendency towards a solitary lifestyle, secretiveness, emotional coldness and sometimes sexual apathy, with a simultaneous rich, elaborate and exclusively internal fantasy world.
A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others.
A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others.
A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood.
Asocial personality
Dissocial personality disorder
Psychopath.personality
Psychopathic personality
Psychopathic personality disorder
sociopathic personality
A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.
ADHD
attention deficit disorder
hyperkinetic disorder
attention deficit hyperactivity disorder
brain aneurysm
A kidney disease that is characterized by an inflammation of the kidneys.
A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis.
Infection by Strongyloides
disseminated strongyloidiasis
Cholesteatoma of middle ear and mastoid
Cholesteatoma of middle ear and/or mastoid
Cholesteatoma of the middle ear
Epidermosis of ear
Epidermosis of middle ear
cholesteatoma
middle ear cholesteatoma
A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk.
Diplegic infantile cerebral palsy
Infantile spastic cerebral palsy
Little's disease
Littles disease
cerebral spastic infantile paralysis
infantile diplegic cerebral palsy
Minimal Change Glomerulonephritis
Minimal change disease
Nephrotic syndrome with lesion of minimal change glomerulonephritis
Nephrotic syndrome with lesion of minimal change nephrotic syndrome
A spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. On the affected side,the arm and leg may not develop normally.
Congenital hemiplegia
Hemiplegic infantile cerebral palsy
hemiplegic cerebral palsy
spastic hemiplegic cerebral palsy
A spastic cerebral palsy that affects only one limb.
Monoplegic infantile cerebral palsy
infantile monoplegic cerebral palsy
spastic monoplegic cerebral palsy
A central nervous system disease that is characterized by the complete paralysis of half of the body.
Infantile hemiplegia
Postnatal infantile hemiplegia
A spastic cerebral palsy that affects all four limbs. The individuals have difficulty with walking and talking.
quadriplegic infantile cerebral palsy
spastic quadriplegic cerebral palsy
tetraplegic infantile cerebral palsy
acute salpingitis and oophoritis
Salpingitis/oophoritis
Tubo-ovarian inflammatory disease
An ovarian disease that is characterized by inflammation of the ovary.
membranous nephropathy
EF - Erythroblastosis foetalis
Haemolytic disease due to rhesus isoimmunisation
erythroblastosis fetalis
rhesus isoimmunisation of the newborn
A syndrome disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss.
Hereditary Nephritis
Conjunctival vascular abnormality
vascular abnormalities of conjunctiva
A thalassemia involving the genes HBA1and HBA2 hemoglobin genes.
Alpha thalassaemia
alpha-Thalassemia
A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema.
AHL
Weston-Hurst syndrome
acute haemorrhagic leucoencephalitis of Weston Hurst
acute hemorrhagic encephalomyelitis
acute necrotizing hemorrhagic leukoencephalitis
An encephalitis that is characterized by the immune system mistakenly attacking healthy cells in the brain instead of attacking only the cells causing the infection, often occuring two to three weeks after the initial infection.
Postinfective encephalitis
A senile cataract that is characterized by variable opacification of the lens of the eye with some clear lens fibers remaining.
Incipient cataract
Incipient senile cataract
Water clefts
An eye disease that affects the lens of the eye, which is the transparent disc that focuses light to the photosensors in the back of the eye.
A female reproductive system disease that is located_in the ovary.
Stenosis of rectum and anus
Corneal oedema
chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis
chronic rapidly progressive glomerulonephritis
A dissociative disorder where he continuity of the patient's memory is disrupted. Patients with dissociative amnesia have recurrent episodes in which they forget important personal information or events, usually connected with trauma or severe stress.
psychogenic amnesia
A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization.
Neurotic derealization
A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia.
Felty syndrome
Rheumatoid arthritis with splenoadenomegaly and leukopenia
A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery.
Neonatal aspiration of meconium
meconium aspiration
An urinary system cancer that results_in malignant growth located_in the urinary bladder.
bladder cancer
tumor of the bladder
A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia.
Pasteurella infection
Pasteurella infectious disease
Lymphoma of esophagus
Lymphoma of oesophagus
oesophagus lymphoma
A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix.
A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
cancer of esophagus
cancer of oesophagus
carcinoma of esophagus
carcinoma of oesophagus
A brucellosis that involves an infection caused by Brucella suis [NCBITaxon:29461] in swine and humans. The disease has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom diaphoresis, has_symptom arthralgia, has_symptom myalgia, has_symptom headache, has_symptom anorexia, and has_symptom fatigue.
A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue.
Maltese fever
undulant fever
Bang's disease
Gibraltar fever
Malta fever
Mediterranean fever
A parasitic ectoparasitic infectious disease that involves parasitic infestation by members of the subclass Hirudinea. The leeches remain attached to their hosts and feed on blood until they become full, at which point they fall off to digest. While feeding, they release an anesthetic and use a combination of mucus and suction to stay attached and secrete an anti-clotting enzyme, hirudin, into the host's blood stream.
Hirudiniasis
Leeches
melanoma of esophagus
melanoma of oesophagus
oesophagus melanoma
A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue.
Infestation by fly larvae
Infestation by maggots
Maggot infestation
A respiratory system disease that is characterized by deprivation of oxygen to a newborn infant that lasts long enough during the birth process to cause physical harm, usually to the brain.
Asphyxia - birth
Asphyxia, in liveborn infant
Birth asphyxia
postnatal asphyxia
A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia.
Infection due to Coxiella burnetii
A primary bacterial infectious disease that results in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted by body lice (Pediculus humanus corporis). The infection has symptom relapsing fever, has symptom headache, has symptom shin pain, and has symptom soreness of the muscles of the legs and back.
His-Werner disease
Quintan fever
Wolhynian fever
shin bone fever
tibialgic fever
A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella.
Bartonella infectious disease
Rochalimaea infection
bartonelliasis
A spotted fever that has_material_basis_in Rickettsia akari, which is transmitted_by house mouse mite (Liponyssoides sanguineus) found on mice and other rodents. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, and has_symptom papulovesicular rash.
Rickettsia akari spotted fever
Vesicular rickettsiosis
A primary bacterial infectious disease that results in infection, located in endothelial cell of artery or located in endothelial cell of vein, has_material_basis_in Rickettsia, which is transmitted by ticks and mites. The infection has symptom fever, has symptom headache, has symptom fatigue, has symptom muscle aches, and has symptom maculopapular or petechial rash. A distinctive eschar (blackened or crusted skin) may develop at the site of a tick bite.
Spotted fever group rickettsial disease
A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement.
Pigmentary retinal dystrophy
retinitis punctata albescens
A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year.
Guinon's disease
Psychogenic tics
Tourette syndrome
motor-verbal tic disorder
Dyspareunia, psychogenic
Non-organic dyspareunia
A dental pulp disease characterized by inflammation.
A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection.
Allergic purpura
Autoimmune purpura
Henoch-Sch?nlein purpura
Henoch-Sch@nlein purpura
Henoch-Scholein purpura
Henoch-Schonlein Purpura
Purpura, autoimmune
Qualitative platelet deficiency
secondary thrombocytopenia
Cyst of prostate
Dislocation of lacrimal gland
An esophageal cancer that arises from transformed cells of mesenchymal origin sarcoma and located_in the esophagus.
esophageal sarcoma
A glaucoma characterized by high aqueous fluid production and inflow relative to aqueous fluid outflow leading to inappropriately elevated intraocular pressure, which may lead to optic nerve damage and visual field loss. Hypersecretion glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Hypersecretion glaucoma is caused by high aqueous fluid inflow relative to outflow.
A glaucoma characterized by shallowing of the central and peripheral anterior chamber from posterior pressure such that the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Aqueous misdirection has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Aqueous misdirection is caused by an abnormal relationsihp between the ciliary body, lens, and anterior vitreous such that aqueous flow is diverted into the posterior segment, leading to increased posterior pressure, which further closes the angle. Aqueous misdirection may occur in association with glaucoma surgery, trauma, endophthalmitis, and retinopathy of prematurity.
A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm.
connective and soft tissue neoplasm
tumor of soft tissue and skeleton
A miliaria that is characterized by erythematous papules resulting in leakage of sweat into the deeper, subcorneal layers of the epidermis provoking a local inflammatory reaction.
prickly heat
A sweat gland disease that is characterized by reduced ability to sweat, has_symptom hyperthermia and dry skin of affected areas, and has_material_basis_in trauma to the sweat glands.
Oligohidrosis
A hypohidrosis that is characterized by the inability to sweat and has_symptom hyperthermia and dry skin.
Adiaphoresis
absence of sweating
A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop).
WC - Whooping cough
bordetella infection
whooping cough
A respiratory failure that is characterized by inadequate gas exchange by the respiratory system in neonates.
respiratory failure of newborn
A lung disease characterized by inadequate gas exchange by the respiratory system.
acute and chronic respiratory failure
acute respiratory Failure
acute-on-chronic respiratory failure
chronic respiratory failure
respiratory insufficiency/failure
Band-shaped keratopathy
A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection is characterized by a raised wart with roughened surface, most common on hands, but can grow anywhere on the body.
A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact.
A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.
Anogenital Human papilloma Virus Infectious Disease
Anogenital warts
Genital warts
genital wart virus infectious disease
venereal wart
Condyloma acuminatum
A otitis media which involves transudation of fluid in the middle ear without pus formation.
Nonsuppurative otitis media
A non-suppurative otitis media that is characterized by effusion with very thick and glue-like middle ear fluid which may cause conductive hearing impairment.
A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Pseudallescheria boydii, which results_in_formation_of abscesses.
Petriellidosis
A acute conjunctivitis which involves a fibrin-rich exudate formation on the surface of the conjunctiva. Infectious causes of pseudomembranes include Corynebacterium diphtheriae, streptococci, pneumococci, herpes simplex virus, adenovirus, Chlamydia and gonococci. Other causes include chemical (alkali) irritants, erythema multiforme, and ocular pemphigoid.
A synostosis that results_in the fusion of two or more digits.
chromosome 2q35 duplication syndrome
symphalangism
symphalangy
webbing of digits
An upper respiratory tract disease which involves inflammation of both larynx and pharynx.
A viral acute conjunctivitis that is characterized by conjunctival inflammation and serous discharge.
serous conjunctivitis, except viral
A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.
22q11.2 deletion syndrome
DiGeorge sequence
DiGeorge's syndrome
Pharyngeal pouch syndrome
A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood.
Bleeding esophageal varices
Bleeding oesophageal varices
esophageal varices
esophageal varices in disease classified elsewhere, with bleeding
esophageal varices with bleeding
esophageal varices with bleeding in disease EC
esophageal varices without bleeding
esophageal varices without mention of bleeding
A primary immunodeficiency disease that is characterized by decreased numbers of circulating or functioning T cells.
T cell immunodeficiency
T lymphocyte deficiency
T lymphocyte immunodeficiency
An endocrine system disease that is located_in the parathyroid gland.
disease of parathyroid glands
A hyperparathyroidism that is characterized by overproduction of parathyroid hormone and elevated levels of calcium in the blood.
familial primary hyperparathyroidism
Angelucci syndrome
acute atopic conjunctivitis
A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant.
A substance abuse that involves the recurring use of opioid drugs despite negative consequences.
A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has_symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss.
simple buphthalmos
A primary congenital glaucoma characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure and increased corneal diameter and has_symptom early vision loss, increased corneal diameter, and increased corneal thickness. Hydrophthalmus is caused by congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss.
A bacterial acute conjunctivitis that is characterized by highly contagious conjunctival hypermia and mucopurulent discharge and has_material_basis_in Hemophilius Aegypticus.
Contagious opthalmia
Pink eye
Pinkeye
An acute conjunctivitis characterized by conjunctival folliculosis and follicular hypertrophy of the palpebral conjunctivae.
acute follicular conjunctivitis
Diverticulosis of small intestine with hemorrhage
A viral infectious disease that results in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted by contaminated fomites or transmitted by contact with contaminated hands. The infection has symptom vascular dilation, has symptom eyelid edema, has symptom photophobia, has symptom redness of the eyes, has symptom watering of the eye, has symptom conjunctival congestion, and has symptom superficial punctate epithelial keratitis.
Apollo disease
Epidemic hemorrhagic conjunctivitis
viral conjunctivitis
spondarthropathy
spondylarthrosis
acute inflammation of orbit
An acute orbital inflammation that is characterized by inflammation of the periosteum of the orbit.
An acute orbital inflammation that is characterized by inflammation of the medullary cavity of orbital bone that eventually spreads to the periosteum.
An acute orbital inflammation that is characterized by inflammation of the capsule of Tenon.
Tenonitis
An acute orbital inflammation that is characterized by painful orbital mass and has_symptom eyelid edema, has_symptom erythema, has_symptom chemiosis, has_symptom proptosis, has_symptom blurred vision, has_symptom headache, has_symptom fever and has_symptom double vision.
An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear.
chronic adhesive otitis media
A intestinal cancer that is located_in the appendix.
cancer of the appendix
malignant neoplasm of appendix vermiformis
malignant tumor of appendix
malignant tumor of the appendix
appendix neoplasm
neoplasm of appendix
Appendiceal Lymphoma
Neonatal polycythemia
anaemia neonatal
anemia neonatal
neonatal anaemia
Disseminated intravascular coagulation in newborn
DIC
Defibrination syndrome
Diffuse or disseminated intravascular coagulation
A nutritional deficiency disease that is characterized by easy bleeding due to an inability to form blood clots caused by vitamin K deficiency, occurs most commonly in newborns, and has_material_basis_in deficiency of vitamin K secondary to liver prematurity, lack of vitamin K in a breastmillk diet, largely sterile gut, malabsorption, diarrhea, chronic illness, menorrhagia, chronic kidney disease, and some medications.
deficiency of vitamin K
vitamin K deficiency
vitamin K deficiency hemorrhagic disease
An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses.
Brill Zinsser disease
Brill's disease
Recrudescent typhus
Latent typhus
Sporadic typhus
A primary bacterial infectious disease that refers to a group of diseases, located in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted by lice, transmitted by fleas, and transmitted by mites.
Endemic Typhus fever
Exanthematic Typhus fever
Flea typhus
Louse-borne [epidemic] typhus
Moscow typhus
Murine [endemic] typhus
Typhus fever
endemic flea-borne typhus
epidemic louse-borne typhus
Classical typhus
Epidemic (louse-borne) typhus
Epidemic louse-borne typhus fever due to Rickettsia prowazekii
European typhus
Exanthematous typhus
Famine fever
Flea-borne rickettsiosis
Flea-borne typhus
Hospital fever
Jail fever
Louse-borne rickettsiosis
Louse-borne typhus
Mexican typhus
Murine typhus
Petechial fever
Prison fever
Rat flea typhus
Ship fever
Typhus exanthematique
Urban typhus
A phobic disorder that involves social anxiety occurring only in specific public or social situations, interactions with others or being evaluated or scrutinized by other people.
A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain.
Debre's Syndrome
Debre-Mollaret Syndrome
Foshay-Mollaret Cat Scratch Fever
benign lymphoreticulosis
cat scratch fever
A viral infectious disease that results in inflammation located in brain or located in spinal cord, has_material_basis_in Rabies virus, which is transmitted by bite of an infected animal, or transmitted by contact of mucous membranes with saliva of an infected animal. The infection has symptom fever, has symptom headache, has symptom prickling or itching sensation at the site of bite, has symptom anxiety, has symptom confusion, has symptom agitation, has symptom delirium, has symptom difficulty swallowing, has symptom hydrophobia, and has symptom paralysis.
Lyssa
A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia.
psittacosis
A commensal bacterial infectious disease that is caused by Chlamydia trachomatis.
Chlamydia trachomatis infectious disease
Chlamydial Infection
chlamydial disease
A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea.
active stage trachoma
trachoma dubium
A viral infectious disease that is a hemorrhagic fever, located in kidney, has_material_basis_in Hantaan virus, has_material_basis_in Dobrava-Belgrade orthohantavirus has_material_basis_in Seoul virus, or has_material_basis_in Puumala virus, which are carried and transmitted by rodents. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure.
HFRS
Hemorrhagic fever, Russian
Hemorrhagic nephrosonephritis
Puumala virus nephropathy
Hantavirus hemorrhagic fever with renal syndrome
Plummer disease
toxic nodular goiter
Solar retinitis
A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage.
An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease.
Air-conditioner and humidifier lung
Humidifier lung
A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system.
Arteriovenous hemangioma
Cirsoid aneurysm
Racemose Angioma
Racemose aneurysm
Racemose hemangioma
Occlusion and stenosis of vertebral artery
Pituitary infarction
A schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, Austrobilharzia variglandis. The disease has symptom skin reddening, has symptom skin itching, in the water or immediately after emerging and has symptom itchy, raised papules, occur within hours of infection.
Cutaneous schistosomiasis
Sea bather's eruption
Mobitz (type) II atrioventricular block
Mobitz II atrioventricular block
A histoplasmosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted by airborne spores and results in formation of nodules, results in formation of ulcers and results in formation of osteolytic bone lesions.
Histoplasmosis with retinitis
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Kyasanur forest disease virus, which is transmitted by Haemaphysalis spinigera tick bite. The infection has symptom fever, has symptom headache, has symptom stiffness of the neck, has symptom severe muscle pain, has symptom cough, has symptom dehydration, and has symptom bleeding problems.
A psychotic disorder that involves schizophrenia symptoms over time period of one month.
A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later.
Dactylolysis spontanea
A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.
Boeck sarcoid
lymphogranulomatosis
A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis.
A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling.
Lemierre syndrome
human necrobacillosis
postanginal sepsis
acute sore throat
A primary bacterial infectious disease that results in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli.
Infection due to Clostridium tetani
clostridial tetanus
An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever.
Pneumocystis carinii pneumonia
Pneumocystis jirovecii pneumonia
Pneumocystis pneumonia
Pneumocystosis pneumonia
pulmonary pneumocystosis
Gingival recession, localized
localized gingival recession
minimal gingival recession
moderate gingival recession
severe gingival recession
Arcus of cornea
corneal arcus
An eye disease that affects the sclera, which is the white fibrous outer layer of the eyeball.
Diverticulum - bladder
Diverticulum of bladder
calculus in diverticulum of bladder
A viral infectious disease that results in infection, has_material_basis_in Sandfly fever Naples virus, or has_material_basis_in Sandfly fever sicilian virus, which are transmitted by Phlebotomus papatasi sandfly. The infection has symptom fever, has symptom severe frontal headaches, has symptom muscle ache, has symptom joint aches, has symptom flushing of the face, and has symptom tachycardia.
Sandfly fever
Sandfly-borne arboviral fever
Sandfly-borne bunyavirus fever
Sandfly-borne phleboviral disease
pappataci fever
Subluxation of lens
APHAKIA, CONGENITAL PRIMARY
Congenital absence of lens
functional diarrhoea
A colonic disease that is characterized by an abnormal dilation of the colon.
Dilatation of colon
A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis.
Gnathostomiasis
Infectious Disease by Gnathostoma
Spinal Cord meningioma
Cryptorchism
Undescended testicle
Undescended testis
undescended testicles
A language disorder that involves difficulties with verbal and written expression characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a language comprehension that is within normal limits.
Developmental expressive language disorder
A central nervous system disease that is characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine and is caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges).
abscess epidural
A central nervous system disease that is characterized by the collection or gathering of pus within the subdural space.
Subdural abscess
A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.
ARDS
Non-cardiogenic pulmonary edema
Shock lung
adult RDS
A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure.
A cardiovascular system disease that involves the heart.
A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys.
corynebacterium infection
A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the fallopian tube.
Endometriosis of fallopian tube
A female reproductive system disease characterized by the growth of fallopian tube-like epithelium outside the fallopian tube.
A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the intestine.
A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the pelvic peritoneum.
Divergent Strabismus
Divergent concomitant strabismus
A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the scar of the skin.
A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the rectovaginal septum and vagina.
endometriosis of rectovaginal septum and vagina
A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the ovary.
ovarian endometriosis
A hypersensitivity vasculitis that results_in inflammation of small blood vessels, characterized clinically by palpable purpura, which is a slightly elevated purpuric rash over one or more areas of the skin.
Allergic Cutaneous Angiitis
Autoimmune Hypersensitivity angiitis
perinatal jaundice due to hepatocellular damage
A brain disease that is characterized by pressure on the intracranial tissues by an effusion of blood or cerebrospinal fluid, an abscess, a neoplasm, a depressed fracture of the skull, or edema of the brain.
benign intracranial hypertension
idiopathic intracranial hypertension
A peripheral nervous system disease that is located_in the autonomic nervous system.
autonomic nervous system disorder
Ca larynx - subglottis
malignant Subglottic tumor
malignant tumor of subglottis
A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.
A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot.
postaxial polydactyly
Supernumerary digit
A pericardial effusion that results from blood in the pericardial sac.
Haemopericardium
An autonomic neuropathy that is characterized by the classic triad of unilateral ptosis, unilateral miosis with anisocoria, and ipsilateral facial anhidrosis, resulting from unilateral paralysis of the cervical sympathetics.
Bernard Horner syndrome
Horner syndrome
cervical sympathetic paralysis
idiopathic peripheral autonomic neuropathy
A nutritional deficiency disease that is characterized by vitamin A deficiency causing poor adaptation of the eyes to low levels of light, and has_material_basis_in lack of vitamin A such that rhodopsin, a light sensitive retinal pigment, cannot be regenerated.
A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch.
Rose's tamponade
pericardial tamponade
Congenital insufficiency of mitral valve
Mitral valve incompetence
congenital mitral insufficiency
congenital mitral regurgitation
mitral regurgitation
A otitis media which involves inflammation of the middle ear with infected effusion containing pus.
Otitis media with effusion - purulent
Purulent otitis media
An eating disorder that is characterized by effortless regurgitation of most meals following consumption.
Psychogenic rumination
A hepatic vascular disease that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion.
hepatic vein thrombosis
Congenital fissure of tongue
Congenital plicated tongue
Fissure of tongue
Fissure of tongue, congenital
Furrowed tongue
Plicated tongue
Tongue, Fissured
geographic tongue and fissured tongue
lingua plicata
scrotal tongue
A heart disease that is caused by high blood pressure.
hypertensive renal disease, benign
hypertensive renal disease, benign, without mention of renal failure
Stenosis of larynx
recurrent erosion of cornea
recurrent erosion syndrome
Deposits - cornea
A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon.
Adie's pupil or syndrome
Adie's pupil syndrome
Adie's syndrome
Holmes-Adie syndrome
III nerve palsy
IIIrd nerve Paralysis
Third cranial nerve paralysis
Bowman membrane folds or rupture
A corneal dystrophy that is characterized by corneal edema, iris atrophy, and secondary angle-closure glaucoma caused by an inflammatory or infectious insult that causes the endothelium to fail to pump aqueous humor from the cornea, leading to fluid accumulation, microcystic edema, and angle-closure glaucoma.
Chandler's syndrome
Dystrophy of corneal endothelium
Endothelial corneal dystrophy
Posterior membrane corneal dystrophy
A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision.
FCED
Fuchs' corneal dystrophy
Fuchs' endothelial corneal dystrophy
A acute transudative otitis media with thin, watery and sterile effusion.
acute non-suppurative otitis media - serous
A acute serous otitis media caused by an allergen.
An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint.
calcium pyrophosphate deposition disease
pseudogout
A vasculitis that is characterized by inflammation of the vascular branches of the retinal artery and has_symptom painless decrease of visual acuity, visual floaters, dark spot in vision, decreased ability to distinguish colors, and distortion of images such as linear images.
A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormatlities.
Cardiovascular malfunction arising from mental factors
Cardiovascular neurosis
Da Costa's syndrome
Krishaber's disease
A bacterial meningitis that has_material_basis_in Listeria monocytogenes infection.
A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth.
Infection by Listeria monocytogenes
Listeria infection
A bacterial meningitis that has_material_basis_in streptococcal bacteria.
A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord.
Phlyctenular keratoconjunctivitis
Strumous ophthalmia
A hereditary sensory neuropathy that is characterized by gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception and has_material_basis_in homozygous or compound heterozygous mutation in the IKBKAP gene (ELP1) on chromosome 9q31.
HSAN III
familial autonomic nervous dysfunction
familial dysautonomia
Lateral Wall of bladder
malignant neoplasm of lateral wall of urinary bladder
Scleral ectasia
An autonomic nervous system disease that is characterized by facial sweating and flushing with gustatory stimulation, resulting from a disruption of the auriculotemporal nerve pathways.
Baillarger syndrome
gustatory hyperhidrosis
gustatory sweating
Pericardial tumor
malignant neoplasm of pericardium
malignant tumor of Pericardium
A breast disease that is characterized by benign proliferation of glandular breast tissue and occurs in children less than one year of age.
Neonatal gynaecomastia
breast engorgement in newborn
A meningitis that has_material_basis_in a fungal infection.
An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight.
Multicystic ovaries
PCOS
Polycystic Ovarian disease
Polycystic ovaries
Stein-Leventhal synd.
Stein-Leventhal syndrome
polycystic ovary
hyperandrogenization syndrome
Ca penis
Penile Ca
malignant Penile tumor
malignant neoplasm of body of penis
penile neoplasm
A dental pulp disease characterized by death of the pulp tissue.
necrosis of the pulp
necrotic pulp
pulp necrosis
Penile tumor
neoplasm of penis
A prolapse of female genital organ that is characterized by a decrease in muscle mass and tissue in the pelvic floor, vagina, vulva and urinary tract due to aging, menopause and its subsequent reduction of estrogen, or a combination of the two.
Generalized thyroid hormone resistance
Refetoff syndrome
Thyroid hormone responsiveness defect
thyroid hormone resistance
Spasm of accommodation
A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.
Bronchopulmonary dysplasia of newborn
Perinatal bronchopulmonary dysplasia
neonatal chronic respiratory disease
A pemphigoid that is characterized by skin lesions and scaring and located_in mucous membranes and located_in skin.
Cicatricial pemphigoid with ocular involvement
Ocular pemphigoid
benign mucous membrane pemphigoid
benign mucous membrane pemphigoid with ocular involvement
ocular pemphigus
An arthritis that involves sudden and rapidly developing attacks of arthritis with a remission period that results_in no joint damage or symptoms.
Hench's syndrome
Hench-Rosenberg syndrome
A color blindness that is characterised by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function.
Tritan defect
Tritanopia
renal sclerosis
D1 Trisomy
trisomy 13
Patau's syndrome
A pigmentation disease that is characterized by loss of pigmentation of the eyelid and has_symptom white or light macules or patches on the eyelid, and has_material_basis_in autoimmune conditions like vitiligo, chronic inflammation, malignancy, or exposure to destructive substances.
A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy.
Infection by Onchocerca volvulus
Onchocerca volvulus infection
volvulosis
familial hyperlipoproteinemia
hyperlipemia
hyperlipidaemia
acute apical periodontitis of pulpal origin
A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein.
A cardiovascular cancer located_in the heart.
Cardiac tumor
Tumour of heart
malignant Cardiac tumor
malignant neoplasm of heart
A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract.
Immunoglobulin A deficiency
Selective immunoglobulin A deficiency
selective IgA immunodeficiency
A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins.
Fredrickson type V lipaemia
familial hyperlipoproteinemia type V
familial type 5 hyperlipoproteinemia
A type 2 diabetes mellitus that is characterized by severe insulin resistance and lipodystrophy.
lipoatrophic diabetes
A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes.
Diabetic vascular disorder
A diabetes mellitus that manifests during pregnancy.
GDM
Gestational diabetes mellitus
Maternal gestational diabetes mellitus
A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes.
Prediabetes
prediabetic state
A diabetes mellitus that is characterized by hyperglycemia occuring within the first 6 months of life.
diabetes mellitus syndrome in newborn infant
A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences.
Muscular dystrophy, oculopharyngeal
Endogenous hyperlipidaemia
Fredrickson type IV Lipidemia
Fredrickson type IV hyperlipoproteinemia
Fredrickson type IV lipidaemia
VLDL hyperlipoproteinemia
familial hypertriglyceridemia
A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands.
Miyoshi muscular dystrophy
distal muscular dystrophy
A glycogen storage disease that is characterized by mild to moderate hypoglycemia, mild ketosis, growth retardation, and prominent hepatomegaly and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGL gene, which encodes liver glycogen phosphorylase, on chromosome 14q22.
Glycogen storage disease, type VII
Muscle phosphofructokinase deficiency
glycogen storage disease type VII
phosphofructokinase myopathy
A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.
Dystrophia myotonica
Steinert disease
congenital myotonic dystrophy
myotonic dystrophy of Steinert
A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.
Muscular dystrophy, Duchenne
A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles.
Erb's muscular dystrophy
Leyden-Mbius muscular dystrophy
limb girdle muscular dystrophy
A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.
Brachmann de Lange syndrome
De Lange syndrome
A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.
EDMD
Landouzy Dejerine muscular dystrophy
Landouzy-Dejerine muscular dystrophy
Muscular dystrophy, Landouzy-Dejerine
A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system.
Bannwarth syndrome
Bannworth's syndrome
Lyme borreliosis
Neurological Lyme disease
lyme neuroborreliosis
neuroborreliosis
A uterine adnexa cancer that is located_in the parametrium.
A uterine cancer that is located_in the adnexa.
A uterine adnexa cancer that is located_in the round ligament.
malignant neoplasm of round ligament
malignant neoplasm of round ligament of uterus
A pertussis that is a milder disease caused by the bacterium Bordetella parapertussis. The disease has_symptom coughing, has_symptom sneezing, or has_symptom runny nose .
An eye degenerative disease that is characterized by intraocular iron toxicity typically due to a retained foreign body.
Siderosis of globe
A common bile duct disease characterized by the presence of at least one gallstone in the common bile duct.
A nutritional deficiency disease that is characterized by pallor, fatigue, lightheadedness, and weakness and has_material_basis_in low total body iron causing impaired synthesis of red blood cells.
ANEMIA HYPOCHROMIC
A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage.
An osteochondrosis that results_in death and collapse located_in navicular bone of foot.
Juvenile osteochondrosis of foot
Kohler disease
Ocular nystagmus
Searching eye movements
visual deprivation nystagmus
Leucocoria
A glaucoma that is characterized by a total loss of vision, uncontrolled pressure in the eye, severe pain in the eye, absence of pupillary light reflex, absence of pupillary response, and the eye has a stony appearance.
A refractive error characterized by the optics of the eye to focus a point object into a sharp focused image on the retina, has_symptom blurred vision.
partial loss or necrosis of ear ossicles
A laryngitis in which symptoms last longer than three weeks. Gastroesophageal reflux, and lingering bronchitis can cause the disease.
A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity.
A nutritional deficiency disease that is characterized by inadequate dietary protein and calories, which can have profound systemic effects including decreased metabolism, altered tissue distribution, compromised immunity, and impaired growth, and has_material_basis_in dietary deprivation.
malignant neoplasm of urinary bladder neck
malignant tumor of bladder neck
malignant neoplasm of posterior wall of urinary bladder
A sarcoma and malignant neoplasm of urinary bladder that is located_in the bladder.
sarcoma of bladder
sarcoma of the urinary bladder
malignant neoplasm of trigone of urinary bladder
malignant tumor of trigone of bladder
malignant tumor of trigone of urinary bladder
malignant neoplasm of anterior wall of urinary bladder
Vitreous degeneration
malignant tumor of urachus
Orifice of the Ureter
malignant neoplasm of ureteric orifice of urinary bladder
malignant tumor of ureteric orifice
A urinary system cancer that is located_in the ureter.
malignant tumour of ureter
malignant ureteral tumor
Superior Surface of bladder
malignant neoplasm of apex of urinary bladder
malignant neoplasm of dome of urinary bladder
malignant tumor of vault of bladder
Lymphoma of the urinary bladder
An acute kidney failure that is characterized by severe renal vasoconstriction.
A syndrome that is characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis.
Lipoid dermatoarthritis
degenerative progressive high myopia
pathological myopia
progressive high (degenerative) myopia
progressive high myopia
A refractive error characterized by the inability to see farther objects clearly.
near vision
near-sightedness
short-sightedness
epilepsy, visual
A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities.
Congenital equinovarus
Equinovarus deformity of foot
congenital clubfoot
congenital talipes equinovarus
A sarcoma and malignant neoplasm of penis that is located_in the penis.
sarcoma of penis
malignant neoplasm of glans penis
malignant tumor of glans penis
malignant tumour of glans penis
A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.
Coronary Vasospasm
Coronary artery spasm
Congenital anomaly of coronary artery
Coronary artery abnormality
Coronary artery anomaly, congenital
Coronary artery thrombosis
A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules.
Uncharacteristic leprosy
Posterior tibial neuropathy
Dementia in Pick's disease
LOBAR ATROPHY OF BRAIN
PICK DISEASE OF BRAIN
Pick disease
abnormal dark adaptation curve
Denture sore mouth
A neuropathy that is characterized by damage to a single nerve, which results in loss of movement, sensation, or other function of that nerve.
neoplasm of ureter
ureteral tumor
An ureteral benign neoplasm that derives_from smooth muscle cells.
ureteral leiomyoma
ureteral schwannoma
A female breast cancer that is located_in the nipple and areola.
malignant neoplasm of nipple and areola of female breast
malignant neoplasm of nipple or areola of female breast
A female reproductive system cancer that is located_in the vagina.
malignant neoplasm of vagina
malignant tumor of vagina
malignant vaginal tumor
neoplasm of vagina
vagina neoplasm
vaginal tumor
A vulva cancer that is located_in the labium majus.
malignant neoplasm of labia majora
malignant tumor of Labia Majora
Gastroparalysis
Gastroparesis syndrome
gastric atonia
A dermatophytosis that results_in fungal skin infection located_in groin, located_in perineum, or located_in perianal region, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching in groin, thigh skin folds, or anus and results_in_formation_of rash which appears as raised red plaques (platelike areas) and scaly patches with sharply defined borders that may blister and ooze.
Dermatophytosis of groin & perianal area
Dhobie itch
dermatophytosis of groin and perianal area
A nervous system cancer that is located in the peripheral nervous system.
neoplasm of peripheral nerve
nerve sheath neoplasm
tumor of PNS
A respiratory system cancer that is located_in the trachea.
An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx.
head and neck neoplasm
head and neck tumours
head/neck neoplasm
tumor of head and neck
CJD
Creutzfeldt Jacob syndrome
Creutzfeldt Jakob disease
Creutzfeldt-Jacob disease
Jakob-Creutzfeldt disease
Subacute spongiform encephalopathy
Transmissible virus dementia
Ischemic peripheral neuropathy
acute esophagitis
A vaginitis that occurs in postmenopausal women and is characterized by vaginal atrophy secondary to estrogen deficiency.
Senile vaginitis
atrophic vaginitis
A dysostosis that results_in abnormal fusing of adjacent bones.
Coloboma of optic disc
Morning glory syndrome
A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located in neuromuscular junction resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F.
Botulism poisoning
Food poisoning due to Clostridium botulinum
Foodborne botulism
Infection due to clostridium botulinum
Intoxication with Clostridium botulinum toxin
Severe obesity
A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity.
Prader Willi syndrome
An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.
hypertrophic obstructive cardiomyopathy
A tularemia that results_in painful regional lymphadenopathy and an ulcerated skin lesion.
An osteosclerosis that results_in numerous bone islands located_in skeleton.
Torsion of testicle
Torsion of testis
testicular Torsion
A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva.
female reproductive cancer
malignant Gynecologic tumor
malignant neoplasm of female genital organ
Lymphoma of Trachea
lymphoma of the trachea
A sarcoma and malignant tumor of trachea that is located_in the trachea.
sarcoma of the trachea
A squamous cell carcinoma that is located_in the trachea.
Tracheal Epidermoid carcinoma
neoplasm of trigeminal nerve
tumor of Trigeminal nerve
Ischemic optic neuropathy
malignant neoplasm of frontal lobe
neoplasm of frontal lobe
tumor of Frontal Lobe
An adrenal adenoma characterized by the over production of aldosterone.
Conn syndrome
primary aldosteronism
primary hyperaldosteronism
A panuveitis that is characterized by bilateral diffuse intraocular inflammation following penetrating trauma to an eye, has_symptom blurry vision, watering, pain, and photophobia.
Sympathetic uveitis
An uveitis that is characterized by inflammation of all layers of the uvea (middle layer) of the eye, which includes the iris, ciliary body, and choroid.
Diffuse uveitis
An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods.
allergic hypersensitivity disease
hypersensitivity
hypersensitivity reaction type I disease
An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii.
Busse-Buschke's disease
European cryptococcosis
cryptococcal infection
torula
torulosis
cryptococcus neoformans infection
Meningitis in sarcoidosis
A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability.
Rett's disorder
cerebroatrophic hyperammonemia
Neurofibroma of mediastinum
Dieulafoy lesion (hemorrhagic) of intestine
dieulafoy lesion (hemorrhagic) of stomach and duodenum
Transient arthropathy involving forearm
Transient arthropathy involving hand
Transient arthropathy involving lower leg
Transient arthropathy involving multiple sites
Transient arthropathy involving pelvic region and thigh
Transient arthropathy involving shoulder region
Transient arthropathy involving upper arm
Deep vascularization of cornea
An optic neuritis that is characterized by nutritional deficiency causing optic nerve dysfunction, has_symptom painless bilateral progressive decrease in visual acuity and color perception, and has_material_basis_in nuritional deficits, especially of folate and vitamin B, which can be associated with restrictive diets and alcohol abuse.
A primary bacterial infectious disease that results_in infection, has_material_basis_in Spirillum minus, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom relapsing fever, has_symptom rash and has_symptom joint pain.
Spirillary fever
Spirillosis
Trifacial neuralgia
trifocal neuralgia
A female reproductive system disease that is located_in the vagina.
An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision.
Inflammatory spondylopathies in disease EC
Inflammatory spondylopathies in disease classified elsewhere
Inflammatory spondylopathy in disease classified elsewhere
A lung disease that is characterized the accumulation of tiny fragments of calcium phosphate gradually accumulate in the alveoli of the lungs.
A lung disease with an unknown etiology affecting the lungs which results in bleeding from tiny alveolar capillaries. Examination of sputum and bronchoalveolar lavage fluid can disclose hemosiderin-laden alveolar macrophages (siderophages), and the lung biopsy shows numerous siderophages in the alveoli. Alveolar hemorrhage is characterized by hemoptysis, shortness of breath, alveolar infiltrates on chest radiograph, and various degrees of anaemia. Following a bleeding episode, the alveolar macrophages convert the hemoglobin's iron into hemosiderin within 36-72h.
Idiopathic pulmonary hemosiderosis
brown induration
brown lung
An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload.
haemosiderosis
A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.
Post-inflammatory pulmonary fibrosis
A scleral disease that is characterized by painful inflammation of the episcleral tissues that, importantly, spares the sclera itself and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Episcleritis periodica fugax is typically self-limited but may be related to vascular congestion within the superficial episcleral plexus and associated with autoimmune disease, connective tissue disease, malignancies, trauma, infection, and medications, especially topiramate and pamidronate.
An eating disorder that is characterized by an appetite for non-nutritive substances or food ingredients.
An eating disorder characterized by the restraining of food intake for a period of time followed by an over intake or binging period that results in feelings of guilt and low self-esteem.
hyperorexia nervosa
An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels.
Necrotizing respiratory granulomatosis
Wegener granulomatosis, formerly
A blood coagulation disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.
Congenital factor VIII disorder
Hemophilia A
Subhemophilia
classic hemophilia A
A mood disorder that involves the presence of a low mood almost daily over a span of at least two years.
dysthymia
A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis.
Chagas' disease
chagas' disease with digestive system involvement
chagas' disease with nervous system involvement
chagas' disease with other organ involvement
American trypanosomiasis
Neuropathic bladder
neurogenic dysfunction of the urinary bladder
neurogenic urinary bladder disorder
Low bladder compliance
hyperactivity of bladder
hypertonic bladder
hypertonicity of bladder
An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain.
Multilocular hydatid
alveolococcosis
small fox tapeworm
echinococcus multilocularis infection
A viral infectious disease that results in infection located in brain, or located in meninges, or located in brain and meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted by common house mouse, Mus musculus. The infection has symptom fever, has symptom lack of appetite, has symptom headache, has symptom muscle aches, has symptom malaise, has symptom nausea, and has symptom vomiting.
LCM
Lymphocytic choriomeningitis virus encephalomyelitis
Lymphocytic meningitis
Lymphocytic meningoencephalitis
A meningitis that is characterized by meningeal inflammation not caused by an identifiable bacterial pathogen in the cerebrospinal fluid. A large majority of them are caused by enteroviruses.
acute aseptic meningitis
peripheral degeneration of retina
secondary pigmentary degeneration of retina
secondary pigmentary retinal degeneration
Senile reticular degeneration of retina
Blessig cysts
Iwanoff's cysts
Microcystoid degeneration of retina
Microcystoid retinal degeneration
Palisade degeneration of retina
Paving stone degeneration of retina
Paving stone retinal degeneration
Lesion of ulnar nerve
CTS - Carpal tunnel syndrome
Median nerve entrapment
carpal tunnel median neuropathy
A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna.
Lesion of radial nerve
Radial nerve lesions
dyshormonogenic goitre
A thyroid gland disease that involves an abnormal enlargement of the thyroid gland.
goitre
An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that esults in insufficient production of antibodies needed to respond to exposure of pathogens.
CVID
acquired agammaglobulinemia
acquired hypogammaglobulinemia
common variable agammaglobulinemia
sporadic hypogammaglobulinemia
A dermatophytosis that results_in fungal infection located_in skin, limited to the stratum corneum of the epidermis, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, and has_symptom red colored skin rash. The border of the rash lesions look scaly.
Dermatophytosis of the trunk
dermatophytosis of the body
A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain.
Infection by Echinochasmus
An otitis interna characterized by an abnormal bone growth in the middle ear.
A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain.
disease due to Dicrocoeliidae
Ca descending colon
malignant neoplasm of left colon
malignant tumor of descending colon
Ca splenic flexure - colon
malignant neoplasm of splenic flexure
malignant tumor of splenic flexure
Ca sigmoid colon
malignant tumor of sigmoid colon
Punctate keratitis
Thygeson superficial punctate keratitis
Thygeson's superficial punctate keratitis
punctate epithelial keratoconjunctivitis
A viral infectious disease that results in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding.
Dengue Fever
breakbone fever
classic dengue
classical dengue
A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever.
DHF
Dengue haemorrhagic fever
A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis.
Bancroftian elephantiasis
Bancroftian filarial chyluria
Lymphatic filariasis
elephantiasis of eyelid
A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion.
Oligohydramnios - delivered
antepartum oligohydramnios
delivered oligohydramnios
A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities.
Dementia with Lewy bodies
Diffuse Lewy body disease
Lewy body disease
Senile dementia of the Lewy body type
A connective tissue disease that is located_in cartilage.
Cartilage disorder
Chondropathy
Specific bursitides often of occupational origin
specific bursitis often of occupational origin
Hourglass stricture or stenosis of stomach
A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.
biliary liver cirrhosis
cholestatic cirrhosis
chronic nonsuppurative destructive cholangitis
A biliary tract disease characterized by the flow of bile up into the stomach and/or esophagus.
Perianal skin squamous cell carcinoma
A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.
Histoplasmosis with meningitis
lymphoma of the testis
malignant lymphoma of testis
A blood coagulation disease that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.
Congenital factor IX deficiency
Congenital factor IX disorder
deficiency, functional factor IX
factor IX deficiency
chronic salpingitis and oophoritis
chronic salpingitis/oophoritis
An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.
coloboma of eye
coloboma of macula
congenital ocular coloboma
An iris disease that is characterized by a complete or partial absence of the colored part of the eye.
Aplasia of iris
A pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with Corynebacterium diphtheriae as the bacteria releases the diphtheria toxin.
malignant neoplasm of retained testis
malignant neoplasm of undescended testis
malignant tumor of retained testis
malignant tumour of retained testis
malignant tumour of undescended testis
Phlebitis and thrombophlebitis of femoral vein
Thrombophlebitis of deep femoral vein
Thrombophlebitis of the femoral vein
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo hemorrhagic fever virus, which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine.
CHF Congo virus
Congo-Crimean Hemorrhagic Fever
Crimean hemorrhagic fever
A schizophrenia characterized by delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening.
Paranoid type schizophrenia
Paraphrenia - late
Paraphrenic schizophrenia
chronic paranoid schizophrenia
paranoid type schizophrenia subchronic state
A mood disorder that is characterized by mood reactivity and positivity, significant weight gain or increased appetite, excessive sleep or somnolence, a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection.
Atypical depression
An autoimmune disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis.
Harada's disease
Vogt-Koyanagi syndrome
uveomeningoencephalitic syndrome
Ca intrahepatic bile ducts
malignant neoplasm of intrahepatic bile ducts
malignant neoplasm of intrahepatic biliary passages
malignant neoplasm of intrahepatic gall duct
Incontinentia pigmenti
Incontinentia pigmenti syndrome
An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.
Anterior corneal pigmentations
A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile.
Dubin Johnson syndrome
chronic idiopathic jaundice
UP/MPCM
Stromal corneal pigmentations
An epithelial-stromal TGFBI dystrophy that is characterized by progressive accumulation of deposits within the layers of the cornea.
A chronic asthma that is characterized by chronic nonproductive cough without shortness of breath.
A protein-energy malnutrition that is characterized by severe caloric deprivation, has_symptom emaciation, decreased height and weight gain, and decreased metabolism with hypothermia, bradycardia, and constipation, and has_material_basis_in severe caloric deprivation.
Nutritional atrophy
Nutritional marasmus
Dual-role transvestism
Fetishistic transvestism
Transvestic fetishism
cross dresser
Hematocele
male hematocele
Stricture of male genital organs
vascular disorder of male genital organs
Scrotal varices
A sexual health disorder that involves a conflict between a person's actual physical gender and the gender that person identifies himself or herself as.
A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space.
carcinoma of Retroperitoneum
carcinoma of the retroperitoneum
An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.
Lobstein's syndrome
Osteopsathyrosis
Vrolik's disease
brittle bone disease
Fragilitas ossium
primary hypotony of eye
acute alcoholic hepatitis
acute alcoholic liver disease
A labyrinthitis which involves viral infection of the inner ear through the upper airway or the blood stream. The symptoms may include hearing loss and ringing in the ears. If the virus reaches the vestibular system, dizziness, severe vertigo with nausea and vomiting, and imbalance can occur.
Epidemic vertigo
A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection.
Lateral displacement of globe
An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.
Grave's disease
Graves disease
exophthalmic goiter
Basedow's disease
Intermittent exophthalmos
A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.
induced malaria
A prolapse of female genital organ that is characterized by the descent of the urethra from the normal anatomic location toward or through the vaginal opening.
Urethrocele
A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses.
Chest infection - bronchopneumonia
bronchial pneumonia
lobular pneumonia
A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk.
Kugelberg-Welander disease
SMA3
Type III Spinal Muscular Atrophy
A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.
Complex partial epileptic seizure
epilepsy, psychomotor
psychomotor epilepsy
An intestinal infectious disease that involves inflammation of the intestines, especially colon, due to chemical irritants, bacteria, protozoa, or parasitic worms, which results in severe diarrhea with passage of mucus and blood.
Infectious diarrhea
A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces.
Shigella boydii infectious disease
Shigella flexneri infectious disease
Shigella gastroenteritis
Shigella sonnei infectious disease
bacillary dysentery
A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath.
A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH).
vasopressin-resistant diabetes insipidus
Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS].
A central diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis and that has_material_basis_in heterozygous mutation in the arginine vasopressin gene (AVP) on chromosome 20p13.
Pituitary diabetes insipidus
Vasopressin deficiency
vasopressin defective diabetes insipidus
An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life.
Compulsive gambling
A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.
An impulse control disorder that involves the repeated impulse to steal for no great gain, when he or she has sufficient money to pay for the item and no need for what is stolen.
Pathological stealing
An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness.
explosive personality disorder
An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive.
Pathological firesetting
firesetting behavior
A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot.
Athlete's foot
Dermatophytosis of foot
ringworm of foot
Luxation of eye
An eye disease that involves the globe of the eye.
disorder of thyrocalcitonin secretion
A vulva cancer that is located_in the labium minora.
malignant neoplasm of labia minora
malignant neoplasm of labium minus
malignant tumor of Labia Minora
Palsy of conjugate gaze
An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow.
A female reproductive organ cancer that is located_in the vulva.
Ca vulva
Vulvar tumor
malignant Vulvar tumor
malignant neoplasm of vulva
malignant tumor of vulva
neoplasm of vulva
vulval cancer
vulval neoplasm
vulvar neoplasm
An anemia that is characterized by a reduction in the number of red blood cells, white blood cells, and platelets.
hyperparathyroidism due to renal insufficiency
secondary hyperparathyroidism of renal origin
A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding.
postpartum coagulation defect
postpartum coagulation defect with delivery
A parasitic helminthiasis infectious disease that involves infection of the intestine, liver and lungs caused by Capillaria species.
Capillaria infection
hyperEMIA eye
hyperemia of conjunctiva
Vagus nerve disorder
disorder of pneumogastric [10th] nerve
disorder of vagal nerve
disorder of vagus nerve
A vaginal benign neoplasm that is a benign tumor of smooth muscle cells.
leiomyoma of vagina
A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve).
Bell palsy
Bell's (facial) palsy
An urogenital tuberculosis that is located_in epididymis, has_symptom pain and has_symptom scrotal swelling.
An ischemia that is characterized by restriction in blood supply to the retina.
Retinal break
Retinal dialysis
Retinal tear
A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation.
Infection by Trichuris trichura
Trichuriasis infection
Whipworm disease
trichuris trichiura infection
An extrinsic allergic alveolitis that is an industrial disease characterized by cough, difficult breathing, chills, fever, and prolonged weakness caused by the inhalation of the dust of bagasse containing thermophilic actinomycetes.
sugar cane worker pneumonitis
Lesion of plantar nerve
A blood coagulation disease that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion.
vascular hemophilia
vascular pseudohemophilia
von Willebrand disease
von Willebrand disorder
von Willebrand's-Jurgens' disease
von Willebrand-Jrgens disease
Coccygeal hypermobility syndrome
hypermobility of the coccyx
A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia.
Infection by Trichostrongylus
Infection by Trichostrongylus species
Trichostrongyliasis
A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.
Viral hepatitis, type A
Viral hepatitis A
A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea.
Hepatocerebral intoxication
A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs.
haemolytic-uraemic syndrome
hemolytic uremic syndrome
An acute kidney failure that is characterized by necrosis of epithelial tubule cells.
ATN - acute tubular necrosis
acute renal Failure with tubular necrosis
acute renal failure with lesion of tubular necrosis
acute tubular necrosis
acute tubule necrosis
Duane's syndrome
Stilling-Turk-Duane syndrome
progressive external ophthalmoplegia
chronic progressive external ophthalmoplegia
An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis.
Idiopathic osteoporosis
juvenile osteoporosis
A vulvar disease that is characterized by the presence of ulcers.
A learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page.
Mathematics disorder
disorder of arithmetical skills
A phacogenic glaucoma that is characterized by acute onset of open-angle glaucoma secondary to a leaking mature or hypermature cataract and has_symptom chronic progressive vision loss with acute onset of pain, redness, and blurry vision. Phacolytic glaucomas are caused by direct obstruction of aqueous outflow pathways from leaking cataractous lens proteins.
A glaucoma characterized by glaucomatous optic atrophy secondary to a lens abnormality and has_symptom progressive decreased vision, especially decreased peripheral vision. Phacogenic glaucoma can be caused by cataracts, trauma to the eye, or age-related damage that obstructs aqueous outflow, leading to inappropriately increased intraocular pressure and eventual optic nerve atrophy with associated vision loss.
Uveitis, posterior
Obstruction of urethra
A syndrome that has_material_basis_in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat.
5p deletion syndrome
5p partial monosomy syndrome
chromosome 5 short arm deletion syndrome
chromosome 5p deletion syndrome
Bursitis of elbow
Bursitis of elbow region
Capped elbow
Elbow bursitis
Miner's elbow
Miners' elbow
Shoe boil
A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations.
Shprintzen syndrome
VCF-Velocardiofacial syndrome
A renal agenesis characterized by the typical physical appearance and associated pulmonary hypoplasia of a newborn as a direct result of kidney failure, oligohydramnios and compression while in the uterus.
Potter sequence
Potter syndrome
pelvic cellulitis
A lymphoid leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity producing large numbers of white blood cells to be produced and enter the blood stream.
Stem cell Leukemia
Stem cell leukaemia
A prolapse of the female genital organ that is characterized by an isolated central defect and herniation of the posterior perineum in patients without diffuse vaginal prolapse.
A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting.
congenital hypertrophic pyloric stenosis
congenital or infantile stricture of pylorus
Congenital hiatus hernia
displacement of cardia through esophageal hiatus
Diaphragmatic - hiatus -hernia
hiatal hernia
acoustic nerve disease
Ankylosis of teeth
Ankylosis of tooth
A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis.
Mucocutaneous-lymphangitic paracoccidioidomycosis
paracoccidioidal mycosis
A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening.
Blastomyces Dermatitidis Infection
Blastomycotic infection
Chicago disease
Gilchrist's disease
Infection by Blastomyces dermatitidis
North American blastomycosis
simultaneous visual perception without fusion
A brain disease that is characterized by damage to neurons of the corticobulbar tract, has_symptom dysarthria, has_symptom dysphagia, has_symptom spasticity located_in tongue, has_symptom gag reflex, and has_symptom emotional outbursts.
pseudobulbar paralysis
A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent.
Epidemic neurolabyrinthitis
Vestibular neuritis
A communication disorder that involves both the receptive and expressive areas of communication may be affected in any degree, from mild to severe.
mixed receptive-expressive language disorder
Vestibular Neurilemmoma
Vestibular schwannoma
A nervous system disease that is characterized by complete paralysis of all voluntary muscles except for the ones that control the movements of the eyes.
Locked in syndrome
Locked-in state
A disorder of sexual development that is characterized by enlargement or swelling of male breast tissue resulting from elevated male estrogen levels or imbalanced estrogen and testosterone levels.
A cell type benign neoplasm that is a benign tumor of smooth muscle cells.
leiomyomatous neoplasm
leiomyomatous tumor
A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins.
Osler hemorrhagic telangiectasia syndrome
Osler-Weber-Rendu disease
Rendu-Osler-Weber disease
An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood.
Chiari-Frommel syndrome
Pregnancy-related A-G syndrome
hyperprolactinaemia
An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22.
Boder-Sedgwick syndrome
Louis Bar syndrome
Friedreich ataxia 1
Friedreich's ataxia
Friedreich's tabes
Dyssynergia cerebellaris myoclonica
progressive cerebellar tremor
A vascular disease that is located_in the capillaries.
disease of capillaries
A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair.
Adding additional UMLS CUI. UMLS has piedra, black piedra and white piedra combined. DO has these as distinct diseases.
A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy).
medullary cystic disease
medullary cystic kidney
A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either EVC or EVC2 on chromosome 4p16.2.
Chondroectodermal dysplasia
mesoectodermal dysplasia
A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts.
HMD - Hyaline membrane disease
Neonatal respiratory Distress syndrome
hyaline membrane disease
pulmonary hyaline membrane disease
pulmonary hypoperfusion syndrome of newborn
respiratory distress syndrome of newborn
A chronic salpingitis that is caused by gonorrhea.
Gonococcal salpingitis
telangiectasia
An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain.
polyepiphyseal dysplasia
A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.
respiratory syncytial virus infectious disease
Posterior cyclitis
chronic cyclitis
peripheral uveoretinitis
Cementation hyperplasia
A female reproductive system disease that is characterized by the protrusion of the ovary and fallopian tube through a defect inthe abominal wall.
A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue.
malignant neoplasm of lacrimal duct
malignant tumor of lacrimal duct
Choroidal tumor
choroid neoplasm
malignant tumor of choroid
malignant tumor of the Choroid
neoplasm of choroid
A migraine that is characterized by migraine headaches that are not accompanied by an aura.
common migraine
Diabetes mellitus with polyneuropathy
Polyneuropathy in diabetes
disorder of eye movements
eye movement disorder
A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences.
A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine.
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase.
Hunter syndrome
Hunter's syndrome
MPS II - Hunter syndrome
Mucopolysaccharidosis, MPS-II
deficiency of iduronate-2-sulphatase
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase.
MPS VI - Maroteaux-Lamy syndrome
Maroteaux - Lamy syndrome
Maroteaux-Lamy syndrome
arylsulfatase B deficiency
deficiency of N-acetylgalactosamine-4-sulfatase
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain.
Mucopolysaccharidosis, MPS-III
N-sulphoglucosamine sulphohydrolase deficiency
Sanfilippo's syndrome
heparan sulfate sulfatase deficiency
naglu deficiency
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase.
Hurler syndrome
Hurler-Scheie syndrome
Lipochondrodystrophy
MPS I - Hurler syndrome
Mucopolysaccharidosis, MPS-I
Mucopolysaccharidosis, type 1
iduronidase deficiency disease
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans.
MPS VII - Sly syndrome
beta-glucuronidase deficiency
deficiency of beta-glucuronidase
mucopolysaccharidosis VII
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain.
Mucopolysaccharidosis, MPS-IV
deficiency of N-acetylgalactosamine-6-sulphatase
deficiency of chondroitinsulphatase
galactosamine-6-sulfatase deficiency
Osteochondrodystrophy
chondroosteodystrophy
chronic enlargement of lacrimal gland
A prolapse of female genital organ that is characterized by the descent of a peritoneal sac containing small bowel into the rectovagnial space causing a bulge in the posterior vaginal wall.
vaginal enterocele
tetraplegia
Involutional entropion
Thyrotoxic crisis
A female reproductive system disease that is characteried by the descent of one or more of the pelvic structures (bladder, uterus, vagina) from the normal anatomic location toward or through the vaginal opening.
A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition.
An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system.
Infectious neuronitis
Post-infectious polyneuritis
Postinfectious polyneuritis
acute infective polyneuritis
acute inflammatory demyelinating polyradiculopathy
acute postinfectious polyneuropathy
An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.
Kanner's syndrome
autism
autistic disorder of childhood onset
childhood autism
infantile autism
Achilles bursitis or tendinitis
Capped hock
Haglund's deformity
Haglund's disease
A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.
Huntington disease
Huntington's chorea
A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next.
chorea
hereditary chorea
A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.
disease of subdivision of hemolymphoid system
A somatoform disorder that involves an excessive preoccupation or worry about having a serious illness.
Hypochondria
Hypochondriacal disorder
hypochondriacal neurosis
A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia.
Fisher's syndrome
Miller-Fisher variant of Guillain-Barre syndrome
A central nervous system disease that results in the progressive deterioration of function or structure of neurons.
degenerative disease
An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.
Sicca syndrome
Sjogren syndrome
xerodermosteosis
KCS
Godwin tumor
benign lymphoepithelial lesion of salivary gland
An autoimmune disease that is characterized by chronic enlargement of the glands of the head and neck, has_symptom lumps of the face and neck, dry eyes, dry mouth, and intermittent fever, and is often associated with an underlying autoimmune disorder, hematologic malignancy, tuberculosis infection, or syphilis infection.
IgG4-related dacryoadenitis and sialadenitis
Mikulicz's disease
Mucous retention cyst of salivary gland
Ranula
Salivary Cyst
Salivary gland mucocele
Salivary gland Stone
Sialolith
Stone of salivary gland or duct
Buerger's disease
Presenile gangrene
A malaria characaterized as a relatively mild form caused by a parasite Plasmodium ovale, which is characterized by tertian chills and febrile paroxysms, and that ends spontaneously.
Malariaby Plasmodium ovale
Ovale malaria
A myiasis that involves parasitic infestation of warble flies of the genus Hypoderma, on cattle and deer and Dermatobia hominis on humans. The larvae of human botfly, Dermatobia hominis, feed in a subdermal cavity causing cutaneous swellings on the body or scalp that may produce discharges and be painful.
A myiasis that involves parasitic infestation of Cochliomyia hominivorax or Chrysomya bezziana larvae, which feed on the living tissues of warm-blooded animals. In Cochliomyia infestation, larvae migrate from the subdermis to other tissues in the body, causing extreme damage in the process. Chrysomya bezziana larvae feed and can cause permanent tissue damage.
An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers.
Elastomyofibrosis
A vulva carcinoma that is located_in the labia minora.
Labia Minora cancer
carcinoma of labia minora
An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.
primary dilated cardiomyopathy
Congestive cardiomyopathy
Familial dilated cardiomyopathy
Idiopathic dilation cardiomyopathy
African endomyocardial fibrosis
Becker's disease
Endomyocardial sclerosis
obscure African cardiomyopathy
Alcohol-induced heart muscle disease
Dilated cardiomyopathy secondary to alcohol
A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Vulvar carcinoma
carcinoma of vulva
A synostosis that results_in craniosynostosis and syndactyly.
Apert syndrome
A physical disorder that is characterized by missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand.
Poland's syndactyly
A leukemia that is characterized by the presence of abnormal white blood cells located_in peripheral blood, but in which the total number of white blood cells is normal.
A hematologic cancer located_in the central nervous system.
Leukemia of the CNS
A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape.
Congenital spherocytic hemolytic anemia
Minkowski Chauffard syndrome
spherocytic anemia
Leukemic reticuloendotheliosis involving intrapelvic lymph nodes
Leukemic reticuloendotheliosis of intrapelvic lymph nodes
intrapelvic lymph node leukemic reticuloendotheliosis
A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals.
Malaria by Plasmodium vivax
Vivax Malaria
Vagus nerve tumors
neoplasm of vagus nerve
A leukopenia that is characterized by a severe lack of of granulocytes with a drop in granulocyte concentration below 200 cells/mm³ of blood.
Granulocytopenic disorder
Granulopenia
granulocytopenia
A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated.
Dacryocystitis - acute
Carotid artery stenosis
Stenosis, carotid artery
Subclavian artery stenosis
subclavian steal phenomenon
subclavian steal steno-occlusive disease
Vertebro-basilar insufficiency
Vertebrobasilar arterial insufficiency
Vertebrobasilar artery syndrome
Mast cell malignancy of intra-abdominal lymph nodes
malignant mast cell tumors involving intra-abdominal lymph nodes
intra-abdominal lymph node mast cell malignancy
EKC
Epidemic keratoconjunctivitis
Retrolental fibroplasia
premature retinopathy
A dermatomycosis that results in infection located in skin or located in subcutaneous tissue, has_material_basis_in Lacazia loboi and has symptom crusty plaques, has symptom tumors and results in formation of nodular lesions.
Cutaneous lobomycosis
infection by Loboa loboi
Cutaneous blastomycosis
An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories.
A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia, which is transmitted_by tick or transmitted_by body louse.
A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia recurrentis, which is transmitted_by body louse (Pediculus humanus). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy.
Relapsing fever, louse-borne
A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia hermsii, has_material_basis_in Borrelia parkeri or has_material_basis_in Borrelia duttoni, which are transmitted_by soft ticks (Ornithodoros parkeri and Ornithodoros hermsii). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy.
Relapsing fever, tick-borne
Fetal circulation
Persistent fetal circulation
Persistent foetal circulation
congenital alveolar capillary dysplasia with misalignment of pulmonary veins
persistent foetal circulation syndrome
persistent pulmonary hypertension of the newborn
A sphenoid sinusitis which lasts for less than 4 weeks.
Sphenoidal sinus -acute
An ovarian cyst that arises from the accumulation of fluid in the follicle after an oocyte has been release.
A glaucoma characterized by elevated intraocular pressure secondary to ocular trauma, which leads to glaucomatous optic nerve atrophy and progressive vision loss and has_symptom progressive decreased vision, visual field defects, and decreased peripheral vision. Traumatic glaucoma is caused by ocular trauma that affects aqueous outflow, such as trauma that leads to inflammation or deposition of proteins in the trabecular network, that changes the anterior chamber angle, or that causes chronic inflammation.
Glaucoma associated with ocular trauma
renal rickets
A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior.
Keratoderma - acquired
Keratoderma, acquired
acquired keratoderma
A dermatophytosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which cause separation of the nail plate from the nail bed and has_symptom thickening of subungueal area. Sometimes, white islands are seen on the external nail plates. These gradually coalesce until the entire nail plate is involved.
Dermatophytic onychia
Dermatophytosis of nail
Onychomycosis due to dermatophyte
cellulitis and abscess of buttock
cellulitis and abscess of face
cellulitis and abscess of finger
cellulitis and abscess of finger and toe
cellulitis and abscess of gluteal region
cellulitis and abscess of trunk
cellulitis and abscess of upper arm and forearm
dermatophytic onychomycosis
cellulitis and abscess
A dermatomycosis that effects skin and subcutaneous tissue located in foot, located in trunk, located in buttocks, located in eyelids, located in lacrimal glands, located in paranasal sinuses, located in mandible, located in scalp, located in neck, located in perineum, or located in testes and has symptom sinus discharge and results in formation of nodules.
Madura foot
Maduromycosis, mycotic
Mycotic mycetoma
eumycetoma
maduromycosis
An autoimmune disease that is characterized by severe non-erosive arthropathy with ulnar deviation of the 2nd to 5th digits and metacarpophalangeal joint subluxation without evidence of synovitis, and may be associated with systemic lupus erythematosus, rheumatic fever, and ligamentous laxity.
Jaccoud syndrome
Angioma of the Subcutaneous tissue
Subcutaneous haemangioma
Subcutaneous hemangioma
A syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles.
atrial tachyarrhythmia with short PR interval
syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias
Arterial retinal branch occlusion
retinal arterial branch occlusion
Vertebral artery syndrome
An artery disease that is characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood and that has_material_basis_in compound heterozygous mutation in the CECR1 gene (ADA2) on chromosome 22q11.
Idiopathic livedo reticularis with systemic involvement
A retinal artery occlusion characterized by blockage of blood flow through the central retinal artery.
A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.
progressive intracranial arterial occlusion
A bladder benign neoplasm that derives_from smooth muscle cells.
leiomyoma of the urinary bladder
A nail disease characterized by often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate.
Infected nailfold
Onychia and paronychia of finger
Onychia and paronychia of toe
fungal nail infection
paronychia inflammation
FGS
FSGS
focal glomerular sclerosis
focal glomerulosclerosis
Anemia due to protein deficiency
protein-deficiency anaemia
deficiency anemias
A pre-eclampsia that has_symptom at least one of the following: SBP of 160mm HG or higher or DPB of 110mm HG or higher on 2 occasions at least 6 hours apart, proteinuria more than 5g in a 24-hour collection, pulmonary edema or cyanosis, oliguria, persistent headaches, epigastric pain and/or impaired liver function, thrombocytopenia, oligohydramnios, decreased fetal growth or placental abruption.
Severe pre-eclampsia, with delivery
antepartum severe pre-eclampsia
postpartum severe pre-eclampsia
severe preeclampsia
A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count.
A blepharitis that is characterized by an infection of the sebaceous glands of Zeis at the base of the eyelashes, or an infection of the apocrine sweat glands of Moll.
external stye
A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted.
HMN (Hereditary motor Neuropathy) Proximal type I
SMA1
Spinal muscular atrophy 1
hereditary motor neuropathy proximal type I
infantile muscular atrophy
progressive muscular atrophy of infancy
acute glomerulonephritis with lesion of proliferative glomerulonephritis
A uveitis characterized by inflammation and pus formation of the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid, and has_symptom pain, blurry vision, and eye redness. Suppurative uveitis is typically caused by infection, especially by bacterial infection post-operatively or post-traumatically.
An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.
A benign secondary hypertension that is characterized by chronic elevated blood pressure in the arteries supplying blood to the kidneys and has_material_basis_in renal artery stenosis.
A candidiasis that involves fungal infection of the esophagus by Candida albicans in immunocompromised people, resulting in lesions, bleeding, painful swallowing and substernal pain.
Candida Esophagitis
Candidal esophagitis
Candidiasis of the esophagus
esophageal moniliasis
esophageal thrush
A cystitis characterized by a sudden onset or severe symptoms.
A squamous cell carcinoma that is located_in the scrotum.
Scrotal squamous cell carcinoma
melanoma of scrotum
An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has symptom cough, has symptom wheezing and has symptom fever.
pulmonary aspergillus disease
malignant neoplasm of foreskin
malignant tumor of foreskin
Spermatic cord Ca
malignant tumor of spermatic cord
malignant tumor of the Spermatic Cord
An arthritis that has_material_basis_in uric acid crystal deposits located_in joint.
Articular gout
Gouty arthropathy
gouty arthritis
A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain.
BT - Brain tumour
adult brain tumor
adult malignant brain neoplasm
brain neoplasm
brain neoplasm, adult
malignant brain tumour
malignant primary brain neoplasm
malignant primary brain tumor
malignant tumor of Brain
malignant tumor of adult brain
neoplasm of brain
primary brain neoplasm
primary brain tumor
primary malignant neoplasm of brain
tumor of the Brain
Goiter, non-toxic
Goitre, non-toxic
Nodule-thyroid, non tox
Non-toxic goitre
Non-toxic simple goitre
Goiter, nodular
nodular goitre
A nutritional deficiency disease characterized by noncancerous enlargement of the thyroid gland and has_material_basis_in iodine deficiency.
Iodine-deficiency-related endemic goitre
simple goitre
Retrosternal thyroid goiter
Retrosternal thyroid goitre
substernal goitre
PDR
Non proliferative diabetic retinopathy
Non-Proliferative Diabetic Retinopathy
Right bundle branch block with left posterior fascicular block
Macular cyst or hole
Macular cyst, hole, or pseudohole of retina
Macular pseudohole retinal cyst
An uterine fibroid that is located adjacent to the lining of the uterus.
Submucous leiomyoma of uterus
An uterine benign neoplasm derived from the smooth muscle layer of the uterus.
Plexiform leiomyoma
UTERUS FIBROMA
leiomyoma of Corpus Uteri
uterine leiomyoma
A tularemia that results_in inflammation of eye and swelling of lymph glands in front of the ear.
retinal dystrophies primarily involving Bruch membrane
retinal dystrophies primarily involving Bruch's membrane
A primary bacterial infectious disease that results_in infection, has_material_basis_in Streptobacillus moniliformis, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom fever, has_symptom rash and has_symptom joint pain.
Streptobacillary fever
Streptobacillary rat-bite fever
Streptobacillosis
A respiratory system cancer that is located_in the lung.
lung neoplasm
A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis.
Adamantiades-Behcet disease
Behcet syndrome
Behet's syndrome
triple symptom complex
Behcet's syndrome
Appendicele Mucocele
A respiratory system cancer that is located_in the bronchus.
malignant neoplasm of bronchus and lung
malignant neoplasm of bronchus or lung
A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea.
diarrhea of presumed infectious origin
diarrhoea
diarrhea is both a disease and a symptom [ms]
A colonic disease characterized by the formation and inflammation of diverticula within the colon wall.
colonic diverticular disease
A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia.
Typhoid
An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.
Hematoporphyria
Porphyrinopathy
disorder of porphyrin and hem metabolism
disorder of porphyrin metabolism
Coproporphyrinogen oxidase deficiency
hereditary coproporphyria porphyria
An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue.
EPP
Protoporphyria
Erythropoietic porphyria
A bacterial pneumonia involving Klebsiella pneumoniae infection. Patients with Klebsiella pneumonia tend to cough up a characteristic sputum that is said to resemble red-currant jelly. Klebsiella pneumonia tends to affect people with underlying diseases, such as alcoholism, diabetes and chronic lung disease. The symptoms include high fever, rigors and pleuritic pain, and hemoptysis.
Pneumonia due to Klebsiella pneumoniae
Pneumonia due to Klebsiella pneumoniae (disorder)
A bacterial pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat.
Mycoplasma pneumonia
Mycoplasmal pneumonia
Pneumonia due to Eaton's agent
Pneumonia due to Mycoplasma pneumoniae
Pneumonia due to Mycoplasma pneumoniae (disorder)
cold agglutinin positive pneumonia
A viral infectious disease that results_in infection, has_material_basis_in Rift Valley fever virus, which is transmitted_by Aedes mosquitoes. The virus affects domestic animals (cattle, buffalo, sheep, goats, and camels) and humans. The infection has_symptom jaundice, has_symptom vomiting blood, has_symptom passing blood in the feces, has_symptom ecchymoses (caused by bleeding in the skin), has_symptom bleeding from the nose or gums, has_symptom menorrhagia and has_symptom bleeding from venepuncture sites.
A gastrointestinal tuberculosis that involves diffuse mucosal fold thickening, formation of ulcers and fistulae located_in intestine. The infection has_symptom abdominal pain, has_symptom gastrointestinal bleeding, has_symptom nausea and has_symptom vomiting.
tuberculosis of intestine
Crater-like optic disc holes
A vaginal benign neoplasm that presents in childhood and is considered to be of Mullerian origin.
vaginal Muellerian papilloma
An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column.
Juvenile osteochondritis of the spine
Juvenile osteochondrosis of Scheurermann
Juvenile osteochondrosis of spine
Scheuermann's kyphosis
Sherman's Disease
Scheuermann disease
A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder.
A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae.
A pancreas disease that is characterized by the inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine.
A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.
Islet cell hyperplasia
nesidioblastosis
persistent hyperinsulinemia hypoglycemia of infancy
A borderline glaucoma characterized by an anatomically narrow anterior chamber angle with or without additional clinical features and risk factors associated with high likelihood of developing glaucomatous optic atrophy in the future. These additional features may include elevated intraocular pressure, retinal nerve fiber layer abnormalities, abnormal anterior chamber angles, and/or a positive family history for glaucoma without any evidence of current optic nerve atrophy.
anatomical narrow angle borderline glaucoma
A cataract that is characterized by loss of lens transparency secondary to hyperglycemia related to diabetes mellitus.
Cataract - diabetic
Tongue papillary hypertrophy
A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur.
Toxoplasmosis - congen.
malignant neoplasm of laryngeal cartilage
malignant neoplasm of laryngeal cartilages
malignant tumor of laryngeal cartilage
Paedophilia
A sexual health disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation.
Involutional ectropion
Chondromalacia of patella
softening of articular cartilage of patella
A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.
Cutis hyperelastica
elastic skin
OMIM mapping confirmed by DO. [LS]. OMIM mapping by NeuroDevNet. [LS].
A learning disability involing difficulty reading resulting primarily from neurological factors which affect any part of the reading process.
A movement disease that is of unknown etiology characterized by progressive rigidity.
Stiff-man syndrome
stiff man syndrome
A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton mentagrophytes and results_in_formation_of subcutaneous abscesses.
Deep seated dermatophytosis
Granuloma trichophyticum
Majocchi's granuloma
A dermatophytosis that results_in fungal skin infection located_in hand, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, has_symptom burning, has_symptom cracking, and has_symptom scaling.
Dermatophytosis of hand
Tinea manus
A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted by trombiculid mites (Leptotrombidium deliense). The infection has symptom fever, has symptom headache, has symptom muscle pain, has symptom cough, has symptom maculopapular rash, has symptom eschar, has symptom splenomegaly and has symptom lymphadenopathy.
Japanese river fever
Kedani fever
Scrub mite-borne typhus
Tsutsugamushi
Tsutsugamushi disease
Chigger-borne rickettsiosis
Chigger-borne typhus
Mite-borne rickettsiosis
Mite-borne typhus
Scrub (mite-borne) typhus
Tropical typhus
Tsutsugamushi fever
Typhus fever due to Rickettsia tsutsugamushi
A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.
AAT deficiency
A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene.
Stone Man Syndrome
myositis ossificans progressiva
progressive myositis ossificans
progressive ossifying myositis
A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head.
Horton's disease
giant cell arteritis
A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels located_in body, has_symptom fever, has_symptom congestion of ocular conjunctivae, has_symptom reddening of lips, has_symptom reddening of oral cavity, has_symptom protuberance of tongue papillae and has_symptom edema of extremities.
Kawasaki's disease
MLNS
acute febrile MCLS
acute febrile mucocutaneous lymph node syndrome
mucocutaneous lymph node syndrome
A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood.
congenital dyshaematopoietic anaemia
A nutritional deficiency disease that is characterized by a decrease in red blood cells due to malabsorption of vitamin B12, has_symptom fatigue, pallor, shortness of breath, glossitis, ataxia, and/or paresthesia, has_material_basis_in atrophic gastritis, autoimmune disorder affecting the production or function of intrinsic factor, and/or genetic factors.
ANEMIA PERNICIOUS
Addison's anaemia
Biermer's anaemia
Biermer's anemia
pernicious anaemia
A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production.
Grasbeck-Imerslund syndrome
Imerslund-Grasbeck syndrome
MGA1 Norwegian type
RH-MGA1
megaloblastic anaemia
recessive hereditary megaloblastic anaemia 1
recessive hereditary megaloblastic anemia 1
IGS
An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has_material_basis_in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite.
A vulva carcinoma that is located_in the labia majora.
Labia Majora cancer
carcinoma of labia majora
A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction.
Blackfan - Diamond syndrome
chronic constitutional pure red cell anaemia
A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions.
BLINDNESS COLOR
Colour blindness
Colour vision deficiency
A vaginal cancer that has_material_basis_in glandular tissue.
Red cell hypoplasia
primary red cell aplasia
pure red cell aplasia
Cutaneous sarcoid
cutaneous sarcoidosis
A sarcoidosis that is characterized by involvement of the nervous symptom with cranial nerve palsy, diffuse meningeal disease, acute polyneuropathy, myelitis, or hypothalamic pituitary axis malformation, develops_from a type IV hypersensitivity reaction with noncaseating granulomas involving the nervous system.
cerebral sarcoidosis
A sarcoidosis that is characterized by unilateral facial nerve palsy, parotid gland enlargement, anterior uveitis, and low grade fever, and develops_from a type IV hypersensitivity reaction with noncaseating granulomatous infiltration of especially the parotid glands which compresses the facial nerve.
Heerfordt's syndrome
A sarcoidosis that is characterized by conduction abnormalities, arrhythmias, and congestive heart failure with noncaseating granulomas present on endomyocardial biopsy, and develops_from a type IV hypersensitivity reaction with noncaseating granulomas infiltrating the myocardial tissue, especially that of the left ventricle.
A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.
lung Sarcoidosis
A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood.
Portal-systemic encephalopathy
An agnosia that is a loss of the ability to recognize text.
Aphemesthaesia
acquired dyslexia
congenital aplastic anaemia
congenital aplastic anemia
congenital hypoplastic anaemia
Constitutional aplastic anaemia
Non-Gonococcal Urethritis
Nongonococcal urethritis
A primary bacterial infectious disease that results in infection located in mucosa of mouth, located in skin or located in bone, has_material_basis_in Treponema pallidum subsp endemicum, which is transmitted by contact or transmitted by sharing of domestic utensils. The infection has symptom moist patches in the mouth, has symptom lumps in long bones, tissues around the mouth, nose, and roof of the mouth. These lumps destroy tissue, causing bones to be deformed and disfiguring the face.
Njovera
Nonvenereal endemic syphilis
A primary bacterial infectious disease that results in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has symptom fever, has symptom chills, has symptom sweating, has symptom muscle aches, has symptom chest pain, has symptom muscle tightness, has symptom headache, has symptom mucopurulent nasal discharge, and has symptom nodular lesions in the lungs.
Farcy pipes
Infection due to Pseudomonas mallei
Argentous corneal deposits
Argyrosis of cornea
Posterior corneal pigmentations
A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules.
primary extrapulmonary coccidioidomycosis
Gonococcal synovitis &/or tenosynovitis
Gonococcal synovitis and tenosynovitis
Gonococcal synovitis or tenosynovitis
Intrinsic (urethral) sphincter deficiency [ISD]
A progressive peripheral pterygium that is characterized by progressive fleshy outpouching of conjunctival growth that has grown to involve the visual axis and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Central pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Central pterygiums progress from pinguecula.
A conjunctival pterygium that is characterized by progressive (as opposed to quiescent) fleshy outpouching of conjunctival growth and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Progressive peripheral pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Progressive peripheral pterygiums progress from pinguecula.
Ca larynx - supraglottis
malignant Supraglottic tumor
malignant neoplasm of extrinsic larynx
malignant neoplasm of supraglottis
malignant tumor of supraglottis
supraglottis
A balantitis characterized by white plaques or patches on genitals.
Penile Lichen Sclerosus
An osteochondrodysplasia that results_in short arms and legs with excess folds of skin.
A PTEN hamartoma tumor syndrome that is characterized by overgrowth of the bones, skin, and other tissues.
Wiedemann's syndrome
A pervasive developmental disorder that is a rare condition characterized by late onset (greater than 3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress.
Disintegrative psychosis
Heller's syndrome
Symbiotic psychosis
Cochleovestibular active Mnire's disease
active Meniere's disease, cochleovestibular
active cochleovestibular Meniere disease
active cochleovestibular Meniere's disease
Vestibular active Mnire's disease
active Meniere's disease, vestibular
active vestibular Meniere disease
Cochlear active Mnire's disease
active Meniere's disease, cochlear
active cochlear Meniere disease
malignant neoplasm of jejunum
malignant tumor of jejunum
A vaginal benign neoplasm that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components.
neoplasm of accessory sinus
tumor of Accessory sinus
Overgrowth of filiform papillae
A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s).
Moebius congenital oculofacial paralysis
Oromandibular-limb hypogenesis spectrum
Venous tributary (branch) occlusion of retina
Venous tributary branch occlusion of retina
A syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body.
Bourneville's disease
Epiloia
Tuberose sclerosis
Tuberous sclerosis syndrome
cerebral sclerosis
disorder of nasal sinus
A tetanus that occurs in newborn babies when the birth cord stump gets dirty through cutting it with an unclean blade or applying substances containing bacteria to it. The infection has symptom stiff body, has symptom muscle spasms, has symptom difficulty in breathing, and has symptom exhaustion.
neonatal tetanus
A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis.
An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones.
Albers-Schonberg disease
marble bone
A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma.
Suppurative labyrinthitis
bacterial labyrinthitis
acute suppurative labyrinthitis
Corneal Epidermoid carcinoma
A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body.
An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision.
Normal tension glaucoma
Symptomatic parkinsonism
disorder presenting primarily with parkinsonism
secondary parkinsonism
A primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elevated threatening optic nerve damage and visual field loss; but that typically resolves spontaneously after several hours, even though it may recur. Interval angle-closure glaucoma has_symptom sudden pain, redness, headache, and blurry vision with haloes around lights that resolves spontaneously. Interval angle-closure glaucoma can be caused by exacerbation of chronic primary angle-closure glaucoma, typically by a medication or state that dilates the eyes and thus narrows the anterior chamber angle, blocking any aqueous outflow.
Angle-closure glaucoma, subacute
Intermittent angle-closure glaucoma
Prodromal angle closure glaucoma
Lymphoma of Accessory sinus
lymphoma of paranasal sinus
A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.
ACG - Angle-closure glaucoma
Angle Closure Glaucoma
Closed angle glaucoma
Narrow cleft glaucoma
primary open-angle glaucoma with narrow angles
An uterine fibroid that is located adjacent to the outside of the uterus.
subserous leiomyoma of uterus
Drusen of optic disc
optic nerve head drusen
An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.
Infection due to Aspergillus
An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion.
malignant neoplasm of antrum
malignant tumor of the maxillary sinus
A senile cataract that is characterized by opacification of the lens cortex, caused by dehydration of lens fibers, and is related to aging.
Fetal blood loss from fetal hemorrhage into co-twin
Fetal hemorrhage into co-twin
Twin to twin transfusion
Twin-to-twin blood transfer
A protein-energy malnutrition that is characterized by severe lack of protein and edema or anasarca, has_symptom swelling, gastrointestinal upset, dehydration, thin dry skin, and cough, and has_material_basis_in severe deficit of protein, resulting in lack of albumin causing decreased oncotic pressure in the vasculature and increased activation of the renin-angiotensin axis and antidiuretic hormone.
Kwashiokor
Nutritional edema with dyspigmentation of skin and hair
Nutritional oedema with dyspigmentation of skin and/or hair
neoplasm of maxillary sinus
tumor of Maxillofacial sinus
A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.
Obstruction of bile duct
bile occlusion
Alveolitis of jaw
Dry socket
Dry tooth socket
A uterine disease that is characterized by an inability to get pregnant despite having carefully timed, unprotected sex for one year.
Infertility, female, of uterine origin
A pre-eclampsia characterized by the presence of seizures.
Eclampsia in puerperium
Eclampsia, postpartum
Postpartum eclampsia
A vaginal carcinoma that has_material_basis_in connective tissue.
malignant vaginal mixed epithelial and mesenchymal tumor
vaginal malignant mixed Mullerian tumor
vaginal malignant mixed mesodermal (mullerian) tumor
vaginal mixed epithelial and mesenchymal tumor
malignant neoplasm of frontal sinus
malignant tumor of frontal sinus
malignant tumor of the Frontal sinus
A cholestasis characterized by yellowish pigmentation of the skin and sclera due to high bilirubin levels resulting from biliary tract obstruction.
Cholestatic Jaundice
Cholestatic jaundice syndrome
Obstructive hyperbilirubinemia
A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.
Atresia of bile duct
Congenital biliary atresia
biliary atresia, congenital
neoplasm of frontal sinus
tumor of the Frontal sinus
A cholestasis resulting from causes located_in bile ducts outside the liver.
extrahepatic biliary Stasis
extrahepatic obstructive biliary disease
A sarcoma and malignant tumor of nasal sinuses that is located_in the paranasal sinus.
sarcoma of Accessory sinus
Atrial septal defect within oval fossa
Defect, Patent or persistent, ostium secundum
Ostium secundum type atrial septal defect
Persistent ostium secundum
foramen ovale patent
A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever.
A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans.
malignant neoplasm of ethmoidal sinus
malignant tumor of ethmoid sinus
malignant tumor of ethmoidal sinus
A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.
Fanconi anaemia
Fanconi pancytopenia
Fanconi panmyelopathy
Fanconi's anaemia
Fanconi's anemia
Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS].
neoplasm of ethmoidal sinus
tumor of ethmoidal sinus
A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures.
Pseudoexfoliation glaucoma
Pseudoexfoliation syndrome
polyneuropathy in collagen vascular disease
Stenosis of lacrimal canaliculi
Stenosis of nasolacrimal duct, acquired
Tear duct - acquired stenosis
acquired nasolacrimal duct stenosis
acquired stenosis of nasolacrimal duct
anal and rectal ulcer
Encephalitis following immunization procedures
Postvaccinal encephalomyelitis
A syndrome characterized by synovitis, acne, pustulosis, hyperostosis and osteitis.
Synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome
Prostatic lithiasis
Prostatic stone
Stone of prostate
calculus of prostate
An acute cystitis that is caused by gonorrhea.
Gonococcal cystitis
acute gonorrhea of bladder
A dermoid cyst that is located_in the skin.
skin Dermoid
A vaginal benign neoplasm that is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium.
squamous papilloma of vagina
An uterine benign neoplasm that is characterized by the formation of gland-like structures, arises from the uterine serosa and myometrium, and has_material_basis_in the mesothelium.
uterine corpus adenomatoid tumour
uterine corpus localised epithelial Mesothelioma
uterine corpus localized epithelial Mesothelioma
A tooth disease characterized by enamel discoloration resulting from excess fluoride ingestion during tooth formation.
Intrinsic enamel discolouration of fluorosis
Mottled teeth
Mottling of enamel
A tooth disease that is characterized by complete absence of permanent teeth.
Complete absence of teeth
Developmental absence of tooth
Total anodontia of permanent and deciduous teeth
A senile cataract that is characterized by full white or brunescent opacification of the lens of the eye such that the red reflex is obscured. It is a later stage of senile cataracts and is caused by a multifactorial etiology related to aging.
Total or mature cataract
Total, mature senile cataract
A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure.
A nutritional deficiency disease that is characterized by vitamin C (ascorbic acid) deficiency and has_symptom fatigue, weakness, anemia, petechiae, corkscrew hair, gingivitis, and poor wound healing.
A thiamine deficiency disease that is characterized by being severe and chronic.
An uterine benign neoplasm that has_material_basis_in cells reminiscent of proliferative phase endometrial stroma.
A uterine disease that is characterized by inflammation.
Inflammatory disease of the uterus
infarct of liver
chronic passive congestion of liver
A central nervous system lipoma that is characterized by abnormal fat accumulation in and around the spinal cord.
Lipoma of spinal cord
urinary tract infection of newborn
neonatal urinary tract infectious disease
Epiphora
Excessive tear production
Watering eye
A lice infestation that involves parasitic infestation by pubic lice Pthirus pubis, which are found in the pubic hair, less commonly in eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk and scalp. The symptoms include itching in the pubic and groin area. Intense itching leads to scratching which can cause sores and secondary bacterial infection of the skin.
Infestation by Phthirus pubis
Pediculosis Pubis
Pediculus pubis
Phthiriasis pubis
Phthirus pubis
Phthirus/pediculus pubis - pubic lice - crabs
crabs
A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop.
Oriental liver fluke disease
A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma.
Infection by Opisthorchis
An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands.
Addison disease
Addison disease, chronic adrenal insufficiency
HYPOADRENOCORTICISM, FAMILIAL
primary adrenocortical insufficiency
primary hypoadrenalism
A viral infectious disease that results_in benign epithelial tumors located_in skin of the sole or toes of the foot, has_material_basis_in human papillomavirus (types 1, 2, 4 or 63), has_symptom lesions that appear on the sole of the foot.
Verruca plantaris
A primary immunodeficiency disease that results_in skin squamous cell carcinoma located_in skin, associated with a high risk of carcinoma. It is characterized by abnormal susceptibility to human papillomaviruses of the skin and has_symptom lesions on the body.
A primary bacterial infectious disease that is a sexually transmitted infection located in skin of the genitals, has_material_basis_in Haemophilus ducreyi, which is transmitted by sexual contact. The infection has symptom painful and soft ulcers.
Ulcus molle, skin
benign joint hypermobility
Anterior staphyloma, localised
Anterior staphyloma, localized
localised anterior staphyloma
acute myringitis
A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection.
Bullous myringitis
A female breast cancer that is located_in the center of the breast.
malignant neoplasm of central part of female breast
malignant neoplasm of central portion of female breast
A vaginal cancer that has_material_basis_in squamous tissue.
A uterine cancer that is located_in tissues lining the uterus.
endometrial Ca
endometrial neoplasm
malignant endometrial neoplasm
malignant neoplasm of endometrium
neoplasm of endometrium
primary malignant neoplasm of endometrium
tumor of Endometrium
A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus.
Chlamydial conjunctivitis
Inclusion blennorrhoea
adult inclusion conjunctivitis
inclusion blenorrhea
Paratrachoma
A viral infectious disease that results in infection located in pharynx or located in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted by droplet spread of respiratory secretions or transmitted by fomites. The infection has symptom fever, has symptom lymphadenopathy of the neck, and has symptom headache.
Adenoviral pharyngoconjunctivitis
pharyngo-conjunctival fever
familial multiple lipoprotein-type hyperlipidemia
hyperbetalipoproteinemia with prebetalipoproteinemia
mixed hyperlipidaemia
type IIb hyperlipoproteinemia
A sweat gland disease that is characterized by dilatation of the follicular infundibulum with hyperkeratosis, acanthosis, and spongiosis with perifollicular inflammation leading to hair loss and has_symptom flesh colored papules with hair loss and pruritis, especially of the axilla.
Fox Fordyce disease
A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.
Fredrickson type IIa hyperlipoproteinemia
Fredrickson type IIa lipidaemia
familial hyperbetalipoproteinaemia
familial hypercholesteremia
hyperbetalipoproteinemia
type II hyperlipidemia
A uterine disease that is characterized by the inability of the uterus to return to its pre-gestational size after pregnancy.
A uterine disease that is characterized by the presence of scar tissue which attaches the uterus to another structure.
Band of uterus
Intrauterine adhesions
Intrauterine synechiae
A glossopharyngeal nerve disease that is located_in the hypoglossal nerve (twelfth cranial nerve).
disorder of 12th nerve
disorder of XII nerve
disorder of hypoglossal [12th] nerve
disorder of hypoglossal nerve
A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis.
Climatic or tropical bubo
Durand-Nicolas-Favre disease
Lymphogranuloma inguinale
Poradenitis inguinale
Strumous bubo
A sweat gland disease that is characterized by blocked eccrine sweat glands and ducts.
eccrine miliaria
heat rash
sweat rash
Hypocalcaemic cataract
Parasitic infestation of eyelid
A skin disease located_in the sweat glands.
Patent ductus Botalli
ductus arteriosus, Patent
A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS.
familial hypobetalipoproteinemia
microsomal triglyceride transfer protein deficiency disease
A scleritis that is characterized by inflammation of the anterior sclera and subsequent inflammation of the adjacent cornea and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Scleroperikeratitis may progress to sclerosing keratitis, which occurs when the inflammation leads to opacification of the anterior corneal stroma and subsequent vision loss. Scleroperikeratitis is caused by severe anterior scleritis that causes inflammation and injury to the adjacent corneal layer. Anterior scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection.
Scleritis with corneal involvement
A primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elevated threatening futher optic nerve damage and visual field loss. Acute closed-angle glaucoma has_symptom sudden pain, redness, headache, and blurry vision with haloes around lights. Acute closed-angle glaucoma can be caused by exacerbation of chronic primary angle-closure glaucoma, typically by a medication or state that dilates the eyes and thus narrows the anterior chamber angle, blocking any aqueous outflow.
acute angle-closure glaucoma
Superior oblique muscle innervation disorder
Trochlear nerve disorder
disorder of trochlear nerve
Multiple cranial nerve palsies
A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma.
Circumscribed labyrinthitis
Lack or loss of sexual desire
A lipid metabolism disorder that is characterized by unusually low levels of fats in the blood.
Hypolipoproteinaemia
Lipoprotein deficiencies
A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31.
familial alpha-lipoprotein deficiency
familial high density lipoprotein deficiency
sinus node infection
A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain.
An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen.
Avian hypersensitivity Pneumonitis
Bird-fancier's lung
Bird-fanciers' lung
bird breeder's lung
bird fancier lung
pigeon breeder's lung
poultry worker's lung
Epidermoid papilloma
A hypolipoproteinemia characterized by permanently low levels of apolipoprotein B and LDL cholesterol resulting from an impaired ability to absorb and transport fats.
Hypo-beta-lipoproteinemia
A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Trichosporon beigelii. Infected hairs develop soft greyish-white nodules along the shaft.
Tinea blanca
Deutan defect
Deuteranopia
Reduced red-green discrimination
LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
lecithin acyltransferase deficiency
Protan defect
Protanopia
A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance.
ACHM
Monochromatism
acquired color vision deficiencies
acquired color vision deficiency
acquired colour blindness
acquired colour vision deficiencies
acquired colour vision deficiency
Lumbosacral plexus lesions
A somatoform disorder that involves persistently complaints of varied physical symptoms that have no identifiable physical origin.
Briquet's disorder
Somatisation disorder
Polysomatising disorder
An esophagitis characterized by inflammation involving eosinophils located_in esophagus.
ANUG
Angina - Vincents
Vincent angina
Vincent's angina
Vincent's angina - pharyngitis
Vincent's disease
Vincent's infection, any site
acute necrotising ulcerative gingivitis
acute necrotising ulcerative gingivostomatitis
acute necrotizing ulcerative gingivitis
acute necrotizing ulcerative gingivostomatitis
acute ulceromembranous gingivitis
early acute necrotising gingivitis
trench mouth
Blocked lacrimal canaliculus
Obstruction of lacrimal canaliculus
Obstruction of lacrimal ducts
An eye disease that affects the neural pathway from the optic nerve to the visual cortex, through which light is interpreted as an image.
Facial Palsy
A female reproductive system disease that is characterized by the absence of menstruation.
absence of menstruation
amenia
A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer.
Schistosoma Hematobium Infection
Schistosoma haematobium
Schistosoma hematobium infectious disease
Schistosomiasis due to schistosoma haematobium
Schistosomiasis of bladder
Vesical schistosomiasis
bladder Schistosomiasis
cystitis with bilharziasis
Schistosoma haematobium infection
A peripheral vertigo that is characterized by episodic vertigo followed by gait imbalance and oscillopsia with profound bilateral vestibular loss despite normal hearing.
benign paroxysmal positional nystagmus
Gonococcal salpingitis, specified as acute
Gonococcal prostatitis
A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment.
cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
hereditary multi-infarct dementia
Obstruction of bladder neck or vesicourethral orifice
ulcerative cystitis
A parasitic helminthiasis infectious disease that involves infection of the intestine, urinary tract, skin, liver and spleen caused by multiple species of the trematode fluke of the genus Schistosoma. The symptoms include fever, chills, nausea, abdominal pain, diarrhea, malaise, myalgia, liver and spleen enlargement, rash and hematuria.
An uterine fibroid that is characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm as well as the absence of prominent nuclear atypia, tumor cell necrosis and mitotic figures.
A uterine fibroid that is characterized by the presence of intramural tearing.
An uterine fibroid that is located within the myometrium.
Intramural leiomyoma of uterus
An uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels, but do no infiltrative and the absence of atypia or mitotic activity.
An uterine fibroid that is characterized by the presence of adipocytes.
An uterine benign neoplasm that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures and has_material_basis_in smooth muscle cells.
uterine Corpus Symplastic leiomyoma
A senile cataract that is characterized by opacification of the lens nucleus and caused by changes related to aging.
Senile nuclear cataract
Senile nuclear sclerosis
A senile cataract that is characterized by dense white opacification of the lens and milky fluid in the lens capsule such that the dense nucleus of the lens sinks in the surrounding fluid. It is the late stage of senile cataracts and is caused by a multifactorial etiology related to aging.
hypermature cataract
chronic inflammation of orbit
A female breast cancer that is located_in the lower-outer qudrant of the breast.
malignant neoplasm of lower-outer quadrant of female breast
female breast lower-outer quadrant cancer
Peptic reflux disease
Reflux oesophagitis
reflux esophagitis
A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host.
Ectoparasitic disease
parasitemia
An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull.
Marie-Sainton Disease
cleidocranial dysostosis
small intestinal Lymphoma
An eye disease that affects the lacrimal apparatus (the lacrimal gland and its related structures) which moisten and drain the eye.
An aortic aneurysm that is located_in the thoracic aorta.
Alcoholic Cirrhosis
Alcoholic cirrhosis of liver
Laennec's cirrhosis
Laennec's cirrhosis, alcoholic
Portal cirrhosis
A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has_symptom fever, has_symptom sweats, has_symptom weakness, has_symptom weight loss, has_symptom headache, has_symptom lymphadenopathy and has_symptom splenomegaly.
Costalchondritis
Costochondral junction syndrome
Costochondritis
Slipping rib syndrome
Tietze's disease
Tietze syndrome
A nutritional deficiency disease that is characterized by a decrease in red blood cells due to lack of folate, has_material_basis_in insufficient folic acid in diet, hemolytic anemia, alcoholism, and/or certain medicines.
Folate deficiency anaemia
Folate deficiency anemia
Folate-deficiency anaemia
Folate-deficiency anemia
Folate-deficient megaloblastic anaemia
folic acid deficiency anaemia
primary malignant neoplasm of parietal pleura
primary malignant neoplasm of visceral pleura
An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta.
Atresia and stenosis of aorta
Congenital atresia and stenosis of aorta
A blood protein disease that is characterized by polyneuropathy, oranomegaly, endocrinopathy, monoclonal gammopathy, and skin changes, especially hyperpigmentation.
Residual stage of angle-closure glaucoma
An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.
Autoimmune polyglandular failure
Lloyd's syndrome
autoimmune polyendocrinopathy
A bipolar disorder that is characterized by at least one manic or mixed episode.
A primary systemic mycosis located_in subcutaneous tissues, located_in brain, located_in sinuses, located_in lungs, or located_in peritoneal cavity, has_material_basis_in Exophiala dermatitidis, has_material_basis_in Phialophora, has_material_basis_in Curvularia hawaiiensis, has_material_basis_in Exserohilum, has_material_basis_in Cladophialophora bantiana, has_material_basis_in Phaeoannellomyces, has_material_basis_in Aureobasidium, has_material_basis_in Cladosporium cladosporoides, has_material_basis_in Alternaria or has_material_basis_in Rhinocladiella mackenziei and results_in_formation_of subcutaneous abscesses arising at the site of minor trauma, and occur in both immunosuppressed and immunocompetent individuals.
Infection by dematiacious fungi
phaehyphomycosis
An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component.
primary Angle Closure Glaucoma
A female reproductive organ cancer that is located_in the paraurethral glands.
malignant tumor of paraurethral gland
malignant tumor of the Paraurethral gland
Post-Streptococcal Glomerulonephritis
acute poststreptococcal glomerulonephritis
acute Diffuse Glomerulonephritis
A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever.
Malaria fever, subtertian
falciparum malaria
malignant tertian fever
A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax.
Black water fever
Hemoglobinuric, malaria
Malarial Hemoglobinuria
A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species.
Malarial encephalitis
Nystagmus associated with disorder of the vestibular system
A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic.
A bone inflammation disease that results_in inflammation located_in epicondyle.
Lateral epicondylitis
andrel epicondylitis
archer's elbow
golfer's elbow
hockey elbow
medial epicondylitis
shooter's elbow
tennis elbow
Cementum caries
Dental caries of root surface
Atherosclerosis of renal artery
renal atherosclerosis
A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities.
African tick typhus
Rickettsia conorii spotted fever
South African tick-bite fever
kenya tick typhus
marseilles fever
Boutonneuse disease
Conor and Bruch's disease
Kenya fever
Kenyan tick typhus
Mediterranean spotted fever
Mediterranean tick fever
Infertility due to extratesticular causes
infertility due to extratesticular cause
acquired hypertrophic pyloric stenosis
adult hypertrophic pyloric stenosis
Radial styloid tenosynovitis
Tenosynovitis, de Quervain's
A large intestine cancer that is located_in the anus.
anal cancer
malignant anal tumor
Persistent tuberculum impar
A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus , which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.
TSS
toxic shock
LIPODYSTROPHY, CEPHALOTHORACIC
LIPOMATOSIS, FAMILIAL BENIGN CERVICAL
Launois-Bensaude's lipomatosis
Madelung's neck
cervical Symmetrical Lipomatosis
multiple symmetrical lipomatosis
A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides.
Fredrickson type I hyperlipoproteinemia
Fredrickson type I lipaemia
familial LPL deficiency
familial chylomicronemia syndrome
familial hyperlipoproteinemia type I
hypercholesterinaemic xanthomatosis
hyperchylomicronemia
mixed hyperglyceridemia
A urinary system disease which consists of the presence of bacteria in urine.
VIth Cranial nerve tumors
neoplasm of abducens nerve
A prolapse of the female genital organ that is characterized by the descent of the bladder causing a bulge in the anterolateral vaginal walls.
A prolapse of the female genital organ that is characterized by the descent of the bladder causing a bulge in the midline anterior vaginal wall.
A female reproductive system disease that is characterized by an excessively mobile uterus secondary to lacerations of the broad and cardinal ligaments, specific tenderness with movement of the cervix and previous untoward obstetrics events, such as premature maternal voluntary efforts, precipate delivery, and forceps delivery.
Broad ligament laceration syndrome
Lymphoma of anus
An ovarian disease that is characterized by irregular or absent ovulation.
anal melanoma
malignant melanoma of anus
An ureteral disease this is characterized by the formation of stoney concentrations in the ureter.
Ureteric calculus
Ureteric stone
calculus of ureter
Gyrate atrophy of the choroid and/or retina
Ornithinemia with gyrate atrophy
gyrate atrophy of the retina
A spinal cancer that is located_in the spinal cord and derives_from lymphocytes.
Lymphoma of the Spinal Cord
spinal cord cancer
melanoma of the Spinal Cord
sarcoma of the Spinal Cord
Retrobulbar neuritis
hyperactive bilateral labyrinthine dysfunction
hyperactive labyrinth, bilateral
An uveal disease that is located_in the choroid.
Congestive rheumatic heart failure
Rheumatic heart failure
Neurolipocytoma
Hippel Lindau syndrome
von Hippel-Lindau syndrome
A dysgammaglobulinemia that is characterized by isolated deficiency of an IgG subclass, normal total IgG levels, and subsequent increased susceptibility to recurrent infections, atopic disease, and autoimmune conditions.
Immunoglobin G subclass deficiency
Selective IgG Immunodeficiency
Selective Immunoglobulin G Subclass deficiency
Selective deficiency of IgG
Selective immunoglobulin G deficiency
Congenital hypogammaglobulinaemia
An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement.
BTK deficiency
Bruton agammaglobulinemia tyrosine kinase deficiency
Bruton's Sex-Linked Agammaglobulinemia
Bruton's agammaglobulinaemia
Bruton's type agammaglobulinemia
Bruton-type agammaglobulinemia
Alcohol-related polyneuropathy
Alcoholic polyneuropathy
A connective tissue disease characterized by restriction of both active and passive range of motion located_in the scapulohumeral joint and has_symptom pain and has_symptom restricted range of motion.
Adhesive capsulitis of shoulder
adhesions-capsulitis,shoulder
adult onset dermatomyositis
Juvenile dermatomyositis
childhood Dermatomyositis
A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in ALPL on chromosome 1p36.12.
childhood hypophosphatasia
deficiency of alkaline phosphatase
hypophospatasia, childhood
A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine.
Dihydrouracil Dehydrogenase deficiency
familial pyrimidinaemia
thymine-uracilurea
dihydropyrimidine dehydrogenase deficiency
A renal tubular transport disease characterized by excess levels of acid in the blood, due to a failure of the kidneys to appropriately acidify the urine.
An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events.
dysmetabolic syndrome X
metabolic syndrome X
A connective tissue disease characterized by bluish-brown discoloration of connective tissues that develops from the deposition of homogentisic acid and subsequent oxidation and polymerization reactions.
Calcification of trachea
A frontal sinusitis which lasts for less than 4 weeks.
A male infertility disease characterized by the absence of any measurable level of sperm in semen.
A male fertility issue defined as a low sperm concentration in the ejaculate.
A scleral disease that is characterized by a painless severe necrotizing scleritis where the sclera is white, avascular, and thin. The choroid can become exposed leading to infarction and necrosis of related areas; the sclera can also thin such that the dark uvea protrudes through the front of the eye, forming a staphyloma which has_symptom loss of vision and appearance of a dark bulge. Scleromalacia perforans is usually caused by a rare complication of autoimmune disease like rheumatoid arthritis.
A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting.
Enteric tularemia
intestinal tularaemia
A perichondritis of auricle which is persistent and long-lasting.
chronic pinna perichondritis
Cystoid macular degeneration of retina
A suppurative otitis media which is persistent and long-lasting.
chronic suppurative otitis media
A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection.
chronic atticoantral suppurative otitis media
Ureter abscess
A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.
Complete trisomy 21 syndrome
Down's syndrome
Down's syndrome - trisomy 21
Downs syndrome
G Trisomy
trisomy 21 syndrome
Vitreoretinal dystrophies
dystrophies primarily involving the retinal pigment epithelium
retinal dystrophy in systemic or cerebroretinal lipidoses
A rheumatoid arthritis that is characterized by high fevers, rash, sore throat and joint pain.
adult onset Still's disease
adult-onset Still disease
A urinary system disease that is located_in the ureter.
A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function.
FRAGILE X MENTAL RETARDATION SYNDROME
MARKER X SYNDROME
MARTIN-BELL SYNDROME
A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes.
Candidiasis of mouth
Oral moniliasis
Thrush, oral
thrush
A neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has_material_basis_in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion.
benign familial neonatal seizures
benign neonatal convulsions
A pulmonary valve disease that occurs when the pulmonary valve is not strong enough to prevent backflow into the right ventricle. If it is secondary to pulmonary hypertension it is referred to as a Graham Steell murmur.
Pulmonic insufficiency
Pulmonic valve regurgitation
pulmonary incompetence
pulmonary incompetence, non-rheumatic
pulmonary insufficiency following trauma and surgery
pulmonary regurg.
pulmonary regurgitation
fibrosing cholangitis
A vulvar disease that is characterized by the presence of atrophy and associated with decreased estrogenization.
Atrophy of vulva
Impingement syndrome of shoulder region
Subacromial impingement
A pancreas disease that is located_in the endocrine component of the pancreas, consisting of islet cells (islets of Langerhans) that create and release important hormones directly into the bloodstream.
Pachydermoperiostosis of nail
Pachydermoperiostosis syndrome
Arthropathy associated with neurological disorder
Charcot's arthropathy
Neuropathic arthropathy
Charcot's joint
An anterior scleritis that is characterized by painful inflammation and tender nodule formation of the anterior sclera and has_symptom pain, red eyes, photophobia, tearing, blurry vision, and appearance of eye surface irregularity. Nodular scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection.
A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart.
Ebstein's anomaly
Ebstein's anomaly of common atrioventricular valve
Ebstein's anomaly of right atrioventricular valve
Ebstein's anomaly of tricuspid valve
A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature.
Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome
Generalized lentiginosis
Gorlin syndrome II
Lentiginosis profusa syndrome
Moynahan syndrome
Multiple lentigines syndrome
Progressive cardiomyopathic lentiginosis
Noonan syndrome with multiple lentigines
A vulvar disease that is characterized as irregular patchy areas of thickened skin and severe itching.
Dystrophy of vulva
A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula.
Angiolymphoid Cutaneous hyperplasia
epithelioid hemangioma of skin
A pneumonia accompanied by inflammation of the pleura and accumulation of pus in the pleural space caused by bacteria.
An eye disease characterized by a lack or loss of vision.
vision impairment
vision loss
visual impairment
An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation.
A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.
Marfan's syndrome
A malaria caused by a parasite Plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals.
Malaria by Plasmodium malariae
Quartan Malaria
A malaria that involves infection with more than one species of Plasmodium at the same time.
Malaria fever by more than one parasite
malaria by more than one parasite
A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.
Parkinson disease
paralysis agitans
postencephalitic parkinsonism
An ovarian dysfunction that is characterized by a higher than normal ratio of estrogen.
hyperestrogenism
Infectious thyroiditis
acute suppurative thyroiditis
Riedel fibrosing thyroiditis
An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.
carnitine transporter deficiency
carnitine uptake defect
deficiency of plasma-membrane carnitine transporter
primary carnitine deficiency
renal carnitine transport defect
systemic primary carnitine deficiency disease
A scabies that involves infestation of human itch mite Sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied by abundant mites but only slight itching.
Crusted scabies
A cerebrum cancer that is located_in the parietal lobe.
malignant neoplasm of parietal lobe
tumor of Parietal Lobe
Pus cells in urine
A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations.
A dysentery that involves protozoan infection.
An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene.
Azorean disease
MJD
SCA3
spinocerebellar ataxia 3
spinocerebellar ataxia type 3
A capillary disease characterized by hypotension, hypoalbuminemia, and hemoconcentration resulting from fluid and protein leakage out of capillaries into surrounding tissues.
A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance.
spinocerebellar ataxia
Bilateral loss of labyrinthine reactivity
Loss of labyrinthine reactivity, bilateral
An osteochondrosis that results_in death and fracture located_in hip joint.
Calve - Perthes' disease
Coxa plana
Juvenile osteochond-hip/pelvis
Juvenile osteochondrosis of hip and/or pelvis
Perthe's disease
Perthes disease
juvenile osteochondrosis of hip and pelvis
osteochondrosis of Legg-Calve-Perthes
pseudocoxalgia
Legg-Calve-Perthes symptom
A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection.
Dracontiasis
Infection by Dracunculus medinensis
A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis.
Infection by Dipetalonema
Infection by Dipetalonema perstans
dipetalonema infectious disease
Glucagon secretion abnormality
A brain disease that is characterized by loss of structure or function of neurons, including death of neurons and loss of brain tissue.
Brain degeneration
A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections.
chronic tubotympanic suppurative otitis media
A physical urticaria induced by sweating.
A deep keratitis that is characterized by inflammation of the anterior sclera and subsequent inflammation of the adjacent cornea with opacification of the corneal stroma and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Sclerosing keratitis is caused by severe anterior scleritis that causes inflammation and injury to the adjacent corneal layer. Anterior scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection.
Sclerokeratitis
A primary angle-closure glaucoma characterized by chronic and progressive narrowing of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Chronic closed-angle glaucoma has_symptom progressive loss of peripheral vision, decreased vision, and occasionally headaches. Chronic closed-angle glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component.
Anatomical narrow angle glaucoma
chronic angle-closure glaucoma
chronic narrow angle glaucoma
A disorder of sexual development that is characterized by a progressive loss of germ cells on the developing gonads of an embryo.
Gonadal dysgenesis syndrome
A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo.
46 XY gonadal dysgenesis
Pure gonadal dysgenesis 46,XY
Swyer syndrome
The term 46,XY DSD has replaced the following terms Male pseudohermaphrodite, Undervirilization of an XY male, Undermasculinization of an XY male, Mixed gonadal dysgenesis, Partial gonadal dysgenesis. OMIM mapping confirmed by DO. [SN]. OMIM mapping confirmed by DO. [LS].
A gonadal dysgenesis that is characterized by progressive loss of primordial cells on the developing glands of an embryo, leading to extremely hypoplastic and dysfuctioning gonads resulting in one differentiated gonad and either a streak gonad or streak testis.
A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female.
ovarian dysgenesis
familial hyperkalemic periodic paralysis
Hypokalemic familial periodic paralysis
Periodic paralysis I
Westphal disease
familial hypokalemic periodic paralysis
familial periodic paralysis
periodic hypokalemic paralysis
An extrinsic allergic alveolitis which is induced by the inhalation of spores (Aspergillus sp and thermophilic actinomycetes) in dust from moldy hay or straw. It is characterized by sudden onset, fever, cough, expectoration, and breathlessness.
Farmers lung
farmer lung
A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom limb pain and has_symptom back pain.
A brucellosis that involves an infection caused by Brucella abortus [NCBITaxon:235] in cattle and humans. The disease has_symptom fever, has_symptom chills, has_symptom sweats, has_symptom weight loss, has_symptom malaise, has_symptom headaches, has_symptom myalgia, and has_symptom arthralgia.
Angioma of the orbit
Cavernous Angioma of orbit
A nervous system disease that is characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness and is associated with administration of antipsychotic and other central dopaminergic blockers.
A viral infectious disease that results in infection located in lung, has_material_basis_in Sin Nombre virus, transmitted by deer mouse (Myodes glareolus), has_material_basis_in Black Creek Canal orthohantavirus, transmitted by cotton rat (Sigmodon hispidus), has_material_basis_in Bayou virus, transmitted by marsh rice rat (Oryzomys palustris), has_material_basis_in Laguna Negra virus, transmitted by small vesper mouse (Calomys laucha), or has_material_basis_in Andes virus, transmitted by rice rat (Oligoryzomys longicaudatus). The infection has _symptom fever, muscle pain, headache, cough, vomiting, and chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications.
A pemphigoid that is characterized by erythematous papules, vesicles, and plaques around the trunk and extremities that develop during pregnancy, particularly during the second and third trimesters, has_symptom pruritis, and has_material_basis_in autoantibodies to the basement membrane, which triggers a complement cascade and attracts eosinophils to the subepidermis.
Gestational herpes
herpes gestationis
A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation.
lymphoma of ureter
regional Ureteric carcinoma
regional malignant ureteral tumor
Dumping (jejunal) syndrome
Jejunal syndrome
Acid esterase deficiency
Acid lipase deficiency
Wolman xanthomatosis
Wolman's disease
Wolman's or triglyceride storage type III disease
Xanthomatosis, familial
Lipid proteinosis
URBACH-WIETHE DISEASE
A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.
Alpha-galactosidase A deficiency
Angiokeratoma Corporis Diffusum
Fabry's disease
alpha galactosidase deficiency
deficiency of melibiase
A-fucosidase deficiency
alpha fucosidase deficiency
A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11.
FALDH deficiency
SLS
Sjogren Larsson syndrome
Sjogren-Larsson's syndrome
fatty acid alcohol oxidoreductase deficiency
hereditary ceroid lipofuscinosis
A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.
Sphingomyelinase Deficiency Disease
lipoid histiocytosis
sphingomyelin lipidosis
peripheral degenerations of cornea
A candidiasis that results_in fungal infection of the outer-most layer located_in nail, has_material_basis_in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury.
candidiasis of skin
candidiasis of skin and nails
A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes.
11p partial monosomy syndrome
Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome
chromosome 11p13 deletion syndrome
Retinal partial arterial occlusion
partial retinal arterial occlusion
An abnormal pupillary function characterized by a small pupil, the absence of a pupillary light reflex and the retention of a normal pupillary near response.
Argyll Robertson phenomenon or pupil, nonsyphilitic
Argyll Robertson pupil, atypical
Atypical Argyll-Robertson pupil
Senile brain degen.
A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use.
Reye's syndrome
Atrophy of tongue papillae
Glossitis, Hunter's
Hunter's glossitis
smooth atrophic tongue
MPNST of Heart
malignant cardiac peripheral nerve sheath neoplasm
malignant cardiac germ cell tumour
malignant germ cell tumor of the Heart
malignant germ cell tumour of the Heart
A rete testis neoplasm that derives_from epithelial cells of glandular origin.
adenocarcinoma of the rete testis
adenocarcinoma of rete testis
A male reproductive organ cancer that derives_from epithelial cells of glandular origin.
malignant tumor of Sphenoidal sinus
malignant tumor of sphenoid sinus
A squamous cell carcinoma that is located_in the sphenoid sinus.
Epidermoid carcinoma of the Sphenoidal sinus
Borderline glaucoma steroid responder
Steroid responders borderline glaucoma
An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface.
Glossitis areata exfoliativa
Pityriasis linguae
benign migratory glossitis
A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling.
Idiopathic pulmonary arterial hypertension
A disease that is characterized by abnormally rapid cell division.
cell process disease
neoplasm
Post-surgical hypothyroidism
Postoperative hypothyroidism
A thyroid gland disease which involves an underproduction of thyroid hormone.
Thyroid deficiency
Thyroid insufficiency
A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream.
atheroembolism
cholesterol crystal embolism
purple toe syndrome
trash foot
warfarin blue toe syndrome
A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency.
A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections.
acute serous labyrinthitis
A syndrome that is characterized by the combination of hypertelorism, cleft lip and palate and microtia.
Bixler Christian Gorlin syndrome
Bixler syndrome
Bixler-Christian-Gorlin syndrome
HMC syndrome
Hypertelorism-Microtia-Clefting Syndrome
Hypertelorism-microtia-facial clefting syndrome
hypertelorism, microtia, facial clefting syndrome
An intestinal disease characterized by the presence of numerous atresic segments in the small and large intestines that has_material_basis_in homozygous or compound heterozygous mutation in TTC7A on chromosome 2p21.
GIDID
Multiple gastrointestinal atresias
familial intestinal polyatresia syndrome
gastrointestinal defects and immunodeficiency syndrome
A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.
VATER syndrome
An otitis interna which involves inflammation of the labyrinths.
A physical disorder that is characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations.
Silver Russell Dwarfism
binder type maxillonasal dysplasia
An eye disease characterized by abnormalities of the front part of the eye, the anterior segment.
Anomaly, Rieger's
Axenfeld syndrome
RGS - Rieger syndrome
Rieger's anomaly
Hagedoom syndrome
An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism.
Rutledge lethal multiple congenital anomaly syndrome
Smith-Opitz-Inborn syndrome
An ectodermal dysplasia that is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected and that has_material_basis_in heterozygous mutation in the GJB6 gene, which encodes connexin-30, on chromosome 13q12.
Clouston's hidrotic ectodermal dysplasia
Clouston's syndrome
Hidrotic ectodermal dysplasia syndrome
ectodermal dysplasia 2, Clouston type
hidrotic ectodermal dysplasia
A syndrome that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner.
JBS
A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.
Galactosemia II
A chromosomal deletion syndrome that is characterized by absence of the radius bone and platelet deficiency and bilateral absence of the radii with the presence of both thumbs and generally transient thrombocytopenia (less than 50 platelets/nL) and that has_material_basis_in compound heterozygosity for a rare null mutation involving the RBM8A gene on chromosome 1q12 on 1 allele and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms in RBM8A on the other.
Radial aplasia-thrombocytopenia syndrome
Thrombocytopenia with absent radii (TAR) syndrome
chromosome 1q21.1 deletion syndrome
A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.
clinical depression
major depression
recurrent major depression
single major depressive episode
unipolar depression
An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy.
GLYCINEMIA, KETOTIC
KETOTIC HYPERGLYCINEMIA
ketotic II glycinemia
ketotic glycinemia
propionic aciduria
propionyl-CoA carboxylase deficiency
A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities.
Branchio-Oto-renal syndrome
Branchio-otorenal dysplasia
Melnick-Fraser syndrome
branchiootorenal dysplasia
An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.
acrocephalosyndactylia type V
A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern.
Keller syndrome
Opitz-Kaveggia syndrome
A myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery.
myotubular myopathy
An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34.
Ehlers-Danlos syndrome, type 1
An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, has_symptom recurrent ketoacidotic attacks in infancy marked by vomitting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the ACAT1 gene of chromosome 11q22.3 responsible for producing the ACAT1 enzyme in mitochondria, which processes isoleucine and ketones.
2-methyl-3-hydroxybutyricacidemia
3-ketothiolase deficiency
3-oxothiolase deficiency
Mitochondrial acetoacetyl-CoA Thiolase deficiency
alpha-methylacetoaceticaciduria
peroxisomal thiolase deficiency
A microcephaly that has_material_basis_in heterozygous mutation in an autosomal gene.
A syndrome that is characterized by prenatal and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay and has_material_basis_in heterozygous mutation in the EZH2 gene on chromosome 7q36.
WEAVER-LIKE SYNDROME
Weaver-Williams syndrome
An angioedema that is characterized by recurrent episodes of severe swelling of the skin and mucous membranes.
HANE
Hereditary angioneurotic edema
A syndrome that has_material_basis_in mutation in the EFNB1 gene on chromosome Xq13 and is characterized in hemizygous males by hypertelorism and with greater severity in females by frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton.
CFND
CFNS
craniofrontonasal dysostosis
craniofrontonasal dysplasia
A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium.
juvenile periodontitis
A syndrome that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly).
trichorhinophalangeal syndrome type 1
type I trichorhinophalangeal syndrome
Trichorhinophalangeal dysplasia type I
A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria.
X-linked Russell-Silver syndrome
OMIM mapping confirmed by DO. [SN]. OMIM mapping submitted by NeuroDevNet. [LS].
A syndrome that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life.
cerebral gigantism
An organic acidemia that involves an accumulation of methylmalonic acid in the blood.
methylmalonic aciduria
A benign vascular tumor that is composed of dilated lymphatic channels.
Congenital lymphangioma
benign lymphangioma
An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine.
Isovaleryl-CoA dehydrogenase deficiency
isovaleric acid CoA dehydrogenase deficiency
isovaleric aciduria
An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine.
Argininosuccinate lyase deficiency
argininosuccinic acidemia
arginosuccinase deficiency
deficiency of argininosuccinate lyase
An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL3A1 gene on chromosome 2q32 and that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits.
autosomal dominant type IV Ehlers-Danlos syndrome
An Ehlers-Danlos syndrome that is characterized by joint hyperextensibility without skeletal deformity.
Ehlers-Danlos syndrome, type 3
Ehlers-Danlos syndrome hypermobility type
An Ehlers-Danlos syndrome that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits.
Ehlers-Danlos syndrome, recessive type 4
autosomal recessive type IV Ehlers-Danlos syndrome
An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face.
polysyndactyly with peculiars skull shape
A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet.
Multiple synostosis syndrome
SYNOSTOSES, TARSAL, CARPAL AND DIGITAL
A syndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities.
dominant larsen syndrome
A renal disease that is characterized by the failure of one or both kidneys to develop.
hereditary renal aplasia
hereditary urogenital adysplasia
renal adysplasia
renal aplasia
An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.
acrocephalosyndactyly type III
An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in RMRP on chromosome 9p13.3.
CHH
McKusick type metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia, McKusick type
An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24.
type VIB Ehlers-Danlos syndrome
familial neonatal seizures
A syndrome characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus with (type I) or without (premature ovarian failure) that has_material_basis_in heterozygous or rarely homozygous mutation in FOXL2 on chromosome 3q22.3.
Blepharophimosis, ptosis, epicanthus inversus syndrome
blepharophimosis, ptosis, and epicanthus inversus syndrome
A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton.
A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives.
Dejerine-Thomas syndrome
Thomas' syndrome
WADIA-SWAMI SYNDROME
A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11.
Late Spondyloepiphyseal Dysplasia
A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.
LCA
Leber's amaurosis
Leber's congenital amaurosis
Leber's disease
An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth).
A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids.
Dubowitz's syndrome
An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally.
Blount disease
familial infantile type osteochondrosis deformans tibiae
A periodontal disease that is located_in the gums.
A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.
mucoviscidosis
An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected.
Echinococcus granulosus infection
Echinococcus granulosus infection of lung
Echinococcus granulosus infection of thyroid
Liver echinococcus granulosus
Thyroid echinococcus granulosus
echinococcus granulosus
echinococcus granulosus infectious disease
echinococcus granulosus infectious disease of liver
echinococcus granulosus infectious disease of thyroid
lung echinococcus granulosus
unilocular echinococcosis
unilocular hydatid disease
A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys.
Echinococcosis of liver
echinococcal disease
hepatic echinococcosis
hydatid disease
hydatidosis
liver echinococcus
pulmonary echinococcosis
A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium Vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock.
Cholera - Vibrio cholerae
Cholera due to Vibrio cholerae
Vibrio cholerae
A disease of anatomical entity that is located_in reproductive system organs.
genital system disease
A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture.
An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons.
Disseminated candidiasis
systemic candidiasis
A personality disorder that is characterized by a pervasive pattern of social inhibition, feelings of inadequacy, extreme sensitivity to negative evaluation, and avoidance of social interaction.
anxious personality disorder
A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work.
character disorder
A chronic cervicitis that is caused by gonorrhea.
Gonococcal cervicitis, chronic
chronic gonococcal cervicitis
A cervicitis that is present for weeks or more.
An intestinal benign neoplasm that is located_in the cecum.
cecum neoplasm
neoplasm of caecum
An intestinal disease located_in the cecum.
disorder of cecum
A cecum cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Caecum carcinoma
Cecal cancer
carcinoma of cecum
A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Colonic carcinoma
carcinoma of colon
A large intestine cancer that is located_in the cecum.
malignant neoplasm of caecum
malignant tumor of the cecum
Cecal Lymphoma
Colonic Lymphoma
Relapsing febrile nodular nonsuppurative panniculitis
Weber - Christian disease
Weber-Christian disease
nodular non-suppurative febrile panniculitis
A skin disease that is characterized by inflammation of subcutaneous adipose tissue.
A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism.
disorder of pleura
non-neoplastic pleural disease
A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from two germinal layers of tissue.
malignant mixed cancer
malignant mixed neoplasm
mixed tumor
mixed tumor, malignant
malignant mixed tumor
mixed neoplasm
An endocrine gland cancer located_in the parathyroid glands located in the neck.
Parathyroid gland neoplasm
carcinoma of Parathyroid gland
malignant neoplasm of parathyroid gland
malignant neoplasm of the Parathyroid
malignant tumor of parathyroid gland
neoplasm of parathyroid gland
parathyroid gland cancer
parathyroid neoplasm
parathyroid gland adenocarcinoma
A head and neck cancer that has_material_basis_in epithelial cells and is located in the upper aerodigestive tract, including the lip, oral cavity (mouth), nasal cavity, paranasal sinuses, pharynx, and larynx.
carcinoma of the neck
carcinoma of neck
A physical urticaria that is characterized by itching, reddish skin and swelling within minutes of local exposure to dermal vibration and that has_material_basis_in heterozygous mutation in the ADGRE2 gene on chromosome 19p13.
A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.
A hypersensitivity reaction type III disease that is characterized by local vasculitis, has_symptom pain, edema, hemorrhage, or necrosis, and has_material_basis_in deposition of antigen-antibody immune complexes in vascular or serosal walls.
Arthus phenomenon
Arthus type urticaria
A hypersensitivity reaction disease that is characterized by the accumulation of antigen-antibody immune complexes, causing an inflammatory response and injury.
immune complex disease
hypersensitivity reaction type III disease
A skin disease characterized by one or more areas of well-demarcated, non-pitting edema of deep subcutaneous tissues.
Angioneurotic oedema
Quincke's edema
angioneurotic edema
giant urticaria
A disease of mental health that affects cognitive functions including memory processing, perception and problem solving.
cognitive disease
Organic Mental disorder
A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection.
Chromomycosis
Mossy foot disease
A cutaneous mycosis that results in fungal infection located in skin or of its appendages, has_material_basis_in Ascomycota fungi other than the dermatophytes.
A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body.
mycosis
mycoses
Ectropion of eyelid
Everted margin
Low pressure hydrocephalus
A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.
Ethanol abuse
alcohol abuse
A musculoskeletal system disease that involves inflammation or pain in the muscles, joints, or fibrous tissue.
Limited cutaneous systemic sclerosis
systemic sclerosis, limited
lung disease with systemic sclerosis
lung involvement in systemic sclerosis
A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm.
diffuse systemic sclerosis
systemic sclerosis, diffuse
A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia.
A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph.
acute chest syndrome in sickle cell disease
A connective tissue disease that develops from an antecedent Group A Streptococcal pharyngeal infection and has_symptom carditis, has_symptom polyarthritis, has_symptom chorea, has_symptom erythema marginatum, has_symptom subcutaneous nodules, has_symptom arthralgia, has_symptom prolonged PR interval, and/or has_symptom fever.
ACUTE RHEUMATIC FEVER
RhF - Rheumatic fever
Auto-immune thrombocytopenia
Immune thrombocytopenia
Thrombocytopenia Due to Immune Destruction
thrombocytopenia due to platelet alloimmunization
A blood platelet disease that is characterized by low a platelet count in the blood.
A major depressive disorder characterized by near-complete absence of pleasure.
endogenous depression
major depressive disorder with melancholic features
melancholia
A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.
A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages.
A lymph node disease that is characterized by an acute or chronic inflammation of one or more lymph nodes.
Adenitis
Inflammation of lymph node
acute adenitis
acute lymphadenitis
chronic Lymphadenitis
chronic adenitis
This doid includes the acute and chronic forms.[LS]
A brain disease that is characterized by coma or unconsciousness, develops from a prolonged insufficient supply of glucose to the brain, has_symptom decreased cognition, has_symptom seizure, and has_symptom coma.
A skin disease characterized_by growth of keratin on the skin or mucous membranes.
A thoracic cancer that originates in the mammary gland.
breast tumor
malignant neoplasm of breast
malignant tumor of the breast
mammary cancer
mammary tumor
primary breast cancer
mammary neoplasm
malignant neoplasm of male breast
neoplasm of male breast
A breast benign neoplasm that arises_from cutaneous sweat glands and is characterized microscopically by two-cell populations: small, dark, basaloid cells with hyperchromatic nuclei, which are immunoreactive for P63 and calponin, and larger cells with a pale nucleus, often near the center of the cluster (inner cells), which are immunoreactive for CK7 and CD117 (C-kit).
A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast.
Complex Fibroadenoma of breast
Fibroadenoma of breast
Juvenile fibroadenoma
cellular Fibroadenoma
fibroadenoma
juvenile fibroadenoma of breast
A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.
malignant neoplasm
malignant tumor
primary cancer
A breast benign neoplasm that has_material_basis_in smooth muscle cells.
A breast benign neoplasm that is has_material_basis_in epithelial tissue in which tumor cells form glands or glandlike structures.
Ademoma - breast
An intraductal papillary breast neoplasm that is has_material_basis_in epithelial tissue on papillae of vascularized connective tissue.
duct papilloma of breast
papilloma of the breast
ductal papilloma
An intraductal breast benign neoplasm that is characterized by fingerlike growth projections.
A breast benign neoplasm that derives_from precursor mesenchymal cells with myofibroblastic differentiation.
A breast benign neoplasm that has_material_basis_in epithelial and stromal tissue and derives_from periductal stromal cells of the breast.
Cystosarcoma phyllodes
Phyllodes neoplasm
benign Phyllodes neoplasm
benign Phyllodes neoplasm of the breast
benign cystosarcoma phyllodes
A breast disease that is characterized by diffuse vascularity surrounding ducts and lobules without invasion, large irregular vascular spaces and flat epithelium without atypia.
An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord.
intracranial tuberculoma
tuberculoma of brain
tuberculosis of meninges and central nervous system
tuberculous abscess of brain
An extrapulmonary tuberculosis that results in formation of lesions located in bone.
osteoarticular tuberculosis
A breast benign neoplasm that is characterized by dual differentiation into luminal cells and myoepithelial cells.
benign Adenomyoepithelioma of the breast
A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells.
breast Adenomyoepithelioma with malignant Change
malignant adenomyoepithelioma of breast
adenomyoepithelioma of the breast
A female breast cancer that is located_in the upper-inner quadrant of the breast.
malignant neoplasm of upper-inner quadrant of female breast
female breast upper-inner quadrant cancer
A female breast cancer that is located_in the lower-inner quadrant of the breast.
malignant neoplasm of lower-inner quadrant of female breast
female breast lower-inner quadrant cancer
A female breast cancer that is located_in the breast tissue extending into the axilla.
malignant neoplasm of axillary tail of female breast
A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles.
Interventricular septal defect
Ventricular septal abnormality
A brain cancer that is located in the supratentorial region.
Brain neoplasm, Supratentorial
malignant Supratentorial tumor
Infantile Melanotic neuroectodermal neoplasm
Melanotic neuroectodermal tumor of infancy
Melanotic neuroectodermal tumour of infancy
Pigmented neuroectodermal tumour of infancy
melanotic neuroectodermal tumour
Pineal Region germ cell tumor
malignant Pineal Parenchymal germ cell tumor
pineal germ cell tumor
malignant pineal area germ cell neoplasm
A pineal gland neoplasm located_in the brain.
Pineal PNET
Arthropathy in Behcet's syndrome involving ankle and foot
Arthropathy in Behcet's syndrome involving forearm
Arthropathy in Behcet's syndrome involving hand
Arthropathy in Behcet's syndrome involving lower leg
Arthropathy in Behcet's syndrome involving multiple sites
Arthropathy in Behcet's syndrome involving pelvic region and thigh
Arthropathy in Behcet's syndrome involving shoulder region
Arthropathy in Behcet's syndrome involving upper arm
Behcet syndrome arthropathy
A pneumothorax that is characterized by a pneumothorax in which the pressure of intrapleural gas exceeds atmospheric pressure resulting in acute onset chest pain and shortness of breath.
A pleural disease that is characterized as an abnormal collection of air in the pleural space between the lung and the chest wall.
A chronic cystitis characterized by unpleasant sensation related to the bladder and lower urinary tract in the absence of identifiable causes and has_symptom pain, has_symptom pressure, has_symptom discomfort, has_symptom dysuria, and/or has_symptom urinary frequency.
A bladder disease that is characterized by inflammation of the bladder.
Cardiac septal defects
Congenital septal defect of heart
septal defect
Congenital Heart Defects
Congenital anomaly of heart
Heart Malformation
congenital heart defect
heart defect
Heart-congenital defect
An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.
A glaucoma characterized by narrowing of the anterior chamber angle secondary to neovascularization along the iris and iridocorneal angle such that the aqueous fluid outflow is blocked and intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Neovascular glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Neovascular glaucoma can be related to abnormal angiogenesis with ischemic retinal diseases, inflammation, diabetes mellitus, intraocular malignancy, and autoinmmune diseases.
secondary angle-closure glaucoma with rubeosis
An endocrine gland cancer that has_material_basis_in neuroendocrine cells.
neuroendocrine neoplasm
A skin disease characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed.
ichthyoses
non-syndromic ichthyosis
A disease of anatomical entity that occurs in the muscular and/or skeletal system.
An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system.
Endocrine tumor
endocrine neoplasm
malignant Endocrine tumor
malignant neoplasm of endocrine gland
malignant tumour of endocrine gland
neoplasm of endocrine gland
neoplasm of endocrine system
An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22.
X-linked ichthyosis with steryl-sulphatase deficiency
X-linked placental steryl-sulphatase deficiency
X-linked recessive ichthyosis
A lipid metabolism disorder that involves defects in steroid metabolism.
An ichthyosis that has_material_basis_in heterozygous mutation in the filaggrin gene (FLG) on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface.
Dominant congenital ichthyosiform erythroderma
Richter syndrome
primitive Neuroectodermal neoplasm
An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening.
Aortic stenosis
Rheumatic aortic stenosis
rheumatic aortic valve stenosis
Pale (Clear cell) acanthoma
Curling Ulcer
Curling's ulcers
Stress Ulcer
Adding UMLS CUI for Curling Ulcer C0013295.
An organ system cancer that is located in the peritoneum.
cancer of peritoneum
peritoneal neoplasm
Partial Retinal Vein Occlusion
Partial occlusion of retinal vein
Occlusion, of retinal vein
Retinal vasc. occlusion
Eccrine tumor
eccrine skin neoplasm
A primary systemic mycosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains.
A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection.
Cryptosporidial gastroenteritis
Infection by Cryptosporidium
intestinal cryptosporidiosis
neoplasm of duodenum
neoplasm of the duodenum
A small intestine benign neoplasm that is located_in the small intestine.
leiomyoma, small Bowel
Drug-induced psychosis
Drug-induced psychotic disorder
A conjunctival cancer characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that has infiltrated beyond the confines of the epithelial basement membrane.
Conjunctival Epidermoid carcinoma
invasive squamous cell carcinoma of the conjunctiva
ocular surface squamous neoplasia
squamous cell carcinoma of conjunctiva
A carcinoma that derives_from squamous epithelial cells.
epidermoid carcinoma
malignant squamous cell tumor
squamous carcinoma
squamous cell Epithelioma
squamous cell cancer
A cardiovascular cancer that is located_in blood vessels.
Blood vessel tumor
Blood vessel tumors
Blood vessel tumour disorder
Haemangiomatous tumour
blood vessel neoplasm
leiomyosarcoma of the renal Vein
malignant great vessel tumor
malignant tumor of pulmonary Vein
malignant tumor of pulmonary artery
malignant vascular neoplasm
malignant vascular tumor
neoplasm of great vessel
pulmonary artery malignant neoplasm
pulmonary vein malignant neoplasm
renal vein leiomyosarcoma
vascular tissue neoplasm
vascular tumors
Conjunctival melanoma
malignant melanoma of conjunctiva
An ocular cancer that has_material_basis_in melanocytes and is located_in the eye.
eye melanoma
intraocular melanoma
melanoma of eye
A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart.
Mitral stenosis
A cranial nerve disease that is located_in the facial nerve (seventh cranial nerve.
PARRY-ROMBERG SYNDROME
A histoplasmosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted by airborne spores and has symptom nonproductive cough, has symptom headache, has symptom loss of appetite and has symptom muscle pains.
An organ system cancer that located_in the heart and blood vessels.
Cardiovascular tumors
cardiovascular neoplasm
neoplasm of facial nerve
tumor of Facial nerve
Cheilitis granulomatosa of Mescher-Melkersson-Rosenthal
Melkersson's syndrome
A lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa.
A disease of mental health where symptoms are deliberately produced, feigned or exaggerated in order to falsely demonstrate the presence of an illness.
Munchausen syndrome
A somatoform disorder that involves numbness, blindness, paralysis or fits without a neurological cause.
Conversion Hysterical Neurosis
Conversion hysteria or reaction
Hysterical neurosis, conversion type
Loss of labyrinthine reactivity, unilateral
Unilateral loss of labyrinthine reactivity
hyperactive labyrinth, unilateral
hyperactive unilateral labyrinthine dysfunction
A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart.
vascular tissue disease
An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.
Thyroid gland neoplasm
malignant neoplasm of thyroid gland
malignant tumour of thyroid gland
neoplasm of thyroid gland
thyroid neoplasm
An endocrine gland cancer located_in the pituitary gland located at the base of the brain.
Pituitary gland neoplasm
malignant Pituitary neoplasm
malignant tumor of pituitary gland
neoplasm of pituitary gland
pituitary gland cancer
pituitary neoplasm
Adrenal Rest neoplasm
A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain.
A peritoneum cancer that develops from cells of the mesothelium and is located_in the peritoneum.
Advanced malignant Mesothelioma of Peritoneum
advanced malignant peritoneal mesothelioma
malignant mesothelioma of peritoneum
Mesothelioma of Peritoneum
A cell type cancer that has_material_basis_in mesothelial tissue that develops from the thin layer of tissue that covers many of the internal organs.
Diffuse malignant Mesothelioma
advanced malignant mesothelioma
asbestos-related malignant mesothelioma
malignant tumor of Mesothelium
A peritoneum cancer that is located_in the inside of the abdomen.
primary peritoneal carcinoma
Lymphoma of pancreas
An endocrine gland cancer located_in the pancreas.
Ca body of pancreas
Ca head of pancreas
Ca tail of pancreas
malignant neoplasm of body of pancreas
malignant neoplasm of head of pancreas
malignant neoplasm of tail of pancreas
pancreas neoplasm
pancreatic neoplasm
pancreatic tumor
A pancreatic cancer that arises from the epithelial cells of the exocrine pancreatic tissue.
malignant neoplasm of the Exocrine pancreas
malignant tumor of exocrine pancreas
malignant tumour of exocrine pancreas
A pancreatic cancer that is located_in the pancreas and that arises from transformed cells of mesenchymal origin.
sarcoma of pancreas
An islet cell tumor that has_material_basis_in epithelial cells.
Islet cell carcinoma
carcinoma of endocrine pancreas
malignant neoplasm of islets of Langerhans
pancreatic neuroendocrine carcinoma
A pancreatic cancer that is located_in the pancreatic islet cells.
Islet cell neoplasm
endocrine pancreas cancer
islet cell tumour
malignant pancreatic Endocrine tumor
malignant pancreatic Endocrine tumour
malignant tumor of endocrine pancreas
malignant tumour of endocrine pancreas
pancreatic Endocrine neoplasm
A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra.
Non-neoplastic urinary tract disease
urinary tract disease
A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma.
Fibro-osteoma
peripheral ossifying fibroma
A carcinoma that derives_from neuroendocrine cells.
peripheral neuritis
A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue.
Pathologically calcified structure
pathologic calcification
Grand mal status
A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years.
petit mal seizure
pyknolepsy
absence seizure
A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.
epilepsy syndrome
epileptic syndrome
An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain.
Generalised epilepsy
A metabolic acidosis that is characterized by the shift of acid-base status of the body toward the acid side accompanied by the accumulation of ketone bodies in body tissues and fluids, resulting from uncontrolled diabetes mellitus.
DIABETES MELLITUS, KETOSIS-PRONE
ketosis-prone diabetes mellitus
COPPER TRANSPORT DISEASE
Menkes kinky-hair syndrome
steely hair syndrome
A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue.
CA - bone cancer
bone neoplasm
bone tumour
malignant bone neoplasm
malignant bone tumour
malignant neoplasm of bone
malignant osseous tumor
neoplasm of bone
osseous tumor
Mononeuritis upper limb
A drug dependence that involves the continued use of cannabis despite problems related to use of the substance.
A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver.
A bone disease characterized by replacement of bone in the jaws with fibrous tissue leding to facial swelling that has_material_basis_in heterozygous mutation in SH3BP2 on chromosome 4p16.3.
A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis.
fibrous dysplasia of bone
osteitis fibrosa disseminata
polyostotic fibrous dysplasia
A bone cancer and jaw disease that is located in the jaw and results in a swollen jaw, results in numbness or a tingling sensation in jaw, and results in an abnormal growth of the jaw bone.
neoplasm of jaw
jaw neoplasm
central giant cell (reparative) granuloma
central giant cell granuloma
central giant cell reparative granuloma of jaw
A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.
Sexual impotence
erectile dysfunction
A male reproductive system disease that is characterized by disturbances in sexual desire or performance.
A heart septal defect located_in in the septum that separates the two atria of the heart.
atrial septal defect
atrioseptal defect
auricular septal defect
congenital atrial septal defect
interatrial septal defect
interauricular septal defect
A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.
NANBH
Viral hepatitis C
chronic hepatitis C
hepatitis C infection
hepatitis nonA nonB
A hepatitis that involves viral infection causing inflammation of the liver.
Viral hepatitis with hepatic coma
animal viral hepatitis
human viral hepatitis
A cranial nerve disease that is located_in the optic nerve.
disorder of the second nerve
optic nerve disorder
optic neuropathy
Non-infected eyelid dermatoses
A noninfectious dermatoses of eyelid that is characterized by eczema, pruritis, or erythematous vesicles or papules of the eyelids, and has_material_basis_in a type IV hypersenstivity reaction to an allergen or irritant.
Contact and allergic dermatitis of eyelid
neoplasm of sigmoid colon
tumor of sigmoid colon
A vaginal cancer that has_material_basis_in connective tissue.
sarcoma of the vagina
malignant fibrous histiocytoma of skin
vaginal melanoma
Fibroxanthosarcoma
MFH
A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.
Naevocarcinoma
malignant melanoma
A vaginal cancer that is a primitive, malignant, germ cell tumor with histological features recapitulating various development phases of the normal yolk sac.
vaginal Yolk Sac neoplasm
vaginal endodermal sinus neoplasm
A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo.
Hepatoid yolk sac tumour
Yolk Sac neoplasm
Yolk sac tumour
endodermal sinus tumour
infantile embryonal carcinoma
A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the hypoxanthine guanine phosphoribosyltransferase (HPRT) gene on chromosome Xq26.
Complete hypoxanthine-guanine phosphoribosyltransferase deficiency
HG-PRT deficiency
Hypoxanthine-guanine phosphoribosyltransferase deficiency
Hypoxanthine-guanine-phosphoribosyltransferase deficiency
Lesch - Nyhan syndrome
X-linked hyperuricemia
deficiency of IMP pyrophosphorylase
hypoxanthine guanine phosphoribosyltransferase deficiency
A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary or testis and derives_from granulosa cells, Leydig cells, Sertoli cells, and fibroblasts.
Sex Cord-Stromal neoplasm
Sex cord stromal tumour
Specialized gonadal neoplasm
Specialized gonadal tumor
Specialized gonadal tumour
sex cord-gonadal stromal tumour
An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood.
Blood urate raized
uricacidemia
A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men.
Hypogonadotropic Hypogonadism
Klinefelter's syndrome
XXY syndrome
XXY trisomy
A gonadal disease that is characterized by atypical development of chromosomal, gonadal, or anatomic sex.
sex differentiation disease
A gonadal disease that is characterized by diminished functional activity of the gonads.
An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails.
Dwarfism-Onychodysplasia
Fifth Digit Syndrome
Short Stature-Onychodysplasia.
A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.
Gaucher disease
acid beta-glucosidase deficiency
glocucerebrosidase deficiency
glucosylceramide beta-glucosidase deficiency
kerasin thesaurismosis
A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates.
sphingolipidoses
A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23.
Fanconi Schlesinger syndrome
An aortic valve stenosis that is characterized by a narrowing of the section of the aorta just above the valve that connects the aorta to the heart.
Supra-valvular aortic stenosis
An organ system cancer that is manifested in the reproductive organs.
Reproductive tumor
malignant reproductive system neoplasm
cancer of reproductive system
A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on chromosome 19p13.2.
LNMS
Laurence-Moon-Biedl syndrome
A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance.
happy puppet syndrome
puppetlike syndrome
A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes.
Broad Thumb-Hallux syndrome
Rubinstein syndrome
proximal chromosome 16p13.3 deletion syndrome
A bone development disease that results in defective ossification of bone.
A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.
Intermittent heterotropia
A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively.
trichomonas infection
A cholangitis that is characterized by an inflammation that is located in the gallbladder.
acute and chronic cholecystitis
acute cholecystitis
acute on chronic cholecystitis
chronic cholecystitis
A female reproductive system disease that is located_in the fallopian tube.
A fallopian tube cancer that is located_in the fallopian tube.
cancer of the fallopian tube
carcinoma of fallopian tube
fallopian tube Ca
A female reproductive organ cancer that is located_in fallopian tube.
fallopian tube neoplasm
malignant neoplasm of uterine tube
malignant tumor of fallopian tube
malignant tumour of fallopian tube
neoplasm of fallopian tube
tumor of the fallopian tube
tumor, fallopian tube, malignant
A fallopian tube cancer that dervies_from smooth muscle cells.
A smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis.
Leiomyosarcomas
A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance.
infantile cerebral palsy
A fallopian tube cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue.
fallopian tube malignant mixed Mullerian tumor
fallopian tube malignant mixed mesodermal (mullerian) tumor
A fallopian tube carcinoma that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue.
fallopian tube mullerian adenosarcoma
A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium.
mullerian Adenosarcoma
An immune system organ benign neoplasm that is located_in the thymus and derives_from fat cells.
Thymolipoma
Rectal tumor
neoplasm of rectum
rectum neoplasm
Lymphoma of rectum
malignant melanoma of rectum
melanoma of rectum
A colorectal cancer that is located_in the rectum.
carcinoma of rectum
carcinoma of the rectum
malignant Rectal tumor
malignant neoplasm of rectum
malignant rectum tumor
malignant tumor of rectum
rectal cancer
cancer of rectum
A sarcoma and malignant tumor of rectum that is located_in the rectum.
sarcoma of rectum
A rectum cancer that derives_from epithelial cells of glandular origin.
Rectal adenocarcinoma
Lutembacher syndrome
Lutembacher's anomaly
A otosalpingitis which is persistent and long-lasting.
chronic eustachian tube salpingitis
A eustachian tube disorder which involves inflammation of the mucous membrane of the cartilagenous portion of the eustachian tube caused by acute nasopharyngitis, infection from some pathogenic microbes or trauma of the tube.
Eustachian salpingitis
Eustachian tube salpingitis
A nervous system benign neoplasm that is characterized as a nerve tissue tumor.
Macular puckering of retina
Macular retinal puckering
cellophane maculopathy
degeneration of macula and posterior pole of retina
degeneration of macula or posterior pole
degeneration of macula and posterior pole
A musculoskeletal system cancer that is located_in connective tissue.
Tumour of connective tissue
connective tissue neoplasm
neoplasm of connective tissues
A T cell deficiency that results from the disfunction or underdevelopment of the thymus.
Nezelof's syndrome
T-cell immunodeficiency with thymic aplasia
thymic aplasia
thymic dysplasia with normal immunoglobulins
hyperinsulinemia
A female reproductive organ cancer that is located_in the placenta.
Placental tumors
malignant Placental tumor
malignant neoplasm of placenta
neoplasm of placenta
placental cancer
primary malignant neoplasm of placenta
A gestational choriocarcinoma that is located_in the placenta.
Choriocarcinoma of the Placenta
A choriocarcicoma that develops in the presence of a preceding gestational event.
Gestational chorionepithelioma
Molar pregnancy with choriocarcinoma
A hyperostosis that involves formation of new bone on the surface of preexisting bone.
bone spur
bony outgrowth
orbital exostosis
osteophyte
swimmer's exostosis
A cognitive disorder that involves an excessive, irrational dread of everyday situations.
anxiety
anxiety state
A specific developmental disorder that involves specific developmental disorders of speech and language.
A brain disease that is characterized by cerebral softening located_in cerebrum has_material_basis_in injured or dead cells of the central nervous system.
A connective tissue disease characterized by damage of tissues located_in the entheses, the site of insertion of tendons or ligaments into bones or joint capsules, with symptoms of pain, swelling and inflammation.
A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.
chronic hepatitis B
hepatitis B infection
Serum hepatitis
Drug-induced chronic hepatitis
A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus. The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma.
delta hepatitis
An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells.
Autoimmune chronic active hepatitis
autoimmune hepatitis with centrilobular necrosis
A bone remodeling disease that results in an abnormal growth of located in bone.
bone hypertrophy
hypertrophy of bone
A maxillary sinusitis which lasts for less than 4 weeks.
acute antritis
A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache.
An anxiety disorder which results from a traumatic experience that results in psychological trauma.
traumatic neurosis
A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp.
A female reproductive system disease that is located_in the vulva.
An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth.
Multiple congenital exostosis
Multiple exostosis syndromes
Osteochondromatosis syndrome
hereditary multiple exostoses 1
hereditary multiple exostoses 2
hereditary multiple exostoses 3
multiple ostechondromas
A vulvar benign neoplasm that is characterized by nodules with cystic foci high in dermis on gross examination and derives_from the sweat gland distal excretory duct. Histologically characterized by nests or lobules of cells resembling eccrine poroma with either clear cytoplasm or prominent squamous metaplasia and lumina lined by cuboidal ductal cells or columnar secretory cells.
Eccrine nodular hidradenoma
A vulvar benign neoplasm that is characterized by the comma tadpole shaped tail of dilated, cystic eccrine ducts, derives_from the eccrine sweat gland and presents as multiple, small, soft, skin-colored-to-yellowish papules, and has_symptom vulvar discomfort and has_symptom itching.
A vulvar benign neoplasm that is characterized by numerous ectatic blood vessels present in the superficial dermis.
Fordyce angiokeratoma of vulva
Bartholin gland neoplasm
tumor of Bartholin's gland
A vulva cancer that has_material_basis_in squamous tissue.
Perforation of intestine
A vestibular gland benign neoplasm that is located_in the minor vestibular glands and is composed_of epithelial tissue in which tumor cells form glands or glandlike structures.
adenoma of minor vestibular glands
A vulva cancer that has_material_basis_in glandular tissue.
Eccrine mixed tumor
Eccrine mixed tumour
eccrine mixed tumour of skin
mixed Eccrine neoplasm of the skin
A vulvar benign neoplasm that derives_from epithelial-mesenchymal origin cells. It is characterized by branching nests of basaloid cells, horn cysts, and abortive hair papillae. The tumors represent benign hamartomas of the pilosebaceous apparatus.
A vulva cancer that has_material_basis_in melanocytes.
malignant melanoma of vulva
malignant neoplasm of sweat gland
malignant tumor of the Sweat gland
A vulva cancer that has_material_basis_in connective tissue.
sarcoma of vulva
A vulva adenocarcinoma that is characterized by distinctive large cells with prominent cytoplasm, referred to as Paget cells and is an intraepithelial neoplasm of epithelial origin expressing apocrine or eccrine glandular-like features.
Paget's disease of vulva
Vulvar Paget's disease
vulval Paget disease
A vulva carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of Vulva
adenocarcinoma of the vulva
An exostosis that results_in an abnormal growth located_in calcaneus.
Calcaneal spur
A vulva carcinoma and has_material_basis_in squamous cells and is located_in the epidermis of the vulvar tissue.
Vulvar Epidermoid carcinoma
vulvar squamous cell carcinoma
squamous cell carcinoma of vulva
A muscle tissue disease that is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres.
Congenital myotonia, autosomal dominant form
Thomsen disease
Thomsen's disease
A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss.
Infection by Isospora belli and Isospora hominis
Isosporosis
isosporiasis
A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection.
intestinal coccidiosis
A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly.
B cell (antibody) deficiencies
Immunoglobulin heavy chain deficiency
immunoglobulin heavy chain deletion
A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has_material_basis_in heterozygous mutation in the PORCN gene on chromosome Xp11.23.
FDH
FODH
Goltz syndrome
Goltz-Gorlin syndrome
A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.
Congenital ectodermal defect
Congenital ectodermal dysplasia
A tularemia that is located_in lungs. The bacteria are transmitted_by breathing dusts or aerosols containing the organisms. The infection has_symptom cough, has_symptom chest has_symptom pain, and has_symptom difficulty breathing.
Pneumonic tularaemia
bronchopneumonic tularemia
pulmonary tularemia
A primary bacterial infectious disease that has_material_basis_in Francisella tularensis, which is transmitted by dog tick bite (Dermacentor variabilis), transmitted by deer flies (Chrysops sp) or transmitted by contact with infected animal tissues.
A brain cancer that is characterized by abnormally proliferating cells, derives_from germ cells.
germinoma of the brain
intracranial germinoma
A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system.
Atypical teratoid/rhabdoid tumor
Atypical teratoid/rhabdoid tumour
Rhabdoid tumor of the CNS
Rhabdoid tumour of the CNS
atypical teratoid rhabdoid tumour
AT/RT
rhabdoid tumor predisposition syndrome
A brain cancer that is characterized by abnormally proliferating cells, derives_from embryonic mesoderm.
sarcoma of the brain
A central nervous system cancer develops from transformed cells of mesenchymal origin located_in brain and spine, has_material_basis_in abnormally proliferating cells derives_from mesoderm.
sarcoma of the CNS
malignant neoplasm of temporal lobe
neoplasm of temporal lobe
tumor of Temporal Lobe
neoplasm of paraurethral glands
tumor of the Paraurethral gland
An urethral benign neoplasm that derives_from smooth muscle cells.
leiomyoma of the urethra
An ovarian cancer that derives_from mesothelial tissue.
An ovarian cancer that is characterized by cystic structure.
An ovarian cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm.
sarcoma of Ovary
An urogenital tuberculosis that results_in inflammtion located_in ovary.
An extrapulmonary tuberculosis that is located_in urogenital system.
Genitourinary tuberculosis
An ovarian cancer that arises_from lymphocytes.
An ovary epithelial cancer that has_material_basis_in epithelial and stromal tissue and arises from the surface epithelium of the ovary.
malignant ovarian surface epithelial-stromal neoplasm
An ovarian cancer that is derives_from ovarian surface epithelium.
Ovarian Surface epithelial-Stromal tumor
A malignant neoplasm of ovary and nephroblastoma that is located_in the ovaries.
ovarian Wilms' tumor
A kidney cancer that affects the kidneys and typically located_in children.
adult nephroblastoma
Wilms' tumor
malignant Ovarian germ cell tumor
malignant germ cell tumor of ovary
An ovarian cancer that originates in the germ (egg) cells of the ovary.
germ cell neoplasm of Ovary
germ cell tumor of ovary
ovarian germ cell tumor
A teeth hard tissue disease that is characterized by damage to a tooth that can happen when decay-causing bacteria in your mouth make acids that attack the tooth’s surface, or enamel.
Dental caries extending into pulp
Dental caries of smooth surface
Dental caries pit and fissure
Dental caries limited to enamel
primary dental caries
simple dental cavity
A vaginal disease that is characterized by inflammation of the vagina.
tumor of the eyelid
A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye.
Ocular tumor
eye neoplasm
malignant eye neoplasm
neoplasm of eye
neoplasm of eye proper
Carbuncle and furuncle of buttock
Carbuncle and furuncle of face
carbuncle and furuncle of any part of face except eye
carbuncle and furuncle of foot
carbuncle and furuncle of gluteal region
carbuncle and furuncle of hand
carbuncle and furuncle of leg except foot
carbuncle and furuncle of neck
carbuncle and furuncle of trunk
carbuncle and furuncle of upper arm and forearm
Ca ascending colon
malignant neoplasm of right colon
malignant tumor of ascending colon
Postsurgical hypoinsulinemia
A dental enamel hypoplasia characterized by abnormal enamel formation.
A colorectal cancer that is located_in the colon.
A perichondritis of auricle with a sudden onset and a short course.
A blood coagulation disease that is characterized by easy bleeding, has_symptom prolonged umbilical cord bleeding, epistaxis, bleeding of the gums, menorrhagia, recurrent miscarriages, abnormal scar formation and wound healing, and hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation of the F13A1 or F13B gene, which encodes Factor XIII, formally known as fibrin stabilizing factor.
Factor XIII deficiency disease
Hereditary factor XIII deficiency disease
deficiency, Laki-Lorand factor
Hemorrhagic diathesis
A blood coagulation disease that is characterized by easy bleeding, has_symptom epistaxis, bleeding of the gums, menorrhagia, and occasionally hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation in the F7 gene, which encodes coagulation factor VII, an important factor in the clotting cascade.
deficiency, stable
Hereditary hypoproaccelerinaemia
Labile factor deficiency
Proaccelerin deficiency
deficiency, labile
A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has_material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib.
Bernard - Soulier thrombopathy
Bernard Soulier syndrome
Giant platelet syndrome
Hemorrhagic dystrophic thrombocytopenia
Thrombopathy, Bernard-Soulier
A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction.
Thrombocytopathy
platelet disorder
A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has_material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32.
BDPLT2
Glanzmann thrombasthenia
Glycoprotein IIb/IIIa defect
Thrombocytasthenia
deficiency of GP IIb-IIIa complex
deficiency of glycoprotein complex IIb-IIIa
deficiency of platelet fibrinogen receptor
platelet glycoprotein IIb-IIIa deficiency
platelet-type bleeding disorder 2
thrombasthenia of Glanzmann and Naegeli
An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it.
Perichondritis and chondritis of pinna
Perichondritis of pinna
A blood coagulation disease that is characterized by the partial or complete absence of factor X activity in the blood.
disease, Stuart-Prower
Dense body defect
Platelet dense granule deficiency
Platelet storage pool defect
A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets.
Essential thrombocythaemia
familial thrombocytosis
hemorrhagic thrombocythemia
hereditary thrombocythemia
primary Thrombocytosis
A myeloid neoplasm that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood.
CMPD
CMPD, U
chronic myeloproliferative disease
A blood platelet disease that is characterized by the presence of high platelet counts in the blood.
Thrombocythaemia
A blood coagulation disease that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2.
Congenital factor XI deficiency
Hereditary factor XI deficiency disease
Rosenthal's disease
hemophilia C
plasma thromboplastin antecedent deficiency
Basilar artery syndrome
A blood coagulation disease that is characterized by prolonged PTT time without clinical symptoms, and has_material_basis_in a mutation in the F12 gene on chromosome 5q33.
Factor XII deficiency disease
Hageman Factor deficiency
deficiency, Hageman
An epilepsy syndrome that is characterised by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response.
localisation-related epilepsy
partial epilepsy
A thrombophilia that is characterized by bleeding symptoms due to low levels of circulating prothrombin, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin, on chromosome 11p11.
hypoprothrombinemia
Factor II deficiency
A blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor I).
Factor I deficiency
Fibrinogen deficiency
acute and subacute liver necrosis
acute hepatitis
acute/subac. necrosis of liver
animal hepatitis
chronic hepatitis
chronic persistent hepatitis
A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.
TIA
TIA - Transient ischaemic attack
Transient cerebral ischaemia
Transient ischemic attacks
transient ischemic attack
A bone structure disease that involves degeneration between vertebra located_in vertebral column.
Lumbar spondylosis with myelopathy
Spondylogenic compression of lumbar spinal cord
Spondylogenic compression of thoracic spinal cord
Thoracic or lumbar spondylosis with myelopathy
lumbosacral spondylosis without myelopathy
spondylosis with myelopathy
A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality.
An uterine disease that is located_in the cervix.
A bone development disease that results_in defective development of cartilage or bone.
Cartilage Development disorder
Congenital anomaly of cartilage
Osteochondrodysplasia syndrome
chondrodystrophy
An arthropathy where there is a stiffness of a joint, the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself.
A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge.
Candidal cervix
Candidal vulvovaginitis
Candidiasis of vulva and vagina
Monilial vulvovaginitis
A female reproductive system disease that is characterized by inflammation of the vagina and vulva.
Vulvo-vaginitis
An upper respiratory tract disease involving inflammation of the throat or pharynx resulting from bacterial, viral, fungal infections or irritants like pollutants or chemical substances and smoking. The infection is often referred to as sore throat. The symptoms include pain during swallowing, enlarged tonsils coated with a white discharge, runny nose, cough and slight fever.
Inflamed throat
Persistent sore throat
Pharyngeal disorder
Pharyngitis - acute
Sore throat - chronic
acute pharyngitis
chronic pharyn/nasopharyngitis
chronic pharyngitis
chronic pharyngitis and nasopharyngitis
chronic sore throat
pharyngeal disease
An endocrine system disease that is located_in the gonads.
A hidradenitis that is characterized by chronic inflammation of the apocrine sweat glands, has_symptom painful nodules, abscesses, sinus tract formation, scarring, erythema, pruritis, and pain, and has_material_basis_in chronic inflammation of the apocrine sweat glands leading to recurrent folliculitis and an accompanying immune response that worsens inflammation.
Acne inversa, familial
A sweat gland disease that is characterized by inflammation of the apocrine sweat glands and has_symptom erythema, edema, papules, plaques, pruritis, and pain.
Hydradenitis
cutaneous lymphangioma
A reproductive system disease that impairs the ability to reproduce and is located in the uterus, vagina, cervix, ovaries or fallopian tubes.
A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted by contact with water, food, or soil containing urine from the infected animals. The infection has symptom jaundice, has symptom chills, has symptom fever, has symptom muscle pain, and has symptom hepatomegaly.
Fort Bragg fever
Leptospirosis icterohaemorrhagica
Rat Catcher's Yellows
Weil's disease
nanukayami fever
spirochetal jaundice
A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs.
adult-onset primary lateral sclerosis
primary lateral sclerosis
A bone structure disease that involves a defect located_in lumbar vertebral column.
A specific developmental disorder that is characterized by repeated, rhythmic, purposeless movements or activities such as head banging, nail biting, or body rocking.
Stereotyped repetitive movements
Stereotypy habit disorder
A neurodegenerative disease that is located_in the motor neurons.
An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in Nocardia asteroides. The infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy.
Nocardia infectious disease
An extrinsic allergic alveolitis which is caused by inhalation of fungal spores of Aspergillus clavatus and Aspergillus fumigatus from moldy barley.
Malt workers' lung
Malt-workers' lung
alveolitis due to aspergillus clavatus
malt worker lung
An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.
Ischaemic encephalopathy
Ischemic encephalopathy
cerebral ischemia
A lung disease that is characterized by narrowing of pulmonary airways.
respiratory airway obstruction
A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. Chemicals and drugs also cause gastroenteritis. The symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen.
cholera morbus
infectious colitis, enteritis and gastroenteritis
A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by viruses. The symptoms include abdominal pain, indigestion, ulcer formation, abdominal bloating, nausea and vomiting.
A jaw cancer and mandibular disease that affects your lower jawbone.
malignant neoplasm of inferior maxilla
malignant neoplasm of lower Jaw bone
mandible cancer
neoplasm of mandible
malignant neoplasm of mandible
mandibular neoplasm
A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene.
Craniofacial Dysostosis
Crouzon's disease
A colon carcinoma that derives_from epithelial cells of glandular origin.
Colonic adenocarcinoma
adenocarcinoma of colon
adenocarcinoma of the colon
A synostosis that results_in premature fusion located_in skull.
Premature closure of cranial sutures
An inherited metabolic disorder that involves plasma protein metabolism malfunction.
Monoclonal paraproteinaemia
Generalised atherosclerosis
Cardiovascular arteriosclerosis
An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.
Arteriosclerotic vascular disease
An intestinal benign neoplasm that is located_in the colon.
Colonic Mass
Colonic tumor
colon neoplasm
neoplasm of colon
disorder of iron metabolism
iron disorder
A metal metabolism disorder characterized by the accumulation of iron in various organs of the body.
Haemochromatosis
diabetes bronze
iron storage disorder
An aplastic anemia that is characterized by displacement of hemopoietic bone-marrow tissue either by fibrosis, tumors or granulomas.
ANEMIA LEUKOERYTHROBLASTIC
Anemia, leukoerythroblastic
Leukoerythroblastosis
myelophthisis
A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.
anaemia
ANEMIA MACROCYTIC
Macrocytic anaemia
A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis.
Postphlebetic syndrome with inflammation
Postphlebetic syndrome with ulcer
Postphlebetic syndrome with ulcer and inflammation
postphlebitic syndrome
venous stress disorder
A viral infectious disease that results in inflammation located in brain, has_material_basis_in West Nile virus, which is transmitted_by Culex, Aedes, or Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis.
West Nile Fever with encephalitis
West Nile fever encephalitis
A viral infectious disease that results_in infection, has_material_basis_in West Nile virus, which is transmitted_by Culex and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom body ache, has_symptom nausea, has_symptom maculopapular rash and has_symptom vomiting.
A sphingolipidosis that is characterized by the accumulation of lipids known as gangliosides.
A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present.
Congenital elliptocytosis
ovalocytosis
A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.
Generalized multiple sclerosis
insular sclerosis
A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles.
RRMS
Relapsing-remitting MS
Pupillary disorder
A brain disease that is characterized by hyperbilirubinemia-induced brain dysfunction.
bilirubin encephalopathy
A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant.
neonatal hyperbilirubinemia
neonatal icterus
A brain disease that is characterised by the presence of neurological symptoms of ophthalmoplegia, ataxia, and confusion caused by biochemical lesions of the central nervous system after exhaustion of B-vitamin reserves, in particular thiamine (vitamin B1).
Wernicke's disease
Wernicke's encephalopathy
renal vascular disease
vascular disorder of kidney
cystitis glandularis
A female reproductive organ cancer that is located_in the ovary.
malignant Ovarian tumor
malignant tumour of ovary
ovarian neoplasm
ovary neoplasm
primary ovarian cancer
tumor of the Ovary
A vulva cancer that is located_in the clitoris.
Clitoral Ca
carcinoma of Clitoris
clitoral cancer
malignant neoplasm of clitoris
malignant tumor of Clitoris
A parasitic Ichthyosporea infectious disease that is a chronic granulomatous infection of the mucous membranes caused by the parasite Rhinosporidium seeberi, which manifests as vascular friable polyps that arise from the nasal mucosa or external structures of the eye. Disease of the skin, mouth, upper airways, ear, genitals, and rectum has also been observed.
Infection by Rhinosporidium seeberi
granular cell neoplasm of the skin
granular cell tumor of skin
granular cell tumour of skin
skin granular cell tumour
neoplasm of granular cell
Ganglioneuroma of skin
A central nervous system benign neoplasm that has_material_basis_in mature neurons, and is classified by the absence of neoplastic glial cells.
Glomus skin neoplasm
Glomus tumor of skin
Glomus tumour of skin
skin glomus tumour
A hemangiopericytic tumor that is a mesenchymal neoplasm composed of cells that closely resemble the modified smooth muscle cells of the normal glomus body.
Glomus neoplasm
Glomus tumour
neoplasm of skin with adnexal differentiation
neoplasm of the skin Appendage
skin appendage tumour
Cutaneous Glomangioma
Glomangioma of skin
dermis tumour
neoplasm of Dermis
tumor of dermis
tumour of dermis
A squamous cell carcinoma that is located_in the frontal sinus.
Epidermoid carcinoma of the Frontal sinus
A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb.
A thrombophilia that is characterized by increased risk of developing abnormal blood clots.
Protein S deficiency disease
A blood coagulation disease that is characterized by an increased tendency to form clots.
hypercoagulability state
A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area.
A blepharitis that is characterized by the dual combination of conjunctivitis with blepharitis.
retina circulation disorder
A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality.
mental or behavioural disorder
A systemic mycosis that results_in fungal infection located_in human body of immunocompromised individuals, has_material_basis_in Fungi. The organisms invade via the respiratory tract, alimentary tract, or intravascular devices.
Opportunistic mycoses
opportunistic systemic mycoses
A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.
French settlement disease
Strumpell-Lorrain disease
familial spastic paraplegia
hereditary spastic paraparesis
HSMN
HSMN - Hereditary sensory and motor neuropathy
Hereditary motor and sensory neuropathy
neuropathic muscular atrophy
A brain disease that is characterized by vertigo caused by hemorrhagic insult, ischemic insult or mass lesion of the cerebellum, the vestibular nuclei, and the brainstem, has_symptom dizziness, has_symptom nausea, has_symptom vomiting and has_symptom difficulty walking.
Vertigo of central origin
central vestibular vertigo
A respiratory system benign neoplasm that derives_from smooth muscle cells and is located_in the trachea.
leiomyoma of the Trachea
Phosphorus disorder
disorder of phosphorus metabolism
phosphorus metabolism disorder
congenital neurologic anomaly
A neuropathy that involves damage to nerves of the peripheral nervous system.
peripheral Sensory Neuropathy
sensory neuropathy
Watermelon stomach
A vascular disease that is characterized as a small vascular malformation of the gut.
angiodysplasia of stomach and duodenum with hemorrhage
Senile hemangioma
Senile naevus of skin
generalized erosion
localized erosion
A vasculitis that involves inflammation of the aorta that carries blood from the heart to the rest of the body.
Aortic arch arteritis
Idiopathic aortitis
Takayasu arteritis
Takayasu's disease
aortic arch syndrome
An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior.
Klver-Bucy syndrome
A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities that has_material_basis_in heterozygous mutation in either PTCH1, PTCH2, or SUFU on chromosome 9q22, 1p32, or 10q24-q25, respectively.
Gorlin syndrome
NBCCS
basal cell nevus syndrome
Basal cell cancer
Basal cell carcinoma of skin
Basal cell neoplasm
Basal cell tumor
Epithelioma basal cell
Rodent ulcer
malignant Basal cell neoplasm
malignant basal cell tumor
intracranial Cavernoma
Angioma of intracranial Structure
hemangioma of intracranial structure
hemangioma of intracranial structures
Inflammation of testis
Orchititis
disorder of testis
testis disorder
An alcohol-induced mental disorder involving prominent hallucinations and delusions occurring during or shortly after acute alcohol intoxication or withdrawal.
Alcoholic psychoses
A prostate carcinoma that derives_from epithelial cells of glandular origin.
A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.
Dyssplenism
Spleen disease
An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.
Hematologic malignancy
Hematologic neoplasm
Hematological tumors
blood cancer
hematopoietic and lymphoid system tumor
hematopoietic cancer
hematopoietic neoplasm
hematopoietic tumors
malignant hematopoietic neoplasm
Splenic infarct
chronic inflammatory demyelinating polyneuritis
A childhood electroclinical syndrome that is characterized by the loss of language comprehension (auditory verbal agnosia) and verbal expression (aphasia) in association with severely abnormal electroencephalographic (EEG) findings during sleep and clinical seizures in most patients.
acquired epileptic aphasia
hemangioma of intra-abdominal structures
hemangioma, Intra-abdominal
An epilepsy syndrome that is located_in an area of the brain other than the temporal lobe.
A variable age at onset electroclinical syndrome that is consistently induced by identifiable and objective-specific triggers, which may be an afferent stimulus or by the patient's own activity.
epilepsy, sensory-induced
A cardiovascular organ benign neoplasm that has_material_basis_in endothelial cells that line blood vessels and is characterised by increased number of normal or abnormal vessels filled with blood.
A chondromalacia that is characterized by recurrent inflammation of cartilage and other tissues throughout the body.
Chondromalacia, systemic
A cartilage disease that is characterized by softening and breakdown of cartilage inside a joint.
A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.
Opioid type dependence
Splenic hemangioma
An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance.
Apical abscess
Dentoalveolar abscess
Periapical abscess
Suppurative apical periodontitis
A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea.
Fehr corneal dystrophy
MACULAR DYSTROPHY, CORNEAL, 1
A cervix disease that is characterized by inflammation of the cervix.
A histiocytosis that is characterized by clonal proliferation of Langerhans cells.
Histiocytosis X
Langerhan's cell histiocytosis
Langerhans cell granulomatosis
Letterer-Siwe disease
Letterer-Siwe disease involving intra-abdominal lymph nodes
Letterer-Siwe disease involving intrapelvic lymph nodes
Letterer-Siwe disease involving intrathoracic lymph nodes
Letterer-Siwe disease involving lymph nodes of axilla and upper limb
Letterer-Siwe disease involving lymph nodes of head, face and neck
Letterer-Siwe disease involving lymph nodes of head, face, and neck
Letterer-Siwe disease involving lymph nodes of inguinal region and lower limb
Letterer-Siwe disease involving lymph nodes of multiple sites
Letterer-Siwe disease involving spleen
Letterer-Siwe disease of intra-abdominal lymph nodes
Letterer-Siwe disease of intrapelvic lymph nodes
Letterer-Siwe disease of intrathoracic lymph nodes
Letterer-Siwe disease of lymph nodes of axilla and upper limb
Letterer-Siwe disease of lymph nodes of axilla and/or upper limb
Letterer-Siwe disease of lymph nodes of head, face and neck
Letterer-Siwe disease of lymph nodes of head, face and/or neck
Letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb
Letterer-Siwe disease of lymph nodes of inguinal region and lower limb
Letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb
Letterer-Siwe disease of lymph nodes of multiple sites
Letterer-Siwe disease of spleen
A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance.
A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity.
Chondrodysplasia Punctata, Rhizomelic Form
A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography.
Chondrodysplasia punctata congenita
A peroxisomal disease characterized by loss of catalase activity in erythrocytes that has_material_basis_in homozygous mutation in the CAT gene on chromosome 11p13.
acatalasemia
deficiency of catalase
A B cell deficiency that is caused by a reduction in all types of gamma globulins.
IGHM
hypogammaglobulinemia
mu heavy chain deficiency
A nephrotic syndrome that has_material_basis_in genetic mutations.
Congenital nephrotic syndrome
Ca larynx - glottis
malignant tumor of glottis
malignant tumor of the Glottis
A respiratory system cancer that is located_in the larynx.
neoplasm of glottis
tumor of the Glottis
laryngeal tumor
larynx neoplasm
neoplasm of larynx
Glottic carcinoma
carcinoma of glottis
An endocrine system disease that is located_in the pancreas.
Ca hepatic flexure - colon
malignant neoplasm of hepatic flexure
malignant tumor of hepatic flexure
A larynx cancer that has_material_basis_in epithelial cells.
cancer of larynx
carcinoma of larynx
Periosteal Chondroma
A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern.
central Chondroma
A cell type benign neoplasm that has_material_basis_in gland and muscle components.
Ca transverse colon
malignant tumor of transverse colon
A cell type benign neoplam that is composed of epithelial tissue on papillae of vascularized connective tissue.
papillomatosis
A reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the region of the Wolffian duct.
Mesonephric adenoma
Mesonephroma, benign
benign mesonephroma
A kidney cancer which is manifested in the kidney.
hemangiopericytoma of kidney
renal hemangiopericytoma
A peripheral nervous system neoplasm that is located_in the autonomic nervous system.
tumor of Autonomic nervous system
childhood choroid plexus papilloma
A urinary system cancer that is located_in the kidney.
malignant neoplasm of kidney except pelvis
malignant tumour of kidney
renal cancer
A papillary adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures with psammoma bodies.
Micropapillary serous carcinoma
Papillary serous carcinoma
serous surface papillary carcinoma
Cystoma
An ovarian benign neoplasm that has_material_basis_in the surface epithelium of the ovary.
benign ovarian Brenner tumor
benign ovarian Brenner tumour
ovarian Brenner tumour
A breast fibroadenoma that is characterized by stromal proliferation around epithelial structures.
Pericanalicular Fibroadenoma of breast
Pericanalicular fibroadenoma
A hemangiopericytic tumor that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries.
Haemangiopericytic meningioma
hemangiopericytoma, malignant
malignant hemangiopericytoma
An ovarian germ cell monodermal and highly specialized teratoma that is composed either exclusively or predominantly of thyroid tissue.
A monodermal teratoma that has_material_basis_in germ cells that are highly specialized and is located_in the ovary.
Ovarian Monodermal and Highly Specialized teratoma
ovarian germ cell monodermal and highly specialized teratoma
PEComa
neoplasm with Perivascular epithelioid cell differentiation
A cell type benign neoplasm that has_material_basis_in mesothelium.
benign tumor of Mesothelium
adenoma of the Sebaceous gland
skin appendage sebaceous adenoma
A connective tissue benign neoplasm that derives_from chondroblasts and begins in cartilage at the ends of long bones (thighbone, shinbone, humerus) close to the joints.
Chondroblastoma of bone
An angiosarcoma and hemangioma of intra-abdominal structure and malignant soft tissue neoplasm of the spleen that results_in a nonhematolymphoid malignant neoplasm of the spleen.
Splenic hemangiosarcoma
angiosarcoma of spleen
fibrous mesothelioma, benign
localized benign fibrous Mesothelioma
A breast fibroadenoma that is characterized by stromal proliferation compressing the epithelial structures into clefts.
A cystic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm).
Dermoid choristoma
Dermoid tumour
Mature cystic teratoma
cystic dermoid choristoma
teratoma, benign
A benign teratoma that is characterized by the presence of cysts or cystic spaces.
A sweat gland benign neoplasm that is composed_of outgrowths of myoepithelial cells from a sweat gland.
Myoepithelial adenoma
Myoepithelial neoplasm
benign myoepithelioma
Sweat gland tumor
neoplasm of sweat gland
tumor of the Sweat gland
Pacinian neurofibroma
transitional cell papilloma
transitional cell papilloma, benign
A carcinoma that derives_from transitional epithelial cells.
transitional carcinoma
transitional cell tumor
urothelial cell carcinoma
transitional cell neoplasm
A nephroma that is characterized as a localized, well-circumscribed multilocular tumor lined by hobnail epithelium.
multilocular cystic nephroma, mixed epithelial stromal tumour and renal epithelial stromal tumour
Dysembryoplastic Neuroepithelial neoplasm
dysembryoplastic neuroepithelial tumour
An angiosarcoma and sarcoma of liver and hemangioma of intra-abdominal structure and Ca liver - primary that is located_in the liver.
angiosarcoma of liver
hemangiosarcoma of the Liver
Intracystic papilloma
A cell type benign neoplasm that is composed_of glandular and fibrous tissues, with a relatively large proportion of glands.
Ossifying Fibromyxoma
ossifying fibromyxoid tumour
Cutaneous sarcoma
A lymphatic system cancer that has_material_basis_in endothelial cells located_in lymphatic vessels.
Lymphangiosarcoma of Stewart and Treves
Stewart-Treves syndrome
malignant Lymphangioendothelioma
skin lymphangiosarcoma
A muscle benign neoplasm that is characterized as benign hyperplastic lesions of uterine smooth muscle cells.
benign neoplasm of the Muscle
A sex cord-gonadal stromal tumor that secretes testosterone characterized by excessive proliferation of Leydig cells located_in ovary or testicle.
Leydig cell neoplasm
renal cell adenoma
Metanephric adenofibroma
A sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is located_in the liver.
hepatic sarcoma
An adenofibroma that is characterized by the presence of mucin.
Synovioma, benign
benign synovioma
benign tumor of Synovium
localized Giant cell tumor of Tenosynovium
Diffuse Giant cell tumor of Tenosynovium
villous tenosynovitis
A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling.
Giant cell tumour of tendon sheath, malignant
malignant Giant cell neoplasm of the Tendon Sheath
malignant giant cell tumor of the tendon sheath
malignant Giant cell neoplasm
malignant tumor, giant cell type
malignant tumor of Synovium
An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes.
Angioma of Liver
hepatic angioma
An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building.
Tight foreskin
Tight frenulum
A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability.
Bloom-Torre-Machacek syndrome
Congenital Telangiectatic Erythema syndrome
A pneumothorax that is characterized by having air in the chest cavity and blood in the chest cavity.
A vascular disease that is located_in the liver.
vascular disorder of liver
A dermatitis that selectively affects the hands and feet.
A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin.
eczema
skin inflammation
A hemangioma that is characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells.
Congenital vascular hamartoma
Congenital vascular naevus
Infantile hemangioma
Juvenile hemangioma
Strawberry haemangioma
Strawberry nevus
Strawberry nevus of skin
cellular hemangioma of Infancy
A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer.
Xref MGI. OMIM mapping by NeuroDevNet. [LS].
A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin.
acantholysis bullosa
A bullous skin disease that is characterized by fluid filled blisters.
A skin disease characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life that has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24.
Congenital poikiloderma
RTS
Atrophoderma
Atrophy - skin
atrophic condition of skin
DARIER-WHITE DISEASE
Darier's disease
A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in NOTCH2 on chromosome 1p12.
Cheney syndrome
HJCYS
SFPKS
acroosteolysis with osteoporosis and changes in skull and mandible
arthrodentoosteodysplasia
serpentine fibula-polycystic kidney syndrome
A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.
Gronblad-Strandberg syndrome
A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity.
Constitutional hyperbilirubinemia
Gilbert's disease
Gilbert's syndrome
Gilbert-Meulengracht syndrome
hereditary nonhemolytic jaundice
An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism.
hereditary hyperbilirubinemia
hyperbilirubinemia
hyperbilirubinaemia
A sensory system disease that is characterized by auditory dysfunction located_in the auditory system.
ear and mastoid disease
A personality disorder that involves an excessive preoccupation with issues of personal adequacy, power, prestige and vanity.
A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13.
Glycogen storage disease, type V
McArdle's disease
glycogen storage disease type V
myophosphorylase deficiency
A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.
glycogenosis
glycogenoses
A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21.
Glycogen storage disease, type III
amylo 1,6 glucosidase deficiency
deficiency of debranching enzyme
deficiency of dextrin
A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC gene, which encodes glucose-6-phosphatase (G6Pase), on chromosome 17q21.
hemangioma of stomach
A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GBE1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12.
Amylopectinosis
Branching-transferase deficiency glycogenosis
Glycogen storage disease, type IV
brancher deficiency glycogenosis
deficiency of 1,4-alpha-glucan branching enzyme
A glycogen storage disease that is characterized hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase and results from the lack of expression of phosphorylase-b-kinase activity.
glycogen storage disease type VIII
glycogenosis type VIII
hepatic glycogen phosphorylase kinase deficiency
A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.
Generalized glycogenosis
Glycogen storage disease, type II
Glycogenosis, type 2
Lysosomal alpha-1,4-glucosidase deficiency
Pompe's disease
acid maltase deficiency
deficiency of glucoamylase
deficiency of maltase
glycogen storage disease type II
A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation.
Hers' disease
glycogen storage disease type VI
hepatic glycogen phosphorylase deficiency
hepatophosphorylase deficiency glycogenosis
A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons.
Infection due to Mycobacterium intracellulare
MAC disease
Mycobacterium Avium Infection
Mycobacterium avium Complex
A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
A squamous cell carcinoma that is located_in the ethmoid sinus.
Epidermoid carcinoma of the ethmoidal sinus
adenoid cystic carcinoma of the ethmoid sinus
adenoid cystic carcinoma of ethmoid sinus
An ethmoid sinus cancer that derives from epithelial cells of glandular origin.
adenocarcinoma of the ethmoid sinus
adenocarcinoma of ethmoid sinus
A tic disorder that consists of multiple motor and/or phonic tics with duration of at least 4 weeks, but less than 12 months.
A specific developmental disorder that is characterized by the persistent presence of involuntary brief movements or sounds occuring intermittently and unpredictably out of a background of normal motor activity.
Placental hemangioma
A contact dermatitis that is characterized by a cutaneous inflammatory reaction to repeated contact with an irritant substance, friction, liquid, or adverse temperature that interacts with the skin and often has_symptom erythema, edema, scaling, pain, pruritis, or burning sensation.
irritant contact dermatitis
primary irritant dermatitis
Contact dermatitis/eczema
Contact eczema
Dermatitis, venenata
dermatitis venenata
An adamantinoma that is located_in the long bones and results_in focal epithelial differentiation.
A bone cancer that is located_in almost exclusively in the long bones.
Rectosigmoid tumor
neoplasm of rectosigmoid junction
rectosigmoid neoplasm
malignant Rectosigmoid tumor
malignant neoplasm of rectosigmoid
malignant neoplasm of rectosigmoid junction
malignant tumor of rectosigmoid junction
A lung cancer that is located_in the lung and that arises from transformed cells of mesenchymal origin.
pulmonary sarcoma
A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle.
Atresia of foramina of Magendie and Luschka
A brain disease that is characterized by damage to brain substance located_in cerebellum; has_symptom ataxia, has_symptom dysarthria, and has_symptom cerebellar cognitive affective syndrome.
A parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes.
mastigophora infectious disease
sarcomastigophora infectious disease
A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching.
A pneumonia located_in the lung parenchyma of unknown cause.
Diffuse idiopathic pulmonary fibrosis
Idiopathic fibrosing alveolitis
IPF
A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.
Bronchiolitis exudativa
Bronchiolitis fibrosa obliterans
Obliterative bronchiolitis
A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body.
A idiopathic interstitial pneumonia which develops suddenly and is severe. Initially, the lung shows edema, hyaline membranes, and interstitial acute inflammation. Later, it develops loose organizing fibrosis, mostly within alveolar septa and type II pneumocyte hyperplasia. Fever, cough, and difficulty breathing develop over 1 to 2 weeks, typically progressing to acute respiratory failure.
AIP
Hamman-Rich disease
Hamman-Rich syndrome
Idiopathic pulmonary fibrosis, acute fatal form
accelerated interstitial pneumonia
acute interstitial pneumonitis
An idiopathic interstitial pneumonia that occurs mainly in women, people who do not smoke, and people younger than 50 years with no known cause or risk factors. Lung biopsies may show predominantly interstitial inflammation or fibrosis or a combination of inflammation and fibrosis. A dry cough and shortness of breath develop over 6 to 18 months. Low-grade fever and a feeling of illness (malaise) may occur.
NSIP
A lung disease that is defined as a recurrent or chronic collapse of the right middle lobe, right upper lobe or lingula of the lung. It is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreign bodies, endobronchial silicotic nodules, inspissated mucus associated with cystic fibrosis or inflammation as a result of an infection.
malignant tumor of acoustic vestibular nerve
malignant tumor of the Vestibulocochlear nerve
malignant tumour of acoustic vestibular nerve
A central nervous system cancer that affects a cranial nerve, develops from schwann cells located_in cranial nerves, has_material_basis_in abnormally proliferating cells.
malignant neoplasm of cranial nerve
malignant tumor of cranial nerve
malignant tumor of the Cranial nerve
IIIrd Cranial nerve neoplasm, malignant
primary malignant neoplasm of oculomotor nerve
Oculomotor nerve tumor
Oculomotor nerve tumour
cranial nerve III tumour
neoplasm of oculomotor nerve
disorder of the nose
nasal disorder
A cholecystitis characterized by the absence of gallstones.
acute acalculous cholecystitis
acute cholecystitis without calculus
cholecystitis without calculus
An opportunistic mycosis that has_material_basis_in Galactomyces geotrichum, results_in systemic infection in immunocompromised people.
Polycythemia, secondary
secondary polycythemia
Gaisbock's syndrome
Polycythemia, emotional
Nephrogenous polycythemia
Polycythaemia due to Excess Erythropoetin Production
Polycythemia due to excess erythopoetin production
Polycythemia, nephrogenous
secondary polycythemia with excess erythropoietin
A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.
Exercise induced asthma
bronchial hyperreactivity
chronic obstructive asthma
chronic obstructive asthma with acute exacerbation
chronic obstructive asthma with status asthmaticus
exercise-induced asthma
Jervell and Lange-Nielson syndrome
An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles).
LQT
Romano-Ward syndrome
long Q-T syndrome
A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping.
Bruxism - teeth grinding
Grinding teeth
Teeth grinding
sleep related bruxism
A chronic lymphocytic leukemia that is characterized by over production of B cells (lymphocytes) by the bone marrow where the B cells appear hairy under a microscope.
A thyroid gland disease that is characterized by elevated thyroxine levels in the blood.
Sick-euthyroid syndrome
Hb-C disease
hemoglobinopathies
HNSHA
congenital nonspherocytic hemolytic anaemia
hereditary nonspherocytic hemolytic anaemia
hereditary nonspherocytic hemolytic anemia
congenital nonspherocytic hemolytic anemia
A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH).
Glucose-6-phosphate dehydrogenase deficiency
deficiency of G-6PD
glucosephosphate dehydrogenase deficiency
An endometrial carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of endometrium
adenocarcinoma of the Endometrium
adenocarcinoma of uterus
endometrial adenoacanthoma
endometrial endometrioid adenocarcinoma
endometrial endometrioid adenocarcinoma with squamous differentiation
endometrioid adenoma or carcinoma
endometrioid adenomas and carcinomas
endometrioid carcinoma of Endometrium
A endometrial cancer that is located_in the tissue lining the uterus.
carcinoma of the Endometrium
endometrioid carcinoma
endometrioid carcinoma of female Reproductive system
A laryngeal carcinoma that has_material_basis_in squamous cells.
Epidermoid carcinoma of the Larynx
squamous cell carcinoma of larynx
A larynx cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm.
sarcoma of larynx
A uterine disease that is characterized by the presence of endometrial tissue grows outside of the endometrium, such as into the myometrium.
Endometriosis interna
Endometriosis of myometrium
Endometriosis, myometrium
adenomyosis
uterine Adenomyosis
A male reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the prostate.
adenoma - prostate
adenoma of prostate
benign adenoma of prostate
prostate adenoma
Phyllodes neoplasm of the prostate
benign Phyllodes neoplasm of the prostate
benign prostate phyllodes tumour
prostate phyllodes tumor
prostate phyllodes tumour
A male reproductive organ benign neoplasm that derives_from smooth muscle cells and that is located_in the prostate.
Prostatic leiomyoma
A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.
An endocrine organ benign neoplasm that is located_in the thyroid and derives_from glandular epithelial cells.
adenoma of thyroid gland
A cervix carcinoma that is located_in the exocervix.
carcinoma of exocervix
carcinoma of the Exocervix
A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
cancer of cervix
carcinoma cervix uteri
carcinoma of cervix
carcinoma of the Cervix Uteri
A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.
Facio-auriculo-vertebral spectrum
First AND second branchial arch syndrome
First arch syndrome
HEMIFACIAL MICROSOMIA
OAV (oculoauriculovertebral) dysplasia
Otomandibular dysostosis
A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities.
Franceschetti syndrome
mandibulofacial dysostosis
A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock.
A disease of anatomical entity that is located_in the immune system.
A hypersensitivity reaction disease that is characterized by a cell-mediated response to antigens, where Th1 helper T cells react with antigens on antigen-presenting cells and cause a delayed type immune response.
immunoproliferative disease
hypersensitivity reaction type IV disease
A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures.
Cryoimmunoglobulinaemia
lacrimal system neoplasm
neoplasm of lacrimal system
tumor of the lacrimal system
Lobular glomerulonephritis
chronic glomerulonephritis, lobular
membranoproliferative glomerulonephritis
A nephritis that causes inflammation of the glomeruli located_in kidney.
A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues.
Haemangiectatic hypertrophy
Klippel-Trenaunay-Weber syndrome
angioosteohypertrophy syndrome
A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Avian orthoavulavirus 1, which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds.
Newcastle's disease
Pseudo-fowlpest
carcinoma of the lacrimal gland
A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease virus. The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia.
Aleutian disease
A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42.
CHS
Chediak - Steinbrinck anomaly
malignant neoplasm of lacrimal gland
malignant tumour of lacrimal gland
neoplasm of lacrimal gland
tumor of the lacrimal gland
A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen.
A Coronavirus infection that results_in infection located_in respiratory tract, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.
SARS
SARS-CoV infection
An ocular cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells and arises_from the tissues that cover structures located_in the eye.
Ocular carcinoma
carcinoma of eye
Travel Sickness
An auditory system disease that is located in the part of the ear that contains organs of the senses of hearing and equilibrium.
labyrinthine disease
A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.
A B cell deficiency that is characterized by relative predominance of certain immunoglobulin subtypes and deficiencies of others.
carcinoma Ex Pleomorphic adenoma of the lacrimal gland
carcinoma ex pleomorphic adenoma of lacrimal gland
malignant mixed neoplasm of lacrimal gland
A trichothiodystrophy characterized by skin that is extremely sensitive to ultraviolet (UV) rays from sunlight.
IBIDS syndrome
Tay syndrome
sulfur-deficient brittle hair syndrome
trichothiodystrophy with congenital ichthyosis
A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development.
Neill-Dingwall syndrome
Cockayne's syndrome
carcinoma ex pleomorphic adenoma
carcinoma in pleomorphic adenoma
A kidney cortex disease that is characterized by death of the tissue in the outer part of the kidney that results from blockage of the small arteries that supply blood to the cortex and that causes acute kidney injury.
renal cortical necrosis
renal Cyst
A carbohydrate metabolic disorder characterized by impaired glyoxylate metabolism resulting in accumulation of oxalate throughout the body typically manifesting as kidney and bladder stones.
An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates.
disorder of carbohydrate transport and metabolism
inborn carbohydrate metabolism disorder
inborn errors of carbohydrate metabolism
A lacrimal gland carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of lacrimal gland
Necrotizing renal papillitis
Papillary necrosis
renal PAPILLITIS NECROTIZING
Suppression of urinary secretion
A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.
Berger's IgA or IgG nephropathy
Focal Glomerulonephritis
IgA nephropathy
primary IgA nephropathy
segmental glomerulonephritis
An autoimmune disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.
benign paroxysmal peritonitis
An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin).
antiphospholipid antibody syndrome
A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue.
neuroendocrine tumor of the prostate
A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from germ cells.
malignant tumor of the germ cell
germ cell neoplasm
germ cell tumour
mixed germ cell-Sex Cord tumor
mixed germ cell-sex cord-stromal tumor
A sex cord-gonadal stromal tumor characterized by variable proportions of Sertoli cells, Leydig cells, primitive gonadal stroma and/or heterologous elements located_in the ovaries and testicles.
A male reproductive system cancer that is located_in the testicles.
childhood neoplasm of the testis
neoplasm of testis
pediatric testicular neoplasm
testicular tumor
testis cancer
testis neoplasm
A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma.
Granulosa cell neoplasm
Granulosa cell tumor, adult type
Granulosa cell tumour, sarcomatoid
malignant granulosa cell neoplasm
A female reproductive organ cancer that is characterized by a resemblance to endometrium.
endometrioid neoplasm
endometrioid tumor
female reproductive endometrioid neoplasm
An ovarian cancer that has_material_basis_in nuroendocrine cells.
neuroendocrine tumor of Ovary
A breast benign neoplasm that is located_in the nipple.
tumor of Nipple
A breast cancer that arises from myoepithelial cells, which are a normal constituent of the salivary acini and ducts and are found between the epithelial cells and the basement membrane.
A breast carcinoma that derives_from the lining of milk ducts.
duct carcinoma
A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.
Infiltrating ductal carcinoma of breast
Invasive ductal carcinoma, NST
ductal adenocarcinoma
A breast benign neoplasm that forms from cells that release hormones into the blood in response to a signal from the nervous system.
neuroendocrine tumor of the breast
A breast carcinoma in situ that is characterized by abnormal cells are found in the lobules (glands that make milk) of the breast.
Lobular Intraepithelial Neoplasia
lobular carcinoma in situ
A breast cancer that is believed to arises_from Schwann cells.
A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata.
Li-Fraumeni Familiar cancer Susceptibility syndrome
SBLA syndrome
sarcoma, breast, leukaemia and adrenal gland syndrome
A breast benign neoplasm that is located_in the breast ducts.
A breast cancer that is characterized by a prominent infiltrative border, unequivocal sarcomatous areas, and stromal overgrowth and arises_from the stroma, lined by an epithelial and myoepithelial bilayer, forming a leaflike structure. They tend to grow rapidly and present in middle-aged women (40s-50s).
Phyllodes breast neoplasm
Phyllodes tumor, malignant
breast malignant phyllodes tumour
malignant Mammary Phyllodes tumor
malignant Mammary Phyllodes tumour
malignant Phyllodes neoplasm
malignant cystosarcoma phyllodes
malignant phyllodes tumor
malignant phyllodes tumor of breast
malignant phyllodes tumour
malignant phyllodes tumour of breast
phyllodes breast tumor
phyllodes breast tumour
A breast cancer that has_material_basis_in abnormally proliferating cells derives_from mesenchymal cells.
sarcoma of breast
A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning.
A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells.
acinic cell carcinoma
Colonic mucinous adenocarcinoma
A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning.
An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.
Mucin-Secreting adenocarcinoma
Mucin-Secreting carcinoma
Mucous carcinoma
Pseudomyxoma peritonei with unknown primary site
mucin-producing adenocarcinoma
Colonic Signet Ring adenocarcinoma
submucosal invasive colon adenocarcinoma
A cecum carcinoma that derives_from epithelial cells of glandular origin.
Cecal adenocarcinoma
A contact dermatitis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign.
A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system.
food hypersensitivity
A syndrome that is characterized by true sepsis, acute rheumatic fever, rheumatoid arthritis, and adult onset Still’s disease.
Wissler's subsepsis allergica
Wissler's syndrome
A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding.
Allergic Granulomatous Angiitis
Allergic granulomatosis angiitis
Churg-Strauss vasculitis
A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
epithelial cancer
epithelioma
malignant Epithelioma
An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria.
Balkan endemic nephropathy
DEFN
Danubian endemic familial nephropathy
A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly.
Paratyphoid
Paratyphoid A fever
Paratyphoid B fever
Paratyphoid C fever
Paratyphoid fever A
Paratyphoid fever B
Paratyphoid fever C
paratyphoid a
paratyphoid b
paratyphoid c
A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.
GBM
adult glioblastoma multiforme
grade IV adult Astrocytic tumor
primary glioblastoma multiforme
spongioblastoma multiforme
A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord.
Astrocytic tumor
astrocytoma of Cerebrum
astrocytoma of brain
astroglioma
cerebral astrocytoma
A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.
Neuroglial tumor
glial cell tumor
glioma, malignant
malignant Neuroglial tumor
A gliomablastoma that is characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation.
Glioblastoma with sarcomatous component
A brain glioma that has_material_basis_in abnormally proliferating cells derives_from glial cells, has_symptom seizure, headaches, nausea and vomiting, memory loss, changes to personality, mood or concentration; and localized neurological problems.
Glioblastoma multiforme of brain
brain Glioblastoma
A glioblastoma that is characterized by a prevalence of bizarre, multinucleated giant cells.
Monstrocellular sarcoma
A malignant astrocytoma that occurs during adulthood.
adult astrocytoma
A malignant astrocytoma that is characterized by cells with regular, round to oval nuclei.
grade III Astrocytic tumor
juvenile astrocytoma
pediatric astrocytoma
Epileptic seizures - myoclonic
Epileptic seizures, myoclonic
Myoclonic seizure
Myoclonic seizure disorder
myoclonia epileptica
myoclonic epilepsy
cystic Hygroma
A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.
ILD
An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.
COLD
COPD
chronic obstructive airway disease
chronic obstructive lung disease
Gingival enlargement
acute gingivitis
chronic gingivitis
Non-Specific Granulomatous Orchitis
An opportunistic bacterial infectious disease that has_material_basis_in Acinetobacter.
An organ system cancer located_in the nervous system that affects the central or peripheral nervous system.
malignant neoplasm of nervous system
neoplasm of nervous system
nervous system neoplasm
neural neoplasm
neural tumor
tumor of the nervous system
A germ cell cancer that is derives_from a mixture of germs cells and embryonal cells.
germ cell and embryonal neoplasm
Fukuhara syndrome
Myoclonic epilepsy - ragged red fibers
Myoclonus epilepsy AND ragged red fibers
Myoclonus with epilepsy and with Ragged Red Fibers
A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles.
TOS - Thoracic outlet syndrome
A parasitic helminthiasis infectious disease that involves parasitic infection of dogs, cats and foxes with Toxascaris leonina causing damage to the lining of the intestine. The symptoms include diarrhea, vomiting and loss of appetite.
A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia.
A lymphopenia that is caused by a reduction of CD4+ T lymphocytes.
idiopathic CD4-positive T-lymphocytopenia
A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with cysts and papillary endophytic projections.
An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed.
An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures and exhibit compressive, destructive growth that replaces the normal tissue.
Infiltrating and papillary adenocarcinoma
infiltrating papillary adenocarcinoma
A carcinoma that is derives_from epithelial cells with finger like projections.
A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions.
serous adenocarcinoma
serous carcinoma
renal and ureteral tumor
A gastrointestinal system benign neoplasm located_in the hepatobiliary system.
hepatobiliary tumors
A gastrointestinal system disease that is located_in the liver and/or biliary tract.
liver and biliary tract disease
An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system.
GI tumor
digestive system cancer
gastrointestinal tract cancer
A gallbladder benign neoplasm composed of epithelial tissue on papillae of vascularized connective tissue.
A biliary tract cancer that is located_in the gallbladder.
gallbladder Ca
gallbladder neoplasm
localized malignant gallbladder neoplasm
malignant neoplasm of gallbladder
malignant tumor of the gallbladder
malignant tumour of gallbladder
tumor of the gallbladder
gastric outflow obstruction
A syndrome that is characterized by tumors in at least two endocrine glands.
Multiple endocrine adenomatosis
Multiple endocrine neoplasia syndrome
A rectal disease that involves inflammation of the rectal mucosa, which results from infection, inflammatory bowel disease, or radiation. Sexually transmitted pathogens (Neisseria gonorrhoeae, Chlamydia trachomatis, herpes simplex virus 1 and 2, Treponema pallidum) and enteric pathogens (Campylobacter, Shigella, Salmonella) are involved in the disease. Symptoms are rectal discomfort and bleeding.
Nontraumatic tear of anus
Solitary anal ulcer
Ulcer of anus
anal disease
anal fissure
anal fissure and fistula
anal ulcer
fissure in ano
An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin.
A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis.
hepatic porphyria
Dermatosis of scalp
A pigmentation disease characterized by velvety, darkening of the skin usually in intertriginous areas.
keratosis nigricans
Giant cell tumor of Tenosynovium
Giant cell tumor of tendon sheath
Giant cell tumour of Tenosynovium
Giant cell tumour of tendon sheath
fibrous histiocytoma of tendon sheath
tenosynovial giant cell tumour
A skin disease that is characterized by induration of the skin, especially of the neck and upper trunk, has_symptom skin hardening or stiffening, and is associated with infections (especially streptococcal), hematologic malignancies, diabetes, and adverse drug reactions.
Buschke's scleredema
A connective tissue disease characterized by accumulation of glycosaminoglycan located_in the dermal tissue.
A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity.
loose skin
A familial hyperlipidemia that has_material_basis_in by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene on chromosome 19q13.
Remnant hyperlipidemia
carbohydrate induced hyperlipemia
familial hypercholesterolaemia with hyperlipaemia
familial type 3 hyperlipoproteinemia
An inherited metabolic disorder that involves the creation and degradation of lipids.
dyslipidemia
fatty acid metabolism disorder
Unilateral Segmental Cavernous hemangioma of the skin
Unilateral segmental cavernous hemangioma
dermal unilateral segmental cavernous angioma
Synovial neoplasm
tumor of Synovium
A skin carcinoma that has_material_basis_in squamous cells.
Epidermoid skin carcinoma
squamous cell carcinoma of skin
A skin disease that is characterized by distinctive skin changes, in which areas of the body lack skin color (hypopigmentation).
Bloch-Siemans syndrome
Incontinentia pigmenti achromians syndrome
Ito's nevus
incontinentia pigmenti achromians
nevus of Ito
Photodermatitis
A melanoma that is composed of spindled neoplastic cells arranged in sheets and fascicles.
Spitzoid malignant melanoma
spindle cell malignant melanoma
spindle cell melanoma
desmoplastic melanoma
neoplasm of skin
neoplasm of skin by site
skin neoplasm
tumor of the skin
A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities.
Epidermoid cell tumor
squamous cell tumor
glandular papilloma
A fallopian tube benign neoplasm that has_material_basis_in the serosa and is characterized by exophytic growth.
A skin benign neoplasm that is composed of epithelial cells and a fibrous stalk.
cutaneous papilloma
papilloma of skin
Inverted papilloma, squamous cell
Pure progressive muscular atrophy
progressive spinal muscular atrophy
oligodendroglial neoplasm
oligodendroglial tumor
pediatric Oligodendroglioma
Oligodendroglioma of spinal cord
Well differentiated Spinal Cord Oligodendroglioma
A spinal cancer that is located in the spinal cord and has_material_basis_in glial cells.
Glial neoplasm Spinal Cord
Glial tumor of spinal cord
glioma of spinal cord
adult brain oligodendroglioma
grade II adult Oligodendroglial tumor
A brain glioma that has_material_basis_in oligodendrocytes.
Oligodendroglioma of brain
myelopathy
A congenital structural myopathy characterized by generally non-progressive muscle weakness of varying severity; certain muscle fibers show the presence of rod-like structures called nemaline bodies.
Nemaline body disease
nemaline rod myopathy
rod myopathy
A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells.
Psammomatous schwannoma
schwannoma
A peripheral nervous system neoplasm that is located in the connective tissue surrounding nerves.
neoplasm of the nerve Sheath
nerve sheath tumour
A neurilemmoma with a predominantly cellular growth but no Verocay bodies.
cellular Neurinoma
A neurilemmoma that is located_in the 12th cranial nerve.
Hypoglossal Schwannoma
neoplasm of hypoglossal nerve
tumor of Hypoglossal nerve
Cerebellopontine Angle Neurinoma
vascular myelopathies
A brain stem cancer that is characterized by neoplasms in the fossa located_in cerebellopotine angle.
cerebellopontine angle tumour
neoplasm of the Cerebellopontine Angle
Trigeminal Neurilemmoma
Trigeminal schwannoma
Schwannomatosis
Melanotic Schwannoma
Pigmented Neurilemmoma
Pigmented schwannoma
Plexiform Neurinoma
Plexiform neurilemmoma
An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin.
congenital junctional epidermolysis bullosa
A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms.
HTLV-associated myelopathy
Tropical spastic paralysis
Tropical spastic paraplegia
A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.
HLD1
Leukodystrophy, sudanophilic
PMD
Pelizaeus Merzbacher brain sclerosis
Pelizaeus-Merzbacher brain sclerosis
diffuse familial brain sclerosis
hypomyelinating leukodystrophy 1
sudanophilic leukodystrophy, Paelizeus-Merzbacher type
An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.
disorder of lysosomal enzyme
inborn lysosomal enzyme disorder
lysosomal storage metabolism disorder
A central nervous system disease that is characterized by damage to the myelin sheath present around nerve axons.
demyelinating disorder
Somatosatinoma of Jejunum
jejunal delta cell somatostatin producing tumor
Jejunal tumor
neoplasm of jejunum
tumor of jejunum
A spinal cord disease that is characterized by inflammation of the white matter or gray matter of the spinal cord.
Complex regional pain syndrome, type II
Complex regional pain syndromes
Stenosis of trachea
stomach dilatation
A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system.
Microglioma
primary CNS lymphoma
A pneumonia that is defined as an acute lung injury after the inhalation of foreign material such as regurgitated acidic gastric contents, petroleum products and laxative oils. This syndrome occurs in patients who have a marked disturbance of consciousness such as that resulting from a drug overdose, seizures, a massive cerebrovascular accident, or the use of anesthesia. Aspiration of gastric contents results in a chemical burn of the tracheobronchial tree and pulmonary parenchyma, causing an intense parenchymal inflammatory reaction. The disease has_symptom non-productive cough, has_symptom tachypnea, has_symptom bronchospasm, has_symptom bloody sputum, has_symptom frothy sputum, or has_symptom respiratory distress, 2-5 hrs after aspiration.
Chemical pneumonitis
Mendelson's Syndrome
An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent.
Exogenous lipoid pneumonia
Lipoid pneumonitis
A rhabdomyosarcoma wherein the mesenchymally-derived malignant cells resemble the primitive developing skeletal muscle of the embryo; it occurs most often in the head and neck area or in the genital or urinary organs.
A skeletal muscle cancer that arise from skeletal muscle progenitors.
Pleomorphic rhabdomyosarcoma, adult type
anaplastic Rhabdomyosarcoma
A prostate rhabdomyosarcoma that is most common in children and that is characterized by a high degree of malignancy, both local rapid growth with formation of large pelvic masses, often leading to renal failure due to urethral obstruction, and systemic spread, commonly to the lungs, liver and bone.
Embryonal Rhabdomyosarcoma of the prostate
A rhabdomyosarcoma and sarcoma of prostate that is located_in the prostate.
Rhabdomyosarcoma of the prostate
embryonal extrahepatic bile duct rhabdomyosarcoma
A rhabdomyosarcoma and sarcoma of bile duct that is located_in the bile duct.
rhabdomyosarcoma of the bile duct
Botryoid sarcoma
Botryoid-type Embryonal Rhabdomyosarcoma
sarcoma botryoides
An orbit rhabdomyosarcoma that is characterized by elongated to round spindle cells with features of skeletal muscle in different stages of embryogenesis with a highly eosiniphilic cytoplasm and hyperchromatic nuclei.
Embryonal Rhabdomyosarcoma of the orbit
An orbit sarcoma that is that arises from primitive pleuripotential mesenchymal cells that possess the ability to differentiate into striated muscle, most often in young children.
Rhabdomyosarcoma of orbit
Rhabdomyosarcoma of the orbit
A vascular disease that is characterized by a restriction in blood supply to tissues.
A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21.
Job syndrome
Job's syndrome
hyperimmunoglobulin E syndrome
hyper IgE recurrent infection syndrome 1
A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection.
phagocytic dysfunction
An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has_material_basis_in heterozygous mutation in either KIT or SNAI2 on chromosome 4q12 or 8q11.21, respectively.
PIEBALD TRAIT
Partial albinism
A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity.
A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, liver, lymph nodes, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed.
Bridges-Good syndrome
CGD
Congenital dysphagocytosis
Quie syndrome
An ovarian cystadenoma that is characterized by the presence of mucin.
Ovarian mucinous Cystadenoma
mucinous cystadenoma of ovary
An ovarian benign neoplasm that has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed.
Cystoma Serosum simplex
simple cystoma of ovary
simple cystoma of the ovary
A breast fibrocystic disease that is characterized by the presence of epithelial cell hyperplasia and the absence of epithelial atypia.
Fibrocystic change, proliferative type with atypia
Fibrocystic disease, Proliferative type with Atypia
Proliferating Lesion of breast without Atypia
Proliferating Lesion of the breast without Atypia
Proliferative Fibrocystic Change
proliferative type fibrocystic change of breast
A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus.
An immune system cancer located_in the thymus.
Thymic tumor
neoplasm of thymus
thymic neoplasm
Medullary Thymoma
Thymoma, medullary
Thymoma, mixed type
A thymoma that is an epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia.
epithelioid Thymoma
Infiltrating Thymoma
Thymoma malignant Invasive
A thymus cancer that derives_from epithelial cells. The tumor cells in a thymic carcinoma look very different from the normal cells of the thymus, grow more quickly, and have usually spread to other parts of the body when the cancer is found.
Thymoma, malignant
malignant Thymoma
A viral infectious disease that results in infection of primates, rodents and humans, located in skin, has_material_basis_in Monkeypox virus, which is transmitted by contact with the animal's blood, body fluids, rash, or with the body fluids of a sick person, transmitted by fomites, and transmitted by respiratory droplets. The infection has symptom fever, has symptom muscle ache, has symptom headache, and has symptom lymphadenopathy.
A viral infectious disease that results_in infection, located_in skin, has_material_basis_in Vaccinia virus, which is used as a live vaccine against smallpox. The virus is transmitted_by contact with the vaccination site before it has healed, or transmitted_by fomites that have been contaminated with live virus from the vaccination site. The infection has_symptom rash, has_symptom fever, and has_symptom body aches.
A cell type benign neoplasm that is composed_of a mixture of gonadal elements, such as large primordial germ cells, immature Sertoli cells or granulosa cells of the sex cord, and gonadal stromal cells (which comprises the granulosa, theca, and fibrocyte cells).
A notochordal cancer that derives_from cellular remnants of the notochord.
notochordoma
An embryonal cancer and bone cancer and mesenchymal cell neoplasm that is located_in the notochord.
notochordal tumor
A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain.
A mixed germ cell tumor that is a mixture of teratoma with embryonal carcinoma, or with choriocarcinoma, or with both.
mixed Embryonal carcinoma and teratoma
A germ cell cancer that occurs in many forms.
mixed germ cell neoplasm
mixed germ cell tumour
mixed teratoma and seminoma
A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers.
An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes.
primary extragonadal embryonal carcinoma
A dermatitis that is characterized by chronic itching or scaling.
A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system.
An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.
Atopic neurodermatitis
Besnier's prurigo
allergic dermatitis
atopic eczema
A mood disorder that involves alternating periods of mania and depression.
Manic Bipolar Affective disorder
Manic Depressive disorder
Manic bipolar I disorder
bipolar depression
bipolar disorder manic phase
manic depression
manic disorder
mixed bipolar disorder
Depressive-manic psych.
A cell type benign neoplasm that is primarily located in the kidneys but may be found in the lungs, liver or other organs and is derived from perivascular epithelioid cells.
A cell type benign neoplasm that is composed of lipocytes.
LIPOMATOSIS, FAMILIAL MULTIPLE
Lipomatous neoplasm
Lipomatous tumor
benign lipomatous tumor
benign tumor of Adipose tissue
multiple lipomatosis
tumor of adipose tissue
malignant perivascular cancer
A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas.
lung lymphangioleiomyomatosis
lymphangiomyomatosis
pulmonary lymphangioleiomyomatosis
A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.
ALS
Lou Gehrig's disease
motor neuron disease, bulbar
A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.
GM2 gangliosidosis, type 1
hexosaminidase A deficiency
A gangliosidosis that is characterized by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes.
gangliosidosis GM2
A gangliosidosis that is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1 (GLB1) resulting in build up of GM1 ganglioside.
Beta-galactosidase deficiency
deficiency of beta-galactosidase
gangliosidosis GM1
A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13.
Sandhoff Jatzkewitz disease
A cognitive disorder that involves a disturbance in mood as the predominant underlying feature.
episodic mood disorder
Purpuric disorder
Focal motor seizure
epilepsy, focal motor
A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.
epilepsy, temporal lobe
A childhood electroclinical syndrome characterized by partial seizures involving the rolandic area of the brain and electroencephalographic centrotemporal sharp waves.
BCECTS
benign Rolandic epilepsy
benign childhood epilepsy with centrotemporal spike
rolandic epilepsy
sylvan seizures
benign epilepsy with centrotemporal spikes
A focal epilepsy that is characterized by recurring seizures that affect one hemisphere of the brain.
A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue.
A personality disorder that is characterized by a pattern of excessive emotionality and attention-seeking, including an excessive need for approval and inappropriately seductive behavior, usually beginning in early adulthood.
A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone.
Osteitis fibrosa cystica generalisata
Von Recklinghausen's bone disease
hyperparathyroid bone disease
A bone disease that results_in inflammation of the located_in bone.
Inflammatory disorder of bone
bone inflammatory disease
osteitis
A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase).
Mucolipidosis type I
sialidosis
A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts.
xanthelasmatosis
A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin.
Osteogenic sarcoma
Skeletal sarcoma
bone tissue neoplasm
osteoid sarcoma
A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic connective tissue that is capable of developing into connective tissue, such as bone, and cartilage, the lymphatic system, and the circulatory system.
benign miscellaneous mesenchymal tumor
mesenchymal tumor
osseous hemangiosarcoma
malignant fibrous Histiocytoma of the bone
A bone sarcoma characterized by a herringbone or fascicular disposition of atypical, monomorphic fibroblasts and is always negative for any specific marker.
A connective tissue cancer that has_material_basis_in fibrous connective tissue and characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern.
Fibrocytic tumor
fibrosarcoma of soft tissue
fibrous tissue neoplasm
localised Osteogenic sarcoma
localised osteosarcoma
localized Osteogenic sarcoma
extraskeletal Osteogenic sarcoma
extraskeletal osteosarcoma
Aneurysm of coronary vessels
Aneurysmal lesion of coronary artery
Arteriovenous aneurysm of coronary vessels
A peripheral primitive neuroectodermal tumor that is located_in bone.
Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor
bone Ewing sarcoma
bone localized Ewing sarcoma
bone localized Ewing's sarcoma
localized Skeletal Ewing's sarcoma
Ewing's sarcoma of bone
bone Ewing's sarcoma
A connective tissue cancer that has_material_basis_in neural crest cells derives_from undeveloped, undifferentiated neuroectoderm.
Ewing's family localized tumor
Ewing's sarcoma/peripheral primitive neuroectodermal tumor
Ewing's tumor
Ewings sarcoma
Ewings sarcoma-primitive neuroectodermal tumor
PNET of Thoracopulmonary Region
localized Ewing sarcoma
localized Ewing's sarcoma
localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor
localized Ewing's tumor
localized peripheral primitive neuroectodermal tumor
peripheral primitive neuroectodermal tumor
XIth Cranial nerve tumors
neoplasm of accessory nerve
A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage.
Cartilaginous cancer
chondrosarcoma of bone
primary chondrosarcoma of the bone
chondrosarcomatous Osteogenic sarcoma
Parosteal Osteogenic sarcoma
juxtacortical osteosarcoma
Surface Osteosarcoma
Osteosarcoma of bone
primary Osteosarcoma of bone
Round cell osteosarcoma
small cell Osteosarcoma
Liposarcoma of the bone
A connective tissue cancer that arises in fat cells in deep soft tissue retroperitoneum and the extremities.
A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis.
A mouth disease that is relating to or affecting the structures surrounding and supporting the teeth.
disease of supporting structures of teeth
periodontium disorder
An ectodermal dysplasia that is characterized by palmoplantar keratoderma associated with early-onset periodontitis and has_material_basis_in homozygous or compound heterozygous mutation in the cathepsin C gene on chromosome 11q14.
Papillon Lefevre syndrome
Papillon-Lefvre syndrome
A glossopharyngeal nerve disease that is characterized by involvement of the accessory nerve (eleventh cranial nerve).
Eleventh nerve disorder
disorder of 11th nerve
disorder of accessory [11th] nerve
disorder of accessory nerve
A keratosis characterized by abnormal thickening of the palms and the soles.
Keratosis palmaris et plantaris
Palmoplantar Keratoderma
An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.
CHD
Coronary disease
coronary arteriosclerosis
coronary heart disease
A pituitary gland disease resulting from excessive production of antidiuretic hormone (ADH).
syndrome of Inappropriate Antidiuretic Hormone Secretion
syndrome of inappropriate secretion of ADH
syndrome of inappropriate secretion of antidiuretic hormone
syndrome of inappropriate vasopressin secretion
A lymphatic system disease that is characterized by an excessive number of histiocytes.
Hand Schuller Christian disease
chronic Histiocytosis X
disorder of carotid artery
A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain.
arterial occlusive disease
A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.
Alpha-D-mannosidosis
alpha-mannosidase deficiency
deficiency of alpha-mannosidase
neoplasm of glossopharyngeal nerve
tumor of Glossopharyngeal nerve
A cranial nerve disease that is located_in the ninth cranial nerve or its nuclei in the medulla.
ninth cranial nerve disease
Tumour of optic nerve
neoplasm of optic nerve
tumor of Second Cranial nerve
neoplasm of trochlear nerve
tumor of Trochlear nerve
An inner ear disease that is located in the vestibular system.
Vertigo, vestibular disorder
A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle.
A brain disease that is characterized by inflammation of the brain tissue occurring as a result of an underlying condition.
A acute laryngitis which is caused by viral infection.
A laryngeal disease involving an inflammation of the larynx leading to hoarse voice or a complete loss of voice due to irritation of the vocal cords caused by viral, bacterial or fungal infection, inflammation due to overuse of the vocal cords and excessive coughing, smoking, or alcohol consumption.
A breast adenocarcinoma that has_material_basis_in epidermal Paget cells, which are malignant glandular epithelial cells with abundant and clear cytoplasm, usually containing mucin, and pleomorphic and hyperchromatic nucleus.
Paget cell neoplasm
Paget's disease
Paget's disease of the breast
mammary Paget disease
Paget's disease of scrotum
scrotum Paget disease
carcinoma of scrotum
Paget's disease of anus
anal Paget disease
Paget's disease of the anus
An anal carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin.
adenocarcinoma of anus
adenocarcinoma of the anus
Paget's disease of penis
penis Paget disease
A penile cancer that is located_in the skin or tissues of the penis.
Penile carcinoma
carcinoma of penis
A female reproductive system disease that is located_in the uterus.
A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli.
Paget's disease of skin
cutaneous Paget disease
extramammary Paget's disease
A skin cancer that is located_in tissues of the skin and develops from epithelial cells.
carcinoma of skin
A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain.
In the context of the NND, the existing disease ontology entity 'brain infarction' is considered to be a type of cerebrovascular accident, equal to 'ischemic stroke' (MESH:D000083242) and similar as 'hemorrhagic stroke'.
A cervix disease that is characterized by the presence of enodcervical columnar epithelium on the ectocervix.
Erosion of cervix
A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated.
Lobular carcinoma
Lobular carcinoma of breast
Lobular carcinoma of the breast
A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast.
Mammary adenocarcinoma
adenocarcinoma of breast
A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Mammary carcinoma
carcinoma of breast
A thoracic disease that is located_in the breast.
malignant neoplasm of the Iris
malignant tumor of iris
tumor of the Iris
An ocular cancer that is located_in the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid. The uvea is the most common location of intraocular malignancy in adults and may commonly be caused by a subtype of cancer that arises from melanocytes.
Uveal tumor
malignant Uveal tumor
An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins.
An eye disease affecting the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid.
A plague that results_in infection located_in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection has_symptom fever, has_symptom chills, has_symptom prostration, has_symptom abdominal pain, has_symptom shock and has_symptom bleeding into skin and other organs.
A primary bacterial infectious disease that results_in infection, located_in lymph node, located_in vasculature or located_in lungs, has_material_basis_in Yersinia pestis, which is transmitted_by oriental rat flea (Xenopsylla cheopis) infected by feeding on rodents and other mammals, transmitted_by air, transmitted_by direct contact or transmitted_by ingestion of contaminated undercooked food.
A skin disease where there is a diffuse infection of connective tissue with severe inflammation of dermal and subcutaneous layers of the skin. Cellulitis can be caused by normal skin flora or by exogenous bacteria, and often occurs where the skin has previously been broken: cracks in the skin, cuts, blisters, burns, insect bites, surgical wounds, or sites of intravenous catheter insertion.
SMCD - systemic mast cell disease
systemic tissue mast cell disease
A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.
Turner's phenotype, karyotype normal
A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome.
Bonnevie-Ullrich syndrome
Gonadal dysgenesis - Turner
Karyotype 45, X
Monosomy X
XO syndrome
monosomy X syndrome
A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen.
Connective tissue disease overlap syndrome
mixed collagen vascular disease
An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which have signet ring appearance.
Signet ring carcinoma
Signet ring cell carcinoma
An extrahepatic bile duct carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of extrahepatic bile duct
adenocarcinoma of the extrahepatic bile duct
Signet Ring cell carcinoma of pancreas
pancreatic signet ring cell carcinoma
pancreatic signet ring cell adenocarcinoma
A pancreatic adenocarcinoma that derives_from pancreatic duct cells.
ductal adenocarcinoma of the pancreas
Signet Ring cell carcinoma of the gallbladder
gallbladder signet ring cell adenocarcinoma
mast cell hyperplasia
A gallbladder carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of the gallbladder
ampullary signet ring cell carcinoma
ampullary signet ring cell adenocarcinoma
An ampulla of Vater carcinoma that derives_from epithelial cells of glandular origin.
ampullary adenocarcinoma
adenocarcinoma of ampulla of vater
A breast adenocarcinoma that is characterized by the presence of numerous cells containing intracellular mucin, without large amounts of extracellular mucins.
Mammary Signet Ring cell carcinoma
signet ring cell carcinoma of breast
Signet Ring cell carcinoma of prostate
prostate signet ring cell carcinoma
prostate signet ring cell adenocarcinoma
A fibrosarcoma that is located_in the dermis laryer of the skin and that begins as a hard nodule and grows slowly.
MESH:C538219 added from NeuroDevNet [WAK].
Neurosarcoma
A brain stem infarction that is characterized by hoarseness, dizziness, nausea, located_in the lateral part of the medulla oblongata that develops from a blockage in the posterior inferior cerebellar artery or one of its branches or of the vertebral artery, has_symptom vertigo, has_symptom ipsilateral cerebellar signs, has_symptom contralateral sensory deficits of limbs and torso, has_symptom ipsilateral sensory deficits of face, has_symptom laryngeal, pharyngeal, and palatal hemiparalysis, has_symptom ipsilateral Horner's syndrome.
Posterior inferior cerebellar artery syndrome
Wallenberg syndrome
A brain infarction that is characterized by stroke of the brain stem that develops from blockage or narrowing in the arteries located_in the brainstem, has_material_basis_in damage to the cranial nerve nuclei and long tracts, has_symptom vertigo, has_symptom imbalance, has_symptom decreased level of arousal.
Brainstem infarction
A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.
CVA - Cerebral infarction
Cerebral infarct
A congenital structural myopathy that is characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature and that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13.
central core myopathy
A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3.
Lafora Progressive Myoclonic Epilepsy
Lafora's disease
MYOCLONIC EPILEPSY OF LAFORA
A progressive myoclonus epilepsy characterized by onset between 6 and 13 years of age of action- and stimulus-sensitive myoclonus, tonic-clonic seizures with ataxia, and a mild cognitive decline.
Unverricht - Lundborg disease
Unverricht's disease
Unverricht-Lundborg disease
A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain.
tumor of choroid plexus
tumor of the Choroid Plexus
choroid plexus neoplasm
A cerebrum cancer that is located_in the cerebral ventricles.
Intraventricular tumor of brain
cerebral ventricle neoplasm
neoplasm of the adult Choroid Plexus
adult choroid plexus tumor
childhood choroid plexus neoplasm
A sarcoma that has_material_basis_in mast cells.
A duodenal obstruction resulting from compression of the duodenum between the aorta and the superior mesenteric artery.
An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis.
mucinous Ascites
A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges.
meningeal neoplasm
meningothelial cell tumor
neoplasm of the meninges
primary Meningeal tumor
A hepatobiliary system cancer that is located_in the liver.
Ca liver - primary
Resectable malignant neoplasm of Liver
hepatic cancer
hepatic neoplasm
malignant hepato-biliary neoplasm
malignant neoplasm of liver
malignant neoplasm of liver, not specified as primary or secondary
malignant neoplasm of liver, primary
malignant tumor of liver
neoplasm of liver
non-resectable primary hepatic malignant neoplasm
primary liver cancer
primary malignant neoplasm of liver
resectable malignant neoplasm of the liver
Thrombosis of lateral venous sinus
Thrombosis transverse sinus
Thrombosis of cavernous venous sinus
Thrombosis of superior longitudinal sinus
Thrombosis of superior sagittal sinus
A sex cord-gonadal stromal tumor characterized by excessive proliferation of Sertoli cells.
tubular androblastoma
An ovarian benign neoplasm that is has_material_basis_in a mixture of gonadal elements.
A pancreatic carcinoma located_in the pancreatic duct.
malignant neoplasm of duct of Wirsung
pancreatic duct cancer
gestational trophoblastic neoplasia
hydatidiform mole
molar pregnancy
A placenta cancer that has_material_basis_in trophoblastic cells.
Chorioepithelioma
A choriocarcinoma that is characterized by low beta-hCG levels and arises from neoplastic transformation of intermediate trophoblastic cells.
Placental-Site Gestational Trophoblastic neoplasm
placental site trophoblastic tumour
A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems.
neurotoxicity
neurotoxicity syndrome
A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells.
Pseudomucinous cystadenocarcinoma
An ovarian cystadenocarcinoma that is characterized by the presence of mucin.
mucinous cystadenocarcinoma of ovary
An ovary adenocarcinoma that is characterized by the presence of cysts or cystic spaces.
cystadenocarcinoma of ovary
cystadenocarcinoma of the Ovary
An ovary adenocarcinoma that is characterized by the presence of mucin.
mucinous carcinoma of Ovary
Colloidal cystadenocarcinoma of the appendix
An appendix carcinoma that derives_from epithelial cells of glandular origin.
Appendiceal adenocarcinoma
A breast mucinous carcinoma that is characterized by both intracellular and extracellular mucin and cystic spaces are lined by tall columnar cells that contain profuse extracellular mucin.
A cervix disease that is characterized by the growth endometrial tissue that is located on the cervix.
Endometriosis of cervix
cervical Endometriosis
A breast adenocarcinoma in which at least one half of the tumor volume is extracellular mucin throughout.
Invasive mucinous breast carcinoma
mucinous carcinoma of breast
acute retinal necrosis
CANAVAN-VAN BOGAERT-BERTRAND DISEASE
Spongy degeneration of central nervous system
A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia).
Hypogonadism with anosmia
Kallman syndrome
Kallman's syndrome
familial hypogonadism with anosmia
An angiolipoma that is characterized by prominent vascularity that invades the surrounding deep tissue.
Angiolipoma, infiltrating
A lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma.
Angiolipoma of Extradural Spinal canal
Extradural tumor
A nervous system cancer that is located_in the central nervous system.
CNS neoplasm
central nervous system tumor
central nervous system tumors
malignant neoplasm of central nervous system
malignant tumor of CNS
neoplasm of central nervous system
An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size.
ruptured aortic aneurysm
A female reproductive organ cancer that is located_in the uterus.
CA - cancer of uterus
Tumour of uterus
malignant neoplasm of uterus
malignant uterine tumor
neoplasm of uterus
uterine tumor
uterus neoplasm
A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism.
Beta-D-mannosidosis
beta-mannosidase deficiency
lysosomal beta-mannosidase deficiency
A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).
childhood Spinal Cord neoplasm
Intramedullary Spinal teratoma
A teratoma that is located_in the central nervous system.
CNS teratoma
tumor of Conus Medullaris
tumor of Sella Turcica
neoplasm of the Hypothalamus
tumor of hypothalamus
Pituitary necrosis
A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex.
deficiency of pyruvic dehydrogenase
pyruvate dehydrogenase complex deficiency disease
pyruvate dehydrogenase deficiency
A urinary system disease that is located_in the bladder.
Urinary Bladder Disease
A metabolic acidosis characterized by buildup of lactate.
A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis.
deficiency of pyruvic carboxylase
A mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity.
Infantile necrotizing encephalomyelopathy
Leigh syndrome
juvenile subacute necrotizing encephalomyelopathy
subacute necrotizing encephalomyelopathy
A lysosomal storage disease characterized by increased sialic acid in the urine.
OMIM mapping confirmed by DO. [LS]. OMIM mapping submitted by NeuroDevNet. [LS].
A food allergy that develops_from exposure to and particularly consumption of wheat, and has_symptom that are both gastrointestinal and nongastrointestinal in nature, such as diarrhea, mouth and throat irritation, headache, hives, skin rashes, and anaphylaxis.
allergy to wheat
wheat allergic reaction
A hematologic cancer that has_material_basis_in mast cells.
Mast cell Proliferative disease
mast cell tumor
mastocytoma
A mast cell neoplasm that is characterized by collections of mast cells with a single or multiple (usually five or fewer individual) orange-brown to red-brown plaques or nodules ranging from 0.5 to 3.5 cm in diameter.
Solitary Mastocytoma of skin
Solitary mastocytoma
Charcot's syndrome
A brain disease that is characterized by nerve injury located_in olfactory nerve, occurring as a result of normal aging, trauma, mass lesion or other insult, and has_symptom impaired sense of smell, has_symptom anosmia or loss of smell.
disorder of 1st nerve
disorder of olfactory [1st] nerve
disorder of olfactory nerve
A childhood kidney neoplasm that is located_in the kidney, liver, muscle, heart, lung, soft tissues, skin and central nervous system.
Rhabdoid sarcoma
malignant rhabdoid tumour
rhabdoid tumor
A embryonal cancer that is located in the kidney.
renal Rhabdoid tumor
kidney rhabdoid tumor
pediatric renal tumor
A lung disease that is characterized by an inflammatory lesion that is composed of plasma cells and fibrous tissue.
Lymphocytic pseudotumor of lung
Sclerosing hemangiocytoma of lung
granuloma, plasma cell, pulmonary
A supratentorial cancer that is located_in the cerebrum.
cerebral cancer
neoplasm of cerebrum
tumor of Cerebrum
tumor of the lung
A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins.
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
A brachial plexus neuropathy that affects the chest, shoulder, arm and hand.
Brachial neuritis
Parsonage-Aldren-Turner syndrome
Asthesioneuroblastoma
Esthesioneuroblastoma
Esthesioneuroepithelioma
Olfactory Esthesioneuroblastoma
paranasal sinus Olfactory neuroblastoma
A peripheral nervous system disease that is characterized by damage to nerves in the upper shoulder of the brachial plexus, an area where nerves from the spinal cord branch into the arm nerves.
Brachial plexus disorder
brachial plexopathy
An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal colloid.
mucinous adenocarcinoma of anus
An anal canal cancer that derives_from epithelial cells of glandular origin.
adenocarcinoma of the anal canal
adenocarcinoma of anal canal
ampulla of Vater mucinous adenocarcinoma
A acute transudative otitis media which involves bloody effusion.
A non-suppurative otitis media and eustachian tube disorder with a sudden onset and a short course.
acute non-suppurative otitis media
acute nonsuppurative otitis media
acute otitis media with effusion
acute secretory otitis media
mucinous carcinoma of the bile duct
A uterine ligament adenocarcinoma that produces mucin.
uterine ligament mucinous adenocarcinoma
An integumentary system disease that is located_in skin.
Genodermatosis
skin and subcutaneous tissue disease
malignant tumor of Olfactory nerve
primary malignant neoplasm of olfactory nerve
A uterine ligament cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue.
A cervical adenocarcinoma that derives_from mucin producing epithelial cells.
A cervix carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma cervix uteri
adenocarcinoma of cervix
adenocarcinoma of the uterine Cervix
A prostate adenocarcinoma that produces mucin and is characterized by non-cystic structure.
acinar Colloid prostate adenocarcinoma
A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.
A fallopian tube benign neoplasm that produces mucin.
A fallopian tube carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of the fallopian tube
An endometrial adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.
uterine Corpus mucinous adenocarcinoma
A rectal adenocarcinoma that produces mucin.
Colloidal adenocarcinoma of rectum
A bladder carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of bladder
adenocarcinoma of the urinary bladder
bladder adenocarcinoma, Not Otherwise Specified
An ovarian carcinoma that derives_from epithelial cells of glandular origin.
Ovarian adenocarcinoma
ovarian adenoacanthoma
adenocarcinoma of the ovary
mucinous adenocarcinoma of the stomach
A stomach carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of stomach
stomach adenocarcinoma
extraosseous plasmacytoma
plasmacytoma, extramedullary
Myeloma - solitary
Myeloma, solitary
Solitary myeloma
Solitary plasmacytoma
Isolated osseous plasmacytoma
Solitary plasmacytoma of bone
Solitary plasmacytoma of the Chest Wall
A acute sanguinous otitis media caused by an allergen.
A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks.
Infection by Theileria
theileriosis
A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium.
Warty carcinoma
verrucous squamous carcinoma
verrucous squamous cell carcinoma
An acquired metabolic disease that is characterized by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods.
Nutritional disorder
A vulva squamous cell carcinoma that is characterized as locally invasive, with warty-appearing, highly differentiated, and variably keratinized lesions.
verrucous carcinoma of Vulva
bladder verrucous squamous cell carcinoma
A carcinoma of bladder that is manifested in squamous cells of the bladder.
Epidermoid carcinoma of the urinary bladder
squamous cell carcinoma of bladder
A cervical squamous cell carcinoma that is characterized by a hyperkeratotic, undulating, warty surface and invades the underlying stroma in the form of bulbous epithelial pegs with a pushing border, broad papillae that lack fibrovascular cores and the absence of koilocytosis. It shows no more than minimal nuclear atypia and does not exhibit infiltrative growth.
A cervix carcinoma that has_material_basis_in squamous cells of the cervix.
squamous cell carcinoma of cervix
squamous cell carcinoma of the Cervix Uteri
oesophagus verrucous carcinoma
verrucous carcinoma of esophagus
verrucous carcinoma of oesophagus
verrucous carcinoma of the esophagus
An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.
SCC of esophagus
SCC of oesophagus
oesophagus squamous cell carcinoma
A cancer of urethra that shows squamous cell differentiation.
urethral Epidermoid carcinoma
verrucous carcinoma of the Larynx
A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.
A thrombophilia that is characterized by the tendency to form clots in the veins.
AT III deficiency
hereditary thrombophilia due to congenital antithrombin deficiency
A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.
A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation.
MITOCHONDRIAL COMPLEX IV DEFICIENCY
A syndrome that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene).
Indeterminate sex and pseudohermaphroditism
A vaginal discharge that is characterized by a whitish or yellow color.
Leukorrhea of vagina
discharge - leukorrhea
A vaginal disease that is characterized by the presence of discharge.
An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation.
Fibrosis of lung
A high grade glioma that is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates.
Granulome annulare
An ovarian disease that is characterized by the absence of ovulation.
A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene on chromosome Xp22.
An auditory system disease that is located_in the external ear.
Preauricular cyst
Preauricular sinus and fistula
Preauricular sinus or fistula
A soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. The symptoms include cough, fever, chest pain, sweating and shortness of breath.
Empyema of pleura
Empyema of pleura without fistula
Empyema with no fistula
Empyema with pleural fistula
Empyema without mention of fistula
Empyema, chest
Pleural empyema with fistula
Purulent pleurisy
Thorax abscess
abscess of pleural cavity
abscess of thorax
empyema
empyema with fistula
lung empyema
pleural empyema with no fistula
purulent pleuritis
pyothorax
A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT).
Bilirubin UDP glucuronyl transferase deficiency
Crigler Najjar syndrome
Crigler-Najjar syndrome, type I
disseminated superficial actinic porokeratosis
A bone disease that is located_in the joint.
Ankylosis of joint of ankle and/or foot
Ankylosis of joint of forearm
Ankylosis of joint of hand
Ankylosis of joint of lower leg
Ankylosis of joint of upper arm
Ankylosis of multiple joints
Infectious arthropathy
Joint ankylosis of the ankle and foot
Joint ankylosis of the ankle and/or foot
Joint ankylosis of the forearm
Joint ankylosis of the hand
Joint ankylosis of the lower leg
Joint ankylosis of the pelvic region and thigh
Joint ankylosis of the shoulder region
Joint ankylosis of the upper arm
ankylosis of ankle and foot joint
ankylosis of forearm joint
ankylosis of hand joint
ankylosis of joint of multiple sites
ankylosis of joint of pelvic region and thigh
ankylosis of joint of shoulder region
ankylosis of lower leg joint
ankylosis of upper arm joint
Chondroma of the CNS
A connective tissue benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification.
A cranial nerve disease that is characterized by complete or partial weakness or paralysis of the areas served by the affected nerve.
Cranial nerve Paralysis
An allergic contact dermatitis that is characterized by a delayed-type hypersensitivity cutaneous reaction in response to a photoantigen applied to the skin in individuals previously sensitized to the same substance, and has_symptom erythematous papules, vesicles, or eczema.
Photoallergic contact dermatitis
Photoallergic eczema
An allergic contact dermatitis that has_allergic_trigger members of the toxicodendron family, including urushiol producing poison ivy, poison oak, and poison sumac, has_symptom pruritic erythematous rash with papules, vesicles, and plaques, and has_material_basis_in a type IV hypersensitivity reaction.
Contact dermatitis due to Genus Toxicodendron
Rhus dermatitis
Shwartzman reaction
A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.
Diaphragmatic Hernia
Chromophobe adenoma of the Pituitary gland
A pituitary gland benign neoplasm that derives_from glandular epithelial cells.
adenoma of the Pituitary gland
Anomalous A-V excitation
Wolff-Parkinson-White pattern
anomalous atrioventricular excitation
OMIM mapping confirmed by DO. [LS]. OMIM mapping confirmed by DO. [SN].
neoplasm of Rathke's Pouch
tumors of Skull Base
malignant Diencephalic tumor
malignant diencephalic neoplasm
tumor of Diencephalon
Adamantinous Rathke's Pouch tumor
craniopharyngioma, adamantinomatous
Papillary Rathke's Pouch tumor
craniopharyngioma, papillary
Hemangiopericytic neoplasm
An intestinal disease characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms that has_material_basis_in heterozygous mutation in the serine/threonine kinase STK11 gene on chromosome 19p13.
Colonic hamartomatous polyp
Peutz Jeghers colon polyp
Peutz Jeghers polyp
Peutz-Jeghers polyp of small Intestine
gastric Peutz-Jeghers polyp
peutz-jeghers small bowel hamartoma
Seminal Vesicle neoplasm
seminal vesicle tumour
tumor of seminal vesicle
tumour of seminal vesicle
A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum.
male genital cancer
male reproductive system neoplasm
malignant neoplasm of male genital organ
malignant neoplasm of male genital organ or tract
malignant neoplasm of male genital organs
malignant tumor of male Reproductive system
malignant tumor of male genital organ
neoplasm of male genital organ
tumor of male Reproductive system
male genital neoplasm
A medulloblastoma that is characterized by cells that are larger than would be normally expected.
Vermis Medulloblastoma
adult brain medulloblastoma
A central nervous system embryonal tumor that occurs in adults.
adult CNS PNET
adult central nervous system primitive neuroectodermal neoplasm
adult central nervous system embryonal tumor
Medulloblastoma, melanotic
pediatric Medulloblastoma
A central nervous system embryonal tumor that occurs in childhood.
childhood central nervous system primitive neuroectodermal neoplasm
pediatric CNS PNET
childhood central nervous system embryonal tumor
A medulloblastoma that is characterized by the presence of nodular, collagenous areas which do not contain reticulin, surrounded by hypercellular areas which contain an intercellular reticulin fiber network.
Medulloblastoma with extensive nodularity
According to WHO ICDO Medulloblastoma with extensive nodularity is the same as desmoplastic nodular medulloblastoma.
A phlebitis that results from a blood clot in the vessel.
Phlebitis and thrombophlebitis of superficial vessels of lower extremities
Superficial thrombophlebitis of leg
Thrombophlebitis of a superficial leg vein
Thrombophlebitis of superficial veins of lower extremity
primary chronic pseudo-obstruction of colon
A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.
COCA 1
HNPCC - hereditary nonpolyposis colon cancer
Hereditary Defective Mismatch Repair syndrome
Hereditary non-polyposis colon cancer
Hereditary non-polyposis colon cancer syndrome
Hereditary non-polyposis colorectal cancer
Hereditary non-polyposis colorectal cancer syndrome
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colon cancer syndrome
Hereditary nonpolyposis colorectal cancer syndrome
hereditary nonpolyposis colorectal cancer
hereditary nonpolyposis colorectal neoplasm
AIP - acute intermittent porphyria
Pyrroloporphyria
porphyria intermittent acute
A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy.
A pancreatic cystadenoma that is characterized by the overproduction of insulin.
Insulin-Producing tumor of Islet cells
Islet cell adenoma
Eccrine Cystadenoma
Eccrine hidrocystoma of skin
apocrine cystadenoma
tubular Apocrine adenoma
A sweat gland benign neoplasm that is located_in an apical sweat gland.
Hidradenoma of skin
Sweat gland adenoma
Syringoadenoma
A vulvar disease that is characterized by inflammation of the vulva.
A bronchus cancer that has_material_basis_in epithelial cells.
BC - Bronchogenic carcinoma
A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.
cancer of lung
carcinoma of lung
bronchus neoplasm
neoplasm of bronchus
A non-small cell lung carcinoma that has_material_basis_in the squamous cell.
Epidermoid cell carcinoma of the lung
squamous cell carcinoma of lung
A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.
NSCLC
Non-small cell lung cancer
non-small cell lung carcinoma
A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.
bronchogenic lung adenocarcinoma
nonsmall cell adenocarcinoma
adenocarcinoma of lung
A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in LMNA on chromosome 1q22.
HGPS
Hutchinson Gilford syndrome
Hutchinson-Gilford Progeria syndrome
Hutchinson-Gilford disease
Ca main bronchus
malignant neoplasm of main bronchus
Dercum disease
An inner ear disease which involves inflammation of the inner ear.
inner ear infection
A viral infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses.
Overproduction of ACTH
pituitary-dependent Cushing disease
Adrenocortical hyperfunction
hyperadrenalism
hypercortisolism
An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Adrenal cortical carcinoma
carcinoma of the Adrenal cortex
An adrenal cancer that is located_in the cortex (steroid hormone-producing tissue) of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
carcinoma of the Adrenal gland
An adrenal gland disease that is located_in the adrenal cortex.
An endocrine gland cancer located_in the adrenal glands which are located above the kidneys.
adrenal cancer
adrenal neoplasm
malignant Adrenal tumor
malignant neoplasm of adrenal gland
neoplasm of adrenal gland
tumor of the Adrenal gland
An adrenocortical carcinoma that originates in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin.
Adrenal cortex adenocarcinoma
A restrictive cardiomyopathy that affects the endocardium and occurs with white blood cell proliferation, specifically of eosinophils.
Eosinophilic Endomyocardial disease
A differentiated thyroid gland carcinoma that has_material_basis_in follicular cells.
Follicular adenocarcinoma
Follicular adenocarcinoma, well differentiated
Follicular carcinoma
Thyroid adenocarcinoma
follicular thyroid carcinoma
A thyroid gland cancer that has_material_basis_in epithelial cells.
head and neck cancer, Thyroid
Follicular adenocarcinoma, trabecular
Trabecular Follicular carcinoma
Trabecular adenocarcinoma
trabecular carcinoma
papillary follicular thyroid adenocarcinoma
A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer abd arises from the follicular cells of the thyroid gland.
Papillary carcinoma of the Thyroid gland
An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium.
Cardiomyopathy, constrictive
primary restrictive cardiomyopathy
Familial restrictive cardiomyopathy
Xref MGI. OMIM mappings 115210, 612422 added from NeuroDevNet [WAK].
A thyroid gland carcinoma that has_material_basis_in parafollicular cells.
Medullary carcinoma of the Thyroid gland
Ultimobranchial thyroid tumor
Ultimobranchial thyroid tumour
medullary thyroid carcinoma
A cardiomyopathy that is characterized by the pathology occuring outside of the myocardium.
A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13.
Hallervorden-Spatz disease
Hallervorden-Spatz syndrome
NBIA1
Pigmentary pallidal degeneration
brain Iron Accumulation type I syndrome
neurodegeneration with brain iron accumulation 1
pantothenate kinase-associated neurodegeneration
A cranio-facial dystonia that is accompanied by blepharospasm.
A parasitic helminthiasis infectious disease that involves infection of the intestine in goats, pigs and humans by the nematode Oesophagostomum bifurcum. The symptoms are a low-grade fever, tenderness in the lower-right quadrant and painless cutaneous masses in the lower abdominal region. Rarely, Oesophagostomum spp will perforate the bowel wall, causing purulent peritonitis or migrate to the skin, producing cutaneous nodules.
Infection by Oesophagostomum
A trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus Ostertagia.
A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.
An organ system cancer that is located_in the kidneys, ureteres, bladder or urethra.
A Bartholin's gland carcinoma that derives_from transitional epithelial cells.
Bartholin gland transitional cell carcinoma
Bartholin's gland transitional cell carcinoma
A vulva carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in Bartholin's gland.
Bartholin gland carcinoma
carcinoma of Bartholin's gland
A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
An ovarian epithelial cancer that derives_from epithelial transitional cells.
malignant ovarian transitional cell neoplasm
ovarian transitional cell cancer
transitional cell carcinoma of Ovary
ovarian transitional cell neoplasm
An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary.
Cylindrical cell carcinoma
An endometrial carcinoma that derives_from transitional epithelial cells.
A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder.
bladder transitional cell carcinoma
transitional cell carcinoma of bladder
urinary bladder urothelial carcinoma
urothelial bladder carcinoma
A urinary bladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
carcinoma of urinary bladder
A fallopian tube carcinoma that derives_from epithelial transitional cells.
fallopian tube transitional cell carcinoma
A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs.
A prostate carcinoma that derives_from transitional epithelial cells.
transitional cell carcinoma of prostate
A transitional cell carcinoma that has several papillary fronds with central fibrovascular core lined by transitional type epithelium.
Papillary transitional cell carcinoma
An urethra cancer that is characterized by cancer cells forming in the renal pelvis and ureter.
urethral transitional cell carcinoma
A transitional cell carcinoma that has sarcoma-like components arising from the malignant transitional epithelium.
transitional cell carcinoma, sarcomatoid
transitional spindle cell carcinoma
A carcinoma that is characterized by the presence of spindle cells and anaplastic morphologic features.
spindle cell carcinoma
A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located in tongue, located in palate, located in maxilla or located in mandible.
A ureteral disease that is characterized_as a congenital anomaly in which the distal end of the ureter swells as it enters the bladder.
Leather-bottle stomach
An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma.
adenocarcinoma with Productive Fibrosis
A skin hemangioma that is characterized by the presence of small red dots that cluster together to form a linear or snake-like array or ring-shaped pattern located_in the blood vessels of the skin.
Angioma serpiginosum of skin
A stomach disease that is an inflammation of the lining of the stomach.
Erosive Gastritis
Erosive gastropathy
acute gastric mucosal erosion
A gastrointestinal system disease that is located_in the mouth.
A gastritis that involves inflammation of the stomach lining caused by bacteria. The disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting.
A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by fungal infection in immunocompromised patients.
An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom constipation, has_symptom nausea, and has_symptom vomiting.
Tuberculosis of gastrointestinal tract
Tuberculosis of intestines, peritoneum, and mesenteric glands
tuberculosis of intestines, peritoneum and mesenteric glands
malignant tumor of Skeletal Muscle
tumor of Skeletal Muscle
A musculoskeletal system cancer that is located_in muscle.
malignant neoplasm of muscle
malignant tumor of muscle
malignant tumor of the Muscle
myosarcoma
A rhabdomyosarcoma and sarcoma of liver that are located_in the liver.
Rhabdomyosarcoma of Liver
Rhabdomyosarcoma of the CNS
A rhabdomyosarcoma that is located_in the mediastinum and affects children and adolescents.
Rhabdomyosarcoma of mediastinum
A sarcoma and malignant mediastinal mesenchymnal tumor that is located_in the mediastinum.
sarcoma of mediastinum
alveolar childhood rhabdomyosarcoma
A rectum sarcoma that is located_in the rectum in which the cancer cells are thought to arise from skeletal muscle progenitors.
Rhabdomyosarcoma of rectum
A prostate cancer that is located_in the prostate.
sarcoma of the prostate
Rhabdomyosarcoma with ganglionic differentiation
A gallbladder sarcoma that is located_in the gallbladder that has_material_basis_in cells that normally develop into skeletal (voluntary) muscles.
Rhabdomyosarcoma of the gallbladder
A sarcoma that is located_in the gallbladder.
malignant mesenchymal tumor of gallbladder
An ovary sarcoma that arises from skeletal muscle progenitors.
Rhabdomyosarcoma of Ovary
A breast sarcoma that arises from skeletal muscle cells.
Rhabdomyosarcoma of the breast
A testis sarcoma that arises from mesenchymal cells and is located_in the testis.
Rhabdomyosarcoma of testis
A sarcoma and malignant neoplasm of testis that is located_in the testis.
sarcoma of testis
A sarcoma and malignant tumor of extrahepatic bile duct that is located_in the bile duct.
sarcoma of the bile duct
mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma
A rhabdomyosarcoma and sarcoma of the anus that is located_in the anus.
rhabdomyosarcoma of anus
A sarcoma and malignant neoplasm of anus that is located_in the anus.
sarcoma of anus
A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice.
Tuberculosis of liver
An intestinal disease that is located_in the duodenum.
duodenal disease
duodenum disorder
cystadenocarcinoma of pancreas
A pancreatic carcinoma that derives_from epithelial cells of glandular origin.
pancreas adenocarcinoma
adenocarcinoma of the pancreas
biliary cystadenocarcinoma
A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve.
Tricuspid stenosis
A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right).
Valvular heart disease
A tricuspid valve disease that is characterized by failure of the heart's tricuspid valve to close properly during systole. As a result, with each heart beat, blood is pumped out from the right side of the heart in the opposite direction to normal.
Tricuspid incompetence
Tricuspid regurgitation
Tricuspid valve regurgitation
A germ cell and embryonal cancer that derives_from trophoblastic tissue.
Trophoblastic tumor
A testicular germ cell cancer characterized by the absence of a seminomatous component.
Testicular Non-Seminomatous Germ Cell Tumor
testicular germ cell tumor non-seminomatous
disorder of liver
hepatic disorder
A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss.
Dyspraxia
Dyspraxia syndrome
A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice.
A parasitic infectious disease that is caused by organisms that live primarily on the surface of the host.
ectoparasitism
parasitic ectoparasitic infectious disease
A cervical carcinosarcoma that is located_in the cervix.
cervical Muellerian adenosarcoma
cervical Mullerian adenosarcoma
A cervical cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components.
cervical malignant mixed Mullerian tumor
cervical malignant mixed mesodermal mullerian tumor
cervical mixed epithelial and mesenchymal neoplasm
An adenosarcoma and malignant uterine body mixed neoplasm that derives_from the glands that line the uterus.
uterine Corpus mullerian adenosarcoma
adenosarcoma of uterine corpus
A uterine corpus cancer that has_material_basis_in more than one type of cell.
malignant mixed tumor of Corpus Uteri
An ovarian carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium.
Ovarian mullerian Adenosarcoma
A vaginal carcinosarcoma derives_from the glands that line the uterus.
Colonic neuroendocrine tumor
intestinal neuroendocrine benign tumour
neuroendocrine tumor of Intestine
neuroendocrine tumour of Intestine
An integumentary system disease that is located_in nail.
A pyoderma that is characterized by brown, scaly skin patches that are generalized or iterdigital (between the toes or fingers) and is caused by infection with corynebacterium minutissimum.
Infection due to Corynebacterium minutissimum
A bile duct disease that is located_in the common bile duct.
A biliary tract disease located_in one or more bile ducts.
bile duct disorder
disorder of bile duct
A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree.
sphincter of oddi dysfunction
A meningioma by site and orbital neoplasm that is located_in the area around the eye sockets of the skull and results_in pressure in the eyes, giving a bulging appearance.
A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis.
malignant neoplasm of orbit
neoplasm of orbit proper
orbit cancer
orbital tumor
GI adenoma
gastrointestinal neuroendocrine benign tumor
A chordoma that is located_in the skull base.
Chordoma of the Skull Base
A chordoma that histologically derives_from chordoma, derives_from chondroma, and derives_from chondrosarcoma.
Chordoma of Spine
A tooth disease characterized by discolored, opalescent teeth that has_material_basis_in mutation in the DSPP gene on chromosome 4q22.
A syphilis that is the first stage of syphilis, marked by the development of a chancre, which is characterized by mononuclear leukocytic infiltration, macrophages, and lymphocytes.
Symptomatic early syphilis
early symptomatic syphilis
early syphilis, symptomatic
A syphilis that is characterized as the second stage of syphilis which appears from 2 to 6 months after primary infection, and is marked by lesions especially in the skin but also in organs and tissues, and that lasts from 3 to 12 weeks.
secondary syphilis of viscera or bone
An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells.
CA - skin cancer
malignant neoplasm of skin
melanoma and Non-melanoma skin cancer
cancer of skin
A brain cancer that is characterized by small, round and blue cells with rosette patterns on histology, that has_material_basis_in abnormally proliferating cells and derives_from precursor cells called blast cells.
neuroblastoma of Cerebrum
neuroblastoma of brain
neuroblastoma of the cerebral hemisphere
A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years.
syphilitic chancre
An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues.
autoimmune hypersensitivity disease
hypersensitivity reaction type II disease
Rh incompatibility affecting management of mother
A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.
Scleroderma
Scleroderma syndrome
progressive systemic sclerosis
systemic sclerosis
Normocalcemic pseudohypoparathyroidism
A speech disorder that involves mispronouncing speech sounds by omitting, distorting, substituting, or adding sounds which can make speech difficult to understand.
Articulation impairment
Phonological disorder
A speech disorder that involves the automatic repetition of vocalizations made by another person.
A speech disorder that involves a complete inability to speak.
A rheumatic disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs.
dermatosclerosis
cerebral thrombosis
disorder of glucose metabolism
A mononeuropathy that is characterized by a loss of movement or sensation in parts of the legs due to damage to the femoral nerve.
Femoral nerve lesions
femoral nerve dysfunction
A hair disease characterized by hair growth that is abnormal in quantity or location.
A brain stem cancer that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells, derives_from glial cells.
Brainstem Neuroglial tumor
malignant neoplasm of brain stem
malignant neoplasm of brainstem
neoplasm of adult brain stem
neoplasm of brain stem
primary brain Stem tumor
primary brain stem neoplasm
cerebellar cancer
malignant tumor of Cerebellum
A brain stem cancer characterized by mass lesion of the brainstem in childhood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells.
pediatric tumor of Brainstem
A brain stem cancer in the infratentorial region of the brain in childhood, characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells.
pediatric Infratentorial tumor
Intraparenchymal Clear cell meningioma of the Brainstem
brainstem intraparenchymal clear cell meningioma
An integumentary system disease that is located_in hair.
A meningioma that affects the posterior cranial fossa.
meningioma of the Posterior Cranial Fossa
A malignant ovarian surface epithelial-stromal neoplasm that has_material_basis_in the surface epithelium of the ovary.
A dermatitis that is characterized by a pyogenic infection causing the formation of pus.
An endometrial stromal tumor that has_material_basis_in connective tissue.
ESS
Undifferentiated endometrial sarcoma
endometrial stromal sarcoma, high grade
A uterine corpus sarcoma that has_material_basis_in the connective tissue of the uterine lining.
uterine corpus endometrial stromal tumor
uterine corpus endometrial stromal sarcoma
A muscular disease in which the muscle fibers do not function resulting in muscular weakness.
malignant tumor of Smooth Muscle
A Ewing sarcoma that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations.
extraosseous Ewing's sarcoma
extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor
extraskeletal Ewing sarcom
A sarcoma that is characterized by solid nests and fascicles of tumor cells with clear cytoplasm and prominent nucleoli. It presents as a slow growing mass that especially affects tendons and aponeuroses and it is deeply situated.
Clear cell sarcoma of soft Parts
adult soft part clear cell sarcoma
malignant melanoma of soft tissues
melanoma, malignant, of soft parts
malignant melanoma of soft parts
A sarcoma that results_in cells that are spindle-shaped. They are usually resistant to radiation therapy.
A mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components.
MMMT
malignant mixed Mullerian tumor
malignant mixed mesodermal (mullerian) tumor
mesodermal mixed tumor
mixed Mesodermal (mullerian) tumor
mullerian mixed tumor
A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults.
A lung disease that is characterized by pulmonary collapse, accompanied by hypoventilation which can affect a lobe, segment, or all of the lung, resulting in a decrease in the ventilation/perfusion ratio.
primary atelectasis of newborn
primary atelectasis, in perinatal period
A kidney cancer that is located in the kidney's connective tissue.
renal sarcoma
sarcoma of kidney
Coronary artery stenosis
A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain.
Gerstmann-Straussler-Scheinker disease
PRION DEMENTIA
An eye disease affecting the conjunctiva, which is the mucous membrane surrounding the eye and interior of the eyelids.
A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes.
Alexander's disease
An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex.
A bone remodeling disease that results_in abnormal elevated bone density or mass.
A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability.
cortical congenital hyperostosis
infantile cortical hyperostosis
An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities.
Piere-Robin syndrome
Pierre Robin Malformation
A leiomyoma that is located_in the blood vessels.
vascular leiomyoma
A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness.
Coma vigilans
A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem.
Infection by Encephalitozoon
An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members.
Infection by Microspora
Infection by Microsporea
Infection by Microsporida
A basal cell carcinoma that is located_in the penis.
basal cell carcinoma of the penis
Basal cell carcinoma of scrotum
basal cell carcinoma of the scrotum
A variant of basal cell carcinoma characterized by follicular differentiation.
skin infundibulocystic basal cell carcinoma
A basal cell carcinoma characterized by elevated, pearl shaped nodules with telengactisae on the surface and periphery.
Basal cell carcinoma, nodular
Circumscribed solid basal cell carcinoma
skin nodulo-ulcerative basal cell carcinoma
skin solid (nodular) Basal cell carcinoma
A basal cell carcinoma characterized by intermediate typology between basal cell carcinoma and squamous cell carcinoma.
Basosquamous carcinoma of skin
skin Metatypical carcinoma
skin metatypical basal cell carcinoma
A basal cell carcinoma characterized by brown or black pigmentation.
skin pigmented basal cell carcinoma
A basal cell carcinoma that is located_in the anal margin.
Basal cell carcinoma of Perianal skin
basal cell carcinoma of anal margin
An anal carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anal margin (where the canal meets the outside skin at the anus).
Perianal skin carcinoma
carcinoma of anal margin
A basal cell carcinoma that is characterized by sebaceous differentiation and located in the skin.
skin basosebaceous basal cell carcinoma
skin nasal cell carcinoma with sebaceous differentiation
Basal cell carcinoma of the External ear
basal cell carcinoma of external ear
An external ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
carcinoma of the External ear
carcinoma of external ear
A basal cell carcinoma characterized by solid tumor nodules.
skin micronodular basal cell carcinoma
A female reproductive system disease that is characterized by the occlusion of some part of the female genital tract, especially occlusion of the vagina.
Basal cell carcinoma - adamantinoid
Melanotic adamantinoma of skin
skin adamantinoid basal cell epithelioma
Fibroepithelioma of Pinkus
Fibroepithelioma of Pinkus type
Pinkus tumor
Basal cell carcinoma, morphea
Cicatricial basal-cell carcinoma
Morphea-type (Sclerosing) Basal cell carcinoma
skin clear cell basal cell carcinoma
A basal cell carcinoma that is characterized by the presence of thin strands of basaloid cells forming a reticulate pattern.
skin adenoid basal cell carcinoma
A basal cell carcinoma that is characterized by follicular differentiation.
follicular (pilar) basal cell carcinoma
A congenital heart disease that is characterized by partial or entire anomalous curved venous drainage of the right lung to the inferior vena cava, association with variable right lung and pulmonary artery hypoplasia, dextraposition of the heart and an anomalous systemic blood supply to the ipsilateral lung.
pulmonary venolobar syndrome
total anomalous pulmonary venous return
A basal cell carinoma that is characterized by the formation of thin, small clusters in an infiltrative growth pattern.
skin infiltrating basal cell carcinoma
Multifocal superficial basal cell carcinoma
Superficial multicentric basal-cell carcinoma
multicentric basal cell carcinoma
A vulva carcinoma that has_material_basis_in basal cells.
Basal cell carcinoma of Vulva
basal cell carcinoma of the vulva
A nodular basal cell carcinoma that is characterized by a homogenous blue/black area.
skin cystic basal cell carcinoma
skin sarcomatoid basal cell carcinoma
skin signet ring cell basal cell carcinoma
A benign giant cell tumor that results_in the presence of multinucleated giant cells.
Giant cell neoplasm of bone
Giant cell tumor of bone
Giant cell tumour of bone
bone giant cell tumour
giant cell myeloma
osteoclastoma
A peripheral nervous system disease that is characterized by the pinching of a nerve root in the spine and has symptoms of pain, weakness, numbness and tingling.
A radiculopathy that is present in more than one nerve.
A peripheral nervous system disease that is characterized by the co-occurance of polyneuropahty and polyradicuopathy and is located in both the spinal nerve roots and the peripheral nerves.
An acquired epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, and has_material_basis_in the development of autoantibodies to type VII collagen.
acquired epidermolysis bullosa
A choriocarcicoma that develops in the absence of a preceding gestational event.
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted by contaminated fomites, or transmitted by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding.
Ebola virus disease
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Marburgvirus, which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding.
Marburg disease
Marburg virus disease
A non-Langerhans-cell histiocytosis that is characterized by the proliferation in the tissues of lipid-laden macrophages and the presence of multinucleated giant cells. It results in sclerosis of the long bones and failure of the affected organs.
A histiocytosis that is characterized by the accumulation of histiocytes that do not meet the phenotypic criteria for the diagnosis of Langerhans cells.
A mouth disease that is characterized by long-lasting burning sensations of the mouth.
Orodynia
Stomatopyrosis
A female reproductive system disease that is characterized by epithelium-lined fluid-filled cysts in the adnexa adjacent to the fallopian tube and ovary.
Cyst, fimbrial
Embryonic fimbrial cyst
splenic manifestation of prolymphocytic leukemia
A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring.
favus
A dermatophytosis that results_in contagious fungal infection located_in scalp, located_in hair of head, located_in eyebrow or located_in eyelash, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching of the scalp, has_symptom pus filled lesions on the scalp, and has_symptom patches of hair loss, sometimes with a 'black dot' pattern.
Scalp ringworm
Trichophyton rubrum tinea capitis
dermatophytosis of scalp or beard
tinea capitis due to Trichophyton rubrum
Dermatophytosis of scalp
Protocoproporphyria
Protoporphyrinogen oxidase deficiency
Lymph cyst
malignant neoplasm of ciliary body
malignant tumor of ciliary body
malignant tumor of the Ciliary body
neoplasm of ciliary body
tumor of the Ciliary body
An iris disease that is located_in the ciliary body.
epithelioid melanoma
A female reproductive organ cancer that is located_in the cervix.
cervical neoplasm
cervix cancer
cervix uteri cancer
neoplasm of uterine cervix
tumor of the Cervix Uteri
uterine cervical neoplasm
A breast cancer that arises_from melanocytes.
breast melanoma
malignant melanoma of breast
A steroid inherited metabolic disorder characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16.
11-beta-hydroxysteroid dehydrogenase deficiency type 2
Ulick syndrome
cortisol 11-beta-ketoreductase deficiency
syndrome of apparent mineralocorticoid excess
apparent mineralocorticoid excess syndrome
An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath.
A hypersensitivity reaction type IV disease that is characterized by chronic urticarial rash and monoclonal IgM gammopathy, has_symptom rash, intermittent fever, arthralgia, and lymphadenopathy.
Cerebral embolism with cerebral infarction
cerebral embolism
A lung disease that is characterized by inhalation of nitrogen oxides from exposure to silage gas in recently filled silos resulting in sudden death, pulmonary edema, and/or bronchiolitis obliterans.
Silo-fillers' disease
silo filler disease
A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual.
milk allergic reaction
A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms.
Allergy to eggs
A legume allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms.
allergy to peanuts
peanut allergic reaction
A food allergy that develops_from exposure to and particularly consumption of nuts, and has_symptom asthma, skin rashes, throat and eye irritation, and anaphylaxis.
allergy to nuts
nut allergic reaction
An autoimmune disease affecting the nervous system.
autoimmune nervous system disorder
autoimmune disease of the nervous system
An orbit rhabdomyosarcoma that is characterized by ill-defined aggregates of poorly differentiated malignant cells that are loosely arranged and separated into irregular ovoid spaces by thin fibrovascular septa in an alveolar pattern which is absent in the solid form.
Alveolar Rhabdomyosarcoma of the orbit
A squamous cell carcinoma that has papillae, which are characterized either by narrow fibrovascular cores that superficially resemble papillary carcinoma of the urinary tract or by broad cores that contain edematous fibrous stroma with prominent capillaries and stromal inflammation.
papillary epidermoid carcinoma
Lipoleiomyoma
osseous peripheral Neuroepithelioma
peripheral Neuroectodermal tumor of soft tissues
A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction.
Reticulohistiocytoma
solitary reticulohistiocytoma
Acropustulosis
Palmoplantar Pustulosis
Pustular psoriasis of the palms and/or soles
A neuropathy that affect the nerves that control the voluntary muscles.
Occupational allergic contact dermatitis
Occupational eczema
An irritant dermatitis that is caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight.
Photosensitisation reaction
Photosensitive Dermatitis
Photosensitiveness
A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus, which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice.
A cervical cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes.
Fibroxanthoma
benign fibrous histiocytoma
Pleomorphic fibroma
Sclerosing angioma
Sclerosing angioma of skin
benign Cutaneous fibrous Histiocytoma
dermatofibroma
fibrohistiocytic tumor
fibrous histiocytoma of skin
fibrous xanthoma of skin
A sphingolipidosis characterized by dysfunctional metabolism of sphingolipids.
Sea-blue histiocyte syndrome
A non-Langerhans-cell histiocytosis is characterized as a benign skin lump or bump caused by a collection of cells called histiocytes. These may be red, orange or tan at first, but over time may become more yellow in color. These bumps usually appear on the head, neck and trunk.
Multiple eruptive juvenile xanthogranuloma
Naevoxanthoendothelioma
Xanthoma neviforme
A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability.
Somatostatin cell neoplasm
Somatostatin cell tumour
pancreatic Somatostatin cell tumor
pancreatic delta cell somatostatin producing neoplasm
pancreatic Delta cell tumor
small Intestine neuroendocrine tumor
meningioma of the Cavernous sinus
meningioma of the Anterior Fossa
meningioma of the Skull Base
germinoma of CNS
A central nervous system cancer that is characterized by tumors near the pineal gland, the pituitary gland and the tissue just above it, develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, has_material_basis_in abnormally proliferating cells derives_from germ cells.
central nervous system germ cell tumour
germ cell tumor of the CNS
germ cell tumour of the CNS
A germinoma that has_material_basis_in cells that make sperm and eggs.
Seminoma, Pure
A germ cell cancer that derives_from cells that give rise to egg cells.
An alveolar soft part sarcoma and cervical soft tissue tumor and malignant neoplasm of cervix uteri that is located_in the cervix.
A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.
Macular degeneration of retina
macular edema
macular oedema
macular retinal oedema
Aldosteronism with hyperplasia of the adrenal cortex
Bartter's syndrome
A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.
RCC
adenocarcinoma of kidney
hypernephroma
A kidney cancer that derives_from the lining of the proximal convoluted tubule (the very small tubes in the kidney that filter the blood and remove waste products).
carcinoma of kidney
kidney carcinoma
pediatric renal cell carcinoma
An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands.
Cushing syndrome
Cushing's syndrome
hyperaldosteronism
cystadenocarcinoma of kidney
renal cystadenocarcinoma
multilocular clear cell renal cell carcinoma
A renal cell carcinoma that begins in distal collecting ducts of the kidney with a tubulopapillary morphology and intracytoplasmic mucicarminophilic material.
carcinoma of renal Collecting duct
renal Medullary carcinoma
renal carcinoma, collecting duct type
A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors.
Chromophil carcinoma of kidney
papillary kidney carcinoma
sporadic papillary renal cell carcinoma
A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.
Clear cell carcinoma of kidney
clear cell kidney carcinoma
conventional (Clear cell) renal cell carcinoma
conventional renal cell carcinoma
renal clear cell carcinoma
Clear-cell metastatic renal cell carcinoma
MESH:C538445 added from NeuroDevNet [WAK].
An adenocarcinoma that derives_from epithelial cells which have clear cytoplasm.
Mesonephroid Clear cell carcinoma
Mesonephroma, malignant
Water-clear cell adenocarcinoma
Water-clear cell carcinoma
Wolffian duct neoplasm
malignant Mesonephroma
mesonephroma
inborn renal tubular transport disorder
A renal cell carcinoma that has_material_basis_in chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells.
Chromophobe carcinoma of kidney
chromophobe adenocarcinoma
kidney chromophobe
renal cell carcinoma, chromophobe cell
mucinous tubular and spindle renal cell carcinoma
renal cell carcinoma, spindle cell
An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone.
Achondroplastic physique
Chondrodystrophia
osteosclerosis congenita
A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.
Non-seasonal allergic rhinitis
Perenial allergic rhinitis
atopic rhinitis
hay fever
pollenosis
seasonal allergic rhinitis
A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.
Mesothelioma, biphasic, malignant
mixed Mesothelioma
malignant fibrous mesothelioma
spindled mesothelioma
A peritoneum cancer that is characterized by the presence of prominent hemangiopericytoma-like vessels and that arises from the peritoneum.
Pleural and peritoneal Solitary fibrous tumor
Pleural and peritoneal Solitary fibrous tumour
malignant peritoneal solitary fibrous tumour
malignant peritoneal solitary fibrous tumor
A syndrome affecting returning military veterans and civilian workers of the Gulf War.
Gulf war syndrome
An influenza that results in infection located in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress.
avian flu
bird flu
A muscular dystrophy that is characterized by progressive muscle wasting and weakness.
hypopotassemia
potassium deficiency disorder
A syndrome that is characterized by malformations of the face, oral cavity, and digits.
oral-facial-digital syndrome
A central nervous system sarcoma that is located_in the inner lining of blood vessels.
hemangiosarcoma of the CNS
paediatric angiosarcoma
paediatric hemangiosarcoma
pediatric hemangiosarcoma
An angiosarcoma that is located_in the aorta.
Aortic hemangiosarcoma
An angiosarcoma and sarcoma of breast and vascular neoplasm of breast that is located_in the cells that line the blood vessels within the breast or underarm area.
hemangiosarcoma of the breast
An angiosarcoma and gallbladder sarcoma that is located_in the gallbladder.
hemangiosarcoma of gallbladder
A thyroid sarcoma and angiosarcoma that results_in a high prevalence of iodine-deficient goiter.
hemangiosarcoma of the Thyroid
A thyroid gland cancer that is located_in the supporting cells of the thyroid.
sarcoma of the Thyroid gland
An angiosarcoma and hemangioma of skin and malignant skin vascular tumor and sarcoma of skin that is located_in the skin and results_in an enlarged bruise (a blue-black nodule) and an unhealed ulceration.
angiosarcoma of skin
hemangiosarcoma of the skin
A gastrointestinal system benign neoplasm that is a located_in the salivary glands.
mixed tumor of the Salivary gland
A cervix endometrical stromal tumor that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm.
endometrial stromal sarcoma of the cervix
A cervical cancer that derives_from the fibrous connective tissue of the endometrium.
angiosarcoma of the Superior Vena Cava
An angiosarcoma and sarcoma of prostate that is located_in the prostate.
Prostatic hemangiosarcoma
An angiosarcoma and sarcoma of the mediastinum that is located_in the mediastinum.
hemangiosarcoma of mediastinum
An ovary sarcoma that is a malignant vascular tumor that derives_from blood vessels.
hemangiosarcoma of Ovary
A carcinoma that is characterized by the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation.
MEC
A syndrome that affects growth, cranial development, hair growth and dental development.
Francois dyscephalic syndrome
Hallerman - Streiff syndrome
Hallermann's syndrome
A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis_in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles.
A writing disorder that involves a deficiency in the ability to write where the writing is distorted or incorrect, spelling difficulty, poor handwriting or trouble putting thoughts on paper.
An agnosia that involves a severe problem with recalling words or names.
Anomic aphasia
anomia
Pituitary gland Basophilic adenoma
An amnestic disorder that involves a loss of one's pre-existing memories to conscious recollection.
An adult sarcoma of soft tissue and mesenchymal chondrosarcoma that is located_in the cartilage.
mesenchymal extraosseous chondrosarcoma
extraskeletal mesenchymal chondrosarcoma
A chondrosarcoma that is located_in exclusively soft tissue and that is characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern.
anal neoplasm
anal tumors
neoplasm of anus
A carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm.
large cell carcinoma of the Thymus
Thymoma, type C
An ovarian carcinoma that is characterized by large pleiomorphic cells with large round or oval nuclei, presence of mitoses and staining for neuroendocrine (NE) markers and has_material_basis_in neuroendocrine cells.
Non-small-cell type neuroendocrine carcinoma of Ovary
ovarian large-cell neuroendocrine carcinoma
large cell carcinoma of lung
large cell lung carcinoma
A mouth disease that is characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer.
Leukedema of mouth
Ludwig angina
cellulitis of floor of mouth
A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation.
Ascariasis - roundworm
Ascaris lumbricoides infection
An endometritis that is present for weeks or more and does not have an identifiable causative organism.
An endometritis that is characterized by the presence of granulomas in the uterus.
Endocarditis lenta
SBE - Subacute bacterial endocarditis
Subacute endocarditis, lenta
Choroid meningioma
meningioma of the Choroid Plexus
meningioma, benign
Lymphoplasmocyte-rich meningioma
Bullous ichthyosiform erythroderma
Epidermolytic palmoplantar hyperkeratosis
A biliary tract cancer that is located_in the bile duct.
Ca extrahepatic bile ducts
bile duct tumor
malignant neoplasm of the extrahepatic bile duct
A hepatobiliary system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct.
malignant tumour of biliary tract
neoplasm of common bile duct
Myomatous neoplasm
Myomatous tumor
muscle neoplasm
muscle tissue neoplasm
neoplasm of muscle
A gastrointestinal system benign neoplasm that is located_in the intestine.
intestinal tumors
intestine growth
neoplasm of intestinal tract
Apical granuloma
A jaw cancer that effects the maxilla or upper jaw.
maxillary neoplasm
upper jaw bone cancer
A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies.
Holoprosencephaly sequence
A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet.
DYSCHONDROPLASIA
ENCHONDROMATOSIS, MULTIPLE
Enchondromatosis with haemangiomata
Kast's syndrome
OSTEOCHONDROMATOSIS
Classic apraxia
Ideomotor dyspraxia
Limb-kinetic apraxia
Transcortical apraxia
transitional papilloma, inverted
Inverting papilloma of the nasal cavity
submandibular lymphadenitis
cervical lymphadenitis
Suppurative lymphadenopathy
An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin.
Retinal tumor
malignant Retinal neoplasm
malignant neoplasm of retina
malignant tumor of retina
neoplasm of retina
A retinoblastoma that refers to bilateral retinoblastoma associated with an intracranial primitive neuroectodermal tumor located_in the pineal or suprasellar region.
Hereditary Retinoblastoma
A retinoblastoma that develops in both eyes.
A retinoblastoma that effects only one eye.
A retinoblastoma that is located_in the eye and has not spread to other parts of the body.
A retinoblastoma that has spread from the soft tissues surrounding the eye or to the optic nerve beyond the margin of resection to other parts of the body.
ISM
A syndrome that is an adverse physical reaction to low levels of many common chemicals.
20th century disease
chemical AIDS
environmental illness
idiopathic environmental illness
total allergy syndrome
A brain disease that is characterized by Dejerine-Roussy syndrome that develops from thalamic injury.
A disorder of sexual developement that is characterized by the inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup.
Androgen resistance syndrome
Androgen-Insensitivity Syndrome
Feminisation - testicular
Goldberg - Maxwell syndrome
Goldberg-Maxwell syndrome
testicular Feminization syndrome
testicular feminization
UREMIA OF renal ORIGIN
A corneal disease that is characterized by inflammation of the cornea.
A mucoepidermoid carcinoma located_in the thymus.
Mucoepidermoid carcinoma of the Thymus
A breast metaplastic carcinoma that is characterized by the presence of four cell types (basaloid, intermediate, epidermoid, and mucinous) in varying proportions.
Mucoepidermoid carcinoma of the breast
mucoepidermoid carcinoma of breast
Intramuscular Angioma
A breast carcinoma that represents a mixed group of malignant neoplasms characterized by the histologic presence of two or more cellular types.
Metaplastic carcinoma of the breast
metaplastic carcinoma of breast
A mucoepidermoid carcinoma located_in a bile duct.
Mucoepidermoid carcinoma of the bile duct
A cholangiocarcinoma that arises from the extrahepatic bile ducts.
carcinoma of extrahepatic bile duct
extrahepatic bile duct cancer
Mucoepidermoid carcinoma of skin
Mucoepidermoid skin carcinoma
A mucoepidermoid carcinoma located_in the lacrimal gland.
Mucoepidermoid carcinoma of the lacrimal gland
Mucoepidermoid carcinoma of the esophagus
A thyroid gland carcinoma that is composed of groups of squamoid and mucous cells, surrounded by fibrous tissue.
mucoepidermoid thyroid carcinoma
A mucoepidermoid carcinoma located_in the larynx.
Mucoepidermoid carcinoma of Larynx
childhood mediastinal neurogenic tumour
paediatric neurogenic tumour of mediastinum
pediatric neurogenic tumor of mediastinum
A mediastinal cancer that has_material_basis_in neural cells.
neurogenic tumor of mediastinum
malignant mediastinal neurogenic neoplasm
A globe disease that is characterized by inflammation of the inside of the eye.
neural Plexus tumors
soft tissue Perineurioma
tumor of nerve Root
Epicardial tumor
malignant Epicardial tumor
malignant neoplasm of epicardium
Mongolian Macula
A brain cancer that is located_in the infratentorial region.
brain neoplasm, Infratentorial
malignant Infratentorial tumors
tumor of the Cervicomedullary Junction
meningioma of the Foramen Magnum
Angioma of the skin
Angiomatous naevus of skin
neuroendocrine tumor of the stomach
germ cell tumor of the stomach
germ cell tumour of the stomach
malignant gastric germ cell tumour
A germ cell cancer that derives_from germ cells that are found in areas of the body other than the ovary or testicle. The tumors originate in the sperm forming cells in the testicles or egg producing cells in the ovary.
extragonadal germ cell malignant tumor
neoplasm of Extragonadal germ cell
tumor of extragonadal germ cell
A malignant giant cell tumor that is composed_of multinucleated giant cells.
Giant cell sarcoma of the bone
Giant cell tumor of bone, malignant
hemangioma of the Subglottis
A brain disease that is characterized by low pressure inside the skull, and thus in the brain tissue and cerebrospinal fluid; may occur as a result of an occult or iatrogenically caused leak of CSF into another body cavity; may result in the downward displacement of the cerebellar tonsils through the foramen magnum or Chiari malformation; has_symptom orthostatic headache; other symptoms are related to compression of cranial nerves due to brain sagging.
A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma.
intracranial swelling
wet brain
A rhinitis which involves a hypersensitive reaction to various potentially irritating stimuli such as changes in weather, temperature, or barometric pressure, chemical irritants such as smoke, ozone, pollution, perfumes, and aerosol sprays, psychological stress and emotional shocks, medications, alcohol, and spicy food.
A rhinitis which involves inflammation of the nose characterised by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine imbalance, nutritional deficiency, bacterial infection and autoimmune issues.
Ozaena
Rhinitis, atrophic
dry rhinitis
ozena
rhinitis sicca
A disease of mental health that involves physical symptoms suggesting a physical illness where the biological or medical cause of the symptoms is indeterminate.
physiological malfunction arising from mental factor
psychophysiologic disorder
psychosomatic disorder
A testicular cancer that has_material_basis_in the surface epithelium of the testis and is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma.
Angiolymphoid hyperplasia with eosinophilia
epithelioid haemangioma
epithelioid hemangioma
A mixed germ cell cancer that is located_in the testis.
mixed germ cell tumor of testis
mixed germ cell tumour of testis
mixed testicular germ cell tumour
A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium.
meningioma of the middle Cranial Fossa
Shy-Drager syndrome
testicular Leydig cell neoplasm
A sex cord-gonadal stromal tumor that is located_in the testis.
Sex Cord-Stromal tumor of testis
A breast benign neoplasm that is characterized by a collection of excess blood vessels.
Angioma of the breast
hemangioma of breast
An impotence that is characerized by an inability to achieve and maintain an erection due to defects in the arterial blood flow to the penis or a defect in venous occlusive function allowing blood drainage from the erectile tissue.
A lung cancer that has_material_basis_in tissues of the lung and has_material_basis_in pleural tissues. It is most commonly effects children.
Blastoma of lung
A carcinosarcoma and embryonal cancer that is located_in embryonic tissue and results_in a mass of rapidly growing cells.
Blastoma
epithelial predominant pulmonary blastoma
A pulmonary blastoma that derives_from the lung or pleural cavity.
A kidney cancer that is characterized by the presence of fibroblastic cells.
A Goodpasture syndrome that is characterized by damage to only kidney capillaries.
anti-GBM glomerulonephritis
anti-basement membrane glomerulonephritis
mesangial proliferative glomerulonephritis
Immune Complex Glomerulonephritis
Cerebellopontine Angle PNET
cerebellopontine angle primitive neuroectodermal tumor
intracranial PNET
intracranial primitive neuroectodermal tumor
Angiokeratoma of skin
Cutaneous Angiokeratoma
skin angiokeratoma
Diktyoma, malignant
Medulloepithelioma, central nervous system
Supratentorial PNET
supratentorial primitive neuroectodermal tumor
A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex.
Tay-Sachs disease AB variant
Tay-Sachs disease, variant AB
systemic mastocytosis with associated clonal haematological non-mast cell lineage disease
systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease
ASM
Lymphadenopathic mastocytosis with eosinophilia
A reproductive system disease that affects male reproductive organs.
A brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity.
A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma.
Cholestanol storage disease
adult brain stem Gliosarcoma
A brain stem cancer that is characterized by mass lesion of the brainstem in adulthood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells and derives_from glial cells.
adult Brainstem Neuroglial tumor
An autonomic nervous system benign neoplasm that is characterized by the presence of mature ganglion cells and a mature Schwannian stroma and arises from the sympathetic trunk in the mediastinum.
An adenosquamous carcinoma located_in lung that derives_from lung tissue composed of at least 10% by volume each of squamous cell carcinoma (SqCC) and adenocarcinoma (AdC) cells.
Cavernoma
Cavernous haemangioma
A squamous cell carcinoma that contains squamous cells and gland-like cells.
Adenosquamous cell carcinoma
mixed adenocarcinoma and squamous carcinoma
A syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones.
Disappearing bone disease
Gorham disease
essential osteolysis
massive osteolysis
phantom bone disease
Gorham-Stout Syndrome
A carcinoma that derives_from myoepithelial cells.
Sebaceous carcinoma
adenocarcinoma of the Sebaceous gland
A skin cancer that arises from the sebaceous glands.
malignant Sebaceous tumor
malignant neoplasm of sebaceous gland
Subependymal astrocytoma
WHO grade I Ependymal tumor
mixed subependymoma-ependymoma
WHO grade II Ependymal tumor
epithelial ependymoma
A pilocytic astrocytoma that is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies.
Intradural Extramedullary Astrocytic tumor of the Cauda Equina
cauda equina intradural extramedullary astrocytoma
tumor of the Cauda Equina
astrocytoma of Cerebellum
A childhood low-grade glioma that is characterized by cells that look like fibers when viewed under a microscope and is located_in the brain.
Piloid astrocytoma
grade I Astrocytic tumor
A low grade glioma that is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies.
Pleomorphic Xantho-astrocytoma
Cerebellar Pilocytic astrocytoma
astrocytoma of Diencephalon
A low grade glioma that is characterized by diffuse infiltration of neighboring central nervous system structures.
Diffuse astrocytoma, low grade
WHO grade II astrocytoma
Pineal Astrocytic tumor
A brain stem glioma that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells derives_from astrocytes.
Brainstem astrocytoma
Spinal astrocytoma
astrocytoma of spinal cord
A salivary gland carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes.
Cylindroma
A cervix carcinoma that is characterized by its resemblance to adenoid cystic carcinoma of the salivary glands. It shows pseudoglandular, cribriform-like and tubular patterns containing basement membrane-like material. Cytologically, the nuclei are angulated and hyperchromatic, without prominent nucleoli.
adenoid cystic carcinoma of the Cervix Uteri
adenoid cystic carcinoma of the prostate
adenoid cystic carcinoma of prostate
adenoid cystic carcinoma of Larynx
adenoid cystic carcinoma of lacrimal gland
adenoid cystic carcinoma of the skin
adenoid cystic eccrine carcinoma
adenoid cystic eccrine carcinoma of skin
pulmonary adenoid cystic carcinoma
adenoid cystic carcinoma of lung
Tracheal adenoid cystic carcinoma
A tracheal cancer that effects the airway that leads from the larynx to the bronchi.
Pancoast's tumor
carcinoma of the trachea
A breast carcinoma that is characterized by the presence of a dual cell population of luminal and basaloid cells arranged in specific growth patterns.
Mammary Adenocystic carcinoma
adenoid cystic carcinoma of breast
An esophageal carcinoma that derives_from epithelial cells of the salivary gland.
adenoid cystic carcinoma, esophagus
A Bartholin's gland carcinoma that is characterized by a distinctive pattern in which abnormal nests and columns of cells of bland appearance are arranged concentrically around glandlike spaces filled with eosinophilic periodic acid-Schiff-positive diastase-resistant material.
Bartholin gland adenoid cystic carcinoma
Bartholin's gland adenoid cystic carcinoma
A kidney sarcoma that has_material_basis_in clear cells that are characterized as cells that look clear when viewed under a microscope.
Clear cell sarcoma of kidney
childhood kidney clear cell sarcoma
renal Clear cell sarcoma
A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus, which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue.
Tick fever, American mountain
An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough.
Tuberculous adenitis
Tuberculous lymphadenopathy
king's evil
scrofula
A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years.
Janz syndrome
A middle ear carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of the middle ear
adenocarcinoma of middle ear
A middle ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
carcinoma of the middle ear
carcinoma of middle ear
An ovary adenocarcinoma that arises from the rete ovarii.
A female reporoductive organ benign neoplasm that is located_in the rete ovarii.
A bile duct carcinoma that derives_from epithelial cells of glandular origin.
A bile duct cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
pulmonary hemangioma
primary peritoneal serous adenocarcinoma
An appendix cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Ca appendix
carcinoma of appendix
A carcinoma that derives_from epithelial cells, with polygonal accumulation of secondary lysosomes in the cytoplasm.
granular cell adenocarcinoma
A pancreas cancer that derives_from epithelial cells located_in the exocrine pancreas.
Exocrine pancreas carcinoma
carcinoma of pancreas
Pancreatic carcinoma, familial
exocrine cancer
A small intestine carcinoma that derives_from epithelial cells of glandular origin.
small intestinal adenocarcinoma
adenocarcinoma of small Intestine
A small intestine cancer that develops from epithelial cells and is located_in the small intestine.
small intestinal carcinoma
cancer of the small bowel
small bowel cancer
A anus cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anus.
Ca anus
carcinoma of anus
An urethra cancer that derives_from epithelial cells of glandular origin.
adenocarcinoma of the urethra
An esophageal carcinoma that derives_from epithelial cells of glandular origin.
Oesophageal adenocarcinoma
Basophil adenocarcinoma
Basophil carcinoma
basophilic carcinoma
carcinoma of the Pituitary gland
An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, with villous architecture.
A renal pelvis carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of the kidney Pelvis
adenocarcinoma of renal pelvis
carcinoma of kidney Pelvis
malignant neoplasm of renal pelvis
malignant renal Pelvis neoplasm
malignant tumor of renal pelvis
renal pelvis cancer
An eccrine sweat gland cancer that derives_from epithelial cells of glandular origin.
malignant Eccrine tumor
malignant eccrine skin neoplasm
A breast adenocarcinoma that has_material_basis_in cells with abundant granular or clear vacuolated cytoplasm.
Juvenile Secretory carcinoma of breast
juvenile breast carcinoma
juvenile carcinoma of the breast
A thymic carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of the Thymus
A lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension.
Bronchioalveolar lung carcinoma
Bronchioloalveolar carcinoma
Minimally Invasive Lung Adenocarcinoma
An intrahepatic cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts.
Klatskin tumor
Klatskin tumour
Klatskin's tumour
Perihilar extrahepatic bile duct carcinoma
hilar cholangiocarcinoma
hilar cholangiocellular carcinoma
A cholangiocarcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree.
Intrahepatic bile duct carcinoma
peripheral Cholangiocarcinoma
An adenocarcinoma that derives_from epithelial cells originating in glandular tissue. The tumor has branched angular tubules embedded in a loose fibrous stroma.
tubular carcinoma
A nasal cavity carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of the nasal cavity
adenocarcinoma of nasal cavity
A nasal cavity cancer that has_material_basis_in epithelial cells.
cancer of nasal cavity
carcinoma of nasal cavity
An ampulla of Vater cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
ampulla of vater cancer
ampullary carcinoma
carcinoma of ampulla of vater
An apocrine sweat gland cancer that derives_from epithelial cells of glandular origin.
apocrine adenocarcinoma
apocrine gland carcinoma
carcinoma of the Apocrine gland
malignant Apocrine tumor
An ureter carcinoma that derives_from epithelial cells of glandular origin.
ureteral adenocarcinoma
adenocarcinoma of ureter
An ureter cancer that is located_in the ureter.
ureteral carcinoma
An in situ carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of Cardioesophageal junction
adenocarcinoma of gastroesophageal junction
gastroesophageal junction adenocarcinoma
A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.
adult primary Cholangiocarcinoma
adult primary cholangiocellular carcinoma
cholangiosarcoma
A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
cancer of the gallbladder
carcinoma gallbladder
carcinoma of gallbladder
Sclerosing haemangioma
A poliomyelitis that results in atrophy located in muscle, many years after the initial infection, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3. It is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. The infection has symptom muscle weakness, has symptom muscle pain, has symptom sleep apnea, and has symptom breathing problems.
Postpolio syndrome
A viral infectious disease that results in destruction located in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom fever, has symptom sore throat, has symptom headache, has symptom vomiting, has symptom fatigue, has symptom neck stiffness, has symptom muscle spasms, and has symptom acute flaccid paralysis.
A central nervous system cancer that is characterized by melanocytic neoplasm that develops from melanocytes, has_material_basis_in abnormally proliferating cells derives_from neural crest cells.
melanocytic tumor of the CNS
central nervous system primary melanocytic lesion
primary melanocytic Lesions of the CNS
primary melanocytic lesion of meninges
central nervous system melanocytic neoplasm
Meningeal hemangiopericytoma
hemangiopericytoma of meninges
An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen.
Dystrophic epidermolysis bullosa
SCH
A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow.
bone Marrow tumor
bone marrow neoplasm
malignant bone Marrow tumor
malignant neoplasm of bone marrow
A hematopoietic system disease that is located_in the bone marrow.
bone marrow disorder
An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction.
tuberculous pericarditis
An anxiety disorder that involves discress but neither delusions nor hallucinations.
Neurotic depression reactive type
Neurotic depressive state
Psychoneurosis
depressive neurosis
neurosis
neurotic depression
reactive depression
Nelson's syndrome
A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia.
Aphasia-angular gyrus syndrome
An agnosia that results in the loss of the ability to consciously recognize familiar faces.
A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue.
Agnogenic myeloid metaplasia
Aleukemic myelosis
Megakaryocytic myelosclerosis
bone Marrow Fibrosis
myelosclerosis
primary myelofibrosis
A myeloid neoplasm that results_in the overproduction of white blood cells.
Myeloproliferative/Myelodysplastic syndromes
myelodysplastic myeloproliferative cancer
myelodysplastic myeloproliferative disease
myelodysplastic/myeloproliferative neoplasm
A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinobacillus ureae, which is a commensal of the human respiratory tract. The pathogen causes meningitis, endocarditis, bacteremia, atrophic rhinitis, bronchitis, pneumonia, conjunctivitis, peritonitis, and otitis media.
Lymphatic edema
Lymphoedema
extraosseous Ewing's tumor
extraosseous Ewing's tumour
extraosseous Ewings sarcoma-primitive neuroepithelial tumour
extraosseous Ewings sarcoma-primitive neuroepithelial tumor
A poliomyelitis that results in destruction located in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom fever, has symptom sore throat, has symptom headache, has symptom vomiting, has symptom fatigue, has symptom neck stiffness, and has symptom muscle spasms.
acute nonparalytic poliomyelitis
non-paralytic aseptic meningitis
A pancreas disease that is characterized by inflammation of the pancreas.
A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms.
benign essential tremor
essential hereditary tremor
shaky hand syndrome
Astrocytic tumor of optic nerve
optic tract astrocytoma
glioma of the optic nerve
An adenomyoma that is a biphasic polypoid lesion consisting of a myofibroblastic stromal component and an endometrial intraepithelial neoplasm.
A uterine benign neoplasm that has_material_basis_in gland and muscle components.
adenomyoma of Corpus Uteri
uterine corpus adenomyoma
A cervical benign neoplasm that has_material_basis_in gland and muscle components.
An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone.
Diaphyseal dysplasia
Engelman's disease
progressive diaphyseal dysplasia
A syndrome that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose.
Langer-Giedion syndrome
Trichorhinophalangeal dysplasia type II
trichorhinophalangeal syndrome type 2
An endocrine system disease that is located_in the thyroid.
A hypogonadism that is characterized by the lack of mature male germ cells and testicular hormones.
hemangioma of CNS
A hepatocellular carcinoma characterized microscopically by laminated fibrous layers interspersed between the tumour cells. The polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers.
Fibrolamellar hepatocellular carcinoma
Hepatocellular carcinoma, fibrolamellar
Oncocytic Hepatocellular tumor
Clear cell carcinoma of the Liver cells
Hepatocellular carcinoma, clear cell type
A central nervous system cancer that is characterized by mesenchymal tumors within the CNS that develops from meninges, has_material_basis_in abnormally proliferating cells derives_from mesoderm.
Non-meningothelial mesenchymal tumor
Non-meningothelial mesenchymal tumour
central nervous system mesenchymal non-meningothelial tumour
central nervous system mesenchymal non-meningothelial tumor
aflatoxins-related hepatocellular carcinoma
Sclerosing Hepatocellular carcinoma
pineal parenchymal tumour of intermediate differentiation
pineal parenchymal tumor of intermediate differentiation
adult Pineal Parenchymal neoplasm
An endocrine gland located_in the pineal gland located in the brain.
Pineocytic tumor
malignant Pineal Region tumor
malignant tumor of pineal gland
neoplasm of pineal gland
neoplasm of the Pineal Region
pineal body neoplasm
tumor of the pineal region
benign granular cell tumor
granular cell tumor of esophagus
granular cell tumour of oesophagus
malignant granular cell esophageal tumour
malignant granular cell esophageal tumor
A gastrointestinal system cancer that is located_in the esophagus.
Ca lower third oesophagus
Ca middle third oesophagus
esophagus cancer
malignant neoplasm of distal third of esophagus
malignant neoplasm of lower third of oesophagus
malignant neoplasm of middle third of oesophagus
malignant neoplasm of proximal third of esophagus
malignant neoplasm of upper third esophagus
malignant tumor of Distal Third of esophagus
malignant tumor of Proximal Third of esophagus
malignant tumor of abdominal esophagus
malignant tumor of the middle Third of the esophagus
granular cell tumor, malignant
malignant granular cell neoplasm
malignant granular cell tumor
A vulvar benign neoplasm of neural origin that is characterized by round to polyhedral cells with indistinct margins and granular cytoplasm due to the accumulation of lysosomes. They occur in ribbons or clumps separated by hyalinised stroma and collaged fibers with uniform, small and dark staining nuclei.
granular cell tumor of Heart
granular cell tumor of mediastinum
A posterior pituitary gland neoplasm that arises from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes.
granular cell tumor of the sellar region
A pituitary gland benign neoplasm that arises from the neurohypophysis.
Posterior Pituitary tumor
Ehrlich tumour carcinoma
Ehrlich's tumor
Ehrlich's tumour
A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain.
Nightcliff gardener's disease
Pseudoglanders
Whitmore's disease
acute and fulminating melioidosis
subacute and chronic melioidosis
tumor of adult Cerebellum
Papillary meningioma of Cerebellum
Papillary meningioma
meningioma, rhabdoid
pediatric tumor of Cerebellum
A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences.
PCP abuse
Basisquamous cell carcinoma
Metatypical carcinoma
basosquamous cell carcinoma
A disease of mental health that is an abnormal and excessive emotional and behavioral reaction to a life stress that develops within 3 months of a life stress, and which is stronger or greater than what would be expected for the type of event that occurred.
adjustment disease
adjustment reaction
A high grade glioma that is derived from ependymal cells, a type of glial cell, located_in ventricle lining within the central part of the brain.
Ependymal neoplasm
ependymal tumors
mixed Neuroglial tumor
mixed gliomas
SEGA
A cell type benign neoplasm that has_material_basis_in glial-type cells.
CNS ganglioglioma
adult ganglioglioma
childhood ganglioglioma
Cirrhosis
cirrhosis of liver
A bone cancer and neoplasm of chest wall and sternal disorder that is located_in the sternum.
An organ system cancer located_in the thoracic cavity that develops in the different types of cells within the lungs, as well as less common cancers of the esophagus, the trachea, or the chest wall.
Thoracic tumor
thorax cancer
thorax neoplasm
tumor of thorax
An ear cancer that is located_in the middle ear.
neoplasm of middle ear
tumor of the middle ear
malignant tumor of ear
infarction of testis
testicular infarction
A nutritional deficiency disease that is characterized by deficiency of copper, causing spastic gait and ataxia, often with anemia and neutropenia, has_symptom imbalance and jerking movements, and has_material_basis_in copper deficiency possibly due to malabsorption or excess zinc ingestion.
human swayback
A nutrition disease that is characterized by deficiency of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content.
A dermoid cyst that is located_in the ovary.
Dermoid cyst
Ovarian Dermoid Cyst
A cystic teratoma that is located_in the ovary.
An ovarian disease that is characterized by the presence of a fluid-filled sac and is located_in the ovary.
neoplasm of epididymis
A thoracic benign neoplasm that derives_from smooth muscle cells and is located_in the mediastinum.
leiomyoma of mediastinum
A fallopian tube benign neoplasm that has_material_basis_in smooth muscle cells.
A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the extrahepatic bile duct.
leiomyoma of the extrahepatic bile duct
A central nervous system benign neoplasm that derives_from smooth muscle cells.
leiomyoma of CNS
A leiomyoma that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures.
Atypical leiomyoma
Pleomorphic leiomyoma
Symplastic leiomyoma
A leiomyoma that is located_in deep soft tissue.
Cutaneous leiomyoma
leiomyoma of the skin
A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the anus.
leiomyoma of anus
A lung benign neoplasm that derives_from some smooth muscle cell.
pulmonary leiomyoma
A cardiovascular organ benign neoplasm that derives_from smooth muscle cells and that is located_in the pericardium.
leiomyoma of Pericardium
A leiomyoma that is multiple and diffuse.
A leiomyoma that is a morphological variant of leiomyoma and is characterized by increased cellularity, no atypia and no mitotic figures.
A gastrointestinal system benign neoplasm that is located_in the gallbladder and derives_from smooth muscle cells.
leiomyoma of the gallbladder
A vulvar benign neoplasm that is located_in smooth muscle cells.
An intestinal benign neoplasm that derives_from smooth muscle cells and that is located_in the large bowel.
leiomyoma of large Intestine
A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the appendix.
Appendiceal leiomyoma
A reproductive organ benign neoplasm that has_material_basis_in the dartos muscle located_in the scrotum or labia majora.
Dartoic myoma
Neurofibroma of the gallbladder
A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus, which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment.
Enzootic encephalomyelitis
Mesothelioma of Pleura
A connective tissue cancer that located_in the pleura.
Pleural tumor
neoplasm of pleura
An arteriosclerosis that is characterized by thickening of the wall of the small arteries and arterioles, caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy, and results in lumen narrowing and tissue ischemia.
An uterine corpus cancer that is located_in the muscles of the uterus or located_in other tissues that support the uterus.
sarcoma of Corpus Uteri
sarcoma of uterus
endometrial Stromal neoplasm
An ovary sarcoma that arises from endometrial stromal tissue.
A vagina sarcoma that has_material_basis_in endometrial stroma.
A vaginal cancer that has_material_basis_in endometrial stroma.
An in situ carcinoma that is located_in the endometrium.
carcinoma in situ of endometrium
endometrial carcinoma in situ
Nonanaplastic renal Wilm's tumor
Nonanaplastic renal Wilm's tumour
renal Wilms' tumour
nonanaplastic renal wilms tumor
metachronous Wilms tumor of the kidney
mixed cell type kidney Wilms' tumour
mixed cell type renal Wilms tumor
mixed cell type renal Wilms tumour
Scrotal Ca
Scrotal tumor
malignant Scrotal neoplasm
malignant tumor of scrotum
malignant tumour of scrotum
neoplasm of scrotum
scrotum cancer
Blastema Predominant renal Wilms tumor
Blastema Predominant renal Wilms tumour
blastema predominant kidney Wilms' tumour
blastema predominant kidney adenosarcoma
blastema predominant kidney Wilms' tumor
A nephroblastoma that results_in either bilateral disease or a family history of Wilms' tumour.
Hereditary Wilms tumor
Hereditary Wilms tumour
WT1
hereditary Wilms' tumour
epithelial Predominant renal Wilms tumor
epithelial Predominant renal Wilms tumour
epithelial predominant Wilms' tumour
epithelial predominant kidney adenosarcoma
A cervical carcinosarcoma is located_in the cervix with morphological features resembling Wilms tumor of the kidney.
cervical Wilms tumor
Stromal Predominant renal Wilms tumor
Stromal Predominant renal Wilms tumour
stromal predominant kidney Wilms' tumour
intermixed schwannian stroma-rich ganglioneuroblastoma
PNS Ganglioneuroblastoma
peripheral nervous system ganglioneuroblastoma
A fallopian tube benign neoplasm that derives_from mesothelium.
An artery disease that is characterized by degeneration of the cells composing the aortic wall.
aortic disorder
disorder of the aorta
Obstructive Uropathy
urinary obstruction
A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis.
fructose 1 phosphate aldolase deficiency
fructose-1,6-diphosphatase deficiency
An ovarian germ cell teratoma that has_material_basis_in a tissue type from one germ cell layer (ectoderm, mesoderm or endoderm).
Ovarian Monodermal teratoma
Struma ovarii, malignant
An ovarian benign neoplasm struma ovarii that is not cancerous and that is composed either exclusively or predominantly of thyroid tissue.
A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids.
carbohydrate-deficient glycoprotein syndrome
An autoimmune disease of peripheral nervous system that is characterized by inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers.
chronic inflammatory demyelinating polyradiculoneuropathy
peripheral demyelinating neuropathy
Encephalitis lethargica
von Economo disease
malignant Glomus neoplasm
subungual glomus tumour
Capillary Hemangioblastoma
A vasculitis that is characterized by inflammation of blood vessel walls in the brain or spine.
A leiomyosarcoma that is characterized by a prominent intristic inflammatory component.
A leiomyosarcoma that is not histologically defined as spindle cell leiomyosarcoma, epithelioid leiomyosarcoma, or myxoid leiomyosarcoma.
A leiomyosarcoma that is located_in the central nervous system.
leiomyosarcoma of the CNS
A leiomyosarcoma that is characterized by a proliferation of cells containing abundant granular eosinophilic cytoplasm.
A leiomyosarcoma and sarcoma of colon that is located_in the colon.
Colonic leiomyosarcoma
A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.
HIV infection
human immunodeficiency virus infectious disease
A colon cancer that arises from transformed cells of mesenchymal origin and is located_in the colon.
Colonic sarcoma
leiomyosarcoma of Heart
A sarcoma and malignant neoplasm of heart that is located_in the heart.
cardiac sarcoma
sarcoma of Heart
An ovary sarcoma that arises from smooth muscle progenitors.
leiomyosarcoma of Ovary
A leiomyosarcoma that is composed predominantly or entirely of round or polygonal cells with eosinophilic, or much less commonly, clear cytoplasm.
A leiomyosarcoma and sarcoma of lung that is located_in the lung.
pulmonary leiomyosarcoma
A leiomyosarcoma and sarcoma of the anus that is located_in the anus.
leiomyosarcoma of anus
A leiomyosarcoma that is characterized by abundant myxoid stroma.
A small intestine sarcoma that affects the involuntary smooth muscles of the small intestines.
leiomyosarcoma of the small Bowel
smooth muscle connective tissue tumor
A sarcoma and malignant tumor of small intestine that is located_in the small intestine.
sarcoma of the Small Intestine
leiomyosarcoma of the skin
malignant dermis tumour
malignant neoplasm of Dermis
malignant tumor of dermis
malignant tumour of dermis
A gallbladder sarcoma that is located_in the soft tissues of the gallbladder.
leiomyosarcoma of the gallbladder
leiomyosarcoma of esophagus
leiomyosarcoma of oesophagus
oesophagus leiomyosarcoma
A prostate sarcoma that is located_in the prostate.
leiomyosarcoma of the prostate
A vagina sarcoma that has_material_basis_in smooth muscle.
leiomyosarcoma of the vagina
A breast sarcoma that arises from smooth muscle cells.
leiomyosarcoma of the breast
A vulvar sarcoma that has_material_basis_in smooth muscle cells.
A leiomyosarcoma and sarcoma of kidney that is located_in the kidney.
leiomyosarcoma of kidney
A larynx sarcoma that is a smooth muscle connective tissue tymor located_in the larynx.
leiomyosarcoma of Larynx
A uterine Corpus sarcoma and leiomyosarcoma and uterine Corpus smooth muscle neoplasm that is located_in the smooth muscle of the uterus.
leiomyosarcoma of Corpus Uteri
A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks.
A leiomyosarcoma and sarcoma of the mediastinum that derive_from smooth muscle and are usually located_in the esophagus or located_in the main vessels.
leiomyosarcoma of mediastinum
A leiomyosarcoma and sarcoma of bile duct that is located_in the bile duct or located_in the outside of the liver.
leiomyosarcoma of the bile duct
A gastrointestinal system disease that is located_in the intestine.
A leiomyosarcoma and sarcoma of liver that is located_in the liver.
leiomyosarcoma of the Liver
A rectum sarcoma that is a smooth muscle tumor and is located_in the rectum.
leiomyosarcoma of rectum
An endometrial adenocarcinoma that is characterized by the presence of cells with clear cytoplasm.
Clear cell carcinoma of Endometrium
An endocrine system disease that is located_in the pituitary gland.
pituitary disease
An adnexa disease that is located_in the eyelid.
A fallopian tube adenocarcinoma that derives_from epithelial cells which have clear cytoplasm.
Clear cell carcinoma of the fallopian tube
fallopian tube clear cell adenocarcinoma
A uterine ligament adenocarcinoma that derives_from epithelial cells which have clear cytoplasm.
uterine ligament clear cell adenocarcinoma
A cervical adenocarcinoma that derives_from epithelial cells which have clear cytoplasm.
Clear cell carcinoma of the Cervix Uteri
A ovarian adenocarcinoma that derives_from epithelial cells which have clear cytoplasm.
A clear cell adenocarcinoma that is located_in the bladder.
bladder Mesonephric adenocarcinoma
clear cell adenocarcinoma of bladder
A clear cell adenocarcinoma that is located_in the urethra.
Clear cell adenocarcinoma of the urethra
ampulla of Vater clear cell adenocarcinoma
A glycogen-rich carcinoma that is characterized by predominantly clear cytoplasm due to glycogen.
glycogen-rich clear cell breast carcinoma
An alveolar soft part sarcoma and vulvar sarcoma that is located_in the vulva.
A fallopian tube cancer that derives_from germ cells.
fallopian tube germ cell neoplasm
A syndrome characterized by tetraphocomelia, craniofacial anomalies, growth retardation, intellectual disability, and cardiac and renal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in ESCO2 on chromosome 8p21.1.
LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE
RBS
disease of thymus gland
Dental pulp disorder
disorder of pulp of tooth
pulp disorder
Granulosa cell tumor of testis
Granulosa cell tumour of testis
testicular granulosa cell tumour
Gingival polyp
epulides
polyp of Gum
hypertrophy of gingivae
Cyclic neutropenia
Cyclical neutropenia
Neutropenia, periodic
cyclic agranulocytosis
An amnestic disorder that involves the impaired or lost ability to memorize new things.
Pineal Region Yolk Sac neoplasm
An endodermal sinus tumor that occurs in children.
childhood endodermal sinus neoplasm
childhood endodermal sinus tumour
paediatric Yolk Sac tumour
pediatric Yolk Sac tumor
Yolk Sac tumor of the CNS
Yolk Sac tumour of the CNS
central nervous system endodermal sinus tumour
childhood central nervous system endodermal sinus neoplasm
paediatric central nervous system Yolk Sac tumour
pediatric central nervous system Yolk Sac tumor
central nervous system endodermal sinus tumor
testicular Yolk Sac neoplasm
malignant Non-Seminomatous germ cell tumor of testis
testicular non-seminomatous germ cell cancer
An endodermal sinus tumor that occurs in adults.
adult Yolk Sac neoplasm
adult endodermal sinus neoplasm
central nervous system adult germ cell tumour
germ cell tumor of the adult CNS
germ cell tumour of the adult CNS
central nervous system adult germ cell tumor
A disease of mental health that involves disruption of sleep patterns.
Non-organic sleep disorder
An ovarian primitive germ cell tumor that has_material_basis_in cells that line the yolk sac of the embryo.
Endodermal sinus tumor of ovary
Endodermal sinus tumour of ovary
Ovarian Yolk Sac tumor
Ovarian Yolk Sac tumour
ovarian endodermal sinus tumour
A malignant ovarian germ cell neoplasm that has_material_basis_in primitive germ cells.
A intestinal disease located in the colon.
colon disorder
A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity.
Heck disease
Heck's disease
Multifocal epithelial hyperplasia
A liposarcoma that is characterized by the presence of a hypocellular spindle cell proliferation set in a myxoid background and has_material_basis_in chromosomal translocations.
Myxoid/round cell liposarcoma
Coin lesion lung
Coin lesion of lung
A cervical adenocarcinoma that has_material_basis_in remnants of mesonephric ducts and is located anywhere along the length between the ovary and vagina in sites of remnant wolffian ducts.
cervical mesonephric adenocarcinoma
A hemangiopericytoma that is manifested in the breast.
Pilomatricoma
benign pilomatricoma
Hair Matrix neoplasm
Hair matrix tumour
Pilomatricoma, malignant
malignant Pilomatricoma
pilomatrix carcinoma of skin
Hb-D disease
Hb-E disease
A biliary tract benign neoplasm that results_in a small firm white nodule with multiple bile ducts that are located_in a fibrous stroma.
Cholangioadenoma
A Bartholin's gland benign neoplasm that is characterized by glands or glandlike structures and has_material_basis_in epithelial tissue.
Bartholin gland adenoma
A biliary tract benign neoplasm that is located_in the bile duct and derives_from epithelial cells.
Cystadenoma of the bile duct
An adenoma that has_material_basis_in more than one cell type.
A lung benign neoplasm that derives_from glandular epithelial cells.
adenoma of lung
pulmonary adenoma
A sensory organ benign neoplasm that is located_in the middle ear.
adenoma of the middle ear
adenoma of middle ear
Follicular adenoma, oxyphilic cell
Oncocytoma
Total ophthalmoplegia
oculomotor paralysis
An adenoma that is composed_of cells with a clear cytoplasm located_in ovary.
Bronchial adenoma
adenoma of the bronchus
Eosinophil adenoma
PITUITARY ADENOMA, PROLACTIN-SECRETING
Prolactinoma of Pituitary gland
familial prolactinoma
Secretory adenoma of the Pituitary gland
A pituitary carcinoma that is located_in the anterior lobe of the pituitary gland that produces prolactin.
Prolactin Secreting tumor of Pituitary
Prolactin Secreting tumour of Pituitary
Prolactin-Producing Pituitary Gland Carcinoma
malignant Prolactinoma
malignant prolactin producing neoplasm of pituitary gland
prolactin producing pituitary tumour
An adenoma that is composed_of epithelial cells admixed with adipose tissue cells.
A hyperopia that is characterized by eyes that do not properly align with each other when looking at an object.
An adenoma that derives_from epithelial cells which have clear cytoplasm.
A vaginal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin.
A pancreatic cystadenoma that is characterized by innumerable small cysts lined by bland clear cells.
A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs.
Paget disease of bone
Paget's bone disease
osseous Paget's disease
osteitis deformans
Familial Paget's disease of bone
Xref MGI. MESH:C538098 added from NeuroDevNet [WAK].
A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.
oat cell carcinoma
Occult small cell carcinoma of the lung
occult small cell carcinoma of lung
A psychotic disorder that is characterized by recurring episodes of mood fluctuations and a loss of contact with reality.
A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.
schizophrenia-1
A lung small cell carcinoma that is characterized as a multiphasic lung cancer comprised of a mixture of small cell and non-small cell lung carcinoma cells.
Combined small cell carcinoma of the lung
combined type small cell carcinoma of lung
An ovarian disease that is characterized by cystic enlargement of the ovaries and a fluid shift from the intravascular to the third space and has_symptom abdominal pain, has_symptom nausea and has_symptom vomiting. This disease is an iatrogenic complication of assisted reproduction technology.
secondary Meig's syndrome
An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40.
hypergonadotropic hypogonadism
premature menopause
premature ovarian insufficiency
villous adenoma of urinary bladder
Flat Intraepithelial Lesion of the urinary bladder
A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements.
dystonic disease
urinary bladder Papillary Urothelial neoplasm
bladder papillary transitional cell neoplasm
Inverted papilloma of urinary tract
Papillary transitional cell neoplasm of the urinary tract
urinary tract inverted papilloma
urinary tract papillary transitional cell benign neoplasm
bovine spongiform encephalopathy
A bile duct adenoma located_in an intrahepatic bile duct.
adenoma of the Intrahepatic bile duct
adenoma of intrahepatic bile duct
A bile duct ademona that is composed_of papillary, tubular, or combined tubulopapillary structures lined by dysplastic epithelium.
adenoma of the extrahepatic bile duct
adenoma of extrahepatic bile duct
Eccrine hidradenoma
Eccrine hidradenoma of skin
Poroma
Clear cell myoepithelioma
Eccrine spiradenoma
Eccrine spiradenoma of skin
benign eccrine spiradenoma
papillary syringadenoma
A eccrine sweat gland neoplasm that is characterized by isolated well-circumscribed dermal nodule existent for a prolonged duration of time.
Eccrine papillary adenoma of skin
papillary eccrine adenoma
A pulmonary hypertension that is characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension.
pulmonary veno-occlusive disease
OMIM has split this term into two subtypes.
laryngeal neuroendocrine tumour
neuroendocrine tumor of Larynx
neuroendocrine tumour of Larynx
A pre-malignant neoplasm that is characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that is restricted within the epithelium.
Intraepithelial Neoplasia of Conjunctiva
Conjunctival tumor
malignant Conjunctival tumor
malignant neoplasm of conjunctiva
malignant tumor of conjunctiva
neoplasm of conjunctiva
A biliary tract benign neoplasm characterized by multiple papillary tumors in the intrahepatic and/or extrahepatic biliary tree.
bile duct papillomatosis
biliary tract intraductal papillary mucinous neoplasm
An ovarian benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by the presence of serous fluid.
An uterine benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.
adenofibroma of Corpus Uteri
adenofibroma of uterine corpus
A cervical benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.
An adenofibroma that is characterized by the presence of cells with clear cytoplasm.
A fallopian tube benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.
An adenofibroma that is characterized by finger-like projections on histology.
An ovarian benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by endometrial tissue.
An ovarian benign neoplasm that is composed_of epithelial ovarian tissue.
fibrous sarcoma of Synovium
A synovium cancer which develops in the synovial membrane of the joints.
Synovial sarcoma with spindle cell Components
Synovial sarcoma, monophasic fibrous
A synovial sarcoma that is located_in the mediastinum.
Synovial sarcoma of mediastinum
Biphasic sarcoma of Synovium
Synovial sarcoma, biphasic
Synovial sarcoma, epithelioid cell
epithelioid Synovial sarcoma
Monophasic sarcoma of Synovium
A lice infestation that involves colonization of the hair and skin by the parasitic insect Pediculus humanus capitis, which feeds on blood several times daily and resides close to the scalp to maintain its body temperature. The symptoms include tickling feeling of something moving in the hair, itching, caused by an allergic reaction to louse saliva, and irritability.
Pediculosis capitis
Pediculus capitis
Pediculus capitis infestation
head louse infestation
A parasitic ectoparasitic infectious disease that involves infestation of lice, which are blood-feeding ectoparasitic insects of the order Phthiraptera.
Infestation by Pediculus
Louse infestation
Pediculosis + lice
Pediculosis and phthirus infections
Pediculosis and phthirus infestation
mixed pediculosis
mixed pediculosis infestation
pediculosis
pediculosis and phthirus infection
A high grade ependymoma that has_material_basis_in cells linking the spinal cord central canal.
Ependymal neoplasm of the Spinal Cord
A high grade ependymoma that is characterized by abnormal growth of the neuroepithelial lining of the ventricular system, has_material_basis_in abnormally proliferating cells derives_from ependymal cells.
Ependymoma of the Brainstem
A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects.
acute chemical fume pulmonary edema
acute chemical pulmonary edema
A dysgerminoma that is located_in the ovary.
Ovarian Dysgerminoma
A lice infestation that is a cutaneous condition caused by parasitic infestation of body lice Pediculus humanus corporis, which feed on the human blood. Body lice can spread epidemic typhus, trench fever, and louse-borne relapsing fever.
Pediculus corporis
Pediculus humanus infestation
body louse infestation
A breast metaplastic carcinoma that arises from squamous epithelial cells.
SCC of breast
breast primary squamous cell carcinoma
primary squamous cell carcinoma of the breast
primary squamous cell carcinoma of breast
squamous cell carcinoma of breast
A nasal cavity carcinoma that has_material_basis_in squamous cells.
squamous cell carcinoma of the nasal cavity
squamous cell carcinoma of nasal cavity
A squamous cell carcinoma that is located_in the stomach.
squamous cell carcinoma of stomach
A stomach cancer that is located_in the stomach.
cancer of the stomach
carcinoma of stomach
gastric carcinoma
A penis carcinoma that has_material_basis_in squamous cells.
Epidermoid cell carcinoma of penis
squamous cell carcinoma of penis
A squamous cell carcinoma that is located_in the colon.
Colonic Epidermoid carcinoma
squamous cell carcinoma of colon
A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.
acute pneumonia
A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck.
carcinoma of the head and neck
squamous cell carcinoma of the head and neck
squamous cell carcinomas of head and neck
A squamous cell carcinoma that presents as single, isolated cells with bizzare cytoplasmic shapes, intense cytoplasmic eosinophilia, and intensely hyperchromatic, angular nuclei in a background of necrotic and keratinous debris.
keratinizing epidermoid carcinoma
squamous cell carcinoma, keratinizing
A squamous cell carcinoma that has a solid, closely packed growth of cells with hyperchromatic nuclei, scant cytoplasm, small cystic spaces, and foci of necrosis. It has overlying squamous dysplasia, rare foci of overt keratinization, and/or coexistent keratinizing squamous cell carcinoma.
Basaloid carcinoma
A squamous cell carcinoma that is characterized by a tubular microscopic pattern and keratinocyte acantholysis.
Acantholytic squamous cell carcinoma
Pseudoglandular squamous carcinoma
adenoacanthoma
adenocarcinoma with squamous metaplasia
An anal carcinoma that arises near the squamocolumnar junction.
Epidermoid anal carcinoma
A middle ear carcinoma that has_material_basis_in squamous cells.
Epidermoid carcinoma of the middle ear
squamous cell carcinoma of middle ear
An ampulla of Vater carcinoma that derives_from epithelial squamous cells.
ampulla of Vater squamous cell carcinoma
A squamous cell carcinoma that is located_in the rectum.
squamous carcinoma of rectum
squamous cell carcinoma of the rectum
A squamous cell carcinoma that is located_in the lacrimal gland.
Epidermoid carcinoma of the lacrimal gland
squamous cell carcinoma of lacrimal gland
A squamous cell carcinoma that is located_in the thymus.
Epidermoid Thymic carcinoma
An ovarian carcinoma that derives_from squamous epithelial cells.
An endometrial carcinoma that has_material_basis_in squamous cells.
squamous cell carcinoma of Endometrium
A squamous cell carcinoma that is located_in the renal pelvis.
Epidermoid carcinoma of the kidney Pelvis
squamous cell carcinoma of renal pelvis
A squamous cell carcinoma that is located_in the gallbladder.
Epidermoid gallbladder carcinoma
squamous cell carcinoma of the gallbladder
spindle cell (sarcomatoid) squamous cell carcinoma
spindle cell (sarcomatoid) squamous cell skin carcinoma
spindle cell squamous carcinoma of skin
spindle cell squamous cell carcinoma
squamous cell carcinoma, sarcomatoid
sarcomatoid squamous cell skin carcinoma
A squamous cell carcinoma that is located_in the bile duct.
bile duct squamous cell carcinoma
A squamous cell carcinoma that is located_in the external ear.
Epidermoid carcinoma of the External ear
squamous cell carcinoma of external ear
A squamous cell carcinoma that is located_in the ureter.
ureteral Epidermoid carcinoma
A fallopian tube carcinoma that derives_from squamous epithelial cells.
squamous cell carcinoma of the fallopian tube
anal neuroendocrine tumour
neuroendocrine tumor of anus
neuroendocrine tumour of anus
A bone cancer that is located_in the femur.
neoplasm of femur
femoral neoplasm
A choriocarcinoma that is located_in the pulmonary artery.
Syncytioma of pulmonary artery
A malignant ovarian germ cell neoplasm that has_material_basis_in trophoblastic cells.
Ovarian Choriocarcinoma
A choriocarcinoma that is located_in the testis.
testicular Choriocarcinoma
Pineal Choriocarcinoma
malignant germ cell tumor of testis
A testicular cancer that has_material_basis_in germ cells.
germ cell tumor of testis
testicular germ cell neoplasm
A thoracic cancer that is located_in the mediastinum.
Tumour of mediastinum
mediastinal tumor
mediastinum cancer
neoplasm of mediastinum
mediastinal mesenchymal tumour
soft tissue tumor of mediastinum
soft tissue tumour of mediastinum
A teratoma that is located_in the stomach or other gastric tissue.
teratoma of stomach
Immature teratoma
Teratoma, malignant, NOS
malignant Extragonadal teratoma
primary malignant extragonadal teratoma
A fallopian tube germ cell cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers.
A benign teratoma that is present in an adult.
A teratoma that is composed exclusively of mature tissues derived from two or three germ layers.
germ cell teratoma of Ovary
A teratoma that is located_in the mediastinum.
teratoma of mediastinum
Microcystic Adnexal carcinoma
Microcystic adnexal carcinoma of skin
Syringomatous carcinoma
A urinary system disease that is located_in the kidney.
nephropathy
Eccrine ductal carcinoma
Eccrine ductal carcinoma of skin
anaplastic syringoma
A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations.
VIP- Secreting tumor
Vasoactive intestinal peptide-secreting tumor
Vipoma, malignant
malignant vasoactive intestinal peptide-secreting tumor
male Orgasmic disorder
A neuroendocrine tumor that results_in an overproduction of gastric acid.
Gastrin Secreting tumor
Gastrin cell tumour
malignant gastrinoma
gastric G-cell gastrin producing tumor
pancreatic G-cell tumor
A lung carcinoma that is located_in large undifferentiated cells.
Giant cell carcinoma
Giant cell lung carcinoma
Multiple self-healing epithelioma of Ferguson-Smith
A connective tissue disease that develops from prolonged ischemia and results in permanent necrosis, stiffening, and shortening of affected muscles.
Volkmann's ischemic contracture
A papillary adenocarcinoma that is located_in the lung.
Papillary adenocarcinoma of the lung
A sweat gland carcinoma characterized by predominantly digital location with a high recurrence rate and metastatic potential.
aggressive digital papillary adenocarcinoma
Digital papillary adenocarcinoma
A breast carcinoma that is characterized by the presence of arborescent fibrovascular stalks lined by epithelial cells, grossly forming a circumscribed mass.
Papillary carcinoma of the breast
breast solid papillary carcinoma
papillary carcinoma of breast
solid papillary carcinoma of the breast
A papillary adenocarcinoma that is located_in the stomach.
Papillary adenocarcinoma of stomach
Papillary carcinoma of the Thymus
A fallopian tube adenocarcinoma that is characterized by a papillary growth pattern.
Papillary adenocarcinoma of the fallopian tube
A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions.
A cranial nerve disease characterized by unilateral congenital ptosis and rapid exaggerated elevation of the ptotic lid on moving of the lower jaw.
Jaw-blinking
Marcus-Gunn syndrome
Pterygoid-levator synkinesis
abnormal innervation syndrome of eyelid
An adult acute lymphocytic leukemia occurring in adults and that has_material_basis_in T cells.
ATLL
Acute Adult T-cell Leukemia-Lymphoma
adult Precursor T Lymphoblastic Leukemia
An acute lymphoblastic leukemia that is characterized by too many T-cell lymphoblasts found in the bone marrow and blood.
Precursor T Lymphoblastic Leukemia
T Acute Lymphoblastic Leukemia
T-cell acute lymphocytic leukaemia
precursor T-lymphoblastic lymphoma/leukemia
An acute lymphocytic leukemia occurring during adulthood.
adult acute lymphoid Leukemia
A breast adenocarcinoma that is characterized by a syncitial growth pattern and high grade cytology.
Medullary breast carcinoma with lymphoid Stroma
medullary carcinoma of breast
pulp calcification
pulp calcifications
pulpal calcifications
A central nervous system cancer that is located_in the spinal cord. It is mostly formed from metastases from primary cancers elsewhere (commonly breast, prostate, and lung cancer).
Intraspinal tumor
malignant tumor of the Spinal Cord
spinal cord neoplasm
tumor of the Spinal Cord
spinal neoplasm
An eye and adnexa disease that is located_in the eye.
Intradural Extramedullary Spinal tumors
spinal canal intradural extramedullary neoplasm
Oculomotor nerve disorder
disorder of oculomotor nerve
A sarcoma and hematologic cancer that derives_from follicular lymphoma.
histiocytic and dendritic cell
A breast metaplastic carcinoma that is characterized by well-developed gland formation intimately admixed with solid nests of squamous cells immersed in a highly cellular spindle cell stroma.
A bile duct carcinoma that derives_from squamous cells and gland-like cells.
bile duct Adenosquamous carcinoma
An esophageal carcinoma that derives_from squamous cells and gland-like cells.
A thymic carcinoma that derives_from squamous cells and gland-like cells.
Adenosquamous carcinoma of the Thymus
A gallbladder carcinoma that derives_from squamous cells and gland-like cells.
Adenosquamous carcinoma of the gallbladder
adenosquamous carcinoma of gallbladder
An ampulla of Vater carcinoma that derives_from squamous cells and gland-like cells.
ampulla of Vater adenosquamous carcinoma
A colon carcinoma that derives_from squamous cells and gland-like cells.
Colonic Adenosquamous carcinoma
adenosquamous carcinoma of colon
A Bartholin's gland carcinoma that derives_from squamous cells and gland-like cells.
Bartholin gland adenosquamous carcinoma
Bartholin's gland adenosquamous carcinoma
An endometrial carcinoma that derives_from squamous cells and gland-like cells.
Adenosquamous carcinoma of Endometrium
meningioma of optic nerve sheath
A prostate carcinoma that derives_from squamous cells and gland-like cells.
Adenosquamous carcinoma of the prostate
adenosquamous carcinoma of prostate
Adenosquamous carcinoma of stomach
A cervical carcinoma that derives_from squamous cells and gland-like cells.
Adenosquamous carcinoma of cervix
Adenosquamous cell carcinoma of the Cervix Uteri
A pancreatic ductal carcinoma that derives_from squamous cells and gland-like cells.
Adenosquamous carcinoma of pancreas
adenosquamous carcinoma of the pancreas
malignant Giant cell neoplasm of soft Parts
malignant giant cell tumor of soft parts
A pulmonary fibrosis that is characterized by diffuse destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombing, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation.
A pulmonary fibrosis that is characterized by localized destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombing, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation.
A choroid plexus cancer that has_material_basis_in epithelial cells of the choroid plexus.
Hypoactive bilateral labyrinthine dysfunction
Hypoactive labyrinth, bilateral
An optic nerve disease that is characterized by lesions of the optic chiasm, manifesting as various impairments of the sufferer's visual field according to the location of the lesion along the optic nerve.
chiasma syndrome
disorder of optic chiasm
A neuropathy that is located_in one of the twelve cranial nerves.
Cranial nerve disorder
disorder of cranial nerve
A breast carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids.
A carcinoma that is a malignant epithelial neoplasm densely infiltrated by lymphoid cells.
Nasopharyngeal type Undifferentiated carcinoma
lymphoepithelial carcinoma
A sarcomatoid carcinoma that is consisting of spindle or giant cells (or both) combined with squamous cell carcinoma, adenocarcinoma, or large-cell carcinoma.
An ear cancer that is located_in the external ear.
malignant neoplasm of the External ear
malignant tumor of external ear
carcinoma of the Sweat gland
A ductal carcinoma in situ that is characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells.
Comedocarcinoma
An intestinal cancer that effects the long, tube-like organ that is connected to the small intestine at one end and the anus at the other.
A breast carcinoma that is characterized by an irregular cribriform growth pattern, nuclear grade I in at least 90% of cells, and absent myoepithelial cells.
ductal carcinoma, cribriform type
An extragonadal germ cell cancer that are located_in the pineal gland in the brain, located_in the mediastinum or located_in the abdomen.
primary malignant Extragonadal Nonseminoma
malignant extragonadal nonseminomatous germ cell tumor
Retinal nerve fiber bundle defects
Retinal nerve fiber bundle deficiency
An eye disease that is located_in the retina.
An embryonal carcinoma that is located_in the testis.
Embryonal carcinoma of testis
testicular embryonal carcinoma
embryonal carcinoma of the testis
An embryonal carcinoma that is located_in the ovary.
Embryonal carcinoma of ovary
Embryonal carcinoma of the Ovary
A syndrome characterized by the higher than normal tendency associated with BRCA1 and BRCA2 to develop breast and ovarian cancers in genetically related families.
BRCA1- and BRCA2-associated hereditary breast and ovarian cancer
Breast and Ovarian Cancer syndrome
HBOC syndrome
Hereditary Breast and Ovarian Cancer syndrome
Hereditary breast and ovarian cancer
hereditary breast ovarian cancer syndrome
A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance.
Spondylar and nasal Alterations-Striated Metaphyses syndrome
sponastrime dysplasia
spondyloepimetaphyseal dysplasia, Sponastrime type
A progeroid syndrome characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers and that has_material_basis_in mutations in the WRN gene, on chromosome 8.
Werner's syndrome
adult premature ageing syndrome
adult progeria
A liposarcoma that is characterized as a slow growing, painless tumor usually located in the retroperitoneum or the limbs and derives_from proliferating mature adipocytes.
atypical lipomatous tumor
visual cortex dysfunction
Round cell liposarcoma
Liposarcoma of esophagus
Liposarcoma of oesophagus
oesophagus liposarcoma
A liposarcoma that is located_in the larynx.
Liposarcoma of Larynx
An ovary sarcoma that arises from fatty tissue.
Liposarcoma of Ovary
A liposarcoma that is located_in the kidney.
Liposarcoma of kidney
An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle.
Rheumatic aortic insufficiency
Rheumatic aortic regurgitation
Rheumatic aortic valve regurgitation
aortic incompetence
aortic insufficiency
aortic regurgitation
rheumatic aortic valve insufficiency
Corrigan's disease
Liposarcoma of the stomach
A breast sarcoma that arises from fat cells.
Liposarcoma of the breast
A vulvar sarcoma that has_material_basis_in adipocytes.
Liposarcoma of the skin
A liposarcoma that is located_in the mediastinum.
Liposarcoma of mediastinum
Non-Functioning neoplasm of the Pituitary
Non-Secretory adenoma of the Pituitary gland
Pituitary tumors, Hormone Producing
Somatotropinoma
growth hormone producing pituitary tumor
An adrenal gland cancer that derives_from immature neuroblastic cells.
neuroblastoma of Adrenal gland
An adrenal gland cancer that is located_in the adrenal medulla.
adrenal medulla neoplasm
adrenal medulla tumor
malignant neoplasm of adrenal medulla
malignant tumor of the Adrenal Medulla
mononeuritis of upper limb and mononeuritis multiplex
An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve.
atrophy of optic disc
A seminal vesicle tumor that derives_from glandular epithelial cells and that is located_in the seminal vesicle.
A rete ovarii adenoma that is characterized by the presence of cysts and/or cystic spaces.
A uterine benign neoplasm that is located_in the uterine ligament and has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed and is characterized by the formation of fingerlike projections.
uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease
A uterine cancer that is located_in the ligaments that support the uterus.
tumor of the uterine Ligament
A peritoneal benign neoplasm that is located throughout the peritoneum and derives_from smooth muscle.
leiomyomatosis peritonealis disseminata
A leiomyomatosis that is located within the blood vessels.
Compression neuropathy
entrapment neuropathy
peripheral nerve entrapment syndrome
A chronic salpingitis that is caused by is nodular thickening of the narrow part of the uterine tube, due to inflammation.
Pyosalpingitis
A fallopian tube disease that is characterized by inflammation of the fallopian tube.
A nervous system disease that affects the peripheral nervous system.
peripheral nerve disease
peripheral neuropathy
small intestinal VIP Producing tumor
small intestinal VIP Producing tumour
small intestinal vasoactive intestinal peptide producing tumour
small intestinal vasoactive intestinal peptide producing tumor
pancreatic VIP Producing tumor
pancreatic VIP Producing tumour
pancreatic vasoactive intestinal peptide producing tumour
pancreatic vasoactive intestinal peptide producing tumor
A pancreatic adenocarcinoma that has_material_basis_in cells with morphological resemblance to acinar cells and is associated with increased serum lipase.
pancreatic acinar cell carcinoma
A breast adenocarcinoma that is characterized by widespread acinar cell-like differentiation.
An ovary adenocarcinoma that derives_from the lining of a cavity that produces a serum-like fluid (a serous cavity).
malignant ovarian serous tumor
serous carcinoma of Ovary
An ovary serous adenocarcinoma that has_material_basis_in glandular epithelium, in which cystic accumulations of retained secretions are formed.
serous cystadenoma
A uterine ligament adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions.
Rheumatic disease of pulmonary valve
Rheumatic pulmonary incompetence
pulmonary valve disorder
A uterine corpus cancer that is characterized histologically by papillae with fibrovascular cores, marked nuclear atypia, psammoma bodies and cilia.
uterine papillary serous carcinoma
uterine serous carcinoma
A serous cystadenocarcinoma tha tis located_in the pancreas.
serous cystadenocarcinoma of pancreas
A cervical adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions.
A cervicitis that is located_in the endocervix.
Mesenchymoma, malignant
Sebaceous neoplasm
A kidney disease that is characterized by the presence of excess proteins in the urine.
A breast carcinoma that is characterized by a lobular or nested growth pattern of tumor cells variably admixed with cells displaying sebaceous differentiation. It is a distinct variant of invasive ductal carcinoma.
A vulva carcinoma that is characterized by the presence of sebaceous secretions.
lung primary meningioma
primary pulmonary meningioma
pulmonary meningioma
Pneumocytoma
lung Hilum tumor
neoplasm of hilus of lung
An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children.
AFD
Nager syndrome
acrofacial dysostosis 1, Nager type
preaxial acrofacial dysostosis
preaxial manibulofacial dysostosis
Cutaneous Verruciform Xanthoma
Verruciform xanthoma
A hematologic cancer and central nervous system neoplasm that is located_in the central nervous system.
CNS hematopoietic tumor
hematopoietic neoplasm of central nervous system
central nervous system hematologic cancer
A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues.
Oral cavity Submucous Fibrosis
Oral submucosal fibrosis
Oral submucosal fibrosis, including of tongue
Colonic Cavernous hemangioma
neuroendocrine tumor of rectum
esophageal neuroendocrine tumour
neuroendocrine tumor of esophagus
neuroendocrine tumour of oesophagus
mixed epithelial and mesenchymal hepatoblastoma
A nephrolithiasis that is characterized by stones composed predominantly uric acid.
An aortic valve stenosis that is characterized by a narrowing of the section of the heart under the aortic valve resulting in left ventricular outflow obstruction.
Salmon patch nevus
Unna's nevus
A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP.
ADA
A severe combined immunodeficiency that is characterized by deficiency of MHC class II molecules that causes lack of immune protection against bacteria, viruses, and fungi and thus causes early death in childhood, and has_material_basis_in autosomal recessive inheritance of mutation in the CIITA, RFX5, RFXANK, and RFXAP genes.
BLSII
SCID due to absent class II HLA antigens
bare lymphocyte syndrome type II
A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has_material_basis_in mutation in the PNP gene and characterized mainly by decreased T-cell function.
PNP deficiency
Purine-Nucleoside Phosphorylase deficiency
deficiency of inosine phosphorylase
purine nucleoside phosphorylase deficiency
A cerebrum cancer that affects the lymph cells and derives_from the brain.
brain primary lymphoma
primary Lymphoma of Cerebrum
primary cerebral lymphoma
A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time.
methotrexate-associated lymphoproliferation
A lymphoma that is characterized by having cellular features of both classic Hodgkin's lymphomas and large B-cell Lymphomas.
A breast cancer that arises_from lymphocytes.
Lymphoma of the breast
lymphoma of breast
malignant lymphoma of breast
An ovary adenocarcinoma that has_material_basis_in endometrial tissue.
Ovarian endometrioid carcinoma
endometrioid carcinoma ovary
endometrioid carcinoma of ovary
A uterine ligament adenocarcinoma that derives_from endometrial epithelial cells of glandular origin.
uterine ligament endometrioid adenocarcinoma
ANEMIA HEMOLYTIC
OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS].
A cervical adenocarcinoma that derives_from endometrial epithelial cells of glandular origin.
endometrioid carcinoma of the Cervix Uteri
A fallopian tube adenocarcinoma that derives_from endometrial epithelial cells of glandular origin.
endometrioid carcinoma of the fallopian tube
fallopian tube endometrioid cancer
fallopian tube endometrioid neoplasm
fallopian tube endometrioid adenocarcinoma
spermatocytic seminoma
primary extragonadal seminoma
Seminoma of testis
Seminoma testis
testicular Seminoma Pure
A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.
Myocardial infarct
heart attack
A kidney disease characterized by the formation of stoney concentrations in the kidneys.
Stone - kidney/ureter
kidney stones
A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night.
Pneumonia, eosinophilic
germ cell tumor of Retroperitoneum
A thoracic cancer located_in the retroperitoneal space in the abdominal cavity behind the peritoneum.
malignant neoplasm of retroperitoneum and peritoneum
malignant tumor of peritoneum and retroperitoneum
neoplasm of retroperitoneum
neoplasm of the retroperitoneum
retroperitoneal neoplasm
tumor of retroperitoneum
malignant neoplasm of retroperitoneum
malignant retroperitoneal cancer
Apocrine tumor
malignant Endocardial tumor
malignant neoplasm of endocardium
malignant tumor of endocardium
Well-differentiated Papillary tumor of Mesothelium
Ependymoma, anaplastic
Undifferentiated Ependymoma
congenital hemolytic anaemia
hereditary hemolytic anaemia
hereditary hemolytic anemia
A cystadenofibroma that is characterized by the presence of cells with clear cytoplasm.
An ovarian clear cell adenofibroma that is characterized by the presence of cysts and/or cystic spaces.
An ovarian benign neoplasm that is characterized by the presence of serous fluid and has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.
A central nervous system benign neoplasm that is characterized as diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges.
Leptomeningeal melanocytoma
melanocytoma of meninges
Non-Invasive Penile verrucous carcinoma
verrucous squamous carcinoma of penis
An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation.
tumor of the Brachial Plexus
Nonencapsulated Sclerosing neoplasm
Papillary carcinoma, diffuse sclerosing
An uterine corpus leiomyomatosis that is located_in the blood vessels.
Intravascular leiomyomatosis of Uterus
An uterine benign neoplasm that is characterized by the presence of multiple tumors composed of smooth muscle cells.
An uterine corpus leiomyomatosis that is located throughout the uterine corpus.
adult brain stem mixed glioma
carcinoma of the Distal biliary tract
Oat cell extrahepatic bile duct carcinoma
extrahepatic bile duct small cell adenocarcinoma
A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable.
Fear of open spaces
An ovarian primitive germ cell tumor that is characterized by the presence of two or more types of malignant, primitive, germ cell components.
mixed germ cell tumor of Ovary
An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress.
panic anxiety syndrome
malignant neoplasm of the peripheral nerve Sheath
A papillary carcinoma that is located_in the kidney pelvis.
Papillary carcinoma of renal Pelvis
Urothelial cell carcinoma of renal Pelvis
renal pelvis transitional cell carcinoma
Papillary neoplasm of renal Pelvis
Occlusion and stenosis of multiple and bilateral precerebral arteries
occlusion and stenosis of precerebral artery
neoplasm of renal pelvis
tumor of kidney Pelvis
tumor of renal pelvis
Fibrosarcoma of the kidney
A kidney sarcoma that starts in the bones and that is located in the kidney.
renal Osteogenic sarcoma
A phobic disorder that is characterized by an unreasonable or irrational fear related to exposure to specific objects or situations.
simple phobia
meningioma of the Internal Auditory canal
A breast fibrocystic disease that is characterized by the absence of epithelial cell hyperplasia.
Non-Proliferative Fibrocystic Change
non-proliferative fibrocystic change of the breast
A breast disease that is characterized by a haphazard infiltration of small, uniformly open, and round glands which are lined by a monolayer of flat to cuboidal epithelial cells that lack a myoepithelial layer, the absence of stromal desmoplasia and the presence of a thickened basement membrane.
Adenosis - breast
Adenosis of the breast
A non-proliferative fibrocystic change of the breast that is characterized by sclerosing adenosis with apocrine change.
Apocrine Adenosis of the breast
A specific phobia that involves a fear caused by the presence or thought of a specific animal that poses little or no danger at all.
Fear of animals
Zoophobia
A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.
CHF
Cardiac Failure Congestive
Congestive heart disease
Weak heart
A gastrointestinal system disease that is located_in the appendix.
An artery disease that is located in the lungs.
A female reproductive system disease that is located in Bartholin's gland.
A vulva cancer that is located in Bartholin's gland.
A cardiovascular organ benign neoplasm that is located_in the cerebrovascular system.
An endocrine organ benign neoplasm that is located_in some parathyroid gland.
A benign neoplasm located in the pituitary gland.
A breast sarcoma that arises from fibrous connective tissue and is characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern.
Fibrosarcoma of the breast
An aleukemic leukemia that is characterized by the infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood.
A leukemia that arises from changes in the tissues forming white blood cells and characterized by the absence of leukemic cells in the peripheral blood.
aleukemic myelosis
teratoma of the adult central nervous system
adult central nervous system mature teratoma
A mature teratoma that is located_in the central nervous system.
Mature teratoma of the CNS
adult central nervous system immature teratoma
A malignant teratoma that is located_in the central nervous system.
Immature teratoma of the CNS
central nervous system immature teratoma
Fear of getting cancer
cancer phobia
A dysgammaglobulinemia that is characterized by isolated deficiency of IgE and subsequent mildly increased susceptibility to parasitic infections and allergic or autoimmune-related diseases.
Selective IgE Immunodeficiency
Selective immunoglobulin E deficiency
A B cell deficiency that is characterized by deficiency of an immunoglobulin subtype. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity.
selective immunoglobulin deficiency disease
Juvenile granulosa cell tumor
Juvenile granulosa cell tumour
Juvenile type Granulosa cell tumor
Juvenile type Granulosa cell tumour
juvenile type granulosa cell neoplasm
juvenile type testicular granulosa cell tumour
juvenile type testicular granulosa cell tumor
Fibrosarcoma of the Heart
cardiac fibrosarcoma
A heart sarcoma that is a soft tissue sarcoma located in the heart.
malignant hemangiopericytoma of Heart
An ocular malanoma that derives_from melanocytes in the uveal tract that results_in_formation_of spindle-shaped cells.
Uveal spindle cell melanoma
A uveal cancer that has_material_basis_in uvea pigment cells.
melanoma of Uvea
A malignant choroid melanoma that is located_in the choroid.
spindle cell melanoma of the Choroid
A ciliary body cancer that is located_in the ciliary body and composed of spindled neoplastic cells arranged in sheets and fascicles.
spindle cell melanoma of the Ciliary body
A specific phobia that is characterized by a fear of flying.
A gastrointestinal system disease that is located_in the esophagus.
esophageal Ulcer
central nervous system childhood germ cell tumour
paediatric germ cell neoplasm of CNS
pediatric germ cell neoplasm of CNS
central nervous system childhood germ cell tumor
A germ cell cancer that presents in childhood.
paediatric germ cell cancer
paediatric germ cell neoplasm
pediatric germ cell neoplasm
pediatric germ cell tumor
Schneiderian papilloma of the Frontal sinus
papilloma of nasal vestibule
squamous papilloma of the nasal Vestibule
Brown-Squard syndrome
urinary tract non-invasive transitional cell neoplasm
An ovary epithelial cancer that is characterized by the presence of mucin.
Ovarian mucinous tumor
malignant ovarian mucinous neoplasm
mucinous tumor of Ovary
Paraplegia, lower
paediatric testicular germ cell neoplasm
paediatric testicular germ cell tumour
pediatric testicular germ cell neoplasm
An ovarian endodermal sinus tumor that presents in childhood.
childhood ovarian endodermal sinus neoplasm
childhood ovarian endodermal sinus tumour
childhood ovarian yolk sac tumor
childhood ovarian yolk sac tumour
paediatric Ovarian Yolk Sac tumour
pediatric Ovarian Yolk Sac tumor
childhood ovarian endodermal sinus tumor
An ovarian germ cell cancer that presents in childhood.
paediatric Ovarian germ cell neoplasm
paediatric ovarian germ cell tumour
pediatric Ovarian germ cell neoplasm
melanoma of the leptomeninges
malignant leptomeningeal tumour
malignant tumor of Leptomeninges
malignant tumour of Leptomeninges
An anxiety disorder that has_symptom flashbacks, has_symptom bad dreams, has_symptom frightening thoughts, has_symptom avoidance or has_symptom hyperarousal of PTSD occurring within one month of a traumatic experience as Acute Stress Disorder or ASD.
traumatic stress disorder
melanoma of adult Leptomeninges
malignant neoplasm of thalamus
malignant tumor of Thalamus
tumor of Thalamus
Mitral RH valve dis.
Rheumatic mitral insufficiency
Rheumatic mitral valve changes
Rheumatic mitral valve regurgitation
chronic rheumatic mitral valve
disease of mitral valve
rheumatic disease of mitral valve
rheumatic mitral valve incompetence
A cervical mucinous adenocarcinoma that is characterized by the presence of signet ring cells.
signet ring cell variant cervical mucinous adenocarcinoma
A viral gastritis that involves inflammation of the stomach lining caused by herpes simplex virus.
meningioma of the Thoracic Spinal canal and Spinal Cord
thoracic spinal canal and spinal cord meningioma
meningioma of the Jugular Foramen
meningioma of Cerebrum
Cerebral Hemispheric Convexity meningioma
meningioma of the Lateral Ventricle
Inverted papilloma of the kidney Pelvis
An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.
hypoimmunity
immune deficiency disorder
immunodeficiency syndrome
An anal canal cancer that derives_from epithelial cells.
anal canal and Perianal gland carcinoma
A brain cancer that is characterized by a pattern of diffuse infiltration of the brain that affect various areas of the cerebral lobes and has_material_basis_in abnormally proliferating cells, derives_from glial cells.
Astrocytosis cerebri
A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness.
CI - Chest infection
Chest infection
acute Bronchitis
chest cold
chronic bronchitis
recurrent wheezy bronchitis
acute bronchitis and bronchiolitis
A uterus leiomyosarcoma characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm.
uterine corpus epithelioid leiomyosarcoma
A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood.
Lymphocytopenia
An in situ carcinoma that is located_in the nasal cavity.
carcinoma in situ of nasal cavities
carcinoma in situ of nasal cavity
stage 0 carcinoma of the nasal cavity
A leukocyte disorder that is characterized by a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection.
Leucopenia
A choriocarcinoma of the testis that is present during childhood.
pediatric testicular Choriocarcinoma
childhood testicular mixed germ cell tumour
paediatric testicular mixed germ cell tumour
pediatric testicular mixed germ cell tumor
childhood testicular mixed germ cell tumor
An embryonal testis carcinoma that occurs in children.
pediatric testicular Embryonal carcinoma
childhood embryonal carcinoma of the testis
Hereditary Papillary renal carcinoma
A malignant ovarian surface epithelial-stromal neoplasm that is a mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components.
Ovarian MMMT
ovarian malignant mesodermal (mullerian) mixed tumor
ovarian malignant mixed Mullerian tumor
A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma.
mixed mullerian sarcoma of uterus
Schwannoma of mediastinum
An ovarian carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.
A sarcoma of the rectum that results_in lesions that are located_in the rectum.
Kaposi's sarcoma of rectum
rectum Kaposi sarcoma
Xanthosarcoma
malignant inflammatory fibrous histiocytoma
A connective tissue cancer that is characterized by the presence of epithelioid cells forming nodular patterns and has_material_basis_in mesenchymal tissue.
epithelioid cell sarcoma
A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids.
Madras eye
An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body.
Fiessinger Leroy Reiter syndrome
Post-bacterial arthropathy
Reiter disease
Reiter's disease
postdysenteric arthropathy
conventional malignant hemangiopericytoma
Corneal tumor
malignant Corneal tumor
malignant neoplasm of cornea
malignant tumor of cornea
neoplasm of cornea
A heart valve disease that is located_in the aortic valve.
blood protein disorder
malignant Pericardial Mesothelioma
malignant mesothelioma of pericardium
PLAT
Follicular adenoma of the Thyroid gland
Thyroid follicular adenoma
Osteosarcoma of mediastinum
A hemangiopericytoma and sarcoma of the mediastinum that is located_in the mediastinum.
malignant hemangiopericytoma of mediastinum
malignant mediastinum hemangiopericytoma
bladder diffuse clear cell adenocarcinoma
An ovarian benign neoplasm that is biphasic and has_material_basis_in epithelial and mesenchymal elements.
Ovarian mixed epithelial tumor
Ovarian mixed epithelial tumour
mixed epithelial tumour of ovary
An ovary epithelial cancer that has_material_basis_in the endometrium and is located_in the ovary.
endometrioid neoplasm of Ovary
malignant ovarian endometrioid tumor
ovarian endometrioid neoplasm
An ovary epithelial cancer that is characterized by the presence of finger-like projections on histology.
Ovarian papillary tumor
Ovarian papillary tumour
Papillary tumor of Ovary
A gastric adenocarcinoma that is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma.
A stomach disease characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, skin hyperpigmentation, and diarrhea.
gastric Cronkhite Canada polyposis
polyposis, skin pigmentation, alopecia, and fingernail changes
A cartilage disease that is characterized by damage to the cartilage that covers the ends of the bones.
primary serous papillary carcinoma of peritoneum
peritoneal serous papillary adenocarcinoma
A mature teratoma of the ovary that presents in childhood.
pediatric Mature teratoma of Ovary
An ovarian germ cell teratoma that presents in childhood.
pediatric teratoma of Ovary
An ovarian biphasic or triphasic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm).
An ovarian germ cell teratoma that is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm.
Papillary urothelial neoplasm of low malignant potential
bladder PUNLMP
bladder papillary neoplasm of low malignant potential
non-invasive bladder papillary urothelial neoplasm
transient hypogammaglobulinemia of infancy
Oncocytoma of kidney
renal epithelial Oncocytic tumor
Seminoma of mediastinum
Growth Hormone Producing adenoma of the Pituitary
Somatotroph adenoma
growth hormone secreting adenoma of pituitary
growth hormone secreting pituitary adenoma
malignant Somatotropinoma
malignant growth hormone secreting neoplasm of pituitary
Papillary adenoma of the kidney
A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation.
Complement deficiency disease
A dendritic cell sarcoma cancer that effects the follicular dendritic cells.
Follicular Dendritic cell sarcoma
Follicular dendritic cell tumour
A breast adenocarcinoma that is characterized by the clinical appearance of inflammation, with edema and redness of the breast due to pathologic plugging of the dermal lymphatics of the breast with tumor emboli.
Inflammatory carcinoma of breast
Mastitis carcinomatosa
A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems.
SCID
combined T and B cell inborn immunodeficiency
carcinoma of Cardia of stomach
adenocarcinoma of Cardia of stomach
adenocarcinoma of gastric cardia
malignant Thyrotropinoma
malignant thyroid stimulating hormone producing neoplasm of pituitary gland
TSH Secreting adenoma of the Pituitary
TSH Secreting tumor of Pituitary
TSH Secreting tumour of Pituitary
TSH producing pituitary tumour
Thyrotroph adenoma
malignant Corticotropinoma of the Pituitary
malignant ACTH producing neoplasm of pituitary gland
An ovarian mucinous neoplasm that is cancerous and that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.
ovarian mucinous adenocarcinofibroma
A primary immunodeficiency disease characterized by impaired T cell-mediated immunity and impaired B cell mediated humoral immunity.
Congenital Combined Immunodeficiency
combined immunodeficiency
combined T cell and B cell immunodeficiency
A heart lipoma that is located_in the epicardium and derives_from fat cells.
Lipoma of Epicardium
Lipoma of Heart
pediatric astrocytoma of Cerebellum
childhood cerebellar astrocytic neoplasm
Lipoma of the Cerebral Hemisphere
A central nervous system benign neoplasm that derives_from fat cells.
Lipoma of the CNS
Lipoma of the Corpus Callosum
A disease that has_material_basis_in genetic variations in the human genome.
A syndrome that is is characterized by chronic widespread musculoskeletal pain, fatigue, sleep disturbances, cognitive dysfunction and depression.
A chordoma of skull base that is located in the clivus.
Chordoma of Clivus
A chondroid chordoma and chordoma of the clivus that is located_in the clivus.
Chondroid Chordoma of the Clivus
A mature teratoma of the ovary that resembles a malformed human fetus with the caudal portion being more developed.
A mature teratoma of the ovary that is predominantly solid with interspersed cysts.
A Bartholin's gland carcinoma that derives_from epithelial cells originating in glandular tissue.
Bartholin gland adenocarcinoma
adenocarcinoma of the Bartholin's gland
adenocarcinoma of bartholin's gland
An adamantinoma of long bone that is located_in the tibia.
Tibial adamantinoma morphology
A myopathy characterized by muscle inflammation.
Inflammatory disorder of muscle
A malignant ovarian germ cell neoplasm that is a teratoma containing variable amounts of immature (typically primitive/embryonal neuroectodermal) tissues, including, in its most primitive forms, embryoid bodies.
malignant teratoma of Ovary
adult malignant intracranial hemangiopericytoma
adult intracranial malignant hemangiopericytoma
Bilateral meningioma of the optic nerve
meningioma of the Cerebellar Pontine Angle
A vulva adenocarcinoma that has_material_basis_in eccrine glands.
melanotic psammomatous malignant peripheral nerve sheath tumor
Melanotic malignant nerve sheath tumor
Melanotic malignant peripheral nerve sheath tumor
Melanotic malignant peripheral nerve sheath tumour
melanocytic MPNST
malignant melanocytic neoplasm of the peripheral nerve sheath
A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.
AIDS
acquired Immune deficiency
acquired immune deficiency syndrome
A chronic lymphocytic leukemia that is characterized by the presence of immature lymphocytes in the blood and bone marrow and/or in the lymph nodes.
B-cell lymphocytic leukemia/small lymphocytic lymphoma
CLL/SLL
chronic lymphocytic leukemia/small lymphocytic lymphoma
A demyelination disease that is characterized by severe damage to the myelin sheath of the pons' nerve cells and has_symptom acute paralysis, has_symptom dysphagia, and has_symptom dysarthria.
osmotic demyelination syndrome
A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing.
migraine disorder
migraine variant
migraine with or without aura
A skin melanoma that is characterized by slow growth of a small pigmented spot on the skin with a clearly defined edge, surrounded by normal-appearing skin and occurs on occurs on non hair-bairing surfaces including hands and feet, subungual sites, and fingers or toes.
acral lentiginous melanoma, malignant
malignant acral lentiginous melanoma
Osteosarcoma of Liver
hypersplenia
A central nervous system melanocytic neoplasm that is characterized as diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges.
Diffuse Melanosis
Diffuse melanocytosis
meningioma of the Anterior Foramen Magnum
pediatric glioma of the Brainstem
An encephalomyelitis characterized by inflammation located in brain and located in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection.
ADEM
acute disseminated encephalitis
Encephalitis &/or myelitis
An ovarian cystadenoma that is characterized by the presence of finger-like projections.
Dextrotransposition of aorta
Double outlet right ventricle with subpulmonary ventricular septal defect
Taussig-Bing syndrome or defect
An ovarian papillary neoplasm that is an exophytic growth with bland, serous-type epitheliumon the surface of the ovary.
An ovarian carcinoma that has_material_basis_in abnormally proliferating cells and derives_from epithelial cells.
serous Surface Papillary carcinoma of Ovary
Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle
childhood central nervous system mature teratoma
carcinoma of the eyelid
A cervix carcinoma that has_material_basis_in epithelium and is characterized by the presence of small, well differentiated, rounded nests of basaloid cells.
A viral infectious disease that involves reactivation of JC polyomavirus in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma.
PML
The existing disease ontology entity 'progressive multifocal leukoencephalopathy' is considered to be a subclass of 'brain white matter disease' in addition to 'viral infectious disease', in the context of the NND.
progressive multifocal leukoencephalopathy
A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.
malignant melanoma of choroid
melanoma of the Choroid
ovarian endometrioid malignant adenofibroma
A vulva adenocarcinoma that has_material_basis_in apocrine glands.
Fibrosarcoma of the CNS
A PTEN hamartoma tumor syndrome that is characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium.
Cowden disease
Lhermitte-Duclos disease
dysplastic Gangliocytoma of Cerebellum
multiple hamartoma syndrome
A cerebellum cancer that is characterized by consistent neuronal, variable astrocytic and focal lipomatous differentiation.
Lipomatous Medulloblastoma
Lipoma of rectum
An encephalitis that involves inflammation of the brain caused by viral infection.
epidemic encephalitis
An intestinal benign neoplasm that derives_from fat cells and that is located_in the large intestine.
Lipoma of large Intestine
A cystadenofibroma that is characterized by the presence of mucin.
An ovarian benign neoplasm that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.
pediatric testicular Teratocarcinoma
clear cell variant infiltrating bladder urothelial carcinoma
Invasive bladder Urothelial carcinoma
invasive bladder transitional cell carcinoma
kuru encephalopathy
urinary bladder Signet Ring adenocarcinoma
signet ring cell adenocarcinoma of bladder
acinar adenocarcinoma of the lung
A male reproductive organ benign neoplasm that derives from epithelial tissue in which tumor cells form glands or glandlike structures and that is located_in the rete testis.
melanocytic Schwannoma of mediastinum
periosteal osteosarcoma
A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins.
Prion disease pathway
Prion protein disease
Spongiform Encephalopathy
prion induced disorder
transmissible spongiform encephalopathy
A breast hemangioma that is characterized by capillary-sized vessels.
Capillary Angioma of breast
A breast hemangioma that is characterized by islands and cords on hyalinized and myxoid ground substance as well as intracytoplasmic vacuoles that contain typical erythrocytes and are characterized by fusiform or round nucleated cells.
breast Histiocytoid hemangioma
A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage.
connective tissue disorder
disorder of connective tissue
Hemangioblastoma of Cerebellum
A brain stem cancer that is characterized by slow growing, highly vascular tumors that develops from the vascular system, has_material_basis_in abnormally proliferating cells derives_from endothelial cells, pericytes and stromal cells.
Hemangioblastoma of Brainstem
A benign vaginal carcinosarcoma that has_material_basis_in epithelial cells of the remnants of the vestibular gland and is located_in vagina.
Occult squamous cell carcinoma of the lung
occult squamous cell carcinoma of lung
An ovarian endodermal sinus tumor that is characterized by a glandular pattern on histology.
glandular pattern ovarian yolk sac tumor
An ovarian endodermal sinus tumor that is characterized by a hepatoid pattern on histology, which involves large polyhedral cells with hyaline bodies but no bile.
An ovarian endodermal sinus tumor that is characterized by a polyvesicular vitelline pattern, which involves vesicular structures with eccentric constrictions surrounded by a dense spindle cell stroma.
polyvesicular vitelline pattern ovarian yolk sac tumor
meningioma of the Clivus
A Bartholin's gland benign neoplasm that has_material_basis_in gland and muscle components.
Bartholin gland adenomyoma
malignant melanoma of ciliary body
melanoma of the Ciliary body
An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism.
inborn errors of purine-pyrimidine metabolism
A thymoma type B that is characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli.
Polygonal cell Thymoma
Thymoma, cortical
A mature B-cell neoplasm that is composed of plasma cells.
Plasma cell dyscrasia
Plasma cell tumour
Plasmacytic tumor
A nutrition disease that is characterized by an excess of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content.
A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring.
Acne varioliformis
acne vulgaris
frontalis acne
Lymphoma of Heart
A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
Inborn Errors of Metabolism
Metabolic hereditary disorder
inborn metabolism disorder
small cell carcinoma of stomach
meningioma of the Posterior Foramen Magnum
An ovarian cancer that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.
ovarian clear cell adenocarcinofibroma
ovarian clear cell malignant adenofibroma
Schneiderian papilloma of the ethmoid sinus
An endocrine organ benign neoplasm that is a benign tumor of the glandular type (adenoma) in the adrenal gland.
adenoma of the Adrenal gland
Inverted papilloma of the ethmoid sinus
Schwannoma of Pleura
medium/large size posterior uveal melanoma
small size posterior uveal melanoma
A uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels.
A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures.
acinar cell adenoma
acinic cell adenoma
adenomas
non-invasive bladder urothelial carcinoma
pediatric visual pathway astrocytoma
glioma of the pediatric visual pathway
A bone cancer and malignant neoplasm of chest wall that is located_in the chest wall.
malignant bone tumor of the Chest Wall
malignant bone neoplasm of chest wall
A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm, large round nuclei and sharp cell borders.
apocrine carcinoma of breast
A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm due to large numbers of mitochondria.
A breast adenocarcinoma that is characterized as a well-differentiated invasive carcinoma with regular cells arranged in well-defined tubules (typically one layer thick) surrounded by an abundant fibrohyaline stroma.
Invasive tubular carcinoma of breast
tubular carcinoma of breast
tubular adenocarcinoma of stomach
A muscular disease located in the muscle tissue.
Adrenal cortical tumors
malignant Adrenocortical tumor
malignant neoplasm of adrenal cortex
malignant tumour of adrenal cortex
neoplasm of adrenal cortex
Kummell disease
Kummell's spondylitis
Traumatic spondylopathy
classic variant of chromophobe renal cell carcinoma
eosinophilic variant of chromophobe renal cell carcinoma
Hibernoma of nervous system
bone hemangioma
hemangioma of bone
osseous epithelioid hemangioma
osseous hemangioma
A combined T cell and B cell immunodeficiency that is characterized by defects affecting how white blood cells respond and travel to the site of a wound or infection affecting the immune system.
Congenital leukocyte adherence deficiency
A vaginal adenoma that is a polyp that resembles colorectal villous adenoma.
A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene (300386) on chromosome Xq26.
hyperimmunoglobulin M syndrome
A brain angioma that is characterized by vascular abnormalities that develops from cranial and spinal blood vasculature, has_material_basis_in abnormally proliferating cells, derives_from endothelial cells in and about the vascular lumen.
hemangioma of Cerebrum
A cervical mucinous adenocarcinoma that is well differentiated, consisting of an endocervical glandular hyperplasia of lobular architecture resembling glands but with the characteristics of adenocarcinoma.
A breast carcinoma that is located_in the nipple.
hemangioma of scrotum
A choriocarcinoma that is located in the central nervous system of an adult.
Choriocarcinoma of the adult central nervous system
adult central nervous system choriocarcinoma
A choriocarcinoma characterized by extraembryonic differentiation along trophoblastic lines and high serum and CSF levels of HCG/_-HCG, has_material_basis_in abnormally proliferating cells, derives_from germ cells.
Choriocarcinoma of the paediatric central nervous system
Choriocarcinoma of the pediatric central nervous system
paediatric CNS choriocarcinoma
Fordyce angiokeratoma
Fordyce's spot
Fordyce-type Angiokeratoma of scrotum
A breast benign neoplasm that is characterized by a discrete, muticystic breast lesion that occurs at a median age of 20 years.
Juvenile papillomatosis of the breast
Baastrup syndrome
Kissing spine
A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine.
Ankylosing vertebral hyperostosis
DISH
Disseminated idiopathic skeletal hyperostosis
Forestier disease
diffuse idiopathic skeletal hyperostosis
childhood central nervous system immature teratoma
A breast carcinoma that is characterized by large cell size, polygonal shape, low nuclear-cytoplasmic ratio, finely granular eosinophilic cytoplasm, occasionally prominent nucleoli, peripheral palisading, mitosis, and necrosis and in which greater than 50% of the tumor cells are positive for neuroendocrine markers (NSE, chromogranin A, synaptophysin).
breast large cell neuroendocrine carcinoma
pulmonary large cell neuroendocrine carcinoma
A cervix carcinoma that has_material_basis_in neuroendocrine tissue and is characerized by a diffuse, organoid, trabecular, or cord-like pattern of neoplastic cells with abundant cytoplasm, large nuclei, prominent nucleoli, and a high mitotic rate.
cervical large cell neuroendocrine carcinoma
A hypothalamic disease that is characterized by endocrine dysfunction of the hypothalamic gland resulting in delayed puberty, small testes, and obesity.
Babinski-Froelich syndrome
Froehlich syndrome
Froehlich's syndrome
Froelich's syndrome
adiposogenital syndrome
A syndrome that occurs in human immunodeficiency virus (HIV) positive patients, which is accompanied by decreased kidney function. The spectrum of kidney involvement includes acute or chronic kidney disease, primarily tubular proteinuria and dense lymphocytic tubulointerstitial infiltrates predominantly composed of CD8 T cells.
diffuse infiltrative lymphocytosis syndrome
A syndrome that affects the teeth, nails, hair, and/or skin. It is characterized by absence (hypodontia) and/or malformation of certain primary (deciduous) and secondary (permanent) teeth occurring in association with improper development of the nails, particularly the toenails.
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
Witkop's syndrome
A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles.
Myisitis ossificans
Ossification - muscle
A delusional disorder in which a person holds a delusion that a friend, spouse, parent, or other close family member has been replaced by an identical-looking impostor.
Capgras delusion theory
A bone structure disease that has_material_basis_in displacement located_in set of vertebrae.
A syndromic X-linked intellectual disability affects a person's height, muscles, skeleton, genitals, and appearance of the face.
Aarskog-Scott syndrome
Greig's syndrome
faciogenital dysplasia
A syndrome that involves arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet.
Paroxysmal hematoma of the finger
A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen.
ALPS
Canale-Smith syndrome
A syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts.
Cholestasis-edema syndrome, Norwegian type
A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers.
Cervicocranial syndrome
Posterior cervical sympathetic syndrome
A choriocarcinoma of the testis that is characterized by a composition of only cytotrophoblasts and absent syncytiotrophoblastic giant cells.
synchronous multifocal osteogenic sarcoma
asynchronous multifocal osteogenic sarcoma
A substance abuse that involves the recurring use of amphetamines despite negative consequences.
cancer of Fundus of stomach
carcinoma of fundus of stomach
carcinoma of Pylorus of stomach
cancer of body of stomach
carcinoma of body of stomach
MPNST with Rhabdomyosarcoma
MPNST with rhabdomyoblastic differentiation
malignant Triton tumour
malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma
A syndrome that is characterized by loss of function of the anterior two-thirds of the spinal cord that results from ischemia of the anterior spinal artery.
Anterior spinal artery occlusion syndrome
An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.
CVA
cerebrovascular disorder
stroke
A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen.
Splenic neoplasm
malignant Splenic tumor
malignant tumour of spleen
spleen neoplasm
A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Littre glands.
Thymoma, mixed type, malignant
A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord.
Spinal stenosis of lumbar region
cervical spinal stenosis
lumbar spinal stenosis
A malignant astrocytoma that is characterized as a low grade astrocytoma and has_material_basis_in neoplastic astrocytes.
Fibrillary Astrocytic tumors
Colonic small cell carcinoma
A bile duct cystadenoma located_in an intrahepatic bile duct.
Cystadenoma of the Intrahepatic bile duct
Neurilemmoma of Jugular Foramen
An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate.
Palatoschisis
small cell carcinoma of the Cervix Uteri
small cell carcinoma of the cervix
A breast carcinoma that is characterized by an individual having breast cancer in both breasts, either simultaneously or at different times.
Bilateral breast carcinoma
An auditory system benign neoplasm that derives_from adipose tissue and is located_in the internal auditory canal.
Lipoma of the Internal Auditory canal
Amyloid neoplasm
amyloid tumour
A thoracic cancer that is located_in the chest wall.
Lymphoma of the Chest Wall
chest wall cancer
lymphoma of chest wall
malignant neoplasm of chest wall
malignant tumor of Chest Wall
A bone cancer and lymphoma by site that results_in lymphoma starting in the bone.
Lymphoma of the bone
lymphoma of bone
A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.
Pauciarticular onset juvenile chronic arthritis
acute juvenile rheumatoid arthritis
juvenile chronic polyarthritis
juvenile idiopathic arthritis
monarticular juvenile rheumatoid arthritis
pauciarticular juvenile arthritis
systemic juvenile rheumatoid arthritis
lymphoma of lung
pulmonary Lymphoma
Lymphoma of Sternum
lymphoma of the sternum
An ovarian primitive germ cell tumor that is dominantly composed of embryoid bodies.
A breast carcinome that is composed entirely or almost entirely of malignant spindle cells with myoepithelial differentiation.
An endometrial adenocarcinoma that is characterized by papillary differentiation.
villoglandular endometrial endometrioid adenocarcinoma
A movement disease that is characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain.
Steele-Richardson-Olszewski syndrome
progressive supranuclear ophthalmoplegia
A sarcoma that is characterized by a recurrent chromosomal translocation t(11;22)(p13;q12) and the presence of small round cells in a desmoplastic stroma. It usually affects children and young adults. The most common site of involvement is the abdomen. Patients usually present with abdominal distention, pain, ascites, and a palpable abdominal mass.
desmoplastic small round-cell neoplasm
A botryoid rhabdomyosarcoma that presents in childhood.
childhood sarcoma Botryoides
A vagina botryoid rhabdomyosarcoma that presents in childhood.
vaginal childhood sarcoma Botryoides
childhood vagina botryoid rhabdomyosarcoma
A botryoid rhabdomyosarcoma that is located_in the vagina.
childhood sarcoma Botryoides of the Vulva
vulvar childhood botryoid-type embryonal rhabdomyosarcoma
A brain disease that is characterized by dysfunctional movement, located_in basal ganglia that has_material_basis_in diseased components of the basal ganglia and associated neural circuits.
A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain.
A sarcoma of colon that is located_in the colon.
Colonic Kaposi's sarcoma
A pilocytic astrocytoma that occurs during adolescence.
A pilocytic astrocytoma that occurs during childhood.
pediatric Pilocytic astrocytoma
Compartmental syndrome
A pancreatic carcinoma that is characterized by its papillary architecture.
pancreatic solid pseudopapillary carcinoma
peripheral motor neuropathy
A rete ovarii benign neoplasm that derives_from glandular epithelial cells.
A rete ovarii benign neoplasm that is derives_from epithelial and stromal cells.
An intraductal breast benign neoplasm that is characterized by an increase in the number of cells perpendicular to the basement membrane resulting in total alteration and distension of the normal unit structure of the breast. It is confined to the duct-lobular system, originates from the terminal duct-lobular unit and displays different cytological and architectural patterns of proliferation.
Intraductal Proliferative Lesion
A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.
Hepatoma
A breast intraductal proliferative lesion that is characterized by columnar cell changes with cytologic atypia.
sarcomatoid transitional cell carcinoma of renal Pelvis
kidney pelvis sarcomatoid transitional cell carcinoma
infiltrating ureter transitional cell carcinoma
A botryoid rhabdomyosarcoma that is present in an adult.
A vagina botryoid rhabdomyosarcoma that presents in adulthood.
primary Ectopic meningioma of ethmoidal sinus
teratoma of Pineal Area
A mature teratoma that is located_in the pineal region.
Mature teratoma of the Pineal Area
Atypical Pineal teratoma
A liver cancer that has_material_basis_in epithelial cells.
Liver and Intrahepatic bile duct carcinoma
An endometrial adenocarcinoma that is composed predominantly or entirely of large eosinophilic cells.
oxyphilic endometrial endometrioid adenocarcinoma
Lymphoma of mediastinum
neuroblastoma of the Spinal Cord
Spinal Cord PNET
spinal cord primitive neuroectodermal neoplasm
A reactive cutaneous fibrous lesion that is characterized by a small, painless, flesh colored peduncle arising on the surface of the skin, and develops_from areas of friction, or may be associated with HPV virus, or Crohn's disease.
Fibroepithelial polyp
Fibroepithelial polyp of skin
cutaneous tag
soft fibroma
A germ cell cancer that is associated with an embryo.
embryo neoplasm
embryonal neoplasm
A fibrosarcoma of soft tissue and small intestinal sarcoma that is located_in the small bowel.
Fibrosarcoma, small Intestine
ureteral small cell carcinoma
transitional cell carcinoma of ureter
ureteral Urothelial cell carcinoma
An ovarian carcinoma that is biphasic and has_material_basis_in epithelial and mesenchymal elements.
mixed epithelial carcinoma of Ovary
ovary mixed epithelial carcinoma
A lymphoma by site that is manifested in immune system cells called lymphocytes.
A benign perivascular tumor that is characterized as a vascular variant of a glomus tumor.
Lymphocyte-Predominant Thymoma
Thymoma, organoid
Peroneal nerve palsy
enamel hypoplasia
papillary extrahepatic bile duct adenocarcinoma
Urothelial papilloma
bladder papilloma
transitional cell papilloma of bladder
urinary bladder Urothelial papilloma
Inverted papilloma of the urethra
ureteral Inverted papilloma
An intraocular retinoblastoma that effects children.
A brain meningioma of childhood that is characterized by brain tumor which develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin.
pediatric meningioma of brain
An inverted follicular keratosis that is located_in the vulva.
Seborrheic Keratosis of Vulva
Inverted folicular keratosis
neoplasm of sphenoidal sinus
tumor of Sphenoidal sinus
A malignant teratoma that has_material_basis_in gastric tissue.
malignant teratoma of stomach
An acute stress disorder that involves neurotic reactions to unusual, severe, or overwhelming military stress.
Combat Neurosis
Telangiectatic osteosarcoma
An aleukemic leukemia cutis that is characterized by infiltration of the skin by neoplastic monocytes.
transitional Zone carcinoma of rectum
A Bartholin's gland carcinoma that derives_from squamous epithelial cells.
Bartholin gland squamous cell carcinoma
Bartholin's gland squamous cell carcinoma
An acute inflammation of lacrimal passage that is characterized by inflammation of the lacrimal caniculi, has_symptom epiphora, has_symptom conjunctivitis, has_symptom eyelid mattering and has_symptom purulent discharge.
acute canaliculitis, lacrimal
acute lacrimal canaliculitis
urothelial papillary carcinoma of the bladder
micropapillary variant infiltrating bladder urothelial carcinoma
Excessive vasoactive intestinal peptide secretion
Verner-Morrison syndrome
pancreatic WDHA syndrome
Sensitive dentin
A myopathy that is characterized by mitochondrial dysfunction.
mitochondrial cytopathy
mixed cell type Uveal melanoma
malignant melanoma of iris
melanoma of the Iris
mixed cell melanoma of Choroid
intermediate cell type ciliary body melanoma
Colloidal carcinoma of the gallbladder
A disease that manifests in a defined anatomical structure.
An inherited metabolic disorder that involves mitochondrial metabolism dysfunction.
A functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome.
ACTH-Producing Pituitary Adenoma
Corticotroph adenoma
Corticotropinoma
Gemistocytic Astrocytic tumor
pediatric astrocytoma of Cerebrum
Protoplasmic Astrocytic tumor
A teeth hard tissue disease characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology.
Dentinal dysplasia
An ovarian mucinous adenofibroma that is characterized by the presence of cysts or cystic spaces.
intramuscular lipoma
A synovium neoplasm that is located_in the tendon sheath.
Lipoma of the Tendon Sheath
mucinous intrahepatic cholangiocarcinoma
adenoma of the Bronchial Mucus gland
adenoma of bronchial mucus gland
A squamous cell carcinoma that is located_in the glottis.
Epidermoid carcinoma of the Glottis
squamous cell carcinoma of glottis
A clear cell adenocarcinoma that is located_in the bile duct.
bile duct clear cell carcinoma
A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung.
Infection by Anisakis larva
An immature teratoma of overy that presents in childhood.
pediatric Immature teratoma of Ovary
Bowen's disease, clonal
Intraepidermal Epithelioma of Jadassohn
Borst-Jadassohn intraepidermal carcinoma
Choroidal epithelioid cell melanoma
A cervical squamous cell carcinoma that is characterized by nests of immature, basal-type squamous cells with scanty cytoplasm.
cervical basaloid squamous cell carcinoma
squamous cell carcinoma of penis, Basaloid type
A vulva squamous cell carcinoma that is composed of nests of immature, basal-type squamous cells with scanty cytoplasm.
vulvar basaloid carcinoma
skin Basaloid squamous cell carcinoma
Leber's hereditary optic neuropathy
Leber's optic atrophy
Basaloid carcinoma of the Thymus
Basaloid squamous carcinoma of esophagus
esophageal basaloid squamous cell carcinoma
mature B-cell lymphocytic neoplasm
A non-Hodgkin lymphoma that has_material_basis_in B cells.
B-cell lymphocytic neoplasm
A dermoid cyst that is located_in the spinal cord.
Spinal Cord Dermoid
A lipid-rich carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells.
mediastinal melanocytic MPNST
malignant melanocytic peripheral nerve sheath tumor of mediastinum
A cystic teratoma that is present in an adult.
combined small and large cell lung cancer
small cell and large cell carcinoma of the lung
small cell and squamous cell carcinoma of the lung
mixed small cell and squamous cell carcinoma of lung
lung mixed small cell and squamous cell carcinoma
multicentric papillary thyroid carcinoma
columnar cell variant papillary carcinoma
hairy cell leukaemia of spleen
hairy cell leukemia of spleen
splenic manifestation of hairy cell leukaemia
splenic manifestation of hairy cell leukemia
macrocystic pattern testicular yolk sac tumor
A leukemia that is located_in the spleen. It results_in an enlargement of the leukemia.
splenic leukemia
meningioma of Diaphragm Sellae
Epiglottic tumor
neoplasm of epiglottis
A refractory hematologic cancer that is a mature B cell cancer that does not yield readily to treatment.
A hematologic cancer that is located in the blood or bone marrow that doesn't respond to treatment.
Irradiation cystitis
Hairy cell leukaemia variant
Hairy cell leukemia variant
small cell/neuroendocrine carcinoma of urinary bladder
small cell neuroendocrine carcinoma of the urinary bladder
urinary bladder small cell neuroendocrine carcinoma
Oat cell carcinoma of the gallbladder
Oat cell carcinoma of esophagus
Oat cell carcinoma of oesophagus
oesophagus small cell carcinoma
ampullary small cell carcinoma
A cysititis that is characterized by hyperplasia of bladder submucosa and cyst formation caused by chronic irritation of the bladder.
An small cell carcinoma that has_material_basis_in small cells and located_in the endometrium.
A small cell carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells and located_in Bartholin's gland.
Bartholin gland small cell carcinoma
prostate Oat cell carcinoma
small cell carcinoma of prostate
small cell carcinoma of the Thymus
small cell carcinoma of Larynx
A histiocytic and dendritic cell cancer that derives from the lymph nodes, derives from the skin, derives from the liver, derives from the spleen and derives from bones.
A bone inflammation disease that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.
Bekhterev syndrome
Bekhterev's disease
Marie-Strumpell disease
An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.
Arthritis or polyarthritis, rheumatic
atrophic Arthritis
A stromal sarcoma and sarcoma of prostate and tumor of specialized prostatic stroma that is located_in the prostate.
Stromal sarcoma of the prostate
An oligodendroglioma that is characterized by focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity).
leiomyoma of rectum
De Quervain's thyroiditis
Giant-cell thyroiditis
Granulomatous thyroiditis
Subacute Granulomatous Thyroiditis
Updating to more specific UMLS_CUI from C0029495 to C0040147.
Occult adenocarcinoma of the lung
occult adenocarcinoma of lung
Occult large cell carcinoma of the lung
Cloacogenic anal carcinoma
anal Basaloid carcinoma
basaloid carcinoma of the anus
anal Giant (malignant) Condyloma
An anal canal cancer that derives_from epithelial squamous cells.
mixed acidophil-basophil adenoma
An autoimmune disease of blood that is characterized by deficient red blood cells caused by auto-antibodies.
Autoimmune haemolytic anaemia
autoimmune hemolytic anaemia
benign Schwannoma of the skin
An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues.
Chronic Lymphocytic Thyroiditis
Hashimoto thyroiditis
Hashimoto's Disease
Hashimoto's syndrome
Hashimoto's thyroiditis
Lymphocytic Thyroiditis
An ovarian cystadenoma that is characterized by the presence of endometrial tissue.
hereditary conventional renal cell carcinoma
adenoid cystic carcinoma of the maxillary sinus
adenoid cystic carcinoma of maxillary sinus
maxillary sinus adenoid cystic carcinoma
ANEMIA NORMOCYTIC
A malignant teratoma characterized by the presence of an intermediate amount of undifferentiated tissues.
Intermediate Immature teratoma
malignant teratoma, intermediate
pulmonary Combined large cell neuroendocrine carcinoma
combined large cell neuroendocrine carcinoma of lung
lung combined large cell neuroendocrine carcinoma
Fibroblastic meningioma
Meningotheliomatous meningioma
transitional (mixed) meningioma
Thymoma malignant Noninvasive
A papillary carcioma that is located_in the gallbladder.
Papillary carcinoma of the gallbladder
Pleomorphic Giant cell adenocarcinoma of the gallbladder
gallbladder pleomorphic giant cell adenocarcinoma
A breast fibroadenoma that is larger than 5 cm.
Giant Fibroadenoma
Giant fibroadenoma of breast
malignant neoplasm of spinal meninges
CLL/SLL with IGVH SHM
postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma
A central nervous system childhood germ cell tumor characterized by germ cell tumor that develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells.
Embryonal carcinoma of paediatric CNS
Embryonal carcinoma of pediatric CNS
paediatric CNS embryonal cell carcinoma
Embryonal carcinoma of CNS
embryonal carcinoma of the central nervous system
central nervous system embryonal carcinoma
A central nervous system adult germ cell tumor that develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, has_material_basis_in abnormally proliferating cells derives_from germ cells.
Embryonal carcinoma of the adult central nervous system
adult central nervous system embryonal carcinoma
A pancreatic cystadenocarinoma that is characterized by histological characteristics of columnar, mucin-producing epithelium associated with ovarian-type subepithelial stroma, which does not communicate with the pancreatic ductal system, most frequently localized to the body or tail of the pancreas.
Pancreatic Mucinous Cystadenocarcinoma
pancreatic mucinous cystic neoplasm
pancreatic invasive mucinous cystadenocarcinoma
pancreatic non-invasive mucinous cystadenocarcinoma
Stress incontinence - female
female urinary stress incontinence
An uterine corpus cellular leiomyoma that is characterized by stellate zones of recent hemorrhage within nodules of hypercellular smooth muscle.
An uterine benign neoplasm that derives_from smooth muscle cells and that is located_in the uterine corpus.
lymphoepithelioma-like variant acinar prostate adenocarcinoma
lymphoepithelioma-like acinar prostate adenocarcinoma
A selective immunoglobulin deficiency disease that is characterized by low serum levels of IgD immunoglobulins, but is associated with few clinical symptoms.
Selective IgD Immunodeficiency
Selective immunoglobulin D deficiency
A scleral disease that is characterized by painful inflammation with surface nodule formation of the episcleral tissues that, importantly, spares the sclera itself and has_symptom pain, red eyes, photophobia, tearing, blurry vision, and appearance of eye surface irregularity. Nodular episcleritis is typically self-limited and may be caused by vascular congestion within the superficial episcleral plexus.
Congenital Epulides
A uterine body mixed cancer that derives_from epithelial cells which originate in glandular tissue and connective tissue.
carcinoma of the paraurethral gland
paraurethral gland carcinoma
An endometrial adenocarcinoma that is characterized by the presence of confluent, cribriform or villoglandular voluminous glands with glycogen, subnuclear vacuoles (resembles day 17 - 22 endometrium), plus late secretory pattern in uninvolved endometrium.
secretory uterine corpus endometrioid adenocarcinoma
endometrial endometrioid adenocarcinoma, secretory variant
An endometrial adenocarcinoma that is characterized by the presence of abundant mucin.
mucin-rich endometrial endometrioid adenocarcinoma
pediatric extraskeletal Osteosarcoma
neoplasm of urethra
neoplasm. urethra
endodermal sinus pattern testicular yolk sac tumor
A malignant astrocytoma that is characterized by tumor cells with characteristics suggestive of an astrocytic origin (positive for GFAP), arranged perivascularly.
An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra.
neoplasm of urinary system
tumor of the urinary system
tumor of urinary tract
urinary tract neoplasm
stage IVB urinary bladder carcinoma
Jewett-Marshall stage D1 bladder cancer
Jewett-Marshall stage D2 bladder cancer
A urinary system disease that is located_in the urethra.
urethra disease
An ovarian serous adenofibroma that is characterized by the presence of cysts or cystic spaces.
Fasciitis - nodular
Pseudosarcomatous Fasciitis
nodular fasciitis
A malignant melanoma of iris and spindle cell intraocular melanoma that is located_in the iris.
A gastrointestinal tuberculosis that involves formation of tuberculous ulcers located_in esophagus. The infection has_symptom dysphagia, has_symptom cough, has_symptom chest pain, has_symptom fever and has_symptom weight loss.
tuberculosis of esophagus
Nephrogenic adenoma of the urinary bladder
An urinary tract cancer that derives_from the tissues of the urethra.
malignant tumour of urethra
malignant urethral neoplasm
urethral Ca
cancer of urethra
A childhood ovarian germ cell tumor that derives_from cells that give rise to egg cells.
An ovarian disease that is characterized by the presence of nests of luteinized theca cells scattered throughout the ovary, which results in severe hyperandrogenism and insulin resistance. Clinical symptoms involve slowly progressive acne, hirsutism, virilization.
sarcomatoid carcinoma of rectum
A vulva squamous cell carcinoma that is characterized by keratin pearls, abundant keratohyaline granules or dense cytoplasmic keratinization.
vulvar keratinizing squamous cell carcinoma
Kimura's disease
A carcinoma of bladder that originates in the epithelial cells (the internal lining) of the bladder wall and is limited to this area.
Superficial urinary bladder carcinoma
An adrenal medulla cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Parakeratotic skin papilloma
A leiomyosarcoma that is located_in the pulmonary vein.
leiomyosarcoma of the pulmonary Vein
A leiomyosarcoma that is located_in the pulmonary artery.
leiomyosarcoma of the pulmonary artery
A leiomyosarcoma that is located_in the superior vena cava.
leiomyosarcoma of the Superior Vena Cava
PNET of Cerebrum
cerebral primitive neuroectodermal tumor
A disease of anatomical entity that has_material_basis_in hematopoietic cells.
Blood disease
Blood dyscrasia
DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS
Hematological disease
blood disorder
disease of haematopoietic system
disease of hematopoietic system
haematopoietic system disease
A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3.
Berlin breakage syndrome
Microcephaly, normal intelligence and immunodeficiency
NBS
Seemanova syndrome II
Seemanova syndrome type 2
ataxia-telangiectasia variant
immunodeficiency-microcephaly-chromosomal instability syndrome
microcephaly-immunodeficiency-lymphoreticuloma syndrome
colonic L-cell glucagon-like peptide producing tumor
L-cell glucagon-like peptide producing tumor
A vulva squamous cell carcinoma that is rapidly growing, self-limited, and characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor. It is considered a variant of well-differentiated squamous cell carcinoma with distinct clinical behavior.
NCI retired concept, vulvar keratoacanthoma-like carcinoma.
A vulva squamous cell carcinoma that is composed of polygonal squamous cells growing in sheets or nests that may have intercellular bridges, but keratin pearls are not present.
vulvar non-keratinizing squamous cell carcinoma
An ovarian endometrioid adenofibroma that is characterized by the presence of cysts and/ or cystic spaces.
An anthrax disease that results_in infection located_in skin, has_material_basis_in Bacillus anthracis, which is transmitted_by contact with infected animals or animal products. The infection has_symptom skin lesion that eventually forms an ulcer with a black center.
A primary bacterial infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_material_basis_in Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath.
A brain germinoma that is characterized by tumor of the germ cell in childhood that has_material_basis_in abnormally proliferating cells derives_from germ cells, located_in pineal area and located_in suprasellar area.
germinoma of the pediatric brain
A physical urticaria induced by stroking of the skin.
dermatographic urticaria
dermographism
A central nervous system childhood germ cell tumor that is characterized by germ cell tumor, that develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells.
childhood germ cell brain tumour
germ cell neoplasm of the paediatric brain
germ cell neoplasm of the pediatric brain
polyvesicular vitelline pattern testicular yolk sac tumor
An endometrial adenocarcinoma that has_material_basis_in mesenchymal elements.
sarcomatoid uterine corpus endometrioid adenocarcinoma
A perivascular epithelioid cell tumor that is located_in the uterus.
uterine corpus PEComa
uterus perivascular epithelioid cell tumor
An ovarian cystadenocarcinoma that is characterized by the presence of cells with clear cytoplasm.
polyp - middle ear
polyp of the middle ear
A blood protein disease that is characterized by the presence of an abnormal protein called monoclonal protein in the blood.
MGUS
Monoclonal gammopathy of undetermined significance
monoclonal gammopathy of uncertain significance
A male reproductive organ benign neoplasm that is located_in the epididymis.
benign Epididymal epithelial Mesothelioma
adenomatoid neoplasm of the epididymis
A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching.
Oxyuris vermicularis infection
Threadworm infection
Enterobius vermicularis infection
Pinworm infection
oxyuriasis
A breast squamous cell carcinoma that is characterized by lack of cohesiveness of the tumour cells resulting in a pseudovascular or pseudoglandular appearance.
acantholytic variant squamous cell breast carcinoma
adenomatoid tumour
benign localised epithelial Mesothelioma
benign localized epithelial Mesothelioma
A breast squamous cell carcinoma that is characterized by the presence of spindle-shaped malignant cells and arises from the breast parenchyma.
spindle cell variant squamous cell breast carcinoma
A breast squamous cell carcinoma characterized by large epithelial cells that contain keratin.
large cell keratinizing variant squamous cell breast carcinoma
childhood anaplastic Rhabdomyosarcoma
A hypersensitivity reaction type IV disease that is characterized by absolute lymphocytosis of natural killer (CD3- CD16+) cells often with concurrent cytopenia and has_symptom fever, arthralgia, apthous ulcers, vasculitic skin rash, and peripheral neuropathy.
NK-cell large granular Lymphocyte Lymphocytosis
A pleural cancer that has_material_basis_in mesothelium cells.
malignant mesothelioma of pleura
An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall.
duodenal delta cell somatostatin producing tumor
large cell lung carcinoma with Rhabdoid Phenotype
large cell carcinoma with rhabdoid phenotype
meningioma of the Petrous Ridge
A cervical squamous cell carcinoma that is characterized by keratin pearls, abundant keratohyaline granules or dense cytoplasmic keratinization.
cervical keratinizing squamous cell carcinoma
A female urethral cancer located_in the posterior urethra.
Posterior urethral malignant tumor
A bone inflammation disease that involves rupture of the growth plate in children located_in tibia.
Osgood-Schlatter disease
Osteochondritis of tibial tubercle
Osteochondrosis of proximal tibia
juvenile osteochondrosis of tibial tubercle
GI Bleeding
vulvar proximal-type epithelioid sarcoma
A brain glioma that is characterized by tumor of the ependyma, has_material_basis_in abnormally proliferating cells derives_from ependymal cells, located_in spine in adults and located_in intracranial (4th ventricle) in children.
Ependymal tumor of brain
Ependymoma of brain
An immune system disease that is located_in the lymphatic system.
Lymphangiopathy
Lymphatic disease
disease of lympoid system
disorder of lymph node and lymphatics
disorder of lymphatic system
disorder of lymphoid system
lymphatic disorder
lympoid system disease
acute peptic ulcer with hemorrhage
acute peptic ulcer with hemorrhage and perforation
acute peptic ulcer without hemorrhage and without perforation
paediatric Cerebral Ependymoma
paediatric Supratentorial Ependymoblastoma
paediatric supratentorial ependymoma
pediatric Cerebral Ependymoma
pediatric Supratentorial Ependymoblastoma
pediatric supratentorial ependymoma
An extrahepatic bile duct adenoma that is located_in the extrahepatic bile duct.
Papillary adenoma of the extrahepatic bile duct
extrahepatic bile duct papillary adenoma
neoplasm of small intestine
small intestinal neoplasm
small intestinal L-cell glucagon-like peptide producing tumor
A benign breast neoplasm characterized by the presence of multiple intraductal papillomas.
Intraductal papillomatosis of the breast
meningioma of Lumbar Spinal canal and Spinal Cord
lumbar spinal canal and spinal cord meningioma
A central nervous system germ cell tumor of childhood that is characterized by mixed germ cell tumor, develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells.
childhood central nervous system mixed germ cell tumor
female Orgasmic disorder
A cervix carcinoma that is located_in the endocervix.
carcinoma of endocervix
carcinoma of the Endocervix
Peptic ulcer with perforation
Perforated peptic ulcer
acute peptic ulcer with perforation
A breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells around small ducts.
A breast myoepithelial neoplasm that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in or around small ducts.
A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children.
childhood infratentorial ependymoblastoma
pediatric infratentorial ependymoblastoma
childhood infratentorial embryonal tumor with multilayered rosettes, C19MC-altered
An acute endometritis that is caused by gonorrhea.
Gonococcal endometritis
Uterus - acute gonorrhoea
acute gonorrhea of uterus
An endometritis that is characterized by onset within the past 1 - 3 days.
An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal gland.
adenocarcinoma of anal ducts
anal glands adenocarcinoma
adenocarcinoma of anal gland
A breast secretory carcinoma that is characterized by numerous cysts of varying sizes containing gelatinous material on gross examination, microscopically dilated ducts containing eosinophilic secretion and the absence of micropapillary pattern and cytological atypia in the lining epithelium.
cystic hypersecretory duct carcinoma of the breast
cystic hypersecretory carcinoma of the breast
A breast adenoma that is characterized by a prominent fibrotic capsule and a bilayered tubular component.
A breast adenoma that occurs during pregnancy.
Lactating adenoma
An urogenital tuberculosis that is located_in urinary bladder, which results in fibrosis of bladder wall muscles.
Tuberculosis of bladder
Tuberculous cystitis
A breast adenoma that is characterized by apocine differentiation.
A breast metaplastic carcinoma that is characterized by the presence of epithelial and mesenchymal components.
mixed epithelial/mesenchymal metaplastic breast carcinoma
Osteosarcoma Arising in osseous Paget's disease
osteosarcoma arising in bone Paget disease
osteosarcoma arising in bone Paget's disease
Ceruminous adenoma
A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods.
chronic gonococcal infectious disease of lower genitourinary tract
chronic gonococcal infectious disease of upper genitourinary tract
Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant with Heterologous Elements
Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant without Heterologous Elements
infiltrating bladder urothelial carcinoma sarcomatoid variant
A vulva carcinoma that is characterized by heterogenous histology that includes squamous cells, mucinous cells, clear cells, pigmented cells, and spindle cells and derives_from eccrine sweat glands.
Eccrine porocarcinoma of skin
Porocarcinoma
malignant Eccrine Poroma
A vulva carcinoma that derives_from sweat glands and is characterized by the presence of clear cells.
malignant multilocular cystic nephroma
Intraductal Papillary-mucinous carcinoma of pancreas
pancreatic intraductal papillary-colloid carcinoma
A pancreatic cancer that is characterized as a slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts.
pancreatic intraductal papillary-mucinous neoplasm
A breast carcinoma that is characterized by the presence of hard, fibrous, particularly invasive tumors in which the malignant cells occur singly or in small clusters or strands in dense connective tissue.
Infiltrating carcinoma of breast with Fibrotic Stroma
scirrhous carcinoma of breast
A visceral heterotaxy that is characterized by complete right-to-left reversal of the position of the major thoracic and abdominal organs.
Complete transposition
Laterality sequence
situs inversus viscerum
Glottic verrucous carcinoma
verrucous carcinoma of glottis
verrucous carcinoma of Subglottis
verrucous carcinoma of the subglottis
Epidermoid carcinoma of the Subglottis
verrucous carcinoma of Supraglottis
verrucous carcinoma of the supraglottis
Epidermoid carcinoma of the Supraglottis
A choriocarcinoma of the ovary that develops in the presence of a preceding gestational event.
A cervical squamous cell carcinoma that is characterized by poorly defined islands of undifferentiated squamous cells in a background intensely infi ltrated by lymphocytes. The tumour cells have uniform, vesicular nuclei with prominent nucleoli and moderate amounts of slightly eosinophilic cytoplasm. The cell borders are indistinct.
cervical lymphoepithelioma-like carcinoma
Lymphoepithelioma-like carcinoma of the Thymus
A gastrointestinal system disease that is located_in the stomach.
Gastropathy
stomach disorder
gastric disease
infiltrating bladder lymphoepithelioma-like carcinoma
A bone osteosarcoma that is characterized by the presence of osteoid extracellular matrix and that arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation.
Intracortical osteosarcoma
Fibroblastic osteosarcoma
Fibrosarcomatous Osteogenic sarcoma
Chief cell adenoma of Parathyroid gland
A parathyroid gland benign neoplam that is located_in the parathyroid.
adenoma of the Parathyroid gland
adenoma of parathyroid
Clear cell adenoma of the Parathyroid
parathyroid transitional clear cell adenoma
mixed cell type adenoma of the Parathyroid gland
Meningeal sarcomatosis
sarcomatosis of meninges
Meningeal sarcoma
sarcoma of meninges
A sarcoma that results_in the formation of numerous sarcomas or located_in various parts of the body.
An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults.
adult embryonal tumor with multilayered rosettes, C19MC-altered
A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Cowper's gland.
Macular hole
meningioma of Gasserian Ganglion
malignant granular cell skin neoplasm
malignant granular cell skin tumour
malignant granular cell tumor of skin
malignant granular cell tumour of skin
acantholytic squamous cell carcinoma of skin
acantholytic squamous cell skin carcinoma
Multiple meningiomas of the Spinal canal and Spinal Cord
multiple spinal canal and spinal cord meningioma
An ovarian small cell carcinoma that resembles pulmonary small cell carcinoma of neuroendocrine type.
pulmonary type ovarian small cell carcinoma
An ovarian small cell carcinoma that is associated with paraneoplastic hypercalcemia.
hypercalcemic type ovarian small cell carcinoma
small-cell carcinoma of the ovary of hypercalcemic type
adult Infiltrating Astrocytic tumor
adult Infiltrating astrocytoma
An endometrial adenocarcinoma that is composed of both type I (endometrioid) and type II (serous or clear cell type) tumors, with at least 10% of each component.
An ovarian primitive germ cell tumor that has_material_basis_in trophoblastic cells and develops in the absence of a preceding gestational event.
Amyotrophia
Muscle wasting
Wasting - muscle
Inverted papilloma of the Sphenoid sinus
Schneiderian papilloma of the Sphenoid sinus
A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina.
RB - Retinoblastoma
neuroblastoma of Retina
adenocarcinoma of the maxillary sinus
adenocarcinoma of maxillary sinus
pancreatic non-invasive intraductal papillary-mucinous carcinoma
Leptomeningeal sarcoma
sarcoma of Leptomeninges
An autonomic nervous system neoplasm that derives_from immature nerve cells.
An aortic aneurysm that is located_in the abdominal aorta.
AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1
malignant tumor of lung Hilum
primary malignant neoplasm of hilus of lung
pancreatic ACTH hormone producing tumour
pancreatic Adrenocorticotropic Hormone Producing tumor
pancreatic Adrenocorticotropic Hormone Producing tumour
non-functioning pancreatic endocrine tumor
A disease of anatomical entity that is located_in the gastrointestinal tract.
GIT disease
Gastroenteropathy
alimentary system disease
digestive system disorder
gastrointestinal disease
gastrointestinal disorder
Signet Ring cell adenocarcinoma of rectum
perianal skin Paget disease
A malignant neoplasm that derives_from the retina.
meningioma of the Tuberculum Sellae
Osteoclast-like Giant cell neoplasm of pancreas
osteoclast-like giant cell neoplasm of the pancreas
An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type.
Epileptic seizures, tonic-clonic
Grand Mal epilepsy
tonic-clonic epilepsy
epilepsy with generalized tonic-clonic seizures
pancreatic acinar cell cystadenocarcinoma
malignant pediatric hemangiopericytoma
pediatric MPNST
signet ring cell intrahepatic cholangiocarcinoma
mucinous Cystadenoma of pancreas
Lymphoma of retina
Retinal Lymphoma
An extraocular retinoblastoma that effects children.
primary intraocular lymphoma
A brain ependymoma that is characterized by tumor in the ependyma of adults located_in spine, located_in intracranial (4th ventricle) and has_material_basis_in abnormally proliferating cells derives_from ependymal cells.
A biliary papillomatosis located_in an extrahepatic bile duct.
A childhood leukemia that occurs during the neonatal period.
A kidney benign neoplasm that encompasses cystic nephroma and cystic partially differentiated nephroblastoma.
childhood renal Wilms cancer
pediatric Multilocular cystic renal tumor
benign Multilocular cystic renal tumor
childhood multilocular cystic kidney neoplasm
Supraglottic carcinoma
Subglottic carcinoma
carcinoma of subglottis
Coats' disease
Coats' syndrome
Exudative retinopathy
A psychotic disorder that involves an uncommon psychiatric condition in which patients present with circumscribed symptoms of non-bizarre delusions, but with the absence of prominent hallucinations and no thought disorder, mood disorder, or significant flattening effect.
Osteogenic sarcoma of breast
A uterine disease that is located_in the placenta.
Glioblastoma multiforme of spinal cord
adult Spinal Cord Glioblastoma
adult spinal cord glioblastoma multiforme
necrotic Choroid melanoma
An uveal melanoma characterized by the presence of tumor cell necrosis.
mixed astrocytoma-ependymoma-oligodendroglioma
Multifocal Clear cell meningioma of Spine
An osteosarcoma that is located_in the soft tissues without direct attachment to the skeletal system and results in the production of osteoid, bone, or chondroid material.
A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.
end stage renal failure
A nipple benign neoplasm that is characterized a as locally infiltrative nonmetastasizing tumor of the nipple.
infiltrating nipple syringomatous adenoma
A kidney failure that is characterized by the gradual loss of kidney function.
CKD
CRF
chronic kidney failure
chronic renal disease
chronic renal failure syndrome
renal failure - chronic
pancreatic non-functioning delta cell tumor
An embryonal tumor with multilayered rosettes, C19MC-altered that occurs during childhood.
childhood embryonal tumor with multilayered rosettes, C19MC-altered
A breast carcinoma that is manifested in the female breast.
Mammary carcinoma of female breast
carcinoma of female breast
A histiocytic and dendritic cell cancer that effect dendritic cells.
Interdigitating cell sarcoma
A histiocytic and dendritic cell cancer that is mainly located_in lymph nodes.
follicular dendritic cell sarcoma
pancreatic intraductal papillary-mucinous adenoma
germinoma of the adult central nervous system
Inverted papilloma of the maxillary sinus
An atypical polypoid adenomyoma that is located_in the uterine corpus.
uterine corpus atypical polypoid adenomyoma
An ovarian benign neoplasm characterized by solid proliferations of luteinized cells, resulting in a tumor-like ovarian enlargement that regresses during the puerperium.
leuteoma of pregnancy
luteoma of pregnancy
A parasitic ectoparasitic infectious disease that involves infestation of mites belonging to the family Sarcoptidae, Trombiculidae and Demodicidae.
Hypotony of eye
An extraskeletal myxoid chondrosarcoma occurring in adults.
adult myxoid chondrosarcoma Retired NCI concept.
adult extraskeletal myxoid chondrosarcoma
A squamous cell carcinoma that is located_in the maxillary sinus.
Epidermoid carcinoma of the Maxillofacial sinus
WHO grade II mixed glioma
meningioma of the cervical Spinal canal and Spinal Cord
cervical spinal canal and spinal cord meningioma
benign Psammomatous Schwannoma of mediastinum
benign mediastinal psammomatous neurilemmoma
benign Schwannoma of mediastinum
Squamoid Thymoma
Thymoma, epithelial
Well differentiated thymic carcinoma
Thymoma, medullary, malignant
Refractory testicular carcinoma
glandular-alveolar pattern testicular yolk sac tumor
precursor T-lymphoblastic lymphoma/leukemia refractory
refractory T lymphoblastic leukemia/lymphoma
Barrett adenocarcinoma
adenocarcinoma Arising in Barrett's Mucosa
A central nervous system adult germ cell tumor that develops from misfolding and misplacement of embryonic cells into the lateral mesoderm, causing these cells to become entrapped in different areas of the brain, has_material_basis_in abnormally proliferating cells derives_from germ cells.
adult central nervous system mixed germ cell tumor
stroma-dominant and stroma-poor composite ganglioneuroblastoma
Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma
A nipple carcinoma that is located_in the nipple duct.
sarcomatous carcinoma of the penis
sarcomatoid penile squamous cell carcinoma
Gastrinoma of duodenum
duodenal G-cell gastrin producing tumor
malignant duodenal gastrinoma
malignant eccrine spiradenoma
A cervial squamous cell carcinoma that is characterized by polygonal squamous cells growing in sheets or nests but keratin pearls are not present.
cervical non-keratinizing squamous cell carcinoma
An endometrial disease that is caused by tamoxifen exposure.
lipid-cell variant infiltrating bladder urothelial carcinoma
plasmacytoid variant infiltrating bladder urothelial carcinoma
nested variant infiltrating bladder urothelial carcinoma
microcystic variant infiltrating bladder urothelial carcinoma
lymphoma-like variant infiltrating bladder urothelial carcinoma
A breast cancer that arises_from cutaneous sweat glands and is characterized by a focus of benign spiradenoma within or adjacent to the malignant tumor, as evidenced by increased mitotic rate, necrosis, nuclear atypia, pleomorphism, and hyperchromasia, loss of nested and trabecular growth patterns, and absence of a dual cell population.
malignant Eccrine Spiradenoma of the breast
A breast duct papilloma that is characterized by a central area of scarring and elastosis, derived from an obliterated duct.
Falcine meningioma
A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin.
Varix
Venous ectasia
Venous varices
varices
A thyroid gland disease that is characterized by excess thyroid hormone.
A thyroid gland disease that involves an over production of thyroid hormone.
overactive thyroid
Supraglottic tumor
neoplasm of supraglottis
Alveolar adenoma
adenoma of alveoli
adenoma of the alveoli
primary meningioma of the skin
Pancoast tumour
Pancoast's syndrome
Pancoast's tumour
Superior pulmonary sulcus syndrome
malignant Superior Sulcus tumor
malignant Superior Sulcus tumour
pulmonary sulcus tumor
pulmonary sulcus tumour
Haemarthrosis of shoulder joint
Haemarthrosis of the ankle and foot
Haemarthrosis of the pelvic region and thigh
Hemarthrosis involving ankle and foot
Hemarthrosis involving forearm
Hemarthrosis involving hand
Hemarthrosis involving lower leg
Hemarthrosis involving pelvic region and thigh
Hemarthrosis involving shoulder region
Hemarthrosis involving upper arm
Hemarthrosis of ankle and/or foot
Hemarthrosis of forearm
Hemarthrosis of hand
Hemarthrosis of lower leg
Hemarthrosis of shoulder
Hemarthrosis of shoulder region
Hemarthrosis of the ankle and foot
Hemarthrosis of the ankle and/or foot
Hemarthrosis of the forearm
Hemarthrosis of the hand
Hemarthrosis of the lower leg
Hemarthrosis of the pelvic region and thigh
Hemarthrosis of the shoulder region
Hemarthrosis of the upper arm
Hemarthrosis of upper arm
Mature teratoma of Pericardium
A papillary carcinoma that is located_in the penis.
squamous carcinoma of penis, Papillary type
A fibrosarcoma of soft tissue and sarcoma of liver that is located_in the liver.
A myxoid liposarcoma that is located_in the ovary.
Myxoid Liposarcoma of Ovary
Signet Ring cell adenocarcinoma of the stomach
A breast carcinoma that occurs in people who do not have a family history of that cancer or an inherited change in their DNA that would increase their risk for that cancer.
Pineal meningioma
An ovarian embryonal carcinoma that occurs in childhood.
pediatric Embryonal carcinoma of Ovary
childhood embryonal carcinoma of the ovary
Polyembryoma of testis
A parachordoma arising from the chest wall.
Parachordoma of the Chest Wall
bladder tubulo-cystic clear cell adenocarcinoma
bladder papillary clear cell adenocarcinoma
meningioma of the Olfactory Groove
meningioma of the Pituitary Stalk
Inverted papilloma of the Frontal sinus
A breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in small ducts.
Occlusion and stenosis of carotid artery
sarcomatous intrahepatic cholangiocarcinoma
childhood central nervous system germinoma
myxomatous pattern testicular yolk sac tumor
cellular congenital mesoblastic nephroma
A substance abuse that involves the recurring use of cocaine despite negative consequences.
Schneiderian papilloma of the maxillary sinus
Microfollicular adenoma
A vaginal adenoma that is a polyp that resembles colorectal tubulovillous adenoma.
A bile duct cystadenoma located_in an extrahepatic bile duct.
Cystadenoma of the extrahepatic bile duct
cellular phase chronic idiopathic myelofibrosis
urethral Fibroepithelial polyp
Nephrogenic adenoma of urethra
A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue.
A central nervous system disease that is characterized by neuron inflammation.
A mature teratoma that has_material_basis_in gastric tissue.
Mature teratoma of stomach
Paget's disease of the anal canal
anal canal Paget disease
Paget's disease of anal canal
pseudovascular skin squamous cell carcinoma
An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone.
Epiphyseal necrosis
apophysitis
epiphysitis
osteochondritis
osteochondritis juvenilis
An arthritis that involves infection by a pathogen located_in joint.
infectious arthritis
A breast mucinous carcinoma that is characterized by tall columnar cells with basal, bland nuclei, intracytoplasmic and extracytoplasmic mucin and is grossly solid.
epiglottic cancer
malignant tumor of Epiglottis
Lymphoma of the gallbladder
Clear cell carcinoma of the Thymus
Thymic Carcinosarcoma
CLL/SLL with Unmutated IGVH
pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma
malignant pediatric germ cell tumor
pancreatic invasive intraductal papillary-mucinous carcinoma
appendiceal L-cell glucagon-like peptide producing tumour
malignant appendiceal L-cell glucagon-like peptide producing tumor
malignant appendiceal L-cell glucagon-like peptide producing tumour
malignant appendiceal glucagonoma
appendiceal L-cell glucagon-like peptide producing tumor
Fibroosseous Digital Pseudotumor
A complement deficiency that is characterized by susceptibility to recurrent bacterial infections especially to infections of enveloped organisms, and has_material_basis_in mutation in the complement component 5 (C5) gene on chromosome 9q33.2 that encodes the fifth component of complenent, a part of the innate immune system.
C5 deficiency
A thyroid gland follicular carcinoma that is characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli.
oncocytic carcinoma of the thyroid
benign oncocytoma of the thyroid
malignant melanoma of gallbladder
Fibroepithelial polyp of anus
A cervical adenomyoma that is located_in the endocervix and is characterized by a well circumscribed neoplasm composed of irregularly shaped, benign endocervical-type glands, admixed with myomatous smooth muscle.
A cervical adenomyoma that is characterized by glands and cysts lined by a single layer of endocervical-type mucinous epithelium admixed with smooth muscle.
A cervical adenomyoma that is aumor of endometrium, lower uterine segment and endocervix and is characterized by atypical complex glands with squamous metaplasia mixed with myofibromatous stroma.
A gestational choriocarcinoma that is located_in the fallopian tube.
Gestational Choriocarcinoma of the fallopian tube
fallopian tube gestational choriocarcinoma
A gestational choriocarcinoma that is located_in the uterine corpus.
gestational uterine corpus choriocarcinoma
A choriocarcinoma that is located_in the uterine corpus.
A connective tissue disease characterized by inflammation located_in the mediastinum, which extends from the diaphragm to the thoracic inlet and between the pleural cavities.
papillary pattern testicular yolk sac tumor
hepatoid pattern testicular yolk sac tumor
A cataract that is characterized by multicolored, iridescent opacification of the lens of the eye, and associated with myotonic dystrophy.
An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.
Myocardial inflammation
A syphilis that is characterized as the third stage of syphilis that develops after the disappearance of the secondary symptoms and is marked by ulcers and gummas under the skin and commonly by involvement of the skeletal, cardiovascular, and nervous systems.
late syphilis
meningioma of the Sacral Spinal canal and Spinal Cord
sacral spinal canal and spinal cord meningioma
Superior Sulcus carcinoma of the lung
superior sulcus carcinoma of lung
A fallopian tube adenofibroma that is characterized by the presence of cysts and/or cystic spaces.
meningioma of the Upper Clivus
A breast duct papilloma that is located_in a major duct.
large duct breast papilloma
solitary intraductal breast papilloma
A breast duct papilloma that is characterized by the presence of cells that are abnormal but are not yet malignant.
Apical periodontitis
A biliary papillomatosis located_in an intrahepatic bile duct.
meningioma of the lower Clivus
chronic pericementitis
A central nervous system melanocytic neoplasm that is characterized as an extra-axial well-encapsulated malignant tumour with diffuse meningeal growth and dark coloration (due to high melanin contents).
Leptomeningeal melanomatosis
A rhinitis which is persistent and long-lasting. It may occur with diseases such as syphilis, tuberculosis, rhinoscleroma, rhinosporidiosis, leishmaniasis, blastomycosis, histoplasmosis, and leprosy, all of which are characterized by the formation of inflamed lesions (granulomas) and the destruction of soft tissue, cartilage, and bone. Chronic rhinitis causes nasal obstruction, pus-filled discharge from the nose, and frequent bleeding.
Rhinitis - chronic
Vulval Fibroepithelial polyp
An urogenital tuberculosis that is located_in ureter resulting in ureteral strictures.
tuberculosis of ureter
A female urethral cancer located_in the anterior urethra.
Anterior urethral malignant tumor
hemangioma of Synovium
An embryonal testis carcinoma that is located within a tubule.
A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output.
Retractile mesenteritis
acute generalized peritonitis
primary bacterial peritonitis
sclerosing mesenteritis
Clear cell squamous cell carcinoma of skin
A mite infestation that is a contagious ectoparasite skin infection caused by human itch mite Sarcoptes scabiei type hominis, which burrows into the upper layer of the skin but never below the stratum corneum causing severe itching and a rash found on the hands, folds of the wrist, elbow or knee, penis, breast, and shoulder blades.
Infestation by Sarcoptes scabiei
Infestation by Sarcoptes scabiei var hominis
Sarcoptic itch
A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.
A uterine corpus cancer that has_material_basis_in endometrial stroma and smooth muscle cells.
Stromomyoma
mixed endometrial stromal and smooth muscle tumor
A lymph node benign neoplasm that is composed of myoid or myofibroblastic spindle cells, with focal palisading and so-called amianthoid fibers.
Palisaded Myofibroblastoma of the Lymph Node
Nonossifying Fibromyxoma
A cervical adenocarcinoma that is characterized by tumor cells that are identical to those in adenocarcinoma in situ (ACIS) and mcroscopic findings that suggest invasion.
A proliferative type fibrocystic change of breast that is characterized by enlarged lobules that are distorted by scar-like tissue and excess glandular tissue.
Sclerosing breast Adenosis
An organ system cancer located_in the ear and characterized by uncontrolled cellular proliferation of the auditory organs.
A choriocarcinoma of the ovary that is present during childhood.
childhood ovarian choriocarcinoma
pediatric Choriocarcinoma of Ovary
A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever.
acute appendicitis
acute appendicitis with generalized peritonitis
acute appendicitis with peritoneal abscess
A cervical mucinous adenocarcinoma that is characterized by a dominant pattern of well differentiated, thin and simple papillary structures without broad, fibrovascular cores.
villoglandular variant cervical mucinous adenocarcinoma
A cervical mucinous adenocarcinoma that is characterized by areas of intestinal type differentiation.
intestinal variant cervical mucinous adenocarcinoma
A cervical mucinous adenocarcinoma characterized by the presence of malignant glandular cells that resemble those of the endocervix.
Cervical Mucinous Adenocarcinoma, Endocervical-Type
Mucinous adenocarcinoma, endocervical type
endocervical type cervical mucinous adenocarcinoma
A vascular cancer that is located_in the aorta.
aortic malignant neoplasm
epithelioid MPNST
malignant epithelioid neoplasm of the peripheral nerve Sheath
epithelioid malignant peripheral nerve sheath tumor
A complement deficiency that is characterized by deficiency of complement component 3 that increases susceptibility to infection and autoimmune diseases and has_material_basis_in autosomal recessive inheritance of mutation in the C3 gene on chromosome 19p13.3, has_symptom recurrent bacterial infections.
C3 deficiency
pseudoglandular variant testicular seminoma
A cervical adenosquamous carcinoma that is a rare form and is composed of cells with a glass-like cytoplasm.
glassy cell variant cervical adenosquamous carcinoma
enteric pattern testicular yolk sac tumor
A meningioma that is characterized by the predominance of tissues that are histologically similar to chordoma.
meningioma, chordoid
adult MPNST
tumor of Lumbar Plexus
reticular pattern testicular yolk sac tumor
adult type testicular granulosa cell tumor
An arthritis that has_material_basis_in worn out cartilage located_in joint.
Osteoarthrosis and allied disorder
degenerative arthritis
degenerative joint disease
hypertrophic arthritis
osteoarthrosis
A mite infestation that involves rash caused by Leptotrombidium deliense.
An ischemic bone disease that results_in necrosis located_in epiphysis.
OCD
An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia.
Suberosis
cork-handlers' disease or lung
cork-handlers' lung
malignant Corneal melanoma
malignant melanoma of cornea
A diverticulits characterized by the inflammation of a congenital diverticulum, which is a slight bulge of the small intestine present at birth.
Meckel diverticulitis
A cervical squamous cell carcinoma that is characterized by invasion which diagnosed by microscopy only. Invasion is limited to measured stromal invasion with a maximum depth of 5_mm and no wider than 7_mm diameter.
microinvasive cervical squamous cell carcinoma
An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.
alveolitis
hypersensitivity pneumonitis
pediatric renal Angiomyolipoma
Angiomyolipoma of kidney
renal Angiomyolipoma
carcinoma arising in nasal papillomatosis
Infantile fibrosarcoma
Macrofollicular adenoma
glandular MPNST
malignant glandular tumor of peripheral nerve sheath
follicular infundibulum tumour
neoplasm of the Follicular Infundibulum
tumor of follicular infundibulum
tumour of follicular infundibulum
malignant Retinal melanoma
A breast carcinoma in situ that is characterized by abundant eosinophilic apocrine cytoplasm and large nuclei. It is a variant of ductal carcinoma in situ of the breast.
Apocrine carcinoma in situ of the breast
A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow.
Erythrocythemia
A postgastrectomy syndrome that is characterized by obstruction of the afferent loop that arises after gastric surgery with gastrojejunostomy reconstruction.
Afferent limb syndrome
Postgastric surgery syndrome
Ileus of intestine
A brachial plexus neuropathy characterized by an abnormality, usually caused by disease or trauma, located in the brachial plexus.
Brachial plexus lesions
An intestinal obstruction characterized by abnormal rotation of the intestines.
Twist of intestine, bowel, or colon
Volvulus
familial intestinal malrotation
volvulus of midgut
Intussusception of intestine
Invagination of intestine or colon
A bipolar disorder that involves recurrent hypomanic and dysthymic episodes, but no full manic episodes or full major depressive episodes.
Affective personality disorder
Cycloid personality
Cyclothymia
Cyclothymic personality
A nutritional deficiency disease that is characterized by stomatitis, cheilosis, glossitis, conjunctivitis, and anemia, develops_from vitamin B2 (riboflavin) deficiency, has_symptom red chapped lips, painful swollen tongue, sore throat, blurred vision, and fatigue, and has_material_basis_in inadequate intake, endocrine disorder, liver disorder, alcoholism, and dialysis.
vitamin B2 deficiency
A nutritional deficiency disease that is characterized by normocytic anemia associated with deficiency of pyridoxine (vitamin B6), and has_material_basis_in decreased intake, malabsorption, increased clearance or breakdown, and certain medications (eg isoniazid).
vitamin B6 deficiency syndrome
A nutritional deficiency disease that is characterized by deficiency of choline, which has been associated with development of fatty liver, and possibly has_material_basis_in inadequate intake and exacerbated by a genetic predisposition.
choline deficiency
A nutritional deficiency disease that is characterized by deficiency of niacin (vitamin B3), has_symptom gastrointestinal disturbance, anorexia, diarrhea, dementia, hallucinations, depression, psychosis, and/or non-specific skin changes, and has_material_basis_in deficiency of niacin, often from inadequate diet, malabsorption, or medication side effects.
Niacin deficiency
Niacin-tryptophan deficiency
A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye.
A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.
degeneration of retina
A viral infectious disease that results in infection, located in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness.
Influenza with other manifestations
flu
influenza with non-respiratory manifestation
Morphea
Scleroderma, circumscribed or localised
Scleroderma, circumscribed or localized
circumscribed scleroderma
localised morphea
localised morphoea
localised scleroderma
localized morphea
Whipple's disease
intestinal lipodystrophy
A commensal bacterial infectious disease that results in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures.
Actinomycotic madura foot
Actinomycotic mycetema
Actinomycotic mycetoma of foot
Madura foot due to Actinomadura
actinomycotic infection
actinomycetoma
A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint.
Inflammatory disorder of joint
Rheumatic degeneration of myocardium
Rheumatic fever with myocarditis
Rheumatoid myocarditis
active rheumatic fever with myocarditis
acute rheumatic carditis
acute rheumatic myocarditis
Retinal transient arterial occlusion
Transient arterial retinal occlusion
An opportunistic mycosis that is located_in lungs caused by inhalation of fungal spores while stripping the bark from maple logs, has_material_basis_in Cryptostroma corticale.
Maple bark-strippers' lung
Maple-bark strippers' lung
alveolitis due to cryptostroma corticale
maple bark disease
maple bark stripper's disease
maple bark stripper's lung
An opportunistic mycosis that results_in fungal infection located_in sinuses, located_in brain, or located_in lungs of immunocompromised people, has_material_basis_in Mucorales molds.
disseminated mucormycosis
zygomycosis
A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac.
An interstitial lung disease that is characterized by the development of pleuroparenchymal disease secondary to rheumatoid arthritis, including pleural effusions, pleural fibrosis, pulmonary vascular disease, and airway complications.
Rheumatoid lung
rheumatoid arthritis interstitial lung disease
Congenital night blindness
A retinal disease that is characterized by difficulty or the inability to see in relatively low light.
A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.
Updating out dated CUI and removing lung abscess as a synonym.
Retinal Dystrophy
A dermatitis that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested.
An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy.
A pyoderma consisting of three forms of skin lesions having either a thick, adherent, recurrent, dirty yellow crust with an erythematous margin (common or superficial impetigo) or lessions which are superficial, thin-walled, and bullous as found in bullous impetigo. The lesions in bullous (staphylococcal) impetigo, which are always caused by S aureus, are superficial, thin-walled, and bullous.
Dermatosis herpetiformis
Duhring's disease
A pemphigoid that is characterized by large blisters.
Sneddon-Wilkinson disease or syndrome
A female reproductive system disease that is characterized by a fluid-filled swelling in the Bartholin's glands.
Bartholin duct cyst
Bartholin's Cyst
Cyst of Bartholin's gland
Cyst of Bartholin's gland duct
A congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in the lungs.
cardiopulmonary disease
pulmonary heart disease
A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences.
A myeloid leukemia that is characterized by a dominance of monocytes in the marrow.
Schilling's leukaemia
Schilling's leukemia
monocytic leukaemia
A chronic ulcer of skin where the ulcer is not a decubitus ulcer.
Ulcer of ankle
Ulcer of calf
Ulcer of heel and midfoot
Ulcer of thigh
A collagen disease that is characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck.
A pharynx cancer that is located_in the hypopharynx.
Hypopharyngeal cancer
malignant Hypopharyngeal tumor
malignant neoplasm of hypopharynx
malignant tumor of hypopharynx
malignant tumour of hypopharynx
Acid reflux
GERD
GERD - Gastro-esophageal reflux disease
Gastresophageal reflux
Gastro-esophageal reflux
Gastroesophageal reflux
A viral infectious disease that results_in infection located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The virus is transmitted_by direct contact with the rash, which can develop into chickenpox in newly-infected individuals. The infection has_symptom rash which is followed by blisters, has_symptom headache, has_symptom fever, has_symptom malaise, has_symptom itching, has_symptom burning pain, and has_symptom paresthesia.
Shingles
herpes zona
histiocytic lymphoma
large-cell Lymphomas
A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen.
collagen disorder
Sezary disease
Sezary syndrome
Hodgkin lymphoma, lymphocyte-rich
Hodgkin lymphoma, lymphocytic-histiocytic predominance
Hodgkin's disease, lymphocyte predominance
Lymphocyte Rich Hodgkin's disease
Hodgkin's lymphoma, lymphocytic-histiocytic predominance
A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions.
CFS
Myalgic encephalitis
Myalgic encephalomyelitis
Postviral fatigue syndrome
A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine).
anesthesia related hyperthermia
malignant hyperpyrexia due to anesthesia
Callous ulcer
Indolent ulcer
A myeloid leukemia that is characterized by over production of white blood cells.
CML - chronic Myelogenous Leukemia
Myeloid Leukemia, chronic
chronic granulocytic leukaemia
chronic granulocytic leukemia
chronic myelogenous leukaemia
chronic myelogenous leukemia
chronic myeloid leukaemia
malignant tumor of vallecula
A pharynx cancer that is located_in the oropharynx.
Oropharyngeal carcinoma
malignant Oropharyngeal tumor
malignant tumor of oropharynx
malignant tumour of mesopharynx
oropharyngeal cancer
A multiple carboxylase deficiency that involves a deficiency in biotinidase as the body is not able to use biotin and results in biotin deficiency, and has_material_basis_in homozygous or compound heterozygous mutation in the BTD gene on chromosome 3p25.
BTD deficiency
Juvenile-onset multiple carboxylase deficiency
Late-onset multiple carboxylase deficiency
deficiency of biotinidase
malignant neoplasm of commissure of lip
malignant neoplasm of external Lip, not specified as upper or lower
malignant neoplasm of labial commissure of lip
malignant neoplasm of lip
malignant neoplasm of lip, external
malignant neoplasm of lip, inner aspect
malignant neoplasm of lip, vermilion border
malignant neoplasm of lower lip, buccal aspect
malignant neoplasm of lower lip, inner aspect
malignant neoplasm of lower lip, mucosa
malignant neoplasm of lower lip, oral aspect
malignant neoplasm of oral aspect of lip, not specified whether upper or lower
malignant neoplasm of other sites of lip
malignant neoplasm of vermilion border of lip
malignant tumor of commissure of lip
malignant tumor of labial mucosa
malignant tumor of lip
malignant tumor of lower labial mucosa
malignant tumor of the Lip
malignant tumour of labial commissure
malignant tumour of lip
A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which are transmitted_by direct contact with an active lesion or body fluid of an infected person.
Herpesvirus hominis disease
A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.
Hodgkin disease
Hodgkin lymphoma
Hodgkin's sarcoma
Hodgkins lymphoma
stage I Subdiaphragmatic Hodgkin Lymphoma
stage II Subdiaphragmatic Hodgkin Lymphoma
A viral infectious disease that results in inflammation, located in pharynx, has_material_basis_in Human herpesvirus 4 and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly.
Filatov's disease
Gammaherpesviral mononucleosis
Monocytic angina
Pfeiffer's disease
glandular fever
mononucleosis
An amino acid metabolic disorder that involves failures of carboxylation enzymes.
Pinkus' disease
A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.
Left-sided ulcerative colitis
malignant tumor of soft palate
malignant tumor of the soft Palate
A mature B-cell neoplasm of B-cells found in the germinal center.
Burkitt lymphoma/leukaemia
Burkitt's Lymphoma
Burkitt's tumor
Burkitt's tumor or lymphoma
malignant lymphoma, Burkitt's type
small Non-Cleaved cell Lymphoma, Burkitt's type
A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase.
Biotin-(propionyl-CoA-carboxylase) ligase deficiency
Multiple carboxylase deficiency - neonatal onset
acute GIT vascular insuffic.
acute gastrointestinal tract vascular insuffic.
acute intestinal Ischemia
acute intestinal vascular insufficiency
acute vascular insufficiency of intestine
An upper respiratory tract disease described as an acute contagious disease caused by Group A bacteria of the genus Streptococcus (especially various strains of S. pyogenes) and characterized by inflammation of the nose, throat, and mouth, generalized toxemia, and a red rash.
Scarlatina
malignant tumor of upper gingiva
malignant tumour of upper gum
malignant Gingival tumor
malignant neoplasm of gum
malignant neoplasm of other sites of gum
malignant tumor of gum
malignant tumour of gingiva
A herpes simplex that results_in infection located_in skin of the finger, toe, or thumb, has_material_basis_in Human herpesvirus 1 and has_material_basis_in Human herpesvirus 2 and has_symptom lesions, has_symptom fever, and has_symptom swollen lymph nodes.
Herpetic felon
Induratio penis plastica
Peyronie disease
Peyronie's Fibromatosis
A gastrointestinal system cancer that is located_in the oral cavity.
malignant neoplasm of floor of mouth
A sleep disorder that involves recurring bouts of excessive amounts of sleepiness.
primary recurrent hypersomnia
Diplegia of upper limbs
Diplegia, upper
A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash.
morbilli
Hodgkin lymphoma, lymphocyte depletion
Hodgkin's disease, lymphocytic depletion
Hodgkin's lymphocytic depletion of unspecified site
Lymphocyte-Depleted Classical Hodgkin Lymphoma
Hodgkin's lymphoma, lymphocytic depletion
A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system.
A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (HHV8).
Kaposi sarcoma
Kaposi's sarcoma of Heart
Kaposi's sarcoma of anus
Kaposi's sarcoma of central nervous system
Kaposi's sarcoma of conjunctiva
Kaposi's sarcoma of cornea
Kaposi's sarcoma of esophagus
Kaposi's sarcoma of gastrointestinal sites
Kaposi's sarcoma of lung
Kaposi's sarcoma of lymph nodes
Kaposi's sarcoma of palate
Kaposi's sarcoma of penis
Kaposi's sarcoma of skin
Kaposi's sarcoma of soft tissue
Kaposi's sarcoma of soft tissues
Kaposi's sarcoma of the CNS
Kaposi's sarcoma of the gallbladder
Kaposi's sarcoma of the prostate
Kaposi's sarcoma, lung
Kaposi's sarcoma, skin
anal Kaposi's sarcoma
cardiac Kaposi's sarcoma
central nervous system Kaposi's sarcoma
conjunctival Kaposi's sarcoma
corneal Kaposi's sarcoma
cutaneous Kaposi's sarcoma
esophageal Kaposi's sarcoma
gallbladder Kaposi's sarcoma
gastric Kaposi's sarcoma
intestinal Kaposi's sarcoma
lymph node Kaposi's sarcoma
lymphadenopathic Kaposi's sarcoma
palate Kaposi's sarcoma
penis Kaposi's sarcoma
prostate Kaposi's sarcoma
pulmonary Kaposi's sarcoma
soft tissue Kaposi's sarcoma
African lymphadenopathic Kaposi's sarcoma
Kaposi's sarcoma-associated herpesvirus (KSHV)
CMI - chronic mesenteric ischaemia
chronic mesenteric ischemia
chronic intestinal vascular insufficiency
An in situ carcinoma that is located_in the prostate.
PIN III
carcinoma in situ of prostate
grade III PIN
malignant Uvular tumor
malignant tumor of uvula
A vein disease that is characterized by inflammation of a vein.
Hodgkin paragranuloma
Hemorrhagic duodenitis
malignant neoplasm of tongue
A vascular disease that is characterized by inflammation of the blood vessels.
Angiitis
Hodgkin granuloma
Hodgkin's disease, mixed cellularity
A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters.
varicella
A vascular disease that is located_in a vein.
malignant Postcricoid tumor
malignant tumor of pharyngoesophageal junction
An oral cavity carcinoma in situ that is located_in the lip.
malignant neoplasm of hypopharyngeal aspect of aryepiglottic fold
malignant tumor aryepiglottic fold - hypopharyngeal aspect
A cholesteatoma located_in paranasal sinus.
A specific developmental disorder that is characterized by abnormal eating habits that may involve either insufficient or excessive food intake to the detriment of an individual's physical and emotional health.
ENTEROCOLITIS NECROTIZING
Necrotizing enterocolitis in fetus OR newborn
Perinatal necrotising enterocolitis
Pseudomembranous enterocolitis in newborn
necrotizing enterocolitis
Alcoholic gastritis, with hemorrhage
Alcoholic gastritis, without mention of hemorrhage
Chloroma
Extramedullary Myeloid tumor
Granulocytic sarcoma
A carcinoma in situ that is characterized by the spread of cancer in skin and the lack of invasion of surrounding tissues.
Cutaneous carcinoma in situ
carcinoma in situ of skin
malignant neoplasm of tonsillar pillar
malignant neoplasm of tonsillar pillars, posterior
malignant tumor of tonsillar pillar
malignant tumour of tonsillar pillar
An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image.
A keratosis that is characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction.
mycosis fungoides lymphoma
A leukemia that is located_in myeloid tissue.
Non-Lymphocytic Leukemia
leukaemia myelogenous
leukemia myelogenous
myeloid granulocytic leukaemia
myeloid granulocytic leukemia
myeloid leukaemia
A nervous system disease that is located_in nerves or nerve cells.
malignant neoplasm of buccal mucosa
malignant neoplasm of cheek, inner aspect
malignant neoplasm of the Buccal Mucosa
malignant tumor of buccal mucosa
A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands.
Genital herpes simplex
Herpes Genitalis
Virus-Genital Herpes
venereal herpes
Acoustic neurofibromatosis
Recklinghausen's neurofibromatosis
central Neurofibromatosis
peripheral Neurofibromatosis
von Reklinghausen disease
A chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure.
Decubitus (pressure) ulcer
Decubitus ulcer any site
pressure sores
pressure ulcer
bedsore
A carcinoma that is an early development defined by the absence of invasion of surrounding tissues.
A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.
Multi Infarct Dementia
multifocal dementia
A viral infectious disease that results_in infection of cattle and humans, located_in skin, has_material_basis_in Pseudocowpox virus, which is transmitted_by contact with the infected cow teats, or transmitted_by fomites. The infection results_in_formation_of lesions on the fingers, hands, and forearms and has_symptom fever, has_symptom lymphangitis, and has_symptom lymphadenopathy.
Milkers' node
Paravaccinia
milker nodule
Pseudocowpox
An aspiration pneumonia caused by anaerobic bacteria like Bacteroides fragilis, Peptostreptococcus, anaerobic streptococci, Fusobacterium species (Fusobacterium nucleatum and Fusobacterium necrophoram). Lung abscess and empyema are diagnosed in this disease.
pneumonia due to anaerobes
A vascular cancer that is characterized by an encapsulated, firm round mass at the bifurcation of the common carotid artery.
malignant Carotid body Paraganglioma
malignant carotid body tumor
cancer of carotid body
A viral infectious disease that results in infection located in skin, has_material_basis_in Variola virus, which is transmitted by droplets from oral, nasal or pharyngeal mucosa, transmitted by contact with the body fluids, or transmitted by fomites. The infection results in formation of lesions, first on the face, hands and forearms and later on the trunk.
Ordinary smallpox
Kraurosis of penis
Penile Leukoplakia
A pneumonia involving inflammation of the lungs caused by bacteria.
Pneumonia due to other gram-negative bacteria
gram-negative pneumonia
A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss.
SKIN SEBORRHEIC
Seborrhoeic dermatitis
Seborrhoeic eczema
seborrhea
Fifth disease
Giant rugal hypertrophy of stomach
MENETRIER DISEASE
familial giant hypertrophic gastritis
hypertrophic gastritis
hypertrophic gastropathy
Tropical pyomyositis
An acute myeloid leukemia that derives from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers.
Megakaryocytic myelosis
Thrombocytic leukaemia
A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus, which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis.
Ecthyma contagiosum
Ecthyma, Contagious
Orf
scabby mouth
sheep pox
thistle disease
An intestinal disease that involves inflammation located_in intestine.
Crohn disease
Crohn's disease of colon
Crohn's disease of large bowel
Granulomatous Colitis
Pediatric Crohn's disease
MESH:C536215 added from NeuroDevNet [WAK].
A viral infectious disease that results_in infection located_in skin, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom rash on the face which spreads to the trunk and limbs, has_symptom fever, has_symptom lymphadenopathy, has_symptom joint pains, has_symptom headache, and has_symptom conjunctivitis.
german measles
An in situ carcinoma that is located_in the breast.
Non-Infiltrating carcinoma of breast
carcinoma in situ of breast
A carcinoma in situ that is characterized by the spread of cancer in the eye and the lack of invasion of surrounding tissues.
carcinoma in situ of eye
An in situ carcinoma that is located_in the lung.
An in situ carcinoma that is located_in the trachea.
Tracheal carcinoma In situ
carcinoma in situ of trachea
Angina at rest
Anginal chest pain at rest
Impending infarction
Preinfarction angina
Unstable angina
Worsening angina
A parasitic helminthiasis infectious disease that involves intestinal infection by the parasite of the genus Heterophyes. The symptoms are diarrhea and colicky abdominal pain. Migration of the eggs to the heart, results in fatal myocardial and valvular damage. Brain can also be infected.
heterophyes infectious disease
An intestine carcinoma in situ that is located_in the colon.
carcinoma in situ of colon
stage 0 Colonic carcinoma
A parasitic infectious disease that occurs when part of the body is infested with parasitic worms such as cestodes, nematodes and trematodes.
helminth infection
helminthiasis
helminthosis
worm infection
parasitic helminthiasis infectious disease
Classical Hodgkin lymphoma, nodular sclerosis
A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Metagonimus yokogawai. The symptoms are diarrhea and colicky abdominal pain. The heart and brain can also be infected.
Infection by Metagonimus yokogawai
A salivary gland cancer that is located_in the sublingual gland.
malignant tumor of sublingual gland
malignant tumor of the Sublingual gland
A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Fasciola hepatica or Fasciola gigantica. During the acute phase, manifestations include abdominal pain, hepatomegaly, fever, vomiting, diarrhea, urticaria and eosinophilia. Occasionally, infection occurs in intestinal wall, lungs, subcutaneous tissue, and pharyngeal mucosa.
Fasciola hepatica infection
Infection by Fasciola
Liver flukes
Sheep liver fluke infection
An oral cavity cancer that is located_in the salivary gland.
malignant neoplasm of salivary gland
An autoimmune disease that is characterized by a constellation of findings that include elevated antibodies to nuclear antigens, antiphospholipids, low complement levels, ulcers, non-scarring alopecia, renal or neurologic damage, and low white blood cell and platelet counts, has_symptom rashes, fatigue, arthritis, hair loss, seizures, and symptoms related to affected organs.
lupus
malignant Tonsillar tumor
malignant neoplasm of faucial tonsil
malignant neoplasm of palatine tonsil
malignant neoplasm of tonsil, faucial
malignant tumor of tonsil
Congenital Infundibular Stenosis
Infundibular pulmonic stenosis
Infundibular pulmonic stenosis, congenital
Subvalvular pulmonic stenosis
pulmonary infundibular stenosis
A monocytic leukemia where the majority of monocytic cells are promonocytes.
acute Monoblastic Leukemia and acute Monocytic Leukemia
acute monocytic leukaemia
acute monocytic leukaemia without mention of remission
acute monocytic leukemia without mention of remission
acute monocytic leukemia, FAB M5
acute monocytic leukemia, morphology
SK - Solar keratosis
Senile hyperkeratosis
Solar keratosis
actinic (Solar) Keratosis
A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center.
A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis).
Devic's disease
Devic's syndrome
An in situ carcinoma that is located_in the penis.
Bowen's disease of penis
Penile intraepithelial neoplasia grade III
Queyrat's erythroplasia
carcinoma in situ of penis
grade III squamous Intraepithelial Lesion of penis
A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Fasciolopsis buski. The symptoms include diarrhea, abdominal pain, fever, ascites, anasarca and intestinal obstruction.
Infection by Fasciolopsis buski
Infectious Disease by Fasciolopsis
Acne roscea
Acne, erythematosa
retinochoroiditis
A dermatitis that is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs.
Pityriasis circinata
A skin disease that is characterized by patches of thick red skin and silvery scales.
Xref MGI. Update outdated UMLS CUI from C00295134 to C0033860.
A variable age at onset electroclinical syndrome characterised by a relentlessly progressive disease course until death.
PME
progressive myoclonic epilepsy
A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions.
Infection by Cladosporium werneckii
Keratomycosis nigricans
Tinea palmaris nigra
microsporosis nigra
A cutaneous mycosis that results_in fungal infection located_in scalp, located_in glabrous skin, or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which have the ability to utilize keratin as a nutrient source.
A vaginal disease that is a precancerous lesion that is characterized by the presence of white plaques which cannot be rubbed off. Histology shows increased keratin.
vaginal Leukoplakia
A skin cancer that has_material_basis_in melanocytes.
cutaneous melanoma
malignant ear melanoma
malignant lip melanoma
malignant lower limb melanoma
malignant melanoma of ear and/or external auricular canal
malignant melanoma of skin of lower limb
malignant melanoma of skin of trunk except scrotum
malignant melanoma of skin of upper limb
malignant neck melanoma
malignant scalp melanoma
malignant trunk melanoma
malignant upper limb melanoma
OMIM IDs, OMIM:612263 and OMIM:608035 represent susceptibility loci[LS].
A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies.
Immune thrombocytopenic purpura
idiopathic thrombocytopenic purpura
primary thrombocytopenic purpura
Ideopath thrombocytopenic pur
Idiopathic purpura
werlhof's disease
A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information.
Academic skill disorder
learning disorder
gastric atrophy
A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes.
Cerebral pseudosclerosis
Westphal pseudosclerosis
Westphal-Strumpell syndrome
Wilson's disease
hepatolenticular degeneration
malignant tumor of retromolar area
A connective tissue disease characterized by progressive fibrosis and thickening located_in the palmar fascia and has_symptom early painless nodules, has_symptom decreased range of motion, has_symptom weakened grip, and has_symptom eventual contracture.
Dupuytren's contracture of foot
Ledderhose's disease
Waldeyer ring cancer
malignant neoplasm of Waldeyer's ring
malignant tumor of Waldeyer's ring
A seborrheic dermatitis that involves fungal infection of the scalp of recently born babies caused by Malassezia furfur. It is occasionally linked to immune disorders. The symptoms include thick, crusty, yellow or brown scales over the child's scalp.
Complement 5 dysfunction
Generalized seborrheic dermatitis of infants
Infantile seborrheic dermatitis
Infantile seborrhoeic dermatitis
Pityriasis capitis
Seborrhea sicca
Seborrhoea capitis
Seborrhoeic dermatitis of scalp
Seborrhoeic eczema of scalp
cradle cap
seborrhea capitis
An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and lattice line refractile and fleck-like opacification located_in the cornea, amyloid deposits beginning in the anterior stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased amyloid protein deposition and disruption of the corneal surface.
familial amyloid neuropathy, Finnish type
High risk non proliferative diabetic retinopathy
Severe NPDR
severe nonproliferative diabetic retinopathy
Retinal abnormality - diabetes-related
An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).
ANEMIA SIDEROBLASTIC
Anemia, hypochromic with iron loading
A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus, which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face.
yaba
An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.
inborn metal metabolism disorder
malignant neoplasm of tonsillar fossa
malignant tumor of tonsillar fossa
A viral infectious disease that results_in infection located_in brain and that has_material_basis_in Measles virus which is immune resistant.
Immunosuppressive measles encephalitis
Van Bogaert's sclerosing leukoencephalitis
subacute sclerosing leukoencephalopathy
A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.
Congenital biliary ectasias
POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1
Xref MGI. OMIM mapping confirmed by DO. [SN]. Updating outdated UMLS CUI. Removing Caroli disease as a synonym as this is a distinct disease.
autosomal dominant polycystic kidney disease
A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work.
Narcolepsy, without cataplexy
paroxysmal sleep
A bile duct disease characterized by cystic dilation of one or more extrahepatic or intrahepatic bile ducts.
Congenital choledochal cyst
An uterus carcinoma in situ that is located_in the uterine cervix.
CIN III
CIN III - carcinoma in situ of cervix
CIN III - severe dyskaryosis
Cervix Ca in situ
Severe Dysplasia of the Cervix Uteri
Severe dysplasia of cervix
carcinoma in situ of cervix
carcinoma in situ of uterine cervix
carcinoma of cervix stage 0
cervical intraepithelial neoplasia grade III with severe dysplasia
squamous intraepithelial neoplasia, grade III
A myeloproliferative neoplasm characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly.
Osler-Vaquez syndrome
Polycythaemia rubra vera
Proliferative polycythaemia
A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc.
cervical disc degenerative disease
intervertebral disc degeneration
lumbar disc degeneration
vertebral disc disease
A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation.
Cot death
Crib death
SIDS
Sudden death of nonspecific cause in infancy
An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis.
arthritis psoriatica
arthropathic psoriasis
psoriatic arthropathy
Lymphoma of Liver
An in situ carcinoma that is located_in the larynx.
carcinoma in situ of larynx
stage 0 carcinoma of the Larynx
Leukoplakia of esophagus
An in situ carcinoma that is located_in the intestine.
A salivary gland cancer that is located_in the parotid gland.
cancer of parotid gland
malignant neoplasm of the Parotid
malignant tumor of parotid gland
parotid cancer
endometrial/uterine polyp
polyp of Endometrium
polyp of the Uterus
polyp, uterus
A cervix disease that is characterized by the presence of a hyperkeratotic lesion.
Leukoplakia of cervix
Leukoplakia of cervix uteri
Leukoplakia of the uterine Cervix
A peroxisomal biogenesis disorder that is characterized by the reduction or absence of functional peroxisomes in the cells of an individual that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes.
cerebrohepatorenal syndrome
congenital iron overload
An in situ carcinoma that is located_in the bladder.
Flat CIS of the urinary bladder
bladder Ca in situ
carcinoma in situ of bladder
An inherited metabolic disorder that involves peroxisome malfunction.
peroxisomal disorder
A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales.
Infection by Pityrosporum furfur
A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptom redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability.
Dermatitis exfoliativa neonatorum
Pemphigus neonatorum
Ritter disease
Scalded skin syndrome
Staphylococcal scalded skin syndrome
Toxic epidermal necrolysis, subcorneal type
A parasitic protozoa infectious disease that involves infection caused by protozoan parasite of the genus Leishmania, which is transmitted by the bite of sand fly (subfamily Phlebotominae).
Post Kala-Azar Dermal Leishmaniasis
Post-kala-azar dermal leishmaniasis
post-kala-azar dermal infectious disease by leishmaniasis
Fibroma of the Liver
Midfacial Necrotising Lesion
malignant granuloma of face
A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.
Lupus Erythematosus, systemic
SLE - Lupus Erythematosus, systemic
disseminated lupus erythematosus
primary macroglobulinemia
An in situ carcinoma that is located_in the anus.
anal carcinoma stage 0
anal intraepithelial neoplasia grade III
carcinoma in situ of anal canal
carcinoma in situ of anus
A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement.
REM sleep behaviour disorder
Rapid eye movement sleep behavior disorder
Rapid eye movement sleep behaviour disorder
An in situ carcinoma that is located_in the esophagus.
Severe esophageal dysplasia
carcinoma in situ of esophagus
carcinoma in situ of oesophagus
oesophagus carcinoma in situ
stage 0 carcinoma of the esophagus
stage 0 carcinoma of the oesophagus
Other erythematosquamous dermatosis
A skin disease that is located_in the sebaceous gland.
malignant neoplasm of occipital lobe
neoplasm of occipital lobe
tumor of Occipital Lobe
An in situ carcinoma that is located_in the uterus.
A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.
Asian Desert Cutaneous Leishmaniasis
Leproid leishmaniasis
diffuse cutaneous leishmaniasis
A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers.
donovanosis
pudendal ulcer
A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.
AML - acute Myeloid Leukemia
Leukemia, Myelocytic, acute
acute myeloblastic leukaemia
acute myeloblastic leukemia
acute myelogenous leukaemia
acute myelogenous leukemia
acute myeloid leukaemia
A disease of metabolsism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition.
amyloid disease
amyloidosis has both inherited and aquired subtypes [LS].
A herpes simplex that results_in infection located_in skin, effected by preexisting dermatosis, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2. The infection has_symptom watery blisters, has_symptom fever, and has_symptom swelling of the lymph nodes.
Herpes simplex dermatitis of eyelid
Herpes simplex eyelid dermatitis
Herpes simplex virus dermatitis
herpes simplex dermatitis
herpes simplex virus eyelid dermatitis
malignant tumor of lower gingiva
malignant tumour of lower gum
A neuromuscular disease that is characterized by an abnormal reduction in the muscle volume and atrophy.
An in situ carcinoma that is located_in the liver.
carcinoma in situ of liver and biliary system
carcinoma in situ of liver, gallbladder and bile ducts
An in situ carcinoma that is located_in the stomach.
carcinoma in situ of stomach
gastric carcinoma in situ
hepatic peliosis
A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver.
Infection by visceral leishmaniasis
Kala-Azar
malignant neoplasm of hard palate
malignant tumor of hard palate
malignant tumour of hard palate
A smallpox that results_in milder infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions.
Alastrim
cottonpox
milkpox
whitepox
A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa.
American cutaneous leishmaniasis
American mucocutaneous leishmaniasis
Cutaneous leishmaniasis, American
Mucocutaneous leishmaniasis, American
New World cutaneous leishmaniasis
A commensal bacterial infectious disease that results in infection, located in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has symptom large blisters, has symptom pain in the infected area, has symptom myonecrosis, has symptom gas production, and has symptom sepsis.
Gas bacillus infection
epithelial hepatic and intrahepatic bile duct neoplasm
An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing.
Lack of reflex relaxation of lower oesophageal sphincter
achalasia of cardia
achalasia of esophagus
cardiospasm
esophageal achalasia
hypertensive lower esophageal sphincter
Dermatitis artefacta
Dermatitis factitia
Dermatitis ficta
Factitious skin disease
A syndrome that is characterized by abnormal immune system function and a reduced ability to form blood clots resulting from a decrease in the number and size of blood cell fragments involved in clotting (microthrombocytopenia).
Wiskott syndrome
leiomyoma of the Liver
malignant neoplasm of submaxillary gland
malignant tumor of submandibular gland
malignant tumor of the Submandibular gland
An in situ carcinoma that is located_in the rectum.
Severe Rectal Dysplasia
Severe dysplasia of rectum
carcinoma in situ of rectum
Inflammatory Pseudotumor of the Liver
A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs.
amoebiasis
entamoebiasis
chronic intestinal amebiasis
An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causeing lesions and blisters that are easily ruptured.
malignant neoplasm of vestibule of mouth
malignant tumor of vestibule of mouth
Dyskinesia of oesophagus
Oesophageal dysmotility
Oesophageal motor disorder
esophageal dysmotility
esophageal motility disorder
A communication disorder that involves difficulty with the act of speech production.
A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes.
Lichen, ruber planus
lichen ruber planus
An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium.
Barrett esophagus
Barrett's esophagus with esophagitis
Barrett's oesophagus
Barrett's ulcer of esophagus
Barretts syndrome
ulcerative esophagitis
A sleep disorder that involves involuntary limb movement during sleep.
nocturnal myoclonus
A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache.
Geniculate herpes zoster
Herpes zoster auricularis
Herpetic geniculate ganglionitis
Ramsay Hunt syndrome type 2
Ramsay Hunt syndrome type II
Ramsey Hunt syndrome
geniculate neuralgia
nervus intermedius neuralgia
A skin disease that is characterized by hyperkeratotic follicular papules coalescing into orange-red scaly plaques, islands of sparing, and palmoplantar keratoderma.
Devergie's disease
A sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing.
primary central sleep apnea
central sleep apnea syndrome
A sweat gland disease that is characterized by recurrent vesicles and bullae that develop particularly upon the lateral palms, soles, and fingers and has_symptom pruritis and cracked skin.
Cheiropompholyx
DYSHYDROTIC ECZEMA
Vesicular eczema of hands and/or feet
dyshidrosis
An in situ carcinoma that is located_in the kidney.
malignant neoplasm of pyriform fossa
malignant neoplasm of the Pyriform Fossa
malignant tumor of pyriform fossa
A neuropathy that is characterized by intense, burning pain of affected extremities, severe redness and increased skin temperature.
erythermalgia
A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts.
Alagille-Watson syndrome
Arteriohepatic dysplasia
An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia.
Cerebral Hemorrhage, Hereditary, with Amyloidosis
Hereditary Cerebral Hemorrhage with Amyloidosis
The existing disease ontology entity 'cerebral amyloid angiopathy' is considered to be a subclass of 'cerebrovascular disease' in addition to 'inherited metabolic disorder' and 'amyloidosis', in the context of the NND. Moreover, we added 'congophilic angiopathy' as a synonym.
A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14.
A syndrome that results_in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly.
type IV short rib polydactyly syndrome
A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation.
ACLS
SCHINZEL ACROCALLOSAL SYNDROME
Schinzel syndrome 1
An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.
inborn errors of amino acid metabolism
GANT
GIST
Stromal tumor of gastrointestinal tract
Stromal tumour of gastrointestinal tract
gastrointestinal stromal tumour
A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood.
A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language.
Wilhemsen-Lynch disease
frontotemporal lobar degeneration
multiple system tauopathy with presenile dementia
pallidopontonigral degeneration
A large intestine cancer that is located_in the colon and/or located_in the rectum.
A syndrome characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes.
Waardenburg Shah syndrome
Waardenburg syndrome
van der Hoeve Halbertsona Waardenburg syndrome
Waardenburg, types I and/or II
A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.
Nasopharyngeal carcinoma
malignant Nasopharyngeal tumor
malignant neoplasm of nasopharynx
nasopharynx cancer
carcinoma of nasopharynx
An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine.
CBS deficiency
cystathionine beta synthase deficiency
cystathionine synthase deficiency
An amino acid metabolic disorder that involves deficiency in histidine.
Disturbances of histidine metabolism
An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder.
An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream.
disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia
disorder of urea cycle metabolism
urea cycle defect
An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues.
Non-ketotic hyperglycinemia
nonketotic hyperglycinemia
An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures.
Ketoacidaemia
branched chain ketoaciduria
dihydrolipoamide dehydrogenase deficiency
An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct.
Homogentisate 1,2-dioxygenase deficiency
alcaptonuria
deficiency of homogentisicase
An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.
deficiency of citrulline phosphorylase
ornithine transcarbamylase deficiency
ornithine carbamoyltransferase deficiency
An inherited urea cycle disorder that involves the accumulation of ammonia and other toxic substances in the blood.
ASS deficiency
deficiency of citrulline-aspartate ligase
An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood.
An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine.
An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine.
Arginase deficiency
argininemia
deficiency of canavanase
An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.
An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.
Folling's disease
PKU
maternal phenylketonuria
phenylalaninemia
An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss.
A glaucoma characterized by clinical features and risk factors that are associated with high likelihood to developing optic atrophy secondary to glaucoma in the future. These features may include elevated intraocular pressure, retinal nerve fiber layer abnormalities, abnormal anterior chamber angles, and/or a positive family history for glaucoma without any evidence of current optic nerve atrophy.
Preglaucoma
A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain.
Mentulagra
Myopathy of extraocular muscles
An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences.
Labium leporinum
cheiloschisis
cleft lip, unilateral, complete
complete unilateral cleft lip
hare lip
disease of lips
malignant Myocardial tumor
malignant neoplasm of myocardium
tumor of Myocardium
A communication disorder that involves the processing of linguistic information.
An adnexa disease that is located_in the eye socket.
Neurofibroma of Heart
An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen.
Procidentia, rectum
A parasitic helminthiasis infectious disease that involves zoonotic infection caused by Moniezia expansa, the common tapeworm of sheep.
A respiratory system benign neoplasm that arises from the nasal cavity.
neoplasm of nasal cavity
tumor of the nasal cavity
A ethmoid sinusitis which lasts for 12 weeks or more.
chronic ethmoid sinusitis
chronic ethmoidal sinusitis
ethmoidal sinusitis - chronic
A lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) or Staphylococcus aureus. Lymphangitis is also sometimes called blood poisoning.
Blind spot area scotoma
Enlarged angioscotoma
Enlarged blind spot
Enlarged paracaecal scotoma
Generalized visual field contraction or constriction
Scotoma of blind spot area
Sector or arcuate visual field defects
Zoophilia
A disease by infectious agent that results in infection, has_material_basis_in Viruses.
Viral Infection
Viral disease
virus infection
Congestion-fibrosis syndrome
Taylor syndrome
pelvic congestion syndrome
Dissection of carotid artery
A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.
A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.
NIDDM
non-insulin-dependent diabetes mellitus
type 2 diabetes
type II diabetes mellitus
A central nervous system disease that is located_in the brain.
encephalopathy
A chronic asthma that is triggered by factors not attributable to allergies.
An acute asthma that is characterized by an acute episode with a progressive severity that is poorly responsive to standard therapeutic measures, regardless of disease severity or phenotypic variant.
Asthma with status asthmaticus
Severe asthma attack
Seminal vesiculitis
Pseudotumor of orbit
orbital myositis
A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface.
Fuch's Heterochromic iridocyclitis
Fuchs uveitis syndrome
Fuchs' heterochromic cyclitis
Posner-Schlossman syndrome
Terrien-Viel syndrome
primary iridocyclitis
Infectious secondary iridocyclitis
secondary infected iridocyclitis
secondary iridocyclitis, infectious
A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions.
acute tracheitis
chronic tracheitis
A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus.
Croup syndrome
Laryngotracheobronchitis
acute Obstructive Laryngitis
acute laryngotracheobronchitis
A laryngitis which lasts less than a few days.
An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor.
acute epiglottitis
acute epiglottitis and supraglottitis
A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland.
Pituitary insufficiency
pituitary hormone deficiency
Pituitary hypofunction
strictly posterior acute myocardial infarction
A kidney disease that is characterized by polydipsia and polyuria with a dilute urine having a specific gravity less than 1.010, hypernatremia, and dehydration.
A hypopituitarism characterized by deficiency in growth hormone and at least one other pituitary hormone.
Simmond's disease
Simmonds' disease
An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness.
extrinsic asthma with acute exacerbation
extrinsic asthma with status asthmaticus
atopic asthma
An eyelid disease that is characterized by often chronic inflammation of the eyelid, generally the part where eyelashes grow.
A brain disease that is characterized by high pressure inside the skull, the brain tissue and cerebrospinal fluid, has_symptom headache, has_symptom vomiting, has_symptom altered mental status, has_symptom papilledema.
Raised intracranial pressure
renal diabetes
A cervical benign neoplasm that is a polypoid lesion of the superficial cervix or vagina of young girls to adult women and is characterized by papillary stalks covered by mucinous epithelium with focal squamous metaplasia, highly cellular fibrous tissue, no atypia, and minimal mitotic activity.
cervical Muellerian papilloma
A cervical benign neoplasm that is a polypoid lesion characterized by a single papillary frond with a central fibrovascular core and mature squamous epithelium.
squamous papilloma of the Cervix Uteri
A bile duct disease that is an inflammation of the bile duct.
A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in liver cells via the process of steatosis.
Fatty change of liver
Steatosis of liver
alcoholic fatty liver
hepatic lipidosis
A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues.
Lipoid storage diseas
inborn lipid storage disorder
lipoidosis
A parasitic protozoa infectious disease that involves infection of the large intestine by a protozoan parasite Dientamoeba fragilis. The symptoms include diarrhea, stomach pain and cramping, loss of appetite and weight, nausea, and fatigue.
intestinal trichomoniasis
A uterine cancer that is located_in the uterine corpus.
corpus uteri cancer
Exposure keratoconjunctivitis
lagophthalmic keratitis
A cholesteatoma which involves invasion of the squamous tissue into a localized area of bony erosion of the ear canal. It may develop spontaneously or as a consequence of infection, trauma or surgery.
external canal cholesteatoma
An external ear disease that involves inflammation of the outer ear and ear canal. It can be caused by active bacterial or fungal infections.
swimmer's ear
A syndrome characterized by nail dysplasia and absent or hypoplastic patellae that has_material_basis_in heterozygous mutation in LMX1B on chromosome 9q33.3.
Fong disease
Turner-Kiser syndrome
hereditary onychoostedysplasia
iliac horn syndrome
nail patella syndrome
A meningitis that has_material_basis_in a bacterial infection.
A central nervous system disease that is characterized by an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells.
Postpartum Hypopituitarism
Sheehan's syndrome
An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot.
pulmonary artery embolism
pulmonary embolus
An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth.
Maternity blues
postnatal depression
A physical disorder that is characterized by a congenital abnormality characterized by the outpouching or sac formation in the ileum.
Meckel Diverticulum
Persistent vitelline duct
A hypereosinophilic syndrome characterized by the accumulation of eosinophils in the lungs.
disseminated eosinophilic collagen disease
A hematopoietic system disease that is located_in white blood cells.
An eosinophilic pneumonia which slowly progresses over weeks to months. Life-threatening shortness of breath can develop if the condition is not treated. Individuals are often diagnosed with asthma before the advent of this disease.
Cryptogenic pulmonary eosinophilia
An eosinophilic pneumonia described as a form of pulmonary eosinophilia characterized as a mild pneumonitis marked by transitory pulmonary infiltration and eosinophilia and usually considered to be an allergic reaction. It can occur in response to a parasitic infection.
Loeffler's pneumonia
Loffler's syndrome
A breast benign neoplasm that encompasses a range of conditions in which there is marked change in the breast tissue.
A substance abuse that involves the recurring use of cannabis despite negative consequences.
marijuana abuse
A ethmoid sinusitis which lasts for less than 4 weeks.
acute ethmoid sinusitis
acute ethmoidal sinusitis
ethmoidal sinus - acute
A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead.
ethmoidal sinusitis
ethmoiditis
A plasma cell neoplasm that is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count.
plasma cell leukaemia
plasmacytic leukaemia
plasmacytic leukemia
A syndrome characterized by marked short stature with normal or high serum growth hormone and low serum insulin-like growth factor-1 levels that has_material_basis_in homozygous or compound heterozygous mutation in GHR on chromosome 5p13-p12.
Laron-type isolated somatotropin defect
A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease.
A pneumothorax in which air enters into the pleural cavity.
A viral infectious disease that results_in infection, has_material_basis_in Lassa virus, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding.
A myeloid neoplasm that is located_in the plasma cells in bone marrow.
A multiple myeloma that is characterized by M protein in serum and/or urine and evidence of organ damage related the plasma cell neoplasm.
A multiple myeloma that is a slow growing type of myeloma in which abnormal plasma cells results_in too much of a single type of monoclonal antibody.
An endocrine system disease that is located_in the adrenal gland.
A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube.
ciliary motility disorder
immotile ciliary syndrome
A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances.
Polynesian bronchiectasis
Heart predominantly in right hemithorax
Atresia of nares
Imperforate nares
posterior choanal atresia
A candidiasis that involves fungal infection in neonates caused by Candida species. Low birthweight and age, prolonged intravascular catheterization and the use of antibiotic drugs are the principle predisposing conditions for systemic candidiasis in neonates.
Neonatal monilia infection
neonatal candida infection
neonatal moniliasis
A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region.
Venezuelan equine fever
A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms.
urethral Stone
A urinary system disease that is located_in the lower urinary tract and is characterized by the formation of a stone.
An ovary epithelial cancer that is a metastatic signet-ring cell carcinoma, which spreads to the ovary from gastric tissue.
Krukenberg neoplasm
Krukenberg tumor
A connective tissue disease characterized by inflammation located in the fascia.
A primary bacterial infectious disease that results_in infection located_in intestine caused by eating food contaminated with enterotoxins produced by bacteria, has_material_basis_in Staphylococcus aureus. The infection has_symptom diarrhea, has_symptom vomiting, has_symptom nausea, has_symptom cramps, and has_symptom weakness.
Staphylococcal food poisoning
Staphylococcal toxaemia due to food
staphyloenterotoxicosis
Atypical Decubital Fibroplasia
Intravascular Pseudosarcomatous Fasciitis
Postural albuminuria
A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter.
vesico-ureteral reflux
A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement.
Isaacs syndrome
Xref MGI. OMIM mapping confirmed by DO. [SN]. Updated outdated UMLS CUI.
A hematopoietic system disease characterized by white blood cells with unusually shaped nuclei that has_material_basis_in heterozygous mutation in LBR on chromosome 1q42.12.
A mouth disease that is characterized by inflammation of the mouth and lips.
A coccidiosis that involves infection of the intestine and muscles of humans and animals caused by an intracellular protozoan parasite of genus Sarcocystis. The symptoms include mild fever, diarrhea, chills, vomiting, muscle swelling, erythema, muscle tenderness,cough, arthralgia, transient pruritic rashes, headache, malaise and lymphadenopathy.
Sarcosporidiosis
A parasitic protozoa infectious disease that has_symptom mild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease.
Babesiasis
Infection by babesia
piroplasmosis
A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction.
A mouth disease that is characterized by a white patch or plaque that develops in the oral cavity and is strongly associated with smoking.
A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers.
Aphtha
Aphthous ulceration
Canker sore
Oral aphthae
oral ulcer
Oral aphthous ulcer
A placenta disease that is characterized by separation of the placental lining from the uterus of the mother.
abruptio placenta
abruptio placentae
A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging.
Cancrum oris
Gangrenous stomatitis
A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.
A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term.
A viral infectious disease that results in infection, has_material_basis_in Yellow fever virus, which is transmitted by Aedes, transmitted by Haemagogus, or transmitted by Sabethes species of mosquitoes. The infection has symptom fever, has symptom muscle pain, has symptom backache, has symptom headache, has symptom shivers, has symptom loss of appetite, has symptom jaundice, and has symptom bleeding from the mouth, nose, eyes or stomach leading to vomitus containing blood.
Sylvatic yellow fever
Yellow fever, sylvan
jungle yellow fever
urban yellow fever
An acute myocarditis that is characterized by an underlying toxin insult to the myocardium that induces acute inflammation.
A bacterial conjuctivitis that is characterized by pain and tenderness in the eyeball and conjuctival discharge.
Gonococcal conjunctivitis
Gonococcal ophthalmia neonatorum
Neonatal conjunctivitis
Inflammation of tendon sheath
Purulent conjunctivitis
Obstruction of gallbladder
A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in CAPN5 on chromosome 11q13.5.
ADNIV
Retinitis proliferans
autosomal dominant neovascular inflammatory vitreoretinopathy
proliferative vitreoretinopathy
neovascular inflammatory vitreoretinopathy
An eye and adnexa disease that is located in the vitreous of the eye.
A vitreous disease that is characterized by an abscess located_in the vitreous of the eye.
An urogenital tuberculosis that results_in formation of granulomas located_in kidney.
Tuberculosis of kidney
A blue drum syndrome caused by an allergen.
A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color.
acute mucoid otitis media
A non-suppurative otitis media and eustachian tube disorder in which the tube is either too narrow or too wide. It can also be cuased by nasal inflammation which leads to inflammatory swelling and obstruction of the eustachian tube, which, in turn, leads to increased negative pressure in the middle ear and improper ventilation.
A respiratory system disease which involves the upper respiratory tract.
A biliary tract disease characterized by the continuation or development of new gastrointestinal symptoms after cholecystectomy.
A hepatobiliary disease that is located_in the biliary tract.
A varicose veins that is located_in the pelvis.
A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.
IDDM
insulin-dependent diabetes mellitus
type I diabetes mellitus
External thrombosed haemorrhoids
Thrombosed external hemorrhoids
A pelvic varices that is characterized by swollen, inflamed veins around the anus or lower rectum.
hemorrhoidal disease
A hemorrhoid that is located_in the rectum.
ganglion or cyst of synovium/tendon/bursa
A cholecystitis consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues, where gallbladder wall necrosis causes gas formation in the lumen or wall.
Gaseous pericholecystitis
A cholecystitis characterized by nodules containing lipid-laden macrophages.
cardiac aneurysm
A female breast cancer that is located_in the upper-outer quadrant of the breast.
female breast upper-outer quadrant cancer
An intestinal disease that is characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause.
IBD
Irritable colon
Psychogenic IBS
A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi. Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur.
Trichinella spiralis infection
A paralytic poliomyelitis that results in destruction located in motor neurons of brainstem, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, has symptom difficulty speaking, has symptom difficulty swallowing, and has symptom difficulty chewing.
bulbar poliomyelitis
Interstitial myositis
A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions.
Infection by Toxascaris
Toxocara infection
visceral larva migrans
Choroidal degenerations
A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation.
An autoimmune disease that is characterized by antibody attack of the basement membrane in lungs and kidneys, leading to bleeding from the lungs and kidney failure.
anti-GBM disease
anti-glomerular basement membrane disease
A hypersensitivity reaction type III disease that is characterized by inflammation and injury to blood vessels and has_symptom purpura, telangiectasia, blistering, urticaria, and ulcers.
A vasculitis that is characterized by necrotizing inflammation of medium or small arteries.
partial circumpapillary choroid dystrophy
Choroidal dystrophy, serpiginous
progressive Choroidal Atrophy
Choroidal dystrophy, central areolar
A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment.
Drug withdrawal syndrome in newborn
A refractive error that is characterized by rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back.
Far-sightedness
hypermetropia
A strabismus that is characterized the eye which turns inward toward the nose.
Convergence in manifest squint
Internal Strabismus
crossed eyes
Circumpapillary dystrophy of choroid, total
total circumpapillary dystrophy of choroid
A vestibular disease that is characterized by a sensation of motion or spinning that is often described as dizziness due to a problem in the part of the inner ear that controls balance.
labyrinthine hydrops
A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss.
Meniere disease
Mnire's vertigo
Otogenic vertigo
Oro-facial dyskinesia
A syphilis that results_in a multisystem infection in the fetus via the placenta.
A connective tissue disease characterized by corneal scarring that develops from non-suppurative inflammation located_in the corneal stroma, has_symptom visual acuity loss, has_symptom pain, and has_symptom lacrimation.
An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots.
Circumscribed alopecia
An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs.
Disseminated tuberculosis
Tuberculosis miliaris disseminata
acute miliary tuberculosis
generalized tuberculosis
Toxic maculopathy of retina
A carbohydrate metabolic disorder characterized by recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal after introduction of fructose or sucrose to the diet that has_material_basis_in homozygous or compound heterozygous mutation in the aldolase B gene (ALDOB) on chromosome 9q31.
Fructosaemia
Fructose-1,6-bisphosphate aldolase B deficiency
Fructosemia
hereditary fructose intolerance syndrome
A hypotrichosis that is characterized by a loss of hair from the head or body.
A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.
Galactosaemia
Galactose intolerance
A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole.
Barlow's syndrome
floppy mitral valve
mitral leaflet syndrome
myxomatous mitral valve prolapse
systolic click-murmur syndrome
A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries.
A muscular dystrophy that involves slowly worsening muscle weakness of the legs and pelvis, and has_material_basis_in X-linked recessive inheritance of mutation in the dystrophin gene on chromosome Xp21.
Benign pseudohypertrophic muscular dystrophy
benign congenital myopathy
A myopathy is characterized by progressive skeletal muscle weakness degeneration.
Celiac artery compression syndrome
Harjola-Marable syndrome
Marable's syndrome
An atrioventricular block characterized by the presence of conduction system disease of any form, which is diagnosed on or before 28 days of life.
A blepharitis that is characterized as a cyst in the eyelid that is caused by inflammation of a blocked meibomian gland, usually on the upper eyelid.
Chalazion
meibomian gland lipogranuloma
Alopecia mucinosa
An eyelid disease that is characterized by an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection.
Boil of eyelid
Furuncle of eyelid
Stye
A corneal ulcer that is characterized by ulceration and opacification of the central cornea and is caused by minor trauma and subsequent infection by bacterial or mycotic organisms.
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Omsk hemorrhagic fever virus, which is transmitted_by Dermacentor and transmitted_by Ixodes species of ticks. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom pain in lower and upper extremities, has_symptom stiff neck, has_symptom papulovesicular rash on the soft palate, has_symptom cervical lymphadenopathy, has_symptom conjunctival suffusion, has_symptom blood in the urine, and has_symptom blood in the sputum.
A specific developmental disorder that involves disordered motor skills where coordinated muscle movement is impaired.
An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland.
Meningococcal hemorrhagic adrenalitis
A lacrimal apparatus disease that is characterized by longstanding inflammation of the lacrimal passage, and has_symptom pain, increased or decreased tearing, and swelling between the eye and nose.
chronic inflammation of lacrimal passage
An acute inflammation of lacrimal passage that is characterized by inflammation of the lacrimal sac, has_symptom conjunctivitis and has_symptom purulent discharge.
lacrimal mucocele
A glaucoma characterized by elevated intraocular pressure secondary to chronic corticosteroid use, which leads to glaucomatous optic nerve atrophy and progressive vision loss and has_symptom progressive decreased vision, visual field defects, and decreased peripheral vision. Steroid-induced glaucoma is caused by chronic corticosteroid use.
Corticosteroid-induced glaucoma
residual stage corticosteroid-induced glaucoma
A acute leukemia that is characterized by over production of lymphoblasts.
acute lymphoblastic leukaemia
acute lymphocytic leukaemia
precursor lymphoblastic lymphoma/leukemia
An acute leukemia that is characterized by the occurrence of more than one type of leukemia at the same time resulting from either the occurrence of blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens.
Null cell acute lymphoblastic leukaemia
Null cell acute lymphoblastic leukemia
null-cell leukaemia
A congenital heart disease characterized by abnormal development of the left-sided structures of the heart.
A connective tissue disease characterized by inflammation located_in the periosteum of the bone.
A uterine disease that is characterized by the presence of blood in the uterine cavity.
Hematometra
A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia.
disseminated toxoplasmosis
An acquired metabolic disease that is characterized by yellow-orange skin pigmentation due to high levels of carotene in blood.
hypercarotinemia
A uterine disease that is characterized by the uterine cavity turning inside out as a complication of childbirth.
An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.
An overnutrition that is characterized by elevated vitamin D, which can subsequently cause high levels of calcium, has_symptom myalgia, fatigue, irritability, nausea, dehydration, polyuria, and nephrocalcinosis, and possibly has_material_basis_in excess intake of vitamin D.
An overnutrition that is characterized by excess vitamin A, has_symptom hepatomegaly, anorexia, fever, alopecia, and arthralgia, and has_material_basis_in excessive intake of vitaimin A, and/or derangement of vitamin A metabolism.
A substance-related disorder that involves the continued use of alcohol or other drugs despite problems related to use of the substance.
A substance dependence that involves the continued use of drugs despite problems related to use of the substance.
A drug dependence that is a psychological dependency on the regular use of cocaine.
An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.
A drug dependence that involves the continued use of hallucinogenic drugs despite problems related to use of the substance.
A hypereosinophilic syndrome that is characterized by subacute onset of myalgias and peripheral eosinophilia, followed by chronic neuropathy and skin induration.
Eosinophilia myalgia syndrome
An orbital cancer that has_material_basis_in some lymphocyte.
Lymphoma of the orbit
An orbital cancer that has_material_basis_in abnormally proliferating cells derived from embryonic mesoderm.
orbital sarcoma
A tertiary syphilis that results in infection located in brain or located in spinal cord.
late neurosyphilis
A leukocyte disease that is characterized by high numbers of eosinophils which over time enter various tissues, eventually damaging organs.
Eosinophilic leukocytosis
eosinophilia
A glucose metabolism disease that is characterized by abnormally low levels of blood glucose.
Hypoglycaemia
A dilated cardiomyopathy that is characterized by a weakness of the heart muscle that begins sometime during the final month of pregnancy through about five months after delivery.
antepartum peripartum cardiomyopathy
postpartum peripartum cardiomyopathy
"a form of frontotemporal dementia, characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy."
behavioral variant frontotemporal dementia
"Any of various diseases affecting the white matter of the central nervous system."
This entity was added to the disease ontology to enable more specific labelling of clinical diagnoses in the context of the NND. Disorders were labelled as 'brain white matter disease' when a more appropriate entity was not available (which includes diffuse leukoencephalopathy, primary white matter disorder, and (secondary) white matter lesions when no specific cause is mentioned).
"A group of pathological conditions characterized by sudden, non-convulsive loss of neurological function due to brain ischemia or intracranial hemorrhages."
"A rare neurologic disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction."
"Rare progressive neurological disorder characterized by Parkinsonism, cortical atrophy of multiple areas of the brain including the cerebral cortex and the basal ganglia, cognitive dysfunction and eye movement abnormalities."
Although we recognize that the clinical corticobasal syndrome is not always caused by corticobassal degeneration, and that corticobasal degeneration does not necessarily manifest as corticobasal syndrome (amongst others described by Constantinides et al 2019), we nevertheless consider them to be synonymous in the context of the NND when labelling clinical (antemortem) diagnoses, because they have been used interchangeably in clinical practice.
"Accumulation of blood in the epidural space between the skull and the dura mater, often as a result of bleeding from the meningeal arteries associated with a temporal or parietal bone fracture. Epidural hematoma tends to expand rapidly, compressing the dura and underlying brain. Clinical features may include headache; vomiting; hemiparesis; and impaired mental function."
"Stroke due to rupture of a weakened blood vessel in the brain (e.g., cerebral hemispheres; cerebellum; subarachnoid space)."
"An intervertebral disc in which the nucleus pulposus has protruded through surrounding annulus fibrosus. This occurs most frequently in the lower lumbar region."
protruded/herniated/slipped/prolapsed disc
"Bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma."
"Bleeding within the skull, including hemorrhages in the brain and the three membranes of meninges. The escape of blood often leads to the formation of hematoma in the cranial epidural, subdural, and subarachnoid spaces."
"Stroke caused by lacunar infarction or other small vessel diseases of the brain. It features hemiparesis (...), hemisensory, or hemisensory motor loss."
"A form of primary progressive aphasia, characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge."
"A form of frontotemporal lobar degeneration and a progressive form of dementia characterized by motor speech impairment and agrammatism, with relative sparing of single word comprehension and semantic memory."
non-fluent/agrammatic variant PPA (nfvPPA)
"A rare neurologic disease characterized by impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities, relatively intact memory and language in the early stages, and atrophy of posterior brain regions."
Although posterior cortical atrophy as a clinical syndrome can have other causes, the majority is caused by Alzheimer's pathology (Crutch et al 2017). Therefore, we consider posterior cortical atrophy as a sublass/subtype of Alzheimer's disease.
"A progressive form of dementia characterized by the global loss of language abilities and initial preservation of other cognitive functions."
"a dementia syndrome associated with several neuropathologic entities, including Alzheimer’s disease and all major forms of frontotemporal lobar degeneration."
"Systemic inflammatory response syndrome with a proven or suspected infectious etiology. When sepsis is associated with organ dysfunction distant from the site of infection, it is called severe sepsis. (...)"
"Bleeding into the intracranial or spinal subarachnoid space, most resulting from intracranial aneurysm rupture. It can occur after traumatic injuries (...). Clinical features include headache; nausea; vomiting, nuchal rigidity, variable neurological deficits and reduced mental status."
"Accumulation of blood in the subdural space between the dura mater and the arachnoidal layer of the meninges. This condition primarily occurs over the surface of a cerebral hemisphere, but may develop in the spinal canal (...). Subdural hematoma can be classified as the acute or the chronic form, with immediate or delayed symptom onset, respectively. Symptoms may include loss of consciousness, severe headache, and deteriorating mental status."
"Binswanger’s disease (BD) is a form of cerebral small vessel disease characterized by cognitive impairment, gait disturbances with small subcortical ischemic strokes and ischemic white matter hyperintensities. It is strongly associated with long-standing hypertension and symptoms that progress over time."
"a type of dementia that involves extensive microscopic damage to the small blood vessels and nerve fibers that make up the brain's white matter."
subcortical arteriosclerotic encephalopathy
"a form of frontotemporal dementia, characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes."
Mesulam et al. 2021 make a distinction between semantic variant PPA and semantic dementia. The former is characterized by poor word comprehension, while the latter additionally includes impaired face and object recognition (visual associative agnosia). We do not make this distinction between semantic aphasia and dementia when labelling clinical diagnoses in the context of the NND.