4559
5506
14
http://purl.obolibrary.org/obo/MONDO_0021541
hemangioma of retina
'hemangioma of retina' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0021548
total early-onset cataract
http://purl.obolibrary.org/obo/GARD_0001159 EquivalentTo 'total early-onset cataract'
http://purl.obolibrary.org/obo/MONDO_0021400
polyp of colon
http://purl.obolibrary.org/obo/MESH_D003111 EquivalentTo 'polyp of colon'
http://purl.obolibrary.org/obo/MONDO_0021467
benign neoplasm of renal pelvis
'benign neoplasm of renal pelvis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000118
http://purl.obolibrary.org/obo/MONDO_0021451
benign neoplasm of brain
'benign neoplasm of brain' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000107
http://purl.obolibrary.org/obo/MONDO_0011908
juvenile myelomonocytic leukemia
http://purl.obolibrary.org/obo/GARD_0009884 EquivalentTo 'juvenile myelomonocytic leukemia'
http://purl.obolibrary.org/obo/MONDO_0011909
Charcot-Marie-tooth disease dominant intermediate d
http://purl.obolibrary.org/obo/GARD_0009207 EquivalentTo 'Charcot-Marie-tooth disease dominant intermediate d'
http://purl.obolibrary.org/obo/MONDO_0011906
congenital bile acid synthesis defect 1
http://purl.obolibrary.org/obo/GARD_0009813 EquivalentTo 'congenital bile acid synthesis defect 1'
http://purl.obolibrary.org/obo/MONDO_0011901
Charcot-Marie-tooth disease axonal type 2H
http://purl.obolibrary.org/obo/GARD_0009196 EquivalentTo 'Charcot-Marie-tooth disease axonal type 2H'
http://purl.obolibrary.org/obo/MONDO_0011903
Charcot-Marie-tooth disease type 2J
'Charcot-Marie-tooth disease type 2J' EquivalentTo http://purl.obolibrary.org/obo/SCTID_717014003
http://purl.obolibrary.org/obo/MONDO_0011911
craniolenticulosutural dysplasia
'craniolenticulosutural dysplasia' SubClassOf 'rare genetic developmental defect during embryogenesis'
'craniolenticulosutural dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0011910
autosomal dominant limb-girdle muscular dystrophy type 1C
http://purl.obolibrary.org/obo/MESH_C563362 EquivalentTo 'autosomal dominant limb-girdle muscular dystrophy type 1C'
http://purl.obolibrary.org/obo/GARD_0012527 EquivalentTo 'autosomal dominant limb-girdle muscular dystrophy type 1C'
http://purl.obolibrary.org/obo/MONDO_0011913
Alzheimer disease 3
'Alzheimer disease 3' SubClassOf 'early-onset autosomal dominant Alzheimer disease'
http://purl.obolibrary.org/obo/GARD_0009468 EquivalentTo 'Alzheimer disease 3'
'Alzheimer disease 3' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C123412
'Alzheimer disease 3' SubClassOf 'early-onset autosomal dominant Alzheimer disease'
http://purl.obolibrary.org/obo/MONDO_0011929
chromosome 1p36 deletion syndrome
'chromosome 1p36 deletion syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C74983
http://purl.obolibrary.org/obo/MONDO_0011927
tufted angioma (disease)
http://purl.obolibrary.org/obo/GARD_0000425 EquivalentTo 'tufted angioma (disease)'
http://purl.obolibrary.org/obo/MONDO_0011925
congenital merosin-deficient muscular dystrophy 1A
http://purl.obolibrary.org/obo/GARD_0003843 EquivalentTo 'congenital merosin-deficient muscular dystrophy 1A'
http://purl.obolibrary.org/obo/MONDO_0011933
ALG2-CDG
http://purl.obolibrary.org/obo/GARD_0009836 EquivalentTo 'ALG2-CDG'
http://purl.obolibrary.org/obo/MONDO_0011937
peeling skin syndrome 4
http://purl.obolibrary.org/obo/MESH_C564309 EquivalentTo 'peeling skin syndrome 4'
http://purl.obolibrary.org/obo/MONDO_0011935
retinitis pigmentosa 30
http://purl.obolibrary.org/obo/GARD_0010401 EquivalentTo 'retinitis pigmentosa 30'
http://purl.obolibrary.org/obo/MONDO_0011936
microphthalmia with brain and digit anomalies
http://purl.obolibrary.org/obo/GARD_0003645 EquivalentTo 'microphthalmia with brain and digit anomalies'
http://purl.obolibrary.org/obo/MONDO_0011930
epilepsy, familial adult myoclonic, 2
http://purl.obolibrary.org/obo/MESH_C564313 EquivalentTo 'epilepsy, familial adult myoclonic, 2'
http://purl.obolibrary.org/obo/MONDO_0011940
mycobacterium tuberculosis, susceptibility to
http://purl.obolibrary.org/obo/GARD_0002456 EquivalentTo 'mycobacterium tuberculosis, susceptibility to'
http://purl.obolibrary.org/obo/MONDO_0011953
familial acute necrotizing encephalopathy
http://purl.obolibrary.org/obo/GARD_0013232 EquivalentTo 'familial acute necrotizing encephalopathy'
http://purl.obolibrary.org/obo/MONDO_0011959
Sweet syndrome
http://purl.obolibrary.org/obo/GARD_0000521 EquivalentTo 'Sweet syndrome'
http://purl.obolibrary.org/obo/MONDO_0011957
retinal macular dystrophy type 2
http://purl.obolibrary.org/obo/MESH_C562746 EquivalentTo 'retinal macular dystrophy type 2'
http://purl.obolibrary.org/obo/MONDO_0011951
amyotrophic lateral sclerosis type 6
http://purl.obolibrary.org/obo/MESH_C567699 EquivalentTo 'amyotrophic lateral sclerosis type 6'
http://purl.obolibrary.org/obo/MONDO_0011950
infantile-onset autosomal recessive nonprogressive cerebellar ataxia
http://purl.obolibrary.org/obo/GARD_0004954 EquivalentTo 'infantile-onset autosomal recessive nonprogressive cerebellar ataxia'
http://purl.obolibrary.org/obo/MONDO_0011964
DPAGT1-CDG
http://purl.obolibrary.org/obo/GARD_0009837 EquivalentTo 'DPAGT1-CDG'
http://purl.obolibrary.org/obo/MONDO_0011965
familial temporal lobe epilepsy 2
http://purl.obolibrary.org/obo/MESH_C536956 EquivalentTo 'familial temporal lobe epilepsy 2'
http://purl.obolibrary.org/obo/GARD_0005135 EquivalentTo 'familial temporal lobe epilepsy 2'
http://purl.obolibrary.org/obo/MONDO_0011968
autosomal recessive limb-girdle muscular dystrophy type 2D
http://purl.obolibrary.org/obo/GARD_0000438 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2D'
http://purl.obolibrary.org/obo/MONDO_0011969
ALG8-CDG
http://purl.obolibrary.org/obo/GARD_0009834 EquivalentTo 'ALG8-CDG'
http://purl.obolibrary.org/obo/MONDO_0011962
endometrial cancer
'endometrial cancer' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0004230
http://purl.obolibrary.org/obo/MONDO_0011977
8q22.1 microdeletion syndrome
'8q22.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0004722 EquivalentTo '8q22.1 microdeletion syndrome'
http://purl.obolibrary.org/obo/MONDO_0011978
CoQ-responsive oxphos deficiency
http://purl.obolibrary.org/obo/GARD_0010240 EquivalentTo 'CoQ-responsive oxphos deficiency'
http://purl.obolibrary.org/obo/MONDO_0011976
lipodystrophy-intellectual disability-deafness syndrome
'lipodystrophy-intellectual disability-deafness syndrome' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0011979
adult-onset foveomacular vitelliform dystrophy
http://purl.obolibrary.org/obo/GARD_0010909 EquivalentTo 'adult-onset foveomacular vitelliform dystrophy'
http://purl.obolibrary.org/obo/MONDO_0011970
rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
http://purl.obolibrary.org/obo/MESH_C535499 EquivalentTo 'rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome'
http://purl.obolibrary.org/obo/MONDO_0011989
leishmaniasis
http://purl.obolibrary.org/obo/GARD_0006881 EquivalentTo 'leishmaniasis'
http://purl.obolibrary.org/obo/MONDO_0011982
autoimmune thyroid disease, susceptibility to, 3
'autoimmune thyroid disease, susceptibility to, 3' EquivalentTo http://www.orpha.net/ORDO/Orphanet_168347
http://purl.obolibrary.org/obo/MONDO_0011999
OTSC3
http://purl.obolibrary.org/obo/MESH_C564268 EquivalentTo 'OTSC3'
http://purl.obolibrary.org/obo/MONDO_0011992
hereditary spastic paraplegia 25
http://purl.obolibrary.org/obo/GARD_0009582 EquivalentTo 'hereditary spastic paraplegia 25'
http://purl.obolibrary.org/obo/MONDO_0011996
chronic myelogenous leukemia, BCR-ABL1 positive
http://purl.obolibrary.org/obo/GARD_0006105 EquivalentTo 'chronic myelogenous leukemia, BCR-ABL1 positive'
http://purl.obolibrary.org/obo/MONDO_0021348
neoplasm of testis
'neoplasm of testis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0004281
http://purl.obolibrary.org/obo/MONDO_0021331
carcinoma of parotid gland
'carcinoma of parotid gland' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000460
http://purl.obolibrary.org/obo/MONDO_0021353
tumor of uterus
'tumor of uterus' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003859
http://purl.obolibrary.org/obo/MONDO_0021357
tumor of salivary gland
'tumor of salivary gland' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003826
http://purl.obolibrary.org/obo/MONDO_0021386
neoplasm of mediastinum
'neoplasm of mediastinum' SubClassOf 'disease has location' some http://purl.obolibrary.org/obo/UBERON_0003728
'neoplasm of mediastinum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043707
http://purl.obolibrary.org/obo/MONDO_0021389
neoplasm of aortic body
'neoplasm of aortic body' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0011808
cataract 27
http://purl.obolibrary.org/obo/MESH_C564596 EquivalentTo 'cataract 27'
http://purl.obolibrary.org/obo/MONDO_0011801
spinocerebellar ataxia type 1 with axonal neuropathy
http://purl.obolibrary.org/obo/GARD_0010000 EquivalentTo 'spinocerebellar ataxia type 1 with axonal neuropathy'
http://purl.obolibrary.org/obo/MONDO_0011806
osteofibrous dysplasia
'osteofibrous dysplasia' SubClassOf 'rare genetic bone disease'
'osteofibrous dysplasia' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0011803
hereditary spastic paraplegia 7
http://purl.obolibrary.org/obo/GARD_0004927 EquivalentTo 'hereditary spastic paraplegia 7'
http://purl.obolibrary.org/obo/MONDO_0011804
autoimmune lymphoproliferative syndrome type 2B
http://purl.obolibrary.org/obo/GARD_0009796 EquivalentTo 'autoimmune lymphoproliferative syndrome type 2B'
http://purl.obolibrary.org/obo/MONDO_0011819
spinocerebellar ataxia type 19/22
http://purl.obolibrary.org/obo/GARD_0012365 EquivalentTo 'spinocerebellar ataxia type 19/22'
http://purl.obolibrary.org/obo/MONDO_0011811
autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
http://purl.obolibrary.org/obo/GARD_0004952 EquivalentTo 'autosomal recessive cerebellar ataxia-saccadic intrusion syndrome'
http://purl.obolibrary.org/obo/MONDO_0011823
developmental malformations-deafness-dystonia syndrome
'developmental malformations-deafness-dystonia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0011822
Bartter disease type 3
http://purl.obolibrary.org/obo/GARD_0009659 EquivalentTo 'Bartter disease type 3'
http://purl.obolibrary.org/obo/MONDO_0011834
spinocerebellar ataxia type 18
http://purl.obolibrary.org/obo/GARD_0009976 EquivalentTo 'spinocerebellar ataxia type 18'
http://purl.obolibrary.org/obo/MONDO_0011835
sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
http://purl.obolibrary.org/obo/GARD_0009998 EquivalentTo 'sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome'
http://purl.obolibrary.org/obo/MONDO_0011833
spinocerebellar ataxia type 21
http://purl.obolibrary.org/obo/MESH_C537200 EquivalentTo 'spinocerebellar ataxia type 21'
http://purl.obolibrary.org/obo/GARD_0009999 EquivalentTo 'spinocerebellar ataxia type 21'
http://purl.obolibrary.org/obo/MONDO_0011836
thyroid Hurthle cell carcinoma
http://purl.obolibrary.org/obo/GARD_0009428 EquivalentTo 'thyroid Hurthle cell carcinoma'
http://purl.obolibrary.org/obo/MONDO_0011845
migraine with or without aura, susceptibility to, 3
'migraine with or without aura, susceptibility to, 3' SubClassOf 'rare genetic vascular disease'
http://purl.obolibrary.org/obo/MONDO_0011843
hypertrophic cardiomyopathy 25
http://purl.obolibrary.org/obo/MESH_C564388 EquivalentTo 'hypertrophic cardiomyopathy 25'
http://purl.obolibrary.org/obo/MONDO_0011847
migraine without aura
'migraine without aura' SubClassOf 'rare genetic vascular disease'
http://purl.obolibrary.org/obo/MONDO_0011841
biotin-responsive basal ganglia disease
http://purl.obolibrary.org/obo/GARD_0010237 EquivalentTo 'biotin-responsive basal ganglia disease'
http://purl.obolibrary.org/obo/MONDO_0011856
spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
http://purl.obolibrary.org/obo/GARD_0008719 EquivalentTo 'spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome'
http://purl.obolibrary.org/obo/MONDO_0011855
granular corneal dystrophy type II
http://purl.obolibrary.org/obo/GARD_0009278 EquivalentTo 'granular corneal dystrophy type II'
http://purl.obolibrary.org/obo/MONDO_0011850
migraine with or without aura, susceptibility to, 5
'migraine with or without aura, susceptibility to, 5' SubClassOf 'rare genetic vascular disease'
http://purl.obolibrary.org/obo/MONDO_0011851
migraine with or without aura, susceptibility to, 6
'migraine with or without aura, susceptibility to, 6' SubClassOf 'rare genetic vascular disease'
http://purl.obolibrary.org/obo/MONDO_0011868
lethal congenital contracture syndrome 2
'lethal congenital contracture syndrome 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0011862
hereditary spastic paraplegia 24
http://purl.obolibrary.org/obo/GARD_0009296 EquivalentTo 'hereditary spastic paraplegia 24'
http://purl.obolibrary.org/obo/MONDO_0021200
rare disease
http://purl.obolibrary.org/obo/MESH_D035583 EquivalentTo 'rare disease'
http://purl.obolibrary.org/obo/MONDO_0021201
skin infection
'skin infection' EquivalentTo http://purl.obolibrary.org/obo/SCTID_19824006
http://purl.obolibrary.org/obo/MONDO_0021203
serous otitis media
'serous otitis media' EquivalentTo http://www.orpha.net/ORDO/Orphanet_390766
http://purl.obolibrary.org/obo/MONDO_0011878
Worth syndrome
'Worth syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254131007
http://purl.obolibrary.org/obo/GARD_0009488 EquivalentTo 'Worth syndrome'
http://purl.obolibrary.org/obo/MONDO_0011876
juvenile absence epilepsy
http://purl.obolibrary.org/obo/GARD_0002162 EquivalentTo 'juvenile absence epilepsy'
http://purl.obolibrary.org/obo/MONDO_0011877
autosomal dominant osteopetrosis 1
http://purl.obolibrary.org/obo/GARD_0004151 EquivalentTo 'autosomal dominant osteopetrosis 1'
http://purl.obolibrary.org/obo/MONDO_0011874
neonatal ichthyosis-sclerosing cholangitis syndrome
http://purl.obolibrary.org/obo/GARD_0010583 EquivalentTo 'neonatal ichthyosis-sclerosing cholangitis syndrome'
http://purl.obolibrary.org/obo/MONDO_0021209
heart neoplasm
http://purl.obolibrary.org/obo/GARD_0002619 EquivalentTo 'heart neoplasm'
'heart neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001339
http://purl.obolibrary.org/obo/MONDO_0011888
immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
http://purl.obolibrary.org/obo/GARD_0010311 EquivalentTo 'immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency'
http://purl.obolibrary.org/obo/MONDO_0011882
skin fragility-woolly hair-palmoplantar keratoderma syndrome
http://purl.obolibrary.org/obo/MESH_C564359 EquivalentTo 'skin fragility-woolly hair-palmoplantar keratoderma syndrome'
http://purl.obolibrary.org/obo/MONDO_0011885
tubulointerstitial nephritis and uveitis syndrome
http://purl.obolibrary.org/obo/GARD_0009252 EquivalentTo 'tubulointerstitial nephritis and uveitis syndrome'
http://purl.obolibrary.org/obo/MONDO_0021221
vestibulocochlear nerve neoplasm
'vestibulocochlear nerve neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_387891008
http://purl.obolibrary.org/obo/MONDO_0021223
digestive system neoplasm
'digestive system neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008549
http://purl.obolibrary.org/obo/MONDO_0011899
Noonan syndrome-like disorder with loose anagen hair
'Noonan syndrome-like disorder with loose anagen hair' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/GARD_0010719 EquivalentTo 'Noonan syndrome-like disorder with loose anagen hair'
http://purl.obolibrary.org/obo/MONDO_0011896
Parkinson disease 11, autosomal dominant, susceptibility to
http://purl.obolibrary.org/obo/MESH_C564345 EquivalentTo 'Parkinson disease 11, autosomal dominant, susceptibility to'
http://purl.obolibrary.org/obo/MONDO_0021227
adrenal gland neoplasm
'adrenal gland neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003850
http://purl.obolibrary.org/obo/MONDO_0021228
brainstem neoplasm
'brainstem neoplasm' EquivalentTo http://www.orpha.net/ORDO/Orphanet_36414
http://purl.obolibrary.org/obo/MONDO_0021218
placenta neoplasm
http://purl.obolibrary.org/obo/GARD_0007403 EquivalentTo 'placenta neoplasm'
http://purl.obolibrary.org/obo/MONDO_0021240
tongue neoplasm
'tongue neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003871
'tongue neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_126778001
http://purl.obolibrary.org/obo/MONDO_0021241
buccal mucosa neoplasm
'buccal mucosa neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_126802007
http://purl.obolibrary.org/obo/MONDO_0021242
sublingual gland neoplasm
http://purl.obolibrary.org/obo/MESH_D013362 EquivalentTo 'sublingual gland neoplasm'
'sublingual gland neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001430
'sublingual gland neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_126790004
http://purl.obolibrary.org/obo/MONDO_0021243
parotid gland neoplasm
'parotid gland neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003873
'parotid gland neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_126788000
http://purl.obolibrary.org/obo/MONDO_0021244
submandibular gland neoplasm
'submandibular gland neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001853
http://purl.obolibrary.org/obo/MESH_D013365 EquivalentTo 'submandibular gland neoplasm'
'submandibular gland neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254464000
http://purl.obolibrary.org/obo/MONDO_0021245
oral cavity neoplasm
'oral cavity neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003868
http://purl.obolibrary.org/obo/MONDO_0021249
lip neoplasm
'lip neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_126770008
http://purl.obolibrary.org/obo/MONDO_0021231
retina neoplasm
'retina neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000509
http://purl.obolibrary.org/obo/MONDO_0021235
external ear neoplasm
'external ear neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_277155005
http://purl.obolibrary.org/obo/MONDO_0021239
urethra neoplasm
'urethra neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003846
http://purl.obolibrary.org/obo/MONDO_0021254
corpus uteri neoplasm
'corpus uteri neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_126909004
http://purl.obolibrary.org/obo/MONDO_0021250
tonsil neoplasm
'tonsil neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_127227003
http://purl.obolibrary.org/obo/MONDO_0021097
intraductal breast papilloma
'intraductal breast papilloma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000306
http://purl.obolibrary.org/obo/MONDO_0021091
papillary cystadenoma
http://purl.obolibrary.org/obo/MESH_D018292 EquivalentTo 'papillary cystadenoma'
http://purl.obolibrary.org/obo/MONDO_0011706
Kufor-Rakeb syndrome
http://purl.obolibrary.org/obo/GARD_0009174 EquivalentTo 'Kufor-Rakeb syndrome'
http://purl.obolibrary.org/obo/MONDO_0011707
familial dyskinesia and facial myokymia
http://purl.obolibrary.org/obo/MESH_C564676 EquivalentTo 'familial dyskinesia and facial myokymia'
http://purl.obolibrary.org/obo/GARD_0012722 EquivalentTo 'familial dyskinesia and facial myokymia'
http://purl.obolibrary.org/obo/MONDO_0011719
gastrointestinal stromal tumor
http://purl.obolibrary.org/obo/GARD_0008598 EquivalentTo 'gastrointestinal stromal tumor'
http://purl.obolibrary.org/obo/MONDO_0011717
hyperinsulinism-hyperammonemia syndrome
'hyperinsulinism-hyperammonemia syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C131832
http://purl.obolibrary.org/obo/MONDO_0011728
blepharospasm
http://purl.obolibrary.org/obo/GARD_0005909 EquivalentTo 'blepharospasm'
http://purl.obolibrary.org/obo/MONDO_0011720
spermatogenic failure 3
http://purl.obolibrary.org/obo/MESH_C564665 EquivalentTo 'spermatogenic failure 3'
http://purl.obolibrary.org/obo/MONDO_0011733
PSMNSB
http://purl.obolibrary.org/obo/GARD_0010195 EquivalentTo 'PSMNSB'
http://purl.obolibrary.org/obo/MONDO_0011730
Fumaric aciduria
http://purl.obolibrary.org/obo/GARD_0006476 EquivalentTo 'Fumaric aciduria'
http://purl.obolibrary.org/obo/MONDO_0011743
Alzheimer disease 4
'Alzheimer disease 4' SubClassOf 'early-onset autosomal dominant Alzheimer disease'
http://purl.obolibrary.org/obo/GARD_0009469 EquivalentTo 'Alzheimer disease 4'
'Alzheimer disease 4' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C123413
'Alzheimer disease 4' SubClassOf 'early-onset autosomal dominant Alzheimer disease'
http://purl.obolibrary.org/obo/MONDO_0011740
Carney-Stratakis syndrome
http://purl.obolibrary.org/obo/GARD_0010643 EquivalentTo 'Carney-Stratakis syndrome'
http://purl.obolibrary.org/obo/MONDO_0011757
brachydactyly type A1B
http://purl.obolibrary.org/obo/MESH_C564635 EquivalentTo 'brachydactyly type A1B'
http://purl.obolibrary.org/obo/MONDO_0011758
Hurler syndrome
http://purl.obolibrary.org/obo/GARD_0012559 EquivalentTo 'Hurler syndrome'
http://purl.obolibrary.org/obo/MONDO_0011755
SLSN3
http://purl.obolibrary.org/obo/MESH_C564637 EquivalentTo 'SLSN3'
http://purl.obolibrary.org/obo/MONDO_0011759
Hurler-Scheie syndrome
http://purl.obolibrary.org/obo/GARD_0012560 EquivalentTo 'Hurler-Scheie syndrome'
http://purl.obolibrary.org/obo/MONDO_0011750
insulinoma tumor suppressor gene locus
'insulinoma tumor suppressor gene locus' SubClassOf 'inherited genetic disease'
http://purl.obolibrary.org/obo/MONDO_0011769
familial aortic dissection
http://purl.obolibrary.org/obo/GARD_0001654 EquivalentTo 'familial aortic dissection'
http://purl.obolibrary.org/obo/MONDO_0011765
multiple epiphyseal dysplasia type 5
http://purl.obolibrary.org/obo/GARD_0009794 EquivalentTo 'multiple epiphyseal dysplasia type 5'
http://purl.obolibrary.org/obo/MONDO_0021100
breast neoplasm
'breast neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003869
http://purl.obolibrary.org/obo/MONDO_0021102
prostate phyllodes tumor
http://purl.obolibrary.org/obo/GARD_0009404 EquivalentTo 'prostate phyllodes tumor'
http://purl.obolibrary.org/obo/MONDO_0011772
B4GALT1-CDG
http://purl.obolibrary.org/obo/GARD_0009841 EquivalentTo 'B4GALT1-CDG'
http://purl.obolibrary.org/obo/MONDO_0011770
aortic aneurysm, familial thoracic 2
http://purl.obolibrary.org/obo/MESH_C564627 EquivalentTo 'aortic aneurysm, familial thoracic 2'
http://purl.obolibrary.org/obo/MONDO_0011776
CINCA syndrome
http://purl.obolibrary.org/obo/GARD_0001356 EquivalentTo 'CINCA syndrome'
http://purl.obolibrary.org/obo/MONDO_0011773
anauxetic dysplasia
http://purl.obolibrary.org/obo/GARD_0009657 EquivalentTo 'anauxetic dysplasia'
http://purl.obolibrary.org/obo/MONDO_0011783
ALG12-CDG
http://purl.obolibrary.org/obo/GARD_0009833 EquivalentTo 'ALG12-CDG'
'ALG12-CDG' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C126873
http://purl.obolibrary.org/obo/MONDO_0011781
spinocerebellar ataxia type 17
http://purl.obolibrary.org/obo/GARD_0010469 EquivalentTo 'spinocerebellar ataxia type 17'
http://purl.obolibrary.org/obo/MONDO_0011787
autosomal recessive limb-girdle muscular dystrophy type 2I
'autosomal recessive limb-girdle muscular dystrophy type 2I' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C126739
http://purl.obolibrary.org/obo/GARD_0012533 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2I'
http://purl.obolibrary.org/obo/MONDO_0011785
hereditary spastic paraplegia 19
http://purl.obolibrary.org/obo/GARD_0009588 EquivalentTo 'hereditary spastic paraplegia 19'
http://purl.obolibrary.org/obo/MONDO_0021121
hemangioendothelioma
http://purl.obolibrary.org/obo/MESH_D006390 EquivalentTo 'hemangioendothelioma'
http://purl.obolibrary.org/obo/MONDO_0021124
female infertility
'female infertility' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008560
http://purl.obolibrary.org/obo/MONDO_0011798
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
'Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration' EquivalentTo http://www.orpha.net/ORDO/Orphanet_157855
http://purl.obolibrary.org/obo/MONDO_0011795
anonychia-microcephaly syndrome
'anonychia-microcephaly syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'anonychia-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0011796
PEPS
http://purl.obolibrary.org/obo/MESH_C564605 EquivalentTo 'PEPS'
http://purl.obolibrary.org/obo/MONDO_0021111
ureter neoplasm
'ureter neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003844
http://purl.obolibrary.org/obo/MONDO_0021117
lung neoplasm
'lung neoplasm' SubClassOf 'lung disease'
'lung neoplasm' SubClassOf 'lung disease'
http://purl.obolibrary.org/obo/MESH_D008175 EquivalentTo 'lung neoplasm'
http://purl.obolibrary.org/obo/MONDO_0021146
headache disorder
'headache disorder' SubClassOf 'brain disease'
'headache disorder' SubClassOf 'central nervous system disease'
http://purl.obolibrary.org/obo/MONDO_0021156
hypophysitis
'hypophysitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C12399
http://purl.obolibrary.org/obo/MONDO_0021150
genetic
'genetic' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0004420
http://purl.obolibrary.org/obo/MONDO_0021187
hyperlipidemia (disease)
'hyperlipidemia (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003774
http://purl.obolibrary.org/obo/MONDO_0021178
injury
'injury' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3671
http://purl.obolibrary.org/obo/MESH_D014947 EquivalentTo 'injury'
'injury' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0000546
http://purl.obolibrary.org/obo/MONDO_0021170
obsolete amyotonia congenita
'obsolete amyotonia congenita' EquivalentTo http://purl.obolibrary.org/obo/OMIM_205000
http://purl.obolibrary.org/obo/MONDO_0021190
DNA repair disease
'DNA repair disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008499
http://purl.obolibrary.org/obo/MONDO_0021192
odontogenic neoplasm
http://purl.obolibrary.org/obo/MESH_D009808 EquivalentTo 'odontogenic neoplasm'
http://purl.obolibrary.org/obo/MONDO_0011603
GNE myopathy
http://purl.obolibrary.org/obo/GARD_0009493 EquivalentTo 'GNE myopathy'
http://purl.obolibrary.org/obo/MONDO_0011604
Spondylo-ocular syndrome
'Spondylo-ocular syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0011601
neonatal intrahepatic cholestasis due to citrin deficiency
http://purl.obolibrary.org/obo/GARD_0010214 EquivalentTo 'neonatal intrahepatic cholestasis due to citrin deficiency'
http://purl.obolibrary.org/obo/MONDO_0011605
generalized basaloid follicular hamartoma syndrome
http://purl.obolibrary.org/obo/MESH_C565284 EquivalentTo 'generalized basaloid follicular hamartoma syndrome'
http://purl.obolibrary.org/obo/MONDO_0011614
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
http://purl.obolibrary.org/obo/GARD_0002712 EquivalentTo '3-hydroxy-3-methylglutaryl-CoA synthase deficiency'
http://purl.obolibrary.org/obo/MONDO_0011629
MOGS-CDG
http://purl.obolibrary.org/obo/GARD_0010767 EquivalentTo 'MOGS-CDG'
http://purl.obolibrary.org/obo/MONDO_0011622
nephrolithiasis, Uric acid, susceptibility to
'nephrolithiasis, Uric acid, susceptibility to' EquivalentTo http://www.orpha.net/ORDO/Orphanet_371324
http://purl.obolibrary.org/obo/MONDO_0011635
MNG3
http://purl.obolibrary.org/obo/MESH_C565260 EquivalentTo 'MNG3'
http://purl.obolibrary.org/obo/MONDO_0011638
neuroferritinopathy
http://purl.obolibrary.org/obo/GARD_0010686 EquivalentTo 'neuroferritinopathy'
http://purl.obolibrary.org/obo/MONDO_0011644
pars planitis
http://purl.obolibrary.org/obo/GARD_0007339 EquivalentTo 'pars planitis'
http://purl.obolibrary.org/obo/MONDO_0011659
HTX3
http://purl.obolibrary.org/obo/MESH_C565237 EquivalentTo 'HTX3'
http://purl.obolibrary.org/obo/MONDO_0011656
PDB4
http://purl.obolibrary.org/obo/MESH_C565240 EquivalentTo 'PDB4'
http://purl.obolibrary.org/obo/MONDO_0011657
autosomal dominant nonsyndromic deafness 24
http://purl.obolibrary.org/obo/GARD_0009166 EquivalentTo 'autosomal dominant nonsyndromic deafness 24'
http://purl.obolibrary.org/obo/MONDO_0011655
alveolar soft part sarcoma (disease)
http://purl.obolibrary.org/obo/GARD_0005654 EquivalentTo 'alveolar soft part sarcoma (disease)'
http://purl.obolibrary.org/obo/MONDO_0011652
monosomy 22q13
http://purl.obolibrary.org/obo/GARD_0010130 EquivalentTo 'monosomy 22q13'
http://purl.obolibrary.org/obo/MONDO_0011662
pathological gambling
'pathological gambling' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001926
http://purl.obolibrary.org/obo/MONDO_0011660
autosomal dominant nonsyndromic deafness 22
http://purl.obolibrary.org/obo/GARD_0009167 EquivalentTo 'autosomal dominant nonsyndromic deafness 22'
http://purl.obolibrary.org/obo/MONDO_0021005
Aarskog-Scott-like syndrome
'Aarskog-Scott-like syndrome' SubClassOf 'syndromic intellectual disability'
'Aarskog-Scott-like syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_915
'Aarskog-Scott-like syndrome' SubClassOf 'malformation syndrome with short stature'
'Aarskog-Scott-like syndrome' SubClassOf 'syndromic urogenital tract malformation'
http://purl.obolibrary.org/obo/MONDO_0011670
Ehlers-Danlos syndrome due to tenascin-X deficiency
http://purl.obolibrary.org/obo/GARD_0008507 EquivalentTo 'Ehlers-Danlos syndrome due to tenascin-X deficiency'
http://purl.obolibrary.org/obo/MONDO_0011676
PHACE syndrome
'PHACE syndrome' SubClassOf 'rare genetic epilepsy'
'PHACE syndrome' SubClassOf 'brain neoplasm'
'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/GARD_0008338 EquivalentTo 'PHACE syndrome'
http://purl.obolibrary.org/obo/MONDO_0011674
Charcot-Marie-tooth disease dominant intermediate b
http://purl.obolibrary.org/obo/GARD_0012438 EquivalentTo 'Charcot-Marie-tooth disease dominant intermediate b'
http://purl.obolibrary.org/obo/MONDO_0011675
Charcot-Marie-tooth disease dominant intermediate a
http://purl.obolibrary.org/obo/MESH_C564702 EquivalentTo 'Charcot-Marie-tooth disease dominant intermediate a'
http://purl.obolibrary.org/obo/GARD_0012437 EquivalentTo 'Charcot-Marie-tooth disease dominant intermediate a'
http://purl.obolibrary.org/obo/MONDO_0011684
vitiligo-associated multiple autoimmune disease susceptibility 1
'vitiligo-associated multiple autoimmune disease susceptibility 1' EquivalentTo http://www.orpha.net/ORDO/Orphanet_139184
http://purl.obolibrary.org/obo/SCTID_34020007
'streptococcal pneumonia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_34020007
http://purl.obolibrary.org/obo/MONDO_0011686
DNA ligase IV deficiency
'DNA ligase IV deficiency' SubClassOf 'rare genetic developmental defect during embryogenesis'
'DNA ligase IV deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0021021
craniodiaphyseal dysplasia, autosomal dominant
http://purl.obolibrary.org/obo/GARD_0000249 EquivalentTo 'craniodiaphyseal dysplasia, autosomal dominant'
http://purl.obolibrary.org/obo/MONDO_0021022
hereditary hyperekplexia
http://purl.obolibrary.org/obo/GARD_0003129 EquivalentTo 'hereditary hyperekplexia'
http://purl.obolibrary.org/obo/MONDO_0011694
spinocerebellar ataxia type 15/16
http://purl.obolibrary.org/obo/MESH_C564685 EquivalentTo 'spinocerebellar ataxia type 15/16'
http://purl.obolibrary.org/obo/GARD_0010477 EquivalentTo 'spinocerebellar ataxia type 15/16'
http://purl.obolibrary.org/obo/MONDO_0011692
IBGC2
http://purl.obolibrary.org/obo/MESH_C537657 EquivalentTo 'IBGC2'
http://purl.obolibrary.org/obo/MONDO_0011693
glaucoma, normal tension, susceptibility to
'glaucoma, normal tension, susceptibility to' EquivalentTo http://www.orpha.net/ORDO/Orphanet_123996
http://purl.obolibrary.org/obo/MONDO_0011690
Camurati-Engelmann disease, type 2
http://purl.obolibrary.org/obo/GARD_0008748 EquivalentTo 'Camurati-Engelmann disease, type 2'
http://purl.obolibrary.org/obo/MONDO_0021018
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
http://purl.obolibrary.org/obo/GARD_0012528 EquivalentTo 'autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)'
http://purl.obolibrary.org/obo/MONDO_0021019
X-linked recessive ocular albinism
http://purl.obolibrary.org/obo/GARD_0008471 EquivalentTo 'X-linked recessive ocular albinism'
http://purl.obolibrary.org/obo/MONDO_0021040
pancreatic neoplasm
'pancreatic neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003860
http://purl.obolibrary.org/obo/MONDO_0021064
jugulotympanic paraganglioma
'jugulotympanic paraganglioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0021060
RASopathy
'RASopathy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001502
http://purl.obolibrary.org/obo/MONDO_0021061
neurofibromatosis
'neurofibromatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042983
http://purl.obolibrary.org/obo/GARD_0010420 EquivalentTo 'neurofibromatosis'
http://purl.obolibrary.org/obo/MONDO_0021053
carotid body paraganglioma
'carotid body paraganglioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0021055
classic familial adenomatous polyposis
http://purl.obolibrary.org/obo/GARD_0006408 EquivalentTo 'classic familial adenomatous polyposis'
http://purl.obolibrary.org/obo/MONDO_0021050
vaginal neoplasm
'vaginal neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001447
http://purl.obolibrary.org/obo/MONDO_0021080
blood vessel neoplasm
'blood vessel neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_126736007
http://purl.obolibrary.org/obo/MONDO_0021081
anti-NMDA receptor encephalitis
http://purl.obolibrary.org/obo/MESH_D060426 EquivalentTo 'anti-NMDA receptor encephalitis'
http://purl.obolibrary.org/obo/MONDO_0021085
gastric neoplasm
'gastric neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003897
http://purl.obolibrary.org/obo/MONDO_0021077
cystic neoplasm
'cystic neoplasm' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/PATO_0001673
http://purl.obolibrary.org/obo/MONDO_0021071
laryngeal neoplasm
'laryngeal neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003817
http://purl.obolibrary.org/obo/MONDO_0021072
sympathetic paraganglioma
http://purl.obolibrary.org/obo/MESH_C531777 EquivalentTo 'sympathetic paraganglioma'
http://purl.obolibrary.org/obo/MONDO_0021073
paraneoplastic syndrome
http://purl.obolibrary.org/obo/MESH_D010257 EquivalentTo 'paraneoplastic syndrome'
http://purl.obolibrary.org/obo/MONDO_0021074
precancerous condition
http://purl.obolibrary.org/obo/MESH_D011230 EquivalentTo 'precancerous condition'
http://purl.obolibrary.org/obo/MONDO_0011504
NDE1-related microhydranencephaly
http://purl.obolibrary.org/obo/GARD_0010216 EquivalentTo 'NDE1-related microhydranencephaly'
http://purl.obolibrary.org/obo/MONDO_0011503
cortisone reductase deficiency 1
'cortisone reductase deficiency 1' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C131849
http://purl.obolibrary.org/obo/MONDO_0011514
tricuspid atresia (disease)
http://purl.obolibrary.org/obo/GARD_0005274 EquivalentTo 'tricuspid atresia (disease)'
http://purl.obolibrary.org/obo/MONDO_0011519
autosomal dominant nonsyndromic deafness 23
http://purl.obolibrary.org/obo/GARD_0001708 EquivalentTo 'autosomal dominant nonsyndromic deafness 23'
http://purl.obolibrary.org/obo/MONDO_0011517
Pseudohyperaldosteronism type 2
'Pseudohyperaldosteronism type 2' SubClassOf 'hypertension, pregnancy-induced'
http://purl.obolibrary.org/obo/MONDO_0011518
Wiedemann-Steiner syndrome
http://purl.obolibrary.org/obo/MESH_C536704 EquivalentTo 'Wiedemann-Steiner syndrome'
http://purl.obolibrary.org/obo/MONDO_0011512
Brooke-Spiegler syndrome
http://purl.obolibrary.org/obo/GARD_0010179 EquivalentTo 'Brooke-Spiegler syndrome'
http://purl.obolibrary.org/obo/MONDO_0011527
Charcot-Marie-tooth disease type 4E
http://purl.obolibrary.org/obo/GARD_0009203 EquivalentTo 'Charcot-Marie-tooth disease type 4E'
http://purl.obolibrary.org/obo/MONDO_0011524
Dianzani autoimmune lymphoproliferative disease
http://purl.obolibrary.org/obo/GARD_0009797 EquivalentTo 'Dianzani autoimmune lymphoproliferative disease'
http://purl.obolibrary.org/obo/MONDO_0011529
spinocerebellar ataxia type 13
http://purl.obolibrary.org/obo/MESH_C537195 EquivalentTo 'spinocerebellar ataxia type 13'
http://purl.obolibrary.org/obo/GARD_0009611 EquivalentTo 'spinocerebellar ataxia type 13'
http://purl.obolibrary.org/obo/MONDO_0011522
hereditary spastic paraplegia 14
http://purl.obolibrary.org/obo/GARD_0009589 EquivalentTo 'hereditary spastic paraplegia 14'
http://purl.obolibrary.org/obo/MONDO_0011536
OPA4
http://purl.obolibrary.org/obo/MESH_C565343 EquivalentTo 'OPA4'
http://purl.obolibrary.org/obo/MONDO_0011539
nemaline myopathy 5
http://purl.obolibrary.org/obo/GARD_0008334 EquivalentTo 'nemaline myopathy 5'
http://purl.obolibrary.org/obo/MONDO_0011534
Charcot-Marie-tooth disease type 4G
http://purl.obolibrary.org/obo/GARD_0010132 EquivalentTo 'Charcot-Marie-tooth disease type 4G'
http://purl.obolibrary.org/obo/MONDO_0011532
hereditary spastic paraplegia 13
http://purl.obolibrary.org/obo/GARD_0009616 EquivalentTo 'hereditary spastic paraplegia 13'
http://purl.obolibrary.org/obo/MONDO_0011547
cataract 31 multiple types
http://purl.obolibrary.org/obo/GARD_0010227 EquivalentTo 'cataract 31 multiple types'
http://purl.obolibrary.org/obo/MONDO_0011540
spinocerebellar ataxia type 14
http://purl.obolibrary.org/obo/MESH_C537196 EquivalentTo 'spinocerebellar ataxia type 14'
http://purl.obolibrary.org/obo/GARD_0009867 EquivalentTo 'spinocerebellar ataxia type 14'
http://purl.obolibrary.org/obo/MONDO_0011544
paragangliomas 3
'paragangliomas 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0011543
BRCA3
http://purl.obolibrary.org/obo/MESH_C565336 EquivalentTo 'BRCA3'
http://purl.obolibrary.org/obo/MONDO_0011551
autosomal recessive dopa-responsive dystonia
http://purl.obolibrary.org/obo/GARD_0001902 EquivalentTo 'autosomal recessive dopa-responsive dystonia'
http://purl.obolibrary.org/obo/MONDO_0011555
radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
http://purl.obolibrary.org/obo/MESH_C565328 EquivalentTo 'radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome'
http://purl.obolibrary.org/obo/MONDO_0011556
BCC1
http://purl.obolibrary.org/obo/GARD_0009303 EquivalentTo 'BCC1'
http://purl.obolibrary.org/obo/MONDO_0011563
GINGF2
http://purl.obolibrary.org/obo/GARD_0002474 EquivalentTo 'GINGF2'
http://purl.obolibrary.org/obo/MONDO_0011565
metabolic syndrome X
http://purl.obolibrary.org/obo/GARD_0009226 EquivalentTo 'metabolic syndrome X'
http://purl.obolibrary.org/obo/MONDO_0011579
late-onset retinal degenration
http://purl.obolibrary.org/obo/GARD_0004357 EquivalentTo 'late-onset retinal degenration'
http://purl.obolibrary.org/obo/MONDO_0011576
familial hyperaldosteronism type II
http://purl.obolibrary.org/obo/GARD_0002789 EquivalentTo 'familial hyperaldosteronism type II'
http://purl.obolibrary.org/obo/MONDO_0011585
autosomal recessive distal spinal muscular atrophy 2
http://purl.obolibrary.org/obo/GARD_0010133 EquivalentTo 'autosomal recessive distal spinal muscular atrophy 2'
http://purl.obolibrary.org/obo/MONDO_0011586
OTSC2
http://purl.obolibrary.org/obo/MESH_C565302 EquivalentTo 'OTSC2'
http://purl.obolibrary.org/obo/MONDO_0011595
nonsyndromic congenital nail disorder 7
http://purl.obolibrary.org/obo/GARD_0009761 EquivalentTo 'nonsyndromic congenital nail disorder 7'
http://purl.obolibrary.org/obo/MONDO_0011592
EVR3
http://purl.obolibrary.org/obo/MESH_C565297 EquivalentTo 'EVR3'
http://purl.obolibrary.org/obo/SCTID_36010004
'cranial meningocele' EquivalentTo http://purl.obolibrary.org/obo/SCTID_36010004
http://purl.obolibrary.org/obo/MONDO_0011405
poikiloderma with neutropenia
http://purl.obolibrary.org/obo/GARD_0004085 EquivalentTo 'poikiloderma with neutropenia'
http://purl.obolibrary.org/obo/MONDO_0011404
Caronte
'Caronte' EquivalentTo http://www.orpha.net/ORDO/Orphanet_119829
http://purl.obolibrary.org/obo/MONDO_0011408
hereditary spastic paraplegia 10
http://purl.obolibrary.org/obo/GARD_0009590 EquivalentTo 'hereditary spastic paraplegia 10'
http://purl.obolibrary.org/obo/MONDO_0011401
Alzheimer disease without Neurofibrillary tangles
http://purl.obolibrary.org/obo/GARD_0007190 EquivalentTo 'Alzheimer disease without Neurofibrillary tangles'
http://purl.obolibrary.org/obo/MONDO_0011402
congenital cataracts-facial dysmorphism-neuropathy syndrome
'congenital cataracts-facial dysmorphism-neuropathy syndrome' SubClassOf 'rare genetic syndromic intellectual disability'
'congenital cataracts-facial dysmorphism-neuropathy syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
'congenital cataracts-facial dysmorphism-neuropathy syndrome' SubClassOf 'rare genetic syndromic intellectual disability'
'congenital cataracts-facial dysmorphism-neuropathy syndrome' SubClassOf 'partial duplication of the short arm of chromosome 16'
'congenital cataracts-facial dysmorphism-neuropathy syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
http://purl.obolibrary.org/obo/MONDO_0011414
Peters anomaly (disease)
http://purl.obolibrary.org/obo/GARD_0007377 EquivalentTo 'Peters anomaly (disease)'
http://purl.obolibrary.org/obo/MONDO_0011411
Chudley-McCullough syndrome
http://purl.obolibrary.org/obo/GARD_0000086 EquivalentTo 'Chudley-McCullough syndrome'
http://purl.obolibrary.org/obo/MONDO_0011420
short stature due to partial GHR deficiency
'short stature due to partial GHR deficiency' SubClassOf 'rare genetic adrenal disease'
http://purl.obolibrary.org/obo/MESH_C565805 EquivalentTo 'short stature due to partial GHR deficiency'
'short stature due to partial GHR deficiency' SubClassOf 'pituitary dwarfism'
http://purl.obolibrary.org/obo/MONDO_0011423
autosomal recessive limb-girdle muscular dystrophy type 2E
http://purl.obolibrary.org/obo/GARD_0003851 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2E'
http://purl.obolibrary.org/obo/MONDO_0011439
spinocerebellar ataxia type 12
http://purl.obolibrary.org/obo/GARD_0010476 EquivalentTo 'spinocerebellar ataxia type 12'
http://purl.obolibrary.org/obo/MESH_C565790 EquivalentTo 'spinocerebellar ataxia type 12'
http://purl.obolibrary.org/obo/MONDO_0011436
autosomal recessive distal spinal muscular atrophy 1
http://purl.obolibrary.org/obo/GARD_0008592 EquivalentTo 'autosomal recessive distal spinal muscular atrophy 1'
http://purl.obolibrary.org/obo/MONDO_0011430
pulverulent cataract
http://purl.obolibrary.org/obo/MESH_C565133 EquivalentTo 'pulverulent cataract'
http://purl.obolibrary.org/obo/MONDO_0011435
microcephaly 2, primary, autosomal recessive, with or without cortical malformations
http://purl.obolibrary.org/obo/MESH_C565794 EquivalentTo 'microcephaly 2, primary, autosomal recessive, with or without cortical malformations'
http://purl.obolibrary.org/obo/MONDO_0011448
PPARG-related familial partial lipodystrophy
http://purl.obolibrary.org/obo/GARD_0012600 EquivalentTo 'PPARG-related familial partial lipodystrophy'
http://purl.obolibrary.org/obo/MONDO_0011445
hereditary spastic paraplegia 11
http://purl.obolibrary.org/obo/GARD_0004919 EquivalentTo 'hereditary spastic paraplegia 11'
http://purl.obolibrary.org/obo/MONDO_0011443
febrile seizures, familial, 4
'febrile seizures, familial, 4' EquivalentTo http://www.orpha.net/ORDO/Orphanet_122270
http://purl.obolibrary.org/obo/MONDO_0011452
hypotrichosis 7
http://purl.obolibrary.org/obo/GARD_0008178 EquivalentTo 'hypotrichosis 7'
http://purl.obolibrary.org/obo/MONDO_0011457
ataxia-telangiectasia-like disorder
'ataxia-telangiectasia-like disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0011464
spinocerebellar ataxia type 11
http://purl.obolibrary.org/obo/GARD_0010475 EquivalentTo 'spinocerebellar ataxia type 11'
http://purl.obolibrary.org/obo/MESH_C565772 EquivalentTo 'spinocerebellar ataxia type 11'
http://purl.obolibrary.org/obo/MONDO_0011461
generalized epilepsy with febrile seizures plus, type 2
http://purl.obolibrary.org/obo/MESH_C565810 EquivalentTo 'generalized epilepsy with febrile seizures plus, type 2'
http://purl.obolibrary.org/obo/MONDO_0011462
pyogenic arthritis-pyoderma gangrenosum-acne syndrome
http://purl.obolibrary.org/obo/GARD_0009176 EquivalentTo 'pyogenic arthritis-pyoderma gangrenosum-acne syndrome'
'pyogenic arthritis-pyoderma gangrenosum-acne syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C119055
http://purl.obolibrary.org/obo/MONDO_0011468
hereditary motor and sensory neuropathy, Okinawa type
http://purl.obolibrary.org/obo/GARD_0010131 EquivalentTo 'hereditary motor and sensory neuropathy, Okinawa type'
http://purl.obolibrary.org/obo/MONDO_0011466
distal myopathy, Welander type
http://purl.obolibrary.org/obo/GARD_0005552 EquivalentTo 'distal myopathy, Welander type'
http://purl.obolibrary.org/obo/MONDO_0011474
progressive familial heart block type IB
http://purl.obolibrary.org/obo/GARD_0002610 EquivalentTo 'progressive familial heart block type IB'
http://purl.obolibrary.org/obo/MONDO_0011472
epidermolysis bullosa simplex due to plakophilin deficiency
http://purl.obolibrary.org/obo/GARD_0009705 EquivalentTo 'epidermolysis bullosa simplex due to plakophilin deficiency'
http://purl.obolibrary.org/obo/MONDO_0011476
MHC class I deficiency
http://purl.obolibrary.org/obo/GARD_0008427 EquivalentTo 'MHC class I deficiency'
http://purl.obolibrary.org/obo/MONDO_0011489
hereditary spastic paraplegia 12
http://purl.obolibrary.org/obo/GARD_0009586 EquivalentTo 'hereditary spastic paraplegia 12'
http://purl.obolibrary.org/obo/MONDO_0011481
craniosynostosis, Boston type
http://purl.obolibrary.org/obo/GARD_0005538 EquivalentTo 'craniosynostosis, Boston type'
http://purl.obolibrary.org/obo/MONDO_0011496
mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
'mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MESH_C565740 EquivalentTo 'mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis'
http://purl.obolibrary.org/obo/MONDO_0011497
hereditary North American Indian childhood cirrhosis
http://purl.obolibrary.org/obo/MESH_C565737 EquivalentTo 'hereditary North American Indian childhood cirrhosis'
http://purl.obolibrary.org/obo/MONDO_0006714
coronary aneurysm
http://purl.obolibrary.org/obo/GARD_0006200 EquivalentTo 'coronary aneurysm'
http://purl.obolibrary.org/obo/MONDO_0006720
cystic, mucinous, and serous neoplasm
'cystic, mucinous, and serous neoplasm' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/PATO_0001673
http://purl.obolibrary.org/obo/MONDO_0006738
eccrine acrospiroma
http://purl.obolibrary.org/obo/GARD_0005726 EquivalentTo 'eccrine acrospiroma'
http://purl.obolibrary.org/obo/MONDO_0006730
drug psychosis
http://purl.obolibrary.org/obo/MESH_D011605 EquivalentTo 'drug psychosis'
http://purl.obolibrary.org/obo/MONDO_0006758
female genital tuberculosis
'female genital tuberculosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_74181004
http://purl.obolibrary.org/obo/MONDO_0006751
Erysipelothrix infectious disease
'Erysipelothrix infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_367434002
http://purl.obolibrary.org/obo/MONDO_0006767
gastric antral vascular ectasia
'gastric antral vascular ectasia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_43935004
http://purl.obolibrary.org/obo/GARD_0007877 EquivalentTo 'gastric antral vascular ectasia'
http://purl.obolibrary.org/obo/MONDO_0006774
habitual spontaneous abortion
'habitual spontaneous abortion' EquivalentTo http://purl.obolibrary.org/obo/SCTID_102878001
http://purl.obolibrary.org/obo/MONDO_0016107
myotonic dystrophy
http://purl.obolibrary.org/obo/GARD_0010419 EquivalentTo 'myotonic dystrophy'
http://purl.obolibrary.org/obo/MONDO_0016104
infectious disease with peripheral neuropathy
'infectious disease with peripheral neuropathy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C27589
http://purl.obolibrary.org/obo/MONDO_0016101
neurolymphomatosis
http://purl.obolibrary.org/obo/GARD_0006974 EquivalentTo 'neurolymphomatosis'
http://purl.obolibrary.org/obo/MONDO_0006795
hypersplenism (disease)
'hypersplenism (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34714
http://purl.obolibrary.org/obo/MONDO_0016147
qualitative or quantitative defects of dystrophin
'qualitative or quantitative defects of dystrophin' EquivalentTo 'disease' and ('disease has basis in dysfunction of' some http://purl.obolibrary.org/obo/PR_000006537)
'qualitative or quantitative defects of dystrophin' SubClassOf 'disease has basis in dysfunction of' some http://purl.obolibrary.org/obo/PR_000006537
http://purl.obolibrary.org/obo/MONDO_0016149
qualitative or quantitative defects of merosin
'qualitative or quantitative defects of merosin' SubClassOf 'disease has basis in dysfunction of' some http://purl.obolibrary.org/obo/PR_000009651
'qualitative or quantitative defects of merosin' EquivalentTo 'disease' and ('disease has basis in dysfunction of' some http://purl.obolibrary.org/obo/PR_000009651)
http://purl.obolibrary.org/obo/MONDO_0016144
qualitative or quantitative defects of delta-sarcoglycan
http://purl.obolibrary.org/obo/GARD_0001799 EquivalentTo 'qualitative or quantitative defects of delta-sarcoglycan'
http://purl.obolibrary.org/obo/MONDO_0016145
qualitative or quantitative defects of dysferlin
'qualitative or quantitative defects of dysferlin' EquivalentTo 'disease' and ('disease has basis in dysfunction of' some http://purl.obolibrary.org/obo/PR_000006786)
http://purl.obolibrary.org/obo/GARD_0002031 EquivalentTo 'qualitative or quantitative defects of dysferlin'
http://purl.obolibrary.org/obo/GARD_0002003 EquivalentTo 'qualitative or quantitative defects of dysferlin'
'qualitative or quantitative defects of dysferlin' SubClassOf 'disease has basis in dysfunction of' some http://purl.obolibrary.org/obo/PR_000006786
http://purl.obolibrary.org/obo/MONDO_0016142
qualitative or quantitative defects of beta-sarcoglycan
http://purl.obolibrary.org/obo/GARD_0000870 EquivalentTo 'qualitative or quantitative defects of beta-sarcoglycan'
http://purl.obolibrary.org/obo/MONDO_0016154
qualitative or quantitative defects of myotubularin
'qualitative or quantitative defects of myotubularin' SubClassOf 'disease has basis in dysfunction of' some http://purl.obolibrary.org/obo/PR_000010730
'qualitative or quantitative defects of myotubularin' EquivalentTo 'disease' and ('disease has basis in dysfunction of' some http://purl.obolibrary.org/obo/PR_000010730)
http://purl.obolibrary.org/obo/MONDO_0016157
qualitative or quantitative defects of fukutin
'qualitative or quantitative defects of fukutin' EquivalentTo 'disease' and ('disease has basis in dysfunction of' some http://purl.obolibrary.org/obo/PR_000007547)
'qualitative or quantitative defects of fukutin' SubClassOf 'disease has basis in dysfunction of' some http://purl.obolibrary.org/obo/PR_000007547
http://purl.obolibrary.org/obo/MONDO_0016150
qualitative or quantitative defects of integrin alpha-7
'qualitative or quantitative defects of integrin alpha-7' SubClassOf 'disease has basis in dysfunction of' some http://purl.obolibrary.org/obo/PR_000009132
'qualitative or quantitative defects of integrin alpha-7' EquivalentTo 'disease' and ('disease has basis in dysfunction of' some http://purl.obolibrary.org/obo/PR_000009132)
http://purl.obolibrary.org/obo/MONDO_0016151
qualitative or quantitative defects of perlecan
'qualitative or quantitative defects of perlecan' EquivalentTo 'disease' and ('disease has basis in dysfunction of' some http://purl.obolibrary.org/obo/PR_000008826)
'qualitative or quantitative defects of perlecan' SubClassOf 'disease has basis in dysfunction of' some http://purl.obolibrary.org/obo/PR_000008826
http://purl.obolibrary.org/obo/MONDO_0016153
qualitative or quantitative defects of TRIM32
'qualitative or quantitative defects of TRIM32' SubClassOf 'disease has basis in dysfunction of' some http://purl.obolibrary.org/obo/PR_000016654
'qualitative or quantitative defects of TRIM32' EquivalentTo 'disease' and ('disease has basis in dysfunction of' some http://purl.obolibrary.org/obo/PR_000016654)
http://purl.obolibrary.org/obo/MONDO_0016191
qualitative or quantitative defects of titin
'qualitative or quantitative defects of titin' EquivalentTo 'disease' and ('disease has basis in dysfunction of' some http://purl.obolibrary.org/obo/PR_000016798)
'qualitative or quantitative defects of titin' SubClassOf 'disease has basis in dysfunction of' some http://purl.obolibrary.org/obo/PR_000016798
http://purl.obolibrary.org/obo/MONDO_0016192
qualitative or quantitative defects of telethonin
'qualitative or quantitative defects of telethonin' EquivalentTo 'disease' and ('disease has basis in dysfunction of' some http://purl.obolibrary.org/obo/PR_000016156)
'qualitative or quantitative defects of telethonin' SubClassOf 'disease has basis in dysfunction of' some http://purl.obolibrary.org/obo/PR_000016156
http://purl.obolibrary.org/obo/MONDO_0016187
qualitative or quantitative defects of desmin
'qualitative or quantitative defects of desmin' SubClassOf 'disease has basis in dysfunction of' some http://purl.obolibrary.org/obo/PR_000006427
'qualitative or quantitative defects of desmin' EquivalentTo 'disease' and ('disease has basis in dysfunction of' some http://purl.obolibrary.org/obo/PR_000006427)
http://purl.obolibrary.org/obo/MONDO_0016196
qualitative or quantitative defects of emerin
'qualitative or quantitative defects of emerin' SubClassOf 'disease has basis in dysfunction of' some http://purl.obolibrary.org/obo/PR_000007050
'qualitative or quantitative defects of emerin' EquivalentTo 'disease' and ('disease has basis in dysfunction of' some http://purl.obolibrary.org/obo/PR_000007050)
http://purl.obolibrary.org/obo/MONDO_0006804
inflammatory breast carcinoma
http://purl.obolibrary.org/obo/GARD_0006784 EquivalentTo 'inflammatory breast carcinoma'
http://purl.obolibrary.org/obo/MONDO_0006807
intestinal perforation
'intestinal perforation' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C39611
http://purl.obolibrary.org/obo/MONDO_0006813
intradermal nevus
'intradermal nevus' EquivalentTo http://purl.obolibrary.org/obo/SCTID_302838006
http://purl.obolibrary.org/obo/MONDO_0006810
intracranial hypertension
'intracranial hypertension' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0006600
pigmentation disease
'pigmentation disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000755
http://purl.obolibrary.org/obo/MESH_D010859 EquivalentTo 'pigmentation disease'
http://purl.obolibrary.org/obo/DOID_10123 EquivalentTo 'pigmentation disease'
'pigmentation disease' SubClassOf 'skin disease'
'pigmentation disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_414032001
http://purl.obolibrary.org/obo/MONDO_0006639
adrenal cortex carcinoma
http://purl.obolibrary.org/obo/GARD_0000558 EquivalentTo 'adrenal cortex carcinoma'
http://purl.obolibrary.org/obo/MONDO_0006648
anterior compartment syndrome
'anterior compartment syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_12694001
http://purl.obolibrary.org/obo/MONDO_0006651
anterior uveitis (disease)
http://purl.obolibrary.org/obo/GARD_0010941 EquivalentTo 'anterior uveitis (disease)'
http://purl.obolibrary.org/obo/MONDO_0006668
bacterial conjunctivitis
'bacterial conjunctivitis' SubClassOf 'infectious disease of the nervous system'
'bacterial conjunctivitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043885
http://purl.obolibrary.org/obo/MONDO_0006663
asphyxia neonatorum
'asphyxia neonatorum' EquivalentTo http://www.orpha.net/ORDO/Orphanet_137577
http://purl.obolibrary.org/obo/MONDO_0006676
beriberi
'beriberi' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34418
http://purl.obolibrary.org/obo/MONDO_0006681
Borrelia infectious disease
http://purl.obolibrary.org/obo/MESH_D001899 EquivalentTo 'Borrelia infectious disease'
http://purl.obolibrary.org/obo/MONDO_0006682
brachial plexus neuritis
http://purl.obolibrary.org/obo/GARD_0004228 EquivalentTo 'brachial plexus neuritis'
http://purl.obolibrary.org/obo/MONDO_0006680
blue nevus
'blue nevus' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254806009
http://purl.obolibrary.org/obo/GARD_0008452 EquivalentTo 'blue nevus'
http://purl.obolibrary.org/obo/MONDO_0016004
aminopterin/methotrexate embryofetopathy
http://purl.obolibrary.org/obo/GARD_0002294 EquivalentTo 'aminopterin/methotrexate embryofetopathy'
'aminopterin/methotrexate embryofetopathy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C98928
http://purl.obolibrary.org/obo/MONDO_0016005
indomethacin embryofetopathy
http://purl.obolibrary.org/obo/GARD_0002994 EquivalentTo 'indomethacin embryofetopathy'
http://purl.obolibrary.org/obo/MONDO_0016006
Cockayne syndrome
http://purl.obolibrary.org/obo/GARD_0006122 EquivalentTo 'Cockayne syndrome'
http://purl.obolibrary.org/obo/MONDO_0016007
cocaine embryofetopathy
http://purl.obolibrary.org/obo/GARD_0001413 EquivalentTo 'cocaine embryofetopathy'
http://purl.obolibrary.org/obo/MONDO_0016001
2-hydroxyglutaric aciduria
http://purl.obolibrary.org/obo/MESH_C535306 EquivalentTo '2-hydroxyglutaric aciduria'
http://purl.obolibrary.org/obo/MONDO_0016002
Ehlers-Danlos syndrome, kyphoscoliotic type
http://purl.obolibrary.org/obo/GARD_0002083 EquivalentTo 'Ehlers-Danlos syndrome, kyphoscoliotic type'
http://purl.obolibrary.org/obo/MONDO_0006697
Chlamydophila infectious disease
http://purl.obolibrary.org/obo/MESH_D023521 EquivalentTo 'Chlamydophila infectious disease'
http://purl.obolibrary.org/obo/MONDO_0016019
Rasmussen subacute encephalitis
http://purl.obolibrary.org/obo/GARD_0007527 EquivalentTo 'Rasmussen subacute encephalitis'
http://purl.obolibrary.org/obo/MONDO_0016015
phenobarbital embryopathy
http://purl.obolibrary.org/obo/GARD_0004315 EquivalentTo 'phenobarbital embryopathy'
http://purl.obolibrary.org/obo/MONDO_0016016
toluene embryopathy
http://linkedlifedata.com/resource/umls/id/C2931737 EquivalentTo 'toluene embryopathy'
http://purl.obolibrary.org/obo/GARD_0002672 EquivalentTo 'toluene embryopathy'
http://purl.obolibrary.org/obo/MONDO_0016028
erythromelalgia
'erythromelalgia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0016029
esthesioneuroblastoma
http://purl.obolibrary.org/obo/GARD_0002197 EquivalentTo 'esthesioneuroblastoma'
http://purl.obolibrary.org/obo/MONDO_0016022
early myoclonic encephalopathy
http://purl.obolibrary.org/obo/GARD_0007142 EquivalentTo 'early myoclonic encephalopathy'
'early myoclonic encephalopathy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001900
http://purl.obolibrary.org/obo/MONDO_0016021
early infantile epileptic encephalopathy
http://purl.obolibrary.org/obo/GARD_0009255 EquivalentTo 'early infantile epileptic encephalopathy'
http://purl.obolibrary.org/obo/MONDO_0016038
calcified aponeurotic fibroma
'calcified aponeurotic fibroma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C4818
'calcified aponeurotic fibroma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_703614006
http://purl.obolibrary.org/obo/MONDO_0016033
Cornelia de Lange syndrome
http://purl.obolibrary.org/obo/GARD_0010109 EquivalentTo 'Cornelia de Lange syndrome'
http://purl.obolibrary.org/obo/MONDO_0016035
Nelson syndrome
http://purl.obolibrary.org/obo/MESH_C531754 EquivalentTo 'Nelson syndrome'
http://purl.obolibrary.org/obo/MONDO_0016031
facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
'facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/GARD_0002221 EquivalentTo 'facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome'
'facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0016032
femoral agenesis/hypoplasia
http://purl.obolibrary.org/obo/GARD_0001503 EquivalentTo 'femoral agenesis/hypoplasia'
http://purl.obolibrary.org/obo/MONDO_0016047
endophthalmitis
'endophthalmitis' SubClassOf 'rare eye disease'
'endophthalmitis' SubClassOf 'infectious disease of the nervous system'
'endophthalmitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043885
http://purl.obolibrary.org/obo/MONDO_0016060
laryngotracheoesophageal cleft
'laryngotracheoesophageal cleft' EquivalentTo http://purl.obolibrary.org/obo/SCTID_232461002
http://purl.obolibrary.org/obo/MESH_C537875 EquivalentTo 'laryngotracheoesophageal cleft'
http://purl.obolibrary.org/obo/MONDO_0016057
isolated encephalocele
http://purl.obolibrary.org/obo/GARD_0006333 EquivalentTo 'isolated encephalocele'
http://purl.obolibrary.org/obo/MONDO_0016051
cleft lip-retinopathy syndrome
http://purl.obolibrary.org/obo/GARD_0000435 EquivalentTo 'cleft lip-retinopathy syndrome'
'cleft lip-retinopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0016071
juvenile hyaline fibromatosis
'juvenile hyaline fibromatosis' SubClassOf 'rare genetic bone disease'
'juvenile hyaline fibromatosis' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0016068
fibrochondrogenesis
'fibrochondrogenesis' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0016063
Cowden disease
http://purl.obolibrary.org/obo/GARD_0006202 EquivalentTo 'Cowden disease'
http://purl.obolibrary.org/obo/MONDO_0016081
coronary arterial fistulas
http://purl.obolibrary.org/obo/GARD_0001533 EquivalentTo 'coronary arterial fistulas'
http://purl.obolibrary.org/obo/MONDO_0016077
congenital aortopulmonary window
http://purl.obolibrary.org/obo/GARD_0000738 EquivalentTo 'congenital aortopulmonary window'
http://purl.obolibrary.org/obo/MESH_C537782 EquivalentTo 'congenital aortopulmonary window'
http://purl.obolibrary.org/obo/MONDO_0016076
lymphatic filariasis
http://purl.obolibrary.org/obo/GARD_0003321 EquivalentTo 'lymphatic filariasis'
http://purl.obolibrary.org/obo/MONDO_0016093
borderline epithelial tumor of ovary
'borderline epithelial tumor of ovary' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000140
http://purl.obolibrary.org/obo/GARD_0009363 EquivalentTo 'borderline epithelial tumor of ovary'
http://purl.obolibrary.org/obo/MONDO_0016088
hypoxanthine-guanine phosphoribosyltransferase deficiency
http://purl.obolibrary.org/obo/GARD_0002943 EquivalentTo 'hypoxanthine-guanine phosphoribosyltransferase deficiency'
http://purl.obolibrary.org/obo/MONDO_0016085
Cole-Carpenter syndrome
http://purl.obolibrary.org/obo/GARD_0001425 EquivalentTo 'Cole-Carpenter syndrome'
'Cole-Carpenter syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0016098
immune-mediated necrotizing myopathy
http://purl.obolibrary.org/obo/GARD_0013307 EquivalentTo 'immune-mediated necrotizing myopathy'
http://purl.obolibrary.org/obo/MONDO_0006502
acute respiratory distress syndrome
'acute respiratory distress syndrome' SubClassOf 'respiratory system disease'
http://purl.obolibrary.org/obo/MESH_D012128 EquivalentTo 'acute respiratory distress syndrome'
'acute respiratory distress syndrome' SubClassOf 'acute respiratory failure'
http://linkedlifedata.com/resource/umls/id/C0035222 EquivalentTo 'acute respiratory distress syndrome'
'acute respiratory distress syndrome' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/HP_0002093
http://purl.obolibrary.org/obo/DOID_11394 EquivalentTo 'acute respiratory distress syndrome'
'acute respiratory distress syndrome' SubClassOf 'primary interstitial lung disease specific to adulthood'
'acute respiratory distress syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_70578
http://purl.obolibrary.org/obo/GARD_0005698 EquivalentTo 'acute respiratory distress syndrome'
http://purl.obolibrary.org/obo/MONDO_0006522
acquired keratosis
'acquired keratosis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34746
http://purl.obolibrary.org/obo/MONDO_0006530
cholesteatoma (disease)
http://purl.obolibrary.org/obo/GARD_0010422 EquivalentTo 'cholesteatoma (disease)'
http://purl.obolibrary.org/obo/MONDO_0006549
fibroepithelial polyp of the anus
'fibroepithelial polyp of the anus' EquivalentTo http://purl.obolibrary.org/obo/SCTID_195469007
http://purl.obolibrary.org/obo/MONDO_0006547
exanthem (disease)
'exanthem (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C39594
http://purl.obolibrary.org/obo/MONDO_0006558
pemphigoid gestationis
'pemphigoid gestationis' SubClassOf 'pregnancy disease'
'pemphigoid gestationis' SubClassOf 'rare urogenital disease'
'pemphigoid gestationis' SubClassOf 'rare disorder related with pregnancy, childbirth and puerperium'
http://purl.obolibrary.org/obo/MONDO_0006561
hypopigmentation of eyelid
'hypopigmentation of eyelid' SubClassOf 'pigmentation disease'
'hypopigmentation of eyelid' SubClassOf 'eyelid degenerative disease'
'hypopigmentation of eyelid' SubClassOf 'pigmentation disease'
'hypopigmentation of eyelid' SubClassOf 'eyelid disease'
http://purl.obolibrary.org/obo/MONDO_0006576
Ludwig's angina
'Ludwig's angina' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
http://purl.obolibrary.org/obo/MONDO_0006590
palmoplantar keratosis
http://purl.obolibrary.org/obo/GARD_0008167 EquivalentTo 'palmoplantar keratosis'
http://purl.obolibrary.org/obo/MONDO_0006591
panniculitis
'panniculitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C33645
http://purl.obolibrary.org/obo/SCTID_83436008
'plague' EquivalentTo http://purl.obolibrary.org/obo/SCTID_83436008
'yersinia infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_83436008
http://purl.obolibrary.org/obo/MONDO_0006412
sinus histiocytosis with massive lymphadenopathy
http://purl.obolibrary.org/obo/GARD_0007588 EquivalentTo 'sinus histiocytosis with massive lymphadenopathy'
http://purl.obolibrary.org/obo/MONDO_0006429
splenic Hodgkin lymphoma
'splenic Hodgkin lymphoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_93527005
http://purl.obolibrary.org/obo/MONDO_0006468
thyroid gland undifferentiated (anaplastic) carcinoma
'thyroid gland undifferentiated (anaplastic) carcinoma' SubClassOf 'thyroid gland carcinoma'
'thyroid gland undifferentiated (anaplastic) carcinoma' SubClassOf 'thyroid gland carcinoma'
http://purl.obolibrary.org/obo/GARD_0000664 EquivalentTo 'thyroid gland undifferentiated (anaplastic) carcinoma'
'thyroid gland undifferentiated (anaplastic) carcinoma' EquivalentTo http://www.orpha.net/ORDO/Orphanet_142
'thyroid gland undifferentiated (anaplastic) carcinoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_255031003
http://purl.obolibrary.org/obo/MESH_D065646 EquivalentTo 'thyroid gland undifferentiated (anaplastic) carcinoma'
http://purl.obolibrary.org/obo/MONDO_0006477
undifferentiated ovarian carcinoma
'undifferentiated ovarian carcinoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254856004
http://purl.obolibrary.org/obo/MONDO_0006485
uterine carcinosarcoma
http://purl.obolibrary.org/obo/MESH_D012192 EquivalentTo 'uterine carcinosarcoma'
http://purl.obolibrary.org/obo/MONDO_0006486
uveal melanoma
http://purl.obolibrary.org/obo/GARD_0008621 EquivalentTo 'uveal melanoma'
http://purl.obolibrary.org/obo/MONDO_0006490
vaginal squamous cell carcinoma
'vaginal squamous cell carcinoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_105121000119102
http://purl.obolibrary.org/obo/MONDO_0006497
cerebral palsy
http://purl.obolibrary.org/obo/GARD_0010450 EquivalentTo 'cerebral palsy'
http://purl.obolibrary.org/obo/MONDO_0006493
Warthin tumor
'Warthin tumor' EquivalentTo http://purl.obolibrary.org/obo/SCTID_422470007
http://purl.obolibrary.org/obo/MONDO_0021902
aortopulmonary window
http://purl.obolibrary.org/obo/MESH_D001028 EquivalentTo 'aortopulmonary window'
http://purl.obolibrary.org/obo/MONDO_0021915
arakawa syndrome 2
'arakawa syndrome 2' EquivalentTo http://purl.obolibrary.org/obo/SCTID_89579000
http://purl.obolibrary.org/obo/MONDO_0021944
auditory neuropathy
'auditory neuropathy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_443805006
http://purl.obolibrary.org/obo/MONDO_0021945
hearing disorder
http://purl.obolibrary.org/obo/MESH_D006311 EquivalentTo 'hearing disorder'
http://purl.obolibrary.org/obo/MONDO_0006315
neoplastic medium-sized B-lymphocyte with basophilic cytoplasm
'neoplastic medium-sized B-lymphocyte with basophilic cytoplasm' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C37005
http://purl.obolibrary.org/obo/MONDO_0006314
nasal cavity polyp
http://purl.obolibrary.org/obo/MESH_D009298 EquivalentTo 'nasal cavity polyp'
http://purl.obolibrary.org/obo/MONDO_0006328
odontogenic cyst
'odontogenic cyst' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C54220
http://purl.obolibrary.org/obo/MONDO_0006325
ocular melanoma
http://purl.obolibrary.org/obo/GARD_0007236 EquivalentTo 'ocular melanoma'
http://purl.obolibrary.org/obo/MONDO_0021977
basaloid follicular hamartoma
'basaloid follicular hamartoma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C4749
http://purl.obolibrary.org/obo/MONDO_0006369
pineal parenchymal tumor of intermediate differentiation
http://purl.obolibrary.org/obo/GARD_0010644 EquivalentTo 'pineal parenchymal tumor of intermediate differentiation'
http://purl.obolibrary.org/obo/MONDO_0006363
peritoneal multicystic mesothelioma
http://purl.obolibrary.org/obo/GARD_0010777 EquivalentTo 'peritoneal multicystic mesothelioma'
http://purl.obolibrary.org/obo/MONDO_0006360
penile carcinoma
http://purl.obolibrary.org/obo/GARD_0009366 EquivalentTo 'penile carcinoma'
http://purl.obolibrary.org/obo/SCTID_124470009
'mucopolysaccharidosis type 7' EquivalentTo http://purl.obolibrary.org/obo/SCTID_124470009
http://www.ebi.ac.uk/efo/EFO_1000755
'pigmentation disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000755
'pigmentation anomaly of the skin' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000755
http://purl.obolibrary.org/obo/MONDO_0021812
adnexal spiradenoma/cylindroma of a sweat gland
'adnexal spiradenoma/cylindroma of a sweat gland' EquivalentTo http://purl.obolibrary.org/obo/SCTID_274903001
http://purl.obolibrary.org/obo/MONDO_0006210
fibrolamellar carcinoma
http://purl.obolibrary.org/obo/GARD_0009396 EquivalentTo 'fibrolamellar carcinoma'
http://purl.obolibrary.org/obo/MESH_C537258 EquivalentTo 'fibrolamellar carcinoma'
http://purl.obolibrary.org/obo/MONDO_0006225
gastric mantle cell lymphoma
'gastric mantle cell lymphoma' SubClassOf 'gastric lymphoma'
'gastric mantle cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042493
http://purl.obolibrary.org/obo/MONDO_0006226
gastric mucosa-associated lymphoid tissue lymphoma
'gastric mucosa-associated lymphoid tissue lymphoma' SubClassOf 'gastric lymphoma'
'gastric mucosa-associated lymphoid tissue lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042493
http://purl.obolibrary.org/obo/MONDO_0006248
hydatidiform mole
http://purl.obolibrary.org/obo/GARD_0010263 EquivalentTo 'hydatidiform mole'
http://purl.obolibrary.org/obo/MONDO_0021879
anaplastic small cell lymphoma
'anaplastic small cell lymphoma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C7208
http://purl.obolibrary.org/obo/MONDO_0006280
lung sclerosing hemangioma
'lung sclerosing hemangioma' SubClassOf 'obsolete sclerosing hemangioma'
'lung sclerosing hemangioma' SubClassOf 'obsolete sclerosing hemangioma'
http://purl.obolibrary.org/obo/MONDO_0006288
malignant adrenal gland pheochromocytoma
'malignant adrenal gland pheochromocytoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_21851000119103
http://purl.obolibrary.org/obo/MONDO_0006292
malignant mesothelioma (disease)
http://purl.obolibrary.org/obo/GARD_0007026 EquivalentTo 'malignant mesothelioma (disease)'
http://purl.obolibrary.org/obo/MONDO_0006290
malignant germ cell tumor
http://purl.obolibrary.org/obo/GARD_0003360 EquivalentTo 'malignant germ cell tumor'
http://purl.obolibrary.org/obo/MONDO_0006295
malignant urinary system neoplasm
'malignant urinary system neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_448233000
http://purl.obolibrary.org/obo/MONDO_0021702
alcohol amnestic disorder
'alcohol amnestic disorder' EquivalentTo http://purl.obolibrary.org/obo/SCTID_73097000
'alcohol amnestic disorder' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001759
'alcohol amnestic disorder' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34366
http://purl.obolibrary.org/obo/MONDO_0021720
fetal alcohol spectrum disorders
http://purl.obolibrary.org/obo/GARD_0000599 EquivalentTo 'fetal alcohol spectrum disorders'
http://purl.obolibrary.org/obo/MONDO_0021722
vulvodynia
http://purl.obolibrary.org/obo/MESH_D056650 EquivalentTo 'vulvodynia'
http://purl.obolibrary.org/obo/MONDO_0021723
vaginismus
http://purl.obolibrary.org/obo/MESH_D052065 EquivalentTo 'vaginismus'
http://purl.obolibrary.org/obo/MONDO_0006105
benign conjunctival neoplasm
'benign conjunctival neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_92068002
http://purl.obolibrary.org/obo/MONDO_0021745
psychosocial short stature
'psychosocial short stature' EquivalentTo http://purl.obolibrary.org/obo/SCTID_39465007
http://purl.obolibrary.org/obo/MONDO_0006115
blast phase chronic myelogenous leukemia, BCR-ABL1 positive
'blast phase chronic myelogenous leukemia, BCR-ABL1 positive' SubClassOf 'myeloid neoplasm'
'blast phase chronic myelogenous leukemia, BCR-ABL1 positive' SubClassOf 'leukemia (disease)'
http://purl.obolibrary.org/obo/MESH_D001752 EquivalentTo 'blast phase chronic myelogenous leukemia, BCR-ABL1 positive'
'blast phase chronic myelogenous leukemia, BCR-ABL1 positive' EquivalentTo http://purl.obolibrary.org/obo/SCTID_413656006
'blast phase chronic myelogenous leukemia, BCR-ABL1 positive' SubClassOf 'chronic myelogenous leukemia, BCR-ABL1 positive'
'blast phase chronic myelogenous leukemia, BCR-ABL1 positive' SubClassOf http://purl.obolibrary.org/obo/HP_0005506
http://purl.obolibrary.org/obo/MONDO_0021752
Achard-Thiers syndrome
'Achard-Thiers syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_34041001
http://purl.obolibrary.org/obo/MESH_C536013 EquivalentTo 'Achard-Thiers syndrome'
http://purl.obolibrary.org/obo/MESH_D010859
http://purl.obolibrary.org/obo/MESH_D010859 EquivalentTo 'pigmentation disease'
http://purl.obolibrary.org/obo/MESH_D010859 EquivalentTo 'pigmentation anomaly of the skin'
http://purl.obolibrary.org/obo/MONDO_0021758
acquired agranulocytosis
'acquired agranulocytosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_72050006
http://purl.obolibrary.org/obo/MONDO_0006151
colon dysplasia
'colon dysplasia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C4847
http://purl.obolibrary.org/obo/MONDO_0006172
conjunctival nevus
'conjunctival nevus' EquivalentTo http://purl.obolibrary.org/obo/SCTID_255006004
http://purl.obolibrary.org/obo/MONDO_0006183
disseminated peritoneal leiomyomatosis
'disseminated peritoneal leiomyomatosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0022202
http://purl.obolibrary.org/obo/GARD_0012843 EquivalentTo 'disseminated peritoneal leiomyomatosis'
http://purl.obolibrary.org/obo/MONDO_0006190
endolymphatic sac tumor (disease)
http://purl.obolibrary.org/obo/GARD_0009270 EquivalentTo 'endolymphatic sac tumor (disease)'
http://purl.obolibrary.org/obo/MONDO_0021605
benign eyelid neoplasm
'benign eyelid neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_231824001
http://purl.obolibrary.org/obo/MONDO_0021607
eyelid seborrheic keratosis
'eyelid seborrheic keratosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_231826004
http://purl.obolibrary.org/obo/MONDO_0021627
eyelid capillary hemangioma
'eyelid capillary hemangioma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_231828003
'eyelid capillary hemangioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0021641
bunyaviridae infectious disease
'bunyaviridae infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_105632002
http://purl.obolibrary.org/obo/MONDO_0021643
mesenteric varices
'mesenteric varices' EquivalentTo http://purl.obolibrary.org/obo/SCTID_22949006
http://purl.obolibrary.org/obo/MONDO_0006003
uterine corpus cancer
'uterine corpus cancer' EquivalentTo http://purl.obolibrary.org/obo/SCTID_371972005
http://purl.obolibrary.org/obo/MONDO_0006015
Waterhouse-Friderichsen syndrome
http://purl.obolibrary.org/obo/GARD_0009449 EquivalentTo 'Waterhouse-Friderichsen syndrome'
http://purl.obolibrary.org/obo/MONDO_0006011
viral hepatitis
'viral hepatitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
http://purl.obolibrary.org/obo/MONDO_0021661
coronary atherosclerosis
'coronary atherosclerosis' SubClassOf 'atherosclerosis'
'coronary atherosclerosis' SubClassOf 'atherosclerosis'
http://purl.obolibrary.org/obo/MONDO_0006021
Prinzmetal angina
http://purl.obolibrary.org/obo/GARD_0007465 EquivalentTo 'Prinzmetal angina'
http://purl.obolibrary.org/obo/MONDO_0006022
acidosis (disease)
'acidosis (disease)' SubClassOf 'hematological system disease'
'acidosis (disease)' SubClassOf 'hematological system disease'
'acidosis (disease)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0041261
'acidosis (disease)' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0001941
'acidosis (disease)' EquivalentTo 'metabolic disease' and ('disease has major feature' some http://purl.obolibrary.org/obo/HP_0001941)
http://purl.obolibrary.org/obo/MONDO_0021666
ear infection
http://purl.obolibrary.org/obo/MESH_D010031 EquivalentTo 'ear infection'
http://purl.obolibrary.org/obo/MONDO_0006039
infectious colitis
'infectious colitis' SubClassOf 'infectious disease'
'infectious colitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
http://purl.obolibrary.org/obo/MONDO_0006031
chronic rhinosinusitis
'chronic rhinosinusitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35151
http://purl.obolibrary.org/obo/MONDO_0021657
ovarian sex cord-stromal tumor
http://purl.obolibrary.org/obo/GARD_0012285 EquivalentTo 'ovarian sex cord-stromal tumor'
http://purl.obolibrary.org/obo/MONDO_0021659
combined carcinoid and adenocarcinoma
http://purl.obolibrary.org/obo/MESH_C538230 EquivalentTo 'combined carcinoid and adenocarcinoma'
http://purl.obolibrary.org/obo/GARD_0005741 EquivalentTo 'combined carcinoid and adenocarcinoma'
http://purl.obolibrary.org/obo/MONDO_0021680
streptococcal infection
'streptococcal infection' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001476
http://purl.obolibrary.org/obo/MONDO_0021681
sexually transmitted disease
'sexually transmitted disease' EquivalentTo http://www.orpha.net/ORDO/Orphanet_120579
'sexually transmitted disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3365
http://purl.obolibrary.org/obo/MONDO_0006043
metaplastic breast carcinoma
http://purl.obolibrary.org/obo/GARD_0010804 EquivalentTo 'metaplastic breast carcinoma'
http://purl.obolibrary.org/obo/MONDO_0006042
meningeal tuberculosis
http://purl.obolibrary.org/obo/GARD_0007828 EquivalentTo 'meningeal tuberculosis'
http://purl.obolibrary.org/obo/MONDO_0021698
alcohol-related disorders
'alcohol-related disorders' EquivalentTo http://purl.obolibrary.org/obo/SCTID_29212009
http://purl.obolibrary.org/obo/MONDO_0006075
adrenal gland myelolipoma
http://purl.obolibrary.org/obo/MESH_D018209 EquivalentTo 'adrenal gland myelolipoma'
http://purl.obolibrary.org/obo/MONDO_0031014
autoimmune gastritis
'autoimmune gastritis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C95752
http://purl.obolibrary.org/obo/MONDO_0021699
alcohol-induced disorders
'alcohol-induced disorders' EquivalentTo http://purl.obolibrary.org/obo/SCTID_719848005
http://purl.obolibrary.org/obo/MONDO_0006095
atypical carcinoid tumor
'atypical carcinoid tumor' EquivalentTo http://purl.obolibrary.org/obo/SCTID_445238008
http://purl.obolibrary.org/obo/OMIM_100600
'acanthosis nigricans (disease)' EquivalentTo http://purl.obolibrary.org/obo/OMIM_100600
http://purl.obolibrary.org/obo/MONDO_0043003 EquivalentTo http://purl.obolibrary.org/obo/OMIM_100600
http://purl.obolibrary.org/obo/MONDO_0002341
granulomatous angiitis
'granulomatous angiitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34653
http://purl.obolibrary.org/obo/MONDO_0016987
neuroacanthocytosis
http://purl.obolibrary.org/obo/GARD_0010902 EquivalentTo 'neuroacanthocytosis'
http://purl.obolibrary.org/obo/MONDO_0016989
Fuchs heterochromic iridocyclitis
http://purl.obolibrary.org/obo/GARD_0006791 EquivalentTo 'Fuchs heterochromic iridocyclitis'
http://purl.obolibrary.org/obo/MONDO_0016985
nevus of Ito
http://purl.obolibrary.org/obo/GARD_0010830 EquivalentTo 'nevus of Ito'
http://purl.obolibrary.org/obo/MONDO_0002358
laryngeal carcinoma
http://purl.obolibrary.org/obo/GARD_0006862 EquivalentTo 'laryngeal carcinoma'
http://purl.obolibrary.org/obo/MONDO_0002356
pancreas disease
http://purl.obolibrary.org/obo/MESH_D010182 EquivalentTo 'pancreas disease'
http://purl.obolibrary.org/obo/MONDO_0002352
larynx cancer
'larynx cancer' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000354
http://purl.obolibrary.org/obo/MONDO_0016990
acquired prothrombin deficiency
http://purl.obolibrary.org/obo/GARD_0000475 EquivalentTo 'acquired prothrombin deficiency'
'acquired prothrombin deficiency' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C131622
http://purl.obolibrary.org/obo/MONDO_0002379
cystic teratoma
'cystic teratoma' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/PATO_0001673
'cystic teratoma' EquivalentTo 'teratoma' and ('has modifier' some http://purl.obolibrary.org/obo/PATO_0001673)
http://purl.obolibrary.org/obo/MONDO_0002378
dermoid cyst
'dermoid cyst' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000894
http://purl.obolibrary.org/obo/MONDO_0002370
ovarian Brenner tumor
http://purl.obolibrary.org/obo/GARD_0009397 EquivalentTo 'ovarian Brenner tumor'
'ovarian Brenner tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000112
http://purl.obolibrary.org/obo/MONDO_0002386
mixed epithelial stromal tumor of the kidney
'mixed epithelial stromal tumor of the kidney' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000381
http://purl.obolibrary.org/obo/MONDO_0002385
benign cystic nephroma
'benign cystic nephroma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000213
http://purl.obolibrary.org/obo/MONDO_0002381
sweat gland neoplasm
'sweat gland neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001204
http://purl.obolibrary.org/obo/MONDO_0002400
synovitis (disease)
'synovitis (disease)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043786
http://purl.obolibrary.org/obo/GARD_0007722 EquivalentTo 'synovitis (disease)'
http://purl.obolibrary.org/obo/MONDO_0002409
auditory system disease
'auditory system disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001455
http://purl.obolibrary.org/obo/MONDO_0002416
ethmoid sinus squamous cell carcinoma
'ethmoid sinus squamous cell carcinoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_707359008
http://purl.obolibrary.org/obo/MONDO_0002457
Treacher-Collins syndrome
http://purl.obolibrary.org/obo/GARD_0009124 EquivalentTo 'Treacher-Collins syndrome'
'Treacher-Collins syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0002220
teeth hard tissue disease
'teeth hard tissue disease' SubClassOf 'tooth disease'
'teeth hard tissue disease' SubClassOf 'tooth disease'
http://purl.obolibrary.org/obo/MONDO_0002237
carbuncle
'carbuncle' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000674
http://purl.obolibrary.org/obo/MONDO_0002232
nasal cavity disease
'nasal cavity disease' SubClassOf 'nose disease'
'nasal cavity disease' SubClassOf 'nose disease'
http://purl.obolibrary.org/obo/MONDO_0002234
vaginitis (disease)
'vaginitis (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0005757
http://purl.obolibrary.org/obo/MONDO_0002235
eyelid neoplasm
'eyelid neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000934
http://purl.obolibrary.org/obo/MONDO_0016875
obsolete partial deletion of chromosome 10
'obsolete partial deletion of chromosome 10' SubClassOf 'partial autosomal monosomy'
'obsolete partial deletion of chromosome 10' EquivalentTo http://www.orpha.net/ORDO/Orphanet_261811
http://purl.obolibrary.org/obo/MONDO_0002249
thrombocytosis disease
'thrombocytosis disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35530
http://purl.obolibrary.org/obo/MONDO_0002243
hemorrhagic disease
'hemorrhagic disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C115221
http://purl.obolibrary.org/obo/MONDO_0016889
partial deletion of the short arm of chromosome 7
http://purl.obolibrary.org/obo/GARD_0001346 EquivalentTo 'partial deletion of the short arm of chromosome 7'
http://purl.obolibrary.org/obo/MONDO_0016883
partial deletion of the short arm of chromosome 1
http://purl.obolibrary.org/obo/GARD_0003730 EquivalentTo 'partial deletion of the short arm of chromosome 1'
'partial deletion of the short arm of chromosome 1' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C36501
http://purl.obolibrary.org/obo/MESH_C535591 EquivalentTo 'partial deletion of the short arm of chromosome 1'
http://purl.obolibrary.org/obo/MONDO_0002259
gonadal disease
'gonadal disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C26786
http://purl.obolibrary.org/obo/MONDO_0002256
cervix disease
'cervix disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C40241
http://purl.obolibrary.org/obo/MONDO_0002257
ankylosis (disease)
'ankylosis (disease)' EquivalentTo http://purl.obolibrary.org/obo/SCTID_111227009
http://purl.obolibrary.org/obo/MONDO_0002251
hepatitis
'hepatitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008496
http://purl.obolibrary.org/obo/MONDO_0016898
partial monosomy of the short arm of chromosome 20
http://purl.obolibrary.org/obo/MESH_C535370 EquivalentTo 'partial monosomy of the short arm of chromosome 20'
http://purl.obolibrary.org/obo/GARD_0003739 EquivalentTo 'partial monosomy of the short arm of chromosome 20'
http://purl.obolibrary.org/obo/MONDO_0016892
partial deletion of the short arm of chromosome 10
'partial deletion of the short arm of chromosome 10' SubClassOf 'partial deletion of chromosome X'
'partial deletion of the short arm of chromosome 10' SubClassOf 'obsolete partial deletion of chromosome 10'
http://purl.obolibrary.org/obo/MONDO_0016890
partial deletion of the short arm of chromosome 8
http://purl.obolibrary.org/obo/GARD_0003768 EquivalentTo 'partial deletion of the short arm of chromosome 8'
http://purl.obolibrary.org/obo/MONDO_0002269
gastroenteritis
'gastroenteritis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001463
http://purl.obolibrary.org/obo/MONDO_0002268
dyspepsia
'dyspepsia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008533
'dyspepsia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C26756
http://purl.obolibrary.org/obo/MONDO_0002260
hidradenitis
'hidradenitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C32132
http://purl.obolibrary.org/obo/MONDO_0002276
arteriosclerotic cardiovascular disease
'arteriosclerotic cardiovascular disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35771
http://linkedlifedata.com/resource/umls/id/C3665365 EquivalentTo 'arteriosclerotic cardiovascular disease'
'arteriosclerotic cardiovascular disease' SubClassOf 'arteriosclerosis (disease)'
http://purl.obolibrary.org/obo/DOID_2348 EquivalentTo 'arteriosclerotic cardiovascular disease'
http://purl.obolibrary.org/obo/MONDO_0002277
arteriosclerosis (disease)
'arteriosclerosis (disease)' SubClassOf 'artery disease'
http://purl.obolibrary.org/obo/DOID_2348 EquivalentTo 'arteriosclerosis (disease)'
'arteriosclerosis (disease)' SubClassOf 'degenerative disorder'
http://linkedlifedata.com/resource/umls/id/C3665365 EquivalentTo 'arteriosclerosis (disease)'
'arteriosclerosis (disease)' SubClassOf 'artery disease'
'arteriosclerosis (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34403
http://purl.obolibrary.org/obo/MONDO_0002272
polyclonal hypergammaglobulinemia
'polyclonal hypergammaglobulinemia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35885
http://purl.obolibrary.org/obo/MONDO_0002274
monoclonal paraproteinemia
'monoclonal paraproteinemia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35878
http://purl.obolibrary.org/obo/MONDO_0002270
viral gastritis
'viral gastritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
http://purl.obolibrary.org/obo/MONDO_0002271
colon adenocarcinoma
'colon adenocarcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001949
http://purl.obolibrary.org/obo/MONDO_0002289
iris disease
'iris disease' SubClassOf 'uveal disease'
'iris disease' SubClassOf 'uveal disease'
'iris disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34737
http://purl.obolibrary.org/obo/MONDO_0002280
anemia (disease)
'anemia (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0004272
http://purl.obolibrary.org/obo/MONDO_0002281
macrocytic anemia (disease)
'macrocytic anemia (disease)' EquivalentTo http://www.orpha.net/ORDO/Orphanet_119999
http://purl.obolibrary.org/obo/MONDO_0002282
West nile fever
'West nile fever' EquivalentTo http://purl.obolibrary.org/obo/SCTID_417093003
http://purl.obolibrary.org/obo/MONDO_0016907
partial deletion of the long arm of chromosome 8
http://purl.obolibrary.org/obo/GARD_0003770 EquivalentTo 'partial deletion of the long arm of chromosome 8'
http://purl.obolibrary.org/obo/MESH_C537828 EquivalentTo 'partial deletion of the long arm of chromosome 8'
http://purl.obolibrary.org/obo/MONDO_0016909
partial monosomy of the long arm of chromosome 10
'partial monosomy of the long arm of chromosome 10' SubClassOf 'partial deletion of chromosome X'
'partial monosomy of the long arm of chromosome 10' SubClassOf 'obsolete partial deletion of chromosome 10'
http://purl.obolibrary.org/obo/MONDO_0016903
partial deletion of the long arm of chromosome 4
http://purl.obolibrary.org/obo/GARD_0001340 EquivalentTo 'partial deletion of the long arm of chromosome 4'
http://purl.obolibrary.org/obo/MESH_C537639 EquivalentTo 'partial deletion of the long arm of chromosome 4'
http://purl.obolibrary.org/obo/MONDO_0016905
partial deletion of the long arm of chromosome 6
http://purl.obolibrary.org/obo/GARD_0003760 EquivalentTo 'partial deletion of the long arm of chromosome 6'
http://purl.obolibrary.org/obo/MESH_C537807 EquivalentTo 'partial deletion of the long arm of chromosome 6'
http://purl.obolibrary.org/obo/MONDO_0016906
partial deletion of the long arm of chromosome 7
http://purl.obolibrary.org/obo/GARD_0003765 EquivalentTo 'partial deletion of the long arm of chromosome 7'
http://purl.obolibrary.org/obo/MONDO_0016901
partial deletion of the long arm of chromosome 2
http://purl.obolibrary.org/obo/MESH_C538315 EquivalentTo 'partial deletion of the long arm of chromosome 2'
http://purl.obolibrary.org/obo/GARD_0003744 EquivalentTo 'partial deletion of the long arm of chromosome 2'
http://purl.obolibrary.org/obo/MONDO_0016916
partial deletion of the long arm of chromosome 18
http://purl.obolibrary.org/obo/GARD_0013000 EquivalentTo 'partial deletion of the long arm of chromosome 18'
http://purl.obolibrary.org/obo/MONDO_0016910
partial deletion of the long arm of chromosome 11
http://purl.obolibrary.org/obo/GARD_0001735 EquivalentTo 'partial deletion of the long arm of chromosome 11'
'partial deletion of the long arm of chromosome 11' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C37312
http://purl.obolibrary.org/obo/MONDO_0016911
partial deletion of the long arm of chromosome 13
http://purl.obolibrary.org/obo/GARD_0001738 EquivalentTo 'partial deletion of the long arm of chromosome 13'
http://purl.obolibrary.org/obo/MONDO_0016912
partial deletion of the long arm of chromosome 14
http://purl.obolibrary.org/obo/GARD_0003722 EquivalentTo 'partial deletion of the long arm of chromosome 14'
http://purl.obolibrary.org/obo/MONDO_0016913
partial deletion of the long arm of chromosome 15
http://purl.obolibrary.org/obo/GARD_0001746 EquivalentTo 'partial deletion of the long arm of chromosome 15'
http://purl.obolibrary.org/obo/MONDO_0016939
partial duplication of the short arm of chromosome 2
http://purl.obolibrary.org/obo/MESH_C538318 EquivalentTo 'partial duplication of the short arm of chromosome 2'
http://purl.obolibrary.org/obo/GARD_0005337 EquivalentTo 'partial duplication of the short arm of chromosome 2'
http://purl.obolibrary.org/obo/MONDO_0016933
partial trisomy/tetrasomy of the short arm of chromosome 12
'partial trisomy/tetrasomy of the short arm of chromosome 12' SubClassOf 'partial autosomal trisomy/tetrasomy'
'partial trisomy/tetrasomy of the short arm of chromosome 12' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042968
http://purl.obolibrary.org/obo/MONDO_0016931
obsolete partial duplication of chromosome 10
'obsolete partial duplication of chromosome 10' EquivalentTo http://www.orpha.net/ORDO/Orphanet_262648
'obsolete partial duplication of chromosome 10' SubClassOf 'partial autosomal trisomy/tetrasomy'
http://purl.obolibrary.org/obo/MONDO_0002303
central retinal vein occlusion
'central retinal vein occlusion' EquivalentTo 'retinal vein occlusion' and ('disease has location' some http://purl.obolibrary.org/obo/UBERON_0001673)
'central retinal vein occlusion' SubClassOf 'disease has location' some http://purl.obolibrary.org/obo/UBERON_0001673
'central retinal vein occlusion' SubClassOf 'vein disease'
http://purl.obolibrary.org/obo/MONDO_0002304
protein S deficiency
'protein S deficiency' EquivalentTo http://www.orpha.net/ORDO/Orphanet_118053
http://purl.obolibrary.org/obo/MONDO_0016947
obsolete partial duplication of the short arm of chromosome 10
'obsolete partial duplication of the short arm of chromosome 10' EquivalentTo http://www.orpha.net/ORDO/Orphanet_262776
'obsolete partial duplication of the short arm of chromosome 10' SubClassOf 'obsolete partial duplication of chromosome 10'
http://purl.obolibrary.org/obo/MONDO_0016949
partial duplication of the short arm of chromosome 16
http://purl.obolibrary.org/obo/GARD_0005315 EquivalentTo 'partial duplication of the short arm of chromosome 16'
http://purl.obolibrary.org/obo/MONDO_0016943
partial duplication of the short arm of chromosome 6
http://purl.obolibrary.org/obo/GARD_0005352 EquivalentTo 'partial duplication of the short arm of chromosome 6'
http://purl.obolibrary.org/obo/MESH_C537811 EquivalentTo 'partial duplication of the short arm of chromosome 6'
http://purl.obolibrary.org/obo/MONDO_0016944
partial duplication of the short arm of chromosome 7
http://purl.obolibrary.org/obo/GARD_0005355 EquivalentTo 'partial duplication of the short arm of chromosome 7'
http://purl.obolibrary.org/obo/MESH_C537819 EquivalentTo 'partial duplication of the short arm of chromosome 7'
http://purl.obolibrary.org/obo/MONDO_0016945
partial duplication of the short arm of chromosome 8
http://purl.obolibrary.org/obo/GARD_0005361 EquivalentTo 'partial duplication of the short arm of chromosome 8'
http://purl.obolibrary.org/obo/MONDO_0016946
partial trisomy of the short arm of chromosome 9
http://purl.obolibrary.org/obo/GARD_0005364 EquivalentTo 'partial trisomy of the short arm of chromosome 9'
http://purl.obolibrary.org/obo/MONDO_0016940
partial duplication of the short arm of chromosome 3
http://purl.obolibrary.org/obo/MESH_C536811 EquivalentTo 'partial duplication of the short arm of chromosome 3'
http://purl.obolibrary.org/obo/GARD_0005343 EquivalentTo 'partial duplication of the short arm of chromosome 3'
http://purl.obolibrary.org/obo/MONDO_0002308
giant papillary conjunctivitis
'giant papillary conjunctivitis' EquivalentTo http://www.orpha.net/ORDO/Orphanet_398416
http://purl.obolibrary.org/obo/MONDO_0002311
retinal vascular disease
'retinal vascular disease' SubClassOf 'vascular disease'
'retinal vascular disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0016958
partial duplication of the long arm of chromosome 7
http://purl.obolibrary.org/obo/MESH_C537821 EquivalentTo 'partial duplication of the long arm of chromosome 7'
http://purl.obolibrary.org/obo/GARD_0005357 EquivalentTo 'partial duplication of the long arm of chromosome 7'
http://purl.obolibrary.org/obo/MONDO_0016954
partial duplication of the long arm of chromosome 3
http://purl.obolibrary.org/obo/GARD_0005345 EquivalentTo 'partial duplication of the long arm of chromosome 3'
http://purl.obolibrary.org/obo/MESH_C536813 EquivalentTo 'partial duplication of the long arm of chromosome 3'
http://purl.obolibrary.org/obo/MONDO_0016955
partial duplication of the long arm of chromosome 4
http://purl.obolibrary.org/obo/GARD_0005347 EquivalentTo 'partial duplication of the long arm of chromosome 4'
http://purl.obolibrary.org/obo/MESH_C537644 EquivalentTo 'partial duplication of the long arm of chromosome 4'
http://purl.obolibrary.org/obo/MONDO_0016956
partial trisomy of the long arm of chromosome 5
http://purl.obolibrary.org/obo/GARD_0005351 EquivalentTo 'partial trisomy of the long arm of chromosome 5'
http://purl.obolibrary.org/obo/MESH_C537650 EquivalentTo 'partial trisomy of the long arm of chromosome 5'
http://purl.obolibrary.org/obo/MONDO_0016957
partial duplication of the long arm of chromosome 6
http://purl.obolibrary.org/obo/MESH_C537812 EquivalentTo 'partial duplication of the long arm of chromosome 6'
http://purl.obolibrary.org/obo/GARD_0005353 EquivalentTo 'partial duplication of the long arm of chromosome 6'
http://purl.obolibrary.org/obo/MONDO_0016952
partial duplication of the long arm of chromosome 1
http://purl.obolibrary.org/obo/GARD_0010831 EquivalentTo 'partial duplication of the long arm of chromosome 1'
http://purl.obolibrary.org/obo/MONDO_0016953
partial duplication of the long arm of chromosome 2
http://purl.obolibrary.org/obo/GARD_0005340 EquivalentTo 'partial duplication of the long arm of chromosome 2'
http://purl.obolibrary.org/obo/MESH_C535367 EquivalentTo 'partial duplication of the long arm of chromosome 2'
http://purl.obolibrary.org/obo/MONDO_0002327
intracranial cavernous angioma
'intracranial cavernous angioma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_445513004
http://purl.obolibrary.org/obo/MONDO_0002322
angiodysplasia
'angiodysplasia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_90858003
http://purl.obolibrary.org/obo/MONDO_0016969
partial duplication of the long arm of chromosome 19
http://purl.obolibrary.org/obo/MESH_C538311 EquivalentTo 'partial duplication of the long arm of chromosome 19'
http://purl.obolibrary.org/obo/GARD_0005326 EquivalentTo 'partial duplication of the long arm of chromosome 19'
http://purl.obolibrary.org/obo/MONDO_0016965
partial duplication of the long arm of chromosome 15
http://purl.obolibrary.org/obo/MESH_C538040 EquivalentTo 'partial duplication of the long arm of chromosome 15'
http://purl.obolibrary.org/obo/GARD_0005314 EquivalentTo 'partial duplication of the long arm of chromosome 15'
http://purl.obolibrary.org/obo/MONDO_0016966
partial trisomy of the long arm of chromosome 16
http://purl.obolibrary.org/obo/GARD_0005316 EquivalentTo 'partial trisomy of the long arm of chromosome 16'
http://purl.obolibrary.org/obo/MESH_C538042 EquivalentTo 'partial trisomy of the long arm of chromosome 16'
http://purl.obolibrary.org/obo/MONDO_0016967
partial duplication of the long arm of chromosome 17
http://purl.obolibrary.org/obo/GARD_0005320 EquivalentTo 'partial duplication of the long arm of chromosome 17'
http://purl.obolibrary.org/obo/MONDO_0016968
partial trisomy of the long arm of chromosome 18
http://purl.obolibrary.org/obo/GARD_0005324 EquivalentTo 'partial trisomy of the long arm of chromosome 18'
http://purl.obolibrary.org/obo/MESH_C538308 EquivalentTo 'partial trisomy of the long arm of chromosome 18'
http://purl.obolibrary.org/obo/MONDO_0016961
obsolete partial duplication of the long arm of chromosome 10
'obsolete partial duplication of the long arm of chromosome 10' EquivalentTo http://www.orpha.net/ORDO/Orphanet_262914
http://purl.obolibrary.org/obo/MONDO_0016962
partial duplication of the long arm of chromosome 11
http://purl.obolibrary.org/obo/GARD_0001923 EquivalentTo 'partial duplication of the long arm of chromosome 11'
http://purl.obolibrary.org/obo/MONDO_0016963
partial duplication of the long arm of chromosome 13
http://purl.obolibrary.org/obo/GARD_0001929 EquivalentTo 'partial duplication of the long arm of chromosome 13'
http://purl.obolibrary.org/obo/MONDO_0016964
partial duplication of the long arm of chromosome 14
http://purl.obolibrary.org/obo/GARD_0005311 EquivalentTo 'partial duplication of the long arm of chromosome 14'
http://purl.obolibrary.org/obo/MONDO_0002332
splenic disease
'splenic disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35823
http://purl.obolibrary.org/obo/MONDO_0002333
splenic abscess (disease)
'splenic abscess (disease)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
http://purl.obolibrary.org/obo/MONDO_0002330
alcoholic psychosis
'alcoholic psychosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001260
http://purl.obolibrary.org/obo/MONDO_0016746
meningeal melanocytoma
'meningeal melanocytoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000370
http://purl.obolibrary.org/obo/MONDO_0016748
hemangioblastoma
'hemangioblastoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/GARD_0008232 EquivalentTo 'hemangioblastoma'
http://purl.obolibrary.org/obo/MONDO_0002109
pituitary cancer
http://purl.obolibrary.org/obo/GARD_0009371 EquivalentTo 'pituitary cancer'
'pituitary cancer' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0005578
http://purl.obolibrary.org/obo/MONDO_0002113
peritoneal carcinoma
'peritoneal carcinoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_447781009
http://purl.obolibrary.org/obo/MONDO_0002110
adrenal rest tumor
'adrenal rest tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000798
http://purl.obolibrary.org/obo/MONDO_0016755
neurofibroma
'neurofibroma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0000622
http://purl.obolibrary.org/obo/MONDO_0016750
microcephaly-cleft palate syndrome
http://purl.obolibrary.org/obo/GARD_0008623 EquivalentTo 'microcephaly-cleft palate syndrome'
http://purl.obolibrary.org/obo/MONDO_0002119
ossifying fibroma (disease)
'ossifying fibroma (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0007412
http://purl.obolibrary.org/obo/GARD_0012792 EquivalentTo 'ossifying fibroma (disease)'
http://purl.obolibrary.org/obo/MONDO_0002123
calcinosis
'calcinosis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3672
http://purl.obolibrary.org/obo/MONDO_0002125
status epilepticus
'status epilepticus' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008526
http://purl.obolibrary.org/obo/MONDO_0016764
isolated anophthalmia-microphthalmia syndrome
http://purl.obolibrary.org/obo/GARD_0012085 EquivalentTo 'isolated anophthalmia-microphthalmia syndrome'
http://purl.obolibrary.org/obo/MONDO_0016761
spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
http://purl.obolibrary.org/obo/GARD_0007687 EquivalentTo 'spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia'
http://purl.obolibrary.org/obo/MONDO_0016762
microcornea-corectopia-macular hypoplasia syndrome
http://purl.obolibrary.org/obo/MESH_C537551 EquivalentTo 'microcornea-corectopia-macular hypoplasia syndrome'
http://purl.obolibrary.org/obo/GARD_0003636 EquivalentTo 'microcornea-corectopia-macular hypoplasia syndrome'
http://purl.obolibrary.org/obo/MONDO_0002137
noninfectious dermatoses of eyelid
'noninfectious dermatoses of eyelid' EquivalentTo http://purl.obolibrary.org/obo/SCTID_111524003
http://purl.obolibrary.org/obo/MONDO_0002131
jaw cancer
'jaw cancer' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0007333
http://purl.obolibrary.org/obo/MONDO_0002145
sex differentiation disease
'sex differentiation disease' SubClassOf 'gonadal disease'
'sex differentiation disease' SubClassOf 'gonadal disease'
http://purl.obolibrary.org/obo/MONDO_0002142
undifferentiated pleomorphic sarcoma
http://purl.obolibrary.org/obo/MESH_D051677 EquivalentTo 'undifferentiated pleomorphic sarcoma'
'undifferentiated pleomorphic sarcoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001972
http://purl.obolibrary.org/obo/MONDO_0016784
gestational trophoblastic disease
'gestational trophoblastic disease' SubClassOf 'pregnancy disease'
'gestational trophoblastic disease' SubClassOf 'rare disorder related with pregnancy, childbirth and puerperium'
http://purl.obolibrary.org/obo/MONDO_0002155
cholecystitis
http://purl.obolibrary.org/obo/GARD_0000030 EquivalentTo 'cholecystitis'
http://purl.obolibrary.org/obo/MONDO_0002152
intermittent squint
'intermittent squint' EquivalentTo http://purl.obolibrary.org/obo/SCTID_74025007
http://purl.obolibrary.org/obo/MONDO_0002174
preretinal fibrosis
http://purl.obolibrary.org/obo/MESH_D019773 EquivalentTo 'preretinal fibrosis'
http://purl.obolibrary.org/obo/MONDO_0002184
drug-induced hepatitis
'drug-induced hepatitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000905
http://purl.obolibrary.org/obo/MONDO_0016817
Meier-Gorlin syndrome
'Meier-Gorlin syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/GARD_0002033 EquivalentTo 'Meier-Gorlin syndrome'
http://purl.obolibrary.org/obo/MONDO_0016812
dopa-responsive dystonia
http://purl.obolibrary.org/obo/GARD_0009817 EquivalentTo 'dopa-responsive dystonia'
http://purl.obolibrary.org/obo/MONDO_0016814
maternally-inherited Leigh syndrome
http://purl.obolibrary.org/obo/GARD_0003671 EquivalentTo 'maternally-inherited Leigh syndrome'
http://purl.obolibrary.org/obo/MONDO_0016829
familial visceral myopathy
http://purl.obolibrary.org/obo/GARD_0003443 EquivalentTo 'familial visceral myopathy'
http://purl.obolibrary.org/obo/MONDO_0016823
mycetoma
http://purl.obolibrary.org/obo/GARD_0003862 EquivalentTo 'mycetoma'
http://purl.obolibrary.org/obo/MONDO_0016824
myofibromatosis
http://purl.obolibrary.org/obo/MESH_D018224 EquivalentTo 'myofibromatosis'
http://purl.obolibrary.org/obo/MONDO_0016820
Moyamoya disease
http://purl.obolibrary.org/obo/GARD_0007064 EquivalentTo 'Moyamoya disease'
http://purl.obolibrary.org/obo/MONDO_0016821
shoulder and girdle defects-familial intellectual disability syndrome
http://purl.obolibrary.org/obo/GARD_0004860 EquivalentTo 'shoulder and girdle defects-familial intellectual disability syndrome'
http://purl.obolibrary.org/obo/MONDO_0016830
Emery-Dreifuss muscular dystrophy
http://purl.obolibrary.org/obo/GARD_0006329 EquivalentTo 'Emery-Dreifuss muscular dystrophy'
http://purl.obolibrary.org/obo/MONDO_0016831
linear verrucous nevus syndrome
http://purl.obolibrary.org/obo/GARD_0003259 EquivalentTo 'linear verrucous nevus syndrome'
http://purl.obolibrary.org/obo/MONDO_0002203
constipation disorder
'constipation disorder' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C37930
http://purl.obolibrary.org/obo/MONDO_0016849
Nakajo-Nishimura syndrome
http://purl.obolibrary.org/obo/GARD_0003916 EquivalentTo 'Nakajo-Nishimura syndrome'
http://purl.obolibrary.org/obo/MONDO_0016844
trisomy 20p
http://purl.obolibrary.org/obo/GARD_0005333 EquivalentTo 'trisomy 20p'
http://purl.obolibrary.org/obo/MONDO_0016840
trisomy 17p
http://purl.obolibrary.org/obo/GARD_0005318 EquivalentTo 'trisomy 17p'
http://purl.obolibrary.org/obo/MONDO_0016855
Mowat-Wilson syndrome due to monosomy 2q22
'Mowat-Wilson syndrome due to monosomy 2q22' SubClassOf 'chromosomal anomaly with epilepsy as a major feature'
http://purl.obolibrary.org/obo/MONDO_0016648
multiple epiphyseal dysplasia (disease)
http://purl.obolibrary.org/obo/GARD_0010756 EquivalentTo 'multiple epiphyseal dysplasia (disease)'
http://purl.obolibrary.org/obo/MONDO_0016649
Warburg micro syndrome
http://purl.obolibrary.org/obo/GARD_0005534 EquivalentTo 'Warburg micro syndrome'
http://purl.obolibrary.org/obo/MONDO_0016642
meningioma (disease)
http://purl.obolibrary.org/obo/GARD_0007015 EquivalentTo 'meningioma (disease)'
http://purl.obolibrary.org/obo/MONDO_0016643
frontonasal dysplasia
http://purl.obolibrary.org/obo/GARD_0002392 EquivalentTo 'frontonasal dysplasia'
http://purl.obolibrary.org/obo/MONDO_0016640
fibrous dysplasia of bone
http://purl.obolibrary.org/obo/GARD_0006444 EquivalentTo 'fibrous dysplasia of bone'
http://purl.obolibrary.org/obo/MONDO_0002017
olivopontocerebellar atrophy
http://purl.obolibrary.org/obo/GARD_0007250 EquivalentTo 'olivopontocerebellar atrophy'
http://purl.obolibrary.org/obo/MONDO_0016658
8p23.1 microdeletion syndrome
http://purl.obolibrary.org/obo/GARD_0003769 EquivalentTo '8p23.1 microdeletion syndrome'
http://purl.obolibrary.org/obo/MONDO_0016654
ring chromosome 5
'ring chromosome 5' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C121984
http://purl.obolibrary.org/obo/MONDO_0016668
sickle cell-beta-thalassemia disease syndrome
'sickle cell-beta-thalassemia disease syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C95539
http://purl.obolibrary.org/obo/MONDO_0016669
sickle cell-hemoglobin c disease syndrome
http://purl.obolibrary.org/obo/GARD_0006584 EquivalentTo 'sickle cell-hemoglobin c disease syndrome'
http://purl.obolibrary.org/obo/MONDO_0002039
cognitive disorder
'cognitive disorder' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001457
http://purl.obolibrary.org/obo/MONDO_0002032
colon carcinoma
'colon carcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001950
http://purl.obolibrary.org/obo/MONDO_0016675
distal arthrogryposis type 10
'distal arthrogryposis type 10' EquivalentTo http://purl.obolibrary.org/obo/SCTID_275336002
http://purl.obolibrary.org/obo/MESH_C566069 EquivalentTo 'distal arthrogryposis type 10'
http://purl.obolibrary.org/obo/MONDO_0016670
sickle cell-hemoglobin d disease syndrome
http://purl.obolibrary.org/obo/GARD_0012458 EquivalentTo 'sickle cell-hemoglobin d disease syndrome'
http://purl.obolibrary.org/obo/MONDO_0002049
thrombocytopenia
'thrombocytopenia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3408
http://purl.obolibrary.org/obo/MONDO_0002048
thrombocytopenia due to immune destruction
http://purl.obolibrary.org/obo/GARD_0006768 EquivalentTo 'thrombocytopenia due to immune destruction'
http://purl.obolibrary.org/obo/MONDO_0016686
diffuse astrocytoma
http://purl.obolibrary.org/obo/GARD_0005907 EquivalentTo 'diffuse astrocytoma'
http://purl.obolibrary.org/obo/MONDO_0016684
anaplastic astrocytoma
'anaplastic astrocytoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0002499
http://purl.obolibrary.org/obo/GARD_0005860 EquivalentTo 'anaplastic astrocytoma'
http://purl.obolibrary.org/obo/MONDO_0016681
gliosarcoma
'gliosarcoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001465
http://purl.obolibrary.org/obo/MONDO_0002056
breast fibroadenoma
'breast fibroadenoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000254
http://purl.obolibrary.org/obo/MONDO_0016698
ependymoma
http://purl.obolibrary.org/obo/GARD_0006353 EquivalentTo 'ependymoma'
http://purl.obolibrary.org/obo/MONDO_0016695
oligodendroglioma
http://purl.obolibrary.org/obo/GARD_0009953 EquivalentTo 'oligodendroglioma'
http://purl.obolibrary.org/obo/MONDO_0016696
anaplastic oligodendroglioma
'anaplastic oligodendroglioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0002501
http://purl.obolibrary.org/obo/MONDO_0016691
pilocytic astrocytoma
http://purl.obolibrary.org/obo/GARD_0009808 EquivalentTo 'pilocytic astrocytoma'
http://purl.obolibrary.org/obo/MONDO_0002074
Behcet syndrome arthropathy
'Behcet syndrome arthropathy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35225
http://purl.obolibrary.org/obo/MONDO_0002077
low implantation of placenta
'low implantation of placenta' EquivalentTo http://purl.obolibrary.org/obo/SCTID_7792000
http://purl.obolibrary.org/obo/MONDO_0002070
ventricular septal defect (disease)
http://purl.obolibrary.org/obo/GARD_0007853 EquivalentTo 'ventricular septal defect (disease)'
http://purl.obolibrary.org/obo/MONDO_0002072
melanotic neuroectodermal tumor
'melanotic neuroectodermal tumor' EquivalentTo http://purl.obolibrary.org/obo/SCTID_404042005
'melanotic neuroectodermal tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001038
http://purl.obolibrary.org/obo/MONDO_0002081
musculoskeletal system disease
'musculoskeletal system disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C107377
http://purl.obolibrary.org/obo/MONDO_0002083
Richter syndrome
http://purl.obolibrary.org/obo/GARD_0007578 EquivalentTo 'Richter syndrome'
http://purl.obolibrary.org/obo/MONDO_0002096
malignant conjunctival melanoma
http://purl.obolibrary.org/obo/GARD_0010744 EquivalentTo 'malignant conjunctival melanoma'
http://purl.obolibrary.org/obo/MONDO_0002098
facial nerve disease
'facial nerve disease' SubClassOf 'cranial nerve neuropathy'
'facial nerve disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C27594
http://purl.obolibrary.org/obo/ICD10_G51 EquivalentTo 'facial nerve disease'
'facial nerve disease' SubClassOf 'cranial nerve neuropathy'
http://purl.obolibrary.org/obo/MONDO_0002093
acanthoma (disease)
http://purl.obolibrary.org/obo/GARD_0008604 EquivalentTo 'acanthoma (disease)'
http://purl.obolibrary.org/obo/MONDO_0016702
oligoastrocytoma
'oligoastrocytoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0000630
http://purl.obolibrary.org/obo/MONDO_0016703
anaplastic oligoastrocytoma
'anaplastic oligoastrocytoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0002500
http://purl.obolibrary.org/obo/MONDO_0016718
choroid plexus carcinoma
http://purl.obolibrary.org/obo/GARD_0008238 EquivalentTo 'choroid plexus carcinoma'
http://purl.obolibrary.org/obo/MONDO_0016719
microcephaly-seizures-intellectual disability-heart disease syndrome
http://purl.obolibrary.org/obo/MESH_C537544 EquivalentTo 'microcephaly-seizures-intellectual disability-heart disease syndrome'
http://purl.obolibrary.org/obo/GARD_0003632 EquivalentTo 'microcephaly-seizures-intellectual disability-heart disease syndrome'
http://purl.obolibrary.org/obo/MONDO_0016715
ependymoblastoma
http://purl.obolibrary.org/obo/GARD_0006352 EquivalentTo 'ependymoblastoma'
http://purl.obolibrary.org/obo/MONDO_0016724
papillary tumor of the pineal region
'papillary tumor of the pineal region' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000451
http://purl.obolibrary.org/obo/MONDO_0016733
ganglioglioma
'ganglioglioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003094
http://purl.obolibrary.org/obo/MONDO_0016509
microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
http://purl.obolibrary.org/obo/GARD_0010938 EquivalentTo 'microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome'
http://purl.obolibrary.org/obo/MONDO_0016515
Kallmann syndrome-heart disease syndrome
'Kallmann syndrome-heart disease syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'Kallmann syndrome-heart disease syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0016516
Kenny-Caffey syndrome
'Kenny-Caffey syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0016512
Kabuki syndrome
http://purl.obolibrary.org/obo/GARD_0006810 EquivalentTo 'Kabuki syndrome'
http://purl.obolibrary.org/obo/MONDO_0016527
glycogen storage disease due to lactate dehydrogenase deficiency
'glycogen storage disease due to lactate dehydrogenase deficiency' EquivalentTo 'glycogen storage disease' and ('disease caused by disruption of' some http://purl.obolibrary.org/obo/GO_0004457)
http://purl.obolibrary.org/obo/GARD_0003159 EquivalentTo 'glycogen storage disease due to lactate dehydrogenase deficiency'
http://purl.obolibrary.org/obo/MESH_C580233 EquivalentTo 'glycogen storage disease due to lactate dehydrogenase deficiency'
'glycogen storage disease due to lactate dehydrogenase deficiency' SubClassOf 'disease caused by disruption of' some http://purl.obolibrary.org/obo/GO_0004457
'glycogen storage disease due to lactate dehydrogenase deficiency' SubClassOf 'disease disrupting molecular activity'
http://purl.obolibrary.org/obo/MONDO_0016522
Kousseff syndrome
http://purl.obolibrary.org/obo/GARD_0004752 EquivalentTo 'Kousseff syndrome'
http://purl.obolibrary.org/obo/MONDO_0016523
bronchogenic cyst (disease)
http://purl.obolibrary.org/obo/GARD_0001025 EquivalentTo 'bronchogenic cyst (disease)'
http://purl.obolibrary.org/obo/MONDO_0016537
lymphoproliferative syndrome
'lymphoproliferative syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C9308
http://purl.obolibrary.org/obo/MONDO_0016535
hypohidrotic ectodermal dysplasia
http://purl.obolibrary.org/obo/GARD_0000076 EquivalentTo 'hypohidrotic ectodermal dysplasia'
http://purl.obolibrary.org/obo/MONDO_0016543
hyperphenylalaninemia
'hyperphenylalaninemia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_68528007
http://purl.obolibrary.org/obo/MONDO_0016542
immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
http://purl.obolibrary.org/obo/GARD_0013016 EquivalentTo 'immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome'
http://purl.obolibrary.org/obo/MONDO_0016558
familial congenital mirror movements
http://purl.obolibrary.org/obo/GARD_0012551 EquivalentTo 'familial congenital mirror movements'
http://purl.obolibrary.org/obo/MONDO_0016554
neonatal iodine exposure
http://purl.obolibrary.org/obo/GARD_0003025 EquivalentTo 'neonatal iodine exposure'
http://purl.obolibrary.org/obo/MONDO_0016557
leukonychia totalis
http://purl.obolibrary.org/obo/GARD_0009759 EquivalentTo 'leukonychia totalis'
http://purl.obolibrary.org/obo/MONDO_0016568
Lowe-Kohn-Cohen syndrome
http://purl.obolibrary.org/obo/MESH_C535996 EquivalentTo 'Lowe-Kohn-Cohen syndrome'
http://purl.obolibrary.org/obo/MONDO_0016576
split hand-foot malformation
http://purl.obolibrary.org/obo/GARD_0006319 EquivalentTo 'split hand-foot malformation'
http://purl.obolibrary.org/obo/MONDO_0016579
dominant hypophosphatemia with nephrolithiasis or osteoporosis
'dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf 'rare genetic bone disease'
'dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0016575
primary ciliary dyskinesia
http://purl.obolibrary.org/obo/GARD_0004484 EquivalentTo 'primary ciliary dyskinesia'
http://purl.obolibrary.org/obo/MONDO_0016587
arrhythmogenic right ventricular cardiomyopathy
http://purl.obolibrary.org/obo/GARD_0005847 EquivalentTo 'arrhythmogenic right ventricular cardiomyopathy'
http://purl.obolibrary.org/obo/MONDO_0016583
familial intestinal malrotation-facial anomalies syndrome
http://purl.obolibrary.org/obo/GARD_0005000 EquivalentTo 'familial intestinal malrotation-facial anomalies syndrome'
http://purl.obolibrary.org/obo/MONDO_0016584
mandibuloacral dysplasia
http://purl.obolibrary.org/obo/GARD_0011893 EquivalentTo 'mandibuloacral dysplasia'
'mandibuloacral dysplasia' SubClassOf 'rare genetic bone disease'
'mandibuloacral dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0016586
systemic mastocytosis
http://purl.obolibrary.org/obo/GARD_0008616 EquivalentTo 'systemic mastocytosis'
http://purl.obolibrary.org/obo/MONDO_0016580
congenital pulmonary airway malformation
http://purl.obolibrary.org/obo/GARD_0006232 EquivalentTo 'congenital pulmonary airway malformation'
'congenital pulmonary airway malformation' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C98892
'congenital pulmonary airway malformation' EquivalentTo http://purl.obolibrary.org/obo/SCTID_111318005
http://purl.obolibrary.org/obo/MONDO_0016581
conotruncal heart malformations
http://purl.obolibrary.org/obo/GARD_0008189 EquivalentTo 'conotruncal heart malformations'
http://purl.obolibrary.org/obo/MONDO_0016594
superficial siderosis
http://purl.obolibrary.org/obo/GARD_0009484 EquivalentTo 'superficial siderosis'
http://purl.obolibrary.org/obo/MONDO_0016595
inhalational anthrax
http://purl.obolibrary.org/obo/MESH_C571912 EquivalentTo 'inhalational anthrax'
http://purl.obolibrary.org/obo/MONDO_0016604
dysraphism-cleft lip/palate-limb reduction defects syndrome
http://purl.obolibrary.org/obo/GARD_0003438 EquivalentTo 'dysraphism-cleft lip/palate-limb reduction defects syndrome'
http://purl.obolibrary.org/obo/MONDO_0016407
oligomeganephronia
http://purl.obolibrary.org/obo/GARD_0004066 EquivalentTo 'oligomeganephronia'
http://purl.obolibrary.org/obo/MONDO_0016426
fusariosis
'fusariosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001795
http://purl.obolibrary.org/obo/MONDO_0016422
autoimmune polyendocrinopathy type 3
http://purl.obolibrary.org/obo/GARD_0010980 EquivalentTo 'autoimmune polyendocrinopathy type 3'
http://purl.obolibrary.org/obo/MONDO_0016443
papular elastorrhexis
'papular elastorrhexis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C4707
http://purl.obolibrary.org/obo/MONDO_0016459
2q23.1 microdeletion syndrome
'2q23.1 microdeletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
'2q23.1 microdeletion syndrome' SubClassOf 'chromosomal anomaly with epilepsy as a major feature'
http://purl.obolibrary.org/obo/MONDO_0016456
5q14.3 microdeletion syndrome
'5q14.3 microdeletion syndrome' SubClassOf 'chromosomal anomaly with epilepsy as a major feature'
'5q14.3 microdeletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
http://purl.obolibrary.org/obo/GARD_0012166 EquivalentTo '5q14.3 microdeletion syndrome'
http://purl.obolibrary.org/obo/MONDO_0016466
asbestosis
http://purl.obolibrary.org/obo/GARD_0005852 EquivalentTo 'asbestosis'
http://purl.obolibrary.org/obo/MONDO_0016467
isotretinoin syndrome
http://purl.obolibrary.org/obo/GARD_0000517 EquivalentTo 'isotretinoin syndrome'
http://purl.obolibrary.org/obo/MONDO_0016460
Polyvalvular heart disease syndrome
'Polyvalvular heart disease syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0016470
Ehlers-Danlos/osteogenesis imperfecta syndrome
'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0016483
intracranial berry aneurysm
'intracranial berry aneurysm' SubClassOf 'rare genetic epilepsy'
'intracranial berry aneurysm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_703226008
http://purl.obolibrary.org/obo/MONDO_0006946
renal osteodystrophy
http://purl.obolibrary.org/obo/GARD_0007551 EquivalentTo 'renal osteodystrophy'
http://purl.obolibrary.org/obo/MONDO_0006944
renal aminoaciduria
'renal aminoaciduria' EquivalentTo http://purl.obolibrary.org/obo/SCTID_35912001
http://purl.obolibrary.org/obo/MONDO_0006949
retinal drusen
'retinal drusen' EquivalentTo http://purl.obolibrary.org/obo/SCTID_247153005
http://purl.obolibrary.org/obo/MONDO_0006955
rheumatic heart disease
'rheumatic heart disease' SubClassOf 'heart valve disease'
http://purl.obolibrary.org/obo/ICD10_I05.I09 EquivalentTo 'rheumatic heart disease'
'rheumatic heart disease' SubClassOf 'heart disease'
http://purl.obolibrary.org/obo/MONDO_0006953
Rh isoimmunization
'Rh isoimmunization' EquivalentTo http://purl.obolibrary.org/obo/SCTID_44795003
http://purl.obolibrary.org/obo/MONDO_0006952
retinopathy of prematurity
http://purl.obolibrary.org/obo/GARD_0005695 EquivalentTo 'retinopathy of prematurity'
http://purl.obolibrary.org/obo/MONDO_0006967
septic abortion
'septic abortion' SubClassOf 'reproductive system disease'
http://purl.obolibrary.org/obo/MESH_D000031 EquivalentTo 'septic abortion'
'septic abortion' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001177
http://purl.obolibrary.org/obo/MONDO_0006979
steatitis
'steatitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_33882007
http://purl.obolibrary.org/obo/MONDO_0006978
splenic infarction
http://purl.obolibrary.org/obo/GARD_0009973 EquivalentTo 'splenic infarction'
http://purl.obolibrary.org/obo/MONDO_0006987
subvalvular aortic stenosis
'subvalvular aortic stenosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_204368006
http://purl.obolibrary.org/obo/MONDO_0006996
thyroid crisis (disease)
'thyroid crisis (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C112836
http://purl.obolibrary.org/obo/MONDO_0016312
5-fluorouracil poisoning
http://purl.obolibrary.org/obo/MESH_C531667 EquivalentTo '5-fluorouracil poisoning'
http://purl.obolibrary.org/obo/MONDO_0016311
Bockenheimer syndrome
http://purl.obolibrary.org/obo/GARD_0013063 EquivalentTo 'Bockenheimer syndrome'
http://purl.obolibrary.org/obo/MONDO_0016331
infantile systemic hyalinosis
'infantile systemic hyalinosis' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0016333
familial dilated cardiomyopathy
http://purl.obolibrary.org/obo/GARD_0000221 EquivalentTo 'familial dilated cardiomyopathy'
http://purl.obolibrary.org/obo/GARD_0002905 EquivalentTo 'familial dilated cardiomyopathy'
http://purl.obolibrary.org/obo/MONDO_0016349
congenital hydrocephalus
'congenital hydrocephalus' EquivalentTo http://purl.obolibrary.org/obo/SCTID_47032000
http://purl.obolibrary.org/obo/MONDO_0016345
non-familial restrictive cardiomyopathy
'non-familial restrictive cardiomyopathy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001473
http://purl.obolibrary.org/obo/MONDO_0016346
hydrocephalus-obesity-hypogonadism syndrome
http://purl.obolibrary.org/obo/GARD_0002775 EquivalentTo 'hydrocephalus-obesity-hypogonadism syndrome'
http://purl.obolibrary.org/obo/MONDO_0016344
hydranencephaly (disease)
http://purl.obolibrary.org/obo/GARD_0006681 EquivalentTo 'hydranencephaly (disease)'
http://purl.obolibrary.org/obo/MONDO_0016358
limited cutaneous systemic sclerosis
http://purl.obolibrary.org/obo/GARD_0001053 EquivalentTo 'limited cutaneous systemic sclerosis'
http://purl.obolibrary.org/obo/MONDO_0016359
limited systemic sclerosis
http://purl.obolibrary.org/obo/GARD_0009749 EquivalentTo 'limited systemic sclerosis'
http://purl.obolibrary.org/obo/MONDO_0016353
palmoplantar keratoderma-spastic paralysis syndrome
http://purl.obolibrary.org/obo/GARD_0003095 EquivalentTo 'palmoplantar keratoderma-spastic paralysis syndrome'
http://purl.obolibrary.org/obo/MONDO_0016367
dermatomyositis
http://purl.obolibrary.org/obo/GARD_0006263 EquivalentTo 'dermatomyositis'
http://purl.obolibrary.org/obo/MONDO_0016365
familial primary hyperparathyroidism
http://purl.obolibrary.org/obo/GARD_0002837 EquivalentTo 'familial primary hyperparathyroidism'
http://purl.obolibrary.org/obo/MONDO_0016366
maternal phenylketonuria
http://purl.obolibrary.org/obo/GARD_0003413 EquivalentTo 'maternal phenylketonuria'
http://purl.obolibrary.org/obo/MONDO_0016362
attenuated familial adenomatous polyposis
http://purl.obolibrary.org/obo/GARD_0008532 EquivalentTo 'attenuated familial adenomatous polyposis'
http://purl.obolibrary.org/obo/MONDO_0016377
Pitt-Hopkins-like syndrome
'Pitt-Hopkins-like syndrome' SubClassOf 'monogenic disease with epilepsy'
'Pitt-Hopkins-like syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
http://purl.obolibrary.org/obo/MONDO_0016370
Marchiafava-Bignami disease
'Marchiafava-Bignami disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001809
'Marchiafava-Bignami disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C97045
http://purl.obolibrary.org/obo/MONDO_0016373
isolated facial myokymia
http://purl.obolibrary.org/obo/ICD10_G51.4 EquivalentTo 'isolated facial myokymia'
http://purl.obolibrary.org/obo/MONDO_0016391
neonatal diabetes mellitus
http://purl.obolibrary.org/obo/GARD_0009852 EquivalentTo 'neonatal diabetes mellitus'
http://purl.obolibrary.org/obo/MONDO_0016385
hypogonadism-mitral valve prolapse-intellectual disability syndrome
http://purl.obolibrary.org/obo/GARD_0001078 EquivalentTo 'hypogonadism-mitral valve prolapse-intellectual disability syndrome'
http://purl.obolibrary.org/obo/MONDO_0016381
hypertrichosis lanuginosa congenita
http://purl.obolibrary.org/obo/GARD_0002865 EquivalentTo 'hypertrichosis lanuginosa congenita'
http://purl.obolibrary.org/obo/MONDO_0016383
nephrogenic diabetes insipidus
http://purl.obolibrary.org/obo/GARD_0007178 EquivalentTo 'nephrogenic diabetes insipidus'
http://purl.obolibrary.org/obo/MONDO_0016396
pontocerebellar hypoplasia type 1
http://purl.obolibrary.org/obo/GARD_0010704 EquivalentTo 'pontocerebellar hypoplasia type 1'
http://purl.obolibrary.org/obo/MONDO_0006835
lipoid nephrosis
http://purl.obolibrary.org/obo/GARD_0009147 EquivalentTo 'lipoid nephrosis'
http://purl.obolibrary.org/obo/MONDO_0006845
male genital tuberculosis
'male genital tuberculosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_240379005
http://purl.obolibrary.org/obo/MONDO_0006841
lymphangioendothelioma
'lymphangioendothelioma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_403975006
http://purl.obolibrary.org/obo/MONDO_0006851
meconium aspiration syndrome
http://purl.obolibrary.org/obo/GARD_0010494 EquivalentTo 'meconium aspiration syndrome'
http://purl.obolibrary.org/obo/MONDO_0006865
necrotizing ulcerative gingivitis
http://purl.obolibrary.org/obo/GARD_0005736 EquivalentTo 'necrotizing ulcerative gingivitis'
http://purl.obolibrary.org/obo/MONDO_0006861
myeloid sarcoma
http://purl.obolibrary.org/obo/GARD_0012763 EquivalentTo 'myeloid sarcoma'
http://purl.obolibrary.org/obo/MONDO_0006875
ocular hypertension
'ocular hypertension' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0006872
nut allergic reaction
'nut allergic reaction' EquivalentTo http://purl.obolibrary.org/obo/SCTID_91934008
http://purl.obolibrary.org/obo/MONDO_0006873
nutritional deficiency disease
'nutritional deficiency disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_363246002
'nutritional deficiency disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3669
http://purl.obolibrary.org/obo/MONDO_0006887
parametritis
'parametritis' SubClassOf 'inflammatory disease'
'parametritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043786
http://purl.obolibrary.org/obo/MONDO_0016205
IRVAN syndrome
http://purl.obolibrary.org/obo/GARD_0012868 EquivalentTo 'IRVAN syndrome'
http://purl.obolibrary.org/obo/MONDO_0006894
patellofemoral pain syndrome
'patellofemoral pain syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_430725003
http://purl.obolibrary.org/obo/MONDO_0006893
Pasteurella hemorrhagic septicemia
'Pasteurella hemorrhagic septicemia' SubClassOf 'pasteurellosis'
'Pasteurella hemorrhagic septicemia' EquivalentTo 'disease' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_747)
'Pasteurella hemorrhagic septicemia' SubClassOf 'realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_747
'Pasteurella hemorrhagic septicemia' EquivalentTo 'disease' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_747) and ('disease has feature' some http://purl.obolibrary.org/obo/HP_0100806)
'Pasteurella hemorrhagic septicemia' SubClassOf 'bacterial infectious disease with sepsis'
'Pasteurella hemorrhagic septicemia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_198462004
'Pasteurella hemorrhagic septicemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0040998
http://purl.obolibrary.org/obo/MONDO_0016217
mal de Debarquement
http://purl.obolibrary.org/obo/GARD_0006959 EquivalentTo 'mal de Debarquement'
http://purl.obolibrary.org/obo/MONDO_0016218
Guillain-Barre syndrome
http://purl.obolibrary.org/obo/GARD_0006554 EquivalentTo 'Guillain-Barre syndrome'
http://purl.obolibrary.org/obo/MONDO_0016219
dysmorphism-pectus carinatum-joint laxity syndrome
'dysmorphism-pectus carinatum-joint laxity syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'dysmorphism-pectus carinatum-joint laxity syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0016227
hereditary episodic ataxia
http://purl.obolibrary.org/obo/GARD_0009851 EquivalentTo 'hereditary episodic ataxia'
http://purl.obolibrary.org/obo/MONDO_0016222
spindle cell hemangioma
'spindle cell hemangioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0002856
http://purl.obolibrary.org/obo/MONDO_0100039
CDKL5 disorder
http://purl.obolibrary.org/obo/GARD_0012173 EquivalentTo 'CDKL5 disorder'
http://purl.obolibrary.org/obo/MONDO_0016247
malignant mixed mullerian tumor of the ovary
http://purl.obolibrary.org/obo/GARD_0007296 EquivalentTo 'malignant mixed mullerian tumor of the ovary'
http://purl.obolibrary.org/obo/MONDO_0016242
hemoglobin c disease
http://purl.obolibrary.org/obo/MESH_C531699 EquivalentTo 'hemoglobin c disease'
http://purl.obolibrary.org/obo/MONDO_0016244
atypical hemolytic-uremic syndrome
http://purl.obolibrary.org/obo/GARD_0006240 EquivalentTo 'atypical hemolytic-uremic syndrome'
http://purl.obolibrary.org/obo/MONDO_0016241
alternating hemiplegia of childhood
http://purl.obolibrary.org/obo/GARD_0000011 EquivalentTo 'alternating hemiplegia of childhood'
http://purl.obolibrary.org/obo/MONDO_0016259
carcinosarcoma of the corpus uteri
http://purl.obolibrary.org/obo/GARD_0012335 EquivalentTo 'carcinosarcoma of the corpus uteri'
http://purl.obolibrary.org/obo/MONDO_0016256
Hennekam syndrome
http://purl.obolibrary.org/obo/GARD_0003318 EquivalentTo 'Hennekam syndrome'
'Hennekam syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0100014
autoimmune retinopathy
http://purl.obolibrary.org/obo/GARD_0012034 EquivalentTo 'autoimmune retinopathy'
http://purl.obolibrary.org/obo/MONDO_0016264
autoimmune hepatitis
http://purl.obolibrary.org/obo/GARD_0005871 EquivalentTo 'autoimmune hepatitis'
http://purl.obolibrary.org/obo/MONDO_0016290
Hern
http://purl.obolibrary.org/obo/GARD_0003491 EquivalentTo 'Hern'
http://purl.obolibrary.org/obo/MONDO_0016291
craniosynostosis, Herrmann-Opitz type
http://purl.obolibrary.org/obo/GARD_0002671 EquivalentTo 'craniosynostosis, Herrmann-Opitz type'
http://purl.obolibrary.org/obo/MONDO_0016292
nodular neuronal heterotopia
'nodular neuronal heterotopia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_253151003
http://purl.obolibrary.org/obo/MONDO_0016293
congenital stationary night blindness
http://purl.obolibrary.org/obo/GARD_0003995 EquivalentTo 'congenital stationary night blindness'
http://purl.obolibrary.org/obo/MONDO_0016294
Hirschsprung disease-type D brachydactyly syndrome
'Hirschsprung disease-type D brachydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0002700 EquivalentTo 'Hirschsprung disease-type D brachydactyly syndrome'
http://purl.obolibrary.org/obo/MONDO_0016295
neuronal ceroid lipofuscinosis
http://purl.obolibrary.org/obo/GARD_0010739 EquivalentTo 'neuronal ceroid lipofuscinosis'
http://purl.obolibrary.org/obo/MONDO_0006903
peroneal nerve paralysis
'peroneal nerve paralysis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_399088004
http://purl.obolibrary.org/obo/MONDO_0006901
peritoneal neoplasm
'peritoneal neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_126865007
http://purl.obolibrary.org/obo/MONDO_0006905
pigmented spindle cell nevus
http://purl.obolibrary.org/obo/MESH_D018331 EquivalentTo 'pigmented spindle cell nevus'
'pigmented spindle cell nevus' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254812004
http://purl.obolibrary.org/obo/MONDO_0006918
posterior uveitis
http://purl.obolibrary.org/obo/GARD_0004457 EquivalentTo 'posterior uveitis'
http://purl.obolibrary.org/obo/MONDO_0006922
Anaplasmataceae infectious disease
'Anaplasmataceae infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_422167001
http://purl.obolibrary.org/obo/MONDO_0006929
Proteus infectious disease
'Proteus infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_186437007
http://purl.obolibrary.org/obo/MONDO_0006926
haemophilus infectious disease
'haemophilus infectious disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34654
'haemophilus infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_41659003
http://purl.obolibrary.org/obo/MONDO_0006937
pulpitis
'pulpitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
http://purl.obolibrary.org/obo/MONDO_0036595
ovarian sertoli-leydig cell tumor
'ovarian sertoli-leydig cell tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000429
'ovarian sertoli-leydig cell tumor' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254866007
http://purl.obolibrary.org/obo/DOID_2348
http://purl.obolibrary.org/obo/DOID_2348 EquivalentTo 'arteriosclerotic cardiovascular disease'
http://purl.obolibrary.org/obo/DOID_2348 EquivalentTo 'arteriosclerosis (disease)'
http://purl.obolibrary.org/obo/MONDO_0012619
MRT11
http://purl.obolibrary.org/obo/MESH_C567012 EquivalentTo 'MRT11'
http://purl.obolibrary.org/obo/MONDO_0012617
MRT9
http://purl.obolibrary.org/obo/MESH_C567014 EquivalentTo 'MRT9'
http://purl.obolibrary.org/obo/MONDO_0012618
MRT10
http://purl.obolibrary.org/obo/MESH_C567013 EquivalentTo 'MRT10'
http://purl.obolibrary.org/obo/MONDO_0012611
polyhydramnios, megalencephaly, and symptomatic epilepsy
http://purl.obolibrary.org/obo/GARD_0012913 EquivalentTo 'polyhydramnios, megalencephaly, and symptomatic epilepsy'
http://purl.obolibrary.org/obo/MONDO_0012622
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
http://purl.obolibrary.org/obo/GARD_0012652 EquivalentTo 'leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome'
http://purl.obolibrary.org/obo/MESH_C567009 EquivalentTo 'leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome'
http://purl.obolibrary.org/obo/MONDO_0012623
MRT4
http://purl.obolibrary.org/obo/MESH_C567008 EquivalentTo 'MRT4'
http://purl.obolibrary.org/obo/MONDO_0012620
HPC10
http://purl.obolibrary.org/obo/MESH_C567011 EquivalentTo 'HPC10'
http://purl.obolibrary.org/obo/MONDO_0012637
COG1-CDG
http://purl.obolibrary.org/obo/GARD_0010226 EquivalentTo 'COG1-CDG'
http://purl.obolibrary.org/obo/MONDO_0012635
COG8-CDG
http://purl.obolibrary.org/obo/GARD_0012411 EquivalentTo 'COG8-CDG'
http://purl.obolibrary.org/obo/MONDO_0012636
RLS6
http://purl.obolibrary.org/obo/GARD_0010273 EquivalentTo 'RLS6'
http://purl.obolibrary.org/obo/MONDO_0012639
hereditary spastic paraplegia 18
http://purl.obolibrary.org/obo/GARD_0004922 EquivalentTo 'hereditary spastic paraplegia 18'
http://purl.obolibrary.org/obo/MONDO_0012646
GLC1H
http://purl.obolibrary.org/obo/MESH_C566976 EquivalentTo 'GLC1H'
http://purl.obolibrary.org/obo/MONDO_0012641
RLS5
http://purl.obolibrary.org/obo/GARD_0010272 EquivalentTo 'RLS5'
http://purl.obolibrary.org/obo/MONDO_0012645
GLC1N
http://purl.obolibrary.org/obo/MESH_C566977 EquivalentTo 'GLC1N'
http://purl.obolibrary.org/obo/MONDO_0012642
MAFD4
http://purl.obolibrary.org/obo/MESH_C567073 EquivalentTo 'MAFD4'
http://purl.obolibrary.org/obo/MONDO_0012643
hereditary spastic paraplegia 32
http://purl.obolibrary.org/obo/GARD_0012749 EquivalentTo 'hereditary spastic paraplegia 32'
http://purl.obolibrary.org/obo/MONDO_0012659
age related macular degeneration 9
'age related macular degeneration 9' EquivalentTo http://www.orpha.net/ORDO/Orphanet_160064
http://purl.obolibrary.org/obo/MONDO_0012657
MGS
http://purl.obolibrary.org/obo/GARD_0010687 EquivalentTo 'MGS'
http://purl.obolibrary.org/obo/MONDO_0012651
spastic ataxia 2
http://purl.obolibrary.org/obo/MESH_C566969 EquivalentTo 'spastic ataxia 2'
http://purl.obolibrary.org/obo/MONDO_0012652
autosomal recessive limb-girdle muscular dystrophy type 2L
http://purl.obolibrary.org/obo/GARD_0012536 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2L'
http://purl.obolibrary.org/obo/MONDO_0012656
lethal congenital contracture syndrome 3
'lethal congenital contracture syndrome 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MESH_C566961 EquivalentTo 'lethal congenital contracture syndrome 3'
http://purl.obolibrary.org/obo/MONDO_0012669
Legius syndrome
'Legius syndrome' SubClassOf 'rare genetic skin disease'
http://purl.obolibrary.org/obo/MONDO_0012665
cataract 33
http://purl.obolibrary.org/obo/MESH_C566955 EquivalentTo 'cataract 33'
http://purl.obolibrary.org/obo/MONDO_0012674
age related macular degeneration 10
'age related macular degeneration 10' EquivalentTo http://www.orpha.net/ORDO/Orphanet_353890
http://purl.obolibrary.org/obo/MONDO_0012671
ETM3
http://purl.obolibrary.org/obo/MESH_C566949 EquivalentTo 'ETM3'
http://purl.obolibrary.org/obo/MONDO_0012672
cholelithiasis
'cholelithiasis' EquivalentTo http://www.orpha.net/ORDO/Orphanet_117685
http://purl.obolibrary.org/obo/MONDO_0012678
ATFB5
http://purl.obolibrary.org/obo/MESH_C566932 EquivalentTo 'ATFB5'
http://purl.obolibrary.org/obo/MONDO_0012685
MAFD5
http://purl.obolibrary.org/obo/MESH_C567074 EquivalentTo 'MAFD5'
http://purl.obolibrary.org/obo/MONDO_0012686
MAFD6
http://purl.obolibrary.org/obo/MESH_C567075 EquivalentTo 'MAFD6'
http://purl.obolibrary.org/obo/MONDO_0012687
familial cavitary optic disc anomaly
http://purl.obolibrary.org/obo/MESH_C566924 EquivalentTo 'familial cavitary optic disc anomaly'
http://purl.obolibrary.org/obo/MONDO_0012696
OTSC4
http://purl.obolibrary.org/obo/MESH_C566914 EquivalentTo 'OTSC4'
http://purl.obolibrary.org/obo/MONDO_0012693
glycogen storage disease due to muscle and heart glycogen synthase deficiency
http://purl.obolibrary.org/obo/GARD_0010760 EquivalentTo 'glycogen storage disease due to muscle and heart glycogen synthase deficiency'
http://purl.obolibrary.org/obo/MONDO_0012699
autosomal recessive limb-girdle muscular dystrophy type 2M
http://purl.obolibrary.org/obo/GARD_0012538 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2M'
http://purl.obolibrary.org/obo/MONDO_0012697
OTSC7
http://purl.obolibrary.org/obo/MESH_C566913 EquivalentTo 'OTSC7'
http://purl.obolibrary.org/obo/MONDO_0036688
rhabdomyoma
http://purl.obolibrary.org/obo/MESH_D012207 EquivalentTo 'rhabdomyoma'
http://purl.obolibrary.org/obo/MONDO_0012503
thiopurine S-methyltransferase deficiency
http://purl.obolibrary.org/obo/GARD_0005173 EquivalentTo 'thiopurine S-methyltransferase deficiency'
'thiopurine S-methyltransferase deficiency' EquivalentTo http://www.orpha.net/ORDO/Orphanet_3315
http://purl.obolibrary.org/obo/MONDO_0012508
agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
http://purl.obolibrary.org/obo/GARD_0010011 EquivalentTo 'agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome'
http://purl.obolibrary.org/obo/MONDO_0012516
mandibulofacial dysostosis-microcephaly syndrome
http://purl.obolibrary.org/obo/GARD_0010056 EquivalentTo 'mandibulofacial dysostosis-microcephaly syndrome'
http://purl.obolibrary.org/obo/MONDO_0012517
atypical Gaucher disease due to saposin C deficiency
http://purl.obolibrary.org/obo/GARD_0012503 EquivalentTo 'atypical Gaucher disease due to saposin C deficiency'
http://purl.obolibrary.org/obo/MONDO_0012514
hypomyelinating leukodystrophy 5
http://purl.obolibrary.org/obo/GARD_0011980 EquivalentTo 'hypomyelinating leukodystrophy 5'
http://purl.obolibrary.org/obo/MONDO_0012515
GLC1M
http://purl.obolibrary.org/obo/MESH_C566436 EquivalentTo 'GLC1M'
http://purl.obolibrary.org/obo/MONDO_0012527
cataract 11 multiple types
http://purl.obolibrary.org/obo/GARD_0010228 EquivalentTo 'cataract 11 multiple types'
http://purl.obolibrary.org/obo/MONDO_0012520
insulin-resistance syndrome type A
http://purl.obolibrary.org/obo/GARD_0003008 EquivalentTo 'insulin-resistance syndrome type A'
http://purl.obolibrary.org/obo/MONDO_0012536
osteogenesis imperfecta type 7
http://purl.obolibrary.org/obo/GARD_0008701 EquivalentTo 'osteogenesis imperfecta type 7'
http://purl.obolibrary.org/obo/MONDO_0012537
SHFLD2
http://purl.obolibrary.org/obo/MESH_C565199 EquivalentTo 'SHFLD2'
http://purl.obolibrary.org/obo/MONDO_0012531
xeroderma pigmentosum group B
http://purl.obolibrary.org/obo/MESH_C562590 EquivalentTo 'xeroderma pigmentosum group B'
http://purl.obolibrary.org/obo/GARD_0005625 EquivalentTo 'xeroderma pigmentosum group B'
http://purl.obolibrary.org/obo/MONDO_0012534
combined oxidative phosphorylation defect type 4
http://purl.obolibrary.org/obo/MESH_C565690 EquivalentTo 'combined oxidative phosphorylation defect type 4'
http://purl.obolibrary.org/obo/MONDO_0012532
hereditary hemorrhagic telangiectasia type 4
http://purl.obolibrary.org/obo/MESH_C565691 EquivalentTo 'hereditary hemorrhagic telangiectasia type 4'
http://purl.obolibrary.org/obo/MONDO_0012549
autosomal recessive ataxia, Beauce type
http://purl.obolibrary.org/obo/GARD_0012234 EquivalentTo 'autosomal recessive ataxia, Beauce type'
http://purl.obolibrary.org/obo/MONDO_0012548
Kostmann syndrome
http://purl.obolibrary.org/obo/GARD_0000302 EquivalentTo 'Kostmann syndrome'
http://purl.obolibrary.org/obo/MONDO_0012541
deafness with labyrinthine aplasia, microtia, and microdontia
http://purl.obolibrary.org/obo/GARD_0010707 EquivalentTo 'deafness with labyrinthine aplasia, microtia, and microdontia'
http://purl.obolibrary.org/obo/MONDO_0012545
neutral lipid storage myopathy
http://purl.obolibrary.org/obo/GARD_0010288 EquivalentTo 'neutral lipid storage myopathy'
http://purl.obolibrary.org/obo/MONDO_0012543
OPA5
http://purl.obolibrary.org/obo/MESH_C537126 EquivalentTo 'OPA5'
http://purl.obolibrary.org/obo/GARD_0010201 EquivalentTo 'OPA5'
http://purl.obolibrary.org/obo/MONDO_0012551
AA2
http://purl.obolibrary.org/obo/MESH_C565186 EquivalentTo 'AA2'
http://purl.obolibrary.org/obo/MONDO_0012556
DK1-CDG
http://purl.obolibrary.org/obo/GARD_0012393 EquivalentTo 'DK1-CDG'
http://purl.obolibrary.org/obo/MONDO_0012574
Potocki-Lupski syndrome
http://purl.obolibrary.org/obo/GARD_0010145 EquivalentTo 'Potocki-Lupski syndrome'
http://purl.obolibrary.org/obo/MONDO_0012576
PSNP3
http://purl.obolibrary.org/obo/MESH_C567050 EquivalentTo 'PSNP3'
http://purl.obolibrary.org/obo/MONDO_0012586
coronary artery disease, autosomal dominant 2
'coronary artery disease, autosomal dominant 2' EquivalentTo http://www.orpha.net/ORDO/Orphanet_159752
http://purl.obolibrary.org/obo/MONDO_0012583
STHAG5
http://purl.obolibrary.org/obo/MESH_C565757 EquivalentTo 'STHAG5'
http://purl.obolibrary.org/obo/MONDO_0012589
Pitt-Hopkins syndrome
'Pitt-Hopkins syndrome' SubClassOf 'monogenic disease with epilepsy'
'Pitt-Hopkins syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
http://purl.obolibrary.org/obo/MONDO_0012581
osteogenesis imperfecta type 8
http://purl.obolibrary.org/obo/GARD_0010152 EquivalentTo 'osteogenesis imperfecta type 8'
http://purl.obolibrary.org/obo/MONDO_0012580
hereditary pulmonary alveolar proteinosis
http://purl.obolibrary.org/obo/GARD_0004582 EquivalentTo 'hereditary pulmonary alveolar proteinosis'
http://purl.obolibrary.org/obo/MESH_C535832 EquivalentTo 'hereditary pulmonary alveolar proteinosis'
http://purl.obolibrary.org/obo/MONDO_0012596
PSAT deficiency
http://purl.obolibrary.org/obo/GARD_0013273 EquivalentTo 'PSAT deficiency'
http://purl.obolibrary.org/obo/MONDO_0012598
GINGF4
http://purl.obolibrary.org/obo/GARD_0002475 EquivalentTo 'GINGF4'
http://purl.obolibrary.org/obo/MONDO_0012592
osteogenesis imperfecta type 11
http://purl.obolibrary.org/obo/GARD_0012875 EquivalentTo 'osteogenesis imperfecta type 11'
http://purl.obolibrary.org/obo/MONDO_0012591
osteogenesis imperfecta type 5
http://purl.obolibrary.org/obo/GARD_0008699 EquivalentTo 'osteogenesis imperfecta type 5'
http://purl.obolibrary.org/obo/MONDO_0012387
osteosclerosis-ichthyosis-premature ovarian failure syndrome
'osteosclerosis-ichthyosis-premature ovarian failure syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/GARD_0009904 EquivalentTo 'osteosclerosis-ichthyosis-premature ovarian failure syndrome'
'osteosclerosis-ichthyosis-premature ovarian failure syndrome' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0012388
MYP11
http://purl.obolibrary.org/obo/MESH_C566490 EquivalentTo 'MYP11'
http://purl.obolibrary.org/obo/MONDO_0012389
MYP12
http://purl.obolibrary.org/obo/MESH_C566489 EquivalentTo 'MYP12'
http://purl.obolibrary.org/obo/MONDO_0012380
autosomal dominant nonsyndromic deafness 53
http://purl.obolibrary.org/obo/GARD_0009934 EquivalentTo 'autosomal dominant nonsyndromic deafness 53'
http://purl.obolibrary.org/obo/MONDO_0012383
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
'primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C123729
http://purl.obolibrary.org/obo/MONDO_0012381
hyperinsulinism due to INSR deficiency
http://purl.obolibrary.org/obo/MESH_C566494 EquivalentTo 'hyperinsulinism due to INSR deficiency'
http://purl.obolibrary.org/obo/MONDO_0012396
exercise-induced hyperinsulinism
http://purl.obolibrary.org/obo/GARD_0009932 EquivalentTo 'exercise-induced hyperinsulinism'
'exercise-induced hyperinsulinism' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C131839
http://purl.obolibrary.org/obo/MONDO_0012395
cataract 18
http://purl.obolibrary.org/obo/GARD_0009892 EquivalentTo 'cataract 18'
http://purl.obolibrary.org/obo/MONDO_0012393
congenital brain dysgenesis due to glutamine synthetase deficiency
http://purl.obolibrary.org/obo/GARD_0009848 EquivalentTo 'congenital brain dysgenesis due to glutamine synthetase deficiency'
http://purl.obolibrary.org/obo/MONDO_0012406
HRPT3
http://purl.obolibrary.org/obo/MESH_C566450 EquivalentTo 'HRPT3'
http://purl.obolibrary.org/obo/MONDO_0012407
pyridoxal phosphate-responsive seizures
http://purl.obolibrary.org/obo/GARD_0010730 EquivalentTo 'pyridoxal phosphate-responsive seizures'
http://purl.obolibrary.org/obo/MONDO_0012419
age related macular degeneration 7
'age related macular degeneration 7' EquivalentTo http://www.orpha.net/ORDO/Orphanet_138706
http://purl.obolibrary.org/obo/MONDO_0012413
syndromic microphthalmia type 5
http://purl.obolibrary.org/obo/GARD_0003692 EquivalentTo 'syndromic microphthalmia type 5'
http://purl.obolibrary.org/obo/MESH_C566441 EquivalentTo 'syndromic microphthalmia type 5'
http://purl.obolibrary.org/obo/MONDO_0012414
neuronal ceroid lipofuscinosis 10
http://purl.obolibrary.org/obo/MESH_C566438 EquivalentTo 'neuronal ceroid lipofuscinosis 10'
http://purl.obolibrary.org/obo/MONDO_0012411
giant axonal neuropathy 2
http://purl.obolibrary.org/obo/GARD_0012447 EquivalentTo 'giant axonal neuropathy 2'
http://purl.obolibrary.org/obo/MONDO_0012428
KYPSC1
http://purl.obolibrary.org/obo/MESH_C565711 EquivalentTo 'KYPSC1'
http://purl.obolibrary.org/obo/MONDO_0012429
Aicardi-Goutieres syndrome 2
http://purl.obolibrary.org/obo/GARD_0010894 EquivalentTo 'Aicardi-Goutieres syndrome 2'
http://purl.obolibrary.org/obo/MONDO_0012426
immunodeficiency 25
http://purl.obolibrary.org/obo/MESH_C565712 EquivalentTo 'immunodeficiency 25'
http://purl.obolibrary.org/obo/MONDO_0012427
Loeys-Dietz syndrome 2
http://purl.obolibrary.org/obo/GARD_0010586 EquivalentTo 'Loeys-Dietz syndrome 2'
http://purl.obolibrary.org/obo/MESH_C537783 EquivalentTo 'Loeys-Dietz syndrome 2'
http://purl.obolibrary.org/obo/MONDO_0012422
type 1 diabetes mellitus 19
'type 1 diabetes mellitus 19' EquivalentTo http://www.orpha.net/ORDO/Orphanet_402570
http://purl.obolibrary.org/obo/MONDO_0012435
3-methylglutaconic aciduria type 5
http://purl.obolibrary.org/obo/GARD_0012964 EquivalentTo '3-methylglutaconic aciduria type 5'
http://purl.obolibrary.org/obo/MONDO_0012449
spinocerebellar ataxia type 23
http://purl.obolibrary.org/obo/MESH_C537201 EquivalentTo 'spinocerebellar ataxia type 23'
http://purl.obolibrary.org/obo/GARD_0009950 EquivalentTo 'spinocerebellar ataxia type 23'
http://purl.obolibrary.org/obo/MONDO_0012443
ANIB4
http://purl.obolibrary.org/obo/MESH_C565700 EquivalentTo 'ANIB4'
http://purl.obolibrary.org/obo/MONDO_0012440
migraine with or without aura, susceptibility to, 10
'migraine with or without aura, susceptibility to, 10' SubClassOf 'rare genetic vascular disease'
http://purl.obolibrary.org/obo/MONDO_0012441
migraine with or without aura, susceptibility to, 11
'migraine with or without aura, susceptibility to, 11' SubClassOf 'rare genetic vascular disease'
http://purl.obolibrary.org/obo/MONDO_0012447
synpolydactyly type 3
http://purl.obolibrary.org/obo/MESH_C565216 EquivalentTo 'synpolydactyly type 3'
http://purl.obolibrary.org/obo/MONDO_0012444
neurodegeneration with brain iron accumulation 2B
http://purl.obolibrary.org/obo/GARD_0010688 EquivalentTo 'neurodegeneration with brain iron accumulation 2B'
http://purl.obolibrary.org/obo/MONDO_0012453
hereditary spastic paraplegia 31
http://purl.obolibrary.org/obo/GARD_0010817 EquivalentTo 'hereditary spastic paraplegia 31'
http://purl.obolibrary.org/obo/MONDO_0012457
IHPS2
http://purl.obolibrary.org/obo/MESH_C565208 EquivalentTo 'IHPS2'
http://purl.obolibrary.org/obo/MONDO_0012456
congenital primary aphakia
http://purl.obolibrary.org/obo/GARD_0009952 EquivalentTo 'congenital primary aphakia'
http://purl.obolibrary.org/obo/MONDO_0012450
spinocerebellar ataxia type 28
http://purl.obolibrary.org/obo/GARD_0009951 EquivalentTo 'spinocerebellar ataxia type 28'
http://purl.obolibrary.org/obo/MESH_C537205 EquivalentTo 'spinocerebellar ataxia type 28'
http://purl.obolibrary.org/obo/MONDO_0012465
hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
'hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0012462
autosomal recessive frontotemporal pachygyria
http://purl.obolibrary.org/obo/GARD_0010003 EquivalentTo 'autosomal recessive frontotemporal pachygyria'
http://purl.obolibrary.org/obo/MONDO_0012469
MYP14
http://purl.obolibrary.org/obo/MESH_C565202 EquivalentTo 'MYP14'
http://purl.obolibrary.org/obo/MONDO_0012466
Parkinson disease 13, autosomal dominant, susceptibility to
http://purl.obolibrary.org/obo/MESH_C565204 EquivalentTo 'Parkinson disease 13, autosomal dominant, susceptibility to'
http://purl.obolibrary.org/obo/MONDO_0012475
cone dystrophy with supernormal rod response
http://purl.obolibrary.org/obo/GARD_0010649 EquivalentTo 'cone dystrophy with supernormal rod response'
http://purl.obolibrary.org/obo/MONDO_0012478
OFC9
http://purl.obolibrary.org/obo/MESH_C563675 EquivalentTo 'OFC9'
http://purl.obolibrary.org/obo/MONDO_0012471
Aicardi-Goutieres syndrome 3
http://purl.obolibrary.org/obo/GARD_0010895 EquivalentTo 'Aicardi-Goutieres syndrome 3'
http://purl.obolibrary.org/obo/MONDO_0012472
Aicardi-Goutieres syndrome 4
http://purl.obolibrary.org/obo/GARD_0010896 EquivalentTo 'Aicardi-Goutieres syndrome 4'
http://purl.obolibrary.org/obo/MONDO_0012487
alopecia-mental retardation syndrome 2
http://purl.obolibrary.org/obo/GARD_0004291 EquivalentTo 'alopecia-mental retardation syndrome 2'
http://purl.obolibrary.org/obo/MONDO_0012484
prosopagnosia, hereditary
http://purl.obolibrary.org/obo/GARD_0010035 EquivalentTo 'prosopagnosia, hereditary'
http://purl.obolibrary.org/obo/MONDO_0012495
spondyloepimetaphyseal dysplasia, GeneviC(ve type
http://purl.obolibrary.org/obo/GARD_0010057 EquivalentTo 'spondyloepimetaphyseal dysplasia, GeneviC(ve type'
http://purl.obolibrary.org/obo/MONDO_0012496
Koolen de Vries syndrome
http://purl.obolibrary.org/obo/GARD_0010727 EquivalentTo 'Koolen de Vries syndrome'
http://purl.obolibrary.org/obo/MONDO_0012499
Buruli ulcer, susceptibility to
http://purl.obolibrary.org/obo/GARD_0009520 EquivalentTo 'Buruli ulcer, susceptibility to'
http://purl.obolibrary.org/obo/MONDO_0012493
RLS4
http://purl.obolibrary.org/obo/GARD_0010271 EquivalentTo 'RLS4'
http://purl.obolibrary.org/obo/MONDO_0012492
RLS3
http://purl.obolibrary.org/obo/GARD_0010270 EquivalentTo 'RLS3'
http://purl.obolibrary.org/obo/MONDO_0012269
chromosome 3q29 microdeletion syndrome
http://purl.obolibrary.org/obo/GARD_0011974 EquivalentTo 'chromosome 3q29 microdeletion syndrome'
http://purl.obolibrary.org/obo/MONDO_0012262
CFEOM3C
http://purl.obolibrary.org/obo/MESH_C567666 EquivalentTo 'CFEOM3C'
http://purl.obolibrary.org/obo/MONDO_0012277
myofibrillar myopathy 4
http://purl.obolibrary.org/obo/GARD_0001886 EquivalentTo 'myofibrillar myopathy 4'
http://purl.obolibrary.org/obo/MONDO_0012278
PSNP2
http://purl.obolibrary.org/obo/MESH_C563717 EquivalentTo 'PSNP2'
http://purl.obolibrary.org/obo/MONDO_0012270
Tukel syndrome
http://purl.obolibrary.org/obo/GARD_0009814 EquivalentTo 'Tukel syndrome'
http://purl.obolibrary.org/obo/MONDO_0012274
acromesomelic dysplasia, Demirhan type
http://purl.obolibrary.org/obo/MESH_C537913 EquivalentTo 'acromesomelic dysplasia, Demirhan type'
http://purl.obolibrary.org/obo/MONDO_0012271
mesoaxial synostotic syndactyly with phalangeal reduction
http://purl.obolibrary.org/obo/GARD_0010590 EquivalentTo 'mesoaxial synostotic syndactyly with phalangeal reduction'
http://purl.obolibrary.org/obo/MONDO_0012280
Goldberg-Shprintzen megacolon syndrome
http://purl.obolibrary.org/obo/GARD_0009849 EquivalentTo 'Goldberg-Shprintzen megacolon syndrome'
http://purl.obolibrary.org/obo/MONDO_0012297
SPOAN syndrome
http://purl.obolibrary.org/obo/MESH_C563702 EquivalentTo 'SPOAN syndrome'
http://purl.obolibrary.org/obo/MONDO_0012298
omphalocele, diaphragmatic hernia, and radial ray defects
http://purl.obolibrary.org/obo/GARD_0010354 EquivalentTo 'omphalocele, diaphragmatic hernia, and radial ray defects'
http://purl.obolibrary.org/obo/MONDO_0012291
immunoglobulin a deficiency 2
'immunoglobulin a deficiency 2' EquivalentTo http://www.orpha.net/ORDO/Orphanet_120169
http://purl.obolibrary.org/obo/MONDO_0012290
CEDNIK syndrome
http://purl.obolibrary.org/obo/GARD_0009940 EquivalentTo 'CEDNIK syndrome'
http://purl.obolibrary.org/obo/MONDO_0012295
complement component 5 deficiency
http://purl.obolibrary.org/obo/GARD_0006878 EquivalentTo 'complement component 5 deficiency'
http://purl.obolibrary.org/obo/MONDO_0002918
clear cell meningioma
'clear cell meningioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000180
http://purl.obolibrary.org/obo/MONDO_0002911
brain stem glioma
'brain stem glioma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_444545003
http://purl.obolibrary.org/obo/MONDO_0002914
childhood brain stem neoplasm
'childhood brain stem neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001767
http://purl.obolibrary.org/obo/MONDO_0002920
malignant ovarian Brenner tumor
'malignant ovarian Brenner tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000357
http://purl.obolibrary.org/obo/MONDO_0002926
clear cell sarcoma
'clear cell sarcoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008498
http://purl.obolibrary.org/obo/MONDO_0002928
carcinosarcoma
http://purl.obolibrary.org/obo/GARD_0006966 EquivalentTo 'carcinosarcoma'
http://purl.obolibrary.org/obo/MONDO_0002933
osteosclerosis
'osteosclerosis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C41236
http://purl.obolibrary.org/obo/MONDO_0002949
morpheaform basal cell carcinoma
'morpheaform basal cell carcinoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_403913006
http://purl.obolibrary.org/obo/MONDO_0002946
gynatresia
'gynatresia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001335
http://purl.obolibrary.org/obo/MONDO_0002955
vulva basal cell carcinoma
'vulva basal cell carcinoma' EquivalentTo http://www.orpha.net/ORDO/Orphanet_494451
http://purl.obolibrary.org/obo/MONDO_0002971
amelanotic melanoma
'amelanotic melanoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001937
http://purl.obolibrary.org/obo/MONDO_0002984
reticulohistiocytic granuloma
http://purl.obolibrary.org/obo/GARD_0012967 EquivalentTo 'reticulohistiocytic granuloma'
http://purl.obolibrary.org/obo/MONDO_0002987
spongiotic dermatitis
'spongiotic dermatitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000768
http://purl.obolibrary.org/obo/MONDO_0012308
joubert syndrome with renal defect
'joubert syndrome with renal defect' EquivalentTo http://purl.obolibrary.org/obo/SCTID_716999001
http://purl.obolibrary.org/obo/MONDO_0012306
cardiomyopathy, familial restrictive, 2
http://purl.obolibrary.org/obo/MESH_C566512 EquivalentTo 'cardiomyopathy, familial restrictive, 2'
http://purl.obolibrary.org/obo/MONDO_0012303
migraine with or without aura, susceptibility to, 8
'migraine with or without aura, susceptibility to, 8' SubClassOf 'rare genetic vascular disease'
http://purl.obolibrary.org/obo/MONDO_0012301
mitochondrial dna depletion syndrome, myopathic form
http://purl.obolibrary.org/obo/MESH_C563698 EquivalentTo 'mitochondrial dna depletion syndrome, myopathic form'
http://purl.obolibrary.org/obo/MONDO_0012302
PFM3
http://purl.obolibrary.org/obo/MESH_C563697 EquivalentTo 'PFM3'
http://purl.obolibrary.org/obo/MONDO_0002995
small intestine neuroendocrine tumor, well differentiated, low or intermediate grade
'small intestine neuroendocrine tumor, well differentiated, low or intermediate grade' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001928
http://purl.obolibrary.org/obo/MONDO_0002996
cavernous sinus meningioma
'cavernous sinus meningioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0002993
pancreatic somatostatinoma
'pancreatic somatostatinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001964
http://purl.obolibrary.org/obo/MONDO_0012314
short Qt syndrome type 3
http://purl.obolibrary.org/obo/MESH_C566504 EquivalentTo 'short Qt syndrome type 3'
http://purl.obolibrary.org/obo/MONDO_0012315
distal 10q deletion syndrome
http://purl.obolibrary.org/obo/GARD_0003711 EquivalentTo 'distal 10q deletion syndrome'
http://purl.obolibrary.org/obo/MONDO_0012312
short Qt syndrome type 1
http://purl.obolibrary.org/obo/MESH_C566506 EquivalentTo 'short Qt syndrome type 1'
http://purl.obolibrary.org/obo/MONDO_0012313
short Qt syndrome type 2
http://purl.obolibrary.org/obo/MESH_C566505 EquivalentTo 'short Qt syndrome type 2'
http://purl.obolibrary.org/obo/MONDO_0012324
14q22q23 microdeletion syndrome
http://purl.obolibrary.org/obo/GARD_0002384 EquivalentTo '14q22q23 microdeletion syndrome'
'14q22q23 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0012330
Talo-patello-scaphoid osteolysis
http://purl.obolibrary.org/obo/GARD_0010061 EquivalentTo 'Talo-patello-scaphoid osteolysis'
http://purl.obolibrary.org/obo/MONDO_0012331
migraine with aura, susceptibility to, 9
'migraine with aura, susceptibility to, 9' SubClassOf 'rare genetic vascular disease'
http://purl.obolibrary.org/obo/MONDO_0012337
GLC1I
http://purl.obolibrary.org/obo/MESH_C565724 EquivalentTo 'GLC1I'
http://purl.obolibrary.org/obo/MONDO_0012334
hereditary spastic paraplegia 29
http://purl.obolibrary.org/obo/GARD_0009729 EquivalentTo 'hereditary spastic paraplegia 29'
http://purl.obolibrary.org/obo/MONDO_0012335
obesity due to pro-opiomelanocortin deficiency
http://purl.obolibrary.org/obo/GARD_0010823 EquivalentTo 'obesity due to pro-opiomelanocortin deficiency'
http://purl.obolibrary.org/obo/MONDO_0012349
spondylocostal dysostosis 3, autosomal recessive
http://purl.obolibrary.org/obo/GARD_0004973 EquivalentTo 'spondylocostal dysostosis 3, autosomal recessive'
http://purl.obolibrary.org/obo/MONDO_0012343
AAA2
http://purl.obolibrary.org/obo/MESH_C565229 EquivalentTo 'AAA2'
http://purl.obolibrary.org/obo/MONDO_0012342
7q11.23 microduplication syndrome
http://purl.obolibrary.org/obo/GARD_0012076 EquivalentTo '7q11.23 microduplication syndrome'
http://purl.obolibrary.org/obo/MONDO_0012346
GEFSP4
http://purl.obolibrary.org/obo/MESH_C565227 EquivalentTo 'GEFSP4'
http://purl.obolibrary.org/obo/MONDO_0012354
platelet-type bleeding disorder 8
http://purl.obolibrary.org/obo/GARD_0012478 EquivalentTo 'platelet-type bleeding disorder 8'
http://purl.obolibrary.org/obo/MONDO_0012365
GBD2
http://purl.obolibrary.org/obo/MESH_C563687 EquivalentTo 'GBD2'
http://purl.obolibrary.org/obo/MONDO_0012366
GBD3
http://purl.obolibrary.org/obo/MESH_C563686 EquivalentTo 'GBD3'
http://purl.obolibrary.org/obo/MESH_D000031
http://purl.obolibrary.org/obo/MESH_D000031 EquivalentTo 'septic abortion'
http://purl.obolibrary.org/obo/MONDO_0012368
neurological conditions associated with aminoacylase 1 deficiency
'neurological conditions associated with aminoacylase 1 deficiency' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001981
http://purl.obolibrary.org/obo/MONDO_0012360
congenital nongoitrous hypothryoidism 3
http://purl.obolibrary.org/obo/MESH_C567935 EquivalentTo 'congenital nongoitrous hypothryoidism 3'
http://purl.obolibrary.org/obo/MONDO_0012376
autosomal recessive nonsyndromic deafness 55
http://purl.obolibrary.org/obo/GARD_0009919 EquivalentTo 'autosomal recessive nonsyndromic deafness 55'
http://purl.obolibrary.org/obo/MONDO_0012375
autosomal recessive nonsyndromic deafness 47
http://purl.obolibrary.org/obo/GARD_0009935 EquivalentTo 'autosomal recessive nonsyndromic deafness 47'
http://purl.obolibrary.org/obo/MONDO_0012378
GINGF3
http://purl.obolibrary.org/obo/GARD_0009911 EquivalentTo 'GINGF3'
http://purl.obolibrary.org/obo/MONDO_0012370
autosomal recessive nonsyndromic deafness 51
http://purl.obolibrary.org/obo/GARD_0009918 EquivalentTo 'autosomal recessive nonsyndromic deafness 51'
http://purl.obolibrary.org/obo/MONDO_0012157
congenital myasthenic syndrome 4C
http://purl.obolibrary.org/obo/GARD_0010108 EquivalentTo 'congenital myasthenic syndrome 4C'
http://purl.obolibrary.org/obo/MONDO_0012158
KTCN2
http://purl.obolibrary.org/obo/MESH_C563827 EquivalentTo 'KTCN2'
http://purl.obolibrary.org/obo/MONDO_0012167
ATFB2
http://purl.obolibrary.org/obo/MESH_C563903 EquivalentTo 'ATFB2'
http://purl.obolibrary.org/obo/MONDO_0012165
BNAR syndrome
http://purl.obolibrary.org/obo/GARD_0010595 EquivalentTo 'BNAR syndrome'
'BNAR syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0012160
spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
http://purl.obolibrary.org/obo/GARD_0010647 EquivalentTo 'spondylometaphyseal dysplasia-cone-rod dystrophy syndrome'
http://purl.obolibrary.org/obo/MESH_C563825 EquivalentTo 'spondylometaphyseal dysplasia-cone-rod dystrophy syndrome'
http://purl.obolibrary.org/obo/MONDO_0012163
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
http://purl.obolibrary.org/obo/MESH_C563822 EquivalentTo 'severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive'
http://purl.obolibrary.org/obo/MONDO_0012164
Meacham syndrome
http://purl.obolibrary.org/obo/GARD_0003432 EquivalentTo 'Meacham syndrome'
http://purl.obolibrary.org/obo/MONDO_0012177
posterior column ataxia-retinitis pigmentosa syndrome
http://purl.obolibrary.org/obo/MESH_C536343 EquivalentTo 'posterior column ataxia-retinitis pigmentosa syndrome'
http://purl.obolibrary.org/obo/GARD_0009898 EquivalentTo 'posterior column ataxia-retinitis pigmentosa syndrome'
http://purl.obolibrary.org/obo/MONDO_0012173
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
http://purl.obolibrary.org/obo/GARD_0006867 EquivalentTo 'long chain 3-hydroxyacyl-CoA dehydrogenase deficiency'
http://purl.obolibrary.org/obo/MONDO_0012189
Amish infantile epilepsy syndrome
http://purl.obolibrary.org/obo/GARD_0012059 EquivalentTo 'Amish infantile epilepsy syndrome'
http://purl.obolibrary.org/obo/MONDO_0012198
PCWH syndrome
'PCWH syndrome' SubClassOf 'rare genetic skin disease'
http://purl.obolibrary.org/obo/MONDO_0012193
autosomal dominant limb-girdle muscular dystrophy type 1G
http://purl.obolibrary.org/obo/GARD_0012531 EquivalentTo 'autosomal dominant limb-girdle muscular dystrophy type 1G'
http://purl.obolibrary.org/obo/MONDO_0012191
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
'Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C125663
http://purl.obolibrary.org/obo/MONDO_0012197
idiopathic aplastic anemia
http://purl.obolibrary.org/obo/GARD_0005836 EquivalentTo 'idiopathic aplastic anemia'
http://purl.obolibrary.org/obo/MONDO_0012194
ANIB3
http://purl.obolibrary.org/obo/MESH_C563792 EquivalentTo 'ANIB3'
http://purl.obolibrary.org/obo/SCTID_27873005
'Machado-Joseph disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_27873005
http://purl.obolibrary.org/obo/MONDO_0002806
bronchogenic carcinoma
http://purl.obolibrary.org/obo/MESH_D002283 EquivalentTo 'bronchogenic carcinoma'
'bronchogenic carcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001942
http://purl.obolibrary.org/obo/MONDO_0002807
bronchial neoplasm (disease)
'bronchial neoplasm (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000849
http://purl.obolibrary.org/obo/MONDO_0002801
colonic pseudo-obstruction
'colonic pseudo-obstruction' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000871
http://purl.obolibrary.org/obo/MONDO_0002803
intestinal pseudo-obstruction
'intestinal pseudo-obstruction' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000988
http://purl.obolibrary.org/obo/MONDO_0002817
adrenal gland cancer
http://purl.obolibrary.org/obo/GARD_0005751 EquivalentTo 'adrenal gland cancer'
http://purl.obolibrary.org/obo/MONDO_0002824
extrinsic cardiomyopathy
'extrinsic cardiomyopathy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_195029002
http://purl.obolibrary.org/obo/MONDO_0002842
bacterial gastritis
'bacterial gastritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
http://purl.obolibrary.org/obo/MONDO_0002843
fungal gastritis
'fungal gastritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
http://purl.obolibrary.org/obo/MONDO_0002855
ectomesenchymoma
http://purl.obolibrary.org/obo/GARD_0012279 EquivalentTo 'ectomesenchymoma'
http://purl.obolibrary.org/obo/MONDO_0002885
erythrasma
'erythrasma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000696
http://purl.obolibrary.org/obo/MONDO_0012209
Branchiogenic deafness syndrome
'Branchiogenic deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0012206
Czech dysplasia, metatarsal type
'Czech dysplasia, metatarsal type' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0012202
malaria, mild, susceptibility to
'malaria, mild, susceptibility to' EquivalentTo http://www.orpha.net/ORDO/Orphanet_409876
http://purl.obolibrary.org/obo/MONDO_0012203
familial hyperthyroidism due to mutations in TSH receptor
http://purl.obolibrary.org/obo/MESH_C563786 EquivalentTo 'familial hyperthyroidism due to mutations in TSH receptor'
http://purl.obolibrary.org/obo/GARD_0002858 EquivalentTo 'familial hyperthyroidism due to mutations in TSH receptor'
http://purl.obolibrary.org/obo/MONDO_0002889
orbital cancer
'orbital cancer' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0007408
http://purl.obolibrary.org/obo/MONDO_0012217
Bruck syndrome 2
http://purl.obolibrary.org/obo/GARD_0010023 EquivalentTo 'Bruck syndrome 2'
http://purl.obolibrary.org/obo/MONDO_0012218
ADDWOC
http://purl.obolibrary.org/obo/MESH_C567185 EquivalentTo 'ADDWOC'
http://purl.obolibrary.org/obo/MONDO_0012211
MPDU1-CDG
http://purl.obolibrary.org/obo/GARD_0009832 EquivalentTo 'MPDU1-CDG'
http://purl.obolibrary.org/obo/MONDO_0012212
Loeys-Dietz syndrome 1
http://purl.obolibrary.org/obo/GARD_0009458 EquivalentTo 'Loeys-Dietz syndrome 1'
http://purl.obolibrary.org/obo/MONDO_0012210
migraine with aura, susceptibility to, 7
'migraine with aura, susceptibility to, 7' SubClassOf 'rare genetic vascular disease'
http://purl.obolibrary.org/obo/MONDO_0012216
foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
http://purl.obolibrary.org/obo/MESH_C563774 EquivalentTo 'foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome'
http://purl.obolibrary.org/obo/MONDO_0012213
hereditary spastic paraplegia 26
http://purl.obolibrary.org/obo/GARD_0009587 EquivalentTo 'hereditary spastic paraplegia 26'
http://purl.obolibrary.org/obo/MONDO_0012228
MYP8
http://purl.obolibrary.org/obo/MESH_C563760 EquivalentTo 'MYP8'
http://purl.obolibrary.org/obo/MONDO_0012229
MYP9
http://purl.obolibrary.org/obo/MESH_C563759 EquivalentTo 'MYP9'
http://purl.obolibrary.org/obo/MONDO_0012222
alpha-N-acetylgalactosaminidase deficiency type 2
http://purl.obolibrary.org/obo/GARD_0009161 EquivalentTo 'alpha-N-acetylgalactosaminidase deficiency type 2'
http://purl.obolibrary.org/obo/MONDO_0012221
alpha-N-acetylgalactosaminidase deficiency type 1
http://purl.obolibrary.org/obo/GARD_0003903 EquivalentTo 'alpha-N-acetylgalactosaminidase deficiency type 1'
http://purl.obolibrary.org/obo/GARD_0000116 EquivalentTo 'alpha-N-acetylgalactosaminidase deficiency type 1'
http://purl.obolibrary.org/obo/MONDO_0012227
MYP7
http://purl.obolibrary.org/obo/MESH_C563761 EquivalentTo 'MYP7'
http://purl.obolibrary.org/obo/MONDO_0012234
LFS3
http://purl.obolibrary.org/obo/MESH_C563754 EquivalentTo 'LFS3'
http://purl.obolibrary.org/obo/MONDO_0012232
STUT2
http://purl.obolibrary.org/obo/MESH_C563756 EquivalentTo 'STUT2'
http://purl.obolibrary.org/obo/MONDO_0012236
KTCN4
http://purl.obolibrary.org/obo/MESH_C563752 EquivalentTo 'KTCN4'
http://purl.obolibrary.org/obo/MONDO_0012230
MYP10
http://purl.obolibrary.org/obo/MESH_C563758 EquivalentTo 'MYP10'
http://purl.obolibrary.org/obo/MONDO_0012242
VVS
http://purl.obolibrary.org/obo/GARD_0009502 EquivalentTo 'VVS'
http://purl.obolibrary.org/obo/MONDO_0012248
autosomal recessive limb-girdle muscular dystrophy type 2K
http://purl.obolibrary.org/obo/GARD_0012535 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2K'
'autosomal recessive limb-girdle muscular dystrophy type 2K' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C133730
http://purl.obolibrary.org/obo/MONDO_0012249
colorectal cancer, hereditary nonpolyposis, type 2
http://purl.obolibrary.org/obo/MESH_D055847 EquivalentTo 'colorectal cancer, hereditary nonpolyposis, type 2'
http://purl.obolibrary.org/obo/MONDO_0012246
spinocerebellar ataxia type 26
http://purl.obolibrary.org/obo/GARD_0009995 EquivalentTo 'spinocerebellar ataxia type 26'
http://purl.obolibrary.org/obo/MONDO_0012247
spinocerebellar ataxia type 27
http://purl.obolibrary.org/obo/GARD_0009963 EquivalentTo 'spinocerebellar ataxia type 27'
http://purl.obolibrary.org/obo/MONDO_0012022
OFC4
http://purl.obolibrary.org/obo/MESH_C564251 EquivalentTo 'OFC4'
http://purl.obolibrary.org/obo/MONDO_0012034
autosomal dominant limb-girdle muscular dystrophy type 1F
http://purl.obolibrary.org/obo/GARD_0012530 EquivalentTo 'autosomal dominant limb-girdle muscular dystrophy type 1F'
http://purl.obolibrary.org/obo/DC_0000703
http://purl.obolibrary.org/obo/DC_0000703 EquivalentTo 'obsolete Singleton-Merten syndrome'
http://purl.obolibrary.org/obo/DC_0000703 EquivalentTo 'Singleton-Merten dysplasia'
http://purl.obolibrary.org/obo/MONDO_0012038
speech-Sound disorder
http://purl.obolibrary.org/obo/MESH_C563928 EquivalentTo 'speech-Sound disorder'
http://purl.obolibrary.org/obo/MONDO_0012032
Braddock syndrome
'Braddock syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'Braddock syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0012044
corneal dystrophy, lattice type 3A
http://purl.obolibrary.org/obo/MESH_C563923 EquivalentTo 'corneal dystrophy, lattice type 3A'
http://purl.obolibrary.org/obo/MONDO_0012045
MYP5
http://purl.obolibrary.org/obo/MESH_C563922 EquivalentTo 'MYP5'
http://purl.obolibrary.org/obo/MONDO_0012049
orofaciodigital syndrome VII
'orofaciodigital syndrome VII' EquivalentTo http://www.orpha.net/ORDO/Orphanet_90649
http://purl.obolibrary.org/obo/MONDO_0012043
Reis-Bucklers corneal dystrophy
http://purl.obolibrary.org/obo/GARD_0009276 EquivalentTo 'Reis-Bucklers corneal dystrophy'
http://purl.obolibrary.org/obo/MONDO_0012041
MUTYH-related attenuated familial adenomatous polyposis
'MUTYH-related attenuated familial adenomatous polyposis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C96520
http://purl.obolibrary.org/obo/MONDO_0012057
Legionnaire disease, susceptibility to
http://purl.obolibrary.org/obo/GARD_0006876 EquivalentTo 'Legionnaire disease, susceptibility to'
http://purl.obolibrary.org/obo/MONDO_0012053
ANIB2
http://purl.obolibrary.org/obo/MESH_C536360 EquivalentTo 'ANIB2'
http://purl.obolibrary.org/obo/GARD_0010033 EquivalentTo 'ANIB2'
http://purl.obolibrary.org/obo/MONDO_0012052
ALG1-CDG
http://purl.obolibrary.org/obo/GARD_0009838 EquivalentTo 'ALG1-CDG'
http://purl.obolibrary.org/obo/MONDO_0012069
KTCN3
http://purl.obolibrary.org/obo/MESH_C563900 EquivalentTo 'KTCN3'
http://purl.obolibrary.org/obo/MONDO_0012064
choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
'choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0012071
congenital generalized lipodystrophy type 1
http://purl.obolibrary.org/obo/GARD_0000084 EquivalentTo 'congenital generalized lipodystrophy type 1'
http://purl.obolibrary.org/obo/MONDO_0012072
familial partial lipodystrophy, KC6bberling type
http://purl.obolibrary.org/obo/GARD_0012598 EquivalentTo 'familial partial lipodystrophy, KC6bberling type'
http://purl.obolibrary.org/obo/MONDO_0012089
ichthyosis prematurity syndrome
'ichthyosis prematurity syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_12381000132107
http://purl.obolibrary.org/obo/MONDO_0012080
neuronopathy, distal hereditary motor, type 2B
http://purl.obolibrary.org/obo/MESH_C567084 EquivalentTo 'neuronopathy, distal hereditary motor, type 2B'
http://purl.obolibrary.org/obo/MONDO_0012092
hereditary sensory and autonomic neuropathy type 5
http://purl.obolibrary.org/obo/GARD_0012328 EquivalentTo 'hereditary sensory and autonomic neuropathy type 5'
http://purl.obolibrary.org/obo/MONDO_0012097
spondylocostal dysostosis 2, autosomal recessive
http://purl.obolibrary.org/obo/GARD_0009703 EquivalentTo 'spondylocostal dysostosis 2, autosomal recessive'
http://purl.obolibrary.org/obo/MONDO_0012098
spinocerebellar ataxia type 20
http://purl.obolibrary.org/obo/GARD_0009997 EquivalentTo 'spinocerebellar ataxia type 20'
http://purl.obolibrary.org/obo/MONDO_0012096
Charcot-Marie-tooth disease axonal type 2L
http://purl.obolibrary.org/obo/GARD_0012432 EquivalentTo 'Charcot-Marie-tooth disease axonal type 2L'
http://purl.obolibrary.org/obo/MONDO_0002701
ovarian mucinous cystadenocarcinoma
'ovarian mucinous cystadenocarcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001963
http://purl.obolibrary.org/obo/MONDO_0002702
ovarian cystadenocarcinoma
'ovarian cystadenocarcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001962
http://purl.obolibrary.org/obo/MONDO_0002713
epidural spinal canal neoplasm
'epidural spinal canal neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000923
http://purl.obolibrary.org/obo/MONDO_0002714
central nervous system cancer
'central nervous system cancer' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0000326
http://purl.obolibrary.org/obo/MONDO_0002728
rhabdoid tumor
http://purl.obolibrary.org/obo/GARD_0007572 EquivalentTo 'rhabdoid tumor'
http://purl.obolibrary.org/obo/MONDO_0002776
external ear disease
'external ear disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C26972
http://purl.obolibrary.org/obo/MONDO_0002770
vaginal discharge
'vaginal discharge' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C50795
http://purl.obolibrary.org/obo/MONDO_0002787
adamantinous craniopharyngioma
'adamantinous craniopharyngioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000069
http://purl.obolibrary.org/obo/MONDO_0002788
papillary craniopharyngioma
'papillary craniopharyngioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000447
http://purl.obolibrary.org/obo/MONDO_0012108
spondyloepimetaphyseal dysplasia, matrilin-3 type
http://purl.obolibrary.org/obo/GARD_0010611 EquivalentTo 'spondyloepimetaphyseal dysplasia, matrilin-3 type'
http://purl.obolibrary.org/obo/MONDO_0012105
granulomatosis with polyangiitis
http://purl.obolibrary.org/obo/GARD_0007880 EquivalentTo 'granulomatosis with polyangiitis'
http://purl.obolibrary.org/obo/MONDO_0012103
spinocerebellar ataxia type 25
http://purl.obolibrary.org/obo/GARD_0009996 EquivalentTo 'spinocerebellar ataxia type 25'
http://purl.obolibrary.org/obo/MONDO_0012104
acquired partial lipodystrophy
http://purl.obolibrary.org/obo/GARD_0010509 EquivalentTo 'acquired partial lipodystrophy'
http://purl.obolibrary.org/obo/MONDO_0002791
large cell medulloblastoma
'large cell medulloblastoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008508
http://purl.obolibrary.org/obo/MONDO_0012118
COG7-CDG
http://purl.obolibrary.org/obo/GARD_0009842 EquivalentTo 'COG7-CDG'
http://purl.obolibrary.org/obo/MONDO_0012112
hypertrophic cardiomyopathy 10
'hypertrophic cardiomyopathy 10' EquivalentTo http://www.orpha.net/ORDO/Orphanet_123631
http://purl.obolibrary.org/obo/MONDO_0012110
growth delay due to insulin-like growth factor type 1 deficiency
http://purl.obolibrary.org/obo/GARD_0010627 EquivalentTo 'growth delay due to insulin-like growth factor type 1 deficiency'
http://purl.obolibrary.org/obo/MONDO_0012116
spinocerebellar ataxia type 8
http://purl.obolibrary.org/obo/GARD_0004956 EquivalentTo 'spinocerebellar ataxia type 8'
http://purl.obolibrary.org/obo/MONDO_0012117
ALG9-CDG
http://purl.obolibrary.org/obo/GARD_0009839 EquivalentTo 'ALG9-CDG'
http://purl.obolibrary.org/obo/MONDO_0012123
congenital disorder of glycosylation type 1E
http://purl.obolibrary.org/obo/GARD_0009831 EquivalentTo 'congenital disorder of glycosylation type 1E'
http://purl.obolibrary.org/obo/MONDO_0012124
sudden infant death-dysgenesis of the testes syndrome
http://purl.obolibrary.org/obo/MESH_C563856 EquivalentTo 'sudden infant death-dysgenesis of the testes syndrome'
http://purl.obolibrary.org/obo/GARD_0012382 EquivalentTo 'sudden infant death-dysgenesis of the testes syndrome'
http://purl.obolibrary.org/obo/MONDO_0012121
OTSC5
http://purl.obolibrary.org/obo/MESH_C563858 EquivalentTo 'OTSC5'
http://purl.obolibrary.org/obo/MONDO_0012122
MYMY3
http://purl.obolibrary.org/obo/MESH_C536993 EquivalentTo 'MYMY3'
http://purl.obolibrary.org/obo/MONDO_0012127
autosomal recessive limb-girdle muscular dystrophy type 2J
http://purl.obolibrary.org/obo/GARD_0012534 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2J'
http://purl.obolibrary.org/obo/MONDO_0012128
dextro-looped transposition of the great arteries 1
http://purl.obolibrary.org/obo/GARD_0007795 EquivalentTo 'dextro-looped transposition of the great arteries 1'
http://purl.obolibrary.org/obo/MONDO_0012135
RLS2
http://purl.obolibrary.org/obo/GARD_0009710 EquivalentTo 'RLS2'
http://purl.obolibrary.org/obo/MONDO_0012136
carnitine palmitoyl transferase II deficiency, neonatal form
http://purl.obolibrary.org/obo/MESH_C563463 EquivalentTo 'carnitine palmitoyl transferase II deficiency, neonatal form'
http://purl.obolibrary.org/obo/MONDO_0002629
bone osteosarcoma
http://purl.obolibrary.org/obo/GARD_0007284 EquivalentTo 'bone osteosarcoma'
http://purl.obolibrary.org/obo/MONDO_0002637
histiocytosis
'histiocytosis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3106
http://purl.obolibrary.org/obo/MONDO_0002644
idiopathic granulomatous myositis
'idiopathic granulomatous myositis' EquivalentTo http://www.orpha.net/ORDO/Orphanet_206979
http://purl.obolibrary.org/obo/MONDO_0002640
optic nerve neoplasm
'optic nerve neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001073
http://purl.obolibrary.org/obo/MONDO_0002658
iris cancer
'iris cancer' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000996
http://purl.obolibrary.org/obo/MONDO_0002659
uveal cancer
'uveal cancer' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001230
http://purl.obolibrary.org/obo/MONDO_0002661
uveal disease
http://purl.obolibrary.org/obo/GARD_0008192 EquivalentTo 'uveal disease'
http://purl.obolibrary.org/obo/MONDO_0002670
ampulla of vater adenocarcinoma
'ampulla of vater adenocarcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008490
http://purl.obolibrary.org/obo/MONDO_0002687
superior mesenteric artery syndrome
'superior mesenteric artery syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001201
http://purl.obolibrary.org/obo/MONDO_0002688
duodenal obstruction
'duodenal obstruction' EquivalentTo http://purl.obolibrary.org/obo/SCTID_95532008
'duodenal obstruction' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000908
http://purl.obolibrary.org/obo/MONDO_0002681
choroid plexus cancer
'choroid plexus cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0002682
cerebral ventricle cancer
'cerebral ventricle cancer' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0007201
http://purl.obolibrary.org/obo/MONDO_0012000
specific phobia
'specific phobia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001918
http://purl.obolibrary.org/obo/MONDO_0012004
parathyroid gland carcinoma
http://purl.obolibrary.org/obo/GARD_0007329 EquivalentTo 'parathyroid gland carcinoma'
http://purl.obolibrary.org/obo/MONDO_0002697
ovarian gonadoblastoma (disease)
'ovarian gonadoblastoma (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000420
http://purl.obolibrary.org/obo/MONDO_0002691
liver cancer
http://purl.obolibrary.org/obo/GARD_0006608 EquivalentTo 'liver cancer'
http://purl.obolibrary.org/obo/MONDO_0012013
glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome
http://purl.obolibrary.org/obo/GARD_0002452 EquivalentTo 'glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome'
http://purl.obolibrary.org/obo/MONDO_0012014
Charcot-Marie-tooth disease recessive intermediate a
http://purl.obolibrary.org/obo/GARD_0012453 EquivalentTo 'Charcot-Marie-tooth disease recessive intermediate a'
http://purl.obolibrary.org/obo/MESH_C564256 EquivalentTo 'Charcot-Marie-tooth disease recessive intermediate a'
http://purl.obolibrary.org/obo/MONDO_0012012
Charcot-Marie-tooth disease dominant intermediate c
http://purl.obolibrary.org/obo/GARD_0012439 EquivalentTo 'Charcot-Marie-tooth disease dominant intermediate c'
http://purl.obolibrary.org/obo/MONDO_0012015
NYS3
http://purl.obolibrary.org/obo/GARD_0009600 EquivalentTo 'NYS3'
http://purl.obolibrary.org/obo/MESH_C537855 EquivalentTo 'NYS3'
http://purl.obolibrary.org/obo/MONDO_0002462
glomerulonephritis (disease)
http://purl.obolibrary.org/obo/GARD_0006516 EquivalentTo 'glomerulonephritis (disease)'
http://purl.obolibrary.org/obo/MONDO_0002470
photosensitive trichothiodystrophy
http://purl.obolibrary.org/obo/GARD_0002944 EquivalentTo 'photosensitive trichothiodystrophy'
http://purl.obolibrary.org/obo/MONDO_0002473
cystic kidney disease
'cystic kidney disease' EquivalentTo 'kidney disease' and ('disease has feature' some http://purl.obolibrary.org/obo/HP_0000107)
'cystic kidney disease' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/HP_0000107
http://purl.obolibrary.org/obo/MONDO_0002489
malignant breast phyllodes tumor
'malignant breast phyllodes tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008545
http://purl.obolibrary.org/obo/MONDO_0002497
food allergy
'food allergy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001890
http://purl.obolibrary.org/obo/MONDO_0002501
brain glioblastoma
'brain glioblastoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0006545
http://purl.obolibrary.org/obo/MONDO_0002513
kidney benign neoplasm
'kidney benign neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000111
http://purl.obolibrary.org/obo/MONDO_0002514
hepatobiliary neoplasm
'hepatobiliary neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008550
http://purl.obolibrary.org/obo/MONDO_0002515
hepatobiliary disease
'hepatobiliary disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3959
http://purl.obolibrary.org/obo/MONDO_0002529
skin squamous cell carcinoma
'skin squamous cell carcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001927
http://purl.obolibrary.org/obo/MONDO_0002531
skin neoplasm
'skin neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0004198
http://purl.obolibrary.org/obo/MONDO_0002544
brain oligodendroglioma
'brain oligodendroglioma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254940005
http://purl.obolibrary.org/obo/MONDO_0002545
spinal cord disease
'spinal cord disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C97110
http://purl.obolibrary.org/obo/MONDO_0002546
schwannoma
'schwannoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0000693
http://purl.obolibrary.org/obo/MONDO_0002565
myelitis
'myelitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001472
http://purl.obolibrary.org/obo/MONDO_0002578
botryoid rhabdomyosarcoma
http://purl.obolibrary.org/obo/GARD_0009398 EquivalentTo 'botryoid rhabdomyosarcoma'
http://purl.obolibrary.org/obo/MONDO_0002572
aspiration pneumonitis
'aspiration pneumonitis' SubClassOf 'pneumonia'
'aspiration pneumonitis' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/HP_0002789
'aspiration pneumonitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043905
http://linkedlifedata.com/resource/umls/id/C0851140
http://linkedlifedata.com/resource/umls/id/C0851140 EquivalentTo 'cervix uteri carcinoma in situ'
http://linkedlifedata.com/resource/umls/id/C0851140 EquivalentTo http://purl.obolibrary.org/obo/MONDO_0042487
http://purl.obolibrary.org/obo/MONDO_0022800
collagenopathy type 2 alpha 1
http://purl.obolibrary.org/obo/MESH_C535964 EquivalentTo 'collagenopathy type 2 alpha 1'
http://purl.obolibrary.org/obo/MONDO_0007208
Boomerang dysplasia
'Boomerang dysplasia' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0007209
Weismann-Netter syndrome
http://purl.obolibrary.org/obo/GARD_0005232 EquivalentTo 'Weismann-Netter syndrome'
http://purl.obolibrary.org/obo/MONDO_0007207
BC6C6k syndrome
http://purl.obolibrary.org/obo/GARD_0000932 EquivalentTo 'BC6C6k syndrome'
http://purl.obolibrary.org/obo/MONDO_0007205
diaphyseal medullary stenosis-bone malignancy syndrome
http://purl.obolibrary.org/obo/GARD_0010072 EquivalentTo 'diaphyseal medullary stenosis-bone malignancy syndrome'
'diaphyseal medullary stenosis-bone malignancy syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'diaphyseal medullary stenosis-bone malignancy syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C122660
http://purl.obolibrary.org/obo/MONDO_0007202
blepharoptosis-myopia-ectopia lentis syndrome
http://purl.obolibrary.org/obo/GARD_0000912 EquivalentTo 'blepharoptosis-myopia-ectopia lentis syndrome'
http://purl.obolibrary.org/obo/MONDO_0007203
blue rubber bleb nevus
http://purl.obolibrary.org/obo/GARD_0005940 EquivalentTo 'blue rubber bleb nevus'
http://purl.obolibrary.org/obo/MONDO_0007201
blepharophimosis, ptosis, and epicanthus inversus syndrome
http://purl.obolibrary.org/obo/GARD_0000023 EquivalentTo 'blepharophimosis, ptosis, and epicanthus inversus syndrome'
http://purl.obolibrary.org/obo/MONDO_0007213
Ballard syndrome
http://purl.obolibrary.org/obo/GARD_0000959 EquivalentTo 'Ballard syndrome'
http://purl.obolibrary.org/obo/MONDO_0007214
brachydactyly-preaxial hallux varus syndrome
http://purl.obolibrary.org/obo/GARD_0000972 EquivalentTo 'brachydactyly-preaxial hallux varus syndrome'
http://purl.obolibrary.org/obo/MONDO_0007211
brachydactyly-arterial hypertension syndrome
http://purl.obolibrary.org/obo/GARD_0000967 EquivalentTo 'brachydactyly-arterial hypertension syndrome'
http://purl.obolibrary.org/obo/MONDO_0007228
brachymesomelia-renal syndrome
http://purl.obolibrary.org/obo/GARD_0000988 EquivalentTo 'brachymesomelia-renal syndrome'
http://purl.obolibrary.org/obo/MONDO_0007226
brachydactyly-nystagmus-cerebellar ataxia syndrome
http://purl.obolibrary.org/obo/GARD_0000971 EquivalentTo 'brachydactyly-nystagmus-cerebellar ataxia syndrome'
http://purl.obolibrary.org/obo/MONDO_0007227
Sillence syndrome
http://purl.obolibrary.org/obo/GARD_0004869 EquivalentTo 'Sillence syndrome'
http://purl.obolibrary.org/obo/MONDO_0007225
fibular aplasia-ectrodactyly syndrome
http://purl.obolibrary.org/obo/GARD_0002331 EquivalentTo 'fibular aplasia-ectrodactyly syndrome'
http://purl.obolibrary.org/obo/MONDO_0007223
brachydactyly type E1
http://purl.obolibrary.org/obo/MESH_C566194 EquivalentTo 'brachydactyly type E1'
http://purl.obolibrary.org/obo/MONDO_0007220
brachydactyly type B1
http://purl.obolibrary.org/obo/MESH_C566196 EquivalentTo 'brachydactyly type B1'
http://purl.obolibrary.org/obo/MONDO_0007221
brachydactyly type C
http://purl.obolibrary.org/obo/GARD_0000986 EquivalentTo 'brachydactyly type C'
http://purl.obolibrary.org/obo/MONDO_0007239
epidermolytic hyperkeratosis
http://purl.obolibrary.org/obo/GARD_0001039 EquivalentTo 'epidermolytic hyperkeratosis'
'epidermolytic hyperkeratosis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C62569
http://purl.obolibrary.org/obo/MONDO_0007235
branchiooculofacial syndrome
'branchiooculofacial syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0007233
second branchial cleft anomaly
'second branchial cleft anomaly' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C104813
http://purl.obolibrary.org/obo/MONDO_0007231
brachytelephalangy-dysmorphism-Kallmann syndrome
'brachytelephalangy-dysmorphism-Kallmann syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0007232
autosomal dominant brachyolmia
http://purl.obolibrary.org/obo/GARD_0010429 EquivalentTo 'autosomal dominant brachyolmia'
'autosomal dominant brachyolmia' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0007230
Brachymorphism-onychodysplasia-dysphalangism syndrome
http://purl.obolibrary.org/obo/GARD_0000918 EquivalentTo 'Brachymorphism-onychodysplasia-dysphalangism syndrome'
'Brachymorphism-onychodysplasia-dysphalangism syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0007244
Caffey disease
http://purl.obolibrary.org/obo/GARD_0001051 EquivalentTo 'Caffey disease'
http://purl.obolibrary.org/obo/MONDO_0007245
neurofibromatosis type 6
http://purl.obolibrary.org/obo/GARD_0001050 EquivalentTo 'neurofibromatosis type 6'
http://purl.obolibrary.org/obo/MONDO_0007243
Burkitts lymphoma
http://purl.obolibrary.org/obo/GARD_0005973 EquivalentTo 'Burkitts lymphoma'
http://purl.obolibrary.org/obo/MONDO_0007240
progressive familial heart block, type IA
http://purl.obolibrary.org/obo/GARD_0001093 EquivalentTo 'progressive familial heart block, type IA'
http://purl.obolibrary.org/obo/MONDO_0007251
campomelic dysplasia
http://purl.obolibrary.org/obo/GARD_0010027 EquivalentTo 'campomelic dysplasia'
'campomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0007252
Gordon syndrome
'Gordon syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0007264
sudden cardiac arrest
'sudden cardiac arrest' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C78245
http://purl.obolibrary.org/obo/MONDO_0007277
cataract-aberrant oral frenula-growth delay syndrome
http://purl.obolibrary.org/obo/GARD_0005554 EquivalentTo 'cataract-aberrant oral frenula-growth delay syndrome'
'cataract-aberrant oral frenula-growth delay syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0007273
paragangliomas 4
'paragangliomas 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0007280
cataract 8 multiple types
http://purl.obolibrary.org/obo/GARD_0001146 EquivalentTo 'cataract 8 multiple types'
http://purl.obolibrary.org/obo/MONDO_0007288
cataract 6 multiple types
http://purl.obolibrary.org/obo/GARD_0010234 EquivalentTo 'cataract 6 multiple types'
http://purl.obolibrary.org/obo/MONDO_0007286
cataract 30
http://purl.obolibrary.org/obo/MESH_C566157 EquivalentTo 'cataract 30'
http://purl.obolibrary.org/obo/MONDO_0007293
leukocyte adhesion deficiency 1
http://purl.obolibrary.org/obo/GARD_0006893 EquivalentTo 'leukocyte adhesion deficiency 1'
http://purl.obolibrary.org/obo/MONDO_0007294
central core myopathy
http://purl.obolibrary.org/obo/GARD_0006014 EquivalentTo 'central core myopathy'
http://purl.obolibrary.org/obo/MONDO_0007291
familial cerebral cavernous malformation
'familial cerebral cavernous malformation' SubClassOf 'rare genetic epilepsy'
'familial cerebral cavernous malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0007297
ADan amyloidosis
http://purl.obolibrary.org/obo/GARD_0009169 EquivalentTo 'ADan amyloidosis'
http://purl.obolibrary.org/obo/MONDO_0007298
spinocerebellar ataxia type 29
http://purl.obolibrary.org/obo/GARD_0010480 EquivalentTo 'spinocerebellar ataxia type 29'
http://purl.obolibrary.org/obo/MONDO_0007296
spinocerebellar ataxia type 31
http://purl.obolibrary.org/obo/GARD_0009975 EquivalentTo 'spinocerebellar ataxia type 31'
http://purl.obolibrary.org/obo/MONDO_0022714
chester porphyria
'chester porphyria' EquivalentTo http://www.orpha.net/ORDO/Orphanet_159255
http://purl.obolibrary.org/obo/MONDO_0022715
Chiari malformation type 3
'Chiari malformation type 3' EquivalentTo http://purl.obolibrary.org/obo/SCTID_253186001
http://purl.obolibrary.org/obo/MONDO_0022716
Chiari malformation type 4
'Chiari malformation type 4' EquivalentTo http://purl.obolibrary.org/obo/SCTID_253187005
http://purl.obolibrary.org/obo/MONDO_0007109
congenital dyserythropoietic anemia type III
http://purl.obolibrary.org/obo/GARD_0002002 EquivalentTo 'congenital dyserythropoietic anemia type III'
http://purl.obolibrary.org/obo/MONDO_0007108
anal canal carcinoma
'anal canal carcinoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_285310000
http://purl.obolibrary.org/obo/MONDO_0007103
amyotrophic lateral sclerosis type 1
http://purl.obolibrary.org/obo/MESH_C531617 EquivalentTo 'amyotrophic lateral sclerosis type 1'
http://purl.obolibrary.org/obo/MONDO_0007104
amyotrophic lateral sclerosis-parkinsonism-dementia complex
http://purl.obolibrary.org/obo/GARD_0009239 EquivalentTo 'amyotrophic lateral sclerosis-parkinsonism-dementia complex'
http://purl.obolibrary.org/obo/MONDO_0007100
familial amyloid neuropathy
http://purl.obolibrary.org/obo/GARD_0000656 EquivalentTo 'familial amyloid neuropathy'
http://purl.obolibrary.org/obo/MONDO_0007116
hereditary neurocutaneous malformation
'hereditary neurocutaneous malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/GARD_0000676 EquivalentTo 'hereditary neurocutaneous malformation'
http://purl.obolibrary.org/obo/MONDO_0022754
chromosome 17 deletion
http://purl.obolibrary.org/obo/GARD_0006075 EquivalentTo 'chromosome 17 deletion'
http://purl.obolibrary.org/obo/MONDO_0007114
Angel-shaped phalango-epiphyseal dysplasia
http://purl.obolibrary.org/obo/GARD_0000671 EquivalentTo 'Angel-shaped phalango-epiphyseal dysplasia'
http://purl.obolibrary.org/obo/MONDO_0007113
Angelman syndrome
http://purl.obolibrary.org/obo/GARD_0005810 EquivalentTo 'Angelman syndrome'
http://purl.obolibrary.org/obo/MESH_C531619 EquivalentTo 'Angelman syndrome'
http://purl.obolibrary.org/obo/MONDO_0007111
ANIB1
http://purl.obolibrary.org/obo/MESH_C566284 EquivalentTo 'ANIB1'
http://purl.obolibrary.org/obo/MONDO_0022755
chromosome 18 mosaic monosomy
http://purl.obolibrary.org/obo/GARD_0003726 EquivalentTo 'chromosome 18 mosaic monosomy'
http://purl.obolibrary.org/obo/MONDO_0022757
chromosome 20 trisomy
'chromosome 20 trisomy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C36397
http://purl.obolibrary.org/obo/MESH_C535372 EquivalentTo 'chromosome 20 trisomy'
http://purl.obolibrary.org/obo/MONDO_0022759
trisomy 22
http://purl.obolibrary.org/obo/MESH_C536799 EquivalentTo 'trisomy 22'
'trisomy 22' EquivalentTo http://purl.obolibrary.org/obo/SCTID_205655003
http://purl.obolibrary.org/obo/MONDO_0007127
diffuse idiopathic skeletal hyperostosis
http://purl.obolibrary.org/obo/GARD_0000842 EquivalentTo 'diffuse idiopathic skeletal hyperostosis'
http://purl.obolibrary.org/obo/MONDO_0007123
ankyloblepharon filiforme adnatum-cleft palate syndrome
http://purl.obolibrary.org/obo/GARD_0000696 EquivalentTo 'ankyloblepharon filiforme adnatum-cleft palate syndrome'
http://purl.obolibrary.org/obo/MONDO_0007124
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
http://purl.obolibrary.org/obo/GARD_0004805 EquivalentTo 'ankyloblepharon-ectodermal defects-cleft lip/palate syndrome'
http://purl.obolibrary.org/obo/GARD_0006571 EquivalentTo 'ankyloblepharon-ectodermal defects-cleft lip/palate syndrome'
http://purl.obolibrary.org/obo/MONDO_0007137
isolated congenital anosmia
http://purl.obolibrary.org/obo/GARD_0009486 EquivalentTo 'isolated congenital anosmia'
http://purl.obolibrary.org/obo/MONDO_0007134
Cooks syndrome
http://purl.obolibrary.org/obo/GARD_0004083 EquivalentTo 'Cooks syndrome'
http://purl.obolibrary.org/obo/MONDO_0007135
nonsyndromic congenital nail disorder 6
http://purl.obolibrary.org/obo/GARD_0000710 EquivalentTo 'nonsyndromic congenital nail disorder 6'
http://purl.obolibrary.org/obo/MONDO_0007140
antiphospholipid syndrome
http://purl.obolibrary.org/obo/GARD_0005824 EquivalentTo 'antiphospholipid syndrome'
http://purl.obolibrary.org/obo/MONDO_0022762
chromosome 4 short arm deletion
http://purl.obolibrary.org/obo/GARD_0006090 EquivalentTo 'chromosome 4 short arm deletion'
http://purl.obolibrary.org/obo/MONDO_0007145
aplasia cutis congenita (disease)
http://purl.obolibrary.org/obo/GARD_0005835 EquivalentTo 'aplasia cutis congenita (disease)'
http://purl.obolibrary.org/obo/MONDO_0007143
aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
http://purl.obolibrary.org/obo/GARD_0000739 EquivalentTo 'aortic arch anomaly-facial dysmorphism-intellectual disability syndrome'
http://purl.obolibrary.org/obo/MONDO_0007142
Townes-Brocks syndrome
'Townes-Brocks syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0007158
arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
'arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_715217004
http://purl.obolibrary.org/obo/MONDO_0007159
arthrogryposis-like hand anomaly-sensorineural deafness syndrome
http://purl.obolibrary.org/obo/GARD_0000784 EquivalentTo 'arthrogryposis-like hand anomaly-sensorineural deafness syndrome'
http://purl.obolibrary.org/obo/MONDO_0007154
arteriovenous malformations of the brain
'arteriovenous malformations of the brain' SubClassOf 'rare genetic epilepsy'
'arteriovenous malformations of the brain' SubClassOf 'intracranial hemangioma'
'arteriovenous malformations of the brain' SubClassOf 'nervous system benign neoplasm'
'arteriovenous malformations of the brain' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/GARD_0003020 EquivalentTo 'arteriovenous malformations of the brain'
http://purl.obolibrary.org/obo/MONDO_0007160
Stickler syndrome type 1
http://purl.obolibrary.org/obo/GARD_0005018 EquivalentTo 'Stickler syndrome type 1'
http://purl.obolibrary.org/obo/MONDO_0022799
cold urticaria
'cold urticaria' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001881
'cold urticaria' EquivalentTo http://purl.obolibrary.org/obo/SCTID_74774004
http://purl.obolibrary.org/obo/MONDO_0007167
atelosteogenesis type i
http://purl.obolibrary.org/obo/GARD_0009287 EquivalentTo 'atelosteogenesis type i'
http://purl.obolibrary.org/obo/MONDO_0007168
atelosteogenesis type III
http://purl.obolibrary.org/obo/GARD_0010608 EquivalentTo 'atelosteogenesis type III'
http://purl.obolibrary.org/obo/MONDO_0007163
episodic ataxia type 2
http://purl.obolibrary.org/obo/GARD_0009602 EquivalentTo 'episodic ataxia type 2'
http://purl.obolibrary.org/obo/MONDO_0007164
spastic ataxia 1
http://purl.obolibrary.org/obo/MESH_C566993 EquivalentTo 'spastic ataxia 1'
http://purl.obolibrary.org/obo/MONDO_0007178
aurocephalosyndactyly
http://purl.obolibrary.org/obo/GARD_0009218 EquivalentTo 'aurocephalosyndactyly'
'aurocephalosyndactyly' EquivalentTo http://www.orpha.net/ORDO/Orphanet_1219
http://purl.obolibrary.org/obo/MONDO_0007181
axial osteomalacia
'axial osteomalacia' SubClassOf 'osteosclerosis'
'axial osteomalacia' SubClassOf 'inherited genetic disease'
'axial osteomalacia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042973
http://purl.obolibrary.org/obo/MONDO_0007182
Machado-Joseph disease
'Machado-Joseph disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_27873005
'Machado-Joseph disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_91952008
http://purl.obolibrary.org/obo/GARD_0006801 EquivalentTo 'Machado-Joseph disease'
http://purl.obolibrary.org/obo/MONDO_0007180
Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
'Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities' EquivalentTo http://www.orpha.net/ORDO/Orphanet_1831
http://purl.obolibrary.org/obo/MONDO_0007187
nevoid basal cell carcinoma syndrome
http://purl.obolibrary.org/obo/GARD_0007166 EquivalentTo 'nevoid basal cell carcinoma syndrome'
'nevoid basal cell carcinoma syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042983
http://purl.obolibrary.org/obo/MONDO_0007188
primary basilar invagination
http://purl.obolibrary.org/obo/GARD_0001037 EquivalentTo 'primary basilar invagination'
http://purl.obolibrary.org/obo/MONDO_0007191
Behcet disease
http://purl.obolibrary.org/obo/GARD_0000848 EquivalentTo 'Behcet disease'
http://purl.obolibrary.org/obo/MONDO_0007198
Ascher syndrome
'Ascher syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/COHD_194611
http://purl.obolibrary.org/obo/COHD_194611 EquivalentTo 'cervix uteri carcinoma in situ'
http://purl.obolibrary.org/obo/COHD_194611 EquivalentTo http://purl.obolibrary.org/obo/MONDO_0042487
http://purl.obolibrary.org/obo/MONDO_0022618
burning mouth syndrome type 3
http://purl.obolibrary.org/obo/MESH_C537413 EquivalentTo 'burning mouth syndrome type 3'
http://purl.obolibrary.org/obo/MONDO_0007007
Ureaplasma urethritis
'Ureaplasma urethritis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_51105006
http://purl.obolibrary.org/obo/MONDO_0007000
Treponema infectious disease
'Treponema infectious disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C85197
http://purl.obolibrary.org/obo/MONDO_0007014
vibrio infectious disease
http://purl.obolibrary.org/obo/MESH_D014735 EquivalentTo 'vibrio infectious disease'
http://purl.obolibrary.org/obo/MONDO_0007029
branchio-oto-renal syndrome
http://purl.obolibrary.org/obo/GARD_0010147 EquivalentTo 'branchio-oto-renal syndrome'
http://purl.obolibrary.org/obo/MONDO_0007027
non-alcoholic steatohepatitis
'non-alcoholic steatohepatitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84445
http://purl.obolibrary.org/obo/MONDO_0007024
yersinia pseudotuberculosis infectious disease
'yersinia pseudotuberculosis infectious disease' EquivalentTo 'infectious disease' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_632)
'yersinia pseudotuberculosis infectious disease' SubClassOf 'realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_632
'yersinia pseudotuberculosis infectious disease' SubClassOf 'yersinia infectious disease'
'yersinia pseudotuberculosis infectious disease' SubClassOf 'realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_633
http://purl.obolibrary.org/obo/MESH_D015012 EquivalentTo 'yersinia pseudotuberculosis infectious disease'
'yersinia pseudotuberculosis infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_36753006
'yersinia pseudotuberculosis infectious disease' EquivalentTo 'infectious disease' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_633)
'yersinia pseudotuberculosis infectious disease' SubClassOf 'yersinia infectious disease'
http://purl.obolibrary.org/obo/MONDO_0007023
yersinia infectious disease
http://purl.obolibrary.org/obo/MESH_D015009 EquivalentTo 'yersinia infectious disease'
'yersinia infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_83436008
http://purl.obolibrary.org/obo/MONDO_0007021
wheat allergic disease
http://purl.obolibrary.org/obo/MESH_D021182 EquivalentTo 'wheat allergic disease'
http://purl.obolibrary.org/obo/MONDO_0007030
autosomal dominant Aarskog syndrome
'autosomal dominant Aarskog syndrome' SubClassOf 'rare genetic syndromic intellectual disability'
http://purl.obolibrary.org/obo/MONDO_0022648
cardiomyopathy and deafness due to trna lysine gene mutation
'cardiomyopathy and deafness due to trna lysine gene mutation' EquivalentTo http://www.orpha.net/ORDO/Orphanet_138900
http://purl.obolibrary.org/obo/MONDO_0007039
neurofibromatosis type 2
http://purl.obolibrary.org/obo/GARD_0007193 EquivalentTo 'neurofibromatosis type 2'
http://purl.obolibrary.org/obo/MONDO_0007037
achondroplasia
'achondroplasia' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0007038
Achoo syndrome
http://purl.obolibrary.org/obo/GARD_0010036 EquivalentTo 'Achoo syndrome'
http://purl.obolibrary.org/obo/MONDO_0007035
acanthosis nigricans (disease)
'acanthosis nigricans (disease)' EquivalentTo http://purl.obolibrary.org/obo/OMIM_100600
'acanthosis nigricans (disease)' SubClassOf 'genetic skin disease'
'acanthosis nigricans (disease)' SubClassOf 'pigmentation disease'
'acanthosis nigricans (disease)' SubClassOf 'pigmentation anomaly of the skin'
http://purl.obolibrary.org/obo/MONDO_0007033
abducens nerve palsy
http://purl.obolibrary.org/obo/GARD_0009482 EquivalentTo 'abducens nerve palsy'
http://purl.obolibrary.org/obo/MONDO_0007031
familial abdominal aortic aneurysm
http://purl.obolibrary.org/obo/GARD_0009181 EquivalentTo 'familial abdominal aortic aneurysm'
http://purl.obolibrary.org/obo/MONDO_0007032
prune belly syndome
http://purl.obolibrary.org/obo/GARD_0007479 EquivalentTo 'prune belly syndome'
http://purl.obolibrary.org/obo/MONDO_0007040
Sakati-Nyhan syndrome
'Sakati-Nyhan syndrome' SubClassOf 'acrocephalopolysyndactyly'
'Sakati-Nyhan syndrome' SubClassOf 'acrocephalopolysyndactyly'
'Sakati-Nyhan syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_3128
http://purl.obolibrary.org/obo/GARD_0000115 EquivalentTo 'Sakati-Nyhan syndrome'
http://purl.obolibrary.org/obo/MONDO_0007041
Apert syndrome
http://purl.obolibrary.org/obo/GARD_0005833 EquivalentTo 'Apert syndrome'
http://purl.obolibrary.org/obo/MONDO_0007047
punctate palmoplantar keratoderma type III
http://purl.obolibrary.org/obo/GARD_0000125 EquivalentTo 'punctate palmoplantar keratoderma type III'
http://purl.obolibrary.org/obo/GARD_0000133 EquivalentTo 'punctate palmoplantar keratoderma type III'
http://purl.obolibrary.org/obo/MONDO_0007045
acrofacial dysostosis, Catania type
http://purl.obolibrary.org/obo/GARD_0000494 EquivalentTo 'acrofacial dysostosis, Catania type'
http://purl.obolibrary.org/obo/MONDO_0007042
Saethre-Chotzen syndrome
'Saethre-Chotzen syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0007029
http://purl.obolibrary.org/obo/MONDO_0007043
Pfeiffer syndrome
'Pfeiffer syndrome' SubClassOf 'acrocephalosyndactyly'
'Pfeiffer syndrome' SubClassOf 'acrocephalopolysyndactyly'
http://purl.obolibrary.org/obo/MONDO_0007051
acromegaloid facial appearance syndrome
'acromegaloid facial appearance syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'acromegaloid facial appearance syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0007052
growth hormone secreting pituitary adenoma
http://purl.obolibrary.org/obo/GARD_0010959 EquivalentTo 'growth hormone secreting pituitary adenoma'
http://purl.obolibrary.org/obo/MONDO_0022697
cerebral palsy athetoid
'cerebral palsy athetoid' EquivalentTo http://purl.obolibrary.org/obo/SCTID_75019001
'cerebral palsy athetoid' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C97169
http://purl.obolibrary.org/obo/MONDO_0022698
spastic diplegia cerebral palsy
http://purl.obolibrary.org/obo/MESH_C537945 EquivalentTo 'spastic diplegia cerebral palsy'
http://purl.obolibrary.org/obo/MONDO_0007059
acrorenal syndrome
'acrorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0007057
acroosteolysis dominant type
'acroosteolysis dominant type' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0007058
acropectorovertebral dysplasia
http://purl.obolibrary.org/obo/MESH_C566319 EquivalentTo 'acropectorovertebral dysplasia'
http://purl.obolibrary.org/obo/MONDO_0007053
restless legs syndrome 1
http://purl.obolibrary.org/obo/GARD_0009709 EquivalentTo 'restless legs syndrome 1'
http://purl.obolibrary.org/obo/MONDO_0007068
adenylosuccinate lyase deficiency
http://purl.obolibrary.org/obo/GARD_0000550 EquivalentTo 'adenylosuccinate lyase deficiency'
http://purl.obolibrary.org/obo/MONDO_0007066
adenosine triphosphatase deficiency, anemia due to
'adenosine triphosphatase deficiency, anemia due to' EquivalentTo http://www.orpha.net/ORDO/Orphanet_1044
http://purl.obolibrary.org/obo/MONDO_0007073
hypoglossia-hypodactyly syndrome
http://purl.obolibrary.org/obo/GARD_0000068 EquivalentTo 'hypoglossia-hypodactyly syndrome'
'hypoglossia-hypodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0007074
ainhum (disease)
http://purl.obolibrary.org/obo/GARD_0009512 EquivalentTo 'ainhum (disease)'
http://purl.obolibrary.org/obo/MONDO_0007072
adult syndrome
http://purl.obolibrary.org/obo/GARD_0000384 EquivalentTo 'adult syndrome'
http://purl.obolibrary.org/obo/MONDO_0007077
Tietz syndrome
'Tietz syndrome' SubClassOf 'rare genetic skin disease'
http://purl.obolibrary.org/obo/MONDO_0007078
Albright's hereditary osteodystrophy
http://purl.obolibrary.org/obo/GARD_0005770 EquivalentTo 'Albright's hereditary osteodystrophy'
http://purl.obolibrary.org/obo/GARD_0007486 EquivalentTo 'Albright's hereditary osteodystrophy'
http://purl.obolibrary.org/obo/MONDO_0007075
alacrima, congenital, autosomal dominant
http://purl.obolibrary.org/obo/MESH_C566307 EquivalentTo 'alacrima, congenital, autosomal dominant'
http://purl.obolibrary.org/obo/MONDO_0007085
alopecia-epilepsy-pyorrhea-intellectual disability syndrome
http://purl.obolibrary.org/obo/GARD_0000607 EquivalentTo 'alopecia-epilepsy-pyorrhea-intellectual disability syndrome'
http://purl.obolibrary.org/obo/MONDO_0007088
Alzheimer disease type 1
'Alzheimer disease type 1' SubClassOf 'Alzheimers disease'
'Alzheimer disease type 1' SubClassOf 'early-onset autosomal dominant Alzheimer disease'
http://purl.obolibrary.org/obo/MONDO_0007089
Alzheimer disease 2
http://purl.obolibrary.org/obo/GARD_0009467 EquivalentTo 'Alzheimer disease 2'
http://purl.obolibrary.org/obo/MONDO_0007094
amelogenesis imperfecta type 1A
http://purl.obolibrary.org/obo/MESH_C538240 EquivalentTo 'amelogenesis imperfecta type 1A'
http://purl.obolibrary.org/obo/MONDO_0007097
Finnish type amyloidosis
http://purl.obolibrary.org/obo/GARD_0002339 EquivalentTo 'Finnish type amyloidosis'
http://purl.obolibrary.org/obo/MONDO_0022513
atrophoderma of Pierini and Pasini
'atrophoderma of Pierini and Pasini' EquivalentTo http://purl.obolibrary.org/obo/SCTID_711524008
http://purl.obolibrary.org/obo/MONDO_0022529
bk-virus nephropathy
'bk-virus nephropathy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_713886006
http://purl.obolibrary.org/obo/MONDO_0022428
aluminosis
'aluminosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_90623003
http://purl.obolibrary.org/obo/MONDO_0022471
childhood aortic valve stenosis
'childhood aortic valve stenosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042981
http://purl.obolibrary.org/obo/MONDO_0012905
hypomyelinating leukodystrophy 6
http://purl.obolibrary.org/obo/GARD_0010917 EquivalentTo 'hypomyelinating leukodystrophy 6'
http://purl.obolibrary.org/obo/MONDO_0012919
type 1 diabetes mellitus 20
'type 1 diabetes mellitus 20' EquivalentTo http://www.orpha.net/ORDO/Orphanet_394580
http://purl.obolibrary.org/obo/MONDO_0012916
chromosome 2p16.1-p15 deletion syndrome
http://purl.obolibrary.org/obo/GARD_0013391 EquivalentTo 'chromosome 2p16.1-p15 deletion syndrome'
http://purl.obolibrary.org/obo/MONDO_0012917
SLI4
http://purl.obolibrary.org/obo/MESH_C567288 EquivalentTo 'SLI4'
http://purl.obolibrary.org/obo/MONDO_0012914
chromosome 1q21.1 deletion syndrome
http://purl.obolibrary.org/obo/GARD_0010813 EquivalentTo 'chromosome 1q21.1 deletion syndrome'
http://purl.obolibrary.org/obo/MONDO_0012922
IHPS5
http://purl.obolibrary.org/obo/MESH_C567283 EquivalentTo 'IHPS5'
http://purl.obolibrary.org/obo/MONDO_0012932
MYP16
http://purl.obolibrary.org/obo/MESH_C567259 EquivalentTo 'MYP16'
http://purl.obolibrary.org/obo/MONDO_0036915
benign ovarian mucinous tumor
'benign ovarian mucinous tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000115
http://purl.obolibrary.org/obo/MONDO_0012941
inflammatory bowel disease 25
http://purl.obolibrary.org/obo/MESH_C567251 EquivalentTo 'inflammatory bowel disease 25'
http://purl.obolibrary.org/obo/MONDO_0012950
ANIB10
http://purl.obolibrary.org/obo/MESH_C567237 EquivalentTo 'ANIB10'
http://purl.obolibrary.org/obo/MONDO_0012960
intellectual disability, autosomal dominant 5
http://purl.obolibrary.org/obo/GARD_0012558 EquivalentTo 'intellectual disability, autosomal dominant 5'
http://purl.obolibrary.org/obo/MONDO_0012980
endocrine-cerebro-osteodysplasia syndrome
'endocrine-cerebro-osteodysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043009
http://purl.obolibrary.org/obo/MESH_C567210 EquivalentTo 'endocrine-cerebro-osteodysplasia syndrome'
http://purl.obolibrary.org/obo/MONDO_0012986
bilateral parasagittal parieto-occipital polymicrogyria
http://purl.obolibrary.org/obo/MESH_C567201 EquivalentTo 'bilateral parasagittal parieto-occipital polymicrogyria'
http://purl.obolibrary.org/obo/MONDO_0012984
PHARC syndrome
http://purl.obolibrary.org/obo/MESH_C567203 EquivalentTo 'PHARC syndrome'
http://purl.obolibrary.org/obo/MONDO_0012992
pancreatic insufficiency-anemia-hyperostosis syndrome
'pancreatic insufficiency-anemia-hyperostosis syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'pancreatic insufficiency-anemia-hyperostosis syndrome' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0012993
DUH2
'DUH2' SubClassOf 'dyschromatosis universalis'
'DUH2' SubClassOf 'dyschromatosis universalis hereditaria'
http://purl.obolibrary.org/obo/MESH_C567194 EquivalentTo 'DUH2'
http://purl.obolibrary.org/obo/MONDO_0012991
Kahrizi syndrome
'Kahrizi syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_168972
http://purl.obolibrary.org/obo/MONDO_0012996
AGAT deficiency
http://purl.obolibrary.org/obo/GARD_0010323 EquivalentTo 'AGAT deficiency'
http://purl.obolibrary.org/obo/MONDO_0012997
cholestasis-pigmentary retinopathy-cleft palate syndrome
http://purl.obolibrary.org/obo/GARD_0009280 EquivalentTo 'cholestasis-pigmentary retinopathy-cleft palate syndrome'
http://purl.obolibrary.org/obo/MONDO_0012994
dopa-responsive dystonia due to sepiapterin reductase deficiency
http://purl.obolibrary.org/obo/GARD_0010365 EquivalentTo 'dopa-responsive dystonia due to sepiapterin reductase deficiency'
http://purl.obolibrary.org/obo/MONDO_0012995
MYP15
http://purl.obolibrary.org/obo/MESH_C567193 EquivalentTo 'MYP15'
http://purl.obolibrary.org/obo/MONDO_0022326
3 methylcrotonyl-coa carboxylase 1 deficiency
http://purl.obolibrary.org/obo/GARD_0005665 EquivalentTo '3 methylcrotonyl-coa carboxylase 1 deficiency'
'3 methylcrotonyl-coa carboxylase 1 deficiency' SubClassOf 'inborn errors of metabolism'
http://purl.obolibrary.org/obo/MONDO_0022180
chromosome 16 trisomy
'chromosome 16 trisomy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C37866
http://purl.obolibrary.org/obo/MONDO_0012803
diarrhea-vomiting due to trehalase deficiency
http://purl.obolibrary.org/obo/GARD_0010372 EquivalentTo 'diarrhea-vomiting due to trehalase deficiency'
http://purl.obolibrary.org/obo/MONDO_0012805
childhood onset GLUT1 deficiency syndrome 2
http://purl.obolibrary.org/obo/GARD_0010541 EquivalentTo 'childhood onset GLUT1 deficiency syndrome 2'
http://purl.obolibrary.org/obo/MONDO_0012811
ANIB8
http://purl.obolibrary.org/obo/MESH_C567405 EquivalentTo 'ANIB8'
http://purl.obolibrary.org/obo/MONDO_0012817
Ewing sarcoma
http://purl.obolibrary.org/obo/GARD_0006390 EquivalentTo 'Ewing sarcoma'
http://purl.obolibrary.org/obo/MONDO_0012810
ANIB7
http://purl.obolibrary.org/obo/MESH_C567406 EquivalentTo 'ANIB7'
http://purl.obolibrary.org/obo/MONDO_0012833
Crouzon syndrome-acanthosis nigricans syndrome
'Crouzon syndrome-acanthosis nigricans syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C38145
http://purl.obolibrary.org/obo/MONDO_0012839
pyogenic bacterial infections due to MyD88 deficiency
http://purl.obolibrary.org/obo/GARD_0012638 EquivalentTo 'pyogenic bacterial infections due to MyD88 deficiency'
http://purl.obolibrary.org/obo/MONDO_0012830
chromosome 10q23 deletion syndrome
http://purl.obolibrary.org/obo/GARD_0013018 EquivalentTo 'chromosome 10q23 deletion syndrome'
http://purl.obolibrary.org/obo/MONDO_0012846
GEFSP6
http://purl.obolibrary.org/obo/MESH_C567371 EquivalentTo 'GEFSP6'
http://purl.obolibrary.org/obo/MONDO_0012859
autosomal recessive osteopetrosis 7
'autosomal recessive osteopetrosis 7' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0012860
thrombophilia due to protein C deficiency, autosomal recessive
http://purl.obolibrary.org/obo/GARD_0013041 EquivalentTo 'thrombophilia due to protein C deficiency, autosomal recessive'
http://purl.obolibrary.org/obo/MONDO_0012864
chromosome 2q32-q33 deletion syndrome
http://purl.obolibrary.org/obo/GARD_0013206 EquivalentTo 'chromosome 2q32-q33 deletion syndrome'
http://purl.obolibrary.org/obo/MONDO_0012877
MAFD8
http://purl.obolibrary.org/obo/MESH_C567530 EquivalentTo 'MAFD8'
http://purl.obolibrary.org/obo/MONDO_0012878
Cowden syndrome 2
http://purl.obolibrary.org/obo/MESH_C567337 EquivalentTo 'Cowden syndrome 2'
http://purl.obolibrary.org/obo/MONDO_0012873
Ehlers-Danlos syndrome, spondylocheirodysplastic type
'Ehlers-Danlos syndrome, spondylocheirodysplastic type' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0012882
MAFD9
http://purl.obolibrary.org/obo/MESH_C567531 EquivalentTo 'MAFD9'
http://purl.obolibrary.org/obo/MONDO_0012883
acute promyelocytic leukemia
http://purl.obolibrary.org/obo/GARD_0000538 EquivalentTo 'acute promyelocytic leukemia'
http://purl.obolibrary.org/obo/MONDO_0012885
SRD5A3-CDG
http://purl.obolibrary.org/obo/GARD_0012397 EquivalentTo 'SRD5A3-CDG'
http://purl.obolibrary.org/obo/MONDO_0012899
AGA3
http://purl.obolibrary.org/obo/MESH_C567317 EquivalentTo 'AGA3'
http://purl.obolibrary.org/obo/MONDO_0012895
torsion dystonia 17
http://purl.obolibrary.org/obo/MESH_C567319 EquivalentTo 'torsion dystonia 17'
http://purl.obolibrary.org/obo/MONDO_0022071
carbon baby syndrome
'carbon baby syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_238700008
http://purl.obolibrary.org/obo/MONDO_0012703
lissencephaly due to TUBA1A mutation
http://purl.obolibrary.org/obo/MESH_C566908 EquivalentTo 'lissencephaly due to TUBA1A mutation'
http://purl.obolibrary.org/obo/MONDO_0012701
cataract 12 multiple types
http://purl.obolibrary.org/obo/MESH_C566909 EquivalentTo 'cataract 12 multiple types'
http://purl.obolibrary.org/obo/MONDO_0012705
ETL3
http://purl.obolibrary.org/obo/MESH_C566903 EquivalentTo 'ETL3'
http://purl.obolibrary.org/obo/MONDO_0012715
MGR12
'MGR12' SubClassOf 'rare genetic vascular disease'
http://purl.obolibrary.org/obo/MONDO_0012712
DYTCA
http://purl.obolibrary.org/obo/MESH_C567131 EquivalentTo 'DYTCA'
http://purl.obolibrary.org/obo/MONDO_0012718
hypotonia with lactic acidemia and hyperammonemia
http://purl.obolibrary.org/obo/MESH_C567126 EquivalentTo 'hypotonia with lactic acidemia and hyperammonemia'
http://purl.obolibrary.org/obo/MONDO_0012716
spondyloepiphyseal dysplasia, Cantu type
http://purl.obolibrary.org/obo/GARD_0010629 EquivalentTo 'spondyloepiphyseal dysplasia, Cantu type'
http://purl.obolibrary.org/obo/MONDO_0012726
autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
http://purl.obolibrary.org/obo/GARD_0010889 EquivalentTo 'autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome'
http://purl.obolibrary.org/obo/MONDO_0012727
mucocutaneous lymph node syndrome
http://purl.obolibrary.org/obo/GARD_0006816 EquivalentTo 'mucocutaneous lymph node syndrome'
http://purl.obolibrary.org/obo/MONDO_0012721
progressive myoclonic epilepsy type 3
http://purl.obolibrary.org/obo/MESH_C567095 EquivalentTo 'progressive myoclonic epilepsy type 3'
http://purl.obolibrary.org/obo/MONDO_0012734
SERKAL syndrome
http://purl.obolibrary.org/obo/GARD_0010302 EquivalentTo 'SERKAL syndrome'
http://purl.obolibrary.org/obo/MONDO_0012735
Temple-Baraitser syndrome
http://purl.obolibrary.org/obo/GARD_0009441 EquivalentTo 'Temple-Baraitser syndrome'
http://purl.obolibrary.org/obo/MONDO_0012739
microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
http://purl.obolibrary.org/obo/GARD_0010300 EquivalentTo 'microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome'
http://purl.obolibrary.org/obo/MONDO_0012747
glycogen storage disease due to aldolase A deficiency
http://purl.obolibrary.org/obo/GARD_0000600 EquivalentTo 'glycogen storage disease due to aldolase A deficiency'
http://purl.obolibrary.org/obo/MONDO_0012756
proximal 16p11.2 microdeletion syndrome
'proximal 16p11.2 microdeletion syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C120408
http://purl.obolibrary.org/obo/MONDO_0012750
lethal arthrogryposis-anterior horn cell disease syndrome
http://purl.obolibrary.org/obo/MESH_C567502 EquivalentTo 'lethal arthrogryposis-anterior horn cell disease syndrome'
http://purl.obolibrary.org/obo/MONDO_0012752
ANIB6
http://purl.obolibrary.org/obo/MESH_C567500 EquivalentTo 'ANIB6'
http://purl.obolibrary.org/obo/MONDO_0012769
HPC14
http://purl.obolibrary.org/obo/MESH_C567448 EquivalentTo 'HPC14'
http://purl.obolibrary.org/obo/MONDO_0012768
HPC11
http://purl.obolibrary.org/obo/MESH_C567449 EquivalentTo 'HPC11'
http://purl.obolibrary.org/obo/MONDO_0012765
LMPH1B
http://purl.obolibrary.org/obo/MESH_C567452 EquivalentTo 'LMPH1B'
http://purl.obolibrary.org/obo/MONDO_0012770
HPC15
http://purl.obolibrary.org/obo/MESH_C567447 EquivalentTo 'HPC15'
http://purl.obolibrary.org/obo/MONDO_0012774
chromosome 15q13.3 microdeletion syndrome
http://purl.obolibrary.org/obo/GARD_0010296 EquivalentTo 'chromosome 15q13.3 microdeletion syndrome'
http://purl.obolibrary.org/obo/MONDO_0012783
RFT1-CDG
http://purl.obolibrary.org/obo/GARD_0012394 EquivalentTo 'RFT1-CDG'
http://purl.obolibrary.org/obo/MONDO_0012784
autosomal recessive ataxia due to ubiquinone deficiency
http://purl.obolibrary.org/obo/GARD_0010294 EquivalentTo 'autosomal recessive ataxia due to ubiquinone deficiency'
http://purl.obolibrary.org/obo/MONDO_0012787
hereditary spastic paraplegia 39
http://purl.obolibrary.org/obo/GARD_0004924 EquivalentTo 'hereditary spastic paraplegia 39'
http://purl.obolibrary.org/obo/MONDO_0012785
IHPS3
http://purl.obolibrary.org/obo/MESH_C567435 EquivalentTo 'IHPS3'
http://purl.obolibrary.org/obo/MONDO_0012786
juvenile cataract-microcornea-renal glucosuria syndrome
http://purl.obolibrary.org/obo/MESH_C567434 EquivalentTo 'juvenile cataract-microcornea-renal glucosuria syndrome'
http://purl.obolibrary.org/obo/MONDO_0012792
mitochondrial DNA depletion syndrome 8a
http://purl.obolibrary.org/obo/GARD_0013200 EquivalentTo 'mitochondrial DNA depletion syndrome 8a'
http://purl.obolibrary.org/obo/MONDO_0012797
OTSC8
http://purl.obolibrary.org/obo/MESH_C567421 EquivalentTo 'OTSC8'
http://purl.obolibrary.org/obo/MONDO_0012791
mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
http://purl.obolibrary.org/obo/MESH_C567624 EquivalentTo 'mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria'
http://purl.obolibrary.org/obo/MONDO_0022174
chromosome 12p deletion
'chromosome 12p deletion' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C36410
http://purl.obolibrary.org/obo/MONDO_0017409
fetal cytomegalovirus syndrome
'fetal cytomegalovirus syndrome' SubClassOf 'infectious embryofetopathy'
'fetal cytomegalovirus syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C122427
'fetal cytomegalovirus syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042971
http://purl.obolibrary.org/obo/MONDO_0017408
rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
http://purl.obolibrary.org/obo/GARD_0010407 EquivalentTo 'rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome'
http://purl.obolibrary.org/obo/MONDO_0017416
postpoliomyelitis syndrome
http://purl.obolibrary.org/obo/GARD_0004454 EquivalentTo 'postpoliomyelitis syndrome'
http://purl.obolibrary.org/obo/MONDO_0017419
non-syndromic amelia
'non-syndromic amelia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34370
http://purl.obolibrary.org/obo/MONDO_0017413
Reunion island larsen syndrome
'Reunion island larsen syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0002319
http://purl.obolibrary.org/obo/MONDO_0017424
non-syndromic brachydactyly
'non-syndromic brachydactyly' EquivalentTo http://purl.obolibrary.org/obo/SCTID_43476002
http://purl.obolibrary.org/obo/MONDO_0017439
tetra-amelia
http://purl.obolibrary.org/obo/GARD_0005148 EquivalentTo 'tetra-amelia'
http://purl.obolibrary.org/obo/MONDO_0017436
lethal congenital contracture syndrome
http://purl.obolibrary.org/obo/GARD_0012643 EquivalentTo 'lethal congenital contracture syndrome'
http://purl.obolibrary.org/obo/MONDO_0017441
congenital absence of upper arm and forearm with hand present
http://purl.obolibrary.org/obo/GARD_0012123 EquivalentTo 'congenital absence of upper arm and forearm with hand present'
http://purl.obolibrary.org/obo/MONDO_0017457
preaxial polydactyly of toes
'preaxial polydactyly of toes' EquivalentTo http://purl.obolibrary.org/obo/SCTID_205132000
http://purl.obolibrary.org/obo/MONDO_0017458
postaxial polydactyly of toes
'postaxial polydactyly of toes' EquivalentTo http://purl.obolibrary.org/obo/SCTID_205133005
http://purl.obolibrary.org/obo/MONDO_0017459
central polydactyly of toes
'central polydactyly of toes' EquivalentTo http://purl.obolibrary.org/obo/SCTID_253967005
http://purl.obolibrary.org/obo/MONDO_0017453
fetal parvovirus syndrome
http://purl.obolibrary.org/obo/GARD_0004236 EquivalentTo 'fetal parvovirus syndrome'
http://purl.obolibrary.org/obo/GARD_0002310 EquivalentTo 'fetal parvovirus syndrome'
http://purl.obolibrary.org/obo/MONDO_0017462
congenital pseudoarthrosis of the tibia
'congenital pseudoarthrosis of the tibia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C132080
http://purl.obolibrary.org/obo/MONDO_0017474
macrodactyly of fingers
http://purl.obolibrary.org/obo/GARD_0008529 EquivalentTo 'macrodactyly of fingers'
http://purl.obolibrary.org/obo/MONDO_0017475
macrodactyly of toes
http://purl.obolibrary.org/obo/GARD_0006951 EquivalentTo 'macrodactyly of toes'
http://purl.obolibrary.org/obo/MONDO_0007918
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
http://purl.obolibrary.org/obo/GARD_0003622 EquivalentTo 'microcephaly with or without chorioretinopathy, lymphedema, or mental retardation'
'microcephaly with or without chorioretinopathy, lymphedema, or mental retardation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0007917
lymphedema-cerebral arteriovenous anomaly syndrome
http://purl.obolibrary.org/obo/GARD_0009217 EquivalentTo 'lymphedema-cerebral arteriovenous anomaly syndrome'
http://purl.obolibrary.org/obo/MONDO_0007925
chromosome 5q deletion syndrome
http://purl.obolibrary.org/obo/GARD_0008723 EquivalentTo 'chromosome 5q deletion syndrome'
'chromosome 5q deletion syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_277597005
http://purl.obolibrary.org/obo/MONDO_0007926
Waldenstrom macroglobulinemia
http://purl.obolibrary.org/obo/GARD_0007872 EquivalentTo 'Waldenstrom macroglobulinemia'
http://purl.obolibrary.org/obo/MONDO_0007924
Bannayan-Riley-Ruvalcaba syndrome
'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0007921
yellow nail syndrome
'yellow nail syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001452
http://purl.obolibrary.org/obo/MONDO_0007922
lymphedema-distichiasis syndrome
'lymphedema-distichiasis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0007920
Meige disease
http://purl.obolibrary.org/obo/GARD_0003324 EquivalentTo 'Meige disease'
http://purl.obolibrary.org/obo/MONDO_0007934
benign concentric annular macular dystrophy
http://purl.obolibrary.org/obo/GARD_0009887 EquivalentTo 'benign concentric annular macular dystrophy'
http://purl.obolibrary.org/obo/MONDO_0007932
age related macular degeneration 2
http://purl.obolibrary.org/obo/MESH_C562479 EquivalentTo 'age related macular degeneration 2'
http://purl.obolibrary.org/obo/MONDO_0007933
VMD1
http://purl.obolibrary.org/obo/GARD_0010120 EquivalentTo 'VMD1'
http://purl.obolibrary.org/obo/MONDO_0007930
Bernard-Soulier syndrome, type A2, autosomal dominant
'Bernard-Soulier syndrome, type A2, autosomal dominant' SubClassOf 'Bernard-Soulier syndrome'
'Bernard-Soulier syndrome, type A2, autosomal dominant' SubClassOf 'Bernard-Soulier syndrome'
http://purl.obolibrary.org/obo/MONDO_0007931
best vitelliform macular dystrophy
http://purl.obolibrary.org/obo/GARD_0000182 EquivalentTo 'best vitelliform macular dystrophy'
http://purl.obolibrary.org/obo/MONDO_0007947
Marfan syndrome
'Marfan syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0007948
marfanoid hypermobility syndrome
http://purl.obolibrary.org/obo/MESH_C531742 EquivalentTo 'marfanoid hypermobility syndrome'
http://purl.obolibrary.org/obo/MONDO_0007946
jaw-winking syndrome
http://purl.obolibrary.org/obo/GARD_0006972 EquivalentTo 'jaw-winking syndrome'
http://purl.obolibrary.org/obo/MONDO_0007943
Nager acrofacial dysostosis
'Nager acrofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0007949
Marshall syndrome
'Marshall syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0006984 EquivalentTo 'Marshall syndrome'
http://purl.obolibrary.org/obo/MONDO_0007953
binder syndrome
'binder syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0006992 EquivalentTo 'binder syndrome'
http://purl.obolibrary.org/obo/MONDO_0007950
mastocytosis
http://purl.obolibrary.org/obo/GARD_0006987 EquivalentTo 'mastocytosis'
http://purl.obolibrary.org/obo/MONDO_0007967
melanoma and neural system tumor syndrome
http://purl.obolibrary.org/obo/GARD_0008468 EquivalentTo 'melanoma and neural system tumor syndrome'
http://purl.obolibrary.org/obo/MONDO_0007960
megacystis-microcolon-intestinal hypoperistalsis syndrome
http://purl.obolibrary.org/obo/GARD_0003442 EquivalentTo 'megacystis-microcolon-intestinal hypoperistalsis syndrome'
'megacystis-microcolon-intestinal hypoperistalsis syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_253781004
http://purl.obolibrary.org/obo/MONDO_0007973
mental and growth retardation with amblyopia
'mental and growth retardation with amblyopia' SubClassOf 'disease has feature' some 'amblyopia (disease)'
http://purl.obolibrary.org/obo/SCTID_95437004
'adult respiratory distress syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_95437004
http://purl.obolibrary.org/obo/MONDO_0007988
autosomal dominant microcephaly
'autosomal dominant microcephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0007986
Metatropic dysplasia
'Metatropic dysplasia' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0007983
Schmid metaphyseal chondrodysplasia
http://purl.obolibrary.org/obo/GARD_0007029 EquivalentTo 'Schmid metaphyseal chondrodysplasia'
http://purl.obolibrary.org/obo/MONDO_0007982
metaphyseal chondrodysplasia, Jansen type
http://purl.obolibrary.org/obo/GARD_0000079 EquivalentTo 'metaphyseal chondrodysplasia, Jansen type'
http://purl.obolibrary.org/obo/MONDO_0017308
Marfan syndrome type 2
http://purl.obolibrary.org/obo/MESH_C535911 EquivalentTo 'Marfan syndrome type 2'
http://purl.obolibrary.org/obo/MONDO_0007998
Microspherophakia-metaphyseal dysplasia syndrome
http://purl.obolibrary.org/obo/GARD_0005481 EquivalentTo 'Microspherophakia-metaphyseal dysplasia syndrome'
http://purl.obolibrary.org/obo/MONDO_0007995
MCOPCT1
http://purl.obolibrary.org/obo/GARD_0009610 EquivalentTo 'MCOPCT1'
http://purl.obolibrary.org/obo/MONDO_0007992
microcornea-glaucoma-absent frontal sinuses syndrome
http://purl.obolibrary.org/obo/GARD_0003637 EquivalentTo 'microcornea-glaucoma-absent frontal sinuses syndrome'
http://purl.obolibrary.org/obo/MONDO_0007993
microgastria-limb reduction defect syndrome
http://purl.obolibrary.org/obo/MESH_C537554 EquivalentTo 'microgastria-limb reduction defect syndrome'
http://purl.obolibrary.org/obo/GARD_0003640 EquivalentTo 'microgastria-limb reduction defect syndrome'
http://purl.obolibrary.org/obo/MONDO_0007990
multiple benign circumferential skin creases on limbs
http://purl.obolibrary.org/obo/GARD_0003589 EquivalentTo 'multiple benign circumferential skin creases on limbs'
http://purl.obolibrary.org/obo/MONDO_0007991
microcephaly-deafness-intellectual disability syndrome
http://purl.obolibrary.org/obo/GARD_0000230 EquivalentTo 'microcephaly-deafness-intellectual disability syndrome'
http://purl.obolibrary.org/obo/MONDO_0017317
phakomatosis pigmentokeratotica
http://purl.obolibrary.org/obo/GARD_0004311 EquivalentTo 'phakomatosis pigmentokeratotica'
http://purl.obolibrary.org/obo/MESH_C537893 EquivalentTo 'phakomatosis pigmentokeratotica'
'phakomatosis pigmentokeratotica' SubClassOf 'nervous system benign neoplasm'
'phakomatosis pigmentokeratotica' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042983
'phakomatosis pigmentokeratotica' SubClassOf 'genetic nervous system disorder'
'phakomatosis pigmentokeratotica' SubClassOf 'rare nervous system tumor'
http://purl.obolibrary.org/obo/MONDO_0017318
phakomatosis pigmentovascularis
'phakomatosis pigmentovascularis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042983
http://purl.obolibrary.org/obo/GARD_0004312 EquivalentTo 'phakomatosis pigmentovascularis'
'phakomatosis pigmentovascularis' SubClassOf 'rare genetic skin disease'
http://purl.obolibrary.org/obo/MONDO_0017319
hereditary elliptocytosis
http://purl.obolibrary.org/obo/GARD_0006621 EquivalentTo 'hereditary elliptocytosis'
http://purl.obolibrary.org/obo/MONDO_0017314
Ehlers-Danlos syndrome, vascular type
http://purl.obolibrary.org/obo/GARD_0002082 EquivalentTo 'Ehlers-Danlos syndrome, vascular type'
http://purl.obolibrary.org/obo/MONDO_0017315
short stature-webbed neck-heart disease syndrome
http://purl.obolibrary.org/obo/GARD_0000583 EquivalentTo 'short stature-webbed neck-heart disease syndrome'
http://purl.obolibrary.org/obo/MONDO_0017316
short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
http://purl.obolibrary.org/obo/GARD_0004841 EquivalentTo 'short stature-deafness-neutrophil dysfunction-dysmorphism syndrome'
http://purl.obolibrary.org/obo/MONDO_0017312
Perrault syndrome
http://purl.obolibrary.org/obo/GARD_0002542 EquivalentTo 'Perrault syndrome'
http://purl.obolibrary.org/obo/MONDO_0017326
infective dermatitis associated with HTLV-1
'infective dermatitis associated with HTLV-1' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C129260
http://purl.obolibrary.org/obo/MONDO_0017322
disorders of vitamin d metabolism
'disorders of vitamin d metabolism' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0017338
fatal multiple mitochondrial dysfunctions syndrome
http://purl.obolibrary.org/obo/MESH_C565304 EquivalentTo 'fatal multiple mitochondrial dysfunctions syndrome'
http://purl.obolibrary.org/obo/GARD_0012632 EquivalentTo 'fatal multiple mitochondrial dysfunctions syndrome'
http://purl.obolibrary.org/obo/SCTID_46785007
'familial juvenile hyperuricemic nephropathy type 1' EquivalentTo http://purl.obolibrary.org/obo/SCTID_46785007
'familial juvenile hyperuricemic nephropathy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_46785007
http://purl.obolibrary.org/obo/MONDO_0017364
POEMS syndrome
http://purl.obolibrary.org/obo/GARD_0007411 EquivalentTo 'POEMS syndrome'
http://purl.obolibrary.org/obo/MONDO_0017360
vitamin B12-unresponsive methylmalonic acidemia type mut0
'vitamin B12-unresponsive methylmalonic acidemia type mut0' EquivalentTo http://purl.obolibrary.org/obo/SCTID_237945003
http://purl.obolibrary.org/obo/MONDO_0017361
congenital rubella syndrome
http://purl.obolibrary.org/obo/GARD_0004744 EquivalentTo 'congenital rubella syndrome'
http://purl.obolibrary.org/obo/MONDO_0017363
idiopathic chronic eosinophilic pneumonia
http://purl.obolibrary.org/obo/GARD_0001130 EquivalentTo 'idiopathic chronic eosinophilic pneumonia'
http://purl.obolibrary.org/obo/MONDO_0017380
juvenile polyposis syndrome
http://purl.obolibrary.org/obo/GARD_0003065 EquivalentTo 'juvenile polyposis syndrome'
http://purl.obolibrary.org/obo/MONDO_0017381
congenital herpes simplex virus infection
'congenital herpes simplex virus infection' SubClassOf 'rare viral disease'
'congenital herpes simplex virus infection' SubClassOf 'infectious embryofetopathy'
'congenital herpes simplex virus infection' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042971
http://purl.obolibrary.org/obo/MONDO_0017379
polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
http://purl.obolibrary.org/obo/GARD_0004424 EquivalentTo 'polyneuropathy-intellectual disability-acromicria-premature menopause syndrome'
http://purl.obolibrary.org/obo/MONDO_0017375
congenital enterovirus infection
'congenital enterovirus infection' SubClassOf 'rare viral disease'
'congenital enterovirus infection' SubClassOf 'enterovirus infectious disease'
'congenital enterovirus infection' SubClassOf 'infectious embryofetopathy'
'congenital enterovirus infection' SubClassOf 'fetal enterovirus syndrome'
http://purl.obolibrary.org/obo/MONDO_0017377
preaxial polydactyly-colobomata-intellectual disability syndrome
http://purl.obolibrary.org/obo/GARD_0004304 EquivalentTo 'preaxial polydactyly-colobomata-intellectual disability syndrome'
http://purl.obolibrary.org/obo/MONDO_0017373
poliomyelitis
http://purl.obolibrary.org/obo/GARD_0007413 EquivalentTo 'poliomyelitis'
http://purl.obolibrary.org/obo/MONDO_0017393
blepharophimosis-intellectual disability syndrome
http://purl.obolibrary.org/obo/GARD_0010892 EquivalentTo 'blepharophimosis-intellectual disability syndrome'
http://purl.obolibrary.org/obo/MONDO_0007804
Pallister-hall syndrome
'Pallister-hall syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0007805
hypotrichosis 2
http://purl.obolibrary.org/obo/MESH_C564143 EquivalentTo 'hypotrichosis 2'
http://purl.obolibrary.org/obo/MONDO_0007802
HYSP3
http://purl.obolibrary.org/obo/MESH_C567191 EquivalentTo 'HYSP3'
http://purl.obolibrary.org/obo/MONDO_0007803
multiple system atrophy
http://purl.obolibrary.org/obo/GARD_0007079 EquivalentTo 'multiple system atrophy'
'multiple system atrophy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001050
http://purl.obolibrary.org/obo/MONDO_0007800
chromosome 18p deletion syndrome
http://purl.obolibrary.org/obo/GARD_0008631 EquivalentTo 'chromosome 18p deletion syndrome'
http://purl.obolibrary.org/obo/MONDO_0007808
ichthyosis hystrix of Curth-Macklin
http://purl.obolibrary.org/obo/GARD_0002954 EquivalentTo 'ichthyosis hystrix of Curth-Macklin'
http://purl.obolibrary.org/obo/MONDO_0007811
ichthyosis-cheek-eyebrow syndrome
http://purl.obolibrary.org/obo/GARD_0002947 EquivalentTo 'ichthyosis-cheek-eyebrow syndrome'
http://purl.obolibrary.org/obo/MONDO_0007810
autosomal dominant ichthyosis vulgaris
http://purl.obolibrary.org/obo/GARD_0006752 EquivalentTo 'autosomal dominant ichthyosis vulgaris'
'autosomal dominant ichthyosis vulgaris' SubClassOf 'ichthyosis vulgaris'
http://purl.obolibrary.org/obo/GARD_0001897 EquivalentTo 'autosomal dominant ichthyosis vulgaris'
'autosomal dominant ichthyosis vulgaris' EquivalentTo 'ichthyosis vulgaris' and ('has modifier' some http://purl.obolibrary.org/obo/HP_0000006)
http://purl.obolibrary.org/obo/MONDO_0007819
solitary median maxillary central incisor syndrome
http://purl.obolibrary.org/obo/GARD_0004877 EquivalentTo 'solitary median maxillary central incisor syndrome'
http://purl.obolibrary.org/obo/MONDO_0007817
IgE responsiveness, atopic
'IgE responsiveness, atopic' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3116
http://purl.obolibrary.org/obo/MONDO_0007827
inclusion body myositis
http://purl.obolibrary.org/obo/GARD_0003896 EquivalentTo 'inclusion body myositis'
http://purl.obolibrary.org/obo/MONDO_0007838
Jacobsen syndrome
http://purl.obolibrary.org/obo/GARD_0000307 EquivalentTo 'Jacobsen syndrome'
'Jacobsen syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_715438008
http://purl.obolibrary.org/obo/MONDO_0007839
Aase-Smith syndrome
'Aase-Smith syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0005642 EquivalentTo 'Aase-Smith syndrome'
http://purl.obolibrary.org/obo/MONDO_0007848
autosomal dominant keratitis
http://purl.obolibrary.org/obo/GARD_0003089 EquivalentTo 'autosomal dominant keratitis'
http://purl.obolibrary.org/obo/MONDO_0007844
hypogonadotropic hypogonadism 2 with or without anosmia
http://purl.obolibrary.org/obo/GARD_0003070 EquivalentTo 'hypogonadotropic hypogonadism 2 with or without anosmia'
http://purl.obolibrary.org/obo/MONDO_0007842
Ehlers-Danlos syndrome type 11
http://purl.obolibrary.org/obo/GARD_0003054 EquivalentTo 'Ehlers-Danlos syndrome type 11'
http://purl.obolibrary.org/obo/MONDO_0007841
Coxopodopatellar syndrome
http://purl.obolibrary.org/obo/GARD_0003030 EquivalentTo 'Coxopodopatellar syndrome'
http://purl.obolibrary.org/obo/MONDO_0007859
palmoplantar keratoderma i, striate, focal, or diffuse
http://purl.obolibrary.org/obo/GARD_0009172 EquivalentTo 'palmoplantar keratoderma i, striate, focal, or diffuse'
http://purl.obolibrary.org/obo/MONDO_0007852
palmoplantar keratoderma-deafness syndrome
http://purl.obolibrary.org/obo/GARD_0003094 EquivalentTo 'palmoplantar keratoderma-deafness syndrome'
http://purl.obolibrary.org/obo/MONDO_0007866
Bart-Pumphrey syndrome
http://purl.obolibrary.org/obo/GARD_0003125 EquivalentTo 'Bart-Pumphrey syndrome'
http://purl.obolibrary.org/obo/MONDO_0007867
nonsyndromic congenital nail disorder 2
http://purl.obolibrary.org/obo/GARD_0009760 EquivalentTo 'nonsyndromic congenital nail disorder 2'
http://purl.obolibrary.org/obo/MONDO_0007863
Kleine-Levin syndrome
'Kleine-Levin syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001354
http://purl.obolibrary.org/obo/MONDO_0007861
isolated cloverleaf skull syndrome
'isolated cloverleaf skull syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254022009
http://purl.obolibrary.org/obo/MONDO_0007879
larynx atresia
http://purl.obolibrary.org/obo/GARD_0003192 EquivalentTo 'larynx atresia'
http://purl.obolibrary.org/obo/GARD_0003194 EquivalentTo 'larynx atresia'
http://purl.obolibrary.org/obo/MONDO_0007878
congenital laryngomalacia
http://purl.obolibrary.org/obo/GARD_0006865 EquivalentTo 'congenital laryngomalacia'
http://purl.obolibrary.org/obo/MONDO_0007876
laryngeal abductor paralysis
http://purl.obolibrary.org/obo/GARD_0005509 EquivalentTo 'laryngeal abductor paralysis'
http://purl.obolibrary.org/obo/MONDO_0007874
trichorhinophalangeal syndrome type II
http://purl.obolibrary.org/obo/GARD_0007801 EquivalentTo 'trichorhinophalangeal syndrome type II'
http://purl.obolibrary.org/obo/MONDO_0007872
LADD syndrome
'LADD syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0006848 EquivalentTo 'LADD syndrome'
http://purl.obolibrary.org/obo/MONDO_0007888
hereditary leiomyomatosis and renal cell cancer
http://purl.obolibrary.org/obo/GARD_0010096 EquivalentTo 'hereditary leiomyomatosis and renal cell cancer'
http://purl.obolibrary.org/obo/MONDO_0007880
congenital laryngeal web
'congenital laryngeal web' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C98970
http://purl.obolibrary.org/obo/MONDO_0017200
polycystic ovaries-urethral sphincter dysfunction syndrome
http://purl.obolibrary.org/obo/GARD_0002365 EquivalentTo 'polycystic ovaries-urethral sphincter dysfunction syndrome'
http://purl.obolibrary.org/obo/MONDO_0007899
lichen sclerosus et atrophicus
http://purl.obolibrary.org/obo/GARD_0006905 EquivalentTo 'lichen sclerosus et atrophicus'
http://purl.obolibrary.org/obo/MONDO_0007895
Platyspondylic dysplasia, Torrance type
http://purl.obolibrary.org/obo/GARD_0004382 EquivalentTo 'Platyspondylic dysplasia, Torrance type'
'Platyspondylic dysplasia, Torrance type' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0007893
Noonan syndrome with multiple lentigines
'Noonan syndrome with multiple lentigines' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0001100 EquivalentTo 'Noonan syndrome with multiple lentigines'
http://purl.obolibrary.org/obo/MONDO_0017242
cutaneous collagenous vasculopathy
http://purl.obolibrary.org/obo/GARD_0012428 EquivalentTo 'cutaneous collagenous vasculopathy'
http://purl.obolibrary.org/obo/MONDO_0017282
alveolar echinococcosis
http://purl.obolibrary.org/obo/GARD_0000207 EquivalentTo 'alveolar echinococcosis'
http://purl.obolibrary.org/obo/MONDO_0017276
frontotemporal dementia
http://purl.obolibrary.org/obo/GARD_0008436 EquivalentTo 'frontotemporal dementia'
http://purl.obolibrary.org/obo/MONDO_0017275
spastic paraplegia-facial-cutaneous lesions syndrome
http://purl.obolibrary.org/obo/GARD_0000806 EquivalentTo 'spastic paraplegia-facial-cutaneous lesions syndrome'
http://purl.obolibrary.org/obo/MONDO_0017287
IgG4-related disease
http://purl.obolibrary.org/obo/GARD_0012521 EquivalentTo 'IgG4-related disease'
http://purl.obolibrary.org/obo/MONDO_0017285
penoscrotal transposition (disease)
http://purl.obolibrary.org/obo/GARD_0004273 EquivalentTo 'penoscrotal transposition (disease)'
'penoscrotal transposition (disease)' EquivalentTo http://purl.obolibrary.org/obo/SCTID_312005008
http://purl.obolibrary.org/obo/MONDO_0017297
CLIPPERS
http://purl.obolibrary.org/obo/GARD_0010779 EquivalentTo 'CLIPPERS'
http://purl.obolibrary.org/obo/MONDO_0007904
median nodule of the upper lip
'median nodule of the upper lip' SubClassOf 'rare genetic developmental defect during embryogenesis'
'median nodule of the upper lip' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0007909
familial multiple lipomatosis
http://purl.obolibrary.org/obo/GARD_0012925 EquivalentTo 'familial multiple lipomatosis'
http://purl.obolibrary.org/obo/MONDO_0007906
familial partial lipodystrophy, Dunnigan type
http://purl.obolibrary.org/obo/GARD_0003126 EquivalentTo 'familial partial lipodystrophy, Dunnigan type'
http://purl.obolibrary.org/obo/MONDO_0007705
Heinz body anemia
http://purl.obolibrary.org/obo/GARD_0010718 EquivalentTo 'Heinz body anemia'
http://purl.obolibrary.org/obo/MONDO_0007706
cavernous hemangiomas of face-supraumbilical midline raphe syndrome
http://purl.obolibrary.org/obo/GARD_0008524 EquivalentTo 'cavernous hemangiomas of face-supraumbilical midline raphe syndrome'
http://purl.obolibrary.org/obo/MONDO_0007704
osteoarthritis susceptibility 2
'osteoarthritis susceptibility 2' EquivalentTo http://purl.obolibrary.org/obo/SCTID_239869009
'osteoarthritis susceptibility 2' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34671
http://purl.obolibrary.org/obo/MONDO_0007702
heart-hand syndrome type 3
http://purl.obolibrary.org/obo/GARD_0002614 EquivalentTo 'heart-hand syndrome type 3'
http://purl.obolibrary.org/obo/MONDO_0007708
Kasabach-Merritt syndrome
http://purl.obolibrary.org/obo/GARD_0000070 EquivalentTo 'Kasabach-Merritt syndrome'
http://purl.obolibrary.org/obo/MONDO_0007714
migraine, familial hemiplegic, 1
http://purl.obolibrary.org/obo/GARD_0002638 EquivalentTo 'migraine, familial hemiplegic, 1'
http://purl.obolibrary.org/obo/MONDO_0007712
oculoauriculovertebral spectrum with radial defects
'oculoauriculovertebral spectrum with radial defects' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0003653 EquivalentTo 'oculoauriculovertebral spectrum with radial defects'
http://purl.obolibrary.org/obo/MONDO_0007710
facial hemiatrophy
http://purl.obolibrary.org/obo/GARD_0007338 EquivalentTo 'facial hemiatrophy'
http://purl.obolibrary.org/obo/MONDO_0007711
Bencze syndrome
'Bencze syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0007727
autosomal dominant familial periodic fever
http://purl.obolibrary.org/obo/GARD_0008457 EquivalentTo 'autosomal dominant familial periodic fever'
http://purl.obolibrary.org/obo/MONDO_0007726
hip dysplasia, Beukes type
http://purl.obolibrary.org/obo/GARD_0002690 EquivalentTo 'hip dysplasia, Beukes type'
http://purl.obolibrary.org/obo/MONDO_0007724
Hirsutism-skeletal dysplasia-intellectual disability syndrome
http://purl.obolibrary.org/obo/GARD_0005566 EquivalentTo 'Hirsutism-skeletal dysplasia-intellectual disability syndrome'
http://linkedlifedata.com/resource/umls/id/C0035222
http://linkedlifedata.com/resource/umls/id/C0035222 EquivalentTo 'adult respiratory distress syndrome'
http://linkedlifedata.com/resource/umls/id/C0035222 EquivalentTo 'acute respiratory distress syndrome'
http://purl.obolibrary.org/obo/MONDO_0007739
Huntington disease
http://purl.obolibrary.org/obo/GARD_0006677 EquivalentTo 'Huntington disease'
http://purl.obolibrary.org/obo/MONDO_0007732
Holt-Oram syndrome
'Holt-Oram syndrome' SubClassOf 'syndrome with limb reduction defects'
'Holt-Oram syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0006666 EquivalentTo 'Holt-Oram syndrome'
http://purl.obolibrary.org/obo/MONDO_0007740
Wagner disease
http://purl.obolibrary.org/obo/GARD_0007871 EquivalentTo 'Wagner disease'
http://purl.obolibrary.org/obo/MONDO_0007756
hyperkeratosis lenticularis perstans (disease)
http://purl.obolibrary.org/obo/GARD_0002824 EquivalentTo 'hyperkeratosis lenticularis perstans (disease)'
http://purl.obolibrary.org/obo/MONDO_0007754
HYPRPP
http://purl.obolibrary.org/obo/MESH_C563185 EquivalentTo 'HYPRPP'
http://purl.obolibrary.org/obo/MONDO_0007753
Frey syndrome
http://purl.obolibrary.org/obo/GARD_0006467 EquivalentTo 'Frey syndrome'
http://purl.obolibrary.org/obo/MONDO_0007769
hyperpigmentation of eyelid
'hyperpigmentation of eyelid' SubClassOf 'genetic skin disease'
'hyperpigmentation of eyelid' SubClassOf 'inherited genetic disease'
http://purl.obolibrary.org/obo/MONDO_0007765
hyperostosis cranialis interna (disease)
'hyperostosis cranialis interna (disease)' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0007764
autosomal dominant osteosclerosis, Worth type
http://purl.obolibrary.org/obo/GARD_0000390 EquivalentTo 'autosomal dominant osteosclerosis, Worth type'
http://purl.obolibrary.org/obo/MONDO_0007774
Hyperreflexia (disease)
'Hyperreflexia (disease)' EquivalentTo http://www.orpha.net/ORDO/Orphanet_123271
http://purl.obolibrary.org/obo/MONDO_0007787
Ambras type hypertrichosis universalis congenita
http://purl.obolibrary.org/obo/GARD_0008206 EquivalentTo 'Ambras type hypertrichosis universalis congenita'
http://purl.obolibrary.org/obo/MONDO_0007780
hypertelorism, Teebi type
http://purl.obolibrary.org/obo/GARD_0000957 EquivalentTo 'hypertelorism, Teebi type'
'hypertelorism, Teebi type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0007799
HBD
http://purl.obolibrary.org/obo/MESH_C564145 EquivalentTo 'HBD'
http://purl.obolibrary.org/obo/MONDO_0007796
hypoparathyroidism, familial isolated
http://purl.obolibrary.org/obo/GARD_0002910 EquivalentTo 'hypoparathyroidism, familial isolated'
http://purl.obolibrary.org/obo/MONDO_0007797
hypoparathyroidism-deafness-renal disease syndrome
http://purl.obolibrary.org/obo/GARD_0002911 EquivalentTo 'hypoparathyroidism-deafness-renal disease syndrome'
http://purl.obolibrary.org/obo/MONDO_0007795
mullerian duct anomalies-limb anomalies syndrome
'mullerian duct anomalies-limb anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0002908 EquivalentTo 'mullerian duct anomalies-limb anomalies syndrome'
http://purl.obolibrary.org/obo/MONDO_0007792
familial hypocalciuric hypercalcemia 2
http://purl.obolibrary.org/obo/GARD_0009758 EquivalentTo 'familial hypocalciuric hypercalcemia 2'
http://purl.obolibrary.org/obo/MONDO_0007793
hypochondroplasia
'hypochondroplasia' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0007790
Charcot-Marie-tooth disease type 3
http://purl.obolibrary.org/obo/GARD_0009204 EquivalentTo 'Charcot-Marie-tooth disease type 3'
http://purl.obolibrary.org/obo/MONDO_0007791
familial hypocalciuric hypercalcemia 1
http://purl.obolibrary.org/obo/GARD_0002796 EquivalentTo 'familial hypocalciuric hypercalcemia 1'
http://purl.obolibrary.org/obo/MONDO_0017123
arthrogryposis-renal dysfunction-cholestasis syndrome
http://purl.obolibrary.org/obo/GARD_0000794 EquivalentTo 'arthrogryposis-renal dysfunction-cholestasis syndrome'
http://purl.obolibrary.org/obo/MONDO_0017124
noma
'noma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
http://purl.obolibrary.org/obo/MONDO_0017125
oculofaciocardiodental syndrome
http://purl.obolibrary.org/obo/GARD_0004628 EquivalentTo 'oculofaciocardiodental syndrome'
http://purl.obolibrary.org/obo/MONDO_0017137
onchocerciasis
'onchocerciasis' SubClassOf 'filariasis'
'onchocerciasis' EquivalentTo 'infectious disease' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_6282)
'onchocerciasis' SubClassOf 'filariasis'
'onchocerciasis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_38539003
http://purl.obolibrary.org/obo/MONDO_0017139
oromandibular-limb hypogenesis syndrome
http://purl.obolibrary.org/obo/GARD_0004116 EquivalentTo 'oromandibular-limb hypogenesis syndrome'
http://purl.obolibrary.org/obo/MONDO_0017134
odonto-onycho dysplasia-alopecia syndrome
http://purl.obolibrary.org/obo/GARD_0004051 EquivalentTo 'odonto-onycho dysplasia-alopecia syndrome'
http://purl.obolibrary.org/obo/MONDO_0017135
olivopontocerebellar atrophy-deafness syndrome
http://purl.obolibrary.org/obo/GARD_0004070 EquivalentTo 'olivopontocerebellar atrophy-deafness syndrome'
http://purl.obolibrary.org/obo/MONDO_0017140
L1 syndrome
http://purl.obolibrary.org/obo/GARD_0012524 EquivalentTo 'L1 syndrome'
http://purl.obolibrary.org/obo/MONDO_0017160
behavioral variant of frontotemporal dementia
'behavioral variant of frontotemporal dementia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_716994006
http://purl.obolibrary.org/obo/MONDO_0017162
imperforate oropharynx-costo vetebral anomalies syndrome
http://purl.obolibrary.org/obo/GARD_0002989 EquivalentTo 'imperforate oropharynx-costo vetebral anomalies syndrome'
http://purl.obolibrary.org/obo/MONDO_0017165
bile acid CoA ligase deficiency and defective amidation
'bile acid CoA ligase deficiency and defective amidation' EquivalentTo http://purl.obolibrary.org/obo/SCTID_717047007
http://purl.obolibrary.org/obo/MONDO_0017180
10q22.3q23.3 microduplication syndrome
'10q22.3q23.3 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome X'
'10q22.3q23.3 microduplication syndrome' SubClassOf 'obsolete partial duplication of the long arm of chromosome 10'
http://purl.obolibrary.org/obo/MONDO_0017181
hypnic headache (disease)
http://purl.obolibrary.org/obo/GARD_0010796 EquivalentTo 'hypnic headache (disease)'
http://purl.obolibrary.org/obo/MONDO_0017178
osteochondritis dissecans (disease)
http://purl.obolibrary.org/obo/GARD_0004133 EquivalentTo 'osteochondritis dissecans (disease)'
http://purl.obolibrary.org/obo/MONDO_0017174
Machado-Joseph disease type 1
'Machado-Joseph disease type 1' SubClassOf 'Machado-Joseph disease'
'Machado-Joseph disease type 1' EquivalentTo http://purl.obolibrary.org/obo/SCTID_91953003
'Machado-Joseph disease type 1' SubClassOf 'Machado-Joseph disease'
http://purl.obolibrary.org/obo/MONDO_0017175
Machado-Joseph disease type 2
'Machado-Joseph disease type 2' SubClassOf 'Machado-Joseph disease'
'Machado-Joseph disease type 2' EquivalentTo http://purl.obolibrary.org/obo/SCTID_91954009
'Machado-Joseph disease type 2' SubClassOf 'Machado-Joseph disease'
http://purl.obolibrary.org/obo/MONDO_0017176
Machado-Joseph disease type 3
'Machado-Joseph disease type 3' SubClassOf 'Machado-Joseph disease'
'Machado-Joseph disease type 3' EquivalentTo http://purl.obolibrary.org/obo/SCTID_91955005
'Machado-Joseph disease type 3' SubClassOf 'Machado-Joseph disease'
http://purl.obolibrary.org/obo/MONDO_0017193
symptomatic form of Coffin-Lowry syndrome in female carriers
'symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf 'rare genetic developmental defect during embryogenesis'
'symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0017190
sporadic pheochromocytoma/secreting paraganglioma
'sporadic pheochromocytoma/secreting paraganglioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/GARD_0007385 EquivalentTo 'sporadic pheochromocytoma/secreting paraganglioma'
http://purl.obolibrary.org/obo/MONDO_0017195
Bruck syndrome
'Bruck syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0017196
osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
'osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome' SubClassOf 'inherited neurodegenerative disorder'
'osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome' SubClassOf 'rare genetic eye disease'
'osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome' SubClassOf 'rare eye disease'
'osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome' SubClassOf 'rare neurodegenerative disease'
http://purl.obolibrary.org/obo/MONDO_0017197
osteopathia striata-pigmentary dermopathy-white forelock syndrome
'osteopathia striata-pigmentary dermopathy-white forelock syndrome' SubClassOf 'rare skin disease'
http://purl.obolibrary.org/obo/GARD_0005562 EquivalentTo 'osteopathia striata-pigmentary dermopathy-white forelock syndrome'
http://purl.obolibrary.org/obo/MONDO_0017198
osteopetrosis (disease)
http://purl.obolibrary.org/obo/GARD_0004155 EquivalentTo 'osteopetrosis (disease)'
http://purl.obolibrary.org/obo/MONDO_0007606
fibrodysplasia ossificans progressiva
'fibrodysplasia ossificans progressiva' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/GARD_0006445 EquivalentTo 'fibrodysplasia ossificans progressiva'
'fibrodysplasia ossificans progressiva' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0007607
Birt-Hogg-Dube syndrome
'Birt-Hogg-Dube syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001273
http://purl.obolibrary.org/obo/GARD_0002322 EquivalentTo 'Birt-Hogg-Dube syndrome'
http://purl.obolibrary.org/obo/MONDO_0007604
femoral-facial syndrome
'femoral-facial syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0007608
desmoid disease, hereditary
'desmoid disease, hereditary' SubClassOf 'inherited soft tissue tumor'
'desmoid disease, hereditary' SubClassOf 'desmoid tumor'
'desmoid disease, hereditary' SubClassOf 'fibromatosis'
http://purl.obolibrary.org/obo/GARD_0001820 EquivalentTo 'desmoid disease, hereditary'
http://purl.obolibrary.org/obo/MONDO_0007614
congenital fibrosis of extraocular muscles
http://purl.obolibrary.org/obo/GARD_0012590 EquivalentTo 'congenital fibrosis of extraocular muscles'
http://purl.obolibrary.org/obo/MONDO_0007612
gingival fibromatosis-progressive deafness syndrome
http://purl.obolibrary.org/obo/GARD_0003056 EquivalentTo 'gingival fibromatosis-progressive deafness syndrome'
http://purl.obolibrary.org/obo/MONDO_0007619
isolated congenital adermatoglyphia
http://purl.obolibrary.org/obo/GARD_0012550 EquivalentTo 'isolated congenital adermatoglyphia'
http://purl.obolibrary.org/obo/MONDO_0007628
foveal hypoplasia 1
http://purl.obolibrary.org/obo/GARD_0000406 EquivalentTo 'foveal hypoplasia 1'
http://purl.obolibrary.org/obo/MONDO_0007627
focal facial dermal dysplasia type I
http://purl.obolibrary.org/obo/GARD_0008416 EquivalentTo 'focal facial dermal dysplasia type I'
http://purl.obolibrary.org/obo/MONDO_0007636
Frontorhiny
http://purl.obolibrary.org/obo/GARD_0012642 EquivalentTo 'Frontorhiny'
http://purl.obolibrary.org/obo/MONDO_0007648
hereditary diffuse gastric cancer
http://purl.obolibrary.org/obo/GARD_0010334 EquivalentTo 'hereditary diffuse gastric cancer'
http://purl.obolibrary.org/obo/MONDO_0007646
Gamstorp-Wohlfart syndrome
http://purl.obolibrary.org/obo/GARD_0012353 EquivalentTo 'Gamstorp-Wohlfart syndrome'
http://purl.obolibrary.org/obo/MONDO_0007644
IgAD1
'IgAD1' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C123434
http://purl.obolibrary.org/obo/MONDO_0007640
Sorsby's fundus dystrophy
http://purl.obolibrary.org/obo/GARD_0010511 EquivalentTo 'Sorsby's fundus dystrophy'
http://purl.obolibrary.org/obo/MONDO_0007658
Spitz nevus
http://purl.obolibrary.org/obo/GARD_0010412 EquivalentTo 'Spitz nevus'
http://purl.obolibrary.org/obo/MONDO_0007655
fissured tongue
http://purl.obolibrary.org/obo/GARD_0006493 EquivalentTo 'fissured tongue'
http://purl.obolibrary.org/obo/MONDO_0007656
Gerstmann-Straussler-Scheinker syndrome
http://purl.obolibrary.org/obo/GARD_0007690 EquivalentTo 'Gerstmann-Straussler-Scheinker syndrome'
http://purl.obolibrary.org/obo/MONDO_0007652
gastric mucosal hypertrophy
http://purl.obolibrary.org/obo/GARD_0002436 EquivalentTo 'gastric mucosal hypertrophy'
http://purl.obolibrary.org/obo/MONDO_0007650
MALT lymphoma
http://purl.obolibrary.org/obo/GARD_0006485 EquivalentTo 'MALT lymphoma'
http://purl.obolibrary.org/obo/MONDO_0007667
subependymoma
http://purl.obolibrary.org/obo/GARD_0010070 EquivalentTo 'subependymoma'
http://purl.obolibrary.org/obo/MONDO_0007664
glaucoma 1, open angle, a
http://purl.obolibrary.org/obo/GARD_0009485 EquivalentTo 'glaucoma 1, open angle, a'
http://purl.obolibrary.org/obo/MONDO_0007662
anterior segment dysgenesis 4
http://purl.obolibrary.org/obo/GARD_0003026 EquivalentTo 'anterior segment dysgenesis 4'
http://purl.obolibrary.org/obo/MONDO_0007660
familial ossifying fibroma
http://purl.obolibrary.org/obo/GARD_0010887 EquivalentTo 'familial ossifying fibroma'
http://purl.obolibrary.org/obo/MONDO_0007661
Tourette syndrome
'Tourette syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_5158005
http://purl.obolibrary.org/obo/MONDO_0007672
glomuvenous malformation
'glomuvenous malformation' SubClassOf 'rare genetic epilepsy'
'glomuvenous malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0007670
hypotrichosis-lymphedema-telangiectasia syndrome (grouping)
http://purl.obolibrary.org/obo/GARD_0012827 EquivalentTo 'hypotrichosis-lymphedema-telangiectasia syndrome (grouping)'
http://purl.obolibrary.org/obo/MONDO_0007688
Myhre syndrome
'Myhre syndrome' SubClassOf 'acromelic dysplasia'
http://purl.obolibrary.org/obo/MONDO_0007680
multinodular goiter-cystic kidney-polydactyly syndrome
'multinodular goiter-cystic kidney-polydactyly syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/GARD_0001671 EquivalentTo 'multinodular goiter-cystic kidney-polydactyly syndrome'
'multinodular goiter-cystic kidney-polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0017009
partial duplication of the short arm of chromosome X
'partial duplication of the short arm of chromosome X' EquivalentTo http://www.orpha.net/ORDO/Orphanet_262776
'partial duplication of the short arm of chromosome X' SubClassOf 'partial duplication of chromosome X'
'partial duplication of the short arm of chromosome X' SubClassOf 'partial duplication of chromosome X'
http://purl.obolibrary.org/obo/GARD_0012421 EquivalentTo 'partial duplication of the short arm of chromosome X'
http://purl.obolibrary.org/obo/MONDO_0017008
partial duplication of chromosome X
'partial duplication of chromosome X' EquivalentTo http://www.orpha.net/ORDO/Orphanet_262648
'partial duplication of chromosome X' SubClassOf 'partial autosomal trisomy/tetrasomy'
http://purl.obolibrary.org/obo/MONDO_0017003
partial deletion of chromosome X
'partial deletion of chromosome X' SubClassOf 'partial autosomal monosomy'
'partial deletion of chromosome X' EquivalentTo http://www.orpha.net/ORDO/Orphanet_261811
http://purl.obolibrary.org/obo/MONDO_0007698
hand-foot-genital syndrome
'hand-foot-genital syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0002594 EquivalentTo 'hand-foot-genital syndrome'
http://purl.obolibrary.org/obo/MONDO_0007696
Emery-Nelson syndrome
http://purl.obolibrary.org/obo/GARD_0002593 EquivalentTo 'Emery-Nelson syndrome'
http://purl.obolibrary.org/obo/MONDO_0007693
hypertrichosis cubiti-short stature syndrome
http://purl.obolibrary.org/obo/GARD_0000143 EquivalentTo 'hypertrichosis cubiti-short stature syndrome'
http://purl.obolibrary.org/obo/MONDO_0007694
hairy nose tip
'hairy nose tip' EquivalentTo http://www.orpha.net/ORDO/Orphanet_458274
http://purl.obolibrary.org/obo/MONDO_0007691
chronic inflammatory demyelinating polyneuropathy
http://purl.obolibrary.org/obo/GARD_0006102 EquivalentTo 'chronic inflammatory demyelinating polyneuropathy'
http://purl.obolibrary.org/obo/MONDO_0017014
interstitial lung disease specific to childhood
'interstitial lung disease specific to childhood' EquivalentTo 'interstitial lung disease' and ('has modifier' some http://purl.obolibrary.org/obo/HP_0011463)
'interstitial lung disease specific to childhood' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/HP_0011463
http://purl.obolibrary.org/obo/MONDO_0017010
partial duplication of the long arm of chromosome X
'partial duplication of the long arm of chromosome X' EquivalentTo http://www.orpha.net/ORDO/Orphanet_262914
http://purl.obolibrary.org/obo/MESH_C536732 EquivalentTo 'partial duplication of the long arm of chromosome X'
http://purl.obolibrary.org/obo/GARD_0005369 EquivalentTo 'partial duplication of the long arm of chromosome X'
http://purl.obolibrary.org/obo/MONDO_0017025
Langerhans cell histiocytosis specific to childhood
'Langerhans cell histiocytosis specific to childhood' SubClassOf 'childhood neoplasm'
http://purl.obolibrary.org/obo/MONDO_0017048
pseudomyxoma peritonei
'pseudomyxoma peritonei' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0007456
http://purl.obolibrary.org/obo/GARD_0002448 EquivalentTo 'pseudomyxoma peritonei'
http://purl.obolibrary.org/obo/GARD_0007488 EquivalentTo 'pseudomyxoma peritonei'
http://purl.obolibrary.org/obo/MONDO_0017042
thanatophoric dysplasia
http://purl.obolibrary.org/obo/GARD_0000085 EquivalentTo 'thanatophoric dysplasia'
'thanatophoric dysplasia' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0017059
neural tube closure defect
'neural tube closure defect' SubClassOf 'disease caused by disruption of' some http://purl.obolibrary.org/obo/GO_0001843
'neural tube closure defect' EquivalentTo 'disease' and ('disease caused by disruption of' some http://purl.obolibrary.org/obo/GO_0001843)
http://purl.obolibrary.org/obo/MONDO_0017078
Cephalocele (disease)
'Cephalocele (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84687
http://purl.obolibrary.org/obo/MONDO_0017079
cranial meningocele
'cranial meningocele' EquivalentTo http://purl.obolibrary.org/obo/SCTID_36010004
'cranial meningocele' EquivalentTo http://purl.obolibrary.org/obo/SCTID_52330001
'cranial meningocele' EquivalentTo 'Cephalocele (disease)' and ('disease has location' some http://purl.obolibrary.org/obo/UBERON_0003547)
http://purl.obolibrary.org/obo/GARD_0003473 EquivalentTo 'cranial meningocele'
'cranial meningocele' SubClassOf 'disease has location' some http://purl.obolibrary.org/obo/UBERON_0003547
'cranial meningocele' SubClassOf 'brain disease'
http://purl.obolibrary.org/obo/MONDO_0017094
cerebral cortical dysplasia
'cerebral cortical dysplasia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C42088
http://purl.obolibrary.org/obo/MONDO_0017086
primary tethered cord syndrome
http://purl.obolibrary.org/obo/GARD_0004018 EquivalentTo 'primary tethered cord syndrome'
http://purl.obolibrary.org/obo/MONDO_0007508
Rapp-Hodgkin syndrome
'Rapp-Hodgkin syndrome' SubClassOf 'orofacial cleft'
http://purl.obolibrary.org/obo/MESH_C535289 EquivalentTo 'Rapp-Hodgkin syndrome'
'Rapp-Hodgkin syndrome' SubClassOf 'cleft palate'
'Rapp-Hodgkin syndrome' SubClassOf 'cleft lip (disease)'
http://purl.obolibrary.org/obo/MONDO_0007506
E11S
'E11S' SubClassOf 'inherited genetic disease'
'E11S' SubClassOf 'congenital enterovirus infection'
'E11S' SubClassOf 'rare genetic developmental defect during embryogenesis'
'E11S' SubClassOf 'echovirus infectious disease'
http://purl.obolibrary.org/obo/MESH_C565071 EquivalentTo 'E11S'
'E11S' SubClassOf 'genetic predisposition to disease'
http://purl.obolibrary.org/obo/MONDO_0007504
thickened earlobes-conductive deafness syndrome
http://purl.obolibrary.org/obo/GARD_0002195 EquivalentTo 'thickened earlobes-conductive deafness syndrome'
http://purl.obolibrary.org/obo/MONDO_0007509
ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
http://purl.obolibrary.org/obo/GARD_0002048 EquivalentTo 'ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant'
http://purl.obolibrary.org/obo/MONDO_0007519
Edinburgh malformation syndrome
'Edinburgh malformation syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'Edinburgh malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043009
http://purl.obolibrary.org/obo/MONDO_0007517
ectrodactyly-cleft palate syndrome
'ectrodactyly-cleft palate syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_1889
http://purl.obolibrary.org/obo/MONDO_0007515
ectopia pupillae (disease)
http://purl.obolibrary.org/obo/GARD_0008490 EquivalentTo 'ectopia pupillae (disease)'
http://purl.obolibrary.org/obo/MONDO_0007510
Clouston syndrome
http://purl.obolibrary.org/obo/GARD_0002056 EquivalentTo 'Clouston syndrome'
http://purl.obolibrary.org/obo/GARD_0004253 EquivalentTo 'Clouston syndrome'
http://purl.obolibrary.org/obo/MONDO_0007527
Ehlers-Danlos syndrome, periodontitis type
http://purl.obolibrary.org/obo/GARD_0012474 EquivalentTo 'Ehlers-Danlos syndrome, periodontitis type'
http://purl.obolibrary.org/obo/MONDO_0007526
Ehlers-Danlos syndrome progeroid type
http://purl.obolibrary.org/obo/GARD_0009991 EquivalentTo 'Ehlers-Danlos syndrome progeroid type'
http://purl.obolibrary.org/obo/MONDO_0007523
type III Ehlers-Danlos syndrome
http://purl.obolibrary.org/obo/GARD_0002081 EquivalentTo 'type III Ehlers-Danlos syndrome'
http://purl.obolibrary.org/obo/MONDO_0007522
Ehlers-Danlos syndrome, classic type
http://purl.obolibrary.org/obo/GARD_0002088 EquivalentTo 'Ehlers-Danlos syndrome, classic type'
http://purl.obolibrary.org/obo/MONDO_0007539
encephalopathy, recurrent, of childhood
http://purl.obolibrary.org/obo/GARD_0003949 EquivalentTo 'encephalopathy, recurrent, of childhood'
http://purl.obolibrary.org/obo/MONDO_0007536
congenital lobar emphysema
http://purl.obolibrary.org/obo/GARD_0002104 EquivalentTo 'congenital lobar emphysema'
'congenital lobar emphysema' EquivalentTo http://purl.obolibrary.org/obo/SCTID_66987001
http://purl.obolibrary.org/obo/MONDO_0007537
lateral meningocele syndrome
http://purl.obolibrary.org/obo/GARD_0009873 EquivalentTo 'lateral meningocele syndrome'
http://purl.obolibrary.org/obo/MONDO_0007535
emphysema, hereditary pulmonary
http://purl.obolibrary.org/obo/MESH_C565057 EquivalentTo 'emphysema, hereditary pulmonary'
http://purl.obolibrary.org/obo/MONDO_0007549
generalized dominant dystrophic epidermolysis bullosa
http://purl.obolibrary.org/obo/GARD_0002139 EquivalentTo 'generalized dominant dystrophic epidermolysis bullosa'
http://purl.obolibrary.org/obo/MONDO_0007547
epidermoid cysts
'epidermoid cysts' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3134
'epidermoid cysts' EquivalentTo http://purl.obolibrary.org/obo/SCTID_419893006
http://purl.obolibrary.org/obo/MONDO_0007546
myeloproliferative disorder, chronic, with eosinophilia
http://purl.obolibrary.org/obo/MESH_C565054 EquivalentTo 'myeloproliferative disorder, chronic, with eosinophilia'
http://purl.obolibrary.org/obo/MONDO_0007542
Camurati-Engelmann disease
http://purl.obolibrary.org/obo/GARD_0001072 EquivalentTo 'Camurati-Engelmann disease'
http://purl.obolibrary.org/obo/MONDO_0007554
generalized epidermolysis bullosa simplex, non-Dowling-Meara type
http://purl.obolibrary.org/obo/GARD_0002147 EquivalentTo 'generalized epidermolysis bullosa simplex, non-Dowling-Meara type'
http://purl.obolibrary.org/obo/MONDO_0007552
pretibial dystrophic epidermolysis bullosa
http://purl.obolibrary.org/obo/GARD_0002155 EquivalentTo 'pretibial dystrophic epidermolysis bullosa'
http://purl.obolibrary.org/obo/MONDO_0007565
familial cylindromatosis
http://purl.obolibrary.org/obo/GARD_0009707 EquivalentTo 'familial cylindromatosis'
http://purl.obolibrary.org/obo/MONDO_0007566
multiple self-healing squamous epithelioma
http://purl.obolibrary.org/obo/MESH_C536150 EquivalentTo 'multiple self-healing squamous epithelioma'
http://purl.obolibrary.org/obo/MONDO_0007562
multiple epiphyseal dysplasia, Beighton type
'multiple epiphyseal dysplasia, Beighton type' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MESH_C565046 EquivalentTo 'multiple epiphyseal dysplasia, Beighton type'
http://purl.obolibrary.org/obo/MONDO_0007576
esophageal cancer
http://purl.obolibrary.org/obo/GARD_0006383 EquivalentTo 'esophageal cancer'
http://purl.obolibrary.org/obo/MONDO_0007574
spinocerebellar ataxia type 34
http://purl.obolibrary.org/obo/GARD_0000059 EquivalentTo 'spinocerebellar ataxia type 34'
http://purl.obolibrary.org/obo/MONDO_0007571
primary erythermalgia
http://purl.obolibrary.org/obo/GARD_0006377 EquivalentTo 'primary erythermalgia'
http://purl.obolibrary.org/obo/MONDO_0007587
external auditory canal atresia-vertical talus-hypertelorism syndrome
'external auditory canal atresia-vertical talus-hypertelorism syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0004638 EquivalentTo 'external auditory canal atresia-vertical talus-hypertelorism syndrome'
http://purl.obolibrary.org/obo/MONDO_0007588
extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
'extrasystoles-short stature-hyperpigmentation-microcephaly syndrome' SubClassOf 'rare genetic skin disease'
http://purl.obolibrary.org/obo/MONDO_0007586
exostoses, multiple, type 2
'exostoses, multiple, type 2' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C18252
http://purl.obolibrary.org/obo/SCTID_233763009
'silicosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_233763009
http://purl.obolibrary.org/obo/MONDO_0007409
cryptomicrotia-brachydactyly-excess fingertip arch syndrome
'cryptomicrotia-brachydactyly-excess fingertip arch syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'cryptomicrotia-brachydactyly-excess fingertip arch syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0008174 EquivalentTo 'cryptomicrotia-brachydactyly-excess fingertip arch syndrome'
http://purl.obolibrary.org/obo/MONDO_0007407
Cryoglobulinemic vasculitis
http://purl.obolibrary.org/obo/GARD_0006386 EquivalentTo 'Cryoglobulinemic vasculitis'
'Cryoglobulinemic vasculitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0007404
Cri-du-chat syndrome
http://purl.obolibrary.org/obo/GARD_0006213 EquivalentTo 'Cri-du-chat syndrome'
http://purl.obolibrary.org/obo/MONDO_0007401
craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
http://purl.obolibrary.org/obo/MESH_C563973 EquivalentTo 'craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome'
http://purl.obolibrary.org/obo/GARD_0000998 EquivalentTo 'craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome'
http://purl.obolibrary.org/obo/MONDO_0007417
Darier disease
http://purl.obolibrary.org/obo/GARD_0006243 EquivalentTo 'Darier disease'
http://purl.obolibrary.org/obo/MONDO_0007415
mitochondrial complex III deficiency nuclear type 1
'mitochondrial complex III deficiency nuclear type 1' SubClassOf 'mitochondrial complex deficiency'
http://purl.obolibrary.org/obo/MONDO_0007416
Balkan nephropathy
http://purl.obolibrary.org/obo/GARD_0008576 EquivalentTo 'Balkan nephropathy'
http://purl.obolibrary.org/obo/MONDO_0007413
Cyprus facial-neuromusculoskeletal syndrome
'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0007414
Gorham-Stout disease
http://purl.obolibrary.org/obo/GARD_0006542 EquivalentTo 'Gorham-Stout disease'
http://purl.obolibrary.org/obo/MONDO_0007412
Beare-Stevenson cutis gyrata syndrome
'Beare-Stevenson cutis gyrata syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0007428
deafness-craniofacial syndrome
'deafness-craniofacial syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0007429
optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
http://purl.obolibrary.org/obo/GARD_0009897 EquivalentTo 'optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy'
http://purl.obolibrary.org/obo/MONDO_0007422
keratoderma hereditarium mutilans
http://purl.obolibrary.org/obo/GARD_0003092 EquivalentTo 'keratoderma hereditarium mutilans'
http://purl.obolibrary.org/obo/MONDO_0007437
dentin dysplasia type II
http://purl.obolibrary.org/obo/GARD_0001806 EquivalentTo 'dentin dysplasia type II'
http://purl.obolibrary.org/obo/MONDO_0007438
dentin dysplasia-sclerotic bones syndrome
http://purl.obolibrary.org/obo/GARD_0001808 EquivalentTo 'dentin dysplasia-sclerotic bones syndrome'
http://purl.obolibrary.org/obo/MONDO_0007436
dentin dysplasia type I
http://purl.obolibrary.org/obo/MESH_C531665 EquivalentTo 'dentin dysplasia type I'
http://purl.obolibrary.org/obo/MONDO_0007431
dens 1N dente and palatal invaginations
http://purl.obolibrary.org/obo/GARD_0010069 EquivalentTo 'dens 1N dente and palatal invaginations'
http://purl.obolibrary.org/obo/MONDO_0007432
CADASIL
http://purl.obolibrary.org/obo/GARD_0001049 EquivalentTo 'CADASIL'
http://purl.obolibrary.org/obo/MONDO_0007449
dermo-odonto dysplasia
http://purl.obolibrary.org/obo/GARD_0001816 EquivalentTo 'dermo-odonto dysplasia'
http://purl.obolibrary.org/obo/MONDO_0007441
dentinogenesis imperfecta type 2
http://purl.obolibrary.org/obo/GARD_0012796 EquivalentTo 'dentinogenesis imperfecta type 2'
http://purl.obolibrary.org/obo/MONDO_0007459
dilution, pigmentary
http://purl.obolibrary.org/obo/GARD_0006731 EquivalentTo 'dilution, pigmentary'
http://purl.obolibrary.org/obo/MONDO_0007461
short stature-valvular heart disease-characteristic facies syndrome
'short stature-valvular heart disease-characteristic facies syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'short stature-valvular heart disease-characteristic facies syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0007477
3-M syndrome
'3-M syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0005667 EquivalentTo '3-M syndrome'
http://purl.obolibrary.org/obo/MESH_C535314 EquivalentTo '3-M syndrome'
'3-M syndrome' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0007478
autosomal dominant Kenny-Caffey syndrome
'autosomal dominant Kenny-Caffey syndrome' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0007480
dwarfism with stiff joints and ocular abnormalities
'dwarfism with stiff joints and ocular abnormalities' EquivalentTo http://www.orpha.net/ORDO/Orphanet_2569
http://purl.obolibrary.org/obo/MONDO_0007488
Lewy body dementia
'Lewy body dementia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0006792
http://purl.obolibrary.org/obo/MONDO_0007484
dyschromatosis universalis
'dyschromatosis universalis' SubClassOf 'hyperpigmentation of the skin'
'dyschromatosis universalis' SubClassOf 'dyschromatosis universalis hereditaria'
'dyschromatosis universalis' EquivalentTo http://www.orpha.net/ORDO/Orphanet_241
http://linkedlifedata.com/resource/umls/id/C1306229 EquivalentTo 'dyschromatosis universalis'
'dyschromatosis universalis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_239082002
http://purl.obolibrary.org/obo/MONDO_0007485
dyskeratosis congenita, autosomal dominant 1
'dyskeratosis congenita, autosomal dominant 1' EquivalentTo http://purl.obolibrary.org/obo/SCTID_707273001
http://purl.obolibrary.org/obo/MONDO_0007483
dyschromatosis symmetrica hereditaria
http://purl.obolibrary.org/obo/GARD_0000334 EquivalentTo 'dyschromatosis symmetrica hereditaria'
'dyschromatosis symmetrica hereditaria' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008878
http://purl.obolibrary.org/obo/MONDO_0007495
dystonia 5
http://purl.obolibrary.org/obo/GARD_0012144 EquivalentTo 'dystonia 5'
http://purl.obolibrary.org/obo/MONDO_0007496
dystonia 12
http://purl.obolibrary.org/obo/MESH_C538001 EquivalentTo 'dystonia 12'
http://purl.obolibrary.org/obo/GARD_0009628 EquivalentTo 'dystonia 12'
http://purl.obolibrary.org/obo/MONDO_0007493
torsion dystonia 4
http://purl.obolibrary.org/obo/GARD_0010138 EquivalentTo 'torsion dystonia 4'
http://purl.obolibrary.org/obo/MONDO_0007494
episodic kinesigenic dyskinesia 1
http://purl.obolibrary.org/obo/GARD_0008721 EquivalentTo 'episodic kinesigenic dyskinesia 1'
http://purl.obolibrary.org/obo/SCTID_46956008
'vasculitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_46956008
http://purl.obolibrary.org/obo/DOID_10123
http://purl.obolibrary.org/obo/DOID_10123 EquivalentTo 'pigmentation disease'
http://purl.obolibrary.org/obo/DOID_10123 EquivalentTo 'pigmentation anomaly of the skin'
http://purl.obolibrary.org/obo/MONDO_0022916
cystic hygroma lethal cleft palate
'cystic hygroma lethal cleft palate' SubClassOf 'disease has feature' some 'cystic hygroma'
'cystic hygroma lethal cleft palate' SubClassOf 'disease has feature' some 'cleft palate'
http://purl.obolibrary.org/obo/MONDO_0022930
dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia
http://purl.obolibrary.org/obo/MESH_C538340 EquivalentTo 'dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia'
http://purl.obolibrary.org/obo/MONDO_0007307
Charcot-Marie-tooth disease type 1B
http://purl.obolibrary.org/obo/GARD_0001246 EquivalentTo 'Charcot-Marie-tooth disease type 1B'
http://purl.obolibrary.org/obo/MONDO_0007308
Charcot-Marie-tooth disease type 2A1
'Charcot-Marie-tooth disease type 2A1' EquivalentTo http://purl.obolibrary.org/obo/SCTID_717016001
http://purl.obolibrary.org/obo/MONDO_0007301
cerebrocostomandibular syndrome
http://purl.obolibrary.org/obo/GARD_0006026 EquivalentTo 'cerebrocostomandibular syndrome'
'cerebrocostomandibular syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0007318
Alagille syndrome
'Alagille syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0000804 EquivalentTo 'Alagille syndrome'
http://purl.obolibrary.org/obo/MONDO_0007319
familial calcium pyrophosphate deposition
http://purl.obolibrary.org/obo/GARD_0001292 EquivalentTo 'familial calcium pyrophosphate deposition'
http://purl.obolibrary.org/obo/MONDO_0007314
chemodectoma, Intraabdominal, with cutaneous angiolipomas
http://purl.obolibrary.org/obo/GARD_0001265 EquivalentTo 'chemodectoma, Intraabdominal, with cutaneous angiolipomas'
http://purl.obolibrary.org/obo/MONDO_0007315
cherubism
'cherubism' SubClassOf 'rare genetic bone disease'
'cherubism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
'cherubism' SubClassOf 'unclassified autoinflammatory syndrome'
http://purl.obolibrary.org/obo/MONDO_0007311
Charcot-Marie-tooth disease type 1E
http://purl.obolibrary.org/obo/GARD_0009190 EquivalentTo 'Charcot-Marie-tooth disease type 1E'
http://purl.obolibrary.org/obo/MONDO_0007329
cirrhosis, familial
'cirrhosis, familial' EquivalentTo http://purl.obolibrary.org/obo/SCTID_6183001
'cirrhosis, familial' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84411
http://purl.obolibrary.org/obo/MONDO_0007326
paroxysmal nonkinesigenic dyskinesia 1
http://purl.obolibrary.org/obo/GARD_0008722 EquivalentTo 'paroxysmal nonkinesigenic dyskinesia 1'
http://purl.obolibrary.org/obo/MONDO_0007321
autosomal dominant chondrodysplasia punctata
'autosomal dominant chondrodysplasia punctata' SubClassOf 'rare genetic developmental defect during embryogenesis'
'autosomal dominant chondrodysplasia punctata' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0007339
blepharo-cheilo-odontic syndrome
'blepharo-cheilo-odontic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0022972
diabetic mastopathy
http://purl.obolibrary.org/obo/MESH_C537524 EquivalentTo 'diabetic mastopathy'
http://purl.obolibrary.org/obo/MONDO_0007337
cleft palate-lateral synechia syndrome
'cleft palate-lateral synechia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0007334
autosomal dominant popliteal pterygium syndrome
http://purl.obolibrary.org/obo/GARD_0003242 EquivalentTo 'autosomal dominant popliteal pterygium syndrome'
'autosomal dominant popliteal pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0007335
OFC1
'OFC1' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C124838
http://purl.obolibrary.org/obo/MONDO_0007345
aorta coarctation
'aorta coarctation' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001267
http://purl.obolibrary.org/obo/GARD_0005828 EquivalentTo 'aorta coarctation'
http://purl.obolibrary.org/obo/MONDO_0007346
cochleosaccular degeneration-cataract syndrome
'cochleosaccular degeneration-cataract syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_715528001
http://purl.obolibrary.org/obo/MONDO_0007340
cleidocranial dysplasia
http://purl.obolibrary.org/obo/GARD_0006118 EquivalentTo 'cleidocranial dysplasia'
http://purl.obolibrary.org/obo/MONDO_0022993
dipsogenic diabetes insipidus
'dipsogenic diabetes insipidus' EquivalentTo 'diabetes insipidus' and ('disease arises from feature' some http://purl.obolibrary.org/obo/HP_0001959)
'dipsogenic diabetes insipidus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0040870
'dipsogenic diabetes insipidus' SubClassOf 'disease arises from feature' some http://purl.obolibrary.org/obo/HP_0001959
http://purl.obolibrary.org/obo/MONDO_0007354
coloboma of optic nerve (disease)
http://purl.obolibrary.org/obo/GARD_0008502 EquivalentTo 'coloboma of optic nerve (disease)'
http://purl.obolibrary.org/obo/MONDO_0007355
uveal coloboma-cleft lip and palate-intellectual disability
http://purl.obolibrary.org/obo/GARD_0001440 EquivalentTo 'uveal coloboma-cleft lip and palate-intellectual disability'
http://purl.obolibrary.org/obo/MONDO_0007353
coloboma of macula-brachydactyly type B syndrome
http://purl.obolibrary.org/obo/GARD_0001437 EquivalentTo 'coloboma of macula-brachydactyly type B syndrome'
http://purl.obolibrary.org/obo/MONDO_0007351
coloboma of macula
http://purl.obolibrary.org/obo/GARD_0001436 EquivalentTo 'coloboma of macula'
http://purl.obolibrary.org/obo/MONDO_0007369
hereditary coproporphyria
'hereditary coproporphyria' SubClassOf 'hepatic porphyria'
'hereditary coproporphyria' SubClassOf 'hepatic porphyria'
http://purl.obolibrary.org/obo/MONDO_0007367
FEB1
http://purl.obolibrary.org/obo/MESH_C565162 EquivalentTo 'FEB1'
http://purl.obolibrary.org/obo/MONDO_0007363
congenital contractural arachnodactyly
http://purl.obolibrary.org/obo/GARD_0005899 EquivalentTo 'congenital contractural arachnodactyly'
http://purl.obolibrary.org/obo/MONDO_0007362
cone-rod dystrophy 2
http://purl.obolibrary.org/obo/GARD_0006145 EquivalentTo 'cone-rod dystrophy 2'
http://purl.obolibrary.org/obo/MONDO_0007371
cornea guttata with anterior polar cataracts
http://purl.obolibrary.org/obo/GARD_0009507 EquivalentTo 'cornea guttata with anterior polar cataracts'
http://purl.obolibrary.org/obo/MONDO_0007379
Meesmann corneal dystrophy
'Meesmann corneal dystrophy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_1674008
http://purl.obolibrary.org/obo/MONDO_0007377
granular corneal dystrophy type i
http://purl.obolibrary.org/obo/GARD_0009677 EquivalentTo 'granular corneal dystrophy type i'
http://purl.obolibrary.org/obo/MONDO_0007374
Schnyder corneal dystrophy
http://purl.obolibrary.org/obo/GARD_0009277 EquivalentTo 'Schnyder corneal dystrophy'
http://purl.obolibrary.org/obo/MONDO_0007375
epithelial basement membrane dystrophy
http://purl.obolibrary.org/obo/GARD_0009732 EquivalentTo 'epithelial basement membrane dystrophy'
http://purl.obolibrary.org/obo/MONDO_0007372
CNA1
http://purl.obolibrary.org/obo/MESH_C565158 EquivalentTo 'CNA1'
http://purl.obolibrary.org/obo/MONDO_0007382
Ramos-Arroyo syndrome
http://purl.obolibrary.org/obo/GARD_0004636 EquivalentTo 'Ramos-Arroyo syndrome'
http://purl.obolibrary.org/obo/MONDO_0007380
lattice corneal dystrophy type I
http://purl.obolibrary.org/obo/GARD_0009678 EquivalentTo 'lattice corneal dystrophy type I'
http://purl.obolibrary.org/obo/MONDO_0007389
spondylocostal dysostosis 5
http://purl.obolibrary.org/obo/GARD_0012806 EquivalentTo 'spondylocostal dysostosis 5'
http://purl.obolibrary.org/obo/MONDO_0007383
Stern-Lubinsky-Durrie syndrome
http://purl.obolibrary.org/obo/GARD_0001531 EquivalentTo 'Stern-Lubinsky-Durrie syndrome'
http://purl.obolibrary.org/obo/MONDO_0007384
congenital trigeminal anesthesia
http://purl.obolibrary.org/obo/GARD_0010034 EquivalentTo 'congenital trigeminal anesthesia'
http://purl.obolibrary.org/obo/MONDO_0007393
cranioacrofacial syndrome
'cranioacrofacial syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_1339
http://purl.obolibrary.org/obo/MONDO_0007391
coxa vara (disease)
'coxa vara (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001298
http://purl.obolibrary.org/obo/GARD_0008750 EquivalentTo 'coxa vara (disease)'
http://purl.obolibrary.org/obo/MONDO_0007396
dysostosis, Stanescu type
http://purl.obolibrary.org/obo/GARD_0002016 EquivalentTo 'dysostosis, Stanescu type'
http://purl.obolibrary.org/obo/MONDO_0007397
craniometaphyseal dysplasia, autosomal dominant
http://purl.obolibrary.org/obo/GARD_0001581 EquivalentTo 'craniometaphyseal dysplasia, autosomal dominant'
http://purl.obolibrary.org/obo/MONDO_0007395
craniofacial-deafness-hand syndrome
'craniofacial-deafness-hand syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0013007
combined immunodeficiency due to ORAI1 deficiency
http://purl.obolibrary.org/obo/GARD_0010524 EquivalentTo 'combined immunodeficiency due to ORAI1 deficiency'
http://purl.obolibrary.org/obo/MONDO_0013008
combined immunodeficiency due to STIM1 deficiency
http://purl.obolibrary.org/obo/GARD_0010523 EquivalentTo 'combined immunodeficiency due to STIM1 deficiency'
http://purl.obolibrary.org/obo/MONDO_0013005
EAST syndrome
http://purl.obolibrary.org/obo/GARD_0010514 EquivalentTo 'EAST syndrome'
http://purl.obolibrary.org/obo/MONDO_0013000
porphyria due to ALA dehydratase deficiency
http://purl.obolibrary.org/obo/MESH_C562618 EquivalentTo 'porphyria due to ALA dehydratase deficiency'
http://purl.obolibrary.org/obo/MONDO_0003699
phobic disorder
'phobic disorder' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001908
'phobic disorder' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35420
http://purl.obolibrary.org/obo/MONDO_0003697
non-invasive verrucous carcinoma of the penis
'non-invasive verrucous carcinoma of the penis' SubClassOf 'cervical verrucous carcinoma'
http://purl.obolibrary.org/obo/MONDO_0013014
spondyloepimetaphyseal dysplasia, aggrecan type
'spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0013019
spondyloepimetaphyseal dysplasia, Pakistani type
'spondyloepimetaphyseal dysplasia, Pakistani type' EquivalentTo http://purl.obolibrary.org/obo/SCTID_719172003
http://purl.obolibrary.org/obo/MONDO_0013016
leukocyte adhesion deficiency 3
'leukocyte adhesion deficiency 3' SubClassOf 'rare genetic bone disease'
'leukocyte adhesion deficiency 3' SubClassOf 'rare genetic developmental defect during embryogenesis'
'leukocyte adhesion deficiency 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042973
http://purl.obolibrary.org/obo/MONDO_0013025
chromosome 6q24-q25 deletion syndrome
'chromosome 6q24-q25 deletion syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C36470
http://purl.obolibrary.org/obo/GARD_0003764 EquivalentTo 'chromosome 6q24-q25 deletion syndrome'
http://purl.obolibrary.org/obo/MONDO_0013023
OFC12
http://purl.obolibrary.org/obo/MESH_C567548 EquivalentTo 'OFC12'
http://purl.obolibrary.org/obo/MONDO_0013029
cerebellar ataxia type 9
http://purl.obolibrary.org/obo/GARD_0010481 EquivalentTo 'cerebellar ataxia type 9'
http://purl.obolibrary.org/obo/MONDO_0013021
sterile multifocal osteomyelitis with periostitis and pustulosis
http://purl.obolibrary.org/obo/GARD_0010516 EquivalentTo 'sterile multifocal osteomyelitis with periostitis and pustulosis'
http://purl.obolibrary.org/obo/MONDO_0013038
CLOVES syndrome
http://purl.obolibrary.org/obo/GARD_0010939 EquivalentTo 'CLOVES syndrome'
http://purl.obolibrary.org/obo/MONDO_0013046
glycogen storage disease due to muscle beta-enolase deficiency
http://purl.obolibrary.org/obo/GARD_0002125 EquivalentTo 'glycogen storage disease due to muscle beta-enolase deficiency'
http://purl.obolibrary.org/obo/MONDO_0013049
DPM3-CDG
http://purl.obolibrary.org/obo/GARD_0012395 EquivalentTo 'DPM3-CDG'
http://purl.obolibrary.org/obo/MONDO_0013058
cystic leukoencephalopathy without megalencephaly
http://purl.obolibrary.org/obo/GARD_0013199 EquivalentTo 'cystic leukoencephalopathy without megalencephaly'
http://purl.obolibrary.org/obo/MONDO_0013059
Aicardi-Goutieres syndrome 5
http://purl.obolibrary.org/obo/GARD_0010151 EquivalentTo 'Aicardi-Goutieres syndrome 5'
http://purl.obolibrary.org/obo/MONDO_0013050
lethal polymalformative syndrome, Boissel type
'lethal polymalformative syndrome, Boissel type' SubClassOf 'rare genetic developmental defect during embryogenesis'
'lethal polymalformative syndrome, Boissel type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043009
http://purl.obolibrary.org/obo/MESH_C567856 EquivalentTo 'lethal polymalformative syndrome, Boissel type'
http://purl.obolibrary.org/obo/MONDO_0013053
microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
'microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0013069
autosomal recessive optic atrophy, OPA7 type
'autosomal recessive optic atrophy, OPA7 type' SubClassOf 'inherited neurodegenerative disorder'
'autosomal recessive optic atrophy, OPA7 type' SubClassOf 'optic atrophy'
'autosomal recessive optic atrophy, OPA7 type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043878
http://purl.obolibrary.org/obo/MESH_C567833 EquivalentTo 'autosomal recessive optic atrophy, OPA7 type'
http://purl.obolibrary.org/obo/MONDO_0013060
autosomal recessive Parkinson disease 14
http://purl.obolibrary.org/obo/GARD_0012568 EquivalentTo 'autosomal recessive Parkinson disease 14'
http://purl.obolibrary.org/obo/MONDO_0013080
primary biliary cholangitis 3
http://purl.obolibrary.org/obo/MESH_C567816 EquivalentTo 'primary biliary cholangitis 3'
http://purl.obolibrary.org/obo/MONDO_0013079
primary biliary cholangitis 2
http://purl.obolibrary.org/obo/MESH_C567817 EquivalentTo 'primary biliary cholangitis 2'
http://purl.obolibrary.org/obo/MONDO_0013081
lymphoproliferative syndrome 1
'lymphoproliferative syndrome 1' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C126344
http://purl.obolibrary.org/obo/MESH_C567815 EquivalentTo 'lymphoproliferative syndrome 1'
http://purl.obolibrary.org/obo/MONDO_0013082
Hirschsprung disease-ganglioneuroblastoma syndrome
http://purl.obolibrary.org/obo/GARD_0002695 EquivalentTo 'Hirschsprung disease-ganglioneuroblastoma syndrome'
http://purl.obolibrary.org/obo/MONDO_0013098
noise induced hearing loss
http://purl.obolibrary.org/obo/MESH_D006317 EquivalentTo 'noise induced hearing loss'
'noise induced hearing loss' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001254
http://purl.obolibrary.org/obo/MONDO_0013099
combined pituitary hormone deficiencies, genetic form
http://purl.obolibrary.org/obo/GARD_0010602 EquivalentTo 'combined pituitary hormone deficiencies, genetic form'
http://purl.obolibrary.org/obo/MONDO_0003709
agoraphobia
'agoraphobia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001872
http://purl.obolibrary.org/obo/MONDO_0003729
aleukemic leukemia cutis
http://purl.obolibrary.org/obo/GARD_0006892 EquivalentTo 'aleukemic leukemia cutis'
http://purl.obolibrary.org/obo/MONDO_0003725
breast adenosis
'breast adenosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0006891
http://purl.obolibrary.org/obo/MONDO_0003727
animal phobia
'animal phobia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001876
http://purl.obolibrary.org/obo/MONDO_0003736
cancerophobia
'cancerophobia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35492
'cancerophobia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001879
http://purl.obolibrary.org/obo/MONDO_0003740
AIDS phobia
'AIDS phobia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001873
http://purl.obolibrary.org/obo/MONDO_0003748
flying phobia
'flying phobia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001889
http://purl.obolibrary.org/obo/MONDO_0003754
Brown-Sequard syndrome
'Brown-Sequard syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001279
http://purl.obolibrary.org/obo/MONDO_0003767
mitral valve disease
'mitral valve disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_83898004
'mitral valve disease' SubClassOf 'heart valve disease'
'mitral valve disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_11851006
'mitral valve disease' SubClassOf 'heart valve disease'
http://purl.obolibrary.org/obo/MONDO_0003789
hereditary papillary renal cell carcinoma
'hereditary papillary renal cell carcinoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_715561008
http://purl.obolibrary.org/obo/MONDO_0003785
leukopenia
'leukopenia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0004233
'leukopenia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C26816
http://purl.obolibrary.org/obo/MONDO_0013100
ATFB8
http://purl.obolibrary.org/obo/MESH_C567802 EquivalentTo 'ATFB8'
http://purl.obolibrary.org/obo/MONDO_0003556
endometrial adenosquamous carcinoma
'endometrial adenosquamous carcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001952
http://purl.obolibrary.org/obo/GARD_0013107 EquivalentTo 'endometrial adenosquamous carcinoma'
http://purl.obolibrary.org/obo/MONDO_0003584
visual cortex disease
'visual cortex disease' SubClassOf 'visual pathway disease'
'visual cortex disease' SubClassOf 'visual pathway disease'
http://purl.obolibrary.org/obo/SCTID_254889004
'cervix uteri carcinoma in situ' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254889004
http://purl.obolibrary.org/obo/MONDO_0042487 EquivalentTo http://purl.obolibrary.org/obo/SCTID_254889004
http://purl.obolibrary.org/obo/MONDO_0003603
non-functioning pituitary gland neoplasm
'non-functioning pituitary gland neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_448563005
http://purl.obolibrary.org/obo/MONDO_0003620
peripheral nervous system disease
'peripheral nervous system disease' SubClassOf 'nervous system disease'
'peripheral nervous system disease' SubClassOf 'nervous system disease'
http://purl.obolibrary.org/obo/MONDO_0003633
malignant mesenchymoma
http://purl.obolibrary.org/obo/GARD_0003369 EquivalentTo 'malignant mesenchymoma'
http://purl.obolibrary.org/obo/MONDO_0003664
hemolytic anemia
'hemolytic anemia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0005558
http://purl.obolibrary.org/obo/MONDO_0003505
femoral cancer
'femoral cancer' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0007270
http://purl.obolibrary.org/obo/MONDO_0003508
choriocarcinoma of testis
'choriocarcinoma of testis' SubClassOf 'choriocarcinoma (disease)'
'choriocarcinoma of testis' SubClassOf 'choriocarcinoma (disease)'
http://purl.obolibrary.org/obo/MONDO_0003518
mediastinum teratoma
'mediastinum teratoma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C6438
http://purl.obolibrary.org/obo/MONDO_0003519
malignant syringoma
http://purl.obolibrary.org/obo/GARD_0010438 EquivalentTo 'malignant syringoma'
'malignant syringoma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C7581
http://purl.obolibrary.org/obo/MONDO_0003539
T-cell adult acute lymphocytic leukemia
'T-cell adult acute lymphocytic leukemia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001936
http://purl.obolibrary.org/obo/MONDO_0003543
trigeminal nerve disease
'trigeminal nerve disease' SubClassOf 'cranial nerve neuropathy'
'trigeminal nerve disease' SubClassOf 'cranial nerve neuropathy'
'trigeminal nerve disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C26952
http://purl.obolibrary.org/obo/MONDO_0003311
endometrial stromal tumor
'endometrial stromal tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000920
http://purl.obolibrary.org/obo/MONDO_0017958
MAGIC syndrome
http://purl.obolibrary.org/obo/GARD_0013371 EquivalentTo 'MAGIC syndrome'
http://purl.obolibrary.org/obo/MONDO_0017951
trichorhinophalangeal syndrome
'trichorhinophalangeal syndrome' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0017953
hereditary periodic fever syndrome
http://purl.obolibrary.org/obo/MESH_D056660 EquivalentTo 'hereditary periodic fever syndrome'
http://purl.obolibrary.org/obo/MONDO_0017967
testicular agenesis
http://purl.obolibrary.org/obo/GARD_0005819 EquivalentTo 'testicular agenesis'
http://purl.obolibrary.org/obo/MONDO_0003336
acute necrotizing encephalitis
http://purl.obolibrary.org/obo/GARD_0013233 EquivalentTo 'acute necrotizing encephalitis'
http://purl.obolibrary.org/obo/MONDO_0017979
autoimmune lymphoproliferative syndrome
http://purl.obolibrary.org/obo/GARD_0008686 EquivalentTo 'autoimmune lymphoproliferative syndrome'
http://purl.obolibrary.org/obo/MONDO_0003345
hilar cholangiocarcinoma
http://purl.obolibrary.org/obo/MESH_D018285 EquivalentTo 'hilar cholangiocarcinoma'
http://purl.obolibrary.org/obo/MONDO_0003346
central nervous system vasculitis
'central nervous system vasculitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0017988
multifocal atrial tachycardia (disease)
http://purl.obolibrary.org/obo/GARD_0001235 EquivalentTo 'multifocal atrial tachycardia (disease)'
http://purl.obolibrary.org/obo/MONDO_0017984
familial lambdoid synostosis
http://purl.obolibrary.org/obo/GARD_0003168 EquivalentTo 'familial lambdoid synostosis'
http://purl.obolibrary.org/obo/MONDO_0017985
congenital radioulnar synostosis
http://purl.obolibrary.org/obo/GARD_0010876 EquivalentTo 'congenital radioulnar synostosis'
http://purl.obolibrary.org/obo/GARD_0004630 EquivalentTo 'congenital radioulnar synostosis'
http://purl.obolibrary.org/obo/MONDO_0017981
syngnathia-cleft palate syndrome
http://purl.obolibrary.org/obo/GARD_0005091 EquivalentTo 'syngnathia-cleft palate syndrome'
http://purl.obolibrary.org/obo/MONDO_0017998
PLA2G6-associated neurodegeneration
http://purl.obolibrary.org/obo/GARD_0012567 EquivalentTo 'PLA2G6-associated neurodegeneration'
http://purl.obolibrary.org/obo/MONDO_0017991
Takayasu arteritis
'Takayasu arteritis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001857
http://purl.obolibrary.org/obo/GARD_0007730 EquivalentTo 'Takayasu arteritis'
http://purl.obolibrary.org/obo/MONDO_0017990
catecholaminergic polymorphic ventricular tachycardia
http://purl.obolibrary.org/obo/GARD_0004421 EquivalentTo 'catecholaminergic polymorphic ventricular tachycardia'
http://purl.obolibrary.org/obo/MONDO_0003367
gastric leiomyosarcoma (disease)
'gastric leiomyosarcoma (disease)' EquivalentTo http://purl.obolibrary.org/obo/SCTID_447785000
http://purl.obolibrary.org/obo/MONDO_0003372
vulvar leiomyosarcoma
'vulvar leiomyosarcoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001975
http://purl.obolibrary.org/obo/MONDO_0003395
testicular granulosa cell tumor
'testicular granulosa cell tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000567
http://purl.obolibrary.org/obo/MONDO_0003402
testicular yolk sac tumor
http://purl.obolibrary.org/obo/GARD_0000348 EquivalentTo 'testicular yolk sac tumor'
http://purl.obolibrary.org/obo/MONDO_0003406
sleep wake disorder
'sleep wake disorder' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008568
http://purl.obolibrary.org/obo/MONDO_0003424
oncocytic adenoma
'oncocytic adenoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001079
http://purl.obolibrary.org/obo/MONDO_0003422
lung adenoma
'lung adenoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254642004
http://purl.obolibrary.org/obo/MONDO_0017838
sclerosteosis
http://purl.obolibrary.org/obo/GARD_0004771 EquivalentTo 'sclerosteosis'
http://purl.obolibrary.org/obo/MONDO_0017832
mycobacterium xenopi infection
http://purl.obolibrary.org/obo/GARD_0010550 EquivalentTo 'mycobacterium xenopi infection'
http://purl.obolibrary.org/obo/MONDO_0017842
Senior-Loken syndrome
http://purl.obolibrary.org/obo/GARD_0000322 EquivalentTo 'Senior-Loken syndrome'
http://purl.obolibrary.org/obo/MONDO_0017843
congenital pulmonary sequestration
http://purl.obolibrary.org/obo/GARD_0004593 EquivalentTo 'congenital pulmonary sequestration'
http://purl.obolibrary.org/obo/MONDO_0017844
Sezary syndrome
http://purl.obolibrary.org/obo/GARD_0007629 EquivalentTo 'Sezary syndrome'
http://purl.obolibrary.org/obo/MONDO_0003214
apocrine adenocarcinoma
http://purl.obolibrary.org/obo/GARD_0012138 EquivalentTo 'apocrine adenocarcinoma'
http://purl.obolibrary.org/obo/MONDO_0003210
intrahepatic cholangiocarcinoma
'intrahepatic cholangiocarcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001961
http://purl.obolibrary.org/obo/MONDO_0017853
hypersensitivity pneumonitis
http://purl.obolibrary.org/obo/GARD_0000012 EquivalentTo 'hypersensitivity pneumonitis'
http://purl.obolibrary.org/obo/MONDO_0017850
sirenomelia
http://purl.obolibrary.org/obo/GARD_0007652 EquivalentTo 'sirenomelia'
http://purl.obolibrary.org/obo/MONDO_0003222
central nervous system melanocytic neoplasm
'central nervous system melanocytic neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000493
http://purl.obolibrary.org/obo/MONDO_0003220
gallbladder carcinoma
'gallbladder carcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001956
http://purl.obolibrary.org/obo/MONDO_0017869
chondroectodermal dysplasia with night blindness
'chondroectodermal dysplasia with night blindness' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0017864
congenital pulmonary veins atresia or stenosis
http://purl.obolibrary.org/obo/GARD_0004598 EquivalentTo 'congenital pulmonary veins atresia or stenosis'
http://purl.obolibrary.org/obo/MONDO_0017865
congenital pulmonary valve stenosis
http://purl.obolibrary.org/obo/GARD_0004596 EquivalentTo 'congenital pulmonary valve stenosis'
http://purl.obolibrary.org/obo/MONDO_0003233
essential tremor
'essential tremor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003108
http://purl.obolibrary.org/obo/MONDO_0003232
alcoholic pancreatitis
'alcoholic pancreatitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1002013
http://purl.obolibrary.org/obo/MONDO_0017879
hantavirus pulmonary syndrome
'hantavirus pulmonary syndrome' SubClassOf 'lung disease'
'hantavirus pulmonary syndrome' EquivalentTo 'disease' and ('disease has location' some http://purl.obolibrary.org/obo/UBERON_0002048) and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_11598)
http://purl.obolibrary.org/obo/GARD_0000069 EquivalentTo 'hantavirus pulmonary syndrome'
'hantavirus pulmonary syndrome' SubClassOf 'hantavirus infectious disease'
'hantavirus pulmonary syndrome' SubClassOf 'viral respiratory tract infection'
'hantavirus pulmonary syndrome' SubClassOf 'rare respiratory disease'
http://purl.obolibrary.org/obo/MONDO_0003241
central nervous system hemangioma
'central nervous system hemangioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0017888
renal medullary carcinoma
http://purl.obolibrary.org/obo/GARD_0013175 EquivalentTo 'renal medullary carcinoma'
http://purl.obolibrary.org/obo/MONDO_0017884
papillary renal cell carcinoma
http://purl.obolibrary.org/obo/GARD_0009575 EquivalentTo 'papillary renal cell carcinoma'
http://purl.obolibrary.org/obo/MONDO_0003266
ependymal tumor
'ependymal tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000027
http://purl.obolibrary.org/obo/MONDO_0003282
ovarian cyst (disease)
'ovarian cyst (disease)' SubClassOf 'ovarian disease'
http://purl.obolibrary.org/obo/MESH_D010048 EquivalentTo 'ovarian cyst (disease)'
'ovarian cyst (disease)' SubClassOf 'ovarian disease'
http://purl.obolibrary.org/obo/MONDO_0017909
inherited glutathione synthetase deficiency
http://purl.obolibrary.org/obo/GARD_0010047 EquivalentTo 'inherited glutathione synthetase deficiency'
http://purl.obolibrary.org/obo/MONDO_0017904
steroid dehydrogenase deficiency-dental anomalies syndrome
http://purl.obolibrary.org/obo/GARD_0005015 EquivalentTo 'steroid dehydrogenase deficiency-dental anomalies syndrome'
http://purl.obolibrary.org/obo/MONDO_0017905
X-linked mendelian susceptibility to mycobacterial diseases
'X-linked mendelian susceptibility to mycobacterial diseases' EquivalentTo http://purl.obolibrary.org/obo/SCTID_719814009
http://purl.obolibrary.org/obo/MONDO_0017919
bladder exstrophy-epispadias-cloacal exstrophy complex
http://purl.obolibrary.org/obo/GARD_0002207 EquivalentTo 'bladder exstrophy-epispadias-cloacal exstrophy complex'
http://purl.obolibrary.org/obo/MONDO_0017910
dehydrated hereditary stomatocytosis
http://purl.obolibrary.org/obo/GARD_0005623 EquivalentTo 'dehydrated hereditary stomatocytosis'
http://purl.obolibrary.org/obo/MONDO_0017920
deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
http://purl.obolibrary.org/obo/GARD_0004303 EquivalentTo 'deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome'
http://purl.obolibrary.org/obo/MONDO_0017921
hearing loss-familial salivary gland insensitivity to aldosterone syndrome
http://purl.obolibrary.org/obo/GARD_0000422 EquivalentTo 'hearing loss-familial salivary gland insensitivity to aldosterone syndrome'
http://purl.obolibrary.org/obo/MONDO_0003304
plexiform neurofibroma (disease)
'plexiform neurofibroma (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0000658
http://purl.obolibrary.org/obo/MONDO_0017943
autoerythrocyte sensitization syndrome
http://purl.obolibrary.org/obo/GARD_0006481 EquivalentTo 'autoerythrocyte sensitization syndrome'
http://purl.obolibrary.org/obo/MONDO_0017719
gangliosidosis
http://purl.obolibrary.org/obo/GARD_0012510 EquivalentTo 'gangliosidosis'
http://purl.obolibrary.org/obo/MONDO_0017714
acyl-CoA dehydrogenase deficiency
'acyl-CoA dehydrogenase deficiency' EquivalentTo http://purl.obolibrary.org/obo/SCTID_82319005
http://purl.obolibrary.org/obo/MONDO_0017720
GM2 gangliosidosis
http://purl.obolibrary.org/obo/MESH_D020143 EquivalentTo 'GM2 gangliosidosis'
http://purl.obolibrary.org/obo/GARD_0002522 EquivalentTo 'GM2 gangliosidosis'
http://purl.obolibrary.org/obo/MONDO_0017735
congenital aortic valve stenosis
'congenital aortic valve stenosis' SubClassOf 'aortic malformation'
'congenital aortic valve stenosis' SubClassOf 'ascending aorta anomaly'
'congenital aortic valve stenosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042981
http://purl.obolibrary.org/obo/MONDO_0017746
atypical Rett syndrome
http://purl.obolibrary.org/obo/GARD_0004694 EquivalentTo 'atypical Rett syndrome'
http://purl.obolibrary.org/obo/MONDO_0003124
testicular leydig cell tumor
'testicular leydig cell tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000569
http://purl.obolibrary.org/obo/MONDO_0003125
testicular sex cord-stromal neoplasm
'testicular sex cord-stromal neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_702406000
http://purl.obolibrary.org/obo/MONDO_0017775
melioidosis
'melioidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043953
http://purl.obolibrary.org/obo/MONDO_0017770
Robinow-like syndrome
'Robinow-like syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'Robinow-like syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0003147
space motion sickness
'space motion sickness' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001188
http://purl.obolibrary.org/obo/MONDO_0017788
contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
'contractures-webbed neck-micrognathia-hypoplastic nipples syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'contractures-webbed neck-micrognathia-hypoplastic nipples syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0003159
vascular hemostatic disease
http://purl.obolibrary.org/obo/MESH_D020141 EquivalentTo 'vascular hemostatic disease'
http://purl.obolibrary.org/obo/MONDO_0003154
hemangioma of peripheral nerve
'hemangioma of peripheral nerve' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0017795
ameloblastoma
http://purl.obolibrary.org/obo/GARD_0005747 EquivalentTo 'ameloblastoma'
http://purl.obolibrary.org/obo/MONDO_0003174
spinal cord astrocytoma
'spinal cord astrocytoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000544
http://purl.obolibrary.org/obo/MONDO_0003173
brain stem astrocytic neoplasm
'brain stem astrocytic neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_107581000119103
http://purl.obolibrary.org/obo/MONDO_0003198
small intestine adenocarcinoma
http://purl.obolibrary.org/obo/GARD_0013090 EquivalentTo 'small intestine adenocarcinoma'
http://purl.obolibrary.org/obo/MONDO_0017816
primary systemic amyloidosis
'primary systemic amyloidosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_89449005
http://purl.obolibrary.org/obo/MONDO_0017813
van Maldergem syndrome
http://purl.obolibrary.org/obo/GARD_0005456 EquivalentTo 'van Maldergem syndrome'
http://purl.obolibrary.org/obo/MONDO_0017827
malignant peripheral nerve sheath tumor
http://purl.obolibrary.org/obo/GARD_0010872 EquivalentTo 'malignant peripheral nerve sheath tumor'
http://purl.obolibrary.org/obo/MONDO_0017607
caudal regression sequence
http://purl.obolibrary.org/obo/GARD_0006007 EquivalentTo 'caudal regression sequence'
http://purl.obolibrary.org/obo/MONDO_0017608
dystrophic epidermolysis bullosa
http://purl.obolibrary.org/obo/GARD_0002150 EquivalentTo 'dystrophic epidermolysis bullosa'
http://purl.obolibrary.org/obo/MONDO_0017609
renal tubular dysgenesis
http://purl.obolibrary.org/obo/GARD_0000379 EquivalentTo 'renal tubular dysgenesis'
http://purl.obolibrary.org/obo/MONDO_0017604
marginal zone lymphoma
http://purl.obolibrary.org/obo/GARD_0013237 EquivalentTo 'marginal zone lymphoma'
http://purl.obolibrary.org/obo/MONDO_0017606
facial nerve palsy due to herpes zoster infection
http://purl.obolibrary.org/obo/GARD_0007525 EquivalentTo 'facial nerve palsy due to herpes zoster infection'
http://purl.obolibrary.org/obo/MONDO_0017614
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
http://purl.obolibrary.org/obo/GARD_0000345 EquivalentTo 'X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome'
http://purl.obolibrary.org/obo/MONDO_0017615
benign familial infantile epilepsy
http://purl.obolibrary.org/obo/GARD_0000857 EquivalentTo 'benign familial infantile epilepsy'
http://purl.obolibrary.org/obo/MONDO_0017617
acquired adult-onset immunodeficiency
http://purl.obolibrary.org/obo/GARD_0011992 EquivalentTo 'acquired adult-onset immunodeficiency'
http://purl.obolibrary.org/obo/MONDO_0017638
manganese poisoning
'manganese poisoning' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001808
http://purl.obolibrary.org/obo/MONDO_0017630
X-linked complicated spastic paraplegia type 1
http://purl.obolibrary.org/obo/GARD_0012525 EquivalentTo 'X-linked complicated spastic paraplegia type 1'
http://purl.obolibrary.org/obo/MONDO_0003003
cervical alveolar soft part sarcoma
'cervical alveolar soft part sarcoma' SubClassOf 'cervical cancer'
'cervical alveolar soft part sarcoma' SubClassOf 'alveolar soft part sarcoma (disease)'
'cervical alveolar soft part sarcoma' SubClassOf 'sarcoma of cervix uteri'
'cervical alveolar soft part sarcoma' EquivalentTo 'alveolar soft part sarcoma (disease)' and ('disease has location' some http://purl.obolibrary.org/obo/UBERON_0000002)
http://purl.obolibrary.org/obo/MONDO_0003004
macular degeneration
'macular degeneration' EquivalentTo http://purl.obolibrary.org/obo/SCTID_422338006
http://purl.obolibrary.org/obo/MONDO_0003014
rhinitis
'rhinitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008521
http://purl.obolibrary.org/obo/MONDO_0003028
thyroid sarcoma
'thyroid sarcoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001971
http://purl.obolibrary.org/obo/MONDO_0003021
central nervous system angiosarcoma
'central nervous system angiosarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0003046
anus neoplasm
'anus neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003835
http://purl.obolibrary.org/obo/MONDO_0003045
anal gland neoplasm
'anal gland neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000804
http://purl.obolibrary.org/obo/MONDO_0017682
intellectual disability-polydactyly-uncombable hair syndrome
http://purl.obolibrary.org/obo/GARD_0003141 EquivalentTo 'intellectual disability-polydactyly-uncombable hair syndrome'
http://purl.obolibrary.org/obo/MONDO_0003058
microcystic meningioma
'microcystic meningioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000376
http://purl.obolibrary.org/obo/MONDO_0003053
choroid plexus meningioma
'choroid plexus meningioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0003055
secretory meningioma
'secretory meningioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000522
http://purl.obolibrary.org/obo/MONDO_0003056
lymphoplasmacyte-rich meningioma
'lymphoplasmacyte-rich meningioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000342
http://purl.obolibrary.org/obo/MONDO_0003062
intestinal benign neoplasm
'intestinal benign neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_92151003
http://purl.obolibrary.org/obo/MONDO_0003072
retinal cancer
'retinal cancer' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0005716
http://purl.obolibrary.org/obo/OMIM_170400
'hypokalemic periodic paralysis' EquivalentTo http://purl.obolibrary.org/obo/OMIM_170400
http://purl.obolibrary.org/obo/MONDO_0042979 EquivalentTo http://purl.obolibrary.org/obo/OMIM_170400
http://purl.obolibrary.org/obo/MONDO_0003091
cutaneous mucoepidermoid carcinoma
'cutaneous mucoepidermoid carcinoma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C4472
http://purl.obolibrary.org/obo/MONDO_0003093
mucoepidermoid esophageal carcinoma
'mucoepidermoid esophageal carcinoma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C5343
http://purl.obolibrary.org/obo/MONDO_0017705
congenital pulmonary venous return anomaly
http://purl.obolibrary.org/obo/GARD_0004599 EquivalentTo 'congenital pulmonary venous return anomaly'
http://purl.obolibrary.org/obo/MONDO_0017568
Prata-Liberal-Goncalves syndrome
http://purl.obolibrary.org/obo/GARD_0000491 EquivalentTo 'Prata-Liberal-Goncalves syndrome'
http://purl.obolibrary.org/obo/MONDO_0017569
de Barsy syndrome
http://purl.obolibrary.org/obo/GARD_0000049 EquivalentTo 'de Barsy syndrome'
http://purl.obolibrary.org/obo/MONDO_0017560
congenital genu recurvatum
'congenital genu recurvatum' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C103184
http://purl.obolibrary.org/obo/MONDO_0017577
spontaneous periodic hypothermia
http://purl.obolibrary.org/obo/GARD_0004815 EquivalentTo 'spontaneous periodic hypothermia'
http://purl.obolibrary.org/obo/MONDO_0017571
Proteus-like syndrome
http://purl.obolibrary.org/obo/GARD_0004525 EquivalentTo 'Proteus-like syndrome'
'Proteus-like syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_716862002
http://purl.obolibrary.org/obo/GARD_0012801 EquivalentTo 'Proteus-like syndrome'
http://purl.obolibrary.org/obo/MONDO_0017572
tick-borne encephalitis
'tick-borne encephalitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34579
http://purl.obolibrary.org/obo/MONDO_0023283
ovarian granulosa cell tumor
'ovarian granulosa cell tumor' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254863004
'ovarian granulosa cell tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000421
http://www.orpha.net/ORDO/Orphanet_262776
'partial duplication of the short arm of chromosome X' EquivalentTo http://www.orpha.net/ORDO/Orphanet_262776
'obsolete partial duplication of the short arm of chromosome 10' EquivalentTo http://www.orpha.net/ORDO/Orphanet_262776
http://purl.obolibrary.org/obo/MONDO_0013955
mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
http://purl.obolibrary.org/obo/GARD_0010984 EquivalentTo 'mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency'
http://purl.obolibrary.org/obo/MONDO_0013968
PGM1-CDG
http://purl.obolibrary.org/obo/GARD_0004329 EquivalentTo 'PGM1-CDG'
http://purl.obolibrary.org/obo/MONDO_0013971
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
http://purl.obolibrary.org/obo/GARD_0013381 EquivalentTo 'leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome'
http://purl.obolibrary.org/obo/MONDO_0023305
heavy metal poisoning
'heavy metal poisoning' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001518
http://purl.obolibrary.org/obo/MONDO_0023154
fibromatosis multiple non ossifying
'fibromatosis multiple non ossifying' EquivalentTo http://purl.obolibrary.org/obo/SCTID_715432009
http://purl.obolibrary.org/obo/OMIM_601228
'hereditary mixed polyposis syndrome' EquivalentTo http://purl.obolibrary.org/obo/OMIM_601228
http://purl.obolibrary.org/obo/MONDO_0042486 EquivalentTo http://purl.obolibrary.org/obo/OMIM_601228
http://purl.obolibrary.org/obo/MONDO_0013801
epileptic encephalopathy, early infantile, 13
http://purl.obolibrary.org/obo/GARD_0013085 EquivalentTo 'epileptic encephalopathy, early infantile, 13'
http://purl.obolibrary.org/obo/MONDO_0013815
FGFR2-related bent bone dysplasia
http://purl.obolibrary.org/obo/GARD_0010965 EquivalentTo 'FGFR2-related bent bone dysplasia'
http://purl.obolibrary.org/obo/MONDO_0013810
COG6-CGD
http://purl.obolibrary.org/obo/GARD_0010944 EquivalentTo 'COG6-CGD'
http://www.orpha.net/ORDO/Orphanet_262648
'partial duplication of chromosome X' EquivalentTo http://www.orpha.net/ORDO/Orphanet_262648
'obsolete partial duplication of chromosome 10' EquivalentTo http://www.orpha.net/ORDO/Orphanet_262648
http://purl.obolibrary.org/obo/MONDO_0013847
chromosome 16p11.2 duplication syndrome
http://purl.obolibrary.org/obo/GARD_0012388 EquivalentTo 'chromosome 16p11.2 duplication syndrome'
http://purl.obolibrary.org/obo/MONDO_0013842
cortisone reductase deficiency 2
'cortisone reductase deficiency 2' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C131084
http://purl.obolibrary.org/obo/MONDO_0013869
adenine phosphoribosyltransferase deficiency
'adenine phosphoribosyltransferase deficiency' EquivalentTo http://purl.obolibrary.org/obo/SCTID_124274002
http://purl.obolibrary.org/obo/GARD_0000546 EquivalentTo 'adenine phosphoribosyltransferase deficiency'
http://purl.obolibrary.org/obo/MONDO_0013860
idiopathic membranous glomerulonephritis
http://purl.obolibrary.org/obo/GARD_0009180 EquivalentTo 'idiopathic membranous glomerulonephritis'
'idiopathic membranous glomerulonephritis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C123060
http://purl.obolibrary.org/obo/MONDO_0013878
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
'pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001501
http://purl.obolibrary.org/obo/MONDO_0013870
TMEM165-CDG
http://purl.obolibrary.org/obo/GARD_0012413 EquivalentTo 'TMEM165-CDG'
http://purl.obolibrary.org/obo/MONDO_0013875
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
http://purl.obolibrary.org/obo/GARD_0012963 EquivalentTo '3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome'
http://purl.obolibrary.org/obo/MONDO_0013889
short stature-optic atrophy-Pelger-HuC+t anomaly syndrome
http://purl.obolibrary.org/obo/GARD_0010945 EquivalentTo 'short stature-optic atrophy-Pelger-HuC+t anomaly syndrome'
http://purl.obolibrary.org/obo/MONDO_0013897
Loeys-Dietz syndrome 4
http://purl.obolibrary.org/obo/GARD_0010588 EquivalentTo 'Loeys-Dietz syndrome 4'
http://purl.obolibrary.org/obo/MONDO_0023243
glass-chapman-hockley syndrome
'glass-chapman-hockley syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_1535
http://purl.obolibrary.org/obo/MONDO_0023235
giant congenital nevus
'giant congenital nevus' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254815002
http://purl.obolibrary.org/obo/MONDO_0023072
envenomization by bothrops lanceolatus
'envenomization by bothrops lanceolatus' EquivalentTo http://www.orpha.net/ORDO/Orphanet_1939
http://purl.obolibrary.org/obo/MONDO_0013727
pregnancy loss, recurrent, susceptibility to, 1
'pregnancy loss, recurrent, susceptibility to, 1' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008899
http://purl.obolibrary.org/obo/MONDO_0013731
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
http://purl.obolibrary.org/obo/GARD_0012199 EquivalentTo 'early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome'
http://purl.obolibrary.org/obo/MONDO_0013758
Charcot-Marie-tooth disease dominant intermediate E
http://purl.obolibrary.org/obo/GARD_0012011 EquivalentTo 'Charcot-Marie-tooth disease dominant intermediate E'
http://purl.obolibrary.org/obo/MONDO_0013753
Charcot-Marie-tooth disease axonal type 2P
http://purl.obolibrary.org/obo/GARD_0012435 EquivalentTo 'Charcot-Marie-tooth disease axonal type 2P'
http://purl.obolibrary.org/obo/MONDO_0013768
arterial calcification, generalized, of infancy, 2
'arterial calcification, generalized, of infancy, 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0013777
pseudohypoaldosteronism type 2B
http://purl.obolibrary.org/obo/MESH_C564161 EquivalentTo 'pseudohypoaldosteronism type 2B'
http://purl.obolibrary.org/obo/MONDO_0013778
pseudohypoaldosteronism type 2C
http://purl.obolibrary.org/obo/MESH_C564162 EquivalentTo 'pseudohypoaldosteronism type 2C'
http://purl.obolibrary.org/obo/MONDO_0013775
thrombomodulin-related bleeding disorder
http://purl.obolibrary.org/obo/MESH_C566057 EquivalentTo 'thrombomodulin-related bleeding disorder'
http://purl.obolibrary.org/obo/MONDO_0037747
spinal injury
http://purl.obolibrary.org/obo/MESH_D013124 EquivalentTo 'spinal injury'
http://purl.obolibrary.org/obo/MONDO_0013789
DDOST-CDG
http://purl.obolibrary.org/obo/GARD_0012398 EquivalentTo 'DDOST-CDG'
http://purl.obolibrary.org/obo/MONDO_0013796
chromosome 17q12 duplication syndrome
http://purl.obolibrary.org/obo/GARD_0013296 EquivalentTo 'chromosome 17q12 duplication syndrome'
http://purl.obolibrary.org/obo/MONDO_0013797
chromosome 17q12 deletion syndrome
http://purl.obolibrary.org/obo/GARD_0013297 EquivalentTo 'chromosome 17q12 deletion syndrome'
http://purl.obolibrary.org/obo/MONDO_0023143
fetal enterovirus syndrome
'fetal enterovirus syndrome' EquivalentTo 'infectious embryofetopathy' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_12059)
'fetal enterovirus syndrome' SubClassOf 'infectious embryofetopathy'
'fetal enterovirus syndrome' SubClassOf 'rare viral disease'
http://purl.obolibrary.org/obo/MONDO_0023147
fetal parainfluenza virus type 3 syndrome
'fetal parainfluenza virus type 3 syndrome' SubClassOf 'realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_11216
'fetal parainfluenza virus type 3 syndrome' SubClassOf 'respirovirus infectious disease'
'fetal parainfluenza virus type 3 syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042974
'fetal parainfluenza virus type 3 syndrome' SubClassOf 'infectious embryofetopathy'
'fetal parainfluenza virus type 3 syndrome' EquivalentTo 'infectious embryofetopathy' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_11216)
'fetal parainfluenza virus type 3 syndrome' SubClassOf 'rare viral disease'
http://purl.obolibrary.org/obo/MONDO_0013599
autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
http://purl.obolibrary.org/obo/GARD_0012314 EquivalentTo 'autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome'
'autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
http://purl.obolibrary.org/obo/MONDO_0013594
spinocerebellar ataxia type 36
http://purl.obolibrary.org/obo/GARD_0012367 EquivalentTo 'spinocerebellar ataxia type 36'
http://www.orpha.net/ORDO/Orphanet_262914
'partial duplication of the long arm of chromosome X' EquivalentTo http://www.orpha.net/ORDO/Orphanet_262914
'obsolete partial duplication of the long arm of chromosome 10' EquivalentTo http://www.orpha.net/ORDO/Orphanet_262914
http://purl.obolibrary.org/obo/MONDO_0013607
monocytopenia with susceptibility to infections
http://purl.obolibrary.org/obo/GARD_0010934 EquivalentTo 'monocytopenia with susceptibility to infections'
'monocytopenia with susceptibility to infections' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042982
http://purl.obolibrary.org/obo/MONDO_0013601
gluthathione peroxidase deficiency
'gluthathione peroxidase deficiency' EquivalentTo http://purl.obolibrary.org/obo/SCTID_234590006
http://purl.obolibrary.org/obo/MONDO_0013602
paragangliomas 5
'paragangliomas 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0013623
platelet-type bleeding disorder 11
http://purl.obolibrary.org/obo/GARD_0013293 EquivalentTo 'platelet-type bleeding disorder 11'
http://purl.obolibrary.org/obo/MONDO_0013640
familial retinal arterial macroaneurysm
http://purl.obolibrary.org/obo/GARD_0012779 EquivalentTo 'familial retinal arterial macroaneurysm'
http://purl.obolibrary.org/obo/MONDO_0013644
Charcot-Marie-tooth disease axonal type 2O
http://purl.obolibrary.org/obo/GARD_0012434 EquivalentTo 'Charcot-Marie-tooth disease axonal type 2O'
http://purl.obolibrary.org/obo/MONDO_0013659
microcephaly-capillary malformation syndrome
'microcephaly-capillary malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0013651
intellectual disability, autosomal recessive 18
http://purl.obolibrary.org/obo/GARD_0012233 EquivalentTo 'intellectual disability, autosomal recessive 18'
http://purl.obolibrary.org/obo/MONDO_0013661
combined malonic and methylmalonic acidemia
http://purl.obolibrary.org/obo/GARD_0010818 EquivalentTo 'combined malonic and methylmalonic acidemia'
http://purl.obolibrary.org/obo/MONDO_0013668
tetrasomy 18p
'tetrasomy 18p' SubClassOf http://purl.obolibrary.org/obo/MONDO_0030502
http://purl.obolibrary.org/obo/GARD_0000035 EquivalentTo 'tetrasomy 18p'
http://purl.obolibrary.org/obo/MONDO_0013674
neurodegeneration with brain iron accumulation 4
http://purl.obolibrary.org/obo/GARD_0012569 EquivalentTo 'neurodegeneration with brain iron accumulation 4'
http://purl.obolibrary.org/obo/MONDO_0013673
Wolfram-like syndrome
http://purl.obolibrary.org/obo/MESH_C565631 EquivalentTo 'Wolfram-like syndrome'
http://purl.obolibrary.org/obo/MONDO_0013681
alpha-methylacyl-CoA racemase deficiency
'alpha-methylacyl-CoA racemase deficiency' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001980
http://purl.obolibrary.org/obo/MONDO_0013680
cognitive impairment with or without cerebellar ataxia
'cognitive impairment with or without cerebellar ataxia' EquivalentTo http://www.orpha.net/ORDO/Orphanet_293928
http://purl.obolibrary.org/obo/MONDO_0013692
BAP1-related tumor predisposition syndrome
http://purl.obolibrary.org/obo/GARD_0013219 EquivalentTo 'BAP1-related tumor predisposition syndrome'
http://purl.obolibrary.org/obo/MONDO_0013478
PLIN1-related familial partial lipodystrophy
http://purl.obolibrary.org/obo/GARD_0012601 EquivalentTo 'PLIN1-related familial partial lipodystrophy'
http://purl.obolibrary.org/obo/MONDO_0013485
spinocerebellar ataxia type 35
http://purl.obolibrary.org/obo/GARD_0012366 EquivalentTo 'spinocerebellar ataxia type 35'
http://purl.obolibrary.org/obo/MONDO_0013494
PSMNSW
http://purl.obolibrary.org/obo/MESH_D013009 EquivalentTo 'PSMNSW'
http://purl.obolibrary.org/obo/MONDO_0013515
osteogenesis imperfecta type 6
http://purl.obolibrary.org/obo/GARD_0008700 EquivalentTo 'osteogenesis imperfecta type 6'
http://purl.obolibrary.org/obo/MONDO_0013526
progressive myoclonic epilepsy type 6
http://purl.obolibrary.org/obo/GARD_0003872 EquivalentTo 'progressive myoclonic epilepsy type 6'
http://purl.obolibrary.org/obo/MONDO_0013533
hyperlipidemia due to hepatic triglyceride lipase deficiency
http://purl.obolibrary.org/obo/GARD_0012864 EquivalentTo 'hyperlipidemia due to hepatic triglyceride lipase deficiency'
http://purl.obolibrary.org/obo/MONDO_0013540
deafness-lymphedema-leukemia syndrome
'deafness-lymphedema-leukemia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042982
http://purl.obolibrary.org/obo/MONDO_0013541
complex cortical dysplasia with other brain malformations 1
http://purl.obolibrary.org/obo/GARD_0013032 EquivalentTo 'complex cortical dysplasia with other brain malformations 1'
http://purl.obolibrary.org/obo/MONDO_0013546
mitochondrial complex V (ATP synthase) deficiency nuclear type 2
http://purl.obolibrary.org/obo/GARD_0012965 EquivalentTo 'mitochondrial complex V (ATP synthase) deficiency nuclear type 2'
http://purl.obolibrary.org/obo/MONDO_0013563
multiple congenital anomalies-hypotonia-seizures syndrome 1
http://purl.obolibrary.org/obo/GARD_0012781 EquivalentTo 'multiple congenital anomalies-hypotonia-seizures syndrome 1'
http://purl.obolibrary.org/obo/MONDO_0013561
chondrodysplasia with joint dislocations, gPAPP type
http://purl.obolibrary.org/obo/GARD_0011009 EquivalentTo 'chondrodysplasia with joint dislocations, gPAPP type'
http://purl.obolibrary.org/obo/MONDO_0013571
acatalasia
http://purl.obolibrary.org/obo/GARD_0000363 EquivalentTo 'acatalasia'
http://purl.obolibrary.org/obo/MONDO_0013584
hereditary sensory neuropathy-deafness-dementia syndrome
http://purl.obolibrary.org/obo/GARD_0011927 EquivalentTo 'hereditary sensory neuropathy-deafness-dementia syndrome'
http://purl.obolibrary.org/obo/MESH_C580162 EquivalentTo 'hereditary sensory neuropathy-deafness-dementia syndrome'
http://purl.obolibrary.org/obo/MONDO_0013354
spastic ataxia 4
http://purl.obolibrary.org/obo/GARD_0010992 EquivalentTo 'spastic ataxia 4'
http://purl.obolibrary.org/obo/MONDO_0013359
familial hyperaldosteronism type III
http://purl.obolibrary.org/obo/GARD_0012362 EquivalentTo 'familial hyperaldosteronism type III'
http://purl.obolibrary.org/obo/MONDO_0013357
chromosome 17q11.2 deletion syndrome, 1.4Mb
http://purl.obolibrary.org/obo/GARD_0005408 EquivalentTo 'chromosome 17q11.2 deletion syndrome, 1.4Mb'
http://purl.obolibrary.org/obo/MONDO_0013351
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
http://purl.obolibrary.org/obo/GARD_0010995 EquivalentTo 'infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly'
http://purl.obolibrary.org/obo/MONDO_0013366
spondylocostal dysostosis 4, autosomal recessive
http://purl.obolibrary.org/obo/GARD_0004976 EquivalentTo 'spondylocostal dysostosis 4, autosomal recessive'
http://purl.obolibrary.org/obo/MONDO_0013369
hypertrophic cardiomyopathy 7
'hypertrophic cardiomyopathy 7' EquivalentTo http://www.orpha.net/ORDO/Orphanet_120184
http://purl.obolibrary.org/obo/MONDO_0013363
chromosome 2q31.1 duplication syndrome
'chromosome 2q31.1 duplication syndrome' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0013387
KCNQ2-related epileptic encephalopathy
http://purl.obolibrary.org/obo/GARD_0013060 EquivalentTo 'KCNQ2-related epileptic encephalopathy'
http://purl.obolibrary.org/obo/MONDO_0013391
leukoencephalopathy-dystonia-motor neuropathy syndrome
http://purl.obolibrary.org/obo/GARD_0012471 EquivalentTo 'leukoencephalopathy-dystonia-motor neuropathy syndrome'
http://purl.obolibrary.org/obo/MONDO_0013390
autosomal recessive limb-girdle muscular dystrophy type 2Q
http://purl.obolibrary.org/obo/GARD_0012542 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2Q'
http://purl.obolibrary.org/obo/MONDO_0013396
chromosome 1p32-p31 deletion syndrome
'chromosome 1p32-p31 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/OMIM_601606
'familial multiple trichoepithelioma' EquivalentTo http://purl.obolibrary.org/obo/OMIM_601606
http://purl.obolibrary.org/obo/MONDO_0042977 EquivalentTo http://purl.obolibrary.org/obo/OMIM_601606
http://purl.obolibrary.org/obo/MONDO_0013400
congenital adrenal insufficiency
'congenital adrenal insufficiency' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C131422
http://purl.obolibrary.org/obo/MONDO_0013404
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
http://purl.obolibrary.org/obo/GARD_0013177 EquivalentTo 'hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase'
http://purl.obolibrary.org/obo/MONDO_0013415
chromosome 17p13.1 deletion syndrome
http://purl.obolibrary.org/obo/GARD_0010996 EquivalentTo 'chromosome 17p13.1 deletion syndrome'
http://purl.obolibrary.org/obo/MONDO_0013426
aneurysm-osteoarthritis syndrome
http://purl.obolibrary.org/obo/GARD_0010997 EquivalentTo 'aneurysm-osteoarthritis syndrome'
http://purl.obolibrary.org/obo/MONDO_0013424
3p- syndrome
http://purl.obolibrary.org/obo/MESH_C536804 EquivalentTo '3p- syndrome'
http://purl.obolibrary.org/obo/GARD_0003750 EquivalentTo '3p- syndrome'
'3p- syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C41377
http://purl.obolibrary.org/obo/GARD_0000037 EquivalentTo '3p- syndrome'
http://purl.obolibrary.org/obo/MONDO_0013433
primary sclerosing cholangitis
http://purl.obolibrary.org/obo/GARD_0001280 EquivalentTo 'primary sclerosing cholangitis'
http://purl.obolibrary.org/obo/MONDO_0013440
autosomal recessive limb-girdle muscular dystrophy type 2P
http://purl.obolibrary.org/obo/GARD_0012541 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2P'
http://purl.obolibrary.org/obo/MONDO_0013452
multisystemic smooth muscle dysfunction syndrome
'multisystemic smooth muscle dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0013459
osteogenesis imperfecta type 10
http://purl.obolibrary.org/obo/GARD_0012874 EquivalentTo 'osteogenesis imperfecta type 10'
http://purl.obolibrary.org/obo/MONDO_0013456
constitutional megaloblastic anemia with severe neurologic disease
http://purl.obolibrary.org/obo/GARD_0011000 EquivalentTo 'constitutional megaloblastic anemia with severe neurologic disease'
http://purl.obolibrary.org/obo/MONDO_0013232
Brachydactylous dwarfism, Mseleni type
http://purl.obolibrary.org/obo/GARD_0000960 EquivalentTo 'Brachydactylous dwarfism, Mseleni type'
http://purl.obolibrary.org/obo/MONDO_0013238
chromosome 17q23.1-q23.2 deletion syndrome
http://purl.obolibrary.org/obo/GARD_0010936 EquivalentTo 'chromosome 17q23.1-q23.2 deletion syndrome'
http://purl.obolibrary.org/obo/MONDO_0013245
syndromic multisystem autoimmune disease due to itch deficiency
'syndromic multisystem autoimmune disease due to itch deficiency' SubClassOf 'autoimmune disease of gastrointestinal tract'
'syndromic multisystem autoimmune disease due to itch deficiency' SubClassOf 'autoimmune enteropathy'
http://purl.obolibrary.org/obo/MONDO_0013241
spinocerebellar ataxia type 30
http://purl.obolibrary.org/obo/GARD_0004950 EquivalentTo 'spinocerebellar ataxia type 30'
http://purl.obolibrary.org/obo/MONDO_0013256
chromosome 15q24 deletion syndrome
http://purl.obolibrary.org/obo/GARD_0012219 EquivalentTo 'chromosome 15q24 deletion syndrome'
http://purl.obolibrary.org/obo/MESH_C579849 EquivalentTo 'chromosome 15q24 deletion syndrome'
'chromosome 15q24 deletion syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_699308002
http://purl.obolibrary.org/obo/MONDO_0013252
Warsaw breakage syndrome
'Warsaw breakage syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'Warsaw breakage syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0013275
hemolytic anemia due to glucophosphate isomerase deficiency
http://purl.obolibrary.org/obo/GARD_0002502 EquivalentTo 'hemolytic anemia due to glucophosphate isomerase deficiency'
http://purl.obolibrary.org/obo/MONDO_0013281
COG4-CDG
http://purl.obolibrary.org/obo/GARD_0012412 EquivalentTo 'COG4-CDG'
http://purl.obolibrary.org/obo/MONDO_0013280
myxoid liposarcoma
http://purl.obolibrary.org/obo/GARD_0007157 EquivalentTo 'myxoid liposarcoma'
http://purl.obolibrary.org/obo/MONDO_0013298
chromosome 17q21.31 duplication syndrome
'chromosome 17q21.31 duplication syndrome' SubClassOf 'rare genetic syndromic intellectual disability'
http://purl.obolibrary.org/obo/MONDO_0013297
autosomal dominant limb-girdle muscular dystrophy type 1H
http://purl.obolibrary.org/obo/GARD_0012532 EquivalentTo 'autosomal dominant limb-girdle muscular dystrophy type 1H'
http://purl.obolibrary.org/obo/MONDO_0037252
thecoma
http://purl.obolibrary.org/obo/MESH_D013798 EquivalentTo 'thecoma'
http://purl.obolibrary.org/obo/MONDO_0037253
ovarian thecoma
'ovarian thecoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254864005
http://purl.obolibrary.org/obo/MONDO_0003918
angiomatous meningioma
'angiomatous meningioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000086
http://purl.obolibrary.org/obo/MONDO_0003924
adrenal cortex adenoma
http://purl.obolibrary.org/obo/GARD_0005745 EquivalentTo 'adrenal cortex adenoma'
'adrenal cortex adenoma' EquivalentTo http://www.orpha.net/ORDO/Orphanet_463
http://purl.obolibrary.org/obo/OMIM_601764
'benign familial neonatal-infantile seizures' EquivalentTo http://purl.obolibrary.org/obo/OMIM_601764
http://purl.obolibrary.org/obo/MONDO_0042499 EquivalentTo http://purl.obolibrary.org/obo/OMIM_601764
http://purl.obolibrary.org/obo/MONDO_0003932
childhood optic nerve glioma
http://purl.obolibrary.org/obo/GARD_0009309 EquivalentTo 'childhood optic nerve glioma'
http://purl.obolibrary.org/obo/MONDO_0003945
bone epithelioid hemangioma
'bone epithelioid hemangioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000132
http://purl.obolibrary.org/obo/MONDO_0003975
Littre gland carcinoma
'Littre gland carcinoma' SubClassOf 'male urethral cancer'
http://purl.obolibrary.org/obo/MONDO_0013304
von Willebrand disease 2
http://purl.obolibrary.org/obo/MESH_D056728 EquivalentTo 'von Willebrand disease 2'
http://purl.obolibrary.org/obo/MONDO_0013322
FAME3
http://purl.obolibrary.org/obo/MESH_C567098 EquivalentTo 'FAME3'
http://purl.obolibrary.org/obo/MONDO_0013325
COG5-CDG
http://purl.obolibrary.org/obo/GARD_0012348 EquivalentTo 'COG5-CDG'
http://purl.obolibrary.org/obo/MONDO_0013338
Charcot-Marie-tooth disease recessive intermediate b
http://purl.obolibrary.org/obo/GARD_0012454 EquivalentTo 'Charcot-Marie-tooth disease recessive intermediate b'
http://purl.obolibrary.org/obo/MONDO_0013344
migraine, with or without aura, susceptibility to, 13
'migraine, with or without aura, susceptibility to, 13' SubClassOf 'rare genetic vascular disease'
http://purl.obolibrary.org/obo/MONDO_0013349
ALG11-CDG
http://purl.obolibrary.org/obo/GARD_0012396 EquivalentTo 'ALG11-CDG'
http://purl.obolibrary.org/obo/MONDO_0027766
generalized lipodystrophy
'generalized lipodystrophy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C131815
http://purl.obolibrary.org/obo/MONDO_0003795
ovarian small cell carcinoma
http://purl.obolibrary.org/obo/GARD_0010411 EquivalentTo 'ovarian small cell carcinoma'
http://purl.obolibrary.org/obo/MONDO_0027767
partial lipodystrophy
'partial lipodystrophy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C131296
http://purl.obolibrary.org/obo/MONDO_0013111
acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
http://purl.obolibrary.org/obo/GARD_0010593 EquivalentTo 'acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins'
http://purl.obolibrary.org/obo/MONDO_0013118
Nijmegen breakage syndrome-like disorder
'Nijmegen breakage syndrome-like disorder' SubClassOf 'rare genetic developmental defect during embryogenesis'
'Nijmegen breakage syndrome-like disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0013116
congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
http://purl.obolibrary.org/obo/GARD_0010522 EquivalentTo 'congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome'
http://purl.obolibrary.org/obo/MONDO_0013110
neurodegenerative syndrome due to cerebral folate transport deficiency
http://purl.obolibrary.org/obo/GARD_0010594 EquivalentTo 'neurodegenerative syndrome due to cerebral folate transport deficiency'
http://purl.obolibrary.org/obo/MONDO_0013138
BRV2
http://purl.obolibrary.org/obo/MESH_C567749 EquivalentTo 'BRV2'
http://purl.obolibrary.org/obo/MONDO_0013131
polycystic kidney disease 2
'polycystic kidney disease 2' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C123166
http://purl.obolibrary.org/obo/MONDO_0013144
antithrombin III deficiency
http://purl.obolibrary.org/obo/GARD_0006148 EquivalentTo 'antithrombin III deficiency'
http://purl.obolibrary.org/obo/MONDO_0013166
GABA aminotransferase deficiency
http://purl.obolibrary.org/obo/GARD_0000194 EquivalentTo 'GABA aminotransferase deficiency'
'GABA aminotransferase deficiency' SubClassOf 'disease disrupting molecular activity'
'GABA aminotransferase deficiency' SubClassOf 'disease caused by disruption of' some http://purl.obolibrary.org/obo/GO_0003867
http://purl.obolibrary.org/obo/MONDO_0013167
PARK16
http://purl.obolibrary.org/obo/MESH_C567726 EquivalentTo 'PARK16'
http://purl.obolibrary.org/obo/MONDO_0013161
autosomal recessive limb-girdle muscular dystrophy type 2O
http://purl.obolibrary.org/obo/GARD_0012540 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2O'
http://purl.obolibrary.org/obo/MONDO_0013162
autosomal recessive limb-girdle muscular dystrophy type 2N
http://purl.obolibrary.org/obo/GARD_0012539 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2N'
http://purl.obolibrary.org/obo/MONDO_0013177
congenital muscular dystrophy due to integrin alpha-7 deficiency
http://purl.obolibrary.org/obo/GARD_0012587 EquivalentTo 'congenital muscular dystrophy due to integrin alpha-7 deficiency'
http://purl.obolibrary.org/obo/MONDO_0013187
factor Xiii, a subunit, deficiency of
'factor Xiii, a subunit, deficiency of' SubClassOf 'congenital factor XIII deficiency'
'factor Xiii, a subunit, deficiency of' EquivalentTo http://purl.obolibrary.org/obo/SCTID_439455002
'factor Xiii, a subunit, deficiency of' SubClassOf 'congenital factor XIII deficiency'
http://purl.obolibrary.org/obo/MONDO_0013184
congenital diarrhea 5 with tufting enteropathy
http://purl.obolibrary.org/obo/GARD_0010630 EquivalentTo 'congenital diarrhea 5 with tufting enteropathy'
http://purl.obolibrary.org/obo/MONDO_0013199
tuberous sclerosis 2
'tuberous sclerosis 2' SubClassOf 'eyelid degenerative disease'
http://purl.obolibrary.org/obo/GARD_0005381 EquivalentTo 'tuberous sclerosis 2'
http://purl.obolibrary.org/obo/GARD_0006752
http://purl.obolibrary.org/obo/GARD_0006752 EquivalentTo 'autosomal dominant ichthyosis vulgaris'
http://purl.obolibrary.org/obo/GARD_0006752 EquivalentTo 'ichthyosis vulgaris'
http://purl.obolibrary.org/obo/MONDO_0003801
corneal intraepithelial neoplasm
'corneal intraepithelial neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_420835009
http://purl.obolibrary.org/obo/MONDO_0003806
thyroid hyalinizing trabecular adenoma
'thyroid hyalinizing trabecular adenoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000588
http://purl.obolibrary.org/obo/MONDO_0003811
ovarian seromucinous tumor
'ovarian seromucinous tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000425
http://purl.obolibrary.org/obo/MONDO_0003816
articular cartilage disease
'articular cartilage disease' SubClassOf 'arthropathy'
'articular cartilage disease' SubClassOf 'cartilage disease'
'articular cartilage disease' SubClassOf 'arthropathy'
'articular cartilage disease' SubClassOf 'cartilage disease'
http://purl.obolibrary.org/obo/MONDO_0003825
kidney oncocytoma
'kidney oncocytoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000315
http://purl.obolibrary.org/obo/MONDO_0003834
gastric cardia carcinoma
'gastric cardia carcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001252
http://purl.obolibrary.org/obo/MONDO_0003842
childhood cerebellar astrocytic neoplasm
http://purl.obolibrary.org/obo/GARD_0009301 EquivalentTo 'childhood cerebellar astrocytic neoplasm'
http://purl.obolibrary.org/obo/MONDO_0003846
viral esophagitis
'viral esophagitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
http://purl.obolibrary.org/obo/MONDO_0003865
acral lentiginous melanoma (disease)
http://purl.obolibrary.org/obo/GARD_0009570 EquivalentTo 'acral lentiginous melanoma (disease)'
http://purl.obolibrary.org/obo/MONDO_0003867
diffuse meningeal melanocytosis
'diffuse meningeal melanocytosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000216
http://purl.obolibrary.org/obo/MONDO_0013208
cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
http://purl.obolibrary.org/obo/GARD_0010706 EquivalentTo 'cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome'
http://purl.obolibrary.org/obo/MONDO_0013212
Charcot-Marie-tooth disease axonal type 2N
http://purl.obolibrary.org/obo/GARD_0012429 EquivalentTo 'Charcot-Marie-tooth disease axonal type 2N'
http://purl.obolibrary.org/obo/MONDO_0013227
congenital plasminogen activator inhibitor type 1 deficiency
http://purl.obolibrary.org/obo/GARD_0004381 EquivalentTo 'congenital plasminogen activator inhibitor type 1 deficiency'
http://purl.obolibrary.org/obo/MONDO_0013225
congenital generalized lipodystrophy type 4
http://purl.obolibrary.org/obo/MESH_C567642 EquivalentTo 'congenital generalized lipodystrophy type 4'
http://purl.obolibrary.org/obo/GARD_0010937 EquivalentTo 'congenital generalized lipodystrophy type 4'
http://purl.obolibrary.org/obo/MONDO_0013226
combined immunodeficiency with faciooculoskeletal anomalies
'combined immunodeficiency with faciooculoskeletal anomalies' SubClassOf 'rare genetic developmental defect during embryogenesis'
'combined immunodeficiency with faciooculoskeletal anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0008504
supravalvular aortic stenosis (disease)
http://purl.obolibrary.org/obo/GARD_0000743 EquivalentTo 'supravalvular aortic stenosis (disease)'
http://purl.obolibrary.org/obo/MONDO_0008501
Sturge-Weber syndrome
'Sturge-Weber syndrome' SubClassOf 'Parkes Weber syndrome'
'Sturge-Weber syndrome' SubClassOf 'rare genetic bone disease'
'Sturge-Weber syndrome' SubClassOf 'rare genetic skin vascular disorder'
http://purl.obolibrary.org/obo/MONDO_0008519
multiple synostoses syndrome 1
http://purl.obolibrary.org/obo/GARD_0003836 EquivalentTo 'multiple synostoses syndrome 1'
http://purl.obolibrary.org/obo/MONDO_0008518
calcaneonavicular coalition
http://purl.obolibrary.org/obo/GARD_0009863 EquivalentTo 'calcaneonavicular coalition'
http://purl.obolibrary.org/obo/MONDO_0008517
syndactyly-polydactyly-ear lobe syndrome
http://purl.obolibrary.org/obo/GARD_0005090 EquivalentTo 'syndactyly-polydactyly-ear lobe syndrome'
http://purl.obolibrary.org/obo/MONDO_0008512
syndactyly type 1
http://purl.obolibrary.org/obo/GARD_0005081 EquivalentTo 'syndactyly type 1'
http://purl.obolibrary.org/obo/MONDO_0008511
proximal symphalangism (disease)
http://purl.obolibrary.org/obo/GARD_0008182 EquivalentTo 'proximal symphalangism (disease)'
http://purl.obolibrary.org/obo/MONDO_0008523
Blau syndrome
http://purl.obolibrary.org/obo/MESH_C538157 EquivalentTo 'Blau syndrome'
http://purl.obolibrary.org/obo/MONDO_0008521
tarsal-carpal coalition syndrome
'tarsal-carpal coalition syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008965
http://purl.obolibrary.org/obo/MONDO_0008538
temporal arteritis
'temporal arteritis' SubClassOf 'artery disease'
http://purl.obolibrary.org/obo/GARD_0009615 EquivalentTo 'temporal arteritis'
'temporal arteritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043494
http://purl.obolibrary.org/obo/MONDO_0008546
thanatophoric dysplasia type 1
http://purl.obolibrary.org/obo/GARD_0009295 EquivalentTo 'thanatophoric dysplasia type 1'
http://purl.obolibrary.org/obo/MONDO_0008540
extensor tendons of finger anomalies
http://purl.obolibrary.org/obo/GARD_0002597 EquivalentTo 'extensor tendons of finger anomalies'
http://purl.obolibrary.org/obo/MESH_C566068 EquivalentTo 'extensor tendons of finger anomalies'
http://purl.obolibrary.org/obo/MONDO_0008559
thrombophilia due to thrombin defect
http://purl.obolibrary.org/obo/GARD_0010815 EquivalentTo 'thrombophilia due to thrombin defect'
http://purl.obolibrary.org/obo/MONDO_0008558
autoimmune thrombocytopenic purpura
http://purl.obolibrary.org/obo/GARD_0005194 EquivalentTo 'autoimmune thrombocytopenic purpura'
http://purl.obolibrary.org/obo/MONDO_0008551
thoracolaryngopelvic dysplasia
http://purl.obolibrary.org/obo/GARD_0005184 EquivalentTo 'thoracolaryngopelvic dysplasia'
'thoracolaryngopelvic dysplasia' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0008566
thyroid cancer, nonmedullary, 2
http://purl.obolibrary.org/obo/GARD_0005206 EquivalentTo 'thyroid cancer, nonmedullary, 2'
http://purl.obolibrary.org/obo/MESH_C572845 EquivalentTo 'thyroid cancer, nonmedullary, 2'
http://purl.obolibrary.org/obo/MONDO_0008563
thumb stiffness-brachydactyly-intellectual disability syndrome
http://purl.obolibrary.org/obo/GARD_0005200 EquivalentTo 'thumb stiffness-brachydactyly-intellectual disability syndrome'
http://purl.obolibrary.org/obo/MONDO_0008562
thumb deformity-alopecia-pigmentation anomaly syndrome
http://purl.obolibrary.org/obo/GARD_0005199 EquivalentTo 'thumb deformity-alopecia-pigmentation anomaly syndrome'
http://purl.obolibrary.org/obo/MONDO_0008561
thumb deformity (disease)
http://purl.obolibrary.org/obo/GARD_0008482 EquivalentTo 'thumb deformity (disease)'
http://purl.obolibrary.org/obo/MONDO_0008587
Tracheobronchopathia osteochondroplastica
'Tracheobronchopathia osteochondroplastica' EquivalentTo http://purl.obolibrary.org/obo/SCTID_54675009
http://purl.obolibrary.org/obo/GARD_0005235 EquivalentTo 'Tracheobronchopathia osteochondroplastica'
http://purl.obolibrary.org/obo/MONDO_0008586
esophageal atresia/tracheoesophageal fistula
http://purl.obolibrary.org/obo/GARD_0007792 EquivalentTo 'esophageal atresia/tracheoesophageal fistula'
http://purl.obolibrary.org/obo/MONDO_0008583
inherited torticollis (disease)
'inherited torticollis (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C4811
http://purl.obolibrary.org/obo/MONDO_0008582
tooth and nail syndrome
http://purl.obolibrary.org/obo/GARD_0005587 EquivalentTo 'tooth and nail syndrome'
http://purl.obolibrary.org/obo/MONDO_0008592
Tricho-dento-osseous syndrome
http://purl.obolibrary.org/obo/GARD_0005252 EquivalentTo 'Tricho-dento-osseous syndrome'
'Tricho-dento-osseous syndrome' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0008591
tremor-nystagmus-duodenal ulcer syndrome
http://purl.obolibrary.org/obo/GARD_0003948 EquivalentTo 'tremor-nystagmus-duodenal ulcer syndrome'
http://purl.obolibrary.org/obo/MONDO_0008590
tremor, hereditary essential, 1
http://purl.obolibrary.org/obo/GARD_0005244 EquivalentTo 'tremor, hereditary essential, 1'
http://purl.obolibrary.org/obo/MONDO_0008598
trichodysplasia-xeroderma syndrome
http://purl.obolibrary.org/obo/GARD_0005261 EquivalentTo 'trichodysplasia-xeroderma syndrome'
http://purl.obolibrary.org/obo/MONDO_0008597
trichorhinophalangeal syndrome, type 3
http://purl.obolibrary.org/obo/GARD_0007802 EquivalentTo 'trichorhinophalangeal syndrome, type 3'
http://purl.obolibrary.org/obo/MONDO_0008596
trichorhinophalangeal syndrome type i
http://purl.obolibrary.org/obo/GARD_0007800 EquivalentTo 'trichorhinophalangeal syndrome type i'
http://purl.obolibrary.org/obo/MONDO_0008594
FMDF
http://purl.obolibrary.org/obo/GARD_0008479 EquivalentTo 'FMDF'
http://purl.obolibrary.org/obo/MONDO_0008409
MYH7-related late-onset scapuloperoneal muscular dystrophy
http://purl.obolibrary.org/obo/GARD_0010313 EquivalentTo 'MYH7-related late-onset scapuloperoneal muscular dystrophy'
http://purl.obolibrary.org/obo/MONDO_0008408
scapuloperoneal spinal muscular atrophy
http://purl.obolibrary.org/obo/GARD_0010314 EquivalentTo 'scapuloperoneal spinal muscular atrophy'
'scapuloperoneal spinal muscular atrophy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001992
http://purl.obolibrary.org/obo/MONDO_0008404
scalp-ear-nipple syndrome
http://purl.obolibrary.org/obo/GARD_0000159 EquivalentTo 'scalp-ear-nipple syndrome'
'scalp-ear-nipple syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0008403
scalp defects-postaxial polydactyly syndrome
http://purl.obolibrary.org/obo/GARD_0000241 EquivalentTo 'scalp defects-postaxial polydactyly syndrome'
http://purl.obolibrary.org/obo/MONDO_0008402
cleft palate-large ears-small head syndrome
http://purl.obolibrary.org/obo/GARD_0000162 EquivalentTo 'cleft palate-large ears-small head syndrome'
http://purl.obolibrary.org/obo/MONDO_0008401
pleomorphic adenoma
'pleomorphic adenoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000384
http://purl.obolibrary.org/obo/MONDO_0008412
intestinal schistosomiasis
'intestinal schistosomiasis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001419
http://purl.obolibrary.org/obo/MONDO_0008411
ulnar-mammary syndrome
'ulnar-mammary syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0008410
Scheuermann disease
'Scheuermann disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008576
http://purl.obolibrary.org/obo/GARD_0007610 EquivalentTo 'Scheuermann disease'
http://purl.obolibrary.org/obo/MONDO_0008429
Singleton-Merten dysplasia
'Singleton-Merten dysplasia' EquivalentTo http://purl.obolibrary.org/obo/OMIMPS_182250
'Singleton-Merten dysplasia' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/GARD_0000122 EquivalentTo 'Singleton-Merten dysplasia'
'Singleton-Merten dysplasia' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/DC_0000703 EquivalentTo 'Singleton-Merten dysplasia'
http://purl.obolibrary.org/obo/MONDO_0008428
septooptic dysplasia
http://purl.obolibrary.org/obo/GARD_0007627 EquivalentTo 'septooptic dysplasia'
http://purl.obolibrary.org/obo/MONDO_0008426
Shprintzen-Goldberg syndrome
'Shprintzen-Goldberg syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C124840
http://purl.obolibrary.org/obo/GARD_0004861 EquivalentTo 'Shprintzen-Goldberg syndrome'
http://purl.obolibrary.org/obo/MONDO_0008425
omphalocele syndrome, Shprintzen-Goldberg type
http://purl.obolibrary.org/obo/GARD_0009850 EquivalentTo 'omphalocele syndrome, Shprintzen-Goldberg type'
http://purl.obolibrary.org/obo/MONDO_0008421
flat face-microstomia-ear anomaly syndrome
'flat face-microstomia-ear anomaly syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'flat face-microstomia-ear anomaly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0004873 EquivalentTo 'flat face-microstomia-ear anomaly syndrome'
http://purl.obolibrary.org/obo/SCTID_255031003
'anaplastic thyroid carcinoma (disease)' EquivalentTo http://purl.obolibrary.org/obo/SCTID_255031003
'thyroid gland undifferentiated (anaplastic) carcinoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_255031003
http://purl.obolibrary.org/obo/MONDO_0008439
spastic paraplegia-epilepsy-intellectual disability syndrome
http://purl.obolibrary.org/obo/GARD_0004915 EquivalentTo 'spastic paraplegia-epilepsy-intellectual disability syndrome'
http://purl.obolibrary.org/obo/MESH_C536869 EquivalentTo 'spastic paraplegia-epilepsy-intellectual disability syndrome'
http://purl.obolibrary.org/obo/MONDO_0008438
hereditary spastic paraplegia 4
http://purl.obolibrary.org/obo/GARD_0004925 EquivalentTo 'hereditary spastic paraplegia 4'
http://purl.obolibrary.org/obo/MONDO_0008437
hereditary spastic paraplegia 3A
http://purl.obolibrary.org/obo/GARD_0005041 EquivalentTo 'hereditary spastic paraplegia 3A'
http://purl.obolibrary.org/obo/MONDO_0008436
Sneddon syndrome
'Sneddon syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0008434
Smith-Magenis syndrome
http://purl.obolibrary.org/obo/GARD_0008197 EquivalentTo 'Smith-Magenis syndrome'
http://purl.obolibrary.org/obo/MONDO_0008445
delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
http://purl.obolibrary.org/obo/GARD_0003449 EquivalentTo 'delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome'
http://purl.obolibrary.org/obo/MONDO_0008443
spastic paraplegia-precocious puberty syndrome
http://purl.obolibrary.org/obo/GARD_0004918 EquivalentTo 'spastic paraplegia-precocious puberty syndrome'
http://purl.obolibrary.org/obo/MONDO_0008442
spastic paraplegia-neuropathy-poikiloderma syndrome
http://purl.obolibrary.org/obo/GARD_0004921 EquivalentTo 'spastic paraplegia-neuropathy-poikiloderma syndrome'
http://purl.obolibrary.org/obo/MONDO_0008458
spinocerebellar ataxia type 2
http://purl.obolibrary.org/obo/GARD_0004072 EquivalentTo 'spinocerebellar ataxia type 2'
http://purl.obolibrary.org/obo/MONDO_0008460
splenogonadal fusion-limb defects-micrognathia syndrome
http://purl.obolibrary.org/obo/GARD_0004963 EquivalentTo 'splenogonadal fusion-limb defects-micrognathia syndrome'
http://purl.obolibrary.org/obo/MONDO_0008469
spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
http://purl.obolibrary.org/obo/GARD_0010101 EquivalentTo 'spondyloepimetaphyseal dysplasia-hypotrichosis syndrome'
http://purl.obolibrary.org/obo/MONDO_0008467
Czeizel-Losonci syndrome
'Czeizel-Losonci syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0004969 EquivalentTo 'Czeizel-Losonci syndrome'
http://purl.obolibrary.org/obo/MONDO_0008466
Karsch-Neugebauer syndrome
http://purl.obolibrary.org/obo/GARD_0004967 EquivalentTo 'Karsch-Neugebauer syndrome'
http://purl.obolibrary.org/obo/MONDO_0008479
spondylometaphyseal dysplasia, 'corner fracture' type
'spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0008478
spondylometaphyseal dysplasia, Schmidt type
'spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/GARD_0000504 EquivalentTo 'spondylometaphyseal dysplasia, Schmidt type'
http://purl.obolibrary.org/obo/MONDO_0008477
spondylometaphyseal dysplasia, Kozlowski type
'spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0008476
spondyloepimetaphyseal dysplasia, Strudwick type
'spondyloepimetaphyseal dysplasia, Strudwick type' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0008473
spondyloepiphyseal dysplasia, Maroteaux type
http://purl.obolibrary.org/obo/GARD_0000994 EquivalentTo 'spondyloepiphyseal dysplasia, Maroteaux type'
http://purl.obolibrary.org/obo/MONDO_0008472
spondyloepiphyseal dysplasia, MacDermot type
'spondyloepiphyseal dysplasia, MacDermot type' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0008482
sprengel deformity (disease)
http://purl.obolibrary.org/obo/GARD_0007693 EquivalentTo 'sprengel deformity (disease)'
http://purl.obolibrary.org/obo/MONDO_0008480
Odontochondrodysplasia
http://purl.obolibrary.org/obo/GARD_0008717 EquivalentTo 'Odontochondrodysplasia'
http://purl.obolibrary.org/obo/MONDO_0008486
steatocystoma multiplex-natal teeth syndrome
http://purl.obolibrary.org/obo/GARD_0005004 EquivalentTo 'steatocystoma multiplex-natal teeth syndrome'
http://purl.obolibrary.org/obo/MONDO_0008485
Sebocystomatosis
http://purl.obolibrary.org/obo/GARD_0005003 EquivalentTo 'Sebocystomatosis'
http://purl.obolibrary.org/obo/MONDO_0008493
overhydrated hereditary stomatocytosis
http://purl.obolibrary.org/obo/GARD_0004183 EquivalentTo 'overhydrated hereditary stomatocytosis'
http://purl.obolibrary.org/obo/MONDO_0008491
stiff-person syndrome
http://purl.obolibrary.org/obo/GARD_0005023 EquivalentTo 'stiff-person syndrome'
http://purl.obolibrary.org/obo/MONDO_0008490
Stickler syndrome type 3
'Stickler syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0008499
short stature-wormian bones-dextrocardia syndrome
'short stature-wormian bones-dextrocardia syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'short stature-wormian bones-dextrocardia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/GARD_0004856 EquivalentTo 'short stature-wormian bones-dextrocardia syndrome'
http://purl.obolibrary.org/obo/MONDO_0008497
Stormorken syndrome
http://purl.obolibrary.org/obo/GARD_0005188 EquivalentTo 'Stormorken syndrome'
http://purl.obolibrary.org/obo/MONDO_0008494
hereditary cryohydrocytosis with normal stomatin
http://purl.obolibrary.org/obo/GARD_0010184 EquivalentTo 'hereditary cryohydrocytosis with normal stomatin'
http://purl.obolibrary.org/obo/MONDO_0008308
priapism, familial idiopathic
http://purl.obolibrary.org/obo/GARD_0010016 EquivalentTo 'priapism, familial idiopathic'
http://purl.obolibrary.org/obo/MONDO_0008305
Currarino triad
http://purl.obolibrary.org/obo/GARD_0001626 EquivalentTo 'Currarino triad'
http://purl.obolibrary.org/obo/MONDO_0008303
familial male-limited precocious puberty
http://purl.obolibrary.org/obo/GARD_0004475 EquivalentTo 'familial male-limited precocious puberty'
http://purl.obolibrary.org/obo/MONDO_0008301
Guttmacher syndrome
http://purl.obolibrary.org/obo/GARD_0004470 EquivalentTo 'Guttmacher syndrome'
http://purl.obolibrary.org/obo/MONDO_0008300
Prader-Willi syndrome
'Prader-Willi syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0008319
protoporphyria, erythropoietic
http://purl.obolibrary.org/obo/GARD_0004527 EquivalentTo 'protoporphyria, erythropoietic'
http://purl.obolibrary.org/obo/MONDO_0008318
Proteus syndrome
'Proteus syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/GARD_0007475 EquivalentTo 'Proteus syndrome'
http://purl.obolibrary.org/obo/MONDO_0008312
autosomal dominant prognathism
'autosomal dominant prognathism' SubClassOf 'rare genetic developmental defect during embryogenesis'
'autosomal dominant prognathism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0010319 EquivalentTo 'autosomal dominant prognathism'
http://purl.obolibrary.org/obo/MONDO_0008311
progeria-short stature-pigmented nevi syndrome
http://purl.obolibrary.org/obo/GARD_0004494 EquivalentTo 'progeria-short stature-pigmented nevi syndrome'
http://purl.obolibrary.org/obo/MONDO_0008310
progeria
'progeria' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0008339
antecubital pterygium syndrome
http://purl.obolibrary.org/obo/GARD_0004570 EquivalentTo 'antecubital pterygium syndrome'
http://purl.obolibrary.org/obo/MONDO_0008337
familial pterygium of the conjunctiva
http://purl.obolibrary.org/obo/GARD_0004569 EquivalentTo 'familial pterygium of the conjunctiva'
http://purl.obolibrary.org/obo/MONDO_0008335
short stature-craniofacial anomalies-genital hypoplasia syndrome
'short stature-craniofacial anomalies-genital hypoplasia syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/GARD_0002605 EquivalentTo 'short stature-craniofacial anomalies-genital hypoplasia syndrome'
'short stature-craniofacial anomalies-genital hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0008332
pseudo-von Willebrand disease
http://purl.obolibrary.org/obo/GARD_0008312 EquivalentTo 'pseudo-von Willebrand disease'
http://purl.obolibrary.org/obo/MONDO_0008346
pulmonary hemosiderosis
http://purl.obolibrary.org/obo/GARD_0006763 EquivalentTo 'pulmonary hemosiderosis'
http://purl.obolibrary.org/obo/MONDO_0008344
pulmonary edema of mountaineers, susceptibility to
http://purl.obolibrary.org/obo/GARD_0008348 EquivalentTo 'pulmonary edema of mountaineers, susceptibility to'
http://purl.obolibrary.org/obo/MONDO_0008341
ptosis-strabismus-ectopic pupils syndrome
http://purl.obolibrary.org/obo/GARD_0004577 EquivalentTo 'ptosis-strabismus-ectopic pupils syndrome'
http://purl.obolibrary.org/obo/MONDO_0008340
congenital ptosis (disease)
'congenital ptosis (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C27049
http://purl.obolibrary.org/obo/MESH_C566737 EquivalentTo 'congenital ptosis (disease)'
http://purl.obolibrary.org/obo/MONDO_0008358
radial ray hypoplasia-choanal atresia syndrome
http://purl.obolibrary.org/obo/GARD_0004627 EquivalentTo 'radial ray hypoplasia-choanal atresia syndrome'
http://purl.obolibrary.org/obo/MONDO_0008357
radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
http://purl.obolibrary.org/obo/GARD_0004626 EquivalentTo 'radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome'
'radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0008353
pruritic urticarial papules and plaques of pregnancy
http://purl.obolibrary.org/obo/GARD_0009635 EquivalentTo 'pruritic urticarial papules and plaques of pregnancy'
http://purl.obolibrary.org/obo/MONDO_0008368
autosomal dominant distal renal tubular acidosis
http://purl.obolibrary.org/obo/GARD_0004668 EquivalentTo 'autosomal dominant distal renal tubular acidosis'
http://purl.obolibrary.org/obo/MONDO_0008365
recombinant 8 syndrome
http://purl.obolibrary.org/obo/GARD_0009698 EquivalentTo 'recombinant 8 syndrome'
http://purl.obolibrary.org/obo/MONDO_0008371
Dowling-Degos disease
http://purl.obolibrary.org/obo/GARD_0009775 EquivalentTo 'Dowling-Degos disease'
http://purl.obolibrary.org/obo/MONDO_0008370
reticular dystrophy of retinal pigment epithelium
http://purl.obolibrary.org/obo/MESH_C566721 EquivalentTo 'reticular dystrophy of retinal pigment epithelium'
http://purl.obolibrary.org/obo/MONDO_0008377
retinitis pigmentosa 1
http://purl.obolibrary.org/obo/GARD_0009149 EquivalentTo 'retinitis pigmentosa 1'
http://purl.obolibrary.org/obo/MONDO_0008374
retinal cone dystrophy type 1
http://purl.obolibrary.org/obo/GARD_0003196 EquivalentTo 'retinal cone dystrophy type 1'
http://purl.obolibrary.org/obo/MONDO_0008380
retinoblastoma
http://purl.obolibrary.org/obo/GARD_0007563 EquivalentTo 'retinoblastoma'
http://purl.obolibrary.org/obo/MONDO_0008388
ringed hair disease
http://purl.obolibrary.org/obo/GARD_0004359 EquivalentTo 'ringed hair disease'
http://purl.obolibrary.org/obo/MONDO_0008394
Silver-Russell syndrome
http://purl.obolibrary.org/obo/GARD_0004870 EquivalentTo 'Silver-Russell syndrome'
'Silver-Russell syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0008392
Roussy-LC)vy syndrome
http://purl.obolibrary.org/obo/GARD_0004741 EquivalentTo 'Roussy-LC)vy syndrome'
http://purl.obolibrary.org/obo/MONDO_0008391
Robinow-Sorauf syndrome
'Robinow-Sorauf syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_3106
http://purl.obolibrary.org/obo/MONDO_0008397
aplasia of lacrimal and salivary glands
'aplasia of lacrimal and salivary glands' EquivalentTo http://purl.obolibrary.org/obo/SCTID_715656004
http://purl.obolibrary.org/obo/MONDO_0008396
Oculodental syndrome, Rutherfurd type
http://purl.obolibrary.org/obo/GARD_0000212 EquivalentTo 'Oculodental syndrome, Rutherfurd type'
http://linkedlifedata.com/resource/umls/id/C3665365
http://linkedlifedata.com/resource/umls/id/C3665365 EquivalentTo 'arteriosclerotic cardiovascular disease'
http://linkedlifedata.com/resource/umls/id/C3665365 EquivalentTo 'arteriosclerosis (disease)'
http://purl.obolibrary.org/obo/MONDO_0008209
Char syndrome
'Char syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
'Char syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0008206
benign paroxysmal tonic upgaze of childhood with ataxia
http://purl.obolibrary.org/obo/GARD_0004176 EquivalentTo 'benign paroxysmal tonic upgaze of childhood with ataxia'
http://purl.obolibrary.org/obo/MONDO_0008205
patella aplasia/hypoplasia
http://purl.obolibrary.org/obo/GARD_0008709 EquivalentTo 'patella aplasia/hypoplasia'
http://purl.obolibrary.org/obo/MONDO_0008219
pemphigus vulgaris
http://purl.obolibrary.org/obo/GARD_0004270 EquivalentTo 'pemphigus vulgaris'
http://purl.obolibrary.org/obo/GARD_0007355 EquivalentTo 'pemphigus vulgaris'
http://purl.obolibrary.org/obo/MONDO_0008215
adult-onset autosomal dominant demyelinating leukodystrophy
http://purl.obolibrary.org/obo/GARD_0010587 EquivalentTo 'adult-onset autosomal dominant demyelinating leukodystrophy'
http://purl.obolibrary.org/obo/MONDO_0008214
Pelger-Huet anomaly
http://purl.obolibrary.org/obo/GARD_0009148 EquivalentTo 'Pelger-Huet anomaly'
http://purl.obolibrary.org/obo/MONDO_0008211
pseudoleprechaunism syndrome, Patterson type
http://purl.obolibrary.org/obo/GARD_0004259 EquivalentTo 'pseudoleprechaunism syndrome, Patterson type'
http://purl.obolibrary.org/obo/MONDO_0008210
patterned macular dystrophy 1
http://purl.obolibrary.org/obo/GARD_0009821 EquivalentTo 'patterned macular dystrophy 1'
http://purl.obolibrary.org/obo/MONDO_0008225
normokalemic periodic paralysis
http://purl.obolibrary.org/obo/GARD_0004009 EquivalentTo 'normokalemic periodic paralysis'
http://purl.obolibrary.org/obo/MONDO_0008224
hyperkalemic periodic paralysis
http://purl.obolibrary.org/obo/GARD_0000195 EquivalentTo 'hyperkalemic periodic paralysis'
http://purl.obolibrary.org/obo/MONDO_0008223
hypokalemic periodic paralysis
'hypokalemic periodic paralysis' EquivalentTo http://purl.obolibrary.org/obo/OMIM_170400
'hypokalemic periodic paralysis' SubClassOf 'familial periodic paralysis'
'hypokalemic periodic paralysis' SubClassOf 'familial periodic paralysis'
http://purl.obolibrary.org/obo/MONDO_0008222
Andersen-Tawil syndrome
http://purl.obolibrary.org/obo/GARD_0009453 EquivalentTo 'Andersen-Tawil syndrome'
http://purl.obolibrary.org/obo/MONDO_0008221
Prolidase deficiency
'Prolidase deficiency' EquivalentTo http://purl.obolibrary.org/obo/SCTID_410055005
http://purl.obolibrary.org/obo/GARD_0007473 EquivalentTo 'Prolidase deficiency'
http://purl.obolibrary.org/obo/MONDO_0008237
phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
http://purl.obolibrary.org/obo/GARD_0004323 EquivalentTo 'phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome'
http://purl.obolibrary.org/obo/MONDO_0008248
pigmented purpuric eruption
http://purl.obolibrary.org/obo/GARD_0007609 EquivalentTo 'pigmented purpuric eruption'
http://purl.obolibrary.org/obo/MONDO_0008247
robin sequence-oligodactyly syndrome
'robin sequence-oligodactyly syndrome' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/HP_0000201
http://purl.obolibrary.org/obo/GARD_0004729 EquivalentTo 'robin sequence-oligodactyly syndrome'
http://purl.obolibrary.org/obo/MONDO_0008246
pigmented paravenous retinochoroidal atrophy
http://purl.obolibrary.org/obo/MESH_C566801 EquivalentTo 'pigmented paravenous retinochoroidal atrophy'
http://purl.obolibrary.org/obo/MONDO_0008245
piebald trait-neurologic defects syndrome
http://purl.obolibrary.org/obo/GARD_0005133 EquivalentTo 'piebald trait-neurologic defects syndrome'
http://purl.obolibrary.org/obo/MONDO_0008244
piebaldism
'piebaldism' SubClassOf 'rare genetic skin disease'
http://purl.obolibrary.org/obo/MONDO_0008243
Pick disease
http://purl.obolibrary.org/obo/GARD_0007392 EquivalentTo 'Pick disease'
http://purl.obolibrary.org/obo/MONDO_0008242
photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction
http://purl.obolibrary.org/obo/GARD_0009267 EquivalentTo 'photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction'
http://purl.obolibrary.org/obo/MONDO_0008259
familial spontaneous pneumothorax
http://purl.obolibrary.org/obo/GARD_0004997 EquivalentTo 'familial spontaneous pneumothorax'
http://purl.obolibrary.org/obo/MONDO_0008260
Kindler syndrome
http://purl.obolibrary.org/obo/GARD_0004391 EquivalentTo 'Kindler syndrome'
http://purl.obolibrary.org/obo/MESH_C536321 EquivalentTo 'Kindler syndrome'
http://purl.obolibrary.org/obo/MONDO_0008269
polydactyly of a biphalangeal thumb
http://purl.obolibrary.org/obo/GARD_0004417 EquivalentTo 'polydactyly of a biphalangeal thumb'
http://purl.obolibrary.org/obo/MONDO_0008265
isolated polycystic liver disease
http://purl.obolibrary.org/obo/GARD_0009457 EquivalentTo 'isolated polycystic liver disease'
http://purl.obolibrary.org/obo/MONDO_0008264
autosomal dominant medullary cystic kidney disease with or without hyperuricemia
http://linkedlifedata.com/resource/umls/id/C4054549 EquivalentTo 'autosomal dominant medullary cystic kidney disease with or without hyperuricemia'
http://purl.obolibrary.org/obo/MEDGEN_881357 EquivalentTo 'autosomal dominant medullary cystic kidney disease with or without hyperuricemia'
http://linkedlifedata.com/resource/umls/id/C1868139 EquivalentTo 'autosomal dominant medullary cystic kidney disease with or without hyperuricemia'
http://purl.obolibrary.org/obo/MEDGEN_358137 EquivalentTo 'autosomal dominant medullary cystic kidney disease with or without hyperuricemia'
'autosomal dominant medullary cystic kidney disease with or without hyperuricemia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008617
http://purl.obolibrary.org/obo/MONDO_0008272
polysyndactyly
http://purl.obolibrary.org/obo/GARD_0009903 EquivalentTo 'polysyndactyly'
http://purl.obolibrary.org/obo/MONDO_0008271
polydactyly of an index finger
http://purl.obolibrary.org/obo/GARD_0002256 EquivalentTo 'polydactyly of an index finger'
http://purl.obolibrary.org/obo/MONDO_0008270
polydactyly of a triphalangeal thumb
http://purl.obolibrary.org/obo/GARD_0005289 EquivalentTo 'polydactyly of a triphalangeal thumb'
http://purl.obolibrary.org/obo/MONDO_0008275
familial expansile osteolysis
http://purl.obolibrary.org/obo/GARD_0009168 EquivalentTo 'familial expansile osteolysis'
http://purl.obolibrary.org/obo/MONDO_0008274
polyostotic fibrous dysplasia
'polyostotic fibrous dysplasia' SubClassOf 'rare genetic developmental defect during embryogenesis'
'polyostotic fibrous dysplasia' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0008287
Greig cephalopolysyndactyly syndrome
'Greig cephalopolysyndactyly syndrome' SubClassOf 'acrocephalosyndactyly'
http://purl.obolibrary.org/obo/MONDO_0008294
acute intermittent porphyria
'acute intermittent porphyria' SubClassOf 'hepatic porphyria'
'acute intermittent porphyria' SubClassOf 'hepatic porphyria'
http://purl.obolibrary.org/obo/GARD_0005732 EquivalentTo 'acute intermittent porphyria'
http://purl.obolibrary.org/obo/MONDO_0008293
porokeratosis 3, disseminated superficial actinic type
http://purl.obolibrary.org/obo/GARD_0009505 EquivalentTo 'porokeratosis 3, disseminated superficial actinic type'
http://purl.obolibrary.org/obo/MONDO_0008292
punctate palmoplantar keratoderma type 2
http://purl.obolibrary.org/obo/GARD_0004439 EquivalentTo 'punctate palmoplantar keratoderma type 2'
http://purl.obolibrary.org/obo/MONDO_0008297
variegate porphyria
'variegate porphyria' SubClassOf 'hepatic porphyria'
'variegate porphyria' SubClassOf 'hepatic porphyria'
http://purl.obolibrary.org/obo/DOID_8991
http://purl.obolibrary.org/obo/DOID_8991 EquivalentTo 'cervix uteri carcinoma in situ'
http://purl.obolibrary.org/obo/DOID_8991 EquivalentTo http://purl.obolibrary.org/obo/MONDO_0042487
http://purl.obolibrary.org/obo/MONDO_0023726
mediastinal yolk sac tumor
http://purl.obolibrary.org/obo/GARD_0008258 EquivalentTo 'mediastinal yolk sac tumor'
http://purl.obolibrary.org/obo/MONDO_0008109
ocular cicatricial pemphigoid
'ocular cicatricial pemphigoid' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008610
http://purl.obolibrary.org/obo/MONDO_0008106
NYS2
http://purl.obolibrary.org/obo/GARD_0009599 EquivalentTo 'NYS2'
http://purl.obolibrary.org/obo/MONDO_0008105
nose, anomalous shape of
http://purl.obolibrary.org/obo/GARD_0010040 EquivalentTo 'nose, anomalous shape of'
http://purl.obolibrary.org/obo/MONDO_0008119
spinocerebellar ataxia type 1
http://purl.obolibrary.org/obo/GARD_0004071 EquivalentTo 'spinocerebellar ataxia type 1'
http://purl.obolibrary.org/obo/MONDO_0008118
Odontomatosis-aortae esophagus stenosis syndrome
http://purl.obolibrary.org/obo/GARD_0000238 EquivalentTo 'Odontomatosis-aortae esophagus stenosis syndrome'
http://purl.obolibrary.org/obo/MONDO_0008113
Schilbach-Rott syndrome
'Schilbach-Rott syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0008112
Goldenhar syndrome
http://purl.obolibrary.org/obo/GARD_0006540 EquivalentTo 'Goldenhar syndrome'
http://purl.obolibrary.org/obo/MONDO_0008111
oculodentodigital dysplasia
'oculodentodigital dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
'oculodentodigital dysplasia' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0008127
Ophthalmomandibulomelic dysplasia
http://purl.obolibrary.org/obo/GARD_0004365 EquivalentTo 'Ophthalmomandibulomelic dysplasia'
http://purl.obolibrary.org/obo/MONDO_0008124
omphalocele, autosomal
http://purl.obolibrary.org/obo/GARD_0004218 EquivalentTo 'omphalocele, autosomal'
http://purl.obolibrary.org/obo/MONDO_0008123
autosomal dominant omodysplasia
'autosomal dominant omodysplasia' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/GARD_0003643 EquivalentTo 'autosomal dominant omodysplasia'
'autosomal dominant omodysplasia' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0008120
spinocerebellar ataxia type 7
http://purl.obolibrary.org/obo/GARD_0004955 EquivalentTo 'spinocerebellar ataxia type 7'
http://purl.obolibrary.org/obo/MONDO_0008139
OSLAM syndrome
http://purl.obolibrary.org/obo/GARD_0004129 EquivalentTo 'OSLAM syndrome'
http://purl.obolibrary.org/obo/MONDO_0008136
isolated optic nerve hypoplasia
http://purl.obolibrary.org/obo/GARD_0008419 EquivalentTo 'isolated optic nerve hypoplasia'
http://purl.obolibrary.org/obo/MONDO_0008134
autosomal dominant optic atrophy, classic form
http://purl.obolibrary.org/obo/GARD_0009890 EquivalentTo 'autosomal dominant optic atrophy, classic form'
http://purl.obolibrary.org/obo/MONDO_0008148
osteogenesis imperfecta type 4
'osteogenesis imperfecta type 4' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/GARD_0008696 EquivalentTo 'osteogenesis imperfecta type 4'
'osteogenesis imperfecta type 4' EquivalentTo http://purl.obolibrary.org/obo/SCTID_205497004
http://purl.obolibrary.org/obo/MONDO_0008147
osteogenesis imperfecta type 2
http://purl.obolibrary.org/obo/GARD_0010142 EquivalentTo 'osteogenesis imperfecta type 2'
http://purl.obolibrary.org/obo/MONDO_0008146
osteogenesis imperfecta type 1
http://purl.obolibrary.org/obo/GARD_0008694 EquivalentTo 'osteogenesis imperfecta type 1'
http://purl.obolibrary.org/obo/MONDO_0008142
Thiemann disease, familial form
http://purl.obolibrary.org/obo/GARD_0004131 EquivalentTo 'Thiemann disease, familial form'
http://purl.obolibrary.org/obo/MONDO_0008152
multicentric carpo-tarsal osteolysis with or without nephropathy
http://purl.obolibrary.org/obo/GARD_0013042 EquivalentTo 'multicentric carpo-tarsal osteolysis with or without nephropathy'
http://purl.obolibrary.org/obo/MONDO_0008151
Gnathodiaphyseal dysplasia
http://purl.obolibrary.org/obo/GARD_0008698 EquivalentTo 'Gnathodiaphyseal dysplasia'
http://purl.obolibrary.org/obo/MONDO_0008150
osteoglophonic dwarfism
http://purl.obolibrary.org/obo/GARD_0004142 EquivalentTo 'osteoglophonic dwarfism'
'osteoglophonic dwarfism' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254144002
http://purl.obolibrary.org/obo/MONDO_0008158
dacryocystitis-osteopoikilosis syndrome
http://purl.obolibrary.org/obo/GARD_0000351 EquivalentTo 'dacryocystitis-osteopoikilosis syndrome'
http://purl.obolibrary.org/obo/MONDO_0008157
Buschke-Ollendorff syndrome
'Buschke-Ollendorff syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042973
'Buschke-Ollendorff syndrome' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/GARD_0001044 EquivalentTo 'Buschke-Ollendorff syndrome'
'Buschke-Ollendorff syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0008156
autosomal dominant osteopetrosis 2
'autosomal dominant osteopetrosis 2' SubClassOf 'hereditary retinal dystrophy'
http://purl.obolibrary.org/obo/GARD_0000383 EquivalentTo 'autosomal dominant osteopetrosis 2'
'autosomal dominant osteopetrosis 2' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0008153
progressive osseous heteroplasia
'progressive osseous heteroplasia' SubClassOf 'rare genetic bone disease'
'progressive osseous heteroplasia' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0008163
otofaciocervical syndrome
http://purl.obolibrary.org/obo/GARD_0004169 EquivalentTo 'otofaciocervical syndrome'
http://purl.obolibrary.org/obo/MONDO_0008161
Otodental syndrome
http://purl.obolibrary.org/obo/GARD_0004168 EquivalentTo 'Otodental syndrome'
http://purl.obolibrary.org/obo/MONDO_0008169
osteochondrodysplasia, rhizomelic, with Callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension
http://purl.obolibrary.org/obo/GARD_0002277 EquivalentTo 'osteochondrodysplasia, rhizomelic, with Callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension'
http://purl.obolibrary.org/obo/MONDO_0008168
ovarian fibroma (disease)
'ovarian fibroma (disease)' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254865006
http://purl.obolibrary.org/obo/MONDO_0008167
dermoid cyst of ovary
http://purl.obolibrary.org/obo/MESH_C562731 EquivalentTo 'dermoid cyst of ovary'
http://purl.obolibrary.org/obo/MONDO_0008170
ovarian cancer
http://purl.obolibrary.org/obo/GARD_0007295 EquivalentTo 'ovarian cancer'
http://purl.obolibrary.org/obo/MONDO_0008177
extramammary Paget disease
http://purl.obolibrary.org/obo/GARD_0004192 EquivalentTo 'extramammary Paget disease'
http://purl.obolibrary.org/obo/MONDO_0008176
Paget disease of bone 3
http://purl.obolibrary.org/obo/GARD_0004191 EquivalentTo 'Paget disease of bone 3'
http://purl.obolibrary.org/obo/MONDO_0008184
pancreas, dorsal, agenesis of
http://purl.obolibrary.org/obo/GARD_0004203 EquivalentTo 'pancreas, dorsal, agenesis of'
http://purl.obolibrary.org/obo/MONDO_0008182
nasopalpebral lipoma-coloboma syndrome
'nasopalpebral lipoma-coloboma syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0008180
congenital velopharyngeal incompetence
http://purl.obolibrary.org/obo/GARD_0005470 EquivalentTo 'congenital velopharyngeal incompetence'
http://purl.obolibrary.org/obo/MONDO_0008196
Parastremmatic dwarfism
'Parastremmatic dwarfism' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0008195
Paramyotonia congenita of von Eulenburg
http://purl.obolibrary.org/obo/GARD_0007325 EquivalentTo 'Paramyotonia congenita of von Eulenburg'
http://purl.obolibrary.org/obo/MONDO_0008192
paragangliomas 1
'paragangliomas 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0023628
levator syndrome
'levator syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C113615
http://purl.obolibrary.org/obo/MONDO_0008009
monilethrix
'monilethrix' EquivalentTo http://purl.obolibrary.org/obo/SCTID_69488000
http://purl.obolibrary.org/obo/MONDO_0008007
tooth ankylosis
http://purl.obolibrary.org/obo/GARD_0000701 EquivalentTo 'tooth ankylosis'
http://purl.obolibrary.org/obo/MONDO_0008006
Mobius syndrome
http://purl.obolibrary.org/obo/GARD_0008549 EquivalentTo 'Mobius syndrome'
'Mobius syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0008005
cardiospondylocarpofacial syndrome
http://purl.obolibrary.org/obo/GARD_0002362 EquivalentTo 'cardiospondylocarpofacial syndrome'
http://purl.obolibrary.org/obo/MESH_C563572 EquivalentTo 'cardiospondylocarpofacial syndrome'
http://purl.obolibrary.org/obo/MONDO_0008004
familial mitral valve prolapse
'familial mitral valve prolapse' SubClassOf 'inherited genetic disease'
http://purl.obolibrary.org/obo/GARD_0003687 EquivalentTo 'familial mitral valve prolapse'
'familial mitral valve prolapse' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042966
http://purl.obolibrary.org/obo/MONDO_0008000
migraine with or without aura, susceptibility to, 1
'migraine with or without aura, susceptibility to, 1' SubClassOf 'rare genetic vascular disease'
http://purl.obolibrary.org/obo/MONDO_0008018
Muir-Torre syndrome
http://purl.obolibrary.org/obo/GARD_0006821 EquivalentTo 'Muir-Torre syndrome'
http://purl.obolibrary.org/obo/MONDO_0008016
trismus-pseudocamptodactyly syndrome
http://purl.obolibrary.org/obo/GARD_0002621 EquivalentTo 'trismus-pseudocamptodactyly syndrome'
http://purl.obolibrary.org/obo/MESH_C535857 EquivalentTo 'trismus-pseudocamptodactyly syndrome'
http://purl.obolibrary.org/obo/MONDO_0008015
motion sickness
'motion sickness' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0006928
http://purl.obolibrary.org/obo/MONDO_0008013
chromosome 9p deletion syndrome
http://purl.obolibrary.org/obo/GARD_0003773 EquivalentTo 'chromosome 9p deletion syndrome'
http://purl.obolibrary.org/obo/MONDO_0008020
multiple exostoses with spastic Tetraparesis
http://purl.obolibrary.org/obo/GARD_0000291 EquivalentTo 'multiple exostoses with spastic Tetraparesis'
http://purl.obolibrary.org/obo/MONDO_0008029
Bethlem myopathy
http://purl.obolibrary.org/obo/GARD_0000873 EquivalentTo 'Bethlem myopathy'
http://purl.obolibrary.org/obo/MONDO_0008025
neuronopathy, distal hereditary motor, type 2A
http://purl.obolibrary.org/obo/MESH_C563561 EquivalentTo 'neuronopathy, distal hereditary motor, type 2A'
http://purl.obolibrary.org/obo/MONDO_0008024
neuronopathy, distal hereditary motor, type 7A
http://purl.obolibrary.org/obo/MESH_C563562 EquivalentTo 'neuronopathy, distal hereditary motor, type 7A'
http://purl.obolibrary.org/obo/MONDO_0023650
littoral cell angioma of the spleen
'littoral cell angioma of the spleen' EquivalentTo http://purl.obolibrary.org/obo/SCTID_418040002
http://purl.obolibrary.org/obo/MONDO_0008039
tropical spastic paraparesis
http://purl.obolibrary.org/obo/GARD_0008208 EquivalentTo 'tropical spastic paraparesis'
http://purl.obolibrary.org/obo/MONDO_0008038
ataxia-pancytopenia syndrome
http://purl.obolibrary.org/obo/GARD_0003865 EquivalentTo 'ataxia-pancytopenia syndrome'
http://purl.obolibrary.org/obo/MONDO_0008036
myasthenia, limb-girdle, autoimmune
http://purl.obolibrary.org/obo/GARD_0008575 EquivalentTo 'myasthenia, limb-girdle, autoimmune'
http://purl.obolibrary.org/obo/MONDO_0008042
myoclonus and ataxia
http://purl.obolibrary.org/obo/GARD_0009256 EquivalentTo 'myoclonus and ataxia'
http://purl.obolibrary.org/obo/MONDO_0008040
transient myeloproliferative syndrome (disease)
http://purl.obolibrary.org/obo/GARD_0012765 EquivalentTo 'transient myeloproliferative syndrome (disease)'
http://purl.obolibrary.org/obo/MONDO_0008048
autosomal dominant centronuclear myopathy
'autosomal dominant centronuclear myopathy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C126689
http://purl.obolibrary.org/obo/MONDO_0008045
spinal muscular atrophy-progressive myoclonic epilepsy syndrome
http://purl.obolibrary.org/obo/GARD_0003044 EquivalentTo 'spinal muscular atrophy-progressive myoclonic epilepsy syndrome'
http://purl.obolibrary.org/obo/GARD_0003875 EquivalentTo 'spinal muscular atrophy-progressive myoclonic epilepsy syndrome'
http://purl.obolibrary.org/obo/MONDO_0008043
myoclonus-cerebellar ataxia-deafness syndrome
http://purl.obolibrary.org/obo/GARD_0003873 EquivalentTo 'myoclonus-cerebellar ataxia-deafness syndrome'
http://purl.obolibrary.org/obo/MONDO_0008053
MYP2
http://purl.obolibrary.org/obo/MESH_C563541 EquivalentTo 'MYP2'
http://purl.obolibrary.org/obo/MONDO_0008050
Laing early-onset distal myopathy
http://purl.obolibrary.org/obo/GARD_0010769 EquivalentTo 'Laing early-onset distal myopathy'
http://purl.obolibrary.org/obo/MONDO_0008059
Naegeli-Franceschetti-Jadassohn syndrome
http://purl.obolibrary.org/obo/GARD_0003912 EquivalentTo 'Naegeli-Franceschetti-Jadassohn syndrome'
http://purl.obolibrary.org/obo/MONDO_0008056
myotonic dystrophy type 1
http://purl.obolibrary.org/obo/GARD_0008310 EquivalentTo 'myotonic dystrophy type 1'
http://purl.obolibrary.org/obo/MONDO_0008062
narcolepsy 1
'narcolepsy 1' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84618
http://purl.obolibrary.org/obo/MONDO_0008060
nonsyndromic congenital nail disorder 1
http://purl.obolibrary.org/obo/GARD_0010363 EquivalentTo 'nonsyndromic congenital nail disorder 1'
http://purl.obolibrary.org/obo/MONDO_0008067
nasopharyngeal carcinoma, susceptibility to, 2
http://purl.obolibrary.org/obo/GARD_0007163 EquivalentTo 'nasopharyngeal carcinoma, susceptibility to, 2'
http://purl.obolibrary.org/obo/MONDO_0008075
neurofibromatosis type 3
http://purl.obolibrary.org/obo/GARD_0004768 EquivalentTo 'neurofibromatosis type 3'
http://purl.obolibrary.org/obo/MONDO_0008073
familial juvenile hyperuricemic nephropathy type 1
http://purl.obolibrary.org/obo/MESH_C537696 EquivalentTo 'familial juvenile hyperuricemic nephropathy type 1'
'familial juvenile hyperuricemic nephropathy type 1' EquivalentTo http://purl.obolibrary.org/obo/SCTID_46785007
http://purl.obolibrary.org/obo/MONDO_0008072
IGAN1
http://purl.obolibrary.org/obo/GARD_0000863 EquivalentTo 'IGAN1'
http://purl.obolibrary.org/obo/MONDO_0008070
nemaline myopathy 3
'nemaline myopathy 3' EquivalentTo http://purl.obolibrary.org/obo/SCTID_702349003
http://purl.obolibrary.org/obo/MONDO_0023693
maple syrup urine disease type 2
'maple syrup urine disease type 2' EquivalentTo http://www.orpha.net/ORDO/Orphanet_121025
http://purl.obolibrary.org/obo/MONDO_0008079
neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome
http://purl.obolibrary.org/obo/GARD_0010543 EquivalentTo 'neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome'
http://purl.obolibrary.org/obo/MONDO_0008076
amyotrophic neuralgia
http://purl.obolibrary.org/obo/GARD_0003955 EquivalentTo 'amyotrophic neuralgia'
http://purl.obolibrary.org/obo/MONDO_0008083
neuronal ceroid lipofuscinosis 4B
http://purl.obolibrary.org/obo/GARD_0001222 EquivalentTo 'neuronal ceroid lipofuscinosis 4B'
http://purl.obolibrary.org/obo/MONDO_0008081
neurofibromatosis, type IV, of Riccardi
http://purl.obolibrary.org/obo/MESH_C537392 EquivalentTo 'neurofibromatosis, type IV, of Riccardi'
http://purl.obolibrary.org/obo/MONDO_0008087
hereditary neuropathy with liability to pressure palsies
http://purl.obolibrary.org/obo/GARD_0005221 EquivalentTo 'hereditary neuropathy with liability to pressure palsies'
http://purl.obolibrary.org/obo/MONDO_0008097
linear nevus sebaceus syndrome
'linear nevus sebaceus syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C4678
http://purl.obolibrary.org/obo/MONDO_0008094
familial multiple nevi flammei
http://purl.obolibrary.org/obo/GARD_0003986 EquivalentTo 'familial multiple nevi flammei'
http://purl.obolibrary.org/obo/MONDO_0008090
cyclic hematopoiesis
http://purl.obolibrary.org/obo/GARD_0006229 EquivalentTo 'cyclic hematopoiesis'
http://purl.obolibrary.org/obo/MONDO_0008098
mesomelic dwarfism, Nievergelt type
http://purl.obolibrary.org/obo/GARD_0003554 EquivalentTo 'mesomelic dwarfism, Nievergelt type'
http://purl.obolibrary.org/obo/MONDO_0023540
Kashani-Strom-Utley syndrome
'Kashani-Strom-Utley syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_1137
http://purl.obolibrary.org/obo/MONDO_0018732
primary central nervous system lymphoma
http://purl.obolibrary.org/obo/GARD_0009318 EquivalentTo 'primary central nervous system lymphoma'
http://purl.obolibrary.org/obo/MONDO_0018735
multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
'multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C60672
http://purl.obolibrary.org/obo/MONDO_0018748
linear IgA dermatosis
'linear IgA dermatosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_95330001
http://purl.obolibrary.org/obo/MONDO_0018747
acquired epidermolysis bullosa
http://purl.obolibrary.org/obo/MESH_D016107 EquivalentTo 'acquired epidermolysis bullosa'
http://purl.obolibrary.org/obo/MONDO_0018746
mucous membrane pemphigoid
http://purl.obolibrary.org/obo/GARD_0005913 EquivalentTo 'mucous membrane pemphigoid'
http://purl.obolibrary.org/obo/MONDO_0018756
euthyroid Graves orbitopathy
'euthyroid Graves orbitopathy' SubClassOf 'autoimmune disease of the nervous system'
'euthyroid Graves orbitopathy' SubClassOf 'rare immune disease'
http://purl.obolibrary.org/obo/MONDO_0018769
isosporiasis
http://purl.obolibrary.org/obo/GARD_0003033 EquivalentTo 'isosporiasis'
http://purl.obolibrary.org/obo/MONDO_0018768
familial cold autoinflammatory syndrome
http://purl.obolibrary.org/obo/GARD_0009535 EquivalentTo 'familial cold autoinflammatory syndrome'
http://purl.obolibrary.org/obo/MONDO_0018772
Joubert syndrome
http://purl.obolibrary.org/obo/GARD_0006802 EquivalentTo 'Joubert syndrome'
http://purl.obolibrary.org/obo/MONDO_0018770
Jeune syndrome
'Jeune syndrome' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/GARD_0003049 EquivalentTo 'Jeune syndrome'
http://purl.obolibrary.org/obo/MONDO_0004146
transitional meningioma
'transitional meningioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000602
http://purl.obolibrary.org/obo/MONDO_0004143
psammomatous meningioma
'psammomatous meningioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000500
http://purl.obolibrary.org/obo/MONDO_0004145
meningothelial meningioma
'meningothelial meningioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000372
http://purl.obolibrary.org/obo/MONDO_0004144
fibrous meningioma
'fibrous meningioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000258
http://purl.obolibrary.org/obo/MONDO_0018781
KID syndrome
http://purl.obolibrary.org/obo/GARD_0003113 EquivalentTo 'KID syndrome'
http://purl.obolibrary.org/obo/MONDO_0018608
pure autonomic failure
http://purl.obolibrary.org/obo/GARD_0010428 EquivalentTo 'pure autonomic failure'
'pure autonomic failure' EquivalentTo http://purl.obolibrary.org/obo/SCTID_84438001
http://purl.obolibrary.org/obo/MONDO_0018612
congenital hypothyroidism
'congenital hypothyroidism' SubClassOf 'inherited genetic disease'
'congenital hypothyroidism' EquivalentTo http://purl.obolibrary.org/obo/SCTID_190268003
http://purl.obolibrary.org/obo/GARD_0001487 EquivalentTo 'congenital hypothyroidism'
http://purl.obolibrary.org/obo/MONDO_0018623
postpartum psychosis
'postpartum psychosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044013
http://purl.obolibrary.org/obo/MONDO_0018634
hereditary amyloidosis
'hereditary amyloidosis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84555
http://purl.obolibrary.org/obo/MONDO_0018631
Marie Unna hereditary hypotrichosis
http://purl.obolibrary.org/obo/GARD_0003390 EquivalentTo 'Marie Unna hereditary hypotrichosis'
http://purl.obolibrary.org/obo/MONDO_0018645
IgG4-related sclerosing cholangitis
'IgG4-related sclerosing cholangitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_722870008
http://purl.obolibrary.org/obo/MONDO_0018666
hepatoblastoma
http://purl.obolibrary.org/obo/GARD_0002657 EquivalentTo 'hepatoblastoma'
http://purl.obolibrary.org/obo/MONDO_0018662
autosomal recessive brachyolmia
'autosomal recessive brachyolmia' SubClassOf 'rare genetic bone disease'
'autosomal recessive brachyolmia' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0018661
Zika virus disease
http://purl.obolibrary.org/obo/GARD_0012894 EquivalentTo 'Zika virus disease'
http://purl.obolibrary.org/obo/MONDO_0018660
hemophilia
http://purl.obolibrary.org/obo/GARD_0010418 EquivalentTo 'hemophilia'
http://purl.obolibrary.org/obo/MONDO_0004038
dental enamel hypoplasia
'dental enamel hypoplasia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001304
http://purl.obolibrary.org/obo/MONDO_0004032
ovarian seromucinous carcinoma
'ovarian seromucinous carcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000358
http://purl.obolibrary.org/obo/MONDO_0004030
ureter transitional cell carcinoma
'ureter transitional cell carcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001973
http://purl.obolibrary.org/obo/MONDO_0018674
IgG4-related submandibular gland disease
'IgG4-related submandibular gland disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C82887
http://purl.obolibrary.org/obo/MONDO_0018673
IgG4-related pachymeningitis
http://purl.obolibrary.org/obo/GARD_0013256 EquivalentTo 'IgG4-related pachymeningitis'
http://purl.obolibrary.org/obo/MONDO_0018690
Holmes-Adie syndrome
http://purl.obolibrary.org/obo/GARD_0005749 EquivalentTo 'Holmes-Adie syndrome'
'Holmes-Adie syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_24225004
http://purl.obolibrary.org/obo/MONDO_0004049
combat disorder
'combat disorder' EquivalentTo http://purl.obolibrary.org/obo/SCTID_279611005
http://purl.obolibrary.org/obo/MONDO_0018688
anti-p200 pemphigoid
'anti-p200 pemphigoid' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008597
http://purl.obolibrary.org/obo/MONDO_0018687
progressive muscular atrophy
'progressive muscular atrophy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008864
http://purl.obolibrary.org/obo/MONDO_0004055
acute inflammation of lacrimal passage
'acute inflammation of lacrimal passage' EquivalentTo http://purl.obolibrary.org/obo/SCTID_302900006
http://purl.obolibrary.org/obo/MONDO_0018699
pseudohypoparathyroidism with Albright hereditary osteodystrophy
'pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0018694
isolated tracheo-esophageal fistula
'isolated tracheo-esophageal fistula' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35080
http://purl.obolibrary.org/obo/SCTID_83898004
'mitral valve disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_83898004
http://purl.obolibrary.org/obo/MONDO_0042967 EquivalentTo http://purl.obolibrary.org/obo/SCTID_83898004
http://purl.obolibrary.org/obo/MONDO_0018525
solid pseudopapillary carcinoma of pancreas
'solid pseudopapillary carcinoma of pancreas' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000542
http://purl.obolibrary.org/obo/MONDO_0018546
serotonin syndrome
'serotonin syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001842
http://purl.obolibrary.org/obo/MONDO_0018544
X-linked adrenoleukodystrophy
http://purl.obolibrary.org/obo/GARD_0005758 EquivalentTo 'X-linked adrenoleukodystrophy'
http://purl.obolibrary.org/obo/MONDO_0018540
PFAPA syndrome
http://purl.obolibrary.org/obo/GARD_0005657 EquivalentTo 'PFAPA syndrome'
http://purl.obolibrary.org/obo/MONDO_0018563
adactyly of foot
'adactyly of foot' EquivalentTo http://purl.obolibrary.org/obo/SCTID_66345008
http://purl.obolibrary.org/obo/MONDO_0018566
short stature-advanced bone age-early-onset osteoarthritis syndrome
'short stature-advanced bone age-early-onset osteoarthritis syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0018580
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome' SubClassOf 'rare genetic syndromic intellectual disability'
http://purl.obolibrary.org/obo/MONDO_0018571
contractures-developmental delay-Pierre robin syndrome
'contractures-developmental delay-Pierre robin syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0018570
hypophosphatasia
'hypophosphatasia' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/GARD_0006734 EquivalentTo 'hypophosphatasia'
'hypophosphatasia' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0018585
pediatric arterial ischemic stroke
'pediatric arterial ischemic stroke' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0018582
GCGR-related hyperglucagonemia
http://purl.obolibrary.org/obo/GARD_0010460 EquivalentTo 'GCGR-related hyperglucagonemia'
http://purl.obolibrary.org/obo/MONDO_0018408
cystic echinococcosis
'cystic echinococcosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
'cystic echinococcosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_721822004
http://purl.obolibrary.org/obo/MONDO_0018424
inherited lipoic acid biosynthesis defect
http://purl.obolibrary.org/obo/GARD_0012679 EquivalentTo 'inherited lipoic acid biosynthesis defect'
http://purl.obolibrary.org/obo/MONDO_0018458
familial hypocalciuric hypercalcemia
'familial hypocalciuric hypercalcemia' SubClassOf 'rare genetic bone disease'
'familial hypocalciuric hypercalcemia' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/GARD_0010828 EquivalentTo 'familial hypocalciuric hypercalcemia'
http://purl.obolibrary.org/obo/MONDO_0018459
isolated glycerol kinase deficiency
http://purl.obolibrary.org/obo/GARD_0002807 EquivalentTo 'isolated glycerol kinase deficiency'
http://purl.obolibrary.org/obo/MONDO_0018470
renal agenesis (disease)
http://purl.obolibrary.org/obo/GARD_0009228 EquivalentTo 'renal agenesis (disease)'
http://purl.obolibrary.org/obo/MONDO_0018469
pulmonary non-tuberculous mycobacterial infection
http://purl.obolibrary.org/obo/GARD_0012829 EquivalentTo 'pulmonary non-tuberculous mycobacterial infection'
http://purl.obolibrary.org/obo/MONDO_0018479
congenital adrenal hyperplasia
http://purl.obolibrary.org/obo/GARD_0001467 EquivalentTo 'congenital adrenal hyperplasia'
http://purl.obolibrary.org/obo/MONDO_0018477
bilirubin encephalopathy
http://purl.obolibrary.org/obo/GARD_0006830 EquivalentTo 'bilirubin encephalopathy'
http://purl.obolibrary.org/obo/MONDO_0018473
hyperlipoproteinemia type 3
http://purl.obolibrary.org/obo/GARD_0006703 EquivalentTo 'hyperlipoproteinemia type 3'
http://purl.obolibrary.org/obo/MONDO_0018484
semicircular canal dehiscence syndrome
'semicircular canal dehiscence syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_717799003
http://purl.obolibrary.org/obo/MONDO_0018493
malignant hyperthermia of anesthesia
'malignant hyperthermia of anesthesia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_405501007
http://purl.obolibrary.org/obo/MONDO_0008905
predisposition to invasive fungal disease due to CARD9 deficiency
http://purl.obolibrary.org/obo/GARD_0001077 EquivalentTo 'predisposition to invasive fungal disease due to CARD9 deficiency'
http://purl.obolibrary.org/obo/MONDO_0008900
camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia
http://purl.obolibrary.org/obo/GARD_0001064 EquivalentTo 'camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia'
http://purl.obolibrary.org/obo/MONDO_0008908
MGAT2-CDG
http://purl.obolibrary.org/obo/GARD_0009828 EquivalentTo 'MGAT2-CDG'
http://purl.obolibrary.org/obo/MESH_C535752 EquivalentTo 'MGAT2-CDG'
http://purl.obolibrary.org/obo/MONDO_0008907
PMM2-CDG
'PMM2-CDG' EquivalentTo http://purl.obolibrary.org/obo/SCTID_459063003
http://purl.obolibrary.org/obo/GARD_0009826 EquivalentTo 'PMM2-CDG'
http://purl.obolibrary.org/obo/MONDO_0008915
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
http://purl.obolibrary.org/obo/GARD_0003373 EquivalentTo 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome'
http://purl.obolibrary.org/obo/MONDO_0008919
systemic primary carnitine deficiency disease
'systemic primary carnitine deficiency disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C98864
http://purl.obolibrary.org/obo/GARD_0005104 EquivalentTo 'systemic primary carnitine deficiency disease'
http://purl.obolibrary.org/obo/MONDO_0008917
heart defects-limb shortening syndrome
'heart defects-limb shortening syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'heart defects-limb shortening syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0008927
colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
http://purl.obolibrary.org/obo/MESH_C565876 EquivalentTo 'colobomatous optic disc-macular atrophy-chorioretinopathy syndrome'
http://purl.obolibrary.org/obo/MONDO_0008926
COFS syndrome
http://purl.obolibrary.org/obo/GARD_0006027 EquivalentTo 'COFS syndrome'
http://purl.obolibrary.org/obo/MONDO_0008924
congenital cataract-ichthyosis syndrome
http://purl.obolibrary.org/obo/GARD_0001145 EquivalentTo 'congenital cataract-ichthyosis syndrome'
http://purl.obolibrary.org/obo/MONDO_0008921
Carnosinemia
http://purl.obolibrary.org/obo/GARD_0006001 EquivalentTo 'Carnosinemia'
http://purl.obolibrary.org/obo/MONDO_0008929
cataract-intellectual disability-hypogonadism syndrome
http://purl.obolibrary.org/obo/GARD_0003406 EquivalentTo 'cataract-intellectual disability-hypogonadism syndrome'
http://purl.obolibrary.org/obo/MONDO_0008928
cataract-ataxia-deafness syndrome
http://purl.obolibrary.org/obo/GARD_0001141 EquivalentTo 'cataract-ataxia-deafness syndrome'
http://purl.obolibrary.org/obo/MONDO_0008938
early-onset cerebellar ataxia with retained tendon reflexes
http://purl.obolibrary.org/obo/GARD_0002600 EquivalentTo 'early-onset cerebellar ataxia with retained tendon reflexes'
http://purl.obolibrary.org/obo/MONDO_0008935
cerebellar ataxia-hypogonadism syndrome
http://purl.obolibrary.org/obo/GARD_0003314 EquivalentTo 'cerebellar ataxia-hypogonadism syndrome'
http://purl.obolibrary.org/obo/MONDO_0008934
cerebellar ataxia-ectodermal dysplasia syndrome
http://purl.obolibrary.org/obo/GARD_0001189 EquivalentTo 'cerebellar ataxia-ectodermal dysplasia syndrome'
http://purl.obolibrary.org/obo/MONDO_0008931
Cenani-Lenz syndactyly syndrome
http://purl.obolibrary.org/obo/GARD_0005084 EquivalentTo 'Cenani-Lenz syndactyly syndrome'
http://purl.obolibrary.org/obo/MONDO_0008939
isolated cerebellar hypoplasia/agenesis
http://purl.obolibrary.org/obo/GARD_0001194 EquivalentTo 'isolated cerebellar hypoplasia/agenesis'
'isolated cerebellar hypoplasia/agenesis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C98890
http://purl.obolibrary.org/obo/MONDO_0008949
cerebral malformation, seizures, hypertrichosis, and overlapping fingers
http://purl.obolibrary.org/obo/GARD_0003812 EquivalentTo 'cerebral malformation, seizures, hypertrichosis, and overlapping fingers'
http://purl.obolibrary.org/obo/MONDO_0008943
autosomal recessive spinocerebellar ataxia 2
http://purl.obolibrary.org/obo/GARD_0001199 EquivalentTo 'autosomal recessive spinocerebellar ataxia 2'
http://purl.obolibrary.org/obo/MONDO_0008941
hepatic fibrosis-renal cysts-intellectual disability syndrome
http://purl.obolibrary.org/obo/MESH_C565867 EquivalentTo 'hepatic fibrosis-renal cysts-intellectual disability syndrome'
http://purl.obolibrary.org/obo/GARD_0005177 EquivalentTo 'hepatic fibrosis-renal cysts-intellectual disability syndrome'
http://purl.obolibrary.org/obo/MONDO_0008940
endosteal sclerosis-cerebellar hypoplasia syndrome
'endosteal sclerosis-cerebellar hypoplasia syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/GARD_0001195 EquivalentTo 'endosteal sclerosis-cerebellar hypoplasia syndrome'
http://purl.obolibrary.org/obo/MONDO_0008956
congenital neuronal ceroid lipofuscinosis
http://purl.obolibrary.org/obo/GARD_0009447 EquivalentTo 'congenital neuronal ceroid lipofuscinosis'
http://www.orpha.net/ORDO/Orphanet_70578
'adult acute respiratory distress syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_70578
'acute respiratory distress syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_70578
http://purl.obolibrary.org/obo/DOID_11394
http://purl.obolibrary.org/obo/DOID_11394 EquivalentTo 'adult respiratory distress syndrome'
http://purl.obolibrary.org/obo/DOID_11394 EquivalentTo 'acute respiratory distress syndrome'
http://purl.obolibrary.org/obo/MONDO_0008965
CHARGE syndrome
'CHARGE syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/GARD_0000029 EquivalentTo 'CHARGE syndrome'
http://purl.obolibrary.org/obo/MONDO_0008964
congenital secretory chloride diarrhea 1
http://purl.obolibrary.org/obo/GARD_0010001 EquivalentTo 'congenital secretory chloride diarrhea 1'
http://purl.obolibrary.org/obo/OMIM_205000
'obsolete amyotonia congenita' EquivalentTo http://purl.obolibrary.org/obo/OMIM_205000
http://purl.obolibrary.org/obo/MONDO_0008978
chordoma (disease)
http://purl.obolibrary.org/obo/GARD_0001303 EquivalentTo 'chordoma (disease)'
http://purl.obolibrary.org/obo/MONDO_0008977
chondrosarcoma (disease)
http://purl.obolibrary.org/obo/GARD_0006055 EquivalentTo 'chondrosarcoma (disease)'
http://purl.obolibrary.org/obo/MONDO_0008975
otospondylomegaepiphyseal dysplasia
'otospondylomegaepiphyseal dysplasia' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/GARD_0004130 EquivalentTo 'otospondylomegaepiphyseal dysplasia'
http://purl.obolibrary.org/obo/MONDO_0008974
Greenberg dysplasia
'Greenberg dysplasia' SubClassOf 'rare genetic bone disease'
'Greenberg dysplasia' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0008988
citrullinemia type I
http://purl.obolibrary.org/obo/GARD_0006114 EquivalentTo 'citrullinemia type I'
http://purl.obolibrary.org/obo/MONDO_0008985
ciliary dyskinesia with transposition of ciliary microtubules
http://purl.obolibrary.org/obo/GARD_0001361 EquivalentTo 'ciliary dyskinesia with transposition of ciliary microtubules'
http://purl.obolibrary.org/obo/MONDO_0008982
central areolar choroidal dystrophy
http://purl.obolibrary.org/obo/GARD_0010049 EquivalentTo 'central areolar choroidal dystrophy'
http://purl.obolibrary.org/obo/MONDO_0008981
infantile choroidocerebral calcification syndrome
http://purl.obolibrary.org/obo/GARD_0001313 EquivalentTo 'infantile choroidocerebral calcification syndrome'
http://purl.obolibrary.org/obo/MONDO_0008980
ataxia-hypogonadism-choroidal dystrophy syndrome
http://purl.obolibrary.org/obo/GARD_0000944 EquivalentTo 'ataxia-hypogonadism-choroidal dystrophy syndrome'
http://purl.obolibrary.org/obo/MONDO_0018307
neurodegeneration with brain iron accumulation
http://purl.obolibrary.org/obo/GARD_0011899 EquivalentTo 'neurodegeneration with brain iron accumulation'
http://purl.obolibrary.org/obo/MONDO_0018309
Hirschsprung disease
http://purl.obolibrary.org/obo/GARD_0006660 EquivalentTo 'Hirschsprung disease'
http://purl.obolibrary.org/obo/MONDO_0008996
Joubert syndrome with hepatic defect
http://purl.obolibrary.org/obo/GARD_0001410 EquivalentTo 'Joubert syndrome with hepatic defect'
'Joubert syndrome with hepatic defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
'Joubert syndrome with hepatic defect' SubClassOf 'rare parenchymal liver disease'
'Joubert syndrome with hepatic defect' SubClassOf 'genetic parenchymatous liver disease'
http://purl.obolibrary.org/obo/MONDO_0008992
Juberg-Hayward syndrome
'Juberg-Hayward syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0008991
Verloove Vanhorick-Brubakk syndrome
'Verloove Vanhorick-Brubakk syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0008990
cleft larynx, posterior
http://purl.obolibrary.org/obo/GARD_0004015 EquivalentTo 'cleft larynx, posterior'
http://purl.obolibrary.org/obo/MONDO_0018310
Langerhans cell histiocytosis
http://purl.obolibrary.org/obo/GARD_0006858 EquivalentTo 'Langerhans cell histiocytosis'
http://purl.obolibrary.org/obo/MONDO_0018339
PrP systemic amyloidosis
'PrP systemic amyloidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
http://purl.obolibrary.org/obo/MONDO_0018342
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0018360
neonatal lupus erythematosus
http://purl.obolibrary.org/obo/GARD_0009563 EquivalentTo 'neonatal lupus erythematosus'
http://purl.obolibrary.org/obo/MONDO_0018354
Prader-Willi-like syndrome
'Prader-Willi-like syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0018352
squamous cell carcinoma of penis
'squamous cell carcinoma of penis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_403468003
http://purl.obolibrary.org/obo/MONDO_0018382
epiphysiolysis of the hip
'epiphysiolysis of the hip' EquivalentTo http://purl.obolibrary.org/obo/SCTID_26460006
http://purl.obolibrary.org/obo/MONDO_0018381
osteochondrosis
'osteochondrosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008575
http://purl.obolibrary.org/obo/MONDO_0018373
avascular necrosis
'avascular necrosis' SubClassOf 'osteonecrosis'
'avascular necrosis' SubClassOf 'osteonecrosis'
http://purl.obolibrary.org/obo/MONDO_0008806
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
http://purl.obolibrary.org/obo/GARD_0003051 EquivalentTo 'Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome'
http://purl.obolibrary.org/obo/MONDO_0008803
Antley-Bixler syndrome
'Antley-Bixler syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0008800
microphthalmia with limb anomalies
http://purl.obolibrary.org/obo/GARD_0000722 EquivalentTo 'microphthalmia with limb anomalies'
'microphthalmia with limb anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0008808
aplasia cutis congenita-intestinal lymphangiectasia syndrome
http://purl.obolibrary.org/obo/GARD_0000753 EquivalentTo 'aplasia cutis congenita-intestinal lymphangiectasia syndrome'
http://purl.obolibrary.org/obo/MONDO_0008816
Chiari malformation type II
http://purl.obolibrary.org/obo/GARD_0009232 EquivalentTo 'Chiari malformation type II'
http://purl.obolibrary.org/obo/MONDO_0008814
hyperargininemia
'hyperargininemia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84568
http://purl.obolibrary.org/obo/GARD_0005840 EquivalentTo 'hyperargininemia'
http://purl.obolibrary.org/obo/MONDO_0008813
arachnoid cyst
http://purl.obolibrary.org/obo/GARD_0000017 EquivalentTo 'arachnoid cyst'
http://purl.obolibrary.org/obo/MONDO_0008812
AREDYLD syndrome
http://purl.obolibrary.org/obo/GARD_0008509 EquivalentTo 'AREDYLD syndrome'
http://purl.obolibrary.org/obo/MONDO_0008818
arterial tortuosity syndrome
http://purl.obolibrary.org/obo/GARD_0000774 EquivalentTo 'arterial tortuosity syndrome'
'arterial tortuosity syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0008827
progressive pseudorheumatoid arthropathy of childhood
http://purl.obolibrary.org/obo/GARD_0009184 EquivalentTo 'progressive pseudorheumatoid arthropathy of childhood'
http://purl.obolibrary.org/obo/MONDO_0008826
arthrogryposis-hyperkeratosis syndrome, lethal form
http://purl.obolibrary.org/obo/GARD_0003053 EquivalentTo 'arthrogryposis-hyperkeratosis syndrome, lethal form'
http://purl.obolibrary.org/obo/MONDO_0008825
arthrogryposis multiplex congenita-whistling face syndrome
http://purl.obolibrary.org/obo/GARD_0000792 EquivalentTo 'arthrogryposis multiplex congenita-whistling face syndrome'
http://purl.obolibrary.org/obo/MONDO_0008824
fetal akinesia deformation sequence
'fetal akinesia deformation sequence' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0008823
neurogenic arthrogryposis multiplex congenita
http://purl.obolibrary.org/obo/GARD_0000790 EquivalentTo 'neurogenic arthrogryposis multiplex congenita'
http://purl.obolibrary.org/obo/MONDO_0008820
arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies
http://purl.obolibrary.org/obo/GARD_0010087 EquivalentTo 'arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies'
http://purl.obolibrary.org/obo/MONDO_0008838
ataxia-deafness-intellectual disability syndrome
http://purl.obolibrary.org/obo/GARD_0004644 EquivalentTo 'ataxia-deafness-intellectual disability syndrome'
http://purl.obolibrary.org/obo/MONDO_0008832
right atrial isomerism (disease)
http://purl.obolibrary.org/obo/GARD_0006795 EquivalentTo 'right atrial isomerism (disease)'
http://purl.obolibrary.org/obo/MONDO_0008830
aspartylglucosaminuria
http://purl.obolibrary.org/obo/GARD_0005854 EquivalentTo 'aspartylglucosaminuria'
http://purl.obolibrary.org/obo/MONDO_0008846
atransferrinemia
'atransferrinemia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_111571009
http://purl.obolibrary.org/obo/MONDO_0008843
atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
http://purl.obolibrary.org/obo/GARD_0002279 EquivalentTo 'atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome'
http://purl.obolibrary.org/obo/MESH_C565928 EquivalentTo 'atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome'
http://purl.obolibrary.org/obo/MONDO_0008842
ataxia with oculomotor apraxia type 1
http://purl.obolibrary.org/obo/GARD_0009283 EquivalentTo 'ataxia with oculomotor apraxia type 1'
http://purl.obolibrary.org/obo/MONDO_0008840
ataxia telangiectasia
'ataxia telangiectasia' SubClassOf 'ataxia-telangiectasia variant'
'ataxia telangiectasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042983
http://purl.obolibrary.org/obo/MONDO_0008857
Beemer-Ertbruggen syndrome
'Beemer-Ertbruggen syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'Beemer-Ertbruggen syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0008856
immunodeficiency 27A
http://purl.obolibrary.org/obo/GARD_0009185 EquivalentTo 'immunodeficiency 27A'
http://purl.obolibrary.org/obo/MONDO_0008855
MHC class II deficiency
'MHC class II deficiency' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3895
http://purl.obolibrary.org/obo/MONDO_0008854
Bardet-Biedl syndrome 1
http://purl.obolibrary.org/obo/GARD_0000820 EquivalentTo 'Bardet-Biedl syndrome 1'
http://purl.obolibrary.org/obo/MONDO_0008853
Barber-Say syndrome
'Barber-Say syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0008850
Cooper-Jabs syndrome
'Cooper-Jabs syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'Cooper-Jabs syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0008862
3-Methylcrotonyl-Coa carboxylase 2 deficiency
http://purl.obolibrary.org/obo/GARD_0009151 EquivalentTo '3-Methylcrotonyl-Coa carboxylase 2 deficiency'
http://purl.obolibrary.org/obo/MONDO_0008861
3-Methylcrotonyl-Coa carboxylase 1 deficiency
'3-Methylcrotonyl-Coa carboxylase 1 deficiency' SubClassOf 'urea cycle disorder'
http://purl.obolibrary.org/obo/MESH_C535308 EquivalentTo '3-Methylcrotonyl-Coa carboxylase 1 deficiency'
http://purl.obolibrary.org/obo/GARD_0005665 EquivalentTo '3-Methylcrotonyl-Coa carboxylase 1 deficiency'
http://purl.obolibrary.org/obo/MONDO_0008875
blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
'blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0000905 EquivalentTo 'blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome'
http://purl.obolibrary.org/obo/MONDO_0008872
microcephalic osteodysplastic primordial dwarfism type II
'microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'inborn errors of metabolism'
http://purl.obolibrary.org/obo/MONDO_0008870
bird headed-dwarfism, Montreal type
http://purl.obolibrary.org/obo/GARD_0000895 EquivalentTo 'bird headed-dwarfism, Montreal type'
http://purl.obolibrary.org/obo/MONDO_0008889
thromboangiitis obliterans
http://purl.obolibrary.org/obo/GARD_0005969 EquivalentTo 'thromboangiitis obliterans'
http://purl.obolibrary.org/obo/MONDO_0008888
Williams-Campbell syndrome
http://purl.obolibrary.org/obo/GARD_0007791 EquivalentTo 'Williams-Campbell syndrome'
http://purl.obolibrary.org/obo/MONDO_0008885
Branchioskeletogenital syndrome
http://purl.obolibrary.org/obo/GARD_0000955 EquivalentTo 'Branchioskeletogenital syndrome'
http://purl.obolibrary.org/obo/MONDO_0008882
congenital bowing of long bones
'congenital bowing of long bones' EquivalentTo http://purl.obolibrary.org/obo/SCTID_716098006
http://purl.obolibrary.org/obo/MONDO_0018201
extragonadal germ cell tumor
http://purl.obolibrary.org/obo/GARD_0009325 EquivalentTo 'extragonadal germ cell tumor'
http://purl.obolibrary.org/obo/MONDO_0008899
camptodactyly syndrome, Guadalajara type 2
'camptodactyly syndrome, Guadalajara type 2' SubClassOf 'rare genetic developmental defect during embryogenesis'
'camptodactyly syndrome, Guadalajara type 2' SubClassOf 'syndrome with limb reduction defects'
'camptodactyly syndrome, Guadalajara type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
'camptodactyly syndrome, Guadalajara type 2' SubClassOf 'dysostosis of genetic origin with limb anomaly as a major feature'
http://purl.obolibrary.org/obo/MONDO_0008898
camptodactyly syndrome, Guadalajara type 1
'camptodactyly syndrome, Guadalajara type 1' SubClassOf 'rare genetic developmental defect during embryogenesis'
'camptodactyly syndrome, Guadalajara type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0008897
hyperphosphatemic familial tumoral calcinosis
http://purl.obolibrary.org/obo/GARD_0010879 EquivalentTo 'hyperphosphatemic familial tumoral calcinosis'
http://purl.obolibrary.org/obo/MONDO_0008896
Campomelia, Cumming type
'Campomelia, Cumming type' SubClassOf 'hereditary lymphedema'
'Campomelia, Cumming type' SubClassOf 'genetic vascular anomaly'
'Campomelia, Cumming type' SubClassOf 'rare genetic immune disease'
'Campomelia, Cumming type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0008895
hereditary arterial and articular multiple calcification syndrome
http://purl.obolibrary.org/obo/GARD_0010762 EquivalentTo 'hereditary arterial and articular multiple calcification syndrome'
http://purl.obolibrary.org/obo/MONDO_0008891
riboflavin transporter deficiency
http://purl.obolibrary.org/obo/GARD_0009993 EquivalentTo 'riboflavin transporter deficiency'
http://purl.obolibrary.org/obo/MONDO_0018219
giant cell tumor of bone (disease)
http://purl.obolibrary.org/obo/GARD_0013046 EquivalentTo 'giant cell tumor of bone (disease)'
http://purl.obolibrary.org/obo/MONDO_0018215
paraneoplastic neurologic syndrome
http://purl.obolibrary.org/obo/GARD_0007326 EquivalentTo 'paraneoplastic neurologic syndrome'
http://purl.obolibrary.org/obo/MONDO_0018212
familial cervical artery dissection
'familial cervical artery dissection' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0018213
hereditary sensory and autonomic neuropathy type 1
http://purl.obolibrary.org/obo/GARD_0006635 EquivalentTo 'hereditary sensory and autonomic neuropathy type 1'
http://purl.obolibrary.org/obo/MONDO_0018229
Stevens-Johnson syndrome
http://purl.obolibrary.org/obo/GARD_0007700 EquivalentTo 'Stevens-Johnson syndrome'
http://purl.obolibrary.org/obo/MONDO_0018233
Otopalatodigital syndrome spectrum disorder
'Otopalatodigital syndrome spectrum disorder' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0018230
primary bone dysplasia
'primary bone dysplasia' SubClassOf 'rare genetic bone disease'
'primary bone dysplasia' SubClassOf 'rare genetic bone development disorder'
http://purl.obolibrary.org/obo/MONDO_0018247
CADDS
http://purl.obolibrary.org/obo/GARD_0012472 EquivalentTo 'CADDS'
http://purl.obolibrary.org/obo/MONDO_0018276
muscular dystrophy-dystroglycanopathy
http://purl.obolibrary.org/obo/GARD_0012584 EquivalentTo 'muscular dystrophy-dystroglycanopathy'
http://purl.obolibrary.org/obo/MONDO_0008707
Acro-renal-mandibular syndrome
'Acro-renal-mandibular syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/GARD_0000480 EquivalentTo 'Acro-renal-mandibular syndrome'
'Acro-renal-mandibular syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0008706
Ackerman syndrome
'Ackerman syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0008704
short-limb skeletal dysplasia with severe combined immunodeficiency
http://purl.obolibrary.org/obo/GARD_0000463 EquivalentTo 'short-limb skeletal dysplasia with severe combined immunodeficiency'
http://purl.obolibrary.org/obo/MONDO_0008703
acromesomelic dysplasia, Grebe type
http://purl.obolibrary.org/obo/GARD_0001300 EquivalentTo 'acromesomelic dysplasia, Grebe type'
http://purl.obolibrary.org/obo/MONDO_0008702
achondrogenesis type II
'achondrogenesis type II' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/GARD_0008713 EquivalentTo 'achondrogenesis type II'
http://purl.obolibrary.org/obo/MONDO_0008701
achondrogenesis type IA
http://purl.obolibrary.org/obo/GARD_0000459 EquivalentTo 'achondrogenesis type IA'
http://purl.obolibrary.org/obo/MONDO_0008700
acheiropody
http://purl.obolibrary.org/obo/GARD_0000376 EquivalentTo 'acheiropody'
http://purl.obolibrary.org/obo/MONDO_0008709
Acrocephalopolydactyly
http://purl.obolibrary.org/obo/GARD_0002096 EquivalentTo 'Acrocephalopolydactyly'
http://purl.obolibrary.org/obo/MONDO_0008708
acrocallosal syndrome
http://purl.obolibrary.org/obo/GARD_0005721 EquivalentTo 'acrocallosal syndrome'
http://purl.obolibrary.org/obo/MONDO_0008718
Morvan syndrome
http://purl.obolibrary.org/obo/GARD_0009766 EquivalentTo 'Morvan syndrome'
'Morvan syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001897
http://purl.obolibrary.org/obo/MONDO_0008717
acromesomelic dysplasia, Hunter-Thompson type
http://purl.obolibrary.org/obo/GARD_0000506 EquivalentTo 'acromesomelic dysplasia, Hunter-Thompson type'
http://purl.obolibrary.org/obo/MONDO_0008716
Acrogeria
http://purl.obolibrary.org/obo/GARD_0006543 EquivalentTo 'Acrogeria'
http://purl.obolibrary.org/obo/MONDO_0008715
acrofrontofacionasal dysostosis
http://purl.obolibrary.org/obo/GARD_0000484 EquivalentTo 'acrofrontofacionasal dysostosis'
http://purl.obolibrary.org/obo/MONDO_0008712
acrocraniofacial dysostosis
http://purl.obolibrary.org/obo/GARD_0003075 EquivalentTo 'acrocraniofacial dysostosis'
'acrocraniofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0008711
Goodman syndrome
'Goodman syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
'Goodman syndrome' SubClassOf 'disease shares features of' some 'Carpenter syndrome'
http://purl.obolibrary.org/obo/MONDO_0008719
acrorenal syndrome, autosomal recessive
http://purl.obolibrary.org/obo/GARD_0000514 EquivalentTo 'acrorenal syndrome, autosomal recessive'
http://purl.obolibrary.org/obo/MONDO_0008729
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
http://purl.obolibrary.org/obo/GARD_0005658 EquivalentTo 'congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency'
http://purl.obolibrary.org/obo/MONDO_0008728
classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
http://purl.obolibrary.org/obo/GARD_0012665 EquivalentTo 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency'
'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'disease disrupting molecular activity'
http://purl.obolibrary.org/obo/GARD_0005757 EquivalentTo 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency'
'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'disease caused by disruption of' some http://purl.obolibrary.org/obo/GO_0004509
http://purl.obolibrary.org/obo/MONDO_0008727
congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
http://purl.obolibrary.org/obo/GARD_0009152 EquivalentTo 'congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency'
http://purl.obolibrary.org/obo/MESH_C538236 EquivalentTo 'congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency'
http://purl.obolibrary.org/obo/MONDO_0008725
congenital lipoid adrenal hyperplasia due to STAR deficency
http://purl.obolibrary.org/obo/GARD_0001465 EquivalentTo 'congenital lipoid adrenal hyperplasia due to STAR deficency'
http://purl.obolibrary.org/obo/MONDO_0008723
very long chain acyl-CoA dehydrogenase deficiency
'very long chain acyl-CoA dehydrogenase deficiency' EquivalentTo http://purl.obolibrary.org/obo/SCTID_237997005
http://purl.obolibrary.org/obo/GARD_0005508 EquivalentTo 'very long chain acyl-CoA dehydrogenase deficiency'
http://purl.obolibrary.org/obo/MONDO_0008721
medium chain acyl-CoA dehydrogenase deficiency
http://purl.obolibrary.org/obo/GARD_0000540 EquivalentTo 'medium chain acyl-CoA dehydrogenase deficiency'
http://purl.obolibrary.org/obo/MONDO_0008720
adrenocorticotropic hormone deficiency (disease)
'adrenocorticotropic hormone deficiency (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001979
http://purl.obolibrary.org/obo/GARD_0005727 EquivalentTo 'adrenocorticotropic hormone deficiency (disease)'
http://purl.obolibrary.org/obo/MONDO_0008737
congenital afibrinogenemia
http://purl.obolibrary.org/obo/GARD_0005761 EquivalentTo 'congenital afibrinogenemia'
http://purl.obolibrary.org/obo/MONDO_0008730
congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
http://purl.obolibrary.org/obo/GARD_0001469 EquivalentTo 'congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency'
http://purl.obolibrary.org/obo/MONDO_0008747
oculocutaneous albinism type 3
http://purl.obolibrary.org/obo/GARD_0004039 EquivalentTo 'oculocutaneous albinism type 3'
http://purl.obolibrary.org/obo/GARD_0009641 EquivalentTo 'oculocutaneous albinism type 3'
http://purl.obolibrary.org/obo/MONDO_0008744
alar cartilages hypoplasia-coloboma-telecanthus syndrome
'alar cartilages hypoplasia-coloboma-telecanthus syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/GARD_0000588 EquivalentTo 'alar cartilages hypoplasia-coloboma-telecanthus syndrome'
'alar cartilages hypoplasia-coloboma-telecanthus syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0008743
Stimmler syndrome
http://purl.obolibrary.org/obo/GARD_0005026 EquivalentTo 'Stimmler syndrome'
http://purl.obolibrary.org/obo/MONDO_0008742
autosomal dominant severe congenital neutropenia
'autosomal dominant severe congenital neutropenia' EquivalentTo http://purl.obolibrary.org/obo/OMIM_202700
http://purl.obolibrary.org/obo/MONDO_0008741
PAGOD syndrome
'PAGOD syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0003086 EquivalentTo 'PAGOD syndrome'
http://purl.obolibrary.org/obo/MONDO_0008740
agnathia-otocephaly complex
'agnathia-otocephaly complex' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C124568
http://purl.obolibrary.org/obo/GARD_0009126 EquivalentTo 'agnathia-otocephaly complex'
http://purl.obolibrary.org/obo/MONDO_0008759
Oxoglutaricaciduria
http://purl.obolibrary.org/obo/GARD_0000617 EquivalentTo 'Oxoglutaricaciduria'
http://purl.obolibrary.org/obo/MONDO_0008758
mitochondrial DNA depletion syndrome 4a
http://purl.obolibrary.org/obo/GARD_0005783 EquivalentTo 'mitochondrial DNA depletion syndrome 4a'
http://purl.obolibrary.org/obo/MONDO_0008757
alopecia universalis
http://purl.obolibrary.org/obo/GARD_0000614 EquivalentTo 'alopecia universalis'
http://purl.obolibrary.org/obo/MONDO_0008756
alopecia-intellectual disability syndrome
http://purl.obolibrary.org/obo/GARD_0000612 EquivalentTo 'alopecia-intellectual disability syndrome'
http://purl.obolibrary.org/obo/MONDO_0008755
Moynahan syndrome
'Moynahan syndrome' SubClassOf 'rare genetic skin disease'
http://purl.obolibrary.org/obo/GARD_0000606 EquivalentTo 'Moynahan syndrome'
http://purl.obolibrary.org/obo/MONDO_0008750
microcephaly-albinism-digital anomalies syndrome
'microcephaly-albinism-digital anomalies syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'microcephaly-albinism-digital anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0008769
neuronal ceroid lipofuscinosis 2
http://purl.obolibrary.org/obo/GARD_0003045 EquivalentTo 'neuronal ceroid lipofuscinosis 2'
http://purl.obolibrary.org/obo/MONDO_0008768
neuronal ceroid lipofuscinosis 4A
http://purl.obolibrary.org/obo/GARD_0006845 EquivalentTo 'neuronal ceroid lipofuscinosis 4A'
http://purl.obolibrary.org/obo/MONDO_0008767
neuronal ceroid lipofuscinosis 3
http://purl.obolibrary.org/obo/GARD_0005897 EquivalentTo 'neuronal ceroid lipofuscinosis 3'
http://purl.obolibrary.org/obo/MONDO_0008764
Leber congenital amaurosis 1
http://purl.obolibrary.org/obo/GARD_0000635 EquivalentTo 'Leber congenital amaurosis 1'
http://purl.obolibrary.org/obo/MONDO_0008763
Alstrom syndrome
http://purl.obolibrary.org/obo/GARD_0005787 EquivalentTo 'Alstrom syndrome'
http://purl.obolibrary.org/obo/MONDO_0008761
alpha-2-deficient collagen disease
http://purl.obolibrary.org/obo/GARD_0003454 EquivalentTo 'alpha-2-deficient collagen disease'
http://purl.obolibrary.org/obo/MONDO_0008760
beta-ketothiolase deficiency
http://purl.obolibrary.org/obo/GARD_0000872 EquivalentTo 'beta-ketothiolase deficiency'
http://purl.obolibrary.org/obo/MONDO_0008771
amelogenesis imperfecta type 1G
http://purl.obolibrary.org/obo/GARD_0000646 EquivalentTo 'amelogenesis imperfecta type 1G'
http://purl.obolibrary.org/obo/GARD_0009860 EquivalentTo 'amelogenesis imperfecta type 1G'
http://purl.obolibrary.org/obo/MONDO_0008770
amelogenesis imperfecta type 1C
http://purl.obolibrary.org/obo/MESH_C567147 EquivalentTo 'amelogenesis imperfecta type 1C'
http://purl.obolibrary.org/obo/MONDO_0008788
IRIDA syndrome
http://purl.obolibrary.org/obo/GARD_0010957 EquivalentTo 'IRIDA syndrome'
http://purl.obolibrary.org/obo/MONDO_0008787
microcytic anemia with liver iron overload
http://purl.obolibrary.org/obo/GARD_0012360 EquivalentTo 'microcytic anemia with liver iron overload'
http://purl.obolibrary.org/obo/MONDO_0008786
pyridoxine-responsive sideroblastic anemia
http://purl.obolibrary.org/obo/GARD_0009872 EquivalentTo 'pyridoxine-responsive sideroblastic anemia'
'pyridoxine-responsive sideroblastic anemia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_191260004
http://purl.obolibrary.org/obo/MONDO_0008785
pyridoxine-refractory autosomal recessive sideroblastic anemia
http://purl.obolibrary.org/obo/GARD_0008249 EquivalentTo 'pyridoxine-refractory autosomal recessive sideroblastic anemia'
http://purl.obolibrary.org/obo/MONDO_0008783
Tangier disease
http://purl.obolibrary.org/obo/GARD_0007731 EquivalentTo 'Tangier disease'
http://purl.obolibrary.org/obo/MONDO_0018105
Wolfram syndrome
http://purl.obolibrary.org/obo/GARD_0007898 EquivalentTo 'Wolfram syndrome'
http://purl.obolibrary.org/obo/MONDO_0018100
primary hypomagnesemia
http://purl.obolibrary.org/obo/GARD_0002906 EquivalentTo 'primary hypomagnesemia'
http://purl.obolibrary.org/obo/MONDO_0008799
anophthalmia/microphthalmia-esophageal atresia syndrome
http://purl.obolibrary.org/obo/GARD_0001443 EquivalentTo 'anophthalmia/microphthalmia-esophageal atresia syndrome'
'anophthalmia/microphthalmia-esophageal atresia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0008796
aniridia-renal agenesis-psychomotor retardation syndrome
http://purl.obolibrary.org/obo/GARD_0000690 EquivalentTo 'aniridia-renal agenesis-psychomotor retardation syndrome'
http://purl.obolibrary.org/obo/MONDO_0008795
aniridia-cerebellar ataxia-intellectual disability syndrome
http://purl.obolibrary.org/obo/GARD_0000013 EquivalentTo 'aniridia-cerebellar ataxia-intellectual disability syndrome'
http://purl.obolibrary.org/obo/MONDO_0008791
isolated anencephaly/exencephaly
http://purl.obolibrary.org/obo/GARD_0005808 EquivalentTo 'isolated anencephaly/exencephaly'
http://purl.obolibrary.org/obo/MONDO_0018116
galactosemia
http://purl.obolibrary.org/obo/GARD_0002424 EquivalentTo 'galactosemia'
http://purl.obolibrary.org/obo/MONDO_0018135
oculocutaneous albinism type 1
http://purl.obolibrary.org/obo/GARD_0004037 EquivalentTo 'oculocutaneous albinism type 1'
http://purl.obolibrary.org/obo/MONDO_0018150
Gaucher disease
'Gaucher disease' SubClassOf 'sphingolipidosis'
'Gaucher disease' SubClassOf 'sphingolipidosis'
http://purl.obolibrary.org/obo/GARD_0008233 EquivalentTo 'Gaucher disease'
'Gaucher disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_190794006
http://purl.obolibrary.org/obo/MONDO_0018149
GM1 gangliosidosis
http://purl.obolibrary.org/obo/GARD_0010891 EquivalentTo 'GM1 gangliosidosis'
http://purl.obolibrary.org/obo/MONDO_0018153
Erdheim-Chester disease
http://purl.obolibrary.org/obo/GARD_0006369 EquivalentTo 'Erdheim-Chester disease'
http://purl.obolibrary.org/obo/MONDO_0018155
lateral sclerosis
http://purl.obolibrary.org/obo/GARD_0010684 EquivalentTo 'lateral sclerosis'
'lateral sclerosis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C129933
http://purl.obolibrary.org/obo/MONDO_0018166
oral submucous fibrosis
'oral submucous fibrosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001818
http://purl.obolibrary.org/obo/MONDO_0018178
intestinal lymphangiectasia (disease)
http://purl.obolibrary.org/obo/GARD_0012331 EquivalentTo 'intestinal lymphangiectasia (disease)'
http://purl.obolibrary.org/obo/MONDO_0018177
glioblastoma (disease)
http://purl.obolibrary.org/obo/GARD_0002491 EquivalentTo 'glioblastoma (disease)'
http://purl.obolibrary.org/obo/MONDO_0018186
ring chromosome
'ring chromosome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3360
http://purl.obolibrary.org/obo/MONDO_0018199
new-onset refractory status epilepticus
http://purl.obolibrary.org/obo/GARD_0012244 EquivalentTo 'new-onset refractory status epilepticus'
http://purl.obolibrary.org/obo/MONDO_0008607
triphalangeal thumbs-brachyectrodactyly syndrome
http://purl.obolibrary.org/obo/GARD_0005290 EquivalentTo 'triphalangeal thumbs-brachyectrodactyly syndrome'
http://purl.obolibrary.org/obo/MONDO_0008605
triphalangeal thumb, Nonopposable
http://purl.obolibrary.org/obo/GARD_0005288 EquivalentTo 'triphalangeal thumb, Nonopposable'
http://purl.obolibrary.org/obo/MONDO_0008618
mesomelic dwarfism, Reinhardt-Pfeiffer type
http://purl.obolibrary.org/obo/GARD_0003555 EquivalentTo 'mesomelic dwarfism, Reinhardt-Pfeiffer type'
http://purl.obolibrary.org/obo/MONDO_0008612
tuberous sclerosis 1
'tuberous sclerosis 1' SubClassOf 'eyelid degenerative disease'
http://purl.obolibrary.org/obo/GARD_0005380 EquivalentTo 'tuberous sclerosis 1'
http://purl.obolibrary.org/obo/MONDO_0008622
Tricho-retino-dento-digital syndrome
http://purl.obolibrary.org/obo/GARD_0000938 EquivalentTo 'Tricho-retino-dento-digital syndrome'
http://purl.obolibrary.org/obo/MONDO_0008620
upper limb mesomelic dysplasia
http://purl.obolibrary.org/obo/GARD_0002408 EquivalentTo 'upper limb mesomelic dysplasia'
http://purl.obolibrary.org/obo/MONDO_0008638
varicose disease
'varicose disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35114
http://purl.obolibrary.org/obo/MONDO_0008633
Muckle-Wells syndrome
http://purl.obolibrary.org/obo/GARD_0008472 EquivalentTo 'Muckle-Wells syndrome'
http://purl.obolibrary.org/obo/MONDO_0008648
ventricular tachycardia, familial
http://purl.obolibrary.org/obo/GARD_0002263 EquivalentTo 'ventricular tachycardia, familial'
http://purl.obolibrary.org/obo/MONDO_0008646
long QT syndrome 1
http://purl.obolibrary.org/obo/GARD_0003284 EquivalentTo 'long QT syndrome 1'
http://purl.obolibrary.org/obo/MONDO_0008645
ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome
http://purl.obolibrary.org/obo/GARD_0005472 EquivalentTo 'ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome'
'ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0008642
VACTERL/vater association
http://purl.obolibrary.org/obo/GARD_0005443 EquivalentTo 'VACTERL/vater association'
http://purl.obolibrary.org/obo/MONDO_0008656
benign paroxysmal positional nystagmus
http://purl.obolibrary.org/obo/GARD_0005915 EquivalentTo 'benign paroxysmal positional nystagmus'
http://purl.obolibrary.org/obo/MONDO_0008654
NYS4
http://purl.obolibrary.org/obo/GARD_0009603 EquivalentTo 'NYS4'
http://purl.obolibrary.org/obo/MONDO_0008650
posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
'posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0005487 EquivalentTo 'posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome'
http://purl.obolibrary.org/obo/MONDO_0008667
von Hippel-Lindau disease
'von Hippel-Lindau disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
'von Hippel-Lindau disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042983
http://purl.obolibrary.org/obo/MONDO_0008666
volvulus of Midgut
'volvulus of Midgut' EquivalentTo http://purl.obolibrary.org/obo/SCTID_458422009
'volvulus of Midgut' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C98961
http://purl.obolibrary.org/obo/MONDO_0008665
ptosis-vocal cord paralysis syndrome
http://purl.obolibrary.org/obo/GARD_0000427 EquivalentTo 'ptosis-vocal cord paralysis syndrome'
http://purl.obolibrary.org/obo/MONDO_0008662
autosomal dominant vitreoretinochoroidopathy
http://purl.obolibrary.org/obo/GARD_0005507 EquivalentTo 'autosomal dominant vitreoretinochoroidopathy'
http://purl.obolibrary.org/obo/MONDO_0008678
Williams syndrome
'Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/GARD_0007891 EquivalentTo 'Williams syndrome'
http://purl.obolibrary.org/obo/MONDO_0008675
Freeman-Sheldon syndrome
'Freeman-Sheldon syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0006466 EquivalentTo 'Freeman-Sheldon syndrome'
http://purl.obolibrary.org/obo/MONDO_0008673
acrofacial dysostosis, Weyers type
'acrofacial dysostosis, Weyers type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0000497 EquivalentTo 'acrofacial dysostosis, Weyers type'
http://purl.obolibrary.org/obo/MONDO_0008686
woolly hair (disease)
http://purl.obolibrary.org/obo/MESH_C536745 EquivalentTo 'woolly hair (disease)'
http://purl.obolibrary.org/obo/GARD_0005597 EquivalentTo 'woolly hair (disease)'
http://purl.obolibrary.org/obo/MONDO_0008685
Wolff-Parkinson-white syndrome (disease)
'Wolff-Parkinson-white syndrome (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001450
http://purl.obolibrary.org/obo/MONDO_0008683
WT3
http://purl.obolibrary.org/obo/MESH_C565991 EquivalentTo 'WT3'
http://purl.obolibrary.org/obo/MONDO_0008682
Denys-Drash syndrome
http://purl.obolibrary.org/obo/GARD_0005576 EquivalentTo 'Denys-Drash syndrome'
http://purl.obolibrary.org/obo/MONDO_0008681
WAGR syndrome
http://purl.obolibrary.org/obo/GARD_0001732 EquivalentTo 'WAGR syndrome'
http://purl.obolibrary.org/obo/MONDO_0018005
spastic paraplegia-Paget disease of bone syndrome
'spastic paraplegia-Paget disease of bone syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'spastic paraplegia-Paget disease of bone syndrome' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0008696
acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
'acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome' SubClassOf 'acanthosis nigricans (disease)'
http://purl.obolibrary.org/obo/GARD_0000453 EquivalentTo 'acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome'
'acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043003
http://purl.obolibrary.org/obo/MONDO_0008695
chorea-acanthocytosis
http://purl.obolibrary.org/obo/GARD_0003956 EquivalentTo 'chorea-acanthocytosis'
http://purl.obolibrary.org/obo/MONDO_0008693
ablepharon macrostomia syndrome
'ablepharon macrostomia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/GARD_0000003 EquivalentTo 'ablepharon macrostomia syndrome'
http://purl.obolibrary.org/obo/MONDO_0008692
abetalipoproteinemia
http://purl.obolibrary.org/obo/GARD_0000005 EquivalentTo 'abetalipoproteinemia'
http://purl.obolibrary.org/obo/MONDO_0018017
goblet cell carcinoma
http://purl.obolibrary.org/obo/GARD_0010414 EquivalentTo 'goblet cell carcinoma'
http://purl.obolibrary.org/obo/MONDO_0018030
tetrasomy 9p
'tetrasomy 9p' SubClassOf http://purl.obolibrary.org/obo/MONDO_0030502
http://purl.obolibrary.org/obo/MONDO_0018029
congenital factor XIII deficiency
http://purl.obolibrary.org/obo/GARD_0010766 EquivalentTo 'congenital factor XIII deficiency'
http://purl.obolibrary.org/obo/MONDO_0018028
tetrasomy 5p
'tetrasomy 5p' SubClassOf http://purl.obolibrary.org/obo/MONDO_0030502
http://purl.obolibrary.org/obo/MONDO_0018020
mercury poisoning
'mercury poisoning' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001810
http://purl.obolibrary.org/obo/MONDO_0018023
hemoglobin M disease
http://purl.obolibrary.org/obo/GARD_0013007 EquivalentTo 'hemoglobin M disease'
http://purl.obolibrary.org/obo/MONDO_0018031
granulomatous slack skin
'granulomatous slack skin' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35464
http://purl.obolibrary.org/obo/GARD_0010986 EquivalentTo 'granulomatous slack skin'
http://purl.obolibrary.org/obo/MONDO_0018034
thalidomide embryopathy
http://purl.obolibrary.org/obo/GARD_0002313 EquivalentTo 'thalidomide embryopathy'
http://purl.obolibrary.org/obo/MONDO_0018046
thrombocytopenia-robin sequence syndrome
http://purl.obolibrary.org/obo/GARD_0005193 EquivalentTo 'thrombocytopenia-robin sequence syndrome'
http://purl.obolibrary.org/obo/MONDO_0018048
Heparin-induced thrombocytopenia (disease)
http://purl.obolibrary.org/obo/GARD_0002650 EquivalentTo 'Heparin-induced thrombocytopenia (disease)'
http://purl.obolibrary.org/obo/MONDO_0018043
Thomas syndrome
'Thomas syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0005175 EquivalentTo 'Thomas syndrome'
http://purl.obolibrary.org/obo/MONDO_0018042
immunodeficiency syndrome with abnormal pigmentation
'immunodeficiency syndrome with abnormal pigmentation' SubClassOf 'rare genetic skin disease'
http://purl.obolibrary.org/obo/MONDO_0018045
Hoyeraal-Hreidarsson syndrome
http://purl.obolibrary.org/obo/GARD_0000346 EquivalentTo 'Hoyeraal-Hreidarsson syndrome'
http://purl.obolibrary.org/obo/MONDO_0018061
Trichodermodysplasia-dental alterations syndrome
http://purl.obolibrary.org/obo/GARD_0004369 EquivalentTo 'Trichodermodysplasia-dental alterations syndrome'
http://purl.obolibrary.org/obo/MONDO_0018063
nodular non-suppurative panniculitis
http://purl.obolibrary.org/obo/MESH_D010201 EquivalentTo 'nodular non-suppurative panniculitis'
http://purl.obolibrary.org/obo/GARD_0007879 EquivalentTo 'nodular non-suppurative panniculitis'
http://purl.obolibrary.org/obo/MONDO_0018062
autosomal dominant trichoodontoonychodysplasia-syndactyly
http://purl.obolibrary.org/obo/GARD_0005376 EquivalentTo 'autosomal dominant trichoodontoonychodysplasia-syndactyly'
http://purl.obolibrary.org/obo/MONDO_0018058
tracheal agenesis
'tracheal agenesis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_3987009
http://purl.obolibrary.org/obo/MONDO_0018054
familial atrial fibrillation
http://purl.obolibrary.org/obo/GARD_0009740 EquivalentTo 'familial atrial fibrillation'
http://purl.obolibrary.org/obo/MONDO_0018053
trichothiodystrophy
http://purl.obolibrary.org/obo/GARD_0012109 EquivalentTo 'trichothiodystrophy'
http://purl.obolibrary.org/obo/MONDO_0018055
pediatric hepatocellular carcinoma
http://purl.obolibrary.org/obo/GARD_0009331 EquivalentTo 'pediatric hepatocellular carcinoma'
http://purl.obolibrary.org/obo/MONDO_0018071
trisomy 18
http://purl.obolibrary.org/obo/GARD_0006321 EquivalentTo 'trisomy 18'
http://purl.obolibrary.org/obo/MONDO_0018068
trisomy 13
http://purl.obolibrary.org/obo/GARD_0007341 EquivalentTo 'trisomy 13'
http://purl.obolibrary.org/obo/MONDO_0018064
trigonocephaly-broad thumbs syndrome
http://purl.obolibrary.org/obo/GARD_0002756 EquivalentTo 'trigonocephaly-broad thumbs syndrome'
http://purl.obolibrary.org/obo/MONDO_0018067
triploidy
'triploidy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C85204
http://purl.obolibrary.org/obo/MONDO_0018066
trisomy X
'trisomy X' EquivalentTo http://purl.obolibrary.org/obo/SCTID_35111009
http://purl.obolibrary.org/obo/MONDO_0018083
transient tyrosinemia of the newborn
http://purl.obolibrary.org/obo/GARD_0005388 EquivalentTo 'transient tyrosinemia of the newborn'
http://purl.obolibrary.org/obo/MONDO_0018085
umbilical cord ulceration-intestinal atresia syndrome
http://purl.obolibrary.org/obo/MESH_C536938 EquivalentTo 'umbilical cord ulceration-intestinal atresia syndrome'
http://purl.obolibrary.org/obo/GARD_0005403 EquivalentTo 'umbilical cord ulceration-intestinal atresia syndrome'
http://purl.obolibrary.org/obo/MONDO_0018084
Uhl anomaly
http://purl.obolibrary.org/obo/GARD_0005393 EquivalentTo 'Uhl anomaly'
http://purl.obolibrary.org/obo/MONDO_0018079
thymic epithelial neoplasm
http://purl.obolibrary.org/obo/GARD_0005201 EquivalentTo 'thymic epithelial neoplasm'
http://purl.obolibrary.org/obo/MONDO_0018078
soft tissue sarcoma
'soft tissue sarcoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_424952003
'soft tissue sarcoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001968
http://purl.obolibrary.org/obo/GARD_0004898 EquivalentTo 'soft tissue sarcoma'
http://purl.obolibrary.org/obo/MONDO_0018077
tularemia
'tularemia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001444
http://purl.obolibrary.org/obo/MONDO_0018094
Waardenburg syndrome
'Waardenburg syndrome' SubClassOf 'pigmentation disorder with eye involvement, excluding albinism'
http://purl.obolibrary.org/obo/GARD_0005525 EquivalentTo 'Waardenburg syndrome'
'Waardenburg syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
'Waardenburg syndrome' SubClassOf 'rare genetic skin disease'
http://purl.obolibrary.org/obo/MONDO_0018096
Weill-Marchesani syndrome
http://purl.obolibrary.org/obo/GARD_0004936 EquivalentTo 'Weill-Marchesani syndrome'
'Weill-Marchesani syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
'Weill-Marchesani syndrome' SubClassOf 'acromelic dysplasia'
http://purl.obolibrary.org/obo/MONDO_0018090
double outlet left ventricle (disease)
http://purl.obolibrary.org/obo/GARD_0001907 EquivalentTo 'double outlet left ventricle (disease)'
http://purl.obolibrary.org/obo/MONDO_0018092
Vogt-Koyanagi-Harada disease
'Vogt-Koyanagi-Harada disease' SubClassOf 'autoimmune disease with skin involvement'
http://purl.obolibrary.org/obo/MONDO_0018089
double outlet right ventricle
http://purl.obolibrary.org/obo/GARD_0001908 EquivalentTo 'double outlet right ventricle'
http://purl.obolibrary.org/obo/MONDO_0018098
autosomal dominant limb-girdle muscular dystrophy type 1E (DES)
http://purl.obolibrary.org/obo/GARD_0012529 EquivalentTo 'autosomal dominant limb-girdle muscular dystrophy type 1E (DES)'
http://purl.obolibrary.org/obo/MONDO_0018097
West syndrome
http://purl.obolibrary.org/obo/GARD_0007887 EquivalentTo 'West syndrome'
http://purl.obolibrary.org/obo/MONDO_0014332
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
http://purl.obolibrary.org/obo/GARD_0013201 EquivalentTo 'hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency'
http://purl.obolibrary.org/obo/MONDO_0014356
mitochondrial complex III deficiency nuclear type 7
'mitochondrial complex III deficiency nuclear type 7' SubClassOf 'mitochondrial complex deficiency'
http://purl.obolibrary.org/obo/MONDO_0014353
PGM3-CDG
http://purl.obolibrary.org/obo/GARD_0004331 EquivalentTo 'PGM3-CDG'
http://purl.obolibrary.org/obo/MONDO_0014364
mitochondrial complex III deficiency nuclear type 8
'mitochondrial complex III deficiency nuclear type 8' SubClassOf 'mitochondrial complex deficiency'
http://purl.obolibrary.org/obo/MONDO_0014379
ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
http://purl.obolibrary.org/obo/GARD_0012931 EquivalentTo 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder'
http://purl.obolibrary.org/obo/MONDO_0014381
cholestasis, progressive familial intrahepatic, 4
http://purl.obolibrary.org/obo/GARD_0009803 EquivalentTo 'cholestasis, progressive familial intrahepatic, 4'
http://purl.obolibrary.org/obo/SCTID_238074007
'Wolman disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_238074007
http://purl.obolibrary.org/obo/MONDO_0014417
spinocerebellar ataxia type 38
http://purl.obolibrary.org/obo/GARD_0012369 EquivalentTo 'spinocerebellar ataxia type 38'
http://purl.obolibrary.org/obo/MONDO_0014410
spinocerebellar ataxia type 37
http://purl.obolibrary.org/obo/GARD_0012368 EquivalentTo 'spinocerebellar ataxia type 37'
http://purl.obolibrary.org/obo/MONDO_0014424
congenital deficiency in alpha-fetoprotein
http://purl.obolibrary.org/obo/MESH_C566300 EquivalentTo 'congenital deficiency in alpha-fetoprotein'
http://purl.obolibrary.org/obo/MONDO_0014432
Bardet-Biedl syndrome 2
http://purl.obolibrary.org/obo/GARD_0000821 EquivalentTo 'Bardet-Biedl syndrome 2'
http://purl.obolibrary.org/obo/MONDO_0014219
alacrima, achalasia, and mental retardation syndrome
http://purl.obolibrary.org/obo/GARD_0012404 EquivalentTo 'alacrima, achalasia, and mental retardation syndrome'
http://purl.obolibrary.org/obo/MONDO_0014212
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
http://purl.obolibrary.org/obo/MESH_C565374 EquivalentTo 'sulfite oxidase deficiency due to molybdenum cofactor deficiency type C'
http://purl.obolibrary.org/obo/MONDO_0014227
hypopigmentation-punctate palmoplantar keratoderma syndrome
http://purl.obolibrary.org/obo/GARD_0012384 EquivalentTo 'hypopigmentation-punctate palmoplantar keratoderma syndrome'
http://purl.obolibrary.org/obo/MONDO_0014226
idiopathic CD4 lymphocytopenia
http://purl.obolibrary.org/obo/GARD_0012375 EquivalentTo 'idiopathic CD4 lymphocytopenia'
http://purl.obolibrary.org/obo/MONDO_0014243
Prader-Willi syndrome due to point mutation
http://purl.obolibrary.org/obo/GARD_0013316 EquivalentTo 'Prader-Willi syndrome due to point mutation'
http://purl.obolibrary.org/obo/MONDO_0014252
familial hypobetalipoproteinemia 1
http://purl.obolibrary.org/obo/MESH_C566267 EquivalentTo 'familial hypobetalipoproteinemia 1'
http://purl.obolibrary.org/obo/GARD_0002876 EquivalentTo 'familial hypobetalipoproteinemia 1'
http://purl.obolibrary.org/obo/MONDO_0014263
Verheij syndrome
http://purl.obolibrary.org/obo/GARD_0012814 EquivalentTo 'Verheij syndrome'
http://purl.obolibrary.org/obo/MONDO_0014290
neurodegeneration with brain iron accumulation 6
http://purl.obolibrary.org/obo/GARD_0012571 EquivalentTo 'neurodegeneration with brain iron accumulation 6'
http://purl.obolibrary.org/obo/MONDO_0014294
chromosome 15q11.2 deletion syndrome
http://purl.obolibrary.org/obo/GARD_0010525 EquivalentTo 'chromosome 15q11.2 deletion syndrome'
http://purl.obolibrary.org/obo/MONDO_0004901
lingual-facial-buccal dyskinesia
'lingual-facial-buccal dyskinesia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_49386006
http://purl.obolibrary.org/obo/MONDO_0004905
intestinal disaccharidase deficiency
'intestinal disaccharidase deficiency' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34731
http://purl.obolibrary.org/obo/MONDO_0004914
median arcuate ligament syndrome
'median arcuate ligament syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/GARD_0012308 EquivalentTo 'median arcuate ligament syndrome'
http://purl.obolibrary.org/obo/MONDO_0004923
chronic inflammation of lacrimal passage
'chronic inflammation of lacrimal passage' EquivalentTo http://purl.obolibrary.org/obo/SCTID_267653001
http://purl.obolibrary.org/obo/MONDO_0004924
chronic canaliculitis
'chronic canaliculitis' SubClassOf 'infectious disease of the nervous system'
'chronic canaliculitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043885
http://purl.obolibrary.org/obo/MONDO_0004934
periostitis (disease)
'periostitis (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C13184
http://purl.obolibrary.org/obo/MONDO_0004933
hypoplastic left heart syndrome
http://purl.obolibrary.org/obo/GARD_0006739 EquivalentTo 'hypoplastic left heart syndrome'
http://purl.obolibrary.org/obo/MONDO_0004936
uterine inversion
'uterine inversion' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001446
http://purl.obolibrary.org/obo/MONDO_0004938
substance dependence
'substance dependence' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35458
http://purl.obolibrary.org/obo/MONDO_0004942
orbit lymphoma
'orbit lymphoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_13048006
http://purl.obolibrary.org/obo/GARD_0009719 EquivalentTo 'orbit lymphoma'
http://purl.obolibrary.org/obo/MONDO_0004944
tertiary neurosyphilis
'tertiary neurosyphilis' SubClassOf 'tertiary syphilis'
http://purl.obolibrary.org/obo/ICD10_A52.3 EquivalentTo 'tertiary neurosyphilis'
'tertiary neurosyphilis' SubClassOf 'tertiary syphilis'
http://purl.obolibrary.org/obo/GARD_0008729 EquivalentTo 'tertiary neurosyphilis'
'tertiary neurosyphilis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_26039008
'tertiary neurosyphilis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84935
http://purl.obolibrary.org/obo/MONDO_0004941
eosinophilia-myalgia syndrome
'eosinophilia-myalgia syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001316
http://purl.obolibrary.org/obo/MONDO_0004946
hypoglycemia
'hypoglycemia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3126
http://purl.obolibrary.org/obo/MONDO_0004949
neoplasm of mature B-cells
'neoplasm of mature B-cells' EquivalentTo http://purl.obolibrary.org/obo/SCTID_269476000
http://purl.obolibrary.org/obo/MONDO_0004948
B-cell chronic lymphocytic leukemia
http://purl.obolibrary.org/obo/GARD_0006104 EquivalentTo 'B-cell chronic lymphocytic leukemia'
http://purl.obolibrary.org/obo/MONDO_0004952
Hodgkins lymphoma
http://purl.obolibrary.org/obo/GARD_0002714 EquivalentTo 'Hodgkins lymphoma'
http://purl.obolibrary.org/obo/MONDO_0004965
acinar cell carcinoma
http://purl.obolibrary.org/obo/GARD_0008568 EquivalentTo 'acinar cell carcinoma'
http://purl.obolibrary.org/obo/MONDO_0004967
acute lymphoblastic leukemia (disease)
http://purl.obolibrary.org/obo/GARD_0000522 EquivalentTo 'acute lymphoblastic leukemia (disease)'
http://purl.obolibrary.org/obo/MONDO_0004960
monoclonal gammopathy
'monoclonal gammopathy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35548
http://purl.obolibrary.org/obo/MONDO_0004976
amyotrophic lateral sclerosis
http://purl.obolibrary.org/obo/GARD_0005786 EquivalentTo 'amyotrophic lateral sclerosis'
http://purl.obolibrary.org/obo/MONDO_0004971
adenoid cystic carcinoma
http://purl.obolibrary.org/obo/GARD_0005743 EquivalentTo 'adenoid cystic carcinoma'
http://purl.obolibrary.org/obo/MONDO_0004970
adenocarcinoma
'adenocarcinoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_443961001
http://purl.obolibrary.org/obo/MONDO_0014300
proximal myopathy with extrapyramidal signs
http://purl.obolibrary.org/obo/GARD_0012978 EquivalentTo 'proximal myopathy with extrapyramidal signs'
http://purl.obolibrary.org/obo/MONDO_0014306
vasculitis due to ADA2 deficiency
http://purl.obolibrary.org/obo/GARD_0012383 EquivalentTo 'vasculitis due to ADA2 deficiency'
http://purl.obolibrary.org/obo/MONDO_0004997
chondroblastoma (disease)
http://purl.obolibrary.org/obo/GARD_0006047 EquivalentTo 'chondroblastoma (disease)'
http://purl.obolibrary.org/obo/MONDO_0014310
hereditary sclerosing poikiloderma with tendon and pulmonary involvement
http://purl.obolibrary.org/obo/GARD_0013218 EquivalentTo 'hereditary sclerosing poikiloderma with tendon and pulmonary involvement'
http://purl.obolibrary.org/obo/MONDO_0004767
vesiculitis
'vesiculitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C12787
http://purl.obolibrary.org/obo/MONDO_0004766
status asthmaticus
'status asthmaticus' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008590
http://purl.obolibrary.org/obo/MONDO_0004779
epididymitis (disease)
'epididymitis (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C12328
http://purl.obolibrary.org/obo/MONDO_0004770
exophthalmos (disease)
'exophthalmos (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C118763
http://purl.obolibrary.org/obo/MONDO_0004781
acute myocardial infarction
'acute myocardial infarction' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008583
http://purl.obolibrary.org/obo/MONDO_0014109
NGLY1-deficiency
http://purl.obolibrary.org/obo/GARD_0012315 EquivalentTo 'NGLY1-deficiency'
http://purl.obolibrary.org/obo/MONDO_0014121
autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
http://purl.obolibrary.org/obo/GARD_0013222 EquivalentTo 'autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures'
http://purl.obolibrary.org/obo/MONDO_0014144
autosomal recessive limb-girdle muscular dystrophy type 2S
http://purl.obolibrary.org/obo/GARD_0012543 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2S'
http://purl.obolibrary.org/obo/MONDO_0014142
autosomal recessive limb-girdle muscular dystrophy type 2T
http://purl.obolibrary.org/obo/GARD_0012544 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2T'
http://purl.obolibrary.org/obo/MONDO_0014158
nephronophthisis 16
'nephronophthisis 16' EquivalentTo http://purl.obolibrary.org/obo/SCTID_444558002
http://purl.obolibrary.org/obo/MONDO_0014157
mandibular hypoplasia-deafness-progeroid syndrome
http://purl.obolibrary.org/obo/GARD_0010989 EquivalentTo 'mandibular hypoplasia-deafness-progeroid syndrome'
http://purl.obolibrary.org/obo/MONDO_0014150
childhood onset epileptic encephalopathy
http://purl.obolibrary.org/obo/GARD_0013197 EquivalentTo 'childhood onset epileptic encephalopathy'
http://purl.obolibrary.org/obo/MONDO_0014169
dyschromatosis universalis hereditaria 3
'dyschromatosis universalis hereditaria 3' SubClassOf 'dyschromatosis universalis'
'dyschromatosis universalis hereditaria 3' SubClassOf 'dyschromatosis universalis hereditaria'
http://purl.obolibrary.org/obo/MONDO_0014162
infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
http://purl.obolibrary.org/obo/GARD_0012892 EquivalentTo 'infantile hypertrophic cardiomyopathy due to MRPL44 deficiency'
http://purl.obolibrary.org/obo/MONDO_0014165
multiple congenital anomalies-hypotonia-seizures syndrome 3
'multiple congenital anomalies-hypotonia-seizures syndrome 3' SubClassOf 'syndromic dyslipidemia'
'multiple congenital anomalies-hypotonia-seizures syndrome 3' SubClassOf 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation'
'multiple congenital anomalies-hypotonia-seizures syndrome 3' SubClassOf 'congenital disorder of glycosylation-related bone disorder'
http://purl.obolibrary.org/obo/MONDO_0014194
mitochondrial complex III deficiency nuclear type 6
'mitochondrial complex III deficiency nuclear type 6' SubClassOf 'mitochondrial complex deficiency'
http://purl.obolibrary.org/obo/MONDO_0014199
epileptic encephalopathy, early infantile, 17
http://purl.obolibrary.org/obo/GARD_0013378 EquivalentTo 'epileptic encephalopathy, early infantile, 17'
http://purl.obolibrary.org/obo/MONDO_0014198
mitochondrial DNA depletion syndrome 13
http://purl.obolibrary.org/obo/GARD_0013298 EquivalentTo 'mitochondrial DNA depletion syndrome 13'
http://purl.obolibrary.org/obo/MONDO_0014196
Hartsfield-Bixler-Demyer syndrome
'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'other syndrome with a central nervous system malformation as major feature'
'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'rare genetic syndromic intellectual disability'
http://purl.obolibrary.org/obo/NCIT_C9243
'hypertension-associated pregnancy disorder' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C9243
'hypertension, pregnancy-induced' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C9243
http://purl.obolibrary.org/obo/MONDO_0004803
disseminated eosinophilic collagen disease
'disseminated eosinophilic collagen disease' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0022202
http://purl.obolibrary.org/obo/MONDO_0004805
leukocyte disease
'leukocyte disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_54097007
http://purl.obolibrary.org/obo/MONDO_0004819
indolent myeloma
'indolent myeloma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C7150
http://purl.obolibrary.org/obo/MONDO_0004821
nasopharyngeal disease
'nasopharyngeal disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35723
http://purl.obolibrary.org/obo/MONDO_0004823
dextrocardia
http://purl.obolibrary.org/obo/GARD_0001827 EquivalentTo 'dextrocardia'
http://purl.obolibrary.org/obo/MONDO_0004829
Krukenberg carcinoma
http://purl.obolibrary.org/obo/MESH_D007725 EquivalentTo 'Krukenberg carcinoma'
http://purl.obolibrary.org/obo/GARD_0008627 EquivalentTo 'Krukenberg carcinoma'
http://purl.obolibrary.org/obo/MONDO_0004833
plantar fasciitis
'plantar fasciitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001909
http://purl.obolibrary.org/obo/MONDO_0004844
oral mucosa leukoplakia
http://purl.obolibrary.org/obo/MESH_D007972 EquivalentTo 'oral mucosa leukoplakia'
http://purl.obolibrary.org/obo/GARD_0007260 EquivalentTo 'oral mucosa leukoplakia'
http://purl.obolibrary.org/obo/MONDO_0004846
placental abruption (disease)
'placental abruption (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001754
http://purl.obolibrary.org/obo/MONDO_0004840
non-congenital cyst of kidney
'non-congenital cyst of kidney' EquivalentTo http://purl.obolibrary.org/obo/SCTID_105999006
http://purl.obolibrary.org/obo/MONDO_0004842
stomatitis
'stomatitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001904
http://purl.obolibrary.org/obo/MONDO_0004855
tenosynovitis
'tenosynovitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001435
http://purl.obolibrary.org/obo/MONDO_0004868
biliary tract disease
'biliary tract disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_105997008
http://purl.obolibrary.org/obo/MONDO_0004860
vitreous disease
'vitreous disease' SubClassOf 'connective tissue disease'
'vitreous disease' SubClassOf 'eye disease'
'vitreous disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044137
http://purl.obolibrary.org/obo/MONDO_0004878
female breast upper-outer quadrant cancer
'female breast upper-outer quadrant cancer' EquivalentTo http://purl.obolibrary.org/obo/SCTID_188154003
http://purl.obolibrary.org/obo/MONDO_0004646
decubitus ulcer
'decubitus ulcer' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0007067
http://purl.obolibrary.org/obo/MONDO_0004657
disseminated chorioretinitis
'disseminated chorioretinitis' EquivalentTo 'chorioretinitis (disease)' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0022202)
'disseminated chorioretinitis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0022202
http://purl.obolibrary.org/obo/MONDO_0004656
rubella
'rubella' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1002026
http://purl.obolibrary.org/obo/MONDO_0004652
bacterial pneumonia
'bacterial pneumonia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001272
http://purl.obolibrary.org/obo/MONDO_0004668
fascioliasis
'fascioliasis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001324
http://purl.obolibrary.org/obo/MONDO_0004664
helminthiasis
'helminthiasis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001342
http://purl.obolibrary.org/obo/MONDO_0004661
trachea carcinoma in situ
'trachea carcinoma in situ' SubClassOf 'rare respiratory disease'
http://purl.obolibrary.org/obo/MONDO_0004674
chorioretinitis (disease)
http://purl.obolibrary.org/obo/GARD_0006060 EquivalentTo 'chorioretinitis (disease)'
http://purl.obolibrary.org/obo/MONDO_0004673
lower lip cancer
'lower lip cancer' EquivalentTo http://purl.obolibrary.org/obo/SCTID_363373004
http://purl.obolibrary.org/obo/MONDO_0014005
immunoglobulin-mediated membranoproliferative glomerulonephritis
'immunoglobulin-mediated membranoproliferative glomerulonephritis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C123055
http://purl.obolibrary.org/obo/MONDO_0014006
intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
http://purl.obolibrary.org/obo/GARD_0013043 EquivalentTo 'intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome'
http://purl.obolibrary.org/obo/MONDO_0004693
cervix uteri carcinoma in situ
'cervix uteri carcinoma in situ' EquivalentTo 'in situ carcinoma' and ('disease has location' some http://purl.obolibrary.org/obo/UBERON_0000002)
'cervix uteri carcinoma in situ' SubClassOf 'uterus carcinoma in situ'
http://purl.obolibrary.org/obo/COHD_194611 EquivalentTo 'cervix uteri carcinoma in situ'
'cervix uteri carcinoma in situ' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254889004
'cervix uteri carcinoma in situ' SubClassOf 'cervical squamous cell carcinoma'
http://linkedlifedata.com/resource/umls/id/C0851140 EquivalentTo 'cervix uteri carcinoma in situ'
http://purl.obolibrary.org/obo/DOID_8991 EquivalentTo 'cervix uteri carcinoma in situ'
'cervix uteri carcinoma in situ' SubClassOf 'squamous cell carcinoma'
http://linkedlifedata.com/resource/umls/id/C0334245 EquivalentTo 'cervix uteri carcinoma in situ'
'cervix uteri carcinoma in situ' SubClassOf 'in situ carcinoma'
'cervix uteri carcinoma in situ' EquivalentTo 'in situ carcinoma' and 'squamous cell carcinoma'
http://purl.obolibrary.org/obo/MONDO_0004694
hepatopulmonary syndrome
'hepatopulmonary syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001346
http://purl.obolibrary.org/obo/MONDO_0004691
autosomal dominant polycystic kidney disease
'autosomal dominant polycystic kidney disease' SubClassOf 'kidney disease'
'autosomal dominant polycystic kidney disease' SubClassOf 'rare genetic disorder with obstructive azoospermia'
'autosomal dominant polycystic kidney disease' SubClassOf 'familial cystic renal disease'
'autosomal dominant polycystic kidney disease' EquivalentTo http://www.orpha.net/ORDO/Orphanet_730
'autosomal dominant polycystic kidney disease' SubClassOf 'rare male fertility disorder with obstructive azoospermia'
'autosomal dominant polycystic kidney disease' SubClassOf 'cystic kidney disease'
'autosomal dominant polycystic kidney disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001496
http://purl.obolibrary.org/obo/MONDO_0014012
Charcot-Marie-tooth disease axonal type 2Q
http://purl.obolibrary.org/obo/GARD_0012446 EquivalentTo 'Charcot-Marie-tooth disease axonal type 2Q'
http://purl.obolibrary.org/obo/MONDO_0014023
congenital muscular dystrophy with intellectual disability and severe epilepsy
http://purl.obolibrary.org/obo/GARD_0012416 EquivalentTo 'congenital muscular dystrophy with intellectual disability and severe epilepsy'
http://purl.obolibrary.org/obo/MONDO_0014034
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
http://purl.obolibrary.org/obo/GARD_0012815 EquivalentTo 'severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome'
http://purl.obolibrary.org/obo/MONDO_0014044
dysmorphism-conductive hearing loss-heart defect syndrome
'dysmorphism-conductive hearing loss-heart defect syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0014063
mitochondrial complex III deficiency nuclear type 2
'mitochondrial complex III deficiency nuclear type 2' SubClassOf 'mitochondrial complex deficiency'
http://purl.obolibrary.org/obo/MONDO_0014066
mitochondrial complex III deficiency nuclear type 5
'mitochondrial complex III deficiency nuclear type 5' SubClassOf 'mitochondrial complex deficiency'
http://purl.obolibrary.org/obo/MONDO_0014065
mitochondrial complex III deficiency nuclear type 4
'mitochondrial complex III deficiency nuclear type 4' SubClassOf 'mitochondrial complex deficiency'
http://purl.obolibrary.org/obo/MONDO_0014064
mitochondrial complex III deficiency nuclear type 3
'mitochondrial complex III deficiency nuclear type 3' SubClassOf 'mitochondrial complex deficiency'
http://purl.obolibrary.org/obo/MONDO_0014074
Charcot-Marie-tooth disease dominant intermediate f
http://purl.obolibrary.org/obo/GARD_0009206 EquivalentTo 'Charcot-Marie-tooth disease dominant intermediate f'
http://purl.obolibrary.org/obo/MONDO_0014084
ataxia with oculomotor apraxia type 3
http://purl.obolibrary.org/obo/GARD_0013112 EquivalentTo 'ataxia with oculomotor apraxia type 3'
http://purl.obolibrary.org/obo/MONDO_0014098
CIDEC-related familial partial lipodystrophy
http://purl.obolibrary.org/obo/GARD_0013125 EquivalentTo 'CIDEC-related familial partial lipodystrophy'
http://purl.obolibrary.org/obo/MONDO_0004702
uterine cervix leukoplakia
'uterine cervix leukoplakia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_50923006
http://purl.obolibrary.org/obo/MONDO_0004714
atrophic muscular disease
'atrophic muscular disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84574
http://purl.obolibrary.org/obo/MONDO_0004717
peliosis hepatis
'peliosis hepatis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001387
http://purl.obolibrary.org/obo/MONDO_0004721
liver neoplasm
'liver neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001513
http://purl.obolibrary.org/obo/MONDO_0004720
variola minor infection
'variola minor infection' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34365
http://purl.obolibrary.org/obo/MONDO_0004726
liver inflammatory myofibroblastic tumor
'liver inflammatory myofibroblastic tumor' EquivalentTo http://purl.obolibrary.org/obo/SCTID_717329009
http://purl.obolibrary.org/obo/MONDO_0004736
inherited amino acid metabolic disorder
http://purl.obolibrary.org/obo/GARD_0006770 EquivalentTo 'inherited amino acid metabolic disorder'
http://purl.obolibrary.org/obo/MONDO_0004747
cleft lip (disease)
'cleft lip (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003959
http://purl.obolibrary.org/obo/MONDO_0004743
hyperhomocysteinemia
'hyperhomocysteinemia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_419503008
http://purl.obolibrary.org/obo/MONDO_0004742
primary cerebellar degeneration
'primary cerebellar degeneration' SubClassOf 'neurodegenerative disease'
'primary cerebellar degeneration' SubClassOf 'cerebellar degeneration'
http://purl.obolibrary.org/obo/MONDO_0004755
monieziasis
'monieziasis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001372
http://purl.obolibrary.org/obo/MONDO_0004522
peritonitis
'peritonitis' SubClassOf 'inflammatory disease'
'peritonitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008588
'peritonitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043786
http://purl.obolibrary.org/obo/MONDO_0004544
chordoid meningioma
'chordoid meningioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000176
http://purl.obolibrary.org/obo/MONDO_0004540
epithelioid malignant peripheral nerve sheath tumor
'epithelioid malignant peripheral nerve sheath tumor' EquivalentTo http://purl.obolibrary.org/obo/SCTID_404038007
'epithelioid malignant peripheral nerve sheath tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000245
http://purl.obolibrary.org/obo/MONDO_0004555
kidney angiomyolipoma
'kidney angiomyolipoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000312
http://purl.obolibrary.org/obo/MONDO_0004551
Meckel diverticulitis
'Meckel diverticulitis' SubClassOf 'gastroenteritis'
'Meckel diverticulitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043579
http://purl.obolibrary.org/obo/MONDO_0004565
intestinal obstruction
'intestinal obstruction' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C9175
http://purl.obolibrary.org/obo/MONDO_0004574
pyridoxine deficiency anemia
'pyridoxine deficiency anemia' SubClassOf 'nutritional deficiency disease'
http://purl.obolibrary.org/obo/MESH_D026681 EquivalentTo 'pyridoxine deficiency anemia'
http://purl.obolibrary.org/obo/GARD_0004616 EquivalentTo 'pyridoxine deficiency anemia'
'pyridoxine deficiency anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042976
'pyridoxine deficiency anemia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C85221
http://purl.obolibrary.org/obo/MONDO_0004570
intestinal volvulus
'intestinal volvulus' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000989
http://purl.obolibrary.org/obo/MONDO_0004586
rheumatoid lung disease
'rheumatoid lung disease' SubClassOf 'disease arises from feature' some 'rheumatoid arthritis'
'rheumatoid lung disease' EquivalentTo 'lung disease' and ('disease arises from feature' some 'rheumatoid arthritis')
http://purl.obolibrary.org/obo/MONDO_0004582
rheumatic myocarditis
'rheumatic myocarditis' SubClassOf 'autoimmune myocarditis'
'rheumatic myocarditis' SubClassOf 'disease arises from feature' some 'rheumatoid arthritis'
'rheumatic myocarditis' EquivalentTo 'myocarditis' and ('disease arises from feature' some 'rheumatoid arthritis')
http://purl.obolibrary.org/obo/MONDO_0004597
pulmonary embolism and infarction
http://purl.obolibrary.org/obo/MESH_D054060 EquivalentTo 'pulmonary embolism and infarction'
'pulmonary embolism and infarction' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001408
http://purl.obolibrary.org/obo/MONDO_0004592
impetigo
'impetigo' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000714
http://purl.obolibrary.org/obo/MONDO_0004591
impetigo herpetiformis
'impetigo herpetiformis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000715
http://purl.obolibrary.org/obo/MONDO_0004601
ulcer of lower limbs
'ulcer of lower limbs' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0007068
http://purl.obolibrary.org/obo/MONDO_0004609
herpes simplex infectious disease
'herpes simplex infectious disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1002022
http://purl.obolibrary.org/obo/MONDO_0004605
chronic ulcer of skin
'chronic ulcer of skin' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0007066
http://purl.obolibrary.org/obo/MONDO_0004608
oropharynx cancer
'oropharynx cancer' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001931
http://purl.obolibrary.org/obo/MONDO_0004612
malignant histiocytosis
'malignant histiocytosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001499
http://purl.obolibrary.org/obo/MONDO_0004619
measles
'measles' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1002025
http://purl.obolibrary.org/obo/MONDO_0004625
phlebitis
'phlebitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001395
http://purl.obolibrary.org/obo/MONDO_0004627
duodenitis
'duodenitis' SubClassOf 'gastroenteritis'
'duodenitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043579
http://purl.obolibrary.org/obo/MONDO_0004639
perinatal necrotizing enterocolitis
http://purl.obolibrary.org/obo/GARD_0009767 EquivalentTo 'perinatal necrotizing enterocolitis'
http://purl.obolibrary.org/obo/MONDO_0004405
Barrett adenocarcinoma
'Barrett adenocarcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001939
http://purl.obolibrary.org/obo/MONDO_0004411
duodenal gastrin-producing neuroendocrine tumor
'duodenal gastrin-producing neuroendocrine tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000224
http://purl.obolibrary.org/obo/MONDO_0004431
hemarthrosis
'hemarthrosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001344
http://purl.obolibrary.org/obo/MONDO_0004471
septic arthritis
'septic arthritis' EquivalentTo 'arthritis' and ('disease arises from feature' some http://purl.obolibrary.org/obo/HP_0100806)
'septic arthritis' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/HP_0001369
'septic arthritis' SubClassOf 'arthritis'
'septic arthritis' SubClassOf 'disease arises from feature' some http://purl.obolibrary.org/obo/HP_0100806
'septic arthritis' SubClassOf 'realized in response to stimulus' some 'bacterial infectious disease'
'septic arthritis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001351
'septic arthritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042485
'septic arthritis' EquivalentTo 'arthritis' and ('realized in response to stimulus' some 'bacterial infectious disease')
http://purl.obolibrary.org/obo/MONDO_0004492
mediastinitis
'mediastinitis' SubClassOf 'thoracic disease'
'mediastinitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043707
http://purl.obolibrary.org/obo/MONDO_0004508
periapical periodontitis
'periapical periodontitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001391
http://purl.obolibrary.org/obo/MONDO_0018927
SUNCT syndrome
http://purl.obolibrary.org/obo/GARD_0009257 EquivalentTo 'SUNCT syndrome'
http://purl.obolibrary.org/obo/MONDO_0018929
medial condensing osteitis of the clavicle
http://purl.obolibrary.org/obo/GARD_0010910 EquivalentTo 'medial condensing osteitis of the clavicle'
http://purl.obolibrary.org/obo/MONDO_0018924
microphthalmia, Lenz type
'microphthalmia, Lenz type' SubClassOf 'microphthalmia, syndromic 2'
'microphthalmia, Lenz type' SubClassOf 'syndromic microphthalmia'
'microphthalmia, Lenz type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/GARD_0000087 EquivalentTo 'microphthalmia, Lenz type'
http://purl.obolibrary.org/obo/MONDO_0018923
22q11.2 deletion syndrome
'22q11.2 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/GARD_0010299 EquivalentTo '22q11.2 deletion syndrome'
http://purl.obolibrary.org/obo/MONDO_0018925
familial or sporadic hemiplegic migraine
'familial or sporadic hemiplegic migraine' SubClassOf 'migraine with or without aura, susceptibility to, 6'
http://purl.obolibrary.org/obo/MONDO_0018920
peripartum cardiomyopathy
http://purl.obolibrary.org/obo/GARD_0000220 EquivalentTo 'peripartum cardiomyopathy'
http://purl.obolibrary.org/obo/MONDO_0018922
cold agglutinin disease
http://purl.obolibrary.org/obo/GARD_0006130 EquivalentTo 'cold agglutinin disease'
http://purl.obolibrary.org/obo/MONDO_0018921
Meckel syndrome
'Meckel syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043009
http://purl.obolibrary.org/obo/GARD_0003436 EquivalentTo 'Meckel syndrome'
http://purl.obolibrary.org/obo/MONDO_0018938
mucopolysaccharidosis type 4
http://purl.obolibrary.org/obo/GARD_0012562 EquivalentTo 'mucopolysaccharidosis type 4'
http://purl.obolibrary.org/obo/MONDO_0018935
hairy cell leukemia
http://purl.obolibrary.org/obo/GARD_0006560 EquivalentTo 'hairy cell leukemia'
http://purl.obolibrary.org/obo/MESH_D007943 EquivalentTo 'hairy cell leukemia'
http://purl.obolibrary.org/obo/MONDO_0018937
mucopolysaccharidosis type 3
http://purl.obolibrary.org/obo/GARD_0003807 EquivalentTo 'mucopolysaccharidosis type 3'
'mucopolysaccharidosis type 3' EquivalentTo http://purl.obolibrary.org/obo/SCTID_88393000
http://purl.obolibrary.org/obo/MONDO_0018936
osteoblastoma (disease)
'osteoblastoma (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000410
http://purl.obolibrary.org/obo/MONDO_0018930
monosomy 21
'monosomy 21' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C36469
http://purl.obolibrary.org/obo/GARD_0010860 EquivalentTo 'monosomy 21'
http://purl.obolibrary.org/obo/MONDO_0018933
Mazabraud syndrome
'Mazabraud syndrome' SubClassOf 'rare genetic bone disease'
'Mazabraud syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0018948
multiminicore myopathy
http://purl.obolibrary.org/obo/GARD_0009130 EquivalentTo 'multiminicore myopathy'
http://purl.obolibrary.org/obo/MONDO_0018941
furuncular myiasis
http://purl.obolibrary.org/obo/GARD_0002418 EquivalentTo 'furuncular myiasis'
http://purl.obolibrary.org/obo/MONDO_0018944
gestational trophoblastic neoplasm
http://purl.obolibrary.org/obo/GARD_0006498 EquivalentTo 'gestational trophoblastic neoplasm'
http://purl.obolibrary.org/obo/MONDO_0018943
myofibrillar myopathy (disease)
http://purl.obolibrary.org/obo/GARD_0010529 EquivalentTo 'myofibrillar myopathy (disease)'
http://purl.obolibrary.org/obo/MONDO_0018940
congenital myasthenic syndrome
http://purl.obolibrary.org/obo/GARD_0000098 EquivalentTo 'congenital myasthenic syndrome'
http://purl.obolibrary.org/obo/MONDO_0018959
potassium-aggravated myotonia
http://purl.obolibrary.org/obo/GARD_0004459 EquivalentTo 'potassium-aggravated myotonia'
http://purl.obolibrary.org/obo/MONDO_0018958
nemaline myopathy
http://purl.obolibrary.org/obo/GARD_0012033 EquivalentTo 'nemaline myopathy'
http://purl.obolibrary.org/obo/MONDO_0018954
Loeys-Dietz syndrome
http://purl.obolibrary.org/obo/GARD_0010788 EquivalentTo 'Loeys-Dietz syndrome'
http://purl.obolibrary.org/obo/MONDO_0018951
distal myopathy with vocal cord weakness
http://purl.obolibrary.org/obo/GARD_0001887 EquivalentTo 'distal myopathy with vocal cord weakness'
http://purl.obolibrary.org/obo/MONDO_0018950
3-methylcrotonyl-CoA carboxylase deficiency
'3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'disease caused by disruption of' some http://purl.obolibrary.org/obo/GO_0004485
'3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'disease disrupting molecular activity'
http://purl.obolibrary.org/obo/MONDO_0018969
Craniorachischisis (disease)
http://purl.obolibrary.org/obo/GARD_0010504 EquivalentTo 'Craniorachischisis (disease)'
http://purl.obolibrary.org/obo/MONDO_0018963
hereditary methemoglobinemia
http://purl.obolibrary.org/obo/GARD_0002659 EquivalentTo 'hereditary methemoglobinemia'
http://purl.obolibrary.org/obo/MONDO_0018961
familial melanoma
http://purl.obolibrary.org/obo/GARD_0003460 EquivalentTo 'familial melanoma'
http://purl.obolibrary.org/obo/MONDO_0004334
non-functional pancreatic neuroendocrine tumor
'non-functional pancreatic neuroendocrine tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000398
http://purl.obolibrary.org/obo/MONDO_0004331
bladder urachal adenocarcinoma
http://purl.obolibrary.org/obo/MESH_C536474 EquivalentTo 'bladder urachal adenocarcinoma'
http://purl.obolibrary.org/obo/MONDO_0018978
IgG4-related mediastinitis
http://purl.obolibrary.org/obo/GARD_0008337 EquivalentTo 'IgG4-related mediastinitis'
http://purl.obolibrary.org/obo/MONDO_0018975
neurofibromatosis type 1
'neurofibromatosis type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/GARD_0007866 EquivalentTo 'neurofibromatosis type 1'
http://purl.obolibrary.org/obo/MONDO_0018974
paraneoplastic pemphigus
'paraneoplastic pemphigus' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008602
http://purl.obolibrary.org/obo/MONDO_0018987
granulomatous mastitis
http://purl.obolibrary.org/obo/GARD_0013119 EquivalentTo 'granulomatous mastitis'
http://purl.obolibrary.org/obo/MONDO_0018997
Noonan syndrome
'Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/GARD_0010955 EquivalentTo 'Noonan syndrome'
http://purl.obolibrary.org/obo/MONDO_0018996
spinocerebellar ataxia with axonal neuropathy type 2
http://purl.obolibrary.org/obo/GARD_0012860 EquivalentTo 'spinocerebellar ataxia with axonal neuropathy type 2'
http://purl.obolibrary.org/obo/MONDO_0018998
Leber congenital amaurosis
http://purl.obolibrary.org/obo/GARD_0000634 EquivalentTo 'Leber congenital amaurosis'
http://purl.obolibrary.org/obo/MONDO_0018993
Charcot-Marie-tooth disease type 2
http://purl.obolibrary.org/obo/GARD_0012431 EquivalentTo 'Charcot-Marie-tooth disease type 2'
http://purl.obolibrary.org/obo/MONDO_0018995
Charcot-Marie-tooth disease type 4
http://purl.obolibrary.org/obo/GARD_0012440 EquivalentTo 'Charcot-Marie-tooth disease type 4'
http://purl.obolibrary.org/obo/MONDO_0018994
Charcot-Marie-tooth disease type X
http://purl.obolibrary.org/obo/GARD_0012444 EquivalentTo 'Charcot-Marie-tooth disease type X'
http://purl.obolibrary.org/obo/MONDO_0004381
pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia
'pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_473418001
http://purl.obolibrary.org/obo/MONDO_0004380
dendritic cell sarcoma
'dendritic cell sarcoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_446643000
http://purl.obolibrary.org/obo/MONDO_0004382
laryngeal disease
'laryngeal disease' SubClassOf 'upper respiratory tract disease'
'laryngeal disease' SubClassOf 'upper respiratory tract disease'
http://purl.obolibrary.org/obo/MONDO_0018810
lethal hydranencephaly-diaphragmatic hernia syndrome
'lethal hydranencephaly-diaphragmatic hernia syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'lethal hydranencephaly-diaphragmatic hernia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043009
http://purl.obolibrary.org/obo/MONDO_0018824
pyoderma gangrenosum
'pyoderma gangrenosum' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0006835
http://purl.obolibrary.org/obo/MONDO_0018827
familial chilblain lupus
'familial chilblain lupus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0018835
nodular regenerative hyperplasia of the liver
http://purl.obolibrary.org/obo/GARD_0010929 EquivalentTo 'nodular regenerative hyperplasia of the liver'
http://purl.obolibrary.org/obo/MONDO_0018838
lissencephaly (disease)
http://purl.obolibrary.org/obo/GARD_0012291 EquivalentTo 'lissencephaly (disease)'
http://purl.obolibrary.org/obo/GARD_0007300 EquivalentTo 'lissencephaly (disease)'
http://purl.obolibrary.org/obo/MONDO_0018846
penile agenesis
http://purl.obolibrary.org/obo/GARD_0004272 EquivalentTo 'penile agenesis'
'penile agenesis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_59981001
http://purl.obolibrary.org/obo/MONDO_0018849
dentinogenesis imperfecta (disease)
http://purl.obolibrary.org/obo/GARD_0006258 EquivalentTo 'dentinogenesis imperfecta (disease)'
http://purl.obolibrary.org/obo/MONDO_0018848
IgG4-related retroperitoneal fibrosis
http://purl.obolibrary.org/obo/GARD_0009568 EquivalentTo 'IgG4-related retroperitoneal fibrosis'
http://purl.obolibrary.org/obo/MONDO_0018844
urachal cyst (disease)
http://purl.obolibrary.org/obo/GARD_0005425 EquivalentTo 'urachal cyst (disease)'
http://purl.obolibrary.org/obo/MONDO_0004216
pineal region germinoma
http://purl.obolibrary.org/obo/GARD_0002005 EquivalentTo 'pineal region germinoma'
http://linkedlifedata.com/resource/umls/id/C0854912 EquivalentTo 'pineal region germinoma'
http://purl.obolibrary.org/obo/MONDO_0018859
Leigh disease
http://purl.obolibrary.org/obo/GARD_0006877 EquivalentTo 'Leigh disease'
http://purl.obolibrary.org/obo/MONDO_0004229
acantholytic variant squamous cell breast carcinoma
'acantholytic variant squamous cell breast carcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001969
http://purl.obolibrary.org/obo/MONDO_0004225
monoclonal gammopathy of uncertain significance
http://purl.obolibrary.org/obo/GARD_0007034 EquivalentTo 'monoclonal gammopathy of uncertain significance'
http://purl.obolibrary.org/obo/MONDO_0018864
Kikuchi-Fujimoto disease
http://purl.obolibrary.org/obo/GARD_0006834 EquivalentTo 'Kikuchi-Fujimoto disease'
http://purl.obolibrary.org/obo/MONDO_0018866
Aicardi-Goutieres syndrome
http://purl.obolibrary.org/obo/GARD_0000575 EquivalentTo 'Aicardi-Goutieres syndrome'
http://purl.obolibrary.org/obo/MONDO_0004235
diverticulitis
'diverticulitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001460
http://purl.obolibrary.org/obo/MONDO_0004234
chronic lymphoproliferative disorder of NK-cells
'chronic lymphoproliferative disorder of NK-cells' EquivalentTo http://purl.obolibrary.org/obo/SCTID_722955006
http://purl.obolibrary.org/obo/MONDO_0018879
lichen planopilaris
http://purl.obolibrary.org/obo/GARD_0003247 EquivalentTo 'lichen planopilaris'
http://purl.obolibrary.org/obo/MONDO_0018876
mantle cell lymphoma
http://purl.obolibrary.org/obo/GARD_0006969 EquivalentTo 'mantle cell lymphoma'
'mantle cell lymphoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001469
http://purl.obolibrary.org/obo/MONDO_0018875
Li-Fraumeni syndrome
http://purl.obolibrary.org/obo/GARD_0006902 EquivalentTo 'Li-Fraumeni syndrome'
http://purl.obolibrary.org/obo/MONDO_0018878
branchiootic syndrome
http://purl.obolibrary.org/obo/GARD_0010148 EquivalentTo 'branchiootic syndrome'
'branchiootic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0018870
arterial calcification of infancy
http://purl.obolibrary.org/obo/GARD_0008380 EquivalentTo 'arterial calcification of infancy'
http://purl.obolibrary.org/obo/MONDO_0004249
pediatric supratentorial ependymoma
'pediatric supratentorial ependymoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008495
http://purl.obolibrary.org/obo/MONDO_0004247
peptic ulcer disease
http://purl.obolibrary.org/obo/MESH_D010437 EquivalentTo 'peptic ulcer disease'
http://purl.obolibrary.org/obo/MONDO_0018889
hyaline body myopathy
http://purl.obolibrary.org/obo/GARD_0007148 EquivalentTo 'hyaline body myopathy'
http://purl.obolibrary.org/obo/MONDO_0018882
vasculitis
'vasculitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_46956008
'vasculitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_31996006
http://purl.obolibrary.org/obo/MONDO_0018881
myelodysplastic syndrome
http://purl.obolibrary.org/obo/GARD_0007132 EquivalentTo 'myelodysplastic syndrome'
http://purl.obolibrary.org/obo/MONDO_0004255
wolffian adnexal tumor
http://purl.obolibrary.org/obo/GARD_0008680 EquivalentTo 'wolffian adnexal tumor'
http://purl.obolibrary.org/obo/MESH_C536741 EquivalentTo 'wolffian adnexal tumor'
http://purl.obolibrary.org/obo/MONDO_0018893
Cobb syndrome
'Cobb syndrome' SubClassOf 'intracranial hemangioma'
'Cobb syndrome' SubClassOf 'rare genetic epilepsy'
'Cobb syndrome' SubClassOf 'nervous system benign neoplasm'
'Cobb syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
'Cobb syndrome' SubClassOf 'genetic nervous system disorder'
http://purl.obolibrary.org/obo/MONDO_0018892
Wyburn-Mason syndrome
'Wyburn-Mason syndrome' SubClassOf 'rare genetic epilepsy'
'Wyburn-Mason syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042983
http://purl.obolibrary.org/obo/GARD_0007900 EquivalentTo 'Wyburn-Mason syndrome'
http://purl.obolibrary.org/obo/MONDO_0004260
peptic ulcer perforation
'peptic ulcer perforation' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001389
http://purl.obolibrary.org/obo/MONDO_0004277
gonorrhea
http://purl.obolibrary.org/obo/GARD_0006499 EquivalentTo 'gonorrhea'
'gonorrhea' EquivalentTo http://www.orpha.net/ORDO/Orphanet_122057
http://purl.obolibrary.org/obo/MONDO_0018906
follicular lymphoma
'follicular lymphoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_308121000
http://purl.obolibrary.org/obo/MONDO_0018907
craniopharyngioma
http://purl.obolibrary.org/obo/GARD_0010486 EquivalentTo 'craniopharyngioma'
http://purl.obolibrary.org/obo/MONDO_0018904
primary membranoproliferative glomerulonephritis
http://purl.obolibrary.org/obo/GARD_0011982 EquivalentTo 'primary membranoproliferative glomerulonephritis'
http://purl.obolibrary.org/obo/MONDO_0018900
Corticosteroid-sensitive aseptic abscess syndrome
http://purl.obolibrary.org/obo/GARD_0010946 EquivalentTo 'Corticosteroid-sensitive aseptic abscess syndrome'
http://purl.obolibrary.org/obo/MONDO_0018919
McCune-Albright syndrome
'McCune-Albright syndrome' SubClassOf 'rare genetic skin disease'
'McCune-Albright syndrome' SubClassOf 'rare genetic bone disease'
'McCune-Albright syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/GARD_0006995 EquivalentTo 'McCune-Albright syndrome'
http://purl.obolibrary.org/obo/MONDO_0018913
malakoplakia
'malakoplakia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001807
http://purl.obolibrary.org/obo/MONDO_0018912
Cushing syndrome
http://purl.obolibrary.org/obo/GARD_0006224 EquivalentTo 'Cushing syndrome'
http://purl.obolibrary.org/obo/MONDO_0018914
hypotrichosis simplex
http://purl.obolibrary.org/obo/GARD_0009170 EquivalentTo 'hypotrichosis simplex'
http://purl.obolibrary.org/obo/MONDO_0018911
maturity-onset diabetes of the young (disease)
http://purl.obolibrary.org/obo/GARD_0003697 EquivalentTo 'maturity-onset diabetes of the young (disease)'
http://purl.obolibrary.org/obo/MONDO_0018910
oculocutaneous albinism
'oculocutaneous albinism' SubClassOf 'rare genetic skin disease'
http://purl.obolibrary.org/obo/MONDO_0000600
nosophobia
'nosophobia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001903
http://purl.obolibrary.org/obo/MONDO_0000608
familial juvenile hyperuricemic nephropathy
'familial juvenile hyperuricemic nephropathy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_46785007
http://purl.obolibrary.org/obo/MESH_C537696 EquivalentTo 'familial juvenile hyperuricemic nephropathy'
http://purl.obolibrary.org/obo/GARD_0000067 EquivalentTo 'familial juvenile hyperuricemic nephropathy'
http://purl.obolibrary.org/obo/MONDO_0000605
hypersensitivity reaction disease
'hypersensitivity reaction disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1002003
http://purl.obolibrary.org/obo/MONDO_0000644
cervical benign neoplasm
'cervical benign neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_92056006
http://purl.obolibrary.org/obo/MONDO_0000643
vulvar benign neoplasm
'vulvar benign neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_92486005
http://purl.obolibrary.org/obo/MONDO_0000646
ovarian benign neoplasm
'ovarian benign neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_92260003
'ovarian benign neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000116
http://purl.obolibrary.org/obo/MONDO_0024619
central nervous system infectious disorder
'central nervous system infectious disorder' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001456
http://purl.obolibrary.org/obo/MONDO_0024608
dientamoebiasis
'dientamoebiasis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_67915005
http://purl.obolibrary.org/obo/MONDO_0024609
vulvar squamous cell carcinoma
'vulvar squamous cell carcinoma' EquivalentTo http://www.orpha.net/ORDO/Orphanet_494448
http://purl.obolibrary.org/obo/MONDO_0024637
malignant soft tissue neoplasm
'malignant soft tissue neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_269469005
http://purl.obolibrary.org/obo/MONDO_0009009
hypoplasminogenemia
http://purl.obolibrary.org/obo/GARD_0004380 EquivalentTo 'hypoplasminogenemia'
http://purl.obolibrary.org/obo/MONDO_0000675
pain agnosia
'pain agnosia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001484
http://purl.obolibrary.org/obo/MONDO_0009008
heart defect-tongue hamartoma-polysyndactyly syndrome
'heart defect-tongue hamartoma-polysyndactyly syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'heart defect-tongue hamartoma-polysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0004166 EquivalentTo 'heart defect-tongue hamartoma-polysyndactyly syndrome'
http://purl.obolibrary.org/obo/GARD_0002612 EquivalentTo 'heart defect-tongue hamartoma-polysyndactyly syndrome'
http://purl.obolibrary.org/obo/MONDO_0000688
inherited organic acidemia
'inherited organic acidemia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_116021002
http://purl.obolibrary.org/obo/MONDO_0009018
central cloudy dystrophy of FranC'ois
'central cloudy dystrophy of FranC'ois' EquivalentTo http://purl.obolibrary.org/obo/SCTID_419074008
http://purl.obolibrary.org/obo/MONDO_0010006
Sandhoff disease
http://purl.obolibrary.org/obo/GARD_0002521 EquivalentTo 'Sandhoff disease'
http://purl.obolibrary.org/obo/GARD_0007604 EquivalentTo 'Sandhoff disease'
http://purl.obolibrary.org/obo/MONDO_0009015
corneal dystrophy-perceptive deafness syndrome
http://purl.obolibrary.org/obo/GARD_0001529 EquivalentTo 'corneal dystrophy-perceptive deafness syndrome'
http://purl.obolibrary.org/obo/MONDO_0009021
Toriello-Carey syndrome
'Toriello-Carey syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0009020
macular corneal dystrophy
http://purl.obolibrary.org/obo/GARD_0006953 EquivalentTo 'macular corneal dystrophy'
http://purl.obolibrary.org/obo/MONDO_0010001
ectodermal dysplasia-blindness syndrome
http://purl.obolibrary.org/obo/GARD_0000293 EquivalentTo 'ectodermal dysplasia-blindness syndrome'
http://purl.obolibrary.org/obo/MONDO_0010002
Rothmund-Thomson syndrome
http://purl.obolibrary.org/obo/GARD_0004392 EquivalentTo 'Rothmund-Thomson syndrome'
http://purl.obolibrary.org/obo/MONDO_0010005
Saccharopinuria
http://purl.obolibrary.org/obo/GARD_0000314 EquivalentTo 'Saccharopinuria'
http://purl.obolibrary.org/obo/MONDO_0024659
colorectal kaposi sarcoma
'colorectal kaposi sarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
http://purl.obolibrary.org/obo/MONDO_0000694
seasonal affective disorder
http://purl.obolibrary.org/obo/GARD_0009434 EquivalentTo 'seasonal affective disorder'
http://purl.obolibrary.org/obo/MONDO_0024644
myocardial ischemia
'myocardial ischemia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001375
http://purl.obolibrary.org/obo/MONDO_0010017
sea-blue histiocyte syndrome
http://purl.obolibrary.org/obo/GARD_0008241 EquivalentTo 'sea-blue histiocyte syndrome'
http://purl.obolibrary.org/obo/MONDO_0009022
corpus callosum, agenesis of
http://purl.obolibrary.org/obo/GARD_0001535 EquivalentTo 'corpus callosum, agenesis of'
http://purl.obolibrary.org/obo/MONDO_0010010
Schinzel-Giedion syndrome
'Schinzel-Giedion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/GARD_0000117 EquivalentTo 'Schinzel-Giedion syndrome'
http://purl.obolibrary.org/obo/MONDO_0009032
cranioectodermal dysplasia
http://purl.obolibrary.org/obo/GARD_0000359 EquivalentTo 'cranioectodermal dysplasia'
http://purl.obolibrary.org/obo/MONDO_0010012
autoimmune polyendocrinopathy type 2
http://purl.obolibrary.org/obo/GARD_0007611 EquivalentTo 'autoimmune polyendocrinopathy type 2'
http://purl.obolibrary.org/obo/MONDO_0010011
schizencephaly
http://purl.obolibrary.org/obo/GARD_0000166 EquivalentTo 'schizencephaly'
http://purl.obolibrary.org/obo/MONDO_0010014
craniometadiaphyseal dysplasia, wormian bone type
'craniometadiaphyseal dysplasia, wormian bone type' EquivalentTo http://purl.obolibrary.org/obo/SCTID_278833002
http://purl.obolibrary.org/obo/MONDO_0024677
pancreatic insulinoma
http://purl.obolibrary.org/obo/GARD_0003010 EquivalentTo 'pancreatic insulinoma'
http://purl.obolibrary.org/obo/MONDO_0010029
situs inversus
http://purl.obolibrary.org/obo/GARD_0004883 EquivalentTo 'situs inversus'
http://purl.obolibrary.org/obo/MONDO_0010028
sialuria
http://purl.obolibrary.org/obo/GARD_0004865 EquivalentTo 'sialuria'
http://purl.obolibrary.org/obo/MONDO_0009036
cardiocranial syndrome, Pfeiffer type
http://purl.obolibrary.org/obo/GARD_0008586 EquivalentTo 'cardiocranial syndrome, Pfeiffer type'
http://purl.obolibrary.org/obo/MONDO_0009035
craniometaphyseal dysplasia, autosomal recessive
'craniometaphyseal dysplasia, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042973
http://purl.obolibrary.org/obo/GARD_0001582 EquivalentTo 'craniometaphyseal dysplasia, autosomal recessive'
'craniometaphyseal dysplasia, autosomal recessive' SubClassOf 'rare genetic developmental defect during embryogenesis'
'craniometaphyseal dysplasia, autosomal recessive' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0010021
seizures, benign familial neonatal, autosomal recessive
http://purl.obolibrary.org/obo/GARD_0001519 EquivalentTo 'seizures, benign familial neonatal, autosomal recessive'
http://purl.obolibrary.org/obo/MONDO_0010023
combined immunodeficiency due to ZAP70 deficiency
http://purl.obolibrary.org/obo/GARD_0000387 EquivalentTo 'combined immunodeficiency due to ZAP70 deficiency'
http://purl.obolibrary.org/obo/MONDO_0009040
craniosynostosis-mental retardation syndrome of 51N and Gettig
http://purl.obolibrary.org/obo/GARD_0010282 EquivalentTo 'craniosynostosis-mental retardation syndrome of 51N and Gettig'
http://purl.obolibrary.org/obo/MONDO_0010024
Beemer-Langer syndrome
http://purl.obolibrary.org/obo/GARD_0004832 EquivalentTo 'Beemer-Langer syndrome'
http://purl.obolibrary.org/obo/MONDO_0010027
Free sialic acid storage disease, infantile form
http://purl.obolibrary.org/obo/GARD_0000175 EquivalentTo 'Free sialic acid storage disease, infantile form'
http://purl.obolibrary.org/obo/MONDO_0010026
short syndrome
'short syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
'short syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/GARD_0007633 EquivalentTo 'short syndrome'
http://purl.obolibrary.org/obo/MONDO_0024664
hypertension, pregnancy-induced
'hypertension, pregnancy-induced' SubClassOf 'pregnancy disease'
'hypertension, pregnancy-induced' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C9243
'hypertension, pregnancy-induced' SubClassOf 'pregnancy disease'
http://purl.obolibrary.org/obo/MONDO_0010039
congenital heart defect-round face-developmental delay syndrome
http://purl.obolibrary.org/obo/GARD_0004905 EquivalentTo 'congenital heart defect-round face-developmental delay syndrome'
http://purl.obolibrary.org/obo/MONDO_0009046
Fraser syndrome
'Fraser syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0009045
cataract-nephropathy-encephalopathy syndrome
http://purl.obolibrary.org/obo/GARD_0001614 EquivalentTo 'cataract-nephropathy-encephalopathy syndrome'
http://purl.obolibrary.org/obo/MONDO_0024660
tubular adenoma
'tubular adenoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_444408007
http://purl.obolibrary.org/obo/MONDO_0009054
autosomal recessive cutis laxa type 2, classic type
http://purl.obolibrary.org/obo/GARD_0001638 EquivalentTo 'autosomal recessive cutis laxa type 2, classic type'
http://purl.obolibrary.org/obo/MONDO_0010032
Sjogren-Larsson-like ichthyosis without Cns or eye involvement
http://purl.obolibrary.org/obo/GARD_0004885 EquivalentTo 'Sjogren-Larsson-like ichthyosis without Cns or eye involvement'
http://purl.obolibrary.org/obo/MONDO_0010031
Sjogren-Larsson syndrome
'Sjogren-Larsson syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0007031
http://purl.obolibrary.org/obo/MONDO_0009052
cutis laxa, autosomal recessive, type 1A
http://purl.obolibrary.org/obo/MESH_C562628 EquivalentTo 'cutis laxa, autosomal recessive, type 1A'
'cutis laxa, autosomal recessive, type 1A' EquivalentTo http://purl.obolibrary.org/obo/SCTID_59451000
http://purl.obolibrary.org/obo/MONDO_0009051
cutaneous photosensitivity-lethal colitis syndrome
http://purl.obolibrary.org/obo/GARD_0001633 EquivalentTo 'cutaneous photosensitivity-lethal colitis syndrome'
http://purl.obolibrary.org/obo/MONDO_0010033
generalized peeling skin syndrome
http://purl.obolibrary.org/obo/GARD_0012862 EquivalentTo 'generalized peeling skin syndrome'
http://purl.obolibrary.org/obo/MONDO_0009050
ACTH-secreting pituitary adenoma
'ACTH-secreting pituitary adenoma' SubClassOf 'rare female infertility due to adrenal disorder of genetic origin'
'ACTH-secreting pituitary adenoma' SubClassOf 'rare genetic bone disease'
'ACTH-secreting pituitary adenoma' SubClassOf 'rare male infertility due to adrenal disorder of genetic origin'
'ACTH-secreting pituitary adenoma' SubClassOf 'inherited gynecological tumor'
'ACTH-secreting pituitary adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0009058
cystathioninuria (disease)
http://purl.obolibrary.org/obo/GARD_0002428 EquivalentTo 'cystathioninuria (disease)'
http://purl.obolibrary.org/obo/MONDO_0009055
cutis marmorata telangiectatica congenita (disease)
http://purl.obolibrary.org/obo/GARD_0006228 EquivalentTo 'cutis marmorata telangiectatica congenita (disease)'
http://purl.obolibrary.org/obo/MONDO_0010043
hereditary spastic paraplegia 17
http://purl.obolibrary.org/obo/GARD_0004219 EquivalentTo 'hereditary spastic paraplegia 17'
http://purl.obolibrary.org/obo/MONDO_0010042
spastic diplegia and mental retardation
http://purl.obolibrary.org/obo/GARD_0004911 EquivalentTo 'spastic diplegia and mental retardation'
http://purl.obolibrary.org/obo/MONDO_0010045
paraplegia-brachydactyly-cone-shaped epiphysis syndrome
http://purl.obolibrary.org/obo/GARD_0002343 EquivalentTo 'paraplegia-brachydactyly-cone-shaped epiphysis syndrome'
http://purl.obolibrary.org/obo/MONDO_0010044
hereditary spastic paraplegia 15
http://purl.obolibrary.org/obo/GARD_0009581 EquivalentTo 'hereditary spastic paraplegia 15'
http://purl.obolibrary.org/obo/MONDO_0009062
cystic fibrosis-gastritis-megaloblastic anemia syndrome
http://purl.obolibrary.org/obo/GARD_0003303 EquivalentTo 'cystic fibrosis-gastritis-megaloblastic anemia syndrome'
http://purl.obolibrary.org/obo/MONDO_0010047
hereditary spastic paraplegia 5A
http://purl.obolibrary.org/obo/GARD_0004926 EquivalentTo 'hereditary spastic paraplegia 5A'
http://purl.obolibrary.org/obo/MONDO_0010046
hereditary spastic paraplegia 23
http://purl.obolibrary.org/obo/GARD_0000336 EquivalentTo 'hereditary spastic paraplegia 23'
http://purl.obolibrary.org/obo/MONDO_0010049
spastic paraplegia-glaucoma-intellectual disability syndrome
http://purl.obolibrary.org/obo/GARD_0004931 EquivalentTo 'spastic paraplegia-glaucoma-intellectual disability syndrome'
http://purl.obolibrary.org/obo/MONDO_0010041
Charlevoix-Saguenay spastic ataxia
http://purl.obolibrary.org/obo/GARD_0004910 EquivalentTo 'Charlevoix-Saguenay spastic ataxia'
http://purl.obolibrary.org/obo/MONDO_0009069
congenital lactic acidosis, Saguenay-Lac-saint-Jean type
http://purl.obolibrary.org/obo/GARD_0008370 EquivalentTo 'congenital lactic acidosis, Saguenay-Lac-saint-Jean type'
http://purl.obolibrary.org/obo/MONDO_0009068
cytochrome-c oxidase deficiency disease
http://purl.obolibrary.org/obo/GARD_0000048 EquivalentTo 'cytochrome-c oxidase deficiency disease'
http://purl.obolibrary.org/obo/MONDO_0009067
cystinuria (disease)
http://purl.obolibrary.org/obo/MESH_D003555 EquivalentTo 'cystinuria (disease)'
http://purl.obolibrary.org/obo/MONDO_0009075
Dandy-Walker malformation-postaxial polydactyly syndrome
http://purl.obolibrary.org/obo/GARD_0001669 EquivalentTo 'Dandy-Walker malformation-postaxial polydactyly syndrome'
http://purl.obolibrary.org/obo/MONDO_0010056
adult spinal muscular atrophy
http://purl.obolibrary.org/obo/GARD_0000564 EquivalentTo 'adult spinal muscular atrophy'
http://purl.obolibrary.org/obo/MONDO_0009072
Dandy-Walker syndrome
http://purl.obolibrary.org/obo/GARD_0006242 EquivalentTo 'Dandy-Walker syndrome'
http://purl.obolibrary.org/obo/MONDO_0009071
hereditary renal hypouricemia
http://purl.obolibrary.org/obo/GARD_0009496 EquivalentTo 'hereditary renal hypouricemia'
http://purl.obolibrary.org/obo/MONDO_0009070
d-glyceric aciduria
http://purl.obolibrary.org/obo/GARD_0000234 EquivalentTo 'd-glyceric aciduria'
'd-glyceric aciduria' EquivalentTo http://purl.obolibrary.org/obo/SCTID_237980004
http://purl.obolibrary.org/obo/MONDO_0010059
spinal muscular atrophy, type I, with congenital bone fractures
http://purl.obolibrary.org/obo/GARD_0004947 EquivalentTo 'spinal muscular atrophy, type I, with congenital bone fractures'
http://purl.obolibrary.org/obo/MESH_C564805 EquivalentTo 'spinal muscular atrophy, type I, with congenital bone fractures'
http://purl.obolibrary.org/obo/MONDO_0010052
spermatogenic failure 4
http://purl.obolibrary.org/obo/GARD_0008530 EquivalentTo 'spermatogenic failure 4'
http://purl.obolibrary.org/obo/MONDO_0010051
spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
http://purl.obolibrary.org/obo/GARD_0004932 EquivalentTo 'spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome'
http://purl.obolibrary.org/obo/MONDO_0010064
spastic ataxia-corneal dystrophy syndrome
http://purl.obolibrary.org/obo/GARD_0003795 EquivalentTo 'spastic ataxia-corneal dystrophy syndrome'
http://purl.obolibrary.org/obo/MONDO_0009086
deafness-small bowel diverticulosis-neuropathy syndrome
http://purl.obolibrary.org/obo/GARD_0002568 EquivalentTo 'deafness-small bowel diverticulosis-neuropathy syndrome'
http://purl.obolibrary.org/obo/MONDO_0010067
Splenoportal vascular anomalies
'Splenoportal vascular anomalies' EquivalentTo http://purl.obolibrary.org/obo/SCTID_234131004
http://purl.obolibrary.org/obo/MONDO_0009084
conductive deafness-ptosis-skeletal anomalies syndrome
http://purl.obolibrary.org/obo/GARD_0000305 EquivalentTo 'conductive deafness-ptosis-skeletal anomalies syndrome'
http://purl.obolibrary.org/obo/MONDO_0009083
conductive deafness-malformed external ear syndrome
http://purl.obolibrary.org/obo/MESH_C565644 EquivalentTo 'conductive deafness-malformed external ear syndrome'
http://purl.obolibrary.org/obo/GARD_0001460 EquivalentTo 'conductive deafness-malformed external ear syndrome'
http://purl.obolibrary.org/obo/MONDO_0009082
high myopia-sensorineural deafness syndrome
http://purl.obolibrary.org/obo/GARD_0012844 EquivalentTo 'high myopia-sensorineural deafness syndrome'
http://purl.obolibrary.org/obo/MONDO_0009081
deafness, congenital, with total albinism
'deafness, congenital, with total albinism' SubClassOf 'inherited genetic disease'
'deafness, congenital, with total albinism' SubClassOf 'genetic skin disease'
'deafness, congenital, with total albinism' SubClassOf 'hypopigmentation of the skin (disease)'
http://purl.obolibrary.org/obo/MONDO_0009080
split hand-foot malformation 1 with sensorineural hearing loss
http://purl.obolibrary.org/obo/MESH_C565647 EquivalentTo 'split hand-foot malformation 1 with sensorineural hearing loss'
'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability'
http://purl.obolibrary.org/obo/MONDO_0010061
autosomal recessive cerebellar ataxia-blindness-deafness syndrome
http://purl.obolibrary.org/obo/GARD_0009971 EquivalentTo 'autosomal recessive cerebellar ataxia-blindness-deafness syndrome'
http://purl.obolibrary.org/obo/MONDO_0010060
infantile onset spinocerebellar ataxia
http://purl.obolibrary.org/obo/GARD_0004062 EquivalentTo 'infantile onset spinocerebellar ataxia'
http://purl.obolibrary.org/obo/MONDO_0010063
corneal-cerebellar syndrome
http://purl.obolibrary.org/obo/GARD_0001525 EquivalentTo 'corneal-cerebellar syndrome'
http://purl.obolibrary.org/obo/MONDO_0010062
spinocerebellar ataxia-dysmorphism syndrome
http://purl.obolibrary.org/obo/GARD_0004958 EquivalentTo 'spinocerebellar ataxia-dysmorphism syndrome'
http://purl.obolibrary.org/obo/MONDO_0010078
spondyloperipheral dysplasia-short ulna syndrome
'spondyloperipheral dysplasia-short ulna syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/GARD_0004994 EquivalentTo 'spondyloperipheral dysplasia-short ulna syndrome'
http://purl.obolibrary.org/obo/MONDO_0009096
hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
http://purl.obolibrary.org/obo/GARD_0010981 EquivalentTo 'hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia'
http://purl.obolibrary.org/obo/MONDO_0010077
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
http://purl.obolibrary.org/obo/GARD_0010616 EquivalentTo 'spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome'
http://purl.obolibrary.org/obo/MONDO_0009094
Dermochondrocorneal dystrophy
http://purl.obolibrary.org/obo/GARD_0001815 EquivalentTo 'Dermochondrocorneal dystrophy'
http://purl.obolibrary.org/obo/MONDO_0009092
Nasu-Hakola disease
'Nasu-Hakola disease' SubClassOf 'rare genetic developmental defect during embryogenesis'
'Nasu-Hakola disease' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/GARD_0009921 EquivalentTo 'Nasu-Hakola disease'
http://purl.obolibrary.org/obo/MONDO_0010071
Spondyloenchondrodysplasia
'Spondyloenchondrodysplasia' SubClassOf 'rare genetic developmental defect during embryogenesis'
'Spondyloenchondrodysplasia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0002326
'Spondyloenchondrodysplasia' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0010073
spondyloepiphyseal dysplasia tarda, Kohn type
'spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0024492
tumor grade 2, general grading system
'tumor grade 2, general grading system' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0005746
http://purl.obolibrary.org/obo/OMIMPS_182250
'obsolete Singleton-Merten syndrome' EquivalentTo http://purl.obolibrary.org/obo/OMIMPS_182250
'Singleton-Merten dysplasia' EquivalentTo http://purl.obolibrary.org/obo/OMIMPS_182250
http://purl.obolibrary.org/obo/MONDO_0000500
tongue squamous cell carcinoma
'tongue squamous cell carcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000055
http://purl.obolibrary.org/obo/MONDO_0000507
inclusion body myopathy with Paget disease of bone and frontotemporal dementia
'inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'inherited neurodegenerative disorder'
'inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/GARD_0010899 EquivalentTo 'inclusion body myopathy with Paget disease of bone and frontotemporal dementia'
http://purl.obolibrary.org/obo/MONDO_0024519
renal hypodysplasia/aplasia 1
http://purl.obolibrary.org/obo/GARD_0004791 EquivalentTo 'renal hypodysplasia/aplasia 1'
http://purl.obolibrary.org/obo/MONDO_0000552
breast lobular carcinoma
'breast lobular carcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008509
http://purl.obolibrary.org/obo/MONDO_0024507
aniridia 1
'aniridia 1' EquivalentTo http://purl.obolibrary.org/obo/SCTID_253231007
http://purl.obolibrary.org/obo/MONDO_0000557
hereditary ataxia
http://purl.obolibrary.org/obo/MESH_C531684 EquivalentTo 'hereditary ataxia'
http://purl.obolibrary.org/obo/MONDO_0000561
spinocerebellar ataxia type 16
'spinocerebellar ataxia type 16' EquivalentTo http://www.orpha.net/ORDO/Orphanet_98770
http://purl.obolibrary.org/obo/MONDO_0024535
Singleton-Merten syndrome 1
'Singleton-Merten syndrome 1' SubClassOf 'obsolete Singleton-Merten syndrome'
http://purl.obolibrary.org/obo/MONDO_0024524
DUH1
'DUH1' SubClassOf 'dyschromatosis universalis'
http://purl.obolibrary.org/obo/MESH_C567273 EquivalentTo 'DUH1'
'DUH1' SubClassOf 'dyschromatosis universalis hereditaria'
http://purl.obolibrary.org/obo/MONDO_0024529
MVP1
http://purl.obolibrary.org/obo/GARD_0003688 EquivalentTo 'MVP1'
http://purl.obolibrary.org/obo/MONDO_0024543
brittle cornea syndrome 1
'brittle cornea syndrome 1' EquivalentTo http://purl.obolibrary.org/obo/SCTID_31798004
http://purl.obolibrary.org/obo/MONDO_0000597
Munchausen by proxy
http://purl.obolibrary.org/obo/MESH_D016735 EquivalentTo 'Munchausen by proxy'
'Munchausen by proxy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_95637005
http://purl.obolibrary.org/obo/MONDO_0024568
infantile liver failure syndrome 1
http://purl.obolibrary.org/obo/GARD_0013114 EquivalentTo 'infantile liver failure syndrome 1'
http://purl.obolibrary.org/obo/MONDO_0024581
hypertension-associated pregnancy disorder
'hypertension-associated pregnancy disorder' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C9243
'hypertension-associated pregnancy disorder' SubClassOf 'pregnancy disease'
http://purl.obolibrary.org/obo/MONDO_0024361
circadian rhythm sleep disorder
'circadian rhythm sleep disorder' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C95071
http://purl.obolibrary.org/obo/MONDO_0000402
small cell carcinoma
'small cell carcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008524
http://purl.obolibrary.org/obo/MONDO_0000424
inborn vitamin B12 deficiency (disease)
'inborn vitamin B12 deficiency (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0000734
http://purl.obolibrary.org/obo/MONDO_0000448
paraganglioma
'paraganglioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000453
http://purl.obolibrary.org/obo/MONDO_0000452
progressive relapsing multiple sclerosis
'progressive relapsing multiple sclerosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_230374002
http://purl.obolibrary.org/obo/MONDO_0000451
primary progressive multiple sclerosis
'primary progressive multiple sclerosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008520
http://purl.obolibrary.org/obo/MONDO_0000450
secondary progressive multiple sclerosis
'secondary progressive multiple sclerosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008522
http://purl.obolibrary.org/obo/MONDO_0000463
urofacial syndrome
http://purl.obolibrary.org/obo/GARD_0000104 EquivalentTo 'urofacial syndrome'
http://purl.obolibrary.org/obo/MONDO_0000461
nutritional biotin deficiency
'nutritional biotin deficiency' SubClassOf 'nutritional deficiency disease'
'nutritional biotin deficiency' EquivalentTo http://purl.obolibrary.org/obo/SCTID_49607006
'nutritional biotin deficiency' SubClassOf 'vitamin deficiency disorder'
http://purl.obolibrary.org/obo/MONDO_0000473
artery disease
'artery disease' SubClassOf 'vascular disease'
'artery disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35317
'artery disease' SubClassOf 'vascular disease'
http://purl.obolibrary.org/obo/MONDO_0024422
auditory perceptual disorders
'auditory perceptual disorders' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84575
'auditory perceptual disorders' EquivalentTo http://purl.obolibrary.org/obo/SCTID_229752008
http://purl.obolibrary.org/obo/MONDO_0024429
alice in wonderland syndrome
'alice in wonderland syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C116362
http://purl.obolibrary.org/obo/MONDO_0000485
spasmodic dystonia
http://purl.obolibrary.org/obo/GARD_0007668 EquivalentTo 'spasmodic dystonia'
http://purl.obolibrary.org/obo/MONDO_0024454
sacral nerve plexus disease
http://purl.obolibrary.org/obo/GARD_0007597 EquivalentTo 'sacral nerve plexus disease'
http://purl.obolibrary.org/obo/MONDO_0024456
anterior segment dysgenesis 3
http://purl.obolibrary.org/obo/GARD_0002978 EquivalentTo 'anterior segment dysgenesis 3'
http://purl.obolibrary.org/obo/MONDO_0024459
Aeromonas hydrophila intestinal disease
'Aeromonas hydrophila intestinal disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
http://purl.obolibrary.org/obo/MONDO_0000481
cervical dystonia
'cervical dystonia' EquivalentTo http://www.orpha.net/ORDO/Orphanet_93962
http://purl.obolibrary.org/obo/MONDO_0000497
pyometritis
http://purl.obolibrary.org/obo/MESH_D055112 EquivalentTo 'pyometritis'
http://purl.obolibrary.org/obo/MONDO_0000494
renal fibrosis
'renal fibrosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001517
http://purl.obolibrary.org/obo/MONDO_0000492
chronic venous insufficiency
'chronic venous insufficiency' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0007940
http://purl.obolibrary.org/obo/MONDO_0024470
benign chondrogenic neoplasm
'benign chondrogenic neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_722690001
http://purl.obolibrary.org/obo/MONDO_0024464
pituitary hormone deficiency, combined, 1
http://purl.obolibrary.org/obo/MESH_C567803 EquivalentTo 'pituitary hormone deficiency, combined, 1'
http://purl.obolibrary.org/obo/GARD_0010601 EquivalentTo 'pituitary hormone deficiency, combined, 1'
http://purl.obolibrary.org/obo/MONDO_0024461
angiomatosis
'angiomatosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_205562004
http://purl.obolibrary.org/obo/MESH_D012128
http://purl.obolibrary.org/obo/MESH_D012128 EquivalentTo 'adult respiratory distress syndrome'
http://purl.obolibrary.org/obo/MESH_D012128 EquivalentTo 'acute respiratory distress syndrome'
http://purl.obolibrary.org/obo/MONDO_0000288
polycystic echinococcosis
'polycystic echinococcosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
http://purl.obolibrary.org/obo/MONDO_0024249
pityriasis lichenoides
'pityriasis lichenoides' SubClassOf 'skin vascular disease'
'pityriasis lichenoides' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C85013
http://purl.obolibrary.org/obo/GARD_0010265 EquivalentTo 'pityriasis lichenoides'
'pityriasis lichenoides' EquivalentTo http://purl.obolibrary.org/obo/SCTID_200983001
http://purl.obolibrary.org/obo/MONDO_0000294
mesocestoidiasis
'mesocestoidiasis' SubClassOf 'helminthiasis'
'mesocestoidiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042488
http://purl.obolibrary.org/obo/MONDO_0024277
neonatal thrombocytopenia
http://purl.obolibrary.org/obo/MESH_D054098 EquivalentTo 'neonatal thrombocytopenia'
http://purl.obolibrary.org/obo/MONDO_0024279
chronic endometritis
'chronic endometritis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_63922003
http://purl.obolibrary.org/obo/MONDO_0024271
intestinal helminthiasis
'intestinal helminthiasis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_26249004
http://purl.obolibrary.org/obo/MONDO_0024270
parasitic intestinal disease
'parasitic intestinal disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
http://purl.obolibrary.org/obo/MONDO_0024275
dysentery, amebic
http://purl.obolibrary.org/obo/GARD_0000652 EquivalentTo 'dysentery, amebic'
'dysentery, amebic' EquivalentTo 'dysentery' and 'amebiasis'
'dysentery, amebic' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34558
http://purl.obolibrary.org/obo/MONDO_0024263
neonatal aspiration syndrome
'neonatal aspiration syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C118312
http://purl.obolibrary.org/obo/MONDO_0024298
vitamin deficiency disorder
'vitamin deficiency disorder' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0005878
http://purl.obolibrary.org/obo/MONDO_0024291
vascular malformation
http://purl.obolibrary.org/obo/MESH_D054079 EquivalentTo 'vascular malformation'
http://purl.obolibrary.org/obo/MONDO_0024290
enuresis
http://purl.obolibrary.org/obo/MESH_D004775 EquivalentTo 'enuresis'
http://purl.obolibrary.org/obo/MONDO_0024280
polyarticular arthritis
'polyarticular arthritis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_416956002
http://purl.obolibrary.org/obo/MONDO_0014944
short stature-brachydactyly-obesity-global developmental delay syndrome
'short stature-brachydactyly-obesity-global developmental delay syndrome' SubClassOf 'inborn errors of metabolism'
http://purl.obolibrary.org/obo/MONDO_0000309
aniseikonia
'aniseikonia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001266
http://purl.obolibrary.org/obo/MONDO_0000313
hypophosphatemia (disease)
'hypophosphatemia (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C37977
http://purl.obolibrary.org/obo/MONDO_0014965
lethal congenital contracture syndrome 11; LCCS11
http://purl.obolibrary.org/obo/GARD_0013220 EquivalentTo 'lethal congenital contracture syndrome 11; LCCS11'
http://purl.obolibrary.org/obo/MONDO_0000327
Buruli ulcer disease
'Buruli ulcer disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_15845006
'Buruli ulcer disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001281
http://purl.obolibrary.org/obo/MONDO_0000337
exanthema subitum
'exanthema subitum' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001320
http://purl.obolibrary.org/obo/MONDO_0024313
staphylococcal infection
'staphylococcal infection' EquivalentTo http://purl.obolibrary.org/obo/SCTID_56038003
http://purl.obolibrary.org/obo/MESH_D013203 EquivalentTo 'staphylococcal infection'
http://purl.obolibrary.org/obo/MONDO_0024318
viral infection of central nervous system
http://purl.obolibrary.org/obo/MESH_D020805 EquivalentTo 'viral infection of central nervous system'
http://purl.obolibrary.org/obo/MONDO_0024302
internal hirudiniasis
'internal hirudiniasis' SubClassOf 'disease affecting anatomical system'
'internal hirudiniasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
http://purl.obolibrary.org/obo/MONDO_0000355
Ullrich congenital muscular dystrophy
http://purl.obolibrary.org/obo/GARD_0004769 EquivalentTo 'Ullrich congenital muscular dystrophy'
http://purl.obolibrary.org/obo/MONDO_0024304
ichthyosis vulgaris
http://purl.obolibrary.org/obo/GARD_0006752 EquivalentTo 'ichthyosis vulgaris'
http://purl.obolibrary.org/obo/MONDO_0014996
intellectual disability, autosomal recessive 58; MRT58
http://purl.obolibrary.org/obo/GARD_0013361 EquivalentTo 'intellectual disability, autosomal recessive 58; MRT58'
http://purl.obolibrary.org/obo/MONDO_0024336
vulvar adenocarcinoma
'vulvar adenocarcinoma' EquivalentTo http://www.orpha.net/ORDO/Orphanet_494454
http://purl.obolibrary.org/obo/MONDO_0000367
taeniasis
'taeniasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042488
'taeniasis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001433
http://purl.obolibrary.org/obo/MONDO_0024354
cytomegalovirus pneumonia
'cytomegalovirus pneumonia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_7678002
http://purl.obolibrary.org/obo/MONDO_0000179
Neu-Laxova syndrome
'Neu-Laxova syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C14089
'Neu-Laxova syndrome' SubClassOf 'autosomal ichthyosis syndrome with fatal disease course'
http://purl.obolibrary.org/obo/GARD_0000102 EquivalentTo 'Neu-Laxova syndrome'
http://purl.obolibrary.org/obo/MONDO_0000197
obsolete Singleton-Merten syndrome
'obsolete Singleton-Merten syndrome' EquivalentTo http://purl.obolibrary.org/obo/OMIMPS_182250
http://purl.obolibrary.org/obo/DC_0000703 EquivalentTo 'obsolete Singleton-Merten syndrome'
http://purl.obolibrary.org/obo/MONDO_0014816
split-foot malformation-mesoaxial polydactyly syndrome
'split-foot malformation-mesoaxial polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0000200
Zimmermann-Laband syndrome
http://purl.obolibrary.org/obo/GARD_0000385 EquivalentTo 'Zimmermann-Laband syndrome'
http://purl.obolibrary.org/obo/MONDO_0014848
TELO2-related intellectual disability-neurodevelopmental disorder
'TELO2-related intellectual disability-neurodevelopmental disorder' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
'TELO2-related intellectual disability-neurodevelopmental disorder' SubClassOf 'inherited genetic disease'
'TELO2-related intellectual disability-neurodevelopmental disorder' SubClassOf 'rare genetic syndromic intellectual disability'
'TELO2-related intellectual disability-neurodevelopmental disorder' SubClassOf 'syndrome with brachydactyly'
'TELO2-related intellectual disability-neurodevelopmental disorder' SubClassOf 'syndromic corneal dystrophy'
'TELO2-related intellectual disability-neurodevelopmental disorder' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
'TELO2-related intellectual disability-neurodevelopmental disorder' SubClassOf 'patellar dysostosis'
'TELO2-related intellectual disability-neurodevelopmental disorder' SubClassOf 'syndromic urogenital tract malformation'
'TELO2-related intellectual disability-neurodevelopmental disorder' SubClassOf 'onycho-patellar syndrome with eye involvement'
'TELO2-related intellectual disability-neurodevelopmental disorder' SubClassOf 'chromosomal anomaly with epilepsy as a major feature'
'TELO2-related intellectual disability-neurodevelopmental disorder' SubClassOf 'malformation syndrome with short stature'
'TELO2-related intellectual disability-neurodevelopmental disorder' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome'
'TELO2-related intellectual disability-neurodevelopmental disorder' SubClassOf 'syndromic retinitis pigmentosa'
'TELO2-related intellectual disability-neurodevelopmental disorder' SubClassOf 'rare genetic syndromic intellectual disability'
'TELO2-related intellectual disability-neurodevelopmental disorder' SubClassOf 'syndrome with a cerebellar malformation as major feature'
'TELO2-related intellectual disability-neurodevelopmental disorder' SubClassOf 'hereditary retinal dystrophy'
'TELO2-related intellectual disability-neurodevelopmental disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
'TELO2-related intellectual disability-neurodevelopmental disorder' SubClassOf 'syndromic nail anomaly'
'TELO2-related intellectual disability-neurodevelopmental disorder' SubClassOf 'partial monosomy of the long arm of chromosome 9'
'TELO2-related intellectual disability-neurodevelopmental disorder' SubClassOf 'syndromic genetic deafness'
http://purl.obolibrary.org/obo/MONDO_0014858
intellectual disability, autosomal dominant 43
http://purl.obolibrary.org/obo/GARD_0013179 EquivalentTo 'intellectual disability, autosomal dominant 43'
http://purl.obolibrary.org/obo/MONDO_0014867
spinocerebellar ataxia 43; SCA43
'spinocerebellar ataxia 43; SCA43' EquivalentTo http://www.orpha.net/ORDO/Orphanet_497764
http://purl.obolibrary.org/obo/MONDO_0000229
Indian tick typhus
'Indian tick typhus' EquivalentTo http://www.orpha.net/ORDO/Orphanet_101335
http://purl.obolibrary.org/obo/MONDO_0014873
nevus comedonicus syndrome
http://purl.obolibrary.org/obo/GARD_0013073 EquivalentTo 'nevus comedonicus syndrome'
http://purl.obolibrary.org/obo/MONDO_0014888
Mirage syndrome; MIRAGE
http://purl.obolibrary.org/obo/GARD_0013108 EquivalentTo 'Mirage syndrome; MIRAGE'
'Mirage syndrome; MIRAGE' EquivalentTo http://www.orpha.net/ORDO/Orphanet_494433
http://purl.obolibrary.org/obo/MONDO_0014886
severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
'severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome' SubClassOf 'rare genetic skin disease'
http://purl.obolibrary.org/obo/MONDO_0000266
pulmonary aspergilloma
http://purl.obolibrary.org/obo/MESH_D055732 EquivalentTo 'pulmonary aspergilloma'
http://purl.obolibrary.org/obo/MONDO_0024237
inherited neurodegenerative disorder
http://purl.obolibrary.org/obo/MESH_D020271 EquivalentTo 'inherited neurodegenerative disorder'
http://purl.obolibrary.org/obo/MONDO_0024239
congenital anomaly of cardiovascular system
'congenital anomaly of cardiovascular system' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35729
http://purl.obolibrary.org/obo/MONDO_0014694
spondylocostal dysostosis 6, autosomal recessive
http://purl.obolibrary.org/obo/GARD_0012807 EquivalentTo 'spondylocostal dysostosis 6, autosomal recessive'
http://purl.obolibrary.org/obo/MONDO_0000078
acrocephalopolysyndactyly
'acrocephalopolysyndactyly' SubClassOf 'non-syndromic syndactyly'
'acrocephalopolysyndactyly' SubClassOf 'acrocephalosyndactyly'
http://purl.obolibrary.org/obo/MONDO_0000088
precocious puberty
'precocious puberty' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C79704
http://purl.obolibrary.org/obo/MONDO_0000087
polymicrogyria
'polymicrogyria' EquivalentTo http://purl.obolibrary.org/obo/SCTID_4945003
http://purl.obolibrary.org/obo/MONDO_0000082
pelvic organ prolapse
'pelvic organ prolapse' EquivalentTo http://purl.obolibrary.org/obo/SCTID_237113009
http://www.orpha.net/ORDO/Orphanet_261811
'partial deletion of chromosome X' EquivalentTo http://www.orpha.net/ORDO/Orphanet_261811
'obsolete partial deletion of chromosome 10' EquivalentTo http://www.orpha.net/ORDO/Orphanet_261811
http://purl.obolibrary.org/obo/GARD_0005665
http://purl.obolibrary.org/obo/GARD_0005665 EquivalentTo '3 methylcrotonyl-coa carboxylase 1 deficiency'
http://purl.obolibrary.org/obo/GARD_0005665 EquivalentTo '3-Methylcrotonyl-Coa carboxylase 1 deficiency'
http://purl.obolibrary.org/obo/MESH_D065646
http://purl.obolibrary.org/obo/MESH_D065646 EquivalentTo 'anaplastic thyroid carcinoma (disease)'
http://purl.obolibrary.org/obo/MESH_D065646 EquivalentTo 'thyroid gland undifferentiated (anaplastic) carcinoma'
http://purl.obolibrary.org/obo/MONDO_0014726
Charcot-Marie-tooth disease axonal type 2X
'Charcot-Marie-tooth disease axonal type 2X' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001983
http://purl.obolibrary.org/obo/MONDO_0014720
autosomal dominant optic atrophy plus syndrome
http://purl.obolibrary.org/obo/GARD_0005243 EquivalentTo 'autosomal dominant optic atrophy plus syndrome'
http://purl.obolibrary.org/obo/MONDO_0014722
Roifman syndrome
'Roifman syndrome' SubClassOf 'rare genetic bone disease'
'Roifman syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0014731
seizures-scoliosis-macrocephaly syndrome
'seizures-scoliosis-macrocephaly syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C9152
http://purl.obolibrary.org/obo/MONDO_0000107
auriculocondylar syndrome
http://purl.obolibrary.org/obo/GARD_0009798 EquivalentTo 'auriculocondylar syndrome'
http://purl.obolibrary.org/obo/MONDO_0000110
bifid nose
http://purl.obolibrary.org/obo/GARD_0000884 EquivalentTo 'bifid nose'
http://purl.obolibrary.org/obo/MONDO_0000127
geleophysic dysplasia
http://purl.obolibrary.org/obo/GARD_0002449 EquivalentTo 'geleophysic dysplasia'
http://purl.obolibrary.org/obo/MONDO_0000133
immunodeficiency-centromeric instability-facial anomalies syndrome
http://purl.obolibrary.org/obo/GARD_0002945 EquivalentTo 'immunodeficiency-centromeric instability-facial anomalies syndrome'
http://purl.obolibrary.org/obo/MONDO_0000137
leukoencephalopathy, megalencephalic
'leukoencephalopathy, megalencephalic' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/HP_0002352
http://purl.obolibrary.org/obo/MONDO_0000136
keratosis follicularis spinulosa decalvans
http://purl.obolibrary.org/obo/GARD_0006829 EquivalentTo 'keratosis follicularis spinulosa decalvans'
http://purl.obolibrary.org/obo/MONDO_0014773
cardiac anomalies-developmental delay-facial dysmorphism syndrome
http://purl.obolibrary.org/obo/GARD_0012999 EquivalentTo 'cardiac anomalies-developmental delay-facial dysmorphism syndrome'
http://purl.obolibrary.org/obo/MONDO_0000141
mosaic variegated aneuploidy syndrome
http://purl.obolibrary.org/obo/GARD_0003007 EquivalentTo 'mosaic variegated aneuploidy syndrome'
http://purl.obolibrary.org/obo/MONDO_0000159
bone marrow failure syndrome
http://purl.obolibrary.org/obo/MESH_C536572 EquivalentTo 'bone marrow failure syndrome'
http://purl.obolibrary.org/obo/MONDO_0014563
mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
http://purl.obolibrary.org/obo/GARD_0013019 EquivalentTo 'mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency'
http://purl.obolibrary.org/obo/MONDO_0014609
cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
http://purl.obolibrary.org/obo/GARD_0012845 EquivalentTo 'cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome'
http://purl.obolibrary.org/obo/MONDO_0014610
lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
'lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043009
http://purl.obolibrary.org/obo/MONDO_0000004
adrenocortical insufficiency
http://purl.obolibrary.org/obo/GARD_0006722 EquivalentTo 'adrenocortical insufficiency'
http://purl.obolibrary.org/obo/MESH_D000309 EquivalentTo 'adrenocortical insufficiency'
http://purl.obolibrary.org/obo/MONDO_0014645
BENTA disease
http://purl.obolibrary.org/obo/GARD_0013339 EquivalentTo 'BENTA disease'
http://purl.obolibrary.org/obo/MONDO_0014659
fever-associated acute infantile liver failure syndrome
http://purl.obolibrary.org/obo/GARD_0013113 EquivalentTo 'fever-associated acute infantile liver failure syndrome'
http://purl.obolibrary.org/obo/MONDO_0014658
severe achondroplasia-developmental delay-acanthosis nigricans syndrome
'severe achondroplasia-developmental delay-acanthosis nigricans syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0014449
congenital analbuminemia
'congenital analbuminemia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C124851
http://purl.obolibrary.org/obo/MONDO_0014448
hyperthyroxinemia, familial Dysalbuminemic
'hyperthyroxinemia, familial Dysalbuminemic' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C131813
http://purl.obolibrary.org/obo/MONDO_0014455
cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0014464
progressive encephalopathy with leukodystrophy due to DECR deficiency
http://purl.obolibrary.org/obo/GARD_0010327 EquivalentTo 'progressive encephalopathy with leukodystrophy due to DECR deficiency'
http://purl.obolibrary.org/obo/MONDO_0014475
spinocerebellar ataxia type 40
http://purl.obolibrary.org/obo/GARD_0012371 EquivalentTo 'spinocerebellar ataxia type 40'
http://purl.obolibrary.org/obo/MONDO_0014486
intellectual disability, autosomal dominant 30
http://purl.obolibrary.org/obo/GARD_0013136 EquivalentTo 'intellectual disability, autosomal dominant 30'
http://purl.obolibrary.org/obo/MONDO_0014482
intellectual disability, autosomal dominant 29
http://purl.obolibrary.org/obo/GARD_0013379 EquivalentTo 'intellectual disability, autosomal dominant 29'
http://purl.obolibrary.org/obo/MONDO_0014496
mitochondrial complex III deficiency nuclear type 9
'mitochondrial complex III deficiency nuclear type 9' SubClassOf 'mitochondrial complex deficiency'
http://purl.obolibrary.org/obo/MONDO_0014528
chronic atrial and intestinal dysrhythmia
http://purl.obolibrary.org/obo/GARD_0012281 EquivalentTo 'chronic atrial and intestinal dysrhythmia'
http://linkedlifedata.com/resource/umls/id/C1306229
http://linkedlifedata.com/resource/umls/id/C1306229 EquivalentTo 'dyschromatosis universalis'
http://linkedlifedata.com/resource/umls/id/C1306229 EquivalentTo 'dyschromatosis universalis hereditaria'
http://purl.obolibrary.org/obo/MONDO_0014556
congenital contractures of the limbs and face, hypotonia, and developmental delay
'congenital contractures of the limbs and face, hypotonia, and developmental delay' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001868
http://purl.obolibrary.org/obo/MONDO_0009806
Bruck syndrome 1
http://purl.obolibrary.org/obo/GARD_0001029 EquivalentTo 'Bruck syndrome 1'
http://purl.obolibrary.org/obo/MONDO_0009805
osteogenesis imperfecta type 9
http://purl.obolibrary.org/obo/GARD_0010619 EquivalentTo 'osteogenesis imperfecta type 9'
http://purl.obolibrary.org/obo/MONDO_0009804
osteogenesis imperfecta type 3
http://purl.obolibrary.org/obo/GARD_0008695 EquivalentTo 'osteogenesis imperfecta type 3'
'osteogenesis imperfecta type 3' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0009818
autosomal recessive osteopetrosis 3
'autosomal recessive osteopetrosis 3' SubClassOf 'rare genetic bone disease'
'autosomal recessive osteopetrosis 3' SubClassOf 'rare genetic developmental defect during embryogenesis'
'autosomal recessive osteopetrosis 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042973
'autosomal recessive osteopetrosis 3' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C118438
http://purl.obolibrary.org/obo/MONDO_0009814
osteopenia-intellectual disability-sparse hair syndrome
'osteopenia-intellectual disability-sparse hair syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/GARD_0000354 EquivalentTo 'osteopenia-intellectual disability-sparse hair syndrome'
http://purl.obolibrary.org/obo/MONDO_0009813
chronic recurrent multifocal osteomyelitis (disease)
http://purl.obolibrary.org/obo/GARD_0006108 EquivalentTo 'chronic recurrent multifocal osteomyelitis (disease)'
http://purl.obolibrary.org/obo/MONDO_0009810
autosomal recessive distal osteolysis syndrome
http://purl.obolibrary.org/obo/GARD_0004299 EquivalentTo 'autosomal recessive distal osteolysis syndrome'
http://purl.obolibrary.org/obo/GARD_0004144 EquivalentTo 'autosomal recessive distal osteolysis syndrome'
http://purl.obolibrary.org/obo/MONDO_0010801
Spondylocamptodactyly syndrome
http://purl.obolibrary.org/obo/GARD_0004972 EquivalentTo 'Spondylocamptodactyly syndrome'
http://purl.obolibrary.org/obo/MONDO_0010802
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
http://purl.obolibrary.org/obo/MESH_C564011 EquivalentTo 'pancreatic hypoplasia-diabetes-congenital heart disease syndrome'
http://purl.obolibrary.org/obo/GARD_0000347 EquivalentTo 'pancreatic hypoplasia-diabetes-congenital heart disease syndrome'
http://purl.obolibrary.org/obo/MONDO_0010805
bladder exstrophy (disease)
http://purl.obolibrary.org/obo/GARD_0006398 EquivalentTo 'bladder exstrophy (disease)'
http://purl.obolibrary.org/obo/MONDO_0009825
5-oxoprolinase deficiency (disease)
http://purl.obolibrary.org/obo/GARD_0005681 EquivalentTo '5-oxoprolinase deficiency (disease)'
http://purl.obolibrary.org/obo/MONDO_0009822
Otoonychoperoneal syndrome
'Otoonychoperoneal syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0009821
lethal osteosclerotic bone dysplasia
http://purl.obolibrary.org/obo/GARD_0000282 EquivalentTo 'lethal osteosclerotic bone dysplasia'
http://purl.obolibrary.org/obo/MONDO_0009820
osteoporosis-pseudoglioma syndrome
'osteoporosis-pseudoglioma syndrome' SubClassOf 'rare genetic bone disease'
'osteoporosis-pseudoglioma syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0010813
pancreatic beta cell agenesis with neonatal diabetes mellitus
'pancreatic beta cell agenesis with neonatal diabetes mellitus' EquivalentTo http://www.orpha.net/ORDO/Orphanet_28455
http://purl.obolibrary.org/obo/MONDO_0010829
CARASIL
http://purl.obolibrary.org/obo/GARD_0010424 EquivalentTo 'CARASIL'
http://purl.obolibrary.org/obo/MONDO_0009839
progressive supranuclear palsy-parkinsonism syndrome
http://purl.obolibrary.org/obo/GARD_0004507 EquivalentTo 'progressive supranuclear palsy-parkinsonism syndrome'
http://purl.obolibrary.org/obo/MONDO_0009838
Parana hard-skin syndrome
http://purl.obolibrary.org/obo/GARD_0002598 EquivalentTo 'Parana hard-skin syndrome'
http://purl.obolibrary.org/obo/MONDO_0009837
choroid plexus papilloma
'choroid plexus papilloma' SubClassOf 'vascular disease'
'choroid plexus papilloma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000177
'choroid plexus papilloma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/GARD_0004214 EquivalentTo 'choroid plexus papilloma'
http://purl.obolibrary.org/obo/MONDO_0009833
Shwachman-Diamond syndrome
'Shwachman-Diamond syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'Shwachman-Diamond syndrome' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0010820
autosomal recessive juvenile Parkinson disease 2
http://purl.obolibrary.org/obo/GARD_0009642 EquivalentTo 'autosomal recessive juvenile Parkinson disease 2'
http://purl.obolibrary.org/obo/MONDO_0009831
malignant pancreatic neoplasm
'malignant pancreatic neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000359
http://purl.obolibrary.org/obo/MONDO_0009830
Parkinsonian-pyramidal syndrome
http://purl.obolibrary.org/obo/GARD_0009175 EquivalentTo 'Parkinsonian-pyramidal syndrome'
http://purl.obolibrary.org/obo/MONDO_0010825
atrioventricular defect-blepharophimosis-radial and anal defect syndrome
'atrioventricular defect-blepharophimosis-radial and anal defect syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0010824
disorder of sex development-intellectual disability syndrome
http://purl.obolibrary.org/obo/MESH_C535693 EquivalentTo 'disorder of sex development-intellectual disability syndrome'
http://purl.obolibrary.org/obo/GARD_0004550 EquivalentTo 'disorder of sex development-intellectual disability syndrome'
http://purl.obolibrary.org/obo/MONDO_0009849
hyperimmunoglobulinemia d with periodic fever
http://purl.obolibrary.org/obo/GARD_0002788 EquivalentTo 'hyperimmunoglobulinemia d with periodic fever'
http://purl.obolibrary.org/obo/MONDO_0009845
pelviscapular dysplasia
http://purl.obolibrary.org/obo/GARD_0001555 EquivalentTo 'pelviscapular dysplasia'
http://purl.obolibrary.org/obo/MONDO_0010831
familial caudal dysgenesis
http://purl.obolibrary.org/obo/GARD_0000215 EquivalentTo 'familial caudal dysgenesis'
http://purl.obolibrary.org/obo/GARD_0004751 EquivalentTo 'familial caudal dysgenesis'
http://purl.obolibrary.org/obo/MONDO_0009840
Partington-Anderson syndrome
'Partington-Anderson syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_2829
http://purl.obolibrary.org/obo/MONDO_0010835
pterygium colli-intellectual disability-digital anomalies syndrome
http://purl.obolibrary.org/obo/GARD_0004568 EquivalentTo 'pterygium colli-intellectual disability-digital anomalies syndrome'
http://purl.obolibrary.org/obo/MONDO_0010837
primary hyperparathyroidism (disease)
'primary hyperparathyroidism (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008519
http://purl.obolibrary.org/obo/MONDO_0009859
PHAVER syndrome
'PHAVER syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'PHAVER syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0010842
multiple cutaneous and mucosal venous malformations
'multiple cutaneous and mucosal venous malformations' EquivalentTo http://purl.obolibrary.org/obo/SCTID_699301008
http://purl.obolibrary.org/obo/MONDO_0009853
Imerslund-Grasbeck syndrome
http://purl.obolibrary.org/obo/GARD_0007006 EquivalentTo 'Imerslund-Grasbeck syndrome'
http://purl.obolibrary.org/obo/MONDO_0010845
macrothrombocytopenia and progressive sensorineural deafness
http://purl.obolibrary.org/obo/GARD_0000179 EquivalentTo 'macrothrombocytopenia and progressive sensorineural deafness'
http://purl.obolibrary.org/obo/MONDO_0009852
congenital intrinsic factor deficiency
http://purl.obolibrary.org/obo/GARD_0003024 EquivalentTo 'congenital intrinsic factor deficiency'
http://purl.obolibrary.org/obo/MONDO_0010847
spinocerebellar ataxia type 4
http://purl.obolibrary.org/obo/GARD_0009970 EquivalentTo 'spinocerebellar ataxia type 4'
http://purl.obolibrary.org/obo/MONDO_0010846
EXT3
http://purl.obolibrary.org/obo/MESH_C563975 EquivalentTo 'EXT3'
http://purl.obolibrary.org/obo/GARD_0002206 EquivalentTo 'EXT3'
http://purl.obolibrary.org/obo/MONDO_0010849
palmoplantar keratoderma, Bothnian type
http://purl.obolibrary.org/obo/GARD_0001862 EquivalentTo 'palmoplantar keratoderma, Bothnian type'
http://purl.obolibrary.org/obo/MONDO_0010848
spinocerebellar ataxia type 5
http://purl.obolibrary.org/obo/GARD_0004953 EquivalentTo 'spinocerebellar ataxia type 5'
http://purl.obolibrary.org/obo/MONDO_0010840
pachygyria-intellectual disability-epilepsy syndrome
http://purl.obolibrary.org/obo/GARD_0000409 EquivalentTo 'pachygyria-intellectual disability-epilepsy syndrome'
http://purl.obolibrary.org/obo/MONDO_0009869
isolated Pierre-Robin syndrome
'isolated Pierre-Robin syndrome' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/HP_0000201
http://purl.obolibrary.org/obo/GARD_0004347 EquivalentTo 'isolated Pierre-Robin syndrome'
http://purl.obolibrary.org/obo/GARD_0004354 EquivalentTo 'isolated Pierre-Robin syndrome'
http://purl.obolibrary.org/obo/MONDO_0009866
Phosphoenolpyruvate carboxykinase deficiency, cytosolic
http://purl.obolibrary.org/obo/GARD_0004278 EquivalentTo 'Phosphoenolpyruvate carboxykinase deficiency, cytosolic'
http://purl.obolibrary.org/obo/MONDO_0009865
glycogen storage disease due to phosphoglycerate mutase deficiency
'glycogen storage disease due to phosphoglycerate mutase deficiency' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C131647
http://purl.obolibrary.org/obo/GARD_0009964 EquivalentTo 'glycogen storage disease due to phosphoglycerate mutase deficiency'
'glycogen storage disease due to phosphoglycerate mutase deficiency' EquivalentTo http://purl.obolibrary.org/obo/SCTID_61772003
http://purl.obolibrary.org/obo/MONDO_0010854
Toriello-Lacassie-Droste syndrome
http://purl.obolibrary.org/obo/GARD_0010366 EquivalentTo 'Toriello-Lacassie-Droste syndrome'
http://purl.obolibrary.org/obo/MONDO_0009864
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial
http://purl.obolibrary.org/obo/GARD_0004279 EquivalentTo 'Phosphoenolpyruvate carboxykinase deficiency, mitochondrial'
http://purl.obolibrary.org/obo/MONDO_0009863
Bh4-deficient hyperphenylalaninemia A
http://purl.obolibrary.org/obo/GARD_0005682 EquivalentTo 'Bh4-deficient hyperphenylalaninemia A'
http://purl.obolibrary.org/obo/MESH_C535325 EquivalentTo 'Bh4-deficient hyperphenylalaninemia A'
http://purl.obolibrary.org/obo/MONDO_0010856
autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
http://purl.obolibrary.org/obo/GARD_0009481 EquivalentTo 'autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis'
http://purl.obolibrary.org/obo/MONDO_0010855
short tarsus-absence of lower eyelashes syndrome
'short tarsus-absence of lower eyelashes syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'short tarsus-absence of lower eyelashes syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0000296 EquivalentTo 'short tarsus-absence of lower eyelashes syndrome'
http://purl.obolibrary.org/obo/MONDO_0009861
phenylketonuria
http://purl.obolibrary.org/obo/GARD_0007383 EquivalentTo 'phenylketonuria'
http://purl.obolibrary.org/obo/MONDO_0010857
semantic dementia
http://purl.obolibrary.org/obo/GARD_0010792 EquivalentTo 'semantic dementia'
http://purl.obolibrary.org/obo/MONDO_0010852
chromosome 8Q12.1-Q21.2 deletion syndrome
http://purl.obolibrary.org/obo/GARD_0010002 EquivalentTo 'chromosome 8Q12.1-Q21.2 deletion syndrome'
http://purl.obolibrary.org/obo/MONDO_0010851
Lowry-MacLean syndrome
http://purl.obolibrary.org/obo/GARD_0003300 EquivalentTo 'Lowry-MacLean syndrome'
http://purl.obolibrary.org/obo/MONDO_0009879
short stature due to growth hormone qualitative anomaly
http://purl.obolibrary.org/obo/GARD_0000408 EquivalentTo 'short stature due to growth hormone qualitative anomaly'
http://purl.obolibrary.org/obo/MESH_C537505 EquivalentTo 'short stature due to growth hormone qualitative anomaly'
http://purl.obolibrary.org/obo/MONDO_0009877
Laron syndrome
http://purl.obolibrary.org/obo/GARD_0006859 EquivalentTo 'Laron syndrome'
http://purl.obolibrary.org/obo/MONDO_0009875
achromatopsia 3
http://purl.obolibrary.org/obo/GARD_0009650 EquivalentTo 'achromatopsia 3'
http://purl.obolibrary.org/obo/MONDO_0010867
PARC syndrome
'PARC syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0009873
Pilodental dysplasia-refractive errors syndrome
http://purl.obolibrary.org/obo/GARD_0000277 EquivalentTo 'Pilodental dysplasia-refractive errors syndrome'
http://purl.obolibrary.org/obo/MONDO_0010866
infantile osteopetrosis with neuroaxonal dysplasia
http://purl.obolibrary.org/obo/GARD_0010082 EquivalentTo 'infantile osteopetrosis with neuroaxonal dysplasia'
http://purl.obolibrary.org/obo/MONDO_0009872
Bjornstad syndrome
'Bjornstad syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0002779
http://purl.obolibrary.org/obo/MONDO_0009871
pili torti-developmental delay-neurological abnormalities syndrome
http://purl.obolibrary.org/obo/GARD_0004362 EquivalentTo 'pili torti-developmental delay-neurological abnormalities syndrome'
http://purl.obolibrary.org/obo/MONDO_0010868
RMD1
http://purl.obolibrary.org/obo/GARD_0009165 EquivalentTo 'RMD1'
http://purl.obolibrary.org/obo/MONDO_0009870
pili torti (disease)
http://purl.obolibrary.org/obo/GARD_0004361 EquivalentTo 'pili torti (disease)'
http://purl.obolibrary.org/obo/MONDO_0009889
autosomal recessive polycystic kidney disease
http://purl.obolibrary.org/obo/GARD_0008378 EquivalentTo 'autosomal recessive polycystic kidney disease'
http://purl.obolibrary.org/obo/MONDO_0009887
desquamative interstitial pneumonia
'desquamative interstitial pneumonia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_8549006
http://purl.obolibrary.org/obo/MONDO_0010878
hereditary spastic paraplegia 6
http://purl.obolibrary.org/obo/GARD_0004928 EquivalentTo 'hereditary spastic paraplegia 6'
http://purl.obolibrary.org/obo/MONDO_0010877
Charcot-Marie-tooth disease type 5
http://purl.obolibrary.org/obo/GARD_0009208 EquivalentTo 'Charcot-Marie-tooth disease type 5'
http://purl.obolibrary.org/obo/MONDO_0009883
alpha-2-plasmin inhibitor deficiency
'alpha-2-plasmin inhibitor deficiency' EquivalentTo http://purl.obolibrary.org/obo/SCTID_716746003
http://purl.obolibrary.org/obo/GARD_0000731 EquivalentTo 'alpha-2-plasmin inhibitor deficiency'
http://purl.obolibrary.org/obo/MONDO_0010879
CODAS syndrome
'CODAS syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'CODAS syndrome' SubClassOf 'spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia'
'CODAS syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0009880
short stature-pituitary and cerebellar defects-small sella turcica syndrome
http://purl.obolibrary.org/obo/GARD_0010604 EquivalentTo 'short stature-pituitary and cerebellar defects-small sella turcica syndrome'
http://purl.obolibrary.org/obo/MONDO_0019209
Japanese encephalitis
'Japanese encephalitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34577
http://purl.obolibrary.org/obo/MONDO_0010871
succinic acidemia
'succinic acidemia' EquivalentTo http://www.orpha.net/ORDO/Orphanet_936
http://purl.obolibrary.org/obo/MONDO_0019203
acute interstitial pneumonia
http://purl.obolibrary.org/obo/GARD_0012835 EquivalentTo 'acute interstitial pneumonia'
http://purl.obolibrary.org/obo/MONDO_0019200
retinitis pigmentosa
http://purl.obolibrary.org/obo/GARD_0005694 EquivalentTo 'retinitis pigmentosa'
http://purl.obolibrary.org/obo/MONDO_0010886
2q37 microdeletion syndrome
http://purl.obolibrary.org/obo/GARD_0010202 EquivalentTo '2q37 microdeletion syndrome'
http://purl.obolibrary.org/obo/MONDO_0010888
endometriosis of uterus
'endometriosis of uterus' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001757
http://purl.obolibrary.org/obo/GARD_0008156 EquivalentTo 'endometriosis of uterus'
http://purl.obolibrary.org/obo/MONDO_0009891
polycythemia vera
http://purl.obolibrary.org/obo/GARD_0007422 EquivalentTo 'polycythemia vera'
http://purl.obolibrary.org/obo/MONDO_0010881
mesomelia-synostoses syndrome
'mesomelia-synostoses syndrome' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0010883
pectus excavatum-macrocephaly-dysplastic nails syndrome
'pectus excavatum-macrocephaly-dysplastic nails syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'pectus excavatum-macrocephaly-dysplastic nails syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0000374 EquivalentTo 'pectus excavatum-macrocephaly-dysplastic nails syndrome'
http://purl.obolibrary.org/obo/MONDO_0019217
inborn disorder of urea cycle metabolism and ammonia detoxification
http://purl.obolibrary.org/obo/GARD_0007837 EquivalentTo 'inborn disorder of urea cycle metabolism and ammonia detoxification'
http://purl.obolibrary.org/obo/MONDO_0019212
disseminated superficial actinic porokeratosis
'disseminated superficial actinic porokeratosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0022202
http://purl.obolibrary.org/obo/MONDO_0019214
inborn carbohydrate metabolic disorder
'inborn carbohydrate metabolic disorder' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C97089
http://purl.obolibrary.org/obo/MONDO_0019211
isolated congenital anonychia
http://purl.obolibrary.org/obo/GARD_0012930 EquivalentTo 'isolated congenital anonychia'
http://purl.obolibrary.org/obo/MONDO_0019210
cutaneous neuroendocrine carcinoma
http://purl.obolibrary.org/obo/GARD_0009266 EquivalentTo 'cutaneous neuroendocrine carcinoma'
http://purl.obolibrary.org/obo/MESH_D015266 EquivalentTo 'cutaneous neuroendocrine carcinoma'
http://purl.obolibrary.org/obo/MONDO_0010898
familial temporal lobe epilepsy 1
http://purl.obolibrary.org/obo/GARD_0002257 EquivalentTo 'familial temporal lobe epilepsy 1'
http://purl.obolibrary.org/obo/MONDO_0010890
acrocardiofacial syndrome
http://purl.obolibrary.org/obo/GARD_0001167 EquivalentTo 'acrocardiofacial syndrome'
http://purl.obolibrary.org/obo/MONDO_0010892
mitochondrial myopathy and sideroblastic anemia
http://purl.obolibrary.org/obo/GARD_0003885 EquivalentTo 'mitochondrial myopathy and sideroblastic anemia'
http://purl.obolibrary.org/obo/MONDO_0010891
lethal hemolytic anemia-genital anomalies syndrome
http://purl.obolibrary.org/obo/GARD_0002642 EquivalentTo 'lethal hemolytic anemia-genital anomalies syndrome'
http://purl.obolibrary.org/obo/MONDO_0010894
maturity-onset diabetes of the young type 3
'maturity-onset diabetes of the young type 3' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C129742
http://purl.obolibrary.org/obo/MONDO_0010895
ABCD syndrome
'ABCD syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_918
http://purl.obolibrary.org/obo/MONDO_0019234
peroxisome biogenesis disorder
http://purl.obolibrary.org/obo/MESH_C531857 EquivalentTo 'peroxisome biogenesis disorder'
http://purl.obolibrary.org/obo/GARD_0009473 EquivalentTo 'peroxisome biogenesis disorder'
http://purl.obolibrary.org/obo/GARD_0011890 EquivalentTo 'peroxisome biogenesis disorder'
http://purl.obolibrary.org/obo/MONDO_0019241
inborn disorder of the gamma-glutamyl cycle
'inborn disorder of the gamma-glutamyl cycle' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism'
'inborn disorder of the gamma-glutamyl cycle' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism'
http://purl.obolibrary.org/obo/MONDO_0020250
autosomal dominant optic atrophy
'autosomal dominant optic atrophy' SubClassOf 'inherited neurodegenerative disorder'
'autosomal dominant optic atrophy' SubClassOf 'optic atrophy'
'autosomal dominant optic atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043878
http://purl.obolibrary.org/obo/GARD_0011972 EquivalentTo 'autosomal dominant optic atrophy'
http://purl.obolibrary.org/obo/MONDO_0019257
hemochromatosis type 2
http://purl.obolibrary.org/obo/GARD_0010092 EquivalentTo 'hemochromatosis type 2'
http://purl.obolibrary.org/obo/MONDO_0019267
vitamin B12-unresponsive methylmalonic acidemia type mut-
'vitamin B12-unresponsive methylmalonic acidemia type mut-' EquivalentTo http://purl.obolibrary.org/obo/SCTID_237946002
http://purl.obolibrary.org/obo/MONDO_0020271
phakomatosis with eye involvement
'phakomatosis with eye involvement' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042983
http://purl.obolibrary.org/obo/MONDO_0020276
pigmentation disorder with eye involvement, excluding albinism
'oculocutaneous or ocular albinism' DisjointWith 'pigmentation disorder with eye involvement, excluding albinism'
http://purl.obolibrary.org/obo/MONDO_0020275
oculocutaneous or ocular albinism
'oculocutaneous or ocular albinism' DisjointWith 'pigmentation disorder with eye involvement, excluding albinism'
'oculocutaneous or ocular albinism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043209
http://purl.obolibrary.org/obo/MONDO_0019293
skin vascular disease
'skin vascular disease' SubClassOf 'skin disease'
'skin vascular disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35254
'skin vascular disease' SubClassOf 'skin disease'
http://purl.obolibrary.org/obo/MESH_D017445 EquivalentTo 'skin vascular disease'
http://purl.obolibrary.org/obo/MONDO_0019290
hypopigmentation of the skin (disease)
'hypopigmentation of the skin (disease)' SubClassOf 'pigmentation anomaly of the skin'
'hypopigmentation of the skin (disease)' EquivalentTo 'disease' and ('disease has major feature' some http://purl.obolibrary.org/obo/HP_0001010)
'hypopigmentation of the skin (disease)' SubClassOf 'pigmentation anomaly of the skin'
http://purl.obolibrary.org/obo/MESH_D017496 EquivalentTo 'hypopigmentation of the skin (disease)'
'hypopigmentation of the skin (disease)' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0001010
http://purl.obolibrary.org/obo/MONDO_0019289
hyperpigmentation of the skin
'hyperpigmentation of the skin' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0000953
'hyperpigmentation of the skin' EquivalentTo 'disease' and ('disease has major feature' some http://purl.obolibrary.org/obo/HP_0000953)
http://purl.obolibrary.org/obo/MONDO_0019288
pigmentation anomaly of the skin
'pigmentation anomaly of the skin' SubClassOf 'rare genetic skin disease'
http://purl.obolibrary.org/obo/DOID_10123 EquivalentTo 'pigmentation anomaly of the skin'
http://purl.obolibrary.org/obo/MESH_D010859 EquivalentTo 'pigmentation anomaly of the skin'
'pigmentation anomaly of the skin' EquivalentTo 'pigmentation disease' and ('disease has location' some http://purl.obolibrary.org/obo/UBERON_0000014)
'pigmentation anomaly of the skin' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000755
'pigmentation anomaly of the skin' SubClassOf 'skin disease'
http://purl.obolibrary.org/obo/MONDO_0019287
ectodermal dysplasia syndrome
http://purl.obolibrary.org/obo/GARD_0006317 EquivalentTo 'ectodermal dysplasia syndrome'
http://purl.obolibrary.org/obo/MONDO_0020290
atrioventricular septal defect
http://purl.obolibrary.org/obo/GARD_0000802 EquivalentTo 'atrioventricular septal defect'
http://purl.obolibrary.org/obo/MONDO_0020296
congenital arteriovenous fistula
http://purl.obolibrary.org/obo/MESH_D001164 EquivalentTo 'congenital arteriovenous fistula'
http://purl.obolibrary.org/obo/MONDO_0009704
carnitine palmitoyl transferase II deficiency, myopathic form
http://purl.obolibrary.org/obo/MESH_C563461 EquivalentTo 'carnitine palmitoyl transferase II deficiency, myopathic form'
http://purl.obolibrary.org/obo/MONDO_0009700
Carey-Fineman-Ziter syndrome
'Carey-Fineman-Ziter syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0009709
myopathy, centronuclear, 2
http://purl.obolibrary.org/obo/MESH_C562934 EquivalentTo 'myopathy, centronuclear, 2'
http://purl.obolibrary.org/obo/MONDO_0010708
W syndrome
http://purl.obolibrary.org/obo/GARD_0000358 EquivalentTo 'W syndrome'
http://purl.obolibrary.org/obo/MONDO_0009717
Schwartz-Jampel syndrome
http://purl.obolibrary.org/obo/GARD_0000250 EquivalentTo 'Schwartz-Jampel syndrome'
'Schwartz-Jampel syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0009716
Richieri Costa-da Silva syndrome
'Richieri Costa-da Silva syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0010709
early-onset parkinsonism-intellectual disability syndrome
http://purl.obolibrary.org/obo/GARD_0003203 EquivalentTo 'early-onset parkinsonism-intellectual disability syndrome'
http://purl.obolibrary.org/obo/MONDO_0009713
MYP18
http://purl.obolibrary.org/obo/MESH_C567606 EquivalentTo 'MYP18'
http://purl.obolibrary.org/obo/MONDO_0009712
congenital multicore myopathy with external ophthalmoplegia
http://purl.obolibrary.org/obo/GARD_0010316 EquivalentTo 'congenital multicore myopathy with external ophthalmoplegia'
http://purl.obolibrary.org/obo/MONDO_0009711
congenital fiber-type disproportion myopathy
http://purl.obolibrary.org/obo/GARD_0006161 EquivalentTo 'congenital fiber-type disproportion myopathy'
http://purl.obolibrary.org/obo/MONDO_0009710
myotonia congenita
http://purl.obolibrary.org/obo/GARD_0012301 EquivalentTo 'myotonia congenita'
http://purl.obolibrary.org/obo/MONDO_0010702
orofaciodigital syndrome I
http://purl.obolibrary.org/obo/GARD_0004121 EquivalentTo 'orofaciodigital syndrome I'
'orofaciodigital syndrome I' SubClassOf 'cystic kidney disease'
http://purl.obolibrary.org/obo/MONDO_0010704
Otopalatodigital syndrome type 1
http://purl.obolibrary.org/obo/GARD_0005121 EquivalentTo 'Otopalatodigital syndrome type 1'
http://purl.obolibrary.org/obo/MONDO_0010703
ornithine carbamoyltransferase deficiency
http://purl.obolibrary.org/obo/GARD_0008391 EquivalentTo 'ornithine carbamoyltransferase deficiency'
http://purl.obolibrary.org/obo/MONDO_0010706
premature ovarian failure 1
http://purl.obolibrary.org/obo/GARD_0004480 EquivalentTo 'premature ovarian failure 1'
http://purl.obolibrary.org/obo/MONDO_0010718
absent radius-anogenital anomalies syndrome
http://purl.obolibrary.org/obo/GARD_0004633 EquivalentTo 'absent radius-anogenital anomalies syndrome'
http://purl.obolibrary.org/obo/MONDO_0009728
nephronophthisis 1
'nephronophthisis 1' EquivalentTo http://purl.obolibrary.org/obo/SCTID_444830001
http://purl.obolibrary.org/obo/MONDO_0009727
atelosteogenesis type II
http://purl.obolibrary.org/obo/GARD_0008329 EquivalentTo 'atelosteogenesis type II'
http://purl.obolibrary.org/obo/MONDO_0009726
proteasome disability syndrome
http://purl.obolibrary.org/obo/MESH_C538334 EquivalentTo 'proteasome disability syndrome'
http://purl.obolibrary.org/obo/GARD_0003917 EquivalentTo 'proteasome disability syndrome'
http://purl.obolibrary.org/obo/MONDO_0009724
nail-patella-like renal disease
http://purl.obolibrary.org/obo/GARD_0000321 EquivalentTo 'nail-patella-like renal disease'
http://purl.obolibrary.org/obo/MONDO_0009722
Native american myopathy
http://purl.obolibrary.org/obo/GARD_0008432 EquivalentTo 'Native american myopathy'
http://purl.obolibrary.org/obo/MONDO_0009720
Keipert syndrome
'Keipert syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'Keipert syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0000267 EquivalentTo 'Keipert syndrome'
http://purl.obolibrary.org/obo/MONDO_0010713
Properdin deficiency
http://purl.obolibrary.org/obo/GARD_0009913 EquivalentTo 'Properdin deficiency'
http://purl.obolibrary.org/obo/GARD_0004513 EquivalentTo 'Properdin deficiency'
http://purl.obolibrary.org/obo/MESH_C537241 EquivalentTo 'Properdin deficiency'
http://purl.obolibrary.org/obo/MONDO_0010712
panhypopituitarism, X-linked
http://purl.obolibrary.org/obo/MESH_C538613 EquivalentTo 'panhypopituitarism, X-linked'
http://purl.obolibrary.org/obo/MONDO_0010717
pyruvate dehydrogenase E1-alpha deficiency
http://purl.obolibrary.org/obo/GARD_0004620 EquivalentTo 'pyruvate dehydrogenase E1-alpha deficiency'
http://purl.obolibrary.org/obo/MONDO_0010729
X-linked intellectual disability, Schimke type
http://purl.obolibrary.org/obo/GARD_0009288 EquivalentTo 'X-linked intellectual disability, Schimke type'
http://purl.obolibrary.org/obo/MONDO_0009739
infantile neuroaxonal dystrophy
http://purl.obolibrary.org/obo/GARD_0003957 EquivalentTo 'infantile neuroaxonal dystrophy'
http://purl.obolibrary.org/obo/MONDO_0009738
sialidosis type 2
'sialidosis type 2' SubClassOf 'sialidosis'
http://purl.obolibrary.org/obo/GARD_0007183 EquivalentTo 'sialidosis type 2'
'sialidosis type 2' SubClassOf 'sialidosis'
http://purl.obolibrary.org/obo/MONDO_0009733
nephrotic syndrome, type 4
http://purl.obolibrary.org/obo/GARD_0003547 EquivalentTo 'nephrotic syndrome, type 4'
'nephrotic syndrome, type 4' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C121198
http://purl.obolibrary.org/obo/MONDO_0010721
reticuloendotheliosis, X-linked
http://purl.obolibrary.org/obo/GARD_0007559 EquivalentTo 'reticuloendotheliosis, X-linked'
http://purl.obolibrary.org/obo/MONDO_0009731
nephrosis-deafness-urinary tract-digital malformations syndrome
'nephrosis-deafness-urinary tract-digital malformations syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0003943 EquivalentTo 'nephrosis-deafness-urinary tract-digital malformations syndrome'
http://purl.obolibrary.org/obo/MONDO_0010726
Rett syndrome
http://purl.obolibrary.org/obo/GARD_0005696 EquivalentTo 'Rett syndrome'
http://purl.obolibrary.org/obo/MONDO_0010725
X-linked retinoschisis
http://purl.obolibrary.org/obo/GARD_0004690 EquivalentTo 'X-linked retinoschisis'
http://purl.obolibrary.org/obo/MONDO_0010728
SCARF syndrome
http://purl.obolibrary.org/obo/GARD_0000247 EquivalentTo 'SCARF syndrome'
http://purl.obolibrary.org/obo/MONDO_0009749
giant axonal neuropathy 1
http://purl.obolibrary.org/obo/GARD_0006500 EquivalentTo 'giant axonal neuropathy 1'
http://purl.obolibrary.org/obo/MONDO_0009747
Navajo neurohepatopathy
http://purl.obolibrary.org/obo/GARD_0003972 EquivalentTo 'Navajo neurohepatopathy'
http://purl.obolibrary.org/obo/MONDO_0009746
hereditary sensory and autonomic neuropathy type 4
http://purl.obolibrary.org/obo/GARD_0003006 EquivalentTo 'hereditary sensory and autonomic neuropathy type 4'
http://purl.obolibrary.org/obo/MONDO_0010733
hereditary spastic paraplegia 2
http://purl.obolibrary.org/obo/GARD_0004923 EquivalentTo 'hereditary spastic paraplegia 2'
http://purl.obolibrary.org/obo/MONDO_0010732
spastic paraparesis-deafness syndrome
http://purl.obolibrary.org/obo/GARD_0005555 EquivalentTo 'spastic paraparesis-deafness syndrome'
http://purl.obolibrary.org/obo/MONDO_0010735
Kennedy disease
http://purl.obolibrary.org/obo/GARD_0006818 EquivalentTo 'Kennedy disease'
http://purl.obolibrary.org/obo/MONDO_0009742
neuroectodermal melanolysosomal disease
'neuroectodermal melanolysosomal disease' SubClassOf 'Acrocephalopolydactyly'
'neuroectodermal melanolysosomal disease' SubClassOf 'rare genetic skin disease'
http://purl.obolibrary.org/obo/MONDO_0010736
split hand-foot malformation 2
http://purl.obolibrary.org/obo/GARD_0004968 EquivalentTo 'split hand-foot malformation 2'
http://purl.obolibrary.org/obo/MONDO_0010738
spondylometaphyseal dysplasia, golden type
http://purl.obolibrary.org/obo/GARD_0008343 EquivalentTo 'spondylometaphyseal dysplasia, golden type'
http://purl.obolibrary.org/obo/MONDO_0009757
Niemann-Pick disease, type C1
http://purl.obolibrary.org/obo/GARD_0007207 EquivalentTo 'Niemann-Pick disease, type C1'
http://purl.obolibrary.org/obo/MONDO_0009756
Niemann-Pick disease type A
http://purl.obolibrary.org/obo/GARD_0007206 EquivalentTo 'Niemann-Pick disease type A'
http://purl.obolibrary.org/obo/MONDO_0010744
thrombocytopenia with elevated serum Iga and renal disease
http://purl.obolibrary.org/obo/GARD_0010576 EquivalentTo 'thrombocytopenia with elevated serum Iga and renal disease'
http://purl.obolibrary.org/obo/MONDO_0009755
neutrophil actin dysfunction
'neutrophil actin dysfunction' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3694
http://purl.obolibrary.org/obo/MESH_C564942 EquivalentTo 'neutrophil actin dysfunction'
http://purl.obolibrary.org/obo/MONDO_0010743
X-linked thrombocytopenia with normal platelets
http://purl.obolibrary.org/obo/GARD_0005176 EquivalentTo 'X-linked thrombocytopenia with normal platelets'
http://purl.obolibrary.org/obo/MONDO_0010746
thumbs, congenital Clasped
http://purl.obolibrary.org/obo/GARD_0010277 EquivalentTo 'thumbs, congenital Clasped'
http://purl.obolibrary.org/obo/MONDO_0010748
torticollis-keloids-cryptorchidism-renal dysplasia syndrome
http://purl.obolibrary.org/obo/GARD_0005230 EquivalentTo 'torticollis-keloids-cryptorchidism-renal dysplasia syndrome'
http://purl.obolibrary.org/obo/MONDO_0010747
X-linked dystonia-parkinsonism
http://purl.obolibrary.org/obo/GARD_0010533 EquivalentTo 'X-linked dystonia-parkinsonism'
http://purl.obolibrary.org/obo/MONDO_0010749
trigonocephaly-short stature-developmental delay syndrome
http://purl.obolibrary.org/obo/GARD_0000243 EquivalentTo 'trigonocephaly-short stature-developmental delay syndrome'
http://purl.obolibrary.org/obo/MONDO_0010742
Pentalogy of Cantrell
'Pentalogy of Cantrell' SubClassOf 'rare genetic developmental defect during embryogenesis'
'Pentalogy of Cantrell' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0009768
oculodentodigital dysplasia, autosomal recessive
http://purl.obolibrary.org/obo/GARD_0004045 EquivalentTo 'oculodentodigital dysplasia, autosomal recessive'
http://purl.obolibrary.org/obo/MONDO_0009767
oculocerebral hypopigmentation syndrome, cross type
http://purl.obolibrary.org/obo/GARD_0000105 EquivalentTo 'oculocerebral hypopigmentation syndrome, cross type'
http://purl.obolibrary.org/obo/MONDO_0009766
oculocerebral hypopigmentation syndrome of Preus
http://purl.obolibrary.org/obo/GARD_0004034 EquivalentTo 'oculocerebral hypopigmentation syndrome of Preus'
http://purl.obolibrary.org/obo/MONDO_0009764
ocular motor apraxia, Cogan type
http://purl.obolibrary.org/obo/GARD_0000016 EquivalentTo 'ocular motor apraxia, Cogan type'
http://purl.obolibrary.org/obo/MONDO_0009762
nystagmus, congenital, autosomal recessive
http://purl.obolibrary.org/obo/GARD_0009609 EquivalentTo 'nystagmus, congenital, autosomal recessive'
http://purl.obolibrary.org/obo/MONDO_0010758
intellectual disability-developmental delay-contractures syndrome
http://purl.obolibrary.org/obo/GARD_0007890 EquivalentTo 'intellectual disability-developmental delay-contractures syndrome'
http://purl.obolibrary.org/obo/MONDO_0009761
cystic hygroma
http://purl.obolibrary.org/obo/GARD_0006234 EquivalentTo 'cystic hygroma'
http://purl.obolibrary.org/obo/MONDO_0009760
Norman-Roberts syndrome
'Norman-Roberts syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/GARD_0003277 EquivalentTo 'Norman-Roberts syndrome'
http://purl.obolibrary.org/obo/MONDO_0010750
ulnar hypoplasia-split foot syndrome
http://purl.obolibrary.org/obo/GARD_0005400 EquivalentTo 'ulnar hypoplasia-split foot syndrome'
http://purl.obolibrary.org/obo/MONDO_0010752
Vacterl association, X-linked, with or without hydrocephalus
http://purl.obolibrary.org/obo/GARD_0008498 EquivalentTo 'Vacterl association, X-linked, with or without hydrocephalus'
http://purl.obolibrary.org/obo/MONDO_0009779
autosomal recessive omodysplasia
http://purl.obolibrary.org/obo/GARD_0004076 EquivalentTo 'autosomal recessive omodysplasia'
'autosomal recessive omodysplasia' SubClassOf 'rare genetic developmental defect during embryogenesis'
'autosomal recessive omodysplasia' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0010766
46,XX testicular disorder of sex development
http://purl.obolibrary.org/obo/GARD_0000399 EquivalentTo '46,XX testicular disorder of sex development'
http://purl.obolibrary.org/obo/MONDO_0010765
46,XY complete gonadal dysgenesis
http://purl.obolibrary.org/obo/GARD_0005068 EquivalentTo '46,XY complete gonadal dysgenesis'
http://purl.obolibrary.org/obo/MONDO_0009774
cloacal exstrophy (disease)
http://purl.obolibrary.org/obo/GARD_0004080 EquivalentTo 'cloacal exstrophy (disease)'
http://purl.obolibrary.org/obo/MONDO_0009773
Odonto-onycho-dermal dysplasia
http://purl.obolibrary.org/obo/GARD_0004054 EquivalentTo 'Odonto-onycho-dermal dysplasia'
http://purl.obolibrary.org/obo/MONDO_0009770
3MC syndrome 1
'3MC syndrome 1' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001978
http://purl.obolibrary.org/obo/MONDO_0009787
3-methylglutaconic aciduria type 3
http://purl.obolibrary.org/obo/GARD_0005663 EquivalentTo '3-methylglutaconic aciduria type 3'
http://purl.obolibrary.org/obo/MONDO_0009786
OPA6
http://purl.obolibrary.org/obo/GARD_0010200 EquivalentTo 'OPA6'
http://purl.obolibrary.org/obo/MONDO_0010779
mitochondrial non-syndromic sensorineural deafness
http://purl.obolibrary.org/obo/GARD_0001709 EquivalentTo 'mitochondrial non-syndromic sensorineural deafness'
http://purl.obolibrary.org/obo/MONDO_0010773
myopathy and diabetes mellitus
http://purl.obolibrary.org/obo/GARD_0003881 EquivalentTo 'myopathy and diabetes mellitus'
http://purl.obolibrary.org/obo/MONDO_0010772
Leber optic atrophy and dystonia
http://purl.obolibrary.org/obo/GARD_0008476 EquivalentTo 'Leber optic atrophy and dystonia'
http://purl.obolibrary.org/obo/MONDO_0010775
retinitis pigmentosa-deafness syndrome
http://purl.obolibrary.org/obo/GARD_0004684 EquivalentTo 'retinitis pigmentosa-deafness syndrome'
http://purl.obolibrary.org/obo/MONDO_0019105
renal nutcracker syndrome
'renal nutcracker syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001838
http://purl.obolibrary.org/obo/GARD_0011971 EquivalentTo 'renal nutcracker syndrome'
http://purl.obolibrary.org/obo/MONDO_0019101
retinal capillary malformation
'retinal capillary malformation' SubClassOf 'rare genetic epilepsy'
'retinal capillary malformation' SubClassOf 'brain neoplasm'
'retinal capillary malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0010788
Leber hereditary optic neuropathy
http://purl.obolibrary.org/obo/GARD_0006870 EquivalentTo 'Leber hereditary optic neuropathy'
'Leber hereditary optic neuropathy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84808
http://purl.obolibrary.org/obo/MONDO_0009799
pachydermoperiostosis
'pachydermoperiostosis' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/GARD_0007299 EquivalentTo 'pachydermoperiostosis'
'pachydermoperiostosis' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0009798
intellectual disability-cataracts-calcified pinnae-myopathy syndrome
http://purl.obolibrary.org/obo/GARD_0004488 EquivalentTo 'intellectual disability-cataracts-calcified pinnae-myopathy syndrome'
http://purl.obolibrary.org/obo/MONDO_0009797
orotic aciduria
http://purl.obolibrary.org/obo/GARD_0005429 EquivalentTo 'orotic aciduria'
'orotic aciduria' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C98944
http://purl.obolibrary.org/obo/MONDO_0009796
gyrate atrophy
http://purl.obolibrary.org/obo/GARD_0007272 EquivalentTo 'gyrate atrophy'
http://purl.obolibrary.org/obo/MONDO_0010789
MELAS syndrome
http://purl.obolibrary.org/obo/GARD_0007009 EquivalentTo 'MELAS syndrome'
http://purl.obolibrary.org/obo/MONDO_0020110
pulmonary agenesis
http://purl.obolibrary.org/obo/GARD_0009119 EquivalentTo 'pulmonary agenesis'
http://purl.obolibrary.org/obo/MONDO_0009794
orofaciodigital syndrome IV
'orofaciodigital syndrome IV' EquivalentTo http://purl.obolibrary.org/obo/SCTID_239031000
http://purl.obolibrary.org/obo/MONDO_0009793
orofaciodigital syndrome III
'orofaciodigital syndrome III' EquivalentTo http://purl.obolibrary.org/obo/SCTID_239030004
http://purl.obolibrary.org/obo/MONDO_0009792
ichthyosis-oral and digital anomalies syndrome
'ichthyosis-oral and digital anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0002960 EquivalentTo 'ichthyosis-oral and digital anomalies syndrome'
http://purl.obolibrary.org/obo/MONDO_0019119
muscular channelopathy
'muscular channelopathy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001899
http://purl.obolibrary.org/obo/MONDO_0010798
proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome
http://purl.obolibrary.org/obo/GARD_0004532 EquivalentTo 'proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome'
http://purl.obolibrary.org/obo/MONDO_0010790
MERRF syndrome
http://purl.obolibrary.org/obo/GARD_0007144 EquivalentTo 'MERRF syndrome'
http://purl.obolibrary.org/obo/MONDO_0020108
autoimmune hemolytic anemia
http://purl.obolibrary.org/obo/GARD_0005870 EquivalentTo 'autoimmune hemolytic anemia'
http://purl.obolibrary.org/obo/MONDO_0010794
NARP syndrome
http://purl.obolibrary.org/obo/GARD_0000262 EquivalentTo 'NARP syndrome'
http://purl.obolibrary.org/obo/MONDO_0019124
microscopic polyangiitis
'microscopic polyangiitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0019127
polymyositis
http://purl.obolibrary.org/obo/GARD_0007425 EquivalentTo 'polymyositis'
http://purl.obolibrary.org/obo/MONDO_0019122
idiopathic acute eosinophilic pneumonia
http://purl.obolibrary.org/obo/GARD_0000519 EquivalentTo 'idiopathic acute eosinophilic pneumonia'
http://purl.obolibrary.org/obo/GARD_0000107 EquivalentTo 'idiopathic acute eosinophilic pneumonia'
http://purl.obolibrary.org/obo/MONDO_0019141
porokeratosis of Mibelli
http://purl.obolibrary.org/obo/GARD_0004438 EquivalentTo 'porokeratosis of Mibelli'
http://purl.obolibrary.org/obo/MONDO_0019140
acute ackee fruit intoxication
http://purl.obolibrary.org/obo/GARD_0009299 EquivalentTo 'acute ackee fruit intoxication'
http://purl.obolibrary.org/obo/MONDO_0020135
non-syndromic pontocerebellar hypoplasia
'non-syndromic pontocerebellar hypoplasia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_45163000
http://purl.obolibrary.org/obo/MONDO_0019139
acquired hemophilia
http://purl.obolibrary.org/obo/GARD_0010350 EquivalentTo 'acquired hemophilia'
http://purl.obolibrary.org/obo/MONDO_0019137
non-24-hour sleep-wake syndrome
http://purl.obolibrary.org/obo/GARD_0010949 EquivalentTo 'non-24-hour sleep-wake syndrome'
'non-24-hour sleep-wake syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_230496009
http://purl.obolibrary.org/obo/MONDO_0019131
ossification anomalies-psychomotor developmental delay syndrome
'ossification anomalies-psychomotor developmental delay syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0019134
central neurocytoma
'central neurocytoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000856
http://purl.obolibrary.org/obo/MONDO_0020124
neuromuscular junction disease
'neuromuscular junction disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_128213006
http://purl.obolibrary.org/obo/MONDO_0020122
idiopathic inflammatory myopathy
http://purl.obolibrary.org/obo/GARD_0009128 EquivalentTo 'idiopathic inflammatory myopathy'
http://purl.obolibrary.org/obo/MONDO_0019146
mendelian susceptibility to mycobacterial diseases
http://purl.obolibrary.org/obo/GARD_0012977 EquivalentTo 'mendelian susceptibility to mycobacterial diseases'
http://purl.obolibrary.org/obo/MONDO_0019149
cholesteryl ester storage disease
http://purl.obolibrary.org/obo/GARD_0012099 EquivalentTo 'cholesteryl ester storage disease'
http://purl.obolibrary.org/obo/MONDO_0019148
Wolman disease
'Wolman disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_238074007
'Wolman disease' SubClassOf 'lysosomal acid lipase deficiency'
http://purl.obolibrary.org/obo/GARD_0007899 EquivalentTo 'Wolman disease'
'Wolman disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_82500001
'Wolman disease' SubClassOf 'lysosomal acid lipase deficiency'
http://purl.obolibrary.org/obo/MONDO_0019162
pseudohypoaldosteronism type 2
http://purl.obolibrary.org/obo/GARD_0004553 EquivalentTo 'pseudohypoaldosteronism type 2'
http://purl.obolibrary.org/obo/MONDO_0019159
Loeffler endocarditis
'Loeffler endocarditis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C27044
http://purl.obolibrary.org/obo/MONDO_0019155
leydig cell hypoplasia
http://purl.obolibrary.org/obo/GARD_0003244 EquivalentTo 'leydig cell hypoplasia'
http://purl.obolibrary.org/obo/MONDO_0019174
infantile Refsum disease
http://purl.obolibrary.org/obo/GARD_0004648 EquivalentTo 'infantile Refsum disease'
http://purl.obolibrary.org/obo/MONDO_0019170
polyarteritis nodosa
http://purl.obolibrary.org/obo/GARD_0007360 EquivalentTo 'polyarteritis nodosa'
http://purl.obolibrary.org/obo/MONDO_0019169
pyruvate dehydrogenase deficiency
http://purl.obolibrary.org/obo/GARD_0007513 EquivalentTo 'pyruvate dehydrogenase deficiency'
http://purl.obolibrary.org/obo/MONDO_0019168
pyomyositis
'pyomyositis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001409
http://purl.obolibrary.org/obo/MONDO_0019167
immunoglobulin a vasculitis
http://purl.obolibrary.org/obo/GARD_0008204 EquivalentTo 'immunoglobulin a vasculitis'
http://purl.obolibrary.org/obo/MONDO_0020172
palpebral epidermal tumor
'palpebral epidermal tumor' EquivalentTo http://purl.obolibrary.org/obo/SCTID_126499002
http://purl.obolibrary.org/obo/MONDO_0019184
ankylostomiasis
http://purl.obolibrary.org/obo/GARD_0009742 EquivalentTo 'ankylostomiasis'
http://purl.obolibrary.org/obo/MONDO_0019181
non-syndromic X-linked intellectual disability
http://purl.obolibrary.org/obo/GARD_0003542 EquivalentTo 'non-syndromic X-linked intellectual disability'
http://purl.obolibrary.org/obo/MONDO_0019180
hereditary hemorrhagic telangiectasia
'hereditary hemorrhagic telangiectasia' SubClassOf 'rare genetic epilepsy'
http://purl.obolibrary.org/obo/MONDO_0020179
palpebral nevus
'palpebral nevus' EquivalentTo http://purl.obolibrary.org/obo/SCTID_231827008
http://purl.obolibrary.org/obo/MONDO_0020175
malignant tumor of palpebral epidermis
'malignant tumor of palpebral epidermis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_423425006
http://purl.obolibrary.org/obo/MONDO_0019178
auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
'auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0019196
Foix-Alajouanine syndrome
'Foix-Alajouanine syndrome' SubClassOf 'intracranial hemangioma'
'Foix-Alajouanine syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
'Foix-Alajouanine syndrome' SubClassOf 'nervous system benign neoplasm'
http://purl.obolibrary.org/obo/MONDO_0019192
AKT2-related familial partial lipodystrophy
http://purl.obolibrary.org/obo/GARD_0012599 EquivalentTo 'AKT2-related familial partial lipodystrophy'
http://purl.obolibrary.org/obo/MONDO_0019191
IgG4-related dacryoadenitis and sialadenitis
http://purl.obolibrary.org/obo/MESH_D008882 EquivalentTo 'IgG4-related dacryoadenitis and sialadenitis'
http://purl.obolibrary.org/obo/MONDO_0019187
Axenfeld-Rieger syndrome
'Axenfeld-Rieger syndrome' SubClassOf 'syndromic developmental defect of the eye'
'Axenfeld-Rieger syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
'Axenfeld-Rieger syndrome' SubClassOf 'rare eye disease due to a differentiation anomaly'
'Axenfeld-Rieger syndrome' SubClassOf 'syndromic developmental defect of the eye'
http://purl.obolibrary.org/obo/MONDO_0019188
Rubinstein-Taybi syndrome
http://purl.obolibrary.org/obo/GARD_0007593 EquivalentTo 'Rubinstein-Taybi syndrome'
http://purl.obolibrary.org/obo/MONDO_0020191
eyebrow/eyelashes pigmentation anomaly
'eyebrow/eyelashes pigmentation anomaly' SubClassOf 'rare genetic skin disease'
http://purl.obolibrary.org/obo/MONDO_0019198
sympathetic ophthalmia
http://purl.obolibrary.org/obo/MESH_D009879 EquivalentTo 'sympathetic ophthalmia'
http://purl.obolibrary.org/obo/MONDO_0009609
methylcobalamin deficiency type cblG
http://purl.obolibrary.org/obo/GARD_0002733 EquivalentTo 'methylcobalamin deficiency type cblG'
http://purl.obolibrary.org/obo/MONDO_0009607
brain demyelination due to methionine adenosyltransferase deficiency
http://purl.obolibrary.org/obo/GARD_0008397 EquivalentTo 'brain demyelination due to methionine adenosyltransferase deficiency'
http://purl.obolibrary.org/obo/MONDO_0009606
methemoglobinemia due to deficiency of methemoglobin reductase
http://purl.obolibrary.org/obo/GARD_0003909 EquivalentTo 'methemoglobinemia due to deficiency of methemoglobin reductase'
http://purl.obolibrary.org/obo/MONDO_0009603
neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
http://purl.obolibrary.org/obo/GARD_0013202 EquivalentTo 'neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency'
http://purl.obolibrary.org/obo/MONDO_0009602
metaphyseal modeling abnormality, skin lesions, and spastic paraplegia
http://purl.obolibrary.org/obo/GARD_0000217 EquivalentTo 'metaphyseal modeling abnormality, skin lesions, and spastic paraplegia'
http://purl.obolibrary.org/obo/MONDO_0009618
microcephaly-cardiomyopathy syndrome
http://purl.obolibrary.org/obo/GARD_0003609 EquivalentTo 'microcephaly-cardiomyopathy syndrome'
http://purl.obolibrary.org/obo/MONDO_0009614
vitamin B12-responsive methylmalonic acidemia type cblB
http://purl.obolibrary.org/obo/GARD_0009479 EquivalentTo 'vitamin B12-responsive methylmalonic acidemia type cblB'
http://purl.obolibrary.org/obo/MONDO_0009613
vitamin B12-responsive methylmalonic acidemia type cblA
'vitamin B12-responsive methylmalonic acidemia type cblA' SubClassOf 'vitamin B12-responsive methylmalonic acidemia'
'vitamin B12-responsive methylmalonic acidemia type cblA' SubClassOf 'vitamin B12-responsive methylmalonic acidemia'
http://purl.obolibrary.org/obo/GARD_0005500 EquivalentTo 'vitamin B12-responsive methylmalonic acidemia type cblA'
http://purl.obolibrary.org/obo/MONDO_0009612
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
http://purl.obolibrary.org/obo/GARD_0003586 EquivalentTo 'methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency'
http://purl.obolibrary.org/obo/MONDO_0009610
3-methylglutaconic aciduria type 1
http://purl.obolibrary.org/obo/GARD_0010321 EquivalentTo '3-methylglutaconic aciduria type 1'
http://purl.obolibrary.org/obo/MONDO_0010602
hemophilia A
http://purl.obolibrary.org/obo/GARD_0006591 EquivalentTo 'hemophilia A'
http://purl.obolibrary.org/obo/MONDO_0010619
X-linked hypophosphatemic rickets
http://purl.obolibrary.org/obo/GARD_0012943 EquivalentTo 'X-linked hypophosphatemic rickets'
http://purl.obolibrary.org/obo/MONDO_0009627
Galloway-Mowat syndrome
http://purl.obolibrary.org/obo/GARD_0000065 EquivalentTo 'Galloway-Mowat syndrome'
http://purl.obolibrary.org/obo/MONDO_0009626
pseudo-TORCH syndrome
http://purl.obolibrary.org/obo/GARD_0000815 EquivalentTo 'pseudo-TORCH syndrome'
http://purl.obolibrary.org/obo/GARD_0012426 EquivalentTo 'pseudo-TORCH syndrome'
http://purl.obolibrary.org/obo/MONDO_0009623
Nijmegen breakage syndrome
'Nijmegen breakage syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'Nijmegen breakage syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0010611
hydrocephalus with stenosis of the aqueduct of sylvius
'hydrocephalus with stenosis of the aqueduct of sylvius' EquivalentTo http://purl.obolibrary.org/obo/SCTID_71779008
http://purl.obolibrary.org/obo/GARD_0000434 EquivalentTo 'hydrocephalus with stenosis of the aqueduct of sylvius'
http://purl.obolibrary.org/obo/MONDO_0009621
microcephaly-cervical spine fusion anomalies syndrome
http://purl.obolibrary.org/obo/GARD_0003610 EquivalentTo 'microcephaly-cervical spine fusion anomalies syndrome'
'microcephaly-cervical spine fusion anomalies syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_715462003
http://purl.obolibrary.org/obo/MONDO_0010618
familial isolated hypoparathyroidism due to agenesis of parathyroid gland
'familial isolated hypoparathyroidism due to agenesis of parathyroid gland' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C131079
http://purl.obolibrary.org/obo/MONDO_0010617
male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
http://purl.obolibrary.org/obo/MESH_C564406 EquivalentTo 'male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome'
http://purl.obolibrary.org/obo/MONDO_0010610
holoprosencephaly-hypokinesia-congenital contractures syndrome
http://purl.obolibrary.org/obo/GARD_0003788 EquivalentTo 'holoprosencephaly-hypokinesia-congenital contractures syndrome'
http://purl.obolibrary.org/obo/MONDO_0009635
microvillus inclusion disease
http://purl.obolibrary.org/obo/GARD_0007039 EquivalentTo 'microvillus inclusion disease'
http://purl.obolibrary.org/obo/MONDO_0010623
ichthyosis and male hypogonadism
http://purl.obolibrary.org/obo/GARD_0009612 EquivalentTo 'ichthyosis and male hypogonadism'
http://purl.obolibrary.org/obo/MONDO_0009634
microtia with meatal atresia and conductive deafness
'microtia with meatal atresia and conductive deafness' SubClassOf 'syndromic disease'
http://purl.obolibrary.org/obo/GARD_0000357 EquivalentTo 'microtia with meatal atresia and conductive deafness'
http://purl.obolibrary.org/obo/GARD_0003657 EquivalentTo 'microtia with meatal atresia and conductive deafness'
http://purl.obolibrary.org/obo/MONDO_0010622
recessive X-linked ichthyosis
http://purl.obolibrary.org/obo/GARD_0007904 EquivalentTo 'recessive X-linked ichthyosis'
http://purl.obolibrary.org/obo/MONDO_0010624
ichthyosis follicularis-alopecia-photophobia syndrome
http://purl.obolibrary.org/obo/GARD_0002952 EquivalentTo 'ichthyosis follicularis-alopecia-photophobia syndrome'
http://purl.obolibrary.org/obo/MONDO_0010621
child syndrome
'child syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0009644
sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
http://purl.obolibrary.org/obo/MESH_C565373 EquivalentTo 'sulfite oxidase deficiency due to molybdenum cofactor deficiency type B'
http://purl.obolibrary.org/obo/MONDO_0009643
sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
http://purl.obolibrary.org/obo/MESH_C565372 EquivalentTo 'sulfite oxidase deficiency due to molybdenum cofactor deficiency type A'
http://purl.obolibrary.org/obo/MONDO_0010635
hypogonadotropic hypogonadism 1 with or without anosmia
http://purl.obolibrary.org/obo/GARD_0003071 EquivalentTo 'hypogonadotropic hypogonadism 1 with or without anosmia'
http://purl.obolibrary.org/obo/MONDO_0009642
orofaciodigital syndrome type II
http://purl.obolibrary.org/obo/GARD_0003701 EquivalentTo 'orofaciodigital syndrome type II'
http://purl.obolibrary.org/obo/MONDO_0010631
Bloch-Sulzberger syndrome
'Bloch-Sulzberger syndrome' SubClassOf 'pigmentation disease'
http://purl.obolibrary.org/obo/GARD_0006778 EquivalentTo 'Bloch-Sulzberger syndrome'
http://purl.obolibrary.org/obo/MESH_D007184 EquivalentTo 'Bloch-Sulzberger syndrome'
'Bloch-Sulzberger syndrome' SubClassOf 'pigmentation anomaly of the skin'
http://purl.obolibrary.org/obo/MONDO_0009659
mucopolysaccharidosis type 4A
http://purl.obolibrary.org/obo/GARD_0003785 EquivalentTo 'mucopolysaccharidosis type 4A'
http://purl.obolibrary.org/obo/MONDO_0009658
Sanfilippo syndrome type D
http://purl.obolibrary.org/obo/GARD_0007074 EquivalentTo 'Sanfilippo syndrome type D'
http://purl.obolibrary.org/obo/MONDO_0009657
Sanfilippo syndrome type C
http://purl.obolibrary.org/obo/GARD_0007073 EquivalentTo 'Sanfilippo syndrome type C'
http://purl.obolibrary.org/obo/MONDO_0010645
oculocerebrorenal syndrome
http://purl.obolibrary.org/obo/GARD_0003295 EquivalentTo 'oculocerebrorenal syndrome'
http://purl.obolibrary.org/obo/MONDO_0009656
Sanfilippo syndrome type B
http://purl.obolibrary.org/obo/GARD_0007072 EquivalentTo 'Sanfilippo syndrome type B'
http://purl.obolibrary.org/obo/MONDO_0009655
Sanfilippo syndrome type A
'Sanfilippo syndrome type A' SubClassOf 'disease disrupting molecular activity'
'Sanfilippo syndrome type A' SubClassOf 'disease caused by disruption of' some http://purl.obolibrary.org/obo/GO_0016250
http://purl.obolibrary.org/obo/GARD_0002649 EquivalentTo 'Sanfilippo syndrome type A'
http://purl.obolibrary.org/obo/GARD_0007071 EquivalentTo 'Sanfilippo syndrome type A'
http://purl.obolibrary.org/obo/MONDO_0009653
mucolipidosis type IV
http://purl.obolibrary.org/obo/GARD_0000094 EquivalentTo 'mucolipidosis type IV'
http://purl.obolibrary.org/obo/MONDO_0010649
isolated congenital megalocornea
http://purl.obolibrary.org/obo/GARD_0012648 EquivalentTo 'isolated congenital megalocornea'
http://purl.obolibrary.org/obo/MONDO_0009650
inclusion-cell disease
http://purl.obolibrary.org/obo/GARD_0006749 EquivalentTo 'inclusion-cell disease'
http://purl.obolibrary.org/obo/MONDO_0010641
X-linked diffuse leiomyomatosis-Alport syndrome
http://purl.obolibrary.org/obo/GARD_0002432 EquivalentTo 'X-linked diffuse leiomyomatosis-Alport syndrome'
http://purl.obolibrary.org/obo/MONDO_0009669
Werdnig-Hoffmann disease
http://purl.obolibrary.org/obo/GARD_0007883 EquivalentTo 'Werdnig-Hoffmann disease'
http://purl.obolibrary.org/obo/MONDO_0010656
intellectual disability, X-linked 1
http://purl.obolibrary.org/obo/GARD_0013221 EquivalentTo 'intellectual disability, X-linked 1'
http://purl.obolibrary.org/obo/MONDO_0009666
holocarboxylase synthetase deficiency
'holocarboxylase synthetase deficiency' SubClassOf 'disease caused by disruption of' some http://purl.obolibrary.org/obo/GO_0018271
'holocarboxylase synthetase deficiency' EquivalentTo http://purl.obolibrary.org/obo/SCTID_360369003
'holocarboxylase synthetase deficiency' SubClassOf 'disease disrupting molecular activity'
http://purl.obolibrary.org/obo/MONDO_0010655
X-linked intellectual disability with marfanoid habitus
http://purl.obolibrary.org/obo/GARD_0003307 EquivalentTo 'X-linked intellectual disability with marfanoid habitus'
http://purl.obolibrary.org/obo/MONDO_0009665
biotinidase deficiency
http://purl.obolibrary.org/obo/GARD_0000894 EquivalentTo 'biotinidase deficiency'
http://purl.obolibrary.org/obo/MONDO_0010657
methylmalonic acidemia with homocystinuria, type cblX
http://purl.obolibrary.org/obo/GARD_0013137 EquivalentTo 'methylmalonic acidemia with homocystinuria, type cblX'
http://purl.obolibrary.org/obo/MONDO_0009662
mucopolysaccharidosis type 7
'mucopolysaccharidosis type 7' SubClassOf 'mucopolysaccharidosis'
'mucopolysaccharidosis type 7' EquivalentTo http://purl.obolibrary.org/obo/SCTID_124470009
'mucopolysaccharidosis type 7' EquivalentTo http://purl.obolibrary.org/obo/SCTID_43916004
http://purl.obolibrary.org/obo/GARD_0007096 EquivalentTo 'mucopolysaccharidosis type 7'
'mucopolysaccharidosis type 7' SubClassOf 'mucopolysaccharidosis'
http://purl.obolibrary.org/obo/MONDO_0009661
mucopolysaccharidosis type 6
http://purl.obolibrary.org/obo/GARD_0007095 EquivalentTo 'mucopolysaccharidosis type 6'
http://purl.obolibrary.org/obo/MONDO_0009660
mucopolysaccharidosis type 4B
http://purl.obolibrary.org/obo/GARD_0003786 EquivalentTo 'mucopolysaccharidosis type 4B'
http://purl.obolibrary.org/obo/MONDO_0009670
lethal congenital contracture syndrome 1
'lethal congenital contracture syndrome 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0003227 EquivalentTo 'lethal congenital contracture syndrome 1'
http://purl.obolibrary.org/obo/MONDO_0010650
Melnick-Needles syndrome
'Melnick-Needles syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0010652
X-linked intellectual disability-seizures-psoriasis syndrome
http://purl.obolibrary.org/obo/GARD_0005238 EquivalentTo 'X-linked intellectual disability-seizures-psoriasis syndrome'
http://purl.obolibrary.org/obo/MONDO_0010654
Partington syndrome
http://purl.obolibrary.org/obo/GARD_0004235 EquivalentTo 'Partington syndrome'
http://purl.obolibrary.org/obo/MONDO_0010653
Renpenning syndrome
http://purl.obolibrary.org/obo/GARD_0009509 EquivalentTo 'Renpenning syndrome'
http://purl.obolibrary.org/obo/MONDO_0009678
Fukuyama congenital muscular dystrophy
'Fukuyama congenital muscular dystrophy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C126741
http://purl.obolibrary.org/obo/MONDO_0010667
Prieto syndrome
'Prieto syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C18058
http://purl.obolibrary.org/obo/GARD_0004482 EquivalentTo 'Prieto syndrome'
http://purl.obolibrary.org/obo/MONDO_0010666
Miles-Carpenter syndrome
http://purl.obolibrary.org/obo/GARD_0009984 EquivalentTo 'Miles-Carpenter syndrome'
http://purl.obolibrary.org/obo/MONDO_0009677
autosomal recessive limb-girdle muscular dystrophy type 2C
http://purl.obolibrary.org/obo/GARD_0002429 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2C'
http://purl.obolibrary.org/obo/MONDO_0009676
autosomal recessive limb-girdle muscular dystrophy type 2B
http://purl.obolibrary.org/obo/GARD_0008574 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2B'
http://purl.obolibrary.org/obo/MONDO_0010669
syndactyly type 8
http://purl.obolibrary.org/obo/MESH_C564100 EquivalentTo 'syndactyly type 8'
http://purl.obolibrary.org/obo/MONDO_0009675
autosomal recessive limb-girdle muscular dystrophy type 2A
http://purl.obolibrary.org/obo/GARD_0001057 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2A'
http://purl.obolibrary.org/obo/GARD_0003845 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2A'
http://purl.obolibrary.org/obo/MONDO_0010668
skeletal dysplasia-intellectual disability syndrome
'skeletal dysplasia-intellectual disability syndrome' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0009673
intermediate spinal muscular atrophy
http://purl.obolibrary.org/obo/GARD_0004945 EquivalentTo 'intermediate spinal muscular atrophy'
http://purl.obolibrary.org/obo/MONDO_0009672
juvenile spinal muscular atrophy
http://purl.obolibrary.org/obo/GARD_0000198 EquivalentTo 'juvenile spinal muscular atrophy'
http://purl.obolibrary.org/obo/MONDO_0009671
intellectual disability-myopathy-short stature-endocrine defect syndrome
http://purl.obolibrary.org/obo/GARD_0001358 EquivalentTo 'intellectual disability-myopathy-short stature-endocrine defect syndrome'
http://purl.obolibrary.org/obo/MONDO_0009680
congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
http://purl.obolibrary.org/obo/GARD_0000835 EquivalentTo 'congenital muscular dystrophy-infantile cataract-hypogonadism syndrome'
http://purl.obolibrary.org/obo/GARD_0003842 EquivalentTo 'congenital muscular dystrophy-infantile cataract-hypogonadism syndrome'
http://purl.obolibrary.org/obo/MONDO_0010661
severe X-linked intellectual disability, Gustavson type
http://purl.obolibrary.org/obo/GARD_0005611 EquivalentTo 'severe X-linked intellectual disability, Gustavson type'
http://purl.obolibrary.org/obo/MONDO_0010663
X-linked intellectual disability-hypotonic face syndrome
http://purl.obolibrary.org/obo/GARD_0000081 EquivalentTo 'X-linked intellectual disability-hypotonic face syndrome'
http://purl.obolibrary.org/obo/MONDO_0010662
paraplegia-intellectual disability-hyperkeratosis syndrome
http://purl.obolibrary.org/obo/GARD_0002344 EquivalentTo 'paraplegia-intellectual disability-hyperkeratosis syndrome'
http://purl.obolibrary.org/obo/MONDO_0010664
syndromic X-linked intellectual disability Snyder type
http://purl.obolibrary.org/obo/GARD_0005615 EquivalentTo 'syndromic X-linked intellectual disability Snyder type'
http://purl.obolibrary.org/obo/MONDO_0009683
autosomal recessive limb-girdle muscular dystrophy type 2H
http://purl.obolibrary.org/obo/GARD_0003844 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2H'
http://purl.obolibrary.org/obo/MONDO_0009692
primary myelofibrosis
http://purl.obolibrary.org/obo/GARD_0008618 EquivalentTo 'primary myelofibrosis'
http://purl.obolibrary.org/obo/MONDO_0010674
mucopolysaccharidosis type 2
http://purl.obolibrary.org/obo/GARD_0006675 EquivalentTo 'mucopolysaccharidosis type 2'
http://purl.obolibrary.org/obo/MONDO_0019005
nephronophthisis (disease)
http://purl.obolibrary.org/obo/GARD_0000206 EquivalentTo 'nephronophthisis (disease)'
http://purl.obolibrary.org/obo/MONDO_0019000
perineural cyst
'perineural cyst' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001858
http://purl.obolibrary.org/obo/GARD_0009258 EquivalentTo 'perineural cyst'
http://purl.obolibrary.org/obo/MONDO_0019002
Lhermitte-Duclos disease
http://purl.obolibrary.org/obo/GARD_0006901 EquivalentTo 'Lhermitte-Duclos disease'
http://purl.obolibrary.org/obo/MONDO_0019020
PANDAS
http://purl.obolibrary.org/obo/GARD_0007312 EquivalentTo 'PANDAS'
http://purl.obolibrary.org/obo/MONDO_0010689
Charcot-Marie-tooth disease X-linked recessive 4
http://purl.obolibrary.org/obo/GARD_0001240 EquivalentTo 'Charcot-Marie-tooth disease X-linked recessive 4'
http://purl.obolibrary.org/obo/MONDO_0009698
Unverricht-Lundborg syndrome
http://purl.obolibrary.org/obo/GARD_0003876 EquivalentTo 'Unverricht-Lundborg syndrome'
http://purl.obolibrary.org/obo/MONDO_0009696
juvenile myoclonic epilepsy
'juvenile myoclonic epilepsy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0006572
http://purl.obolibrary.org/obo/MONDO_0009693
plasma cell myeloma
http://purl.obolibrary.org/obo/GARD_0007108 EquivalentTo 'plasma cell myeloma'
http://purl.obolibrary.org/obo/MONDO_0010680
X-linked Emery-Dreifuss muscular dystrophy
http://purl.obolibrary.org/obo/GARD_0002102 EquivalentTo 'X-linked Emery-Dreifuss muscular dystrophy'
http://purl.obolibrary.org/obo/MONDO_0010683
X-linked centronuclear myopathy
http://purl.obolibrary.org/obo/GARD_0011925 EquivalentTo 'X-linked centronuclear myopathy'
http://purl.obolibrary.org/obo/MONDO_0010685
MYP1
http://purl.obolibrary.org/obo/MESH_C564091 EquivalentTo 'MYP1'
http://purl.obolibrary.org/obo/MONDO_0019018
Tako-tsubo cardiomyopathy
http://purl.obolibrary.org/obo/GARD_0009400 EquivalentTo 'Tako-tsubo cardiomyopathy'
'Tako-tsubo cardiomyopathy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1002000
http://purl.obolibrary.org/obo/MONDO_0019014
mutilating palmoplantar keratoderma with periorificial keratotic plaques
http://purl.obolibrary.org/obo/GARD_0004075 EquivalentTo 'mutilating palmoplantar keratoderma with periorificial keratotic plaques'
http://purl.obolibrary.org/obo/MONDO_0019011
Charcot-Marie-tooth disease type 1
http://purl.obolibrary.org/obo/GARD_0012433 EquivalentTo 'Charcot-Marie-tooth disease type 1'
http://purl.obolibrary.org/obo/MONDO_0019010
congenital isolated hyperinsulinism
http://purl.obolibrary.org/obo/GARD_0003947 EquivalentTo 'congenital isolated hyperinsulinism'
http://purl.obolibrary.org/obo/MONDO_0019012
Carpenter syndrome
'Carpenter syndrome' SubClassOf 'acrocephalosyndactyly'
'Carpenter syndrome' SubClassOf 'acrocephalopolysyndactyly'
'Carpenter syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/GARD_0006003 EquivalentTo 'Carpenter syndrome'
http://purl.obolibrary.org/obo/MONDO_0010699
Charcot-Marie-tooth disease X-linked recessive 5
http://purl.obolibrary.org/obo/GARD_0000114 EquivalentTo 'Charcot-Marie-tooth disease X-linked recessive 5'
http://purl.obolibrary.org/obo/MONDO_0010691
Norrie disease
'Norrie disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C118634
http://purl.obolibrary.org/obo/MONDO_0010698
early-onset X-linked optic atrophy
'early-onset X-linked optic atrophy' SubClassOf 'optic atrophy'
'early-onset X-linked optic atrophy' SubClassOf 'inherited neurodegenerative disorder'
'early-onset X-linked optic atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043878
http://purl.obolibrary.org/obo/GARD_0010199 EquivalentTo 'early-onset X-linked optic atrophy'
http://purl.obolibrary.org/obo/MONDO_0019026
autosomal recessive malignant osteopetrosis
'autosomal recessive malignant osteopetrosis' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0019027
otopalatodigital syndrome
http://purl.obolibrary.org/obo/GARD_0007293 EquivalentTo 'otopalatodigital syndrome'
'otopalatodigital syndrome' SubClassOf 'malformation syndrome with odontal and/or periodontal component'
http://purl.obolibrary.org/obo/MONDO_0019024
mast cell sarcoma
http://purl.obolibrary.org/obo/MESH_D012515 EquivalentTo 'mast cell sarcoma'
http://purl.obolibrary.org/obo/MONDO_0019023
cutaneous mastocytosis
http://purl.obolibrary.org/obo/GARD_0007842 EquivalentTo 'cutaneous mastocytosis'
'cutaneous mastocytosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000886
http://purl.obolibrary.org/obo/MONDO_0020034
rare respiratory tumor
'rare respiratory tumor' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3355
http://purl.obolibrary.org/obo/MONDO_0019037
progressive supranuclear palsy
http://purl.obolibrary.org/obo/GARD_0007471 EquivalentTo 'progressive supranuclear palsy'
http://purl.obolibrary.org/obo/MONDO_0019035
pancreatoblastoma
'pancreatoblastoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000446
http://purl.obolibrary.org/obo/MONDO_0020022
central nervous system malformation
http://purl.obolibrary.org/obo/MESH_D009421 EquivalentTo 'central nervous system malformation'
http://purl.obolibrary.org/obo/MONDO_0019047
rare deafness
'rare deafness' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C36194
http://purl.obolibrary.org/obo/MONDO_0020050
autosomal trisomy
http://purl.obolibrary.org/obo/GARD_0006065 EquivalentTo 'autosomal trisomy'
'autosomal trisomy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3421
http://purl.obolibrary.org/obo/MONDO_0019060
bone neoplasm
http://purl.obolibrary.org/obo/GARD_0013223 EquivalentTo 'bone neoplasm'
http://purl.obolibrary.org/obo/MONDO_0019056
neuromuscular disease
'neuromuscular disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001902
http://purl.obolibrary.org/obo/MONDO_0020040
46,XY disorder of sex development
http://purl.obolibrary.org/obo/GARD_0008538 EquivalentTo '46,XY disorder of sex development'
http://purl.obolibrary.org/obo/MONDO_0019073
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
http://purl.obolibrary.org/obo/GARD_0002492 EquivalentTo 'hypotrichosis-lymphedema-telangiectasia-renal defect syndrome'
http://purl.obolibrary.org/obo/MONDO_0019072
intrahepatic cholestasis
http://purl.obolibrary.org/obo/GARD_0009804 EquivalentTo 'intrahepatic cholestasis'
http://purl.obolibrary.org/obo/MONDO_0019075
Bosley-Salih-Alorainy syndrome
'Bosley-Salih-Alorainy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0020048
internal carotid agenesis
'internal carotid agenesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0019065
amyloidosis (disease)
'amyloidosis (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001875
http://purl.obolibrary.org/obo/MONDO_0019086
carcinoma of esophagus
'carcinoma of esophagus' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0002916
http://purl.obolibrary.org/obo/MONDO_0019082
bullous pemphigoid
http://purl.obolibrary.org/obo/GARD_0005972 EquivalentTo 'bullous pemphigoid'
http://purl.obolibrary.org/obo/MESH_D010391 EquivalentTo 'bullous pemphigoid'
http://purl.obolibrary.org/obo/MONDO_0020078
acute myeloid leukemia with recurrent genetic anomaly
'acute myeloid leukemia with recurrent genetic anomaly' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C7175
http://purl.obolibrary.org/obo/MONDO_0020077
myelodysplastic/myeloproliferative disease
http://purl.obolibrary.org/obo/GARD_0009351 EquivalentTo 'myelodysplastic/myeloproliferative disease'
http://purl.obolibrary.org/obo/MONDO_0020076
myeloproliferative neoplasm
http://purl.obolibrary.org/obo/GARD_0009319 EquivalentTo 'myeloproliferative neoplasm'
http://purl.obolibrary.org/obo/MONDO_0020074
progressive myoclonic epilepsy
http://purl.obolibrary.org/obo/GARD_0007140 EquivalentTo 'progressive myoclonic epilepsy'
http://purl.obolibrary.org/obo/MONDO_0019079
proximal spinal muscular atrophy
'proximal spinal muscular atrophy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008929
http://purl.obolibrary.org/obo/MONDO_0019078
Ritscher-Schinzel syndrome
http://purl.obolibrary.org/obo/MESH_C535313 EquivalentTo 'Ritscher-Schinzel syndrome'
'Ritscher-Schinzel syndrome' SubClassOf 'disease has feature' some 'Dandy-Walker syndrome'
http://purl.obolibrary.org/obo/MONDO_0019095
plague
'plague' SubClassOf 'yersinia pseudotuberculosis infectious disease'
'plague' EquivalentTo http://purl.obolibrary.org/obo/SCTID_83436008
'plague' EquivalentTo http://purl.obolibrary.org/obo/SCTID_58750007
'plague' EquivalentTo 'infectious disease' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_632)
'plague' SubClassOf 'realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_632
'plague' SubClassOf 'yersinia infectious disease'
http://purl.obolibrary.org/obo/MONDO_0019093
immunodeficiency due to selective anti-polysaccharide antibody deficiency
http://purl.obolibrary.org/obo/GARD_0011903 EquivalentTo 'immunodeficiency due to selective anti-polysaccharide antibody deficiency'
http://purl.obolibrary.org/obo/MONDO_0019092
infantile apnea
http://purl.obolibrary.org/obo/GARD_0006779 EquivalentTo 'infantile apnea'
http://purl.obolibrary.org/obo/MONDO_0020066
Ehlers-Danlos syndrome
http://purl.obolibrary.org/obo/GARD_0006322 EquivalentTo 'Ehlers-Danlos syndrome'
http://purl.obolibrary.org/obo/MONDO_0020064
pulmonary valve agenesis
http://purl.obolibrary.org/obo/GARD_0004597 EquivalentTo 'pulmonary valve agenesis'
http://purl.obolibrary.org/obo/MONDO_0019088
post-transplant lymphoproliferative disease
'post-transplant lymphoproliferative disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254290004
http://purl.obolibrary.org/obo/MONDO_0019087
cholangiocarcinoma
'cholangiocarcinoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_312104005
http://purl.obolibrary.org/obo/GARD_0009304 EquivalentTo 'cholangiocarcinoma'
http://purl.obolibrary.org/obo/MONDO_0019089
adult acute respiratory distress syndrome
'adult acute respiratory distress syndrome' SubClassOf 'primary interstitial lung disease specific to adulthood'
'adult acute respiratory distress syndrome' SubClassOf 'acute respiratory distress syndrome'
'adult acute respiratory distress syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_70578
'adult acute respiratory distress syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/HP_0003581
'adult acute respiratory distress syndrome' EquivalentTo 'acute respiratory distress syndrome' and ('has modifier' some http://purl.obolibrary.org/obo/HP_0003581)
http://purl.obolibrary.org/obo/MONDO_0019098
autoimmune thrombocytopenia
'autoimmune thrombocytopenia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_128091003
http://purl.obolibrary.org/obo/MONDO_0020088
familial partial lipodystrophy
http://purl.obolibrary.org/obo/GARD_0011962 EquivalentTo 'familial partial lipodystrophy'
http://purl.obolibrary.org/obo/MONDO_0009508
Lambotte syndrome
http://purl.obolibrary.org/obo/GARD_0008470 EquivalentTo 'Lambotte syndrome'
http://purl.obolibrary.org/obo/MONDO_0009506
recurrent infection due to specific granule deficiency
http://purl.obolibrary.org/obo/GARD_0010778 EquivalentTo 'recurrent infection due to specific granule deficiency'
http://purl.obolibrary.org/obo/MONDO_0009504
mitochondrial DNA depletion syndrome 9
'mitochondrial DNA depletion syndrome 9' EquivalentTo http://purl.obolibrary.org/obo/SCTID_715338007
http://purl.obolibrary.org/obo/MONDO_0009517
Donohue syndrome
'Donohue syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/GARD_0006885 EquivalentTo 'Donohue syndrome'
'Donohue syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0009515
Norum disease
http://purl.obolibrary.org/obo/GARD_0004011 EquivalentTo 'Norum disease'
http://purl.obolibrary.org/obo/MONDO_0009513
laryngo-onycho-cutaneous syndrome
http://purl.obolibrary.org/obo/GARD_0000368 EquivalentTo 'laryngo-onycho-cutaneous syndrome'
http://purl.obolibrary.org/obo/MONDO_0009512
lethal larsen-like syndrome
http://purl.obolibrary.org/obo/GARD_0003181 EquivalentTo 'lethal larsen-like syndrome'
http://purl.obolibrary.org/obo/MONDO_0010505
intellectual disability-balding-patella luxation-acromicria syndrome
http://purl.obolibrary.org/obo/GARD_0000257 EquivalentTo 'intellectual disability-balding-patella luxation-acromicria syndrome'
http://purl.obolibrary.org/obo/MESH_C536638 EquivalentTo 'intellectual disability-balding-patella luxation-acromicria syndrome'
http://purl.obolibrary.org/obo/MONDO_0009529
pyruvate dehydrogenase E3 deficiency
http://purl.obolibrary.org/obo/GARD_0003263 EquivalentTo 'pyruvate dehydrogenase E3 deficiency'
http://purl.obolibrary.org/obo/MONDO_0009526
fibular aplasia, tibial Campomelia, and Oligosyndactyly syndrome
http://purl.obolibrary.org/obo/GARD_0002622 EquivalentTo 'fibular aplasia, tibial Campomelia, and Oligosyndactyly syndrome'
http://purl.obolibrary.org/obo/MONDO_0009525
split hand-foot malformation 3
'split hand-foot malformation 3' SubClassOf 'partial duplication of the long arm of chromosome X'
'split hand-foot malformation 3' SubClassOf 'obsolete partial duplication of the long arm of chromosome 10'
'split hand-foot malformation 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0009524
intellectual disability-spasticity-ectrodactyly syndrome
'intellectual disability-spasticity-ectrodactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
'intellectual disability-spasticity-ectrodactyly syndrome' SubClassOf 'syndrome with limb reduction defects'
'intellectual disability-spasticity-ectrodactyly syndrome' SubClassOf 'dysostosis of genetic origin with limb anomaly as a major feature'
http://purl.obolibrary.org/obo/MONDO_0009520
3-hydroxy-3-methylglutaric aciduria
'3-hydroxy-3-methylglutaric aciduria' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84523
http://purl.obolibrary.org/obo/GARD_0008387 EquivalentTo '3-hydroxy-3-methylglutaric aciduria'
http://purl.obolibrary.org/obo/MONDO_0010524
X-linked sideroblastic anemia with ataxia
http://purl.obolibrary.org/obo/GARD_0000668 EquivalentTo 'X-linked sideroblastic anemia with ataxia'
http://purl.obolibrary.org/obo/MONDO_0010526
Fabry disease
http://purl.obolibrary.org/obo/GARD_0006400 EquivalentTo 'Fabry disease'
http://purl.obolibrary.org/obo/MONDO_0009533
Dahlberg-borer-Newcomer syndrome
'Dahlberg-borer-Newcomer syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0009532
Miller-Dieker lissencephaly syndrome
http://purl.obolibrary.org/obo/GARD_0003669 EquivalentTo 'Miller-Dieker lissencephaly syndrome'
http://purl.obolibrary.org/obo/MONDO_0009530
lipoid proteinosis
http://purl.obolibrary.org/obo/GARD_0003268 EquivalentTo 'lipoid proteinosis'
http://purl.obolibrary.org/obo/MONDO_0010520
X-linked Alport syndrome
http://purl.obolibrary.org/obo/GARD_0005785 EquivalentTo 'X-linked Alport syndrome'
http://purl.obolibrary.org/obo/MONDO_0010522
X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2
http://purl.obolibrary.org/obo/GARD_0009944 EquivalentTo 'X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2'
http://purl.obolibrary.org/obo/MONDO_0009547
macrosomia-microphthalmia-cleft palate syndrome
'macrosomia-microphthalmia-cleft palate syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0000177 EquivalentTo 'macrosomia-microphthalmia-cleft palate syndrome'
http://purl.obolibrary.org/obo/MONDO_0010535
Bazex-DuprC)-Christol syndrome
http://purl.obolibrary.org/obo/GARD_0000838 EquivalentTo 'Bazex-DuprC)-Christol syndrome'
http://purl.obolibrary.org/obo/MONDO_0010537
Borjeson-Forssman-Lehmann syndrome
'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'monogenic disease with epilepsy'
http://purl.obolibrary.org/obo/MONDO_0009544
macrocephaly/megalencephaly syndrome, autosomal recessive
http://purl.obolibrary.org/obo/MESH_C537453 EquivalentTo 'macrocephaly/megalencephaly syndrome, autosomal recessive'
http://purl.obolibrary.org/obo/GARD_0000148 EquivalentTo 'macrocephaly/megalencephaly syndrome, autosomal recessive'
http://purl.obolibrary.org/obo/MONDO_0010539
X-linked mandibulofacial dysostosis
http://purl.obolibrary.org/obo/GARD_0001002 EquivalentTo 'X-linked mandibulofacial dysostosis'
http://purl.obolibrary.org/obo/MONDO_0010531
contractures-ectodermal dysplasia-cleft lip/palate syndrome
http://purl.obolibrary.org/obo/GARD_0001515 EquivalentTo 'contractures-ectodermal dysplasia-cleft lip/palate syndrome'
http://purl.obolibrary.org/obo/MONDO_0010530
anus, imperforate
http://purl.obolibrary.org/obo/GARD_0006769 EquivalentTo 'anus, imperforate'
http://purl.obolibrary.org/obo/MONDO_0010532
infantile-onset X-linked spinal muscular atrophy
http://purl.obolibrary.org/obo/GARD_0008521 EquivalentTo 'infantile-onset X-linked spinal muscular atrophy'
http://purl.obolibrary.org/obo/MONDO_0009556
malonic aciduria
http://purl.obolibrary.org/obo/GARD_0003371 EquivalentTo 'malonic aciduria'
http://purl.obolibrary.org/obo/MONDO_0010545
Nance-Horan syndrome
'Nance-Horan syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'Nance-Horan syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0010548
spinocerebellar ataxia, X-linked 2
http://purl.obolibrary.org/obo/GARD_0009978 EquivalentTo 'spinocerebellar ataxia, X-linked 2'
http://purl.obolibrary.org/obo/MONDO_0010549
Charcot-Marie-tooth disease X-linked dominant 1
http://purl.obolibrary.org/obo/GARD_0001258 EquivalentTo 'Charcot-Marie-tooth disease X-linked dominant 1'
http://purl.obolibrary.org/obo/MONDO_0009552
mal de Meleda
http://purl.obolibrary.org/obo/GARD_0000092 EquivalentTo 'mal de Meleda'
http://purl.obolibrary.org/obo/MONDO_0009560
oculotrichoanal syndrome
'oculotrichoanal syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/GARD_0003395 EquivalentTo 'oculotrichoanal syndrome'
'oculotrichoanal syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0010541
X-linked calvarial hyperostosis
http://purl.obolibrary.org/obo/GARD_0001058 EquivalentTo 'X-linked calvarial hyperostosis'
http://purl.obolibrary.org/obo/MONDO_0010544
cataract 40
http://purl.obolibrary.org/obo/GARD_0008278 EquivalentTo 'cataract 40'
http://purl.obolibrary.org/obo/MONDO_0009569
Hennekam-Beemer syndrome
'Hennekam-Beemer syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'Hennekam-Beemer syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MESH_C536033 EquivalentTo 'Hennekam-Beemer syndrome'
http://purl.obolibrary.org/obo/MONDO_0010556
X-linked chondrodysplasia punctata
'X-linked chondrodysplasia punctata' SubClassOf 'rare genetic developmental defect during embryogenesis'
'X-linked chondrodysplasia punctata' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0009567
Marinesco-Sjogren syndrome
http://purl.obolibrary.org/obo/GARD_0008341 EquivalentTo 'Marinesco-Sjogren syndrome'
http://purl.obolibrary.org/obo/MONDO_0010559
MASA syndrome
http://purl.obolibrary.org/obo/GARD_0006986 EquivalentTo 'MASA syndrome'
http://purl.obolibrary.org/obo/MONDO_0009566
marfanoid habitus-autosomal recessive intellectual disability syndrome
http://purl.obolibrary.org/obo/GARD_0003388 EquivalentTo 'marfanoid habitus-autosomal recessive intellectual disability syndrome'
http://purl.obolibrary.org/obo/MONDO_0010558
choroideremia-deafness-obesity syndrome
http://purl.obolibrary.org/obo/GARD_0000369 EquivalentTo 'choroideremia-deafness-obesity syndrome'
http://purl.obolibrary.org/obo/MONDO_0009564
Marden-Walker syndrome
http://purl.obolibrary.org/obo/GARD_0006973 EquivalentTo 'Marden-Walker syndrome'
http://purl.obolibrary.org/obo/MONDO_0009563
maple syrup urine disease
http://purl.obolibrary.org/obo/GARD_0003228 EquivalentTo 'maple syrup urine disease'
http://purl.obolibrary.org/obo/MONDO_0009562
beta-mannosidosis
http://purl.obolibrary.org/obo/GARD_0000869 EquivalentTo 'beta-mannosidosis'
http://purl.obolibrary.org/obo/MONDO_0010551
Charcot-Marie-tooth disease X-linked recessive 3
http://purl.obolibrary.org/obo/GARD_0001244 EquivalentTo 'Charcot-Marie-tooth disease X-linked recessive 3'
http://purl.obolibrary.org/obo/MONDO_0010550
Charcot-Marie-tooth disease X-linked recessive 2
http://purl.obolibrary.org/obo/GARD_0001243 EquivalentTo 'Charcot-Marie-tooth disease X-linked recessive 2'
http://purl.obolibrary.org/obo/MONDO_0010554
Abruzzo-Erickson syndrome
'Abruzzo-Erickson syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0009578
neurocutaneous melanocytosis
http://purl.obolibrary.org/obo/GARD_0007186 EquivalentTo 'neurocutaneous melanocytosis'
'neurocutaneous melanocytosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042983
http://purl.obolibrary.org/obo/MONDO_0010569
X-linked complicated corpus callosum dysgenesis
http://purl.obolibrary.org/obo/GARD_0012526 EquivalentTo 'X-linked complicated corpus callosum dysgenesis'
http://purl.obolibrary.org/obo/MONDO_0009582
Mietens syndrome
'Mietens syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/GARD_0003524 EquivalentTo 'Mietens syndrome'
'Mietens syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0010562
colonic atresia (disease)
'colonic atresia (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C101024
http://purl.obolibrary.org/obo/GARD_0001446 EquivalentTo 'colonic atresia (disease)'
http://purl.obolibrary.org/obo/MONDO_0010566
X-linked cone-rod dystrophy 1
http://purl.obolibrary.org/obo/MESH_C564438 EquivalentTo 'X-linked cone-rod dystrophy 1'
http://purl.obolibrary.org/obo/MONDO_0010578
deafness dystonia syndrome
http://purl.obolibrary.org/obo/GARD_0008331 EquivalentTo 'deafness dystonia syndrome'
http://purl.obolibrary.org/obo/MONDO_0009589
mesomelic dwarfism-cleft palate-camptodactyly syndrome
'mesomelic dwarfism-cleft palate-camptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MESH_C565404 EquivalentTo 'mesomelic dwarfism-cleft palate-camptodactyly syndrome'
http://purl.obolibrary.org/obo/MONDO_0009585
encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
http://purl.obolibrary.org/obo/GARD_0000654 EquivalentTo 'encephalopathy due to beta-mercaptolactate-cysteine disulfiduria'
http://purl.obolibrary.org/obo/MONDO_0010571
otopalatodigital syndrome type 2
http://purl.obolibrary.org/obo/GARD_0005802 EquivalentTo 'otopalatodigital syndrome type 2'
http://purl.obolibrary.org/obo/MONDO_0010570
craniofrontonasal syndrome
http://purl.obolibrary.org/obo/GARD_0001578 EquivalentTo 'craniofrontonasal syndrome'
http://purl.obolibrary.org/obo/MONDO_0010573
cutis verticis gyrata, thyroid aplasia, and mental retardation
http://purl.obolibrary.org/obo/GARD_0000578 EquivalentTo 'cutis verticis gyrata, thyroid aplasia, and mental retardation'
http://purl.obolibrary.org/obo/MONDO_0009591
metachromatic leukodystrophy, juvenile form
http://purl.obolibrary.org/obo/GARD_0003230 EquivalentTo 'metachromatic leukodystrophy, juvenile form'
http://purl.obolibrary.org/obo/GARD_0004545 EquivalentTo 'metachromatic leukodystrophy, juvenile form'
http://purl.obolibrary.org/obo/MONDO_0010572
occipital horn syndrome
http://purl.obolibrary.org/obo/GARD_0004017 EquivalentTo 'occipital horn syndrome'
'occipital horn syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0010574
syndromic X-linked intellectual disability 5
http://purl.obolibrary.org/obo/GARD_0008520 EquivalentTo 'syndromic X-linked intellectual disability 5'
http://purl.obolibrary.org/obo/MONDO_0010576
X-linked mixed deafness with perilymphatic gusher
http://purl.obolibrary.org/obo/GARD_0001694 EquivalentTo 'X-linked mixed deafness with perilymphatic gusher'
http://purl.obolibrary.org/obo/GARD_0004504 EquivalentTo 'X-linked mixed deafness with perilymphatic gusher'
http://purl.obolibrary.org/obo/MONDO_0010589
Aarskog-Scott syndrome, X-linked
'Aarskog-Scott syndrome, X-linked' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome'
'Aarskog-Scott syndrome, X-linked' SubClassOf 'syndromic urogenital tract malformation'
'Aarskog-Scott syndrome, X-linked' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
'Aarskog-Scott syndrome, X-linked' SubClassOf 'malformation syndrome with short stature'
'Aarskog-Scott syndrome, X-linked' SubClassOf 'X-linked syndromic intellectual disability'
'Aarskog-Scott syndrome, X-linked' EquivalentTo http://www.orpha.net/ORDO/Orphanet_915
'Aarskog-Scott syndrome, X-linked' SubClassOf 'X-linked disease'
http://purl.obolibrary.org/obo/MESH_C535331 EquivalentTo 'Aarskog-Scott syndrome, X-linked'
http://purl.obolibrary.org/obo/GARD_0004775 EquivalentTo 'Aarskog-Scott syndrome, X-linked'
http://purl.obolibrary.org/obo/MONDO_0009599
metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
'metaphyseal dysostosis-intellectual disability-conductive deafness syndrome' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0009597
metaphyseal chondrodysplasia, Spahr type
http://purl.obolibrary.org/obo/GARD_0003563 EquivalentTo 'metaphyseal chondrodysplasia, Spahr type'
http://purl.obolibrary.org/obo/MONDO_0009595
cartilage-hair hypoplasia
'cartilage-hair hypoplasia' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0010585
X-linked hypohidrotic ectodermal dysplasia
http://purl.obolibrary.org/obo/GARD_0010427 EquivalentTo 'X-linked hypohidrotic ectodermal dysplasia'
http://purl.obolibrary.org/obo/MONDO_0010580
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
http://purl.obolibrary.org/obo/GARD_0001850 EquivalentTo 'immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome'
http://purl.obolibrary.org/obo/MONDO_0010592
focal dermal hypoplasia
'focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/GARD_0006457 EquivalentTo 'focal dermal hypoplasia'
http://purl.obolibrary.org/obo/MONDO_0010595
Sertoli cell-only syndrome
'Sertoli cell-only syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001422
http://purl.obolibrary.org/obo/MONDO_0009406
hypertrichotic osteochondrodysplasia Cantu type
'hypertrichotic osteochondrodysplasia Cantu type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0009404
hypertelorism, microtia, facial clefting syndrome
http://purl.obolibrary.org/obo/GARD_0000897 EquivalentTo 'hypertelorism, microtia, facial clefting syndrome'
http://purl.obolibrary.org/obo/MONDO_0009402
hypertelorism-hypospadias-polysyndactyly syndrome
'hypertelorism-hypospadias-polysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0000287 EquivalentTo 'hypertelorism-hypospadias-polysyndactyly syndrome'
http://purl.obolibrary.org/obo/MONDO_0009417
hypergonadotropic hypogonadism-cataract syndrome
http://purl.obolibrary.org/obo/GARD_0000298 EquivalentTo 'hypergonadotropic hypogonadism-cataract syndrome'
http://purl.obolibrary.org/obo/MONDO_0009415
hypoglycemia, leucine-induced
http://purl.obolibrary.org/obo/GARD_0009915 EquivalentTo 'hypoglycemia, leucine-induced'
http://purl.obolibrary.org/obo/MONDO_0010403
albinism-deafness syndrome
'albinism-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043209
'albinism-deafness syndrome' SubClassOf 'rare genetic skin disease'
'albinism-deafness syndrome' SubClassOf 'developmental anomaly of metabolic origin'
http://purl.obolibrary.org/obo/MONDO_0009414
glycogen storage disease due to hepatic glycogen synthase deficiency
http://purl.obolibrary.org/obo/GARD_0002889 EquivalentTo 'glycogen storage disease due to hepatic glycogen synthase deficiency'
http://purl.obolibrary.org/obo/GARD_0002513 EquivalentTo 'glycogen storage disease due to hepatic glycogen synthase deficiency'
http://purl.obolibrary.org/obo/MONDO_0010405
HPCX2
http://purl.obolibrary.org/obo/MESH_C567477 EquivalentTo 'HPCX2'
http://purl.obolibrary.org/obo/MONDO_0009411
autoimmune polyendocrine syndrome type 1
http://purl.obolibrary.org/obo/GARD_0008466 EquivalentTo 'autoimmune polyendocrine syndrome type 1'
http://purl.obolibrary.org/obo/GARD_0005558 EquivalentTo 'autoimmune polyendocrine syndrome type 1'
http://purl.obolibrary.org/obo/MONDO_0009410
Addison disease
http://purl.obolibrary.org/obo/GARD_0005740 EquivalentTo 'Addison disease'
http://purl.obolibrary.org/obo/MONDO_0010408
syndactyly-telecanthus-anogenital and renal malformations syndrome
http://purl.obolibrary.org/obo/GARD_0010295 EquivalentTo 'syndactyly-telecanthus-anogenital and renal malformations syndrome'
'syndactyly-telecanthus-anogenital and renal malformations syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0009426
hypoparathyroidism-retardation-dysmorphism syndrome
http://purl.obolibrary.org/obo/GARD_0000411 EquivalentTo 'hypoparathyroidism-retardation-dysmorphism syndrome'
http://purl.obolibrary.org/obo/MONDO_0009425
Hypomandibular faciocranial dysostosis
'Hypomandibular faciocranial dysostosis' SubClassOf 'rare genetic developmental defect during embryogenesis'
'Hypomandibular faciocranial dysostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0010413
MRX95
http://purl.obolibrary.org/obo/MESH_C567470 EquivalentTo 'MRX95'
http://purl.obolibrary.org/obo/MONDO_0009424
Bartter disease type 2
http://purl.obolibrary.org/obo/GARD_0009658 EquivalentTo 'Bartter disease type 2'
http://purl.obolibrary.org/obo/MONDO_0010417
syndromic X-linked intellectual disability Najm type
http://purl.obolibrary.org/obo/GARD_0012669 EquivalentTo 'syndromic X-linked intellectual disability Najm type'
http://purl.obolibrary.org/obo/MONDO_0009420
primary hypergonadotropic hypogonadism-partial alopecia syndrome
http://purl.obolibrary.org/obo/MESH_C567109 EquivalentTo 'primary hypergonadotropic hypogonadism-partial alopecia syndrome'
http://purl.obolibrary.org/obo/MONDO_0010419
X-linked sideroblastic anemia
http://purl.obolibrary.org/obo/GARD_0009456 EquivalentTo 'X-linked sideroblastic anemia'
http://purl.obolibrary.org/obo/MONDO_0010410
AGA2
http://purl.obolibrary.org/obo/MESH_C567473 EquivalentTo 'AGA2'
http://purl.obolibrary.org/obo/MONDO_0010411
IHPS4
http://purl.obolibrary.org/obo/MESH_C567472 EquivalentTo 'IHPS4'
http://purl.obolibrary.org/obo/MONDO_0009439
autosomal recessive congenital ichthyosis 2
http://purl.obolibrary.org/obo/GARD_0009736 EquivalentTo 'autosomal recessive congenital ichthyosis 2'
http://purl.obolibrary.org/obo/MONDO_0009437
Bamforth-Lazarus syndrome
http://purl.obolibrary.org/obo/GARD_0000414 EquivalentTo 'Bamforth-Lazarus syndrome'
'Bamforth-Lazarus syndrome' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0010428
chromosome Xp11.23-p11.22 duplication syndrome
'chromosome Xp11.23-p11.22 duplication syndrome' SubClassOf 'chromosomal anomaly with epilepsy as a major feature'
http://purl.obolibrary.org/obo/GARD_0012766 EquivalentTo 'chromosome Xp11.23-p11.22 duplication syndrome'
http://purl.obolibrary.org/obo/MONDO_0010421
Bruton-type agammaglobulinemia
http://purl.obolibrary.org/obo/GARD_0001033 EquivalentTo 'Bruton-type agammaglobulinemia'
http://purl.obolibrary.org/obo/MONDO_0010422
Alzheimer disease 16
http://purl.obolibrary.org/obo/MESH_C567463 EquivalentTo 'Alzheimer disease 16'
http://purl.obolibrary.org/obo/MONDO_0009449
ciliary dyskinesia with defective radial spokes
http://purl.obolibrary.org/obo/GARD_0002981 EquivalentTo 'ciliary dyskinesia with defective radial spokes'
http://purl.obolibrary.org/obo/MONDO_0009446
ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
http://purl.obolibrary.org/obo/GARD_0004641 EquivalentTo 'ichthyosis-intellectual disability-dwarfism-renal impairment syndrome'
http://purl.obolibrary.org/obo/MONDO_0009445
ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
http://purl.obolibrary.org/obo/GARD_0001993 EquivalentTo 'ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome'
http://purl.obolibrary.org/obo/MONDO_0009444
ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
http://purl.obolibrary.org/obo/GARD_0000292 EquivalentTo 'ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome'
http://purl.obolibrary.org/obo/MONDO_0009443
autosomal recessive congenital ichthyosis 4B
http://purl.obolibrary.org/obo/GARD_0006568 EquivalentTo 'autosomal recessive congenital ichthyosis 4B'
http://purl.obolibrary.org/obo/MONDO_0009440
ichthyosiform erythroderma, corneal involvement, and deafness
http://purl.obolibrary.org/obo/GARD_0002946 EquivalentTo 'ichthyosiform erythroderma, corneal involvement, and deafness'
http://purl.obolibrary.org/obo/MONDO_0010434
synovial sarcoma (disease)
http://purl.obolibrary.org/obo/GARD_0007721 EquivalentTo 'synovial sarcoma (disease)'
http://purl.obolibrary.org/obo/MONDO_0009459
channelopathy-associated congenital insensitivity to pain
http://purl.obolibrary.org/obo/GARD_0012267 EquivalentTo 'channelopathy-associated congenital insensitivity to pain'
http://purl.obolibrary.org/obo/MONDO_0009458
Schimke immuno-osseous dysplasia
http://purl.obolibrary.org/obo/GARD_0004984 EquivalentTo 'Schimke immuno-osseous dysplasia'
http://purl.obolibrary.org/obo/MONDO_0010448
Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
'Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0009452
Vici syndrome
'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
'Vici syndrome' SubClassOf 'rare genetic skin disease'
http://purl.obolibrary.org/obo/MONDO_0009451
Nezelof syndrome
http://purl.obolibrary.org/obo/GARD_0007201 EquivalentTo 'Nezelof syndrome'
http://purl.obolibrary.org/obo/MONDO_0009461
male infertility due to large-headed multiflagellar polyploid spermatozoa
http://purl.obolibrary.org/obo/GARD_0012385 EquivalentTo 'male infertility due to large-headed multiflagellar polyploid spermatozoa'
http://purl.obolibrary.org/obo/MONDO_0010457
Ogden syndrome
'Ogden syndrome' SubClassOf 'disease disrupting molecular activity'
http://purl.obolibrary.org/obo/MESH_C536107 EquivalentTo 'Ogden syndrome'
http://purl.obolibrary.org/obo/GARD_0000188 EquivalentTo 'Ogden syndrome'
'Ogden syndrome' SubClassOf 'disease caused by disruption of' some http://purl.obolibrary.org/obo/GO_0008080
http://purl.obolibrary.org/obo/MONDO_0009467
natal teeth-intestinal pseudoobstruction-patent ductus syndrome
http://purl.obolibrary.org/obo/GARD_0003928 EquivalentTo 'natal teeth-intestinal pseudoobstruction-patent ductus syndrome'
http://purl.obolibrary.org/obo/MONDO_0009466
neuronal intestinal pseudoobstruction
http://purl.obolibrary.org/obo/GARD_0003969 EquivalentTo 'neuronal intestinal pseudoobstruction'
http://purl.obolibrary.org/obo/MONDO_0010450
MRX89
http://purl.obolibrary.org/obo/MESH_C564036 EquivalentTo 'MRX89'
http://purl.obolibrary.org/obo/MONDO_0010453
MRX92
http://purl.obolibrary.org/obo/MESH_C564483 EquivalentTo 'MRX92'
http://purl.obolibrary.org/obo/MONDO_0010455
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
http://purl.obolibrary.org/obo/GARD_0010907 EquivalentTo 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia'
http://purl.obolibrary.org/obo/MONDO_0009479
Johanson-Blizzard syndrome
http://purl.obolibrary.org/obo/GARD_0000080 EquivalentTo 'Johanson-Blizzard syndrome'
http://purl.obolibrary.org/obo/MONDO_0010468
ANIB5
http://purl.obolibrary.org/obo/MESH_C563670 EquivalentTo 'ANIB5'
http://purl.obolibrary.org/obo/MONDO_0009476
atresia of small intestine
http://purl.obolibrary.org/obo/GARD_0000140 EquivalentTo 'atresia of small intestine'
http://purl.obolibrary.org/obo/GARD_0006799 EquivalentTo 'atresia of small intestine'
http://purl.obolibrary.org/obo/MONDO_0009473
isotretinoin-like syndrome
'isotretinoin-like syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'isotretinoin-like syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/GARD_0009675 EquivalentTo 'isotretinoin-like syndrome'
http://purl.obolibrary.org/obo/MONDO_0009482
hypogonadotropic hypogonadism 3 with or without anosmia
http://purl.obolibrary.org/obo/GARD_0003073 EquivalentTo 'hypogonadotropic hypogonadism 3 with or without anosmia'
http://purl.obolibrary.org/obo/MONDO_0009481
Jumping Frenchmen of Maine
http://purl.obolibrary.org/obo/GARD_0006803 EquivalentTo 'Jumping Frenchmen of Maine'
http://purl.obolibrary.org/obo/MONDO_0010466
multiple congenital anomalies-hypotonia-seizures syndrome 2
http://purl.obolibrary.org/obo/GARD_0012777 EquivalentTo 'multiple congenital anomalies-hypotonia-seizures syndrome 2'
http://purl.obolibrary.org/obo/MONDO_0010479
Charcot-Marie-tooth disease X-linked dominant 6
http://purl.obolibrary.org/obo/GARD_0012445 EquivalentTo 'Charcot-Marie-tooth disease X-linked dominant 6'
http://purl.obolibrary.org/obo/MONDO_0009489
hereditary palmoplantar keratoderma, Gamborg-Nielsen type
http://purl.obolibrary.org/obo/MESH_C565454 EquivalentTo 'hereditary palmoplantar keratoderma, Gamborg-Nielsen type'
http://purl.obolibrary.org/obo/MONDO_0009486
autosomal recessive Kenny-Caffey syndrome
'autosomal recessive Kenny-Caffey syndrome' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0009485
oculocerebrofacial syndrome, Kaufman type
http://purl.obolibrary.org/obo/GARD_0003084 EquivalentTo 'oculocerebrofacial syndrome, Kaufman type'
http://purl.obolibrary.org/obo/MESH_C537013 EquivalentTo 'oculocerebrofacial syndrome, Kaufman type'
http://purl.obolibrary.org/obo/MONDO_0010472
ALG13-CDG
http://purl.obolibrary.org/obo/GARD_0012401 EquivalentTo 'ALG13-CDG'
http://purl.obolibrary.org/obo/MONDO_0009493
Richards-Rundle syndrome
http://purl.obolibrary.org/obo/GARD_0008423 EquivalentTo 'Richards-Rundle syndrome'
http://purl.obolibrary.org/obo/MONDO_0009492
Succinyl-CoA:3-ketoacid CoA transferase deficiency
http://purl.obolibrary.org/obo/GARD_0004774 EquivalentTo 'Succinyl-CoA:3-ketoacid CoA transferase deficiency'
http://purl.obolibrary.org/obo/MONDO_0009490
Papillon-Lefevre disease
http://purl.obolibrary.org/obo/GARD_0003100 EquivalentTo 'Papillon-Lefevre disease'
http://purl.obolibrary.org/obo/MONDO_0010476
neurodegeneration with brain iron accumulation 5
http://purl.obolibrary.org/obo/GARD_0012570 EquivalentTo 'neurodegeneration with brain iron accumulation 5'
http://purl.obolibrary.org/obo/MONDO_0010475
X-linked central congenital hypothyroidism with late-onset testicular enlargement
'X-linked central congenital hypothyroidism with late-onset testicular enlargement' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C130989
http://purl.obolibrary.org/obo/MONDO_0009499
Krabbe disease
http://purl.obolibrary.org/obo/GARD_0006844 EquivalentTo 'Krabbe disease'
http://purl.obolibrary.org/obo/MONDO_0009496
Kniest-like dysplasia with Pursed lips and ectopia lentis
http://purl.obolibrary.org/obo/GARD_0010512 EquivalentTo 'Kniest-like dysplasia with Pursed lips and ectopia lentis'
http://purl.obolibrary.org/obo/MONDO_0009495
Keutel syndrome
'Keutel syndrome' SubClassOf 'chondrodysplasia punctata'
http://purl.obolibrary.org/obo/MONDO_0010497
intellectual disability, X-linked 102
http://purl.obolibrary.org/obo/GARD_0012715 EquivalentTo 'intellectual disability, X-linked 102'
http://purl.obolibrary.org/obo/MONDO_0010490
SSR4-CDG
http://purl.obolibrary.org/obo/GARD_0012405 EquivalentTo 'SSR4-CDG'
http://purl.obolibrary.org/obo/SCTID_239082002
'dyschromatosis universalis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_239082002
'dyschromatosis universalis hereditaria' EquivalentTo http://purl.obolibrary.org/obo/SCTID_239082002
http://purl.obolibrary.org/obo/MONDO_0000903
myoclonus-dystonia syndrome
http://purl.obolibrary.org/obo/GARD_0007139 EquivalentTo 'myoclonus-dystonia syndrome'
http://purl.obolibrary.org/obo/MONDO_0000902
agenesis of the corpus callosum with peripheral neuropathy
http://purl.obolibrary.org/obo/GARD_0001537 EquivalentTo 'agenesis of the corpus callosum with peripheral neuropathy'
http://purl.obolibrary.org/obo/MONDO_0000919
ampulla of vater cancer
'ampulla of vater cancer' EquivalentTo http://purl.obolibrary.org/obo/SCTID_363417006
http://purl.obolibrary.org/obo/MONDO_0000918
endometritis
'endometritis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001312
http://purl.obolibrary.org/obo/MONDO_0000911
dilated cardiomyopathy 1T
http://purl.obolibrary.org/obo/MESH_C566052 EquivalentTo 'dilated cardiomyopathy 1T'
http://purl.obolibrary.org/obo/MONDO_0000916
intestinal infectious disease
'intestinal infectious disease' SubClassOf 'infectious disease'
'intestinal infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
http://purl.obolibrary.org/obo/MONDO_0000914
CADASIL 1
'CADASIL 1' SubClassOf 'CADASIL'
'CADASIL 1' SubClassOf 'CADASIL'
http://purl.obolibrary.org/obo/MONDO_0000923
interstitial emphysema
'interstitial emphysema' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34571
'interstitial emphysema' EquivalentTo http://purl.obolibrary.org/obo/SCTID_77690003
http://purl.obolibrary.org/obo/MONDO_0000922
pelvic inflammatory disease
'pelvic inflammatory disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001388
http://purl.obolibrary.org/obo/MONDO_0000930
nodular malignant melanoma
http://purl.obolibrary.org/obo/GARD_0009961 EquivalentTo 'nodular malignant melanoma'
'nodular malignant melanoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008515
'nodular malignant melanoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254731001
http://purl.obolibrary.org/obo/MONDO_0000931
endometrial disease
'endometrial disease' SubClassOf 'uterine disease'
'endometrial disease' SubClassOf 'uterine disease'
'endometrial disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3504
http://purl.obolibrary.org/obo/MONDO_0000936
syphilitic meningitis
'syphilitic meningitis' SubClassOf 'bacterial meningitis'
'syphilitic meningitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0041825
http://purl.obolibrary.org/obo/GARD_0008731 EquivalentTo 'syphilitic meningitis'
http://purl.obolibrary.org/obo/MONDO_0000941
eyelid degenerative disease
'eyelid degenerative disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_1112003
http://purl.obolibrary.org/obo/MONDO_0009306
combined immunodeficiency with skin granulomas
http://purl.obolibrary.org/obo/MESH_C567115 EquivalentTo 'combined immunodeficiency with skin granulomas'
http://purl.obolibrary.org/obo/MONDO_0009304
Gorlin-Chaudhry-Moss syndrome
'Gorlin-Chaudhry-Moss syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0000979
pinta disease
http://purl.obolibrary.org/obo/MESH_D010874 EquivalentTo 'pinta disease'
'pinta disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001396
http://purl.obolibrary.org/obo/GARD_0007397 EquivalentTo 'pinta disease'
http://purl.obolibrary.org/obo/MONDO_0009319
pantothenate kinase-associated neurodegeneration
http://purl.obolibrary.org/obo/GARD_0006564 EquivalentTo 'pantothenate kinase-associated neurodegeneration'
http://purl.obolibrary.org/obo/MONDO_0009318
Hallermann-Streiff syndrome
'Hallermann-Streiff syndrome' SubClassOf 'rare genetic bone disease'
'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0000984
thalassemia
'thalassemia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001996
http://purl.obolibrary.org/obo/GARD_0007756 EquivalentTo 'thalassemia'
http://purl.obolibrary.org/obo/MONDO_0009316
hair defect-photosensitivity-intellectual disability syndrome
http://purl.obolibrary.org/obo/GARD_0002582 EquivalentTo 'hair defect-photosensitivity-intellectual disability syndrome'
http://purl.obolibrary.org/obo/MONDO_0010306
X-linked intellectual disability, Cabezas type
http://purl.obolibrary.org/obo/GARD_0013244 EquivalentTo 'X-linked intellectual disability, Cabezas type'
http://purl.obolibrary.org/obo/MONDO_0010305
creatine transporter deficiency
'creatine transporter deficiency' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C125665
http://purl.obolibrary.org/obo/GARD_0001608 EquivalentTo 'creatine transporter deficiency'
http://purl.obolibrary.org/obo/MONDO_0009312
lipodystrophy due to peptidic growth factors deficiency
http://purl.obolibrary.org/obo/GARD_0004280 EquivalentTo 'lipodystrophy due to peptidic growth factors deficiency'
http://purl.obolibrary.org/obo/MESH_C565529 EquivalentTo 'lipodystrophy due to peptidic growth factors deficiency'
http://purl.obolibrary.org/obo/GARD_0012604 EquivalentTo 'lipodystrophy due to peptidic growth factors deficiency'
http://purl.obolibrary.org/obo/MONDO_0010307
MRX73
http://purl.obolibrary.org/obo/MESH_C564528 EquivalentTo 'MRX73'
http://purl.obolibrary.org/obo/MONDO_0010309
MRX42
http://purl.obolibrary.org/obo/MESH_C564524 EquivalentTo 'MRX42'
http://purl.obolibrary.org/obo/MONDO_0010300
MRX53
http://purl.obolibrary.org/obo/MESH_C564533 EquivalentTo 'MRX53'
http://purl.obolibrary.org/obo/MONDO_0010302
Ito hypomelanosis
http://purl.obolibrary.org/obo/GARD_0002992 EquivalentTo 'Ito hypomelanosis'
http://purl.obolibrary.org/obo/MONDO_0000986
pleurisy
'pleurisy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001825
http://purl.obolibrary.org/obo/MONDO_0009329
pulmonary capillary hemangiomatosis
http://purl.obolibrary.org/obo/GARD_0008527 EquivalentTo 'pulmonary capillary hemangiomatosis'
http://purl.obolibrary.org/obo/MONDO_0010315
gamma chain deficiency
http://purl.obolibrary.org/obo/GARD_0005618 EquivalentTo 'gamma chain deficiency'
http://purl.obolibrary.org/obo/MONDO_0009325
deafness-enamel hypoplasia-nail defects syndrome
http://purl.obolibrary.org/obo/GARD_0001687 EquivalentTo 'deafness-enamel hypoplasia-nail defects syndrome'
http://purl.obolibrary.org/obo/MONDO_0010317
intellectual disability, X-linked, with or without seizures, Arx-related
http://purl.obolibrary.org/obo/GARD_0005614 EquivalentTo 'intellectual disability, X-linked, with or without seizures, Arx-related'
http://purl.obolibrary.org/obo/MONDO_0010318
FG syndrome 4
'FG syndrome 4' EquivalentTo http://www.orpha.net/ORDO/Orphanet_165976
http://purl.obolibrary.org/obo/MONDO_0009321
hallux varus-preaxial polysyndactyly syndrome
http://purl.obolibrary.org/obo/GARD_0003118 EquivalentTo 'hallux varus-preaxial polysyndactyly syndrome'
http://purl.obolibrary.org/obo/MONDO_0009320
hall-Riggs syndrome
http://purl.obolibrary.org/obo/GARD_0002586 EquivalentTo 'hall-Riggs syndrome'
http://purl.obolibrary.org/obo/MONDO_0010310
osteopathia striata with cranial sclerosis
http://purl.obolibrary.org/obo/GARD_0004148 EquivalentTo 'osteopathia striata with cranial sclerosis'
'osteopathia striata with cranial sclerosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0005834
http://purl.obolibrary.org/obo/MONDO_0010313
intellectual disability, X-linked 63
http://purl.obolibrary.org/obo/GARD_0005613 EquivalentTo 'intellectual disability, X-linked 63'
http://purl.obolibrary.org/obo/MONDO_0024971
parturient paresis
'parturient paresis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_405256006
http://purl.obolibrary.org/obo/MONDO_0009339
congenital bile acid synthesis defect 2
http://purl.obolibrary.org/obo/GARD_0010045 EquivalentTo 'congenital bile acid synthesis defect 2'
http://purl.obolibrary.org/obo/MONDO_0010325
X-linked intellectual disability, Stocco dos Santos type
http://purl.obolibrary.org/obo/GARD_0001133 EquivalentTo 'X-linked intellectual disability, Stocco dos Santos type'
http://purl.obolibrary.org/obo/MONDO_0010327
HSD10 disease
http://purl.obolibrary.org/obo/GARD_0010716 EquivalentTo 'HSD10 disease'
http://purl.obolibrary.org/obo/MONDO_0009333
mullerian derivatives-lymphangiectasia-polydactyly syndrome
http://purl.obolibrary.org/obo/GARD_0005430 EquivalentTo 'mullerian derivatives-lymphangiectasia-polydactyly syndrome'
http://purl.obolibrary.org/obo/MONDO_0010329
MRX77
http://purl.obolibrary.org/obo/MESH_C564511 EquivalentTo 'MRX77'
http://purl.obolibrary.org/obo/MONDO_0009331
isolated hemihyperplasia
http://purl.obolibrary.org/obo/GARD_0002630 EquivalentTo 'isolated hemihyperplasia'
http://purl.obolibrary.org/obo/MONDO_0009330
hemangiopericytoma, malignant
http://purl.obolibrary.org/obo/GARD_0002627 EquivalentTo 'hemangiopericytoma, malignant'
http://purl.obolibrary.org/obo/MESH_C562740 EquivalentTo 'hemangiopericytoma, malignant'
http://purl.obolibrary.org/obo/MONDO_0010322
MRX2
http://purl.obolibrary.org/obo/MESH_C563135 EquivalentTo 'MRX2'
http://purl.obolibrary.org/obo/MONDO_0010324
MRX81
http://purl.obolibrary.org/obo/MESH_C564515 EquivalentTo 'MRX81'
http://purl.obolibrary.org/obo/MONDO_0010323
Atkin-Flaitz syndrome
http://purl.obolibrary.org/obo/GARD_0003537 EquivalentTo 'Atkin-Flaitz syndrome'
http://purl.obolibrary.org/obo/MONDO_0010337
X-linked intellectual disability-cerebellar hypoplasia syndrome
http://purl.obolibrary.org/obo/GARD_0013093 EquivalentTo 'X-linked intellectual disability-cerebellar hypoplasia syndrome'
http://purl.obolibrary.org/obo/MONDO_0010336
orofaciodigital syndrome VIII
http://purl.obolibrary.org/obo/GARD_0004060 EquivalentTo 'orofaciodigital syndrome VIII'
http://purl.obolibrary.org/obo/MONDO_0009346
histidinuria due to a renal tubular defect
http://purl.obolibrary.org/obo/GARD_0002708 EquivalentTo 'histidinuria due to a renal tubular defect'
http://purl.obolibrary.org/obo/MONDO_0009344
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
http://purl.obolibrary.org/obo/GARD_0000584 EquivalentTo 'Hirschsprung disease-nail hypoplasia-dysmorphism syndrome'
http://purl.obolibrary.org/obo/MONDO_0009342
Hirschsprung disease-deafness-polydactyly syndrome
'Hirschsprung disease-deafness-polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MESH_C565518 EquivalentTo 'Hirschsprung disease-deafness-polydactyly syndrome'
http://purl.obolibrary.org/obo/GARD_0000157 EquivalentTo 'Hirschsprung disease-deafness-polydactyly syndrome'
http://purl.obolibrary.org/obo/MONDO_0009341
Mowat-Wilson syndrome
'Mowat-Wilson syndrome' SubClassOf 'monogenic disease with epilepsy'
http://purl.obolibrary.org/obo/MONDO_0009351
homocarnosinosis
http://purl.obolibrary.org/obo/GARD_0002730 EquivalentTo 'homocarnosinosis'
http://purl.obolibrary.org/obo/MONDO_0009350
Holzgreve-Wagner-Rehder syndrome
'Holzgreve-Wagner-Rehder syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0002728 EquivalentTo 'Holzgreve-Wagner-Rehder syndrome'
http://purl.obolibrary.org/obo/MONDO_0010333
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
http://purl.obolibrary.org/obo/GARD_0012486 EquivalentTo 'corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome'
http://purl.obolibrary.org/obo/MONDO_0010347
MRX84
http://purl.obolibrary.org/obo/MESH_C564501 EquivalentTo 'MRX84'
http://purl.obolibrary.org/obo/MONDO_0009354
methylcobalamin deficiency type cblE
'methylcobalamin deficiency type cblE' SubClassOf 'homocystinuria without methylmalonic aciduria'
'methylcobalamin deficiency type cblE' SubClassOf 'homocystinuria without methylmalonic aciduria'
http://purl.obolibrary.org/obo/GARD_0002732 EquivalentTo 'methylcobalamin deficiency type cblE'
http://purl.obolibrary.org/obo/MONDO_0009353
homocystinuria due to methylene tetrahydrofolate reductase deficiency
http://purl.obolibrary.org/obo/GARD_0002734 EquivalentTo 'homocystinuria due to methylene tetrahydrofolate reductase deficiency'
http://purl.obolibrary.org/obo/MONDO_0009362
growth delay-hydrocephaly-lung hypoplasia syndrome
http://purl.obolibrary.org/obo/GARD_0002427 EquivalentTo 'growth delay-hydrocephaly-lung hypoplasia syndrome'
http://purl.obolibrary.org/obo/MONDO_0009360
hydrocephalus, nonsyndromic, autosomal recessive 1
http://purl.obolibrary.org/obo/GARD_0006682 EquivalentTo 'hydrocephalus, nonsyndromic, autosomal recessive 1'
http://purl.obolibrary.org/obo/MONDO_0010346
MRX52
http://purl.obolibrary.org/obo/MESH_C564502 EquivalentTo 'MRX52'
http://purl.obolibrary.org/obo/MONDO_0009367
McKusick-Kaufman syndrome
'McKusick-Kaufman syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'McKusick-Kaufman syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0009363
hydrocephaly-tall stature-joint laxity syndrome
'hydrocephaly-tall stature-joint laxity syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'hydrocephaly-tall stature-joint laxity syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0001666 EquivalentTo 'hydrocephaly-tall stature-joint laxity syndrome'
http://purl.obolibrary.org/obo/MONDO_0009372
encephalopathy due to hydroxykynureninuria
http://purl.obolibrary.org/obo/GARD_0010039 EquivalentTo 'encephalopathy due to hydroxykynureninuria'
http://purl.obolibrary.org/obo/MONDO_0010352
MRX82
http://purl.obolibrary.org/obo/MESH_C564496 EquivalentTo 'MRX82'
http://purl.obolibrary.org/obo/MONDO_0010357
MRX78
http://purl.obolibrary.org/obo/MESH_C564489 EquivalentTo 'MRX78'
http://purl.obolibrary.org/obo/MONDO_0009377
hyperammonemia due to N-acetylglutamate synthase deficiency
'hyperammonemia due to N-acetylglutamate synthase deficiency' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C129307
http://purl.obolibrary.org/obo/GARD_0007158 EquivalentTo 'hyperammonemia due to N-acetylglutamate synthase deficiency'
http://purl.obolibrary.org/obo/MONDO_0009376
carbamoyl phosphate synthetase i deficiency disease
http://purl.obolibrary.org/obo/GARD_0007269 EquivalentTo 'carbamoyl phosphate synthetase i deficiency disease'
http://purl.obolibrary.org/obo/MONDO_0009374
hydroxyprolinemia (disease)
http://purl.obolibrary.org/obo/GARD_0010717 EquivalentTo 'hydroxyprolinemia (disease)'
http://purl.obolibrary.org/obo/MONDO_0009383
transient familial neonatal hyperbilirubinemia
http://purl.obolibrary.org/obo/GARD_0003304 EquivalentTo 'transient familial neonatal hyperbilirubinemia'
http://purl.obolibrary.org/obo/MONDO_0010364
X-linked intellectual disability-retinitis pigmentosa syndrome
http://purl.obolibrary.org/obo/GARD_0008360 EquivalentTo 'X-linked intellectual disability-retinitis pigmentosa syndrome'
http://purl.obolibrary.org/obo/MONDO_0009380
Dubin-Johnson syndrome
http://purl.obolibrary.org/obo/GARD_0002793 EquivalentTo 'Dubin-Johnson syndrome'
http://purl.obolibrary.org/obo/GARD_0006289 EquivalentTo 'Dubin-Johnson syndrome'
http://purl.obolibrary.org/obo/MONDO_0010366
FG syndrome 5
http://purl.obolibrary.org/obo/MESH_C564480 EquivalentTo 'FG syndrome 5'
http://purl.obolibrary.org/obo/MONDO_0010365
CFTDX
http://purl.obolibrary.org/obo/MESH_C567594 EquivalentTo 'CFTDX'
http://purl.obolibrary.org/obo/MONDO_0010367
SHOX-related short stature
http://purl.obolibrary.org/obo/MESH_C564479 EquivalentTo 'SHOX-related short stature'
'SHOX-related short stature' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008989
http://purl.obolibrary.org/obo/MONDO_0009388
hyperlysinemia (disease)
http://purl.obolibrary.org/obo/GARD_0002828 EquivalentTo 'hyperlysinemia (disease)'
http://purl.obolibrary.org/obo/MONDO_0009387
familial lipoprotein lipase deficiency
'familial lipoprotein lipase deficiency' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84771
http://purl.obolibrary.org/obo/MONDO_0009395
hyperostosis corticalis generalisata
http://purl.obolibrary.org/obo/GARD_0002833 EquivalentTo 'hyperostosis corticalis generalisata'
http://purl.obolibrary.org/obo/MONDO_0009393
ornithine translocase deficiency
http://purl.obolibrary.org/obo/GARD_0002830 EquivalentTo 'ornithine translocase deficiency'
'ornithine translocase deficiency' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C129029
http://purl.obolibrary.org/obo/MONDO_0010377
MYP13
http://purl.obolibrary.org/obo/MESH_C564473 EquivalentTo 'MYP13'
http://purl.obolibrary.org/obo/MONDO_0010379
Brunner syndrome
'Brunner syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_718210003
http://purl.obolibrary.org/obo/GARD_0003531 EquivalentTo 'Brunner syndrome'
http://purl.obolibrary.org/obo/MONDO_0010371
Aland island eye disease
http://purl.obolibrary.org/obo/GARD_0010574 EquivalentTo 'Aland island eye disease'
'Aland island eye disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_266455006
http://www.ebi.ac.uk/efo/EFO_1001177
'septic abortion' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001177
http://purl.obolibrary.org/obo/MONDO_0009397
neonatal severe primary hyperparathyroidism
'neonatal severe primary hyperparathyroidism' SubClassOf 'rare genetic inherited tumor'
'neonatal severe primary hyperparathyroidism' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/GARD_0002838 EquivalentTo 'neonatal severe primary hyperparathyroidism'
http://purl.obolibrary.org/obo/MONDO_0010383
fragile X syndrome
http://purl.obolibrary.org/obo/GARD_0006464 EquivalentTo 'fragile X syndrome'
http://purl.obolibrary.org/obo/MONDO_0010386
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
http://purl.obolibrary.org/obo/GARD_0012915 EquivalentTo 'X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency'
http://purl.obolibrary.org/obo/MONDO_0010380
cataract, ataxia, short stature, and mental retardation
http://purl.obolibrary.org/obo/GARD_0010222 EquivalentTo 'cataract, ataxia, short stature, and mental retardation'
http://purl.obolibrary.org/obo/MONDO_0010395
phosphoribosylpyrophosphate synthetase superactivity
'phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'disease caused by disruption of' some http://purl.obolibrary.org/obo/GO_0004749
'phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'disease disrupting molecular activity'
http://purl.obolibrary.org/obo/MONDO_0010397
severe neonatal-onset encephalopathy with microcephaly
'severe neonatal-onset encephalopathy with microcephaly' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C132293
http://purl.obolibrary.org/obo/MONDO_0010391
angioma serpiginosum, X-linked
http://purl.obolibrary.org/obo/GARD_0010188 EquivalentTo 'angioma serpiginosum, X-linked'
http://purl.obolibrary.org/obo/MONDO_0010390
ocular albinism with late-onset sensorineural deafness
http://purl.obolibrary.org/obo/GARD_0000592 EquivalentTo 'ocular albinism with late-onset sensorineural deafness'
http://purl.obolibrary.org/obo/MONDO_0010392
glycogen storage disease due to phosphoglycerate kinase 1 deficiency
http://purl.obolibrary.org/obo/GARD_0007389 EquivalentTo 'glycogen storage disease due to phosphoglycerate kinase 1 deficiency'
http://www.orpha.net/ORDO/Orphanet_142
'anaplastic thyroid carcinoma (disease)' EquivalentTo http://www.orpha.net/ORDO/Orphanet_142
'thyroid gland undifferentiated (anaplastic) carcinoma' EquivalentTo http://www.orpha.net/ORDO/Orphanet_142
http://purl.obolibrary.org/obo/MONDO_0000809
purpura fulminans
'purpura fulminans' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001913
http://purl.obolibrary.org/obo/MONDO_0000812
vertebral column disease
http://purl.obolibrary.org/obo/MESH_D013122 EquivalentTo 'vertebral column disease'
http://purl.obolibrary.org/obo/MONDO_0000814
B-cell adult acute lymphocytic leukemia
'B-cell adult acute lymphocytic leukemia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001935
http://purl.obolibrary.org/obo/MONDO_0000827
salmonellosis
'salmonellosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001418
http://purl.obolibrary.org/obo/MONDO_0000837
bone resorption disease
http://purl.obolibrary.org/obo/MESH_D001862 EquivalentTo 'bone resorption disease'
http://purl.obolibrary.org/obo/MONDO_0000844
spondyloepimetaphyseal dysplasia
'spondyloepimetaphyseal dysplasia' EquivalentTo http://www.orpha.net/ORDO/Orphanet_252
http://purl.obolibrary.org/obo/MONDO_0000871
T-cell childhood acute lymphocytic leukemia
'T-cell childhood acute lymphocytic leukemia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001947
http://purl.obolibrary.org/obo/MONDO_0009209
autosomal recessive faciodigitogenital syndrome
'autosomal recessive faciodigitogenital syndrome' SubClassOf 'malformation syndrome with short stature'
'autosomal recessive faciodigitogenital syndrome' SubClassOf 'disease shares features of' some 'Aarskog-Scott syndrome, X-linked'
'autosomal recessive faciodigitogenital syndrome' SubClassOf 'syndromic urogenital tract malformation'
'autosomal recessive faciodigitogenital syndrome' SubClassOf 'Aarskog-Scott-like syndrome'
'autosomal recessive faciodigitogenital syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0000874
T-cell childhood lymphoblastic lymphoma
'T-cell childhood lymphoblastic lymphoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001948
http://purl.obolibrary.org/obo/MONDO_0009208
Faciothoracogenital syndrome
http://purl.obolibrary.org/obo/GARD_0002228 EquivalentTo 'Faciothoracogenital syndrome'
http://purl.obolibrary.org/obo/MONDO_0000872
B-cell childhood acute lymphoblastic leukemia
'B-cell childhood acute lymphoblastic leukemia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001946
http://purl.obolibrary.org/obo/MONDO_0009204
lethal faciocardiomelic dysplasia
'lethal faciocardiomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0009203
focal facial dermal dysplasia type III
http://purl.obolibrary.org/obo/GARD_0000121 EquivalentTo 'focal facial dermal dysplasia type III'
http://purl.obolibrary.org/obo/MONDO_0009202
Thakker-Donnai syndrome
'Thakker-Donnai syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'Thakker-Donnai syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043009
http://purl.obolibrary.org/obo/MONDO_0009200
eyebrow duplication-syndactyly syndrome
http://purl.obolibrary.org/obo/GARD_0002216 EquivalentTo 'eyebrow duplication-syndactyly syndrome'
http://purl.obolibrary.org/obo/MONDO_0000878
cytomegalovirus retinitis
'cytomegalovirus retinitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001302
'cytomegalovirus retinitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C50521
http://purl.obolibrary.org/obo/MONDO_0009218
Farber lipogranulomatosis
http://purl.obolibrary.org/obo/GARD_0006426 EquivalentTo 'Farber lipogranulomatosis'
http://purl.obolibrary.org/obo/MONDO_0010205
Wolman disease with hypolipoproteinemia and acanthocytosis
'Wolman disease with hypolipoproteinemia and acanthocytosis' SubClassOf 'inherited genetic disease'
'Wolman disease with hypolipoproteinemia and acanthocytosis' SubClassOf 'Wolman disease'
http://purl.obolibrary.org/obo/MONDO_0010204
lysosomal acid lipase deficiency
http://purl.obolibrary.org/obo/GARD_0012097 EquivalentTo 'lysosomal acid lipase deficiency'
http://purl.obolibrary.org/obo/MESH_C531854 EquivalentTo 'lysosomal acid lipase deficiency'
http://purl.obolibrary.org/obo/MONDO_0010207
woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome
http://purl.obolibrary.org/obo/GARD_0005594 EquivalentTo 'woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome'
http://purl.obolibrary.org/obo/MONDO_0009212
congenital factor X deficiency
http://purl.obolibrary.org/obo/GARD_0006404 EquivalentTo 'congenital factor X deficiency'
http://purl.obolibrary.org/obo/MONDO_0010209
xanthinuria type I
http://purl.obolibrary.org/obo/GARD_0005621 EquivalentTo 'xanthinuria type I'
http://purl.obolibrary.org/obo/MONDO_0009211
congenital factor VII deficiency
http://purl.obolibrary.org/obo/GARD_0002238 EquivalentTo 'congenital factor VII deficiency'
http://purl.obolibrary.org/obo/MONDO_0010208
Wrinkly skin syndrome
http://purl.obolibrary.org/obo/GARD_0000273 EquivalentTo 'Wrinkly skin syndrome'
http://purl.obolibrary.org/obo/MONDO_0010201
Winchester syndrome
http://purl.obolibrary.org/obo/GARD_0007894 EquivalentTo 'Winchester syndrome'
http://purl.obolibrary.org/obo/MONDO_0009229
hyaline fibromatosis syndrome
http://purl.obolibrary.org/obo/GARD_0006807 EquivalentTo 'hyaline fibromatosis syndrome'
http://purl.obolibrary.org/obo/MONDO_0009228
gingival fibromatosis-facial dysmorphism syndrome
'gingival fibromatosis-facial dysmorphism syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'gingival fibromatosis-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0010216
xeroderma pigmentosum group G
http://purl.obolibrary.org/obo/MESH_C562593 EquivalentTo 'xeroderma pigmentosum group G'
http://purl.obolibrary.org/obo/GARD_0005629 EquivalentTo 'xeroderma pigmentosum group G'
http://purl.obolibrary.org/obo/MONDO_0009227
myofibromatosis, infantile, 1
http://purl.obolibrary.org/obo/MESH_C562978 EquivalentTo 'myofibromatosis, infantile, 1'
http://purl.obolibrary.org/obo/MONDO_0010215
xeroderma pigmentosum group F
http://purl.obolibrary.org/obo/GARD_0005628 EquivalentTo 'xeroderma pigmentosum group F'
http://purl.obolibrary.org/obo/MONDO_0010217
de Sanctis-Cacchione syndrome
'de Sanctis-Cacchione syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_1569
http://purl.obolibrary.org/obo/MONDO_0009224
fetal iodine syndrome
'fetal iodine syndrome' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0009223
hypogonadotropic hypogonadism 23 with or without anosmia
http://purl.obolibrary.org/obo/GARD_0010127 EquivalentTo 'hypogonadotropic hypogonadism 23 with or without anosmia'
http://purl.obolibrary.org/obo/MONDO_0009222
Gollop-Wolfgang complex
http://purl.obolibrary.org/obo/GARD_0002285 EquivalentTo 'Gollop-Wolfgang complex'
http://purl.obolibrary.org/obo/MONDO_0009221
femur-fibula-ulna complex
http://purl.obolibrary.org/obo/GARD_0002286 EquivalentTo 'femur-fibula-ulna complex'
http://purl.obolibrary.org/obo/MONDO_0009220
visceral steatosis, congenital
http://purl.obolibrary.org/obo/GARD_0008514 EquivalentTo 'visceral steatosis, congenital'
http://purl.obolibrary.org/obo/MONDO_0009230
fibrosclerosis, multifocal
http://purl.obolibrary.org/obo/GARD_0005697 EquivalentTo 'fibrosclerosis, multifocal'
http://purl.obolibrary.org/obo/MONDO_0010210
xeroderma pigmentosum group A
http://purl.obolibrary.org/obo/GARD_0005624 EquivalentTo 'xeroderma pigmentosum group A'
http://purl.obolibrary.org/obo/MONDO_0010211
xeroderma pigmentosum group C
http://purl.obolibrary.org/obo/GARD_0005626 EquivalentTo 'xeroderma pigmentosum group C'
http://purl.obolibrary.org/obo/MONDO_0010213
xeroderma pigmentosum group E
http://purl.obolibrary.org/obo/GARD_0005627 EquivalentTo 'xeroderma pigmentosum group E'
http://purl.obolibrary.org/obo/MONDO_0009239
hypogonadotropic hypogonadism 24 without anosmia
http://purl.obolibrary.org/obo/GARD_0010128 EquivalentTo 'hypogonadotropic hypogonadism 24 without anosmia'
http://purl.obolibrary.org/obo/MONDO_0009235
familial benign flecked retina
http://purl.obolibrary.org/obo/MESH_C565564 EquivalentTo 'familial benign flecked retina'
http://purl.obolibrary.org/obo/MONDO_0010228
DFNX3
http://purl.obolibrary.org/obo/GARD_0001707 EquivalentTo 'DFNX3'
http://purl.obolibrary.org/obo/MONDO_0009233
Fibulo-ulnar hypoplasia-renal anomalies syndrome
http://purl.obolibrary.org/obo/GARD_0000320 EquivalentTo 'Fibulo-ulnar hypoplasia-renal anomalies syndrome'
'Fibulo-ulnar hypoplasia-renal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0009240
Formiminoglutamic aciduria
http://purl.obolibrary.org/obo/GARD_0009279 EquivalentTo 'Formiminoglutamic aciduria'
http://purl.obolibrary.org/obo/MONDO_0010221
CHIME syndrome
http://purl.obolibrary.org/obo/GARD_0000310 EquivalentTo 'CHIME syndrome'
http://purl.obolibrary.org/obo/MONDO_0010224
corpus callosum agenesis-abnormal genitalia syndrome
http://purl.obolibrary.org/obo/GARD_0004528 EquivalentTo 'corpus callosum agenesis-abnormal genitalia syndrome'
http://purl.obolibrary.org/obo/MONDO_0009249
hereditary fructose intolerance
'hereditary fructose intolerance' EquivalentTo http://purl.obolibrary.org/obo/SCTID_20052008
http://purl.obolibrary.org/obo/GARD_0006622 EquivalentTo 'hereditary fructose intolerance'
http://purl.obolibrary.org/obo/MONDO_0010237
X-linked intellectual disability-plagiocephaly syndrome
http://purl.obolibrary.org/obo/GARD_0002765 EquivalentTo 'X-linked intellectual disability-plagiocephaly syndrome'
http://purl.obolibrary.org/obo/GARD_0004377 EquivalentTo 'X-linked intellectual disability-plagiocephaly syndrome'
http://purl.obolibrary.org/obo/MONDO_0009247
Frontofacionasal dysplasia
'Frontofacionasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0009243
Fraser-like syndrome
'Fraser-like syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_2051
http://purl.obolibrary.org/obo/MONDO_0009242
brittle cornea syndrome
'brittle cornea syndrome' SubClassOf 'Ehlers-Danlos syndrome'
'brittle cornea syndrome' SubClassOf 'corneal disease'
'brittle cornea syndrome' SubClassOf 'Ehlers-Danlos syndrome'
'brittle cornea syndrome' SubClassOf 'corneal disease'
http://purl.obolibrary.org/obo/MONDO_0010230
MRX23
http://purl.obolibrary.org/obo/MESH_C563144 EquivalentTo 'MRX23'
http://purl.obolibrary.org/obo/MONDO_0009252
essential fructosuria
'essential fructosuria' EquivalentTo http://purl.obolibrary.org/obo/SCTID_40278002
http://purl.obolibrary.org/obo/MONDO_0009251
fructose-1,6-bisphosphatase deficiency
http://purl.obolibrary.org/obo/GARD_0002400 EquivalentTo 'fructose-1,6-bisphosphatase deficiency'
'fructose-1,6-bisphosphatase deficiency' EquivalentTo http://purl.obolibrary.org/obo/SCTID_28183005
http://purl.obolibrary.org/obo/MONDO_0010231
MRX20
http://purl.obolibrary.org/obo/MESH_C563142 EquivalentTo 'MRX20'
http://purl.obolibrary.org/obo/MONDO_0010233
heterotopia, periventricular, X-linked dominant
http://purl.obolibrary.org/obo/GARD_0007371 EquivalentTo 'heterotopia, periventricular, X-linked dominant'
http://purl.obolibrary.org/obo/MONDO_0010236
MRX14
http://purl.obolibrary.org/obo/MESH_C537454 EquivalentTo 'MRX14'
http://purl.obolibrary.org/obo/GARD_0008557 EquivalentTo 'MRX14'
http://purl.obolibrary.org/obo/MONDO_0010248
X-linked spondyloepimetaphyseal dysplasia
'X-linked spondyloepimetaphyseal dysplasia' SubClassOf 'rare genetic bone disease'
'X-linked spondyloepimetaphyseal dysplasia' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0010243
X-linked immunoneurologic disorder
http://purl.obolibrary.org/obo/GARD_0000274 EquivalentTo 'X-linked immunoneurologic disorder'
http://purl.obolibrary.org/obo/MONDO_0010246
early infantile epileptic encephalopathy 9
http://purl.obolibrary.org/obo/GARD_0010806 EquivalentTo 'early infantile epileptic encephalopathy 9'
http://purl.obolibrary.org/obo/MONDO_0009268
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
http://purl.obolibrary.org/obo/GARD_0012504 EquivalentTo 'Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome'
http://purl.obolibrary.org/obo/GARD_0002445 EquivalentTo 'Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome'
http://purl.obolibrary.org/obo/MONDO_0009267
Gaucher disease type III
http://purl.obolibrary.org/obo/GARD_0002443 EquivalentTo 'Gaucher disease type III'
http://purl.obolibrary.org/obo/MONDO_0009266
Gaucher disease type II
http://purl.obolibrary.org/obo/GARD_0002442 EquivalentTo 'Gaucher disease type II'
http://purl.obolibrary.org/obo/MONDO_0009265
Gaucher disease type I
http://purl.obolibrary.org/obo/GARD_0002441 EquivalentTo 'Gaucher disease type I'
http://purl.obolibrary.org/obo/MONDO_0010251
MRX50
http://purl.obolibrary.org/obo/MESH_C564713 EquivalentTo 'MRX50'
http://purl.obolibrary.org/obo/MONDO_0010253
migraine, familial Typical, susceptibility to, 2
'migraine, familial Typical, susceptibility to, 2' SubClassOf 'rare genetic vascular disease'
http://purl.obolibrary.org/obo/MONDO_0009270
genito-palato-cardiac syndrome
'genito-palato-cardiac syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
'genito-palato-cardiac syndrome' SubClassOf 'syndrome with 46,XY disorder of sex development'
http://purl.obolibrary.org/obo/MONDO_0010258
MEHMO syndrome
http://purl.obolibrary.org/obo/GARD_0009178 EquivalentTo 'MEHMO syndrome'
http://purl.obolibrary.org/obo/MONDO_0009279
triple-a syndrome
'triple-a syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001997
http://purl.obolibrary.org/obo/MONDO_0009278
hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
http://purl.obolibrary.org/obo/MESH_C535310 EquivalentTo 'hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency'
http://purl.obolibrary.org/obo/MONDO_0009276
Bernard-Soulier syndrome
http://purl.obolibrary.org/obo/GARD_0002470 EquivalentTo 'Bernard-Soulier syndrome'
http://purl.obolibrary.org/obo/MONDO_0009285
gamma-glutamyl transpeptidase deficiency
http://purl.obolibrary.org/obo/GARD_0010099 EquivalentTo 'gamma-glutamyl transpeptidase deficiency'
http://purl.obolibrary.org/obo/MONDO_0009284
glutathione synthetase deficiency without 5-oxoprolinuria
http://purl.obolibrary.org/obo/MESH_C565545 EquivalentTo 'glutathione synthetase deficiency without 5-oxoprolinuria'
http://purl.obolibrary.org/obo/MONDO_0010262
hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem Responses
http://purl.obolibrary.org/obo/GARD_0009601 EquivalentTo 'hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem Responses'
http://purl.obolibrary.org/obo/MONDO_0010264
X-linked adrenal hypoplasia congenita
'X-linked adrenal hypoplasia congenita' EquivalentTo http://purl.obolibrary.org/obo/SCTID_93235007
http://purl.obolibrary.org/obo/GARD_0000555 EquivalentTo 'X-linked adrenal hypoplasia congenita'
http://purl.obolibrary.org/obo/MONDO_0009282
multiple acyl-CoA dehydrogenase deficiency
http://purl.obolibrary.org/obo/GARD_0006523 EquivalentTo 'multiple acyl-CoA dehydrogenase deficiency'
http://purl.obolibrary.org/obo/MONDO_0009281
Glutaryl-CoA dehydrogenase deficiency
'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'glutaric aciduria (disease)'
http://purl.obolibrary.org/obo/GARD_0006522 EquivalentTo 'Glutaryl-CoA dehydrogenase deficiency'
'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'glutaric aciduria (disease)'
http://purl.obolibrary.org/obo/MONDO_0010267
EMWX
http://purl.obolibrary.org/obo/MESH_C564565 EquivalentTo 'EMWX'
http://purl.obolibrary.org/obo/MONDO_0009288
glycogen storage disease due to glucose-6-phosphatase deficiency type IB
http://purl.obolibrary.org/obo/GARD_0002515 EquivalentTo 'glycogen storage disease due to glucose-6-phosphatase deficiency type IB'
http://purl.obolibrary.org/obo/MONDO_0009287
glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
http://purl.obolibrary.org/obo/GARD_0007864 EquivalentTo 'glycogen storage disease due to glucose-6-phosphatase deficiency type Ia'
http://purl.obolibrary.org/obo/MONDO_0009286
gluteal muscles, absence of
http://purl.obolibrary.org/obo/MESH_C535561 EquivalentTo 'gluteal muscles, absence of'
http://purl.obolibrary.org/obo/MONDO_0010274
TGCT1
http://purl.obolibrary.org/obo/MESH_C564559 EquivalentTo 'TGCT1'
http://purl.obolibrary.org/obo/MONDO_0009295
glycogen storage disease VII
http://purl.obolibrary.org/obo/GARD_0005686 EquivalentTo 'glycogen storage disease VII'
http://purl.obolibrary.org/obo/MONDO_0010273
lymphoma, Hodgkin, X-linked pseudoautosomal
http://purl.obolibrary.org/obo/GARD_0009899 EquivalentTo 'lymphoma, Hodgkin, X-linked pseudoautosomal'
http://purl.obolibrary.org/obo/MONDO_0009294
glycogen storage disease VI
http://purl.obolibrary.org/obo/GARD_0006529 EquivalentTo 'glycogen storage disease VI'
http://purl.obolibrary.org/obo/MONDO_0009293
glycogen storage disease V
http://purl.obolibrary.org/obo/GARD_0006528 EquivalentTo 'glycogen storage disease V'
http://purl.obolibrary.org/obo/MONDO_0010275
spondyloepimetaphyseal dysplasia, Bieganski type
http://purl.obolibrary.org/obo/GARD_0004891 EquivalentTo 'spondyloepimetaphyseal dysplasia, Bieganski type'
http://purl.obolibrary.org/obo/MONDO_0009292
glycogen storage disease due to glycogen branching enzyme deficiency
http://purl.obolibrary.org/obo/GARD_0002520 EquivalentTo 'glycogen storage disease due to glycogen branching enzyme deficiency'
http://purl.obolibrary.org/obo/MONDO_0010278
Christianson syndrome
'Christianson syndrome' SubClassOf 'cerebral malformation with epilepsy'
http://purl.obolibrary.org/obo/MONDO_0009291
glycogen storage disease III
http://purl.obolibrary.org/obo/GARD_0009442 EquivalentTo 'glycogen storage disease III'
http://purl.obolibrary.org/obo/MONDO_0010277
syndromic X-linked intellectual disability Shashi type
http://purl.obolibrary.org/obo/GARD_0004119 EquivalentTo 'syndromic X-linked intellectual disability Shashi type'
http://purl.obolibrary.org/obo/MONDO_0009290
glycogen storage disease II
http://purl.obolibrary.org/obo/GARD_0005714 EquivalentTo 'glycogen storage disease II'
http://purl.obolibrary.org/obo/GARD_0002503 EquivalentTo 'glycogen storage disease II'
http://purl.obolibrary.org/obo/MONDO_0010279
terminal osseous dysplasia-pigmentary defects syndrome
'terminal osseous dysplasia-pigmentary defects syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'terminal osseous dysplasia-pigmentary defects syndrome' SubClassOf 'rare genetic skin disease'
http://purl.obolibrary.org/obo/MONDO_0010270
syndromic X-linked intellectual disability 7
http://purl.obolibrary.org/obo/GARD_0009156 EquivalentTo 'syndromic X-linked intellectual disability 7'
http://purl.obolibrary.org/obo/MONDO_0009298
GOMBO syndrome
http://purl.obolibrary.org/obo/GARD_0002537 EquivalentTo 'GOMBO syndrome'
http://purl.obolibrary.org/obo/MONDO_0010285
syndromic X-linked intellectual disability Abidi type
http://purl.obolibrary.org/obo/GARD_0009157 EquivalentTo 'syndromic X-linked intellectual disability Abidi type'
http://purl.obolibrary.org/obo/MESH_C535556 EquivalentTo 'syndromic X-linked intellectual disability Abidi type'
http://purl.obolibrary.org/obo/MONDO_0010287
hereditary spastic paraplegia 16
http://purl.obolibrary.org/obo/GARD_0009585 EquivalentTo 'hereditary spastic paraplegia 16'
http://purl.obolibrary.org/obo/MONDO_0010286
syndromic X-linked intellectual disability Siderius type
http://purl.obolibrary.org/obo/GARD_0009704 EquivalentTo 'syndromic X-linked intellectual disability Siderius type'
http://purl.obolibrary.org/obo/MONDO_0010288
adrenomyodystrophy
http://purl.obolibrary.org/obo/GARD_0000562 EquivalentTo 'adrenomyodystrophy'
http://purl.obolibrary.org/obo/MONDO_0010281
Danon disease
'Danon disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84735
http://purl.obolibrary.org/obo/MONDO_0010283
syndromic X-linked intellectual disability Lubs type
http://purl.obolibrary.org/obo/GARD_0009781 EquivalentTo 'syndromic X-linked intellectual disability Lubs type'
http://purl.obolibrary.org/obo/MONDO_0010296
AGMX2
http://purl.obolibrary.org/obo/MESH_C538057 EquivalentTo 'AGMX2'
http://purl.obolibrary.org/obo/GARD_0010007 EquivalentTo 'AGMX2'
http://purl.obolibrary.org/obo/MONDO_0010295
anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
'anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MESH_C564538 EquivalentTo 'anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome'
'anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042973
http://purl.obolibrary.org/obo/MONDO_0010298
Lesch-Nyhan syndrome
http://purl.obolibrary.org/obo/GARD_0007226 EquivalentTo 'Lesch-Nyhan syndrome'
http://purl.obolibrary.org/obo/MONDO_0010290
MNG2
http://purl.obolibrary.org/obo/MESH_C564546 EquivalentTo 'MNG2'
http://purl.obolibrary.org/obo/MONDO_0010293
hypohidrotic ectodermal dysplasia with immunodeficiency
http://purl.obolibrary.org/obo/GARD_0009936 EquivalentTo 'hypohidrotic ectodermal dysplasia with immunodeficiency'
http://purl.obolibrary.org/obo/MONDO_0010086
sudden infant death syndrome
'sudden infant death syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_51178009
http://purl.obolibrary.org/obo/MONDO_0010089
isolated sulfite oxidase deficiency
http://purl.obolibrary.org/obo/GARD_0005062 EquivalentTo 'isolated sulfite oxidase deficiency'
http://purl.obolibrary.org/obo/MONDO_0010088
mucosulfatidosis
http://purl.obolibrary.org/obo/GARD_0005061 EquivalentTo 'mucosulfatidosis'
http://purl.obolibrary.org/obo/MONDO_0010098
taurodontism (disease)
http://purl.obolibrary.org/obo/GARD_0005119 EquivalentTo 'taurodontism (disease)'
http://purl.obolibrary.org/obo/MONDO_0010092
Filippi syndrome
http://purl.obolibrary.org/obo/GARD_0000062 EquivalentTo 'Filippi syndrome'
http://purl.obolibrary.org/obo/MONDO_0010091
Crisponi syndrome
http://purl.obolibrary.org/obo/GARD_0001611 EquivalentTo 'Crisponi syndrome'
http://purl.obolibrary.org/obo/MONDO_0010094
spondylocarpotarsal synostosis syndrome
'spondylocarpotarsal synostosis syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0010093
syndesmodysplasic dwarfism
'syndesmodysplasic dwarfism' EquivalentTo http://www.orpha.net/ORDO/Orphanet_2654
http://purl.obolibrary.org/obo/MONDO_0000703
collagenous colitis
'collagenous colitis' EquivalentTo http://www.orpha.net/ORDO/Orphanet_36205
'collagenous colitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001293
http://purl.obolibrary.org/obo/MONDO_0000702
microscopic colitis
'microscopic colitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001295
'microscopic colitis' EquivalentTo http://www.orpha.net/ORDO/Orphanet_58220
http://purl.obolibrary.org/obo/MONDO_0000700
familial hemiplegic migraine
http://purl.obolibrary.org/obo/GARD_0010975 EquivalentTo 'familial hemiplegic migraine'
http://purl.obolibrary.org/obo/MONDO_0000704
lymphocytic colitis
'lymphocytic colitis' EquivalentTo http://www.orpha.net/ORDO/Orphanet_65279
'lymphocytic colitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001294
http://purl.obolibrary.org/obo/MONDO_0000736
dyschromatosis universalis hereditaria
'dyschromatosis universalis hereditaria' SubClassOf 'pigmentation disease'
'dyschromatosis universalis hereditaria' EquivalentTo http://www.orpha.net/ORDO/Orphanet_241
http://linkedlifedata.com/resource/umls/id/C1306229 EquivalentTo 'dyschromatosis universalis hereditaria'
'dyschromatosis universalis hereditaria' EquivalentTo http://purl.obolibrary.org/obo/SCTID_239082002
'dyschromatosis universalis hereditaria' SubClassOf 'hyperpigmentation of the skin'
http://purl.obolibrary.org/obo/MONDO_0000743
oral hairy leukoplakia
'oral hairy leukoplakia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3722
http://purl.obolibrary.org/obo/MONDO_0000744
lung abscess (disease)
'lung abscess (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001362
http://purl.obolibrary.org/obo/MONDO_0000754
anal fistula (disease)
'anal fistula (disease)' EquivalentTo http://purl.obolibrary.org/obo/SCTID_72779005
http://purl.obolibrary.org/obo/MONDO_0009107
diastrophic dysplasia
'diastrophic dysplasia' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/GARD_0006275 EquivalentTo 'diastrophic dysplasia'
http://purl.obolibrary.org/obo/MONDO_0009106
diastematomyelia
http://purl.obolibrary.org/obo/GARD_0001851 EquivalentTo 'diastematomyelia'
http://purl.obolibrary.org/obo/MONDO_0009105
tricho-hepato-enteric syndrome
'tricho-hepato-enteric syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_703406006
http://purl.obolibrary.org/obo/GARD_0005258 EquivalentTo 'tricho-hepato-enteric syndrome'
http://purl.obolibrary.org/obo/MONDO_0009104
Donnai-Barrow syndrome
'Donnai-Barrow syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'Donnai-Barrow syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0009103
DIH2
http://purl.obolibrary.org/obo/MESH_C565629 EquivalentTo 'DIH2'
http://purl.obolibrary.org/obo/MONDO_0009118
disseminated sclerosis with narcolepsy
'disseminated sclerosis with narcolepsy' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0022202
http://purl.obolibrary.org/obo/MONDO_0010108
testicular germ cell tumor
http://purl.obolibrary.org/obo/GARD_0013047 EquivalentTo 'testicular germ cell tumor'
http://purl.obolibrary.org/obo/MONDO_0009114
congenital sucrase-isomaltase deficiency
http://purl.obolibrary.org/obo/GARD_0007710 EquivalentTo 'congenital sucrase-isomaltase deficiency'
http://purl.obolibrary.org/obo/MONDO_0009113
hemolytic anemia due to diphosphoglycerate mutase deficiency
http://purl.obolibrary.org/obo/GARD_0001874 EquivalentTo 'hemolytic anemia due to diphosphoglycerate mutase deficiency'
http://purl.obolibrary.org/obo/MONDO_0009111
dihydropyrimidinuria
http://purl.obolibrary.org/obo/GARD_0012347 EquivalentTo 'dihydropyrimidinuria'
http://purl.obolibrary.org/obo/MONDO_0009120
marfanoid syndrome, de Silva type
http://purl.obolibrary.org/obo/GARD_0003401 EquivalentTo 'marfanoid syndrome, de Silva type'
http://purl.obolibrary.org/obo/MONDO_0010104
non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
http://purl.obolibrary.org/obo/GARD_0005127 EquivalentTo 'non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome'
http://purl.obolibrary.org/obo/GARD_0005027 EquivalentTo 'non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome'
http://purl.obolibrary.org/obo/MONDO_0010116
Thoracomelic dysplasia
http://purl.obolibrary.org/obo/GARD_0010612 EquivalentTo 'Thoracomelic dysplasia'
http://purl.obolibrary.org/obo/MESH_C564773 EquivalentTo 'Thoracomelic dysplasia'
'Thoracomelic dysplasia' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0009126
duodenal atresia (disease)
http://purl.obolibrary.org/obo/GARD_0000054 EquivalentTo 'duodenal atresia (disease)'
http://purl.obolibrary.org/obo/MONDO_0010119
Glanzmann's thrombasthenia
http://purl.obolibrary.org/obo/GARD_0002478 EquivalentTo 'Glanzmann's thrombasthenia'
http://purl.obolibrary.org/obo/MONDO_0009124
Dubowitz syndrome
'Dubowitz syndrome' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/HP_0001510
http://purl.obolibrary.org/obo/MONDO_0009121
von Voss-Cherstvoy syndrome
'von Voss-Cherstvoy syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/GARD_0001894 EquivalentTo 'von Voss-Cherstvoy syndrome'
'von Voss-Cherstvoy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0009131
Riley-Day syndrome
http://purl.obolibrary.org/obo/GARD_0007581 EquivalentTo 'Riley-Day syndrome'
http://purl.obolibrary.org/obo/MONDO_0009130
Dyggve-Melchior-Clausen disease
'Dyggve-Melchior-Clausen disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_82699004
http://purl.obolibrary.org/obo/GARD_0006295 EquivalentTo 'Dyggve-Melchior-Clausen disease'
http://purl.obolibrary.org/obo/MONDO_0010110
tetraamelia-multiple malformations syndrome
http://purl.obolibrary.org/obo/GARD_0000386 EquivalentTo 'tetraamelia-multiple malformations syndrome'
'tetraamelia-multiple malformations syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0010114
thanatophoric dysplasia, glasgow variant
'thanatophoric dysplasia, glasgow variant' EquivalentTo http://www.orpha.net/ORDO/Orphanet_93275
http://purl.obolibrary.org/obo/MONDO_0010128
thyrocerebrorenal syndrome
http://purl.obolibrary.org/obo/GARD_0005203 EquivalentTo 'thyrocerebrorenal syndrome'
http://purl.obolibrary.org/obo/MONDO_0010129
thymic-renal-anal-lung dysplasia
'thymic-renal-anal-lung dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0009136
dyskeratosis congenita, autosomal recessive 1
http://purl.obolibrary.org/obo/MESH_C565611 EquivalentTo 'dyskeratosis congenita, autosomal recessive 1'
'dyskeratosis congenita, autosomal recessive 1' EquivalentTo http://purl.obolibrary.org/obo/SCTID_707272006
http://purl.obolibrary.org/obo/MONDO_0009134
congenital dyserythropoietic anemia type II
http://purl.obolibrary.org/obo/GARD_0002001 EquivalentTo 'congenital dyserythropoietic anemia type II'
http://purl.obolibrary.org/obo/MONDO_0009141
torsion dystonia 2
http://purl.obolibrary.org/obo/GARD_0002028 EquivalentTo 'torsion dystonia 2'
http://purl.obolibrary.org/obo/MONDO_0009140
Silverman-Handmaker type dyssegmental dysplasia
'Silverman-Handmaker type dyssegmental dysplasia' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0010122
congenital thrombotic thrombocytopenic purpura
http://purl.obolibrary.org/obo/GARD_0009430 EquivalentTo 'congenital thrombotic thrombocytopenic purpura'
http://purl.obolibrary.org/obo/MONDO_0010121
thrombocytopenia-absent radius syndrome
http://purl.obolibrary.org/obo/GARD_0005116 EquivalentTo 'thrombocytopenia-absent radius syndrome'
http://purl.obolibrary.org/obo/MONDO_0010139
isolated thyroid-stimulating hormone deficiency
http://purl.obolibrary.org/obo/GARD_0010129 EquivalentTo 'isolated thyroid-stimulating hormone deficiency'
http://purl.obolibrary.org/obo/MONDO_0009148
Rosselli-Gulienetti syndrome
'Rosselli-Gulienetti syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_90339
http://purl.obolibrary.org/obo/MONDO_0009144
Ebstein anomaly
http://purl.obolibrary.org/obo/GARD_0006313 EquivalentTo 'Ebstein anomaly'
http://purl.obolibrary.org/obo/MONDO_0010131
thyroid hormone resistance, generalized, autosomal recessive
http://purl.obolibrary.org/obo/GARD_0000301 EquivalentTo 'thyroid hormone resistance, generalized, autosomal recessive'
http://purl.obolibrary.org/obo/MONDO_0009152
ectopia lentis 2, isolated, autosomal recessive
http://purl.obolibrary.org/obo/GARD_0002060 EquivalentTo 'ectopia lentis 2, isolated, autosomal recessive'
http://purl.obolibrary.org/obo/MONDO_0010133
thyroid dyshormonogenesis 2A
'thyroid dyshormonogenesis 2A' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C121750
http://purl.obolibrary.org/obo/MONDO_0009151
cleft lip-palate-ectodermal dysplasia syndrome
http://purl.obolibrary.org/obo/GARD_0000375 EquivalentTo 'cleft lip-palate-ectodermal dysplasia syndrome'
http://purl.obolibrary.org/obo/GARD_0001045 EquivalentTo 'cleft lip-palate-ectodermal dysplasia syndrome'
http://purl.obolibrary.org/obo/MONDO_0010132
familial thyroid dyshormonogenesis
'familial thyroid dyshormonogenesis' SubClassOf 'metabolic disease'
'familial thyroid dyshormonogenesis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_718183003
'familial thyroid dyshormonogenesis' SubClassOf 'inborn errors of metabolism'
http://purl.obolibrary.org/obo/MONDO_0010134
Pendred syndrome
http://purl.obolibrary.org/obo/GARD_0004271 EquivalentTo 'Pendred syndrome'
http://purl.obolibrary.org/obo/MONDO_0009159
Ehlers-Danlos syndrome, cardiac valvular type
http://purl.obolibrary.org/obo/GARD_0012613 EquivalentTo 'Ehlers-Danlos syndrome, cardiac valvular type'
http://purl.obolibrary.org/obo/MONDO_0009158
Ehlers-Danlos syndrome, fibronectinemic type
http://purl.obolibrary.org/obo/GARD_0008508 EquivalentTo 'Ehlers-Danlos syndrome, fibronectinemic type'
http://purl.obolibrary.org/obo/MONDO_0010144
tibial hemimelia
http://purl.obolibrary.org/obo/GARD_0008707 EquivalentTo 'tibial hemimelia'
http://purl.obolibrary.org/obo/MONDO_0010143
lethal restrictive dermopathy
http://purl.obolibrary.org/obo/GARD_0001516 EquivalentTo 'lethal restrictive dermopathy'
'lethal restrictive dermopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0009161
Ehlers-Danlos syndrome, dermatosparaxis type
http://purl.obolibrary.org/obo/GARD_0002089 EquivalentTo 'Ehlers-Danlos syndrome, dermatosparaxis type'
http://purl.obolibrary.org/obo/MONDO_0010148
Mounier-Kuhn syndrome
http://purl.obolibrary.org/obo/GARD_0003793 EquivalentTo 'Mounier-Kuhn syndrome'
http://purl.obolibrary.org/obo/GARD_0005234 EquivalentTo 'Mounier-Kuhn syndrome'
http://purl.obolibrary.org/obo/MONDO_0009175
eosinophilic fasciitis (disease)
http://purl.obolibrary.org/obo/GARD_0006351 EquivalentTo 'eosinophilic fasciitis (disease)'
http://purl.obolibrary.org/obo/MONDO_0010152
trichomegaly-retina pigmentary degeneration-dwarfism syndrome
http://purl.obolibrary.org/obo/GARD_0005266 EquivalentTo 'trichomegaly-retina pigmentary degeneration-dwarfism syndrome'
http://purl.obolibrary.org/obo/MONDO_0010155
Dorfman-Chanarin disease
http://purl.obolibrary.org/obo/GARD_0003979 EquivalentTo 'Dorfman-Chanarin disease'
http://purl.obolibrary.org/obo/MONDO_0009172
enterocolitis (disease)
'enterocolitis (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001481
http://purl.obolibrary.org/obo/MONDO_0010154
trigonocephaly-bifid nose-acral anomalies syndrome
'trigonocephaly-bifid nose-acral anomalies syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'trigonocephaly-bifid nose-acral anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0005126 EquivalentTo 'trigonocephaly-bifid nose-acral anomalies syndrome'
http://purl.obolibrary.org/obo/MONDO_0010159
constitutional mismatch repair deficiency syndrome
http://purl.obolibrary.org/obo/GARD_0000420 EquivalentTo 'constitutional mismatch repair deficiency syndrome'
http://purl.obolibrary.org/obo/MONDO_0009179
recessive dystrophic epidermolysis bullosa
http://purl.obolibrary.org/obo/GARD_0006308 EquivalentTo 'recessive dystrophic epidermolysis bullosa'
http://purl.obolibrary.org/obo/MONDO_0009177
late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
http://purl.obolibrary.org/obo/GARD_0000299 EquivalentTo 'late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome'
http://purl.obolibrary.org/obo/MONDO_0010164
phocomelia, Schinzel type
http://purl.obolibrary.org/obo/GARD_0005124 EquivalentTo 'phocomelia, Schinzel type'
http://purl.obolibrary.org/obo/GARD_0009212 EquivalentTo 'phocomelia, Schinzel type'
http://purl.obolibrary.org/obo/MONDO_0009185
Amelocerebrohypohidrotic syndrome
http://purl.obolibrary.org/obo/GARD_0003128 EquivalentTo 'Amelocerebrohypohidrotic syndrome'
http://purl.obolibrary.org/obo/MONDO_0010165
ulna hypoplasia-intellectual disability syndrome
http://purl.obolibrary.org/obo/GARD_0005398 EquivalentTo 'ulna hypoplasia-intellectual disability syndrome'
http://purl.obolibrary.org/obo/MONDO_0009182
junctional epidermolysis bullosa Herlitz type
'junctional epidermolysis bullosa Herlitz type' EquivalentTo http://purl.obolibrary.org/obo/SCTID_400140006
http://purl.obolibrary.org/obo/MONDO_0010168
Usher syndrome type 1
http://purl.obolibrary.org/obo/GARD_0005436 EquivalentTo 'Usher syndrome type 1'
http://purl.obolibrary.org/obo/GARD_0005435 EquivalentTo 'Usher syndrome type 1'
http://purl.obolibrary.org/obo/MONDO_0010167
Urocanic aciduria (disease)
http://purl.obolibrary.org/obo/GARD_0008539 EquivalentTo 'Urocanic aciduria (disease)'
http://purl.obolibrary.org/obo/MESH_C536479 EquivalentTo 'Urocanic aciduria (disease)'
http://purl.obolibrary.org/obo/MONDO_0009180
junctional epidermolysis bullosa, non-Herlitz type
http://purl.obolibrary.org/obo/GARD_0002151 EquivalentTo 'junctional epidermolysis bullosa, non-Herlitz type'
http://purl.obolibrary.org/obo/MONDO_0010169
Usher syndrome type 2A
http://purl.obolibrary.org/obo/GARD_0005440 EquivalentTo 'Usher syndrome type 2A'
http://purl.obolibrary.org/obo/MONDO_0010160
tyrosinemia type II
'tyrosinemia type II' EquivalentTo http://purl.obolibrary.org/obo/SCTID_4887000
http://purl.obolibrary.org/obo/MONDO_0010161
tyrosinemia type i
'tyrosinemia type i' EquivalentTo http://purl.obolibrary.org/obo/SCTID_410056006
http://purl.obolibrary.org/obo/MONDO_0009189
multiple epiphyseal dysplasia type 4
http://purl.obolibrary.org/obo/GARD_0009793 EquivalentTo 'multiple epiphyseal dysplasia type 4'
'multiple epiphyseal dysplasia type 4' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0009188
epilepsy-telangiectasia syndrome
http://purl.obolibrary.org/obo/GARD_0002168 EquivalentTo 'epilepsy-telangiectasia syndrome'
http://purl.obolibrary.org/obo/MONDO_0009187
celiac disease-epilepsy-cerebral calcification syndrome
http://purl.obolibrary.org/obo/GARD_0002166 EquivalentTo 'celiac disease-epilepsy-cerebral calcification syndrome'
http://purl.obolibrary.org/obo/MONDO_0009196
Ermine phenotype
'Ermine phenotype' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C133085
http://purl.obolibrary.org/obo/MONDO_0010177
retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome
http://purl.obolibrary.org/obo/GARD_0004635 EquivalentTo 'retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome'
http://purl.obolibrary.org/obo/MONDO_0010179
isolated right ventricular hypoplasia
http://purl.obolibrary.org/obo/GARD_0004721 EquivalentTo 'isolated right ventricular hypoplasia'
http://purl.obolibrary.org/obo/MONDO_0009192
Wolcott-Rallison syndrome
'Wolcott-Rallison syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'Wolcott-Rallison syndrome' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0010172
VACTERL with hydrocephalus
http://purl.obolibrary.org/obo/GARD_0000272 EquivalentTo 'VACTERL with hydrocephalus'
http://purl.obolibrary.org/obo/MONDO_0010185
methylmalonic aciduria and homocystinuria type cblD
http://purl.obolibrary.org/obo/GARD_0003582 EquivalentTo 'methylmalonic aciduria and homocystinuria type cblD'
http://purl.obolibrary.org/obo/MONDO_0010188
familial isolated deficiency of vitamin E
http://purl.obolibrary.org/obo/GARD_0008595 EquivalentTo 'familial isolated deficiency of vitamin E'
http://purl.obolibrary.org/obo/MONDO_0010181
oculogastrointestinal muscular dystrophy
http://purl.obolibrary.org/obo/GARD_0005496 EquivalentTo 'oculogastrointestinal muscular dystrophy'
http://purl.obolibrary.org/obo/MONDO_0010184
methylmalonic aciduria and homocystinuria type cblC
http://purl.obolibrary.org/obo/GARD_0012128 EquivalentTo 'methylmalonic aciduria and homocystinuria type cblC'
http://purl.obolibrary.org/obo/MONDO_0010183
methylmalonic aciduria and homocystinuria type cblF
http://purl.obolibrary.org/obo/GARD_0003584 EquivalentTo 'methylmalonic aciduria and homocystinuria type cblF'
http://purl.obolibrary.org/obo/MONDO_0010196
Werner syndrome
http://purl.obolibrary.org/obo/GARD_0007885 EquivalentTo 'Werner syndrome'
http://purl.obolibrary.org/obo/MONDO_0010199
white forelock with malformations
'white forelock with malformations' SubClassOf 'rare genetic developmental defect during embryogenesis'
'white forelock with malformations' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
'white forelock with malformations' SubClassOf 'rare syndrome with cardiac malformations'
http://purl.obolibrary.org/obo/MONDO_0010198
Wernicke-Korsakoff syndrome
'Wernicke-Korsakoff syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_489978
http://purl.obolibrary.org/obo/MONDO_0010193
Weaver syndrome
http://purl.obolibrary.org/obo/GARD_0007878 EquivalentTo 'Weaver syndrome'
http://purl.obolibrary.org/obo/MONDO_0010195
Weissenbacher-Zweymuller syndrome
http://purl.obolibrary.org/obo/MESH_C535776 EquivalentTo 'Weissenbacher-Zweymuller syndrome'
'Weissenbacher-Zweymuller syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0004351 EquivalentTo 'Weissenbacher-Zweymuller syndrome'
http://purl.obolibrary.org/obo/MONDO_0005420
hypothyroidism
'hypothyroidism' SubClassOf 'thyroid gland disease'
'hypothyroidism' SubClassOf 'thyroid gland disease'
http://purl.obolibrary.org/obo/MONDO_0005442
type 1 diabetes nephropathy
'type 1 diabetes nephropathy' SubClassOf 'autoimmune disease'
http://purl.obolibrary.org/obo/MONDO_0005460
swine influenza
'swine influenza' SubClassOf 'realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_11320
'swine influenza' SubClassOf 'realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_11552
'swine influenza' EquivalentTo 'influenza' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_12845)
'swine influenza' EquivalentTo http://purl.obolibrary.org/obo/SCTID_442696006
'swine influenza' SubClassOf 'realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_12845
http://purl.obolibrary.org/obo/MONDO_0005497
bone development disease
'bone development disease' SubClassOf 'bone disease'
'bone development disease' SubClassOf 'bone disease'
http://purl.obolibrary.org/obo/MONDO_0005494
triple-negative breast carcinoma
'triple-negative breast carcinoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_706970001
http://purl.obolibrary.org/obo/MONDO_0019906
ring chromosome 11
'ring chromosome 11' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0002849
http://purl.obolibrary.org/obo/MONDO_0019903
ring chromosome 2
'ring chromosome 2' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C121981
http://purl.obolibrary.org/obo/MONDO_0019905
ring chromosome 9
'ring chromosome 9' EquivalentTo http://purl.obolibrary.org/obo/SCTID_60650002
http://purl.obolibrary.org/obo/MONDO_0019904
ring chromosome 3
'ring chromosome 3' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C121982
http://purl.obolibrary.org/obo/MONDO_0019933
acromegaly
'acromegaly' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001485
http://purl.obolibrary.org/obo/MONDO_0005305
epistaxis
'epistaxis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C26766
http://purl.obolibrary.org/obo/MONDO_0019946
ligneous conjunctivitis
http://purl.obolibrary.org/obo/GARD_0006187 EquivalentTo 'ligneous conjunctivitis'
http://purl.obolibrary.org/obo/MONDO_0019941
hereditary sensory and autonomic neuropathy type 2
http://purl.obolibrary.org/obo/GARD_0003976 EquivalentTo 'hereditary sensory and autonomic neuropathy type 2'
http://purl.obolibrary.org/obo/MONDO_0019940
hypertrichosis-acromegaloid facial appearance syndrome
'hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0005311
atherosclerosis
'atherosclerosis' SubClassOf 'arteriosclerotic cardiovascular disease'
'atherosclerosis' SubClassOf 'arteriosclerosis (disease)'
'atherosclerosis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35771
'atherosclerosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_441574008
http://purl.obolibrary.org/obo/MONDO_0019959
glucagonoma
'glucagonoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000441
http://purl.obolibrary.org/obo/GARD_0002496 EquivalentTo 'glucagonoma'
http://purl.obolibrary.org/obo/MONDO_0019954
pancreatic neuroendocrine tumor
http://purl.obolibrary.org/obo/GARD_0013034 EquivalentTo 'pancreatic neuroendocrine tumor'
http://purl.obolibrary.org/obo/MONDO_0019950
congenital muscular dystrophy
http://purl.obolibrary.org/obo/GARD_0009138 EquivalentTo 'congenital muscular dystrophy'
http://purl.obolibrary.org/obo/MONDO_0019952
congenital myopathy
http://purl.obolibrary.org/obo/GARD_0005898 EquivalentTo 'congenital myopathy'
http://purl.obolibrary.org/obo/MONDO_0019951
rigid spine syndrome
http://purl.obolibrary.org/obo/GARD_0004723 EquivalentTo 'rigid spine syndrome'
http://purl.obolibrary.org/obo/MONDO_0005327
hip fracture
'hip fracture' EquivalentTo http://purl.obolibrary.org/obo/SCTID_263225007
http://purl.obolibrary.org/obo/MONDO_0005320
tibia fracture
http://purl.obolibrary.org/obo/MESH_D013978 EquivalentTo 'tibia fracture'
http://purl.obolibrary.org/obo/MONDO_0019967
Kienbock disease
http://purl.obolibrary.org/obo/GARD_0009690 EquivalentTo 'Kienbock disease'
http://purl.obolibrary.org/obo/MONDO_0019960
VIPoma
http://purl.obolibrary.org/obo/GARD_0005493 EquivalentTo 'VIPoma'
'VIPoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000622
http://purl.obolibrary.org/obo/GARD_0003787 EquivalentTo 'VIPoma'
http://purl.obolibrary.org/obo/MONDO_0005333
hyperthyroxinemia
'hyperthyroxinemia' EquivalentTo http://www.orpha.net/ORDO/Orphanet_119576
http://purl.obolibrary.org/obo/MONDO_0019978
Robinow syndrome
'Robinow syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/GARD_0000312 EquivalentTo 'Robinow syndrome'
http://purl.obolibrary.org/obo/MONDO_0019972
dural sinus malformation
'dural sinus malformation' SubClassOf 'intracranial hemangioma'
'dural sinus malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
'dural sinus malformation' SubClassOf 'nervous system benign neoplasm'
http://purl.obolibrary.org/obo/MONDO_0005345
hypospadias (disease)
http://purl.obolibrary.org/obo/GARD_0002929 EquivalentTo 'hypospadias (disease)'
http://purl.obolibrary.org/obo/MONDO_0019982
bilateral multicystic dysplastic kidney
http://purl.obolibrary.org/obo/GARD_0009517 EquivalentTo 'bilateral multicystic dysplastic kidney'
http://purl.obolibrary.org/obo/MONDO_0005359
drug-induced liver injury
'drug-induced liver injury' EquivalentTo http://purl.obolibrary.org/obo/SCTID_197352008
http://www.orpha.net/ORDO/Orphanet_241
'dyschromatosis universalis' EquivalentTo http://www.orpha.net/ORDO/Orphanet_241
'dyschromatosis universalis hereditaria' EquivalentTo http://www.orpha.net/ORDO/Orphanet_241
http://purl.obolibrary.org/obo/MONDO_0019995
peripheral resistance to thyroid hormones
'peripheral resistance to thyroid hormones' EquivalentTo http://purl.obolibrary.org/obo/SCTID_718193005
http://purl.obolibrary.org/obo/MONDO_0019990
non-amyloid fibrillary glomerulopathy
http://purl.obolibrary.org/obo/GARD_0012740 EquivalentTo 'non-amyloid fibrillary glomerulopathy'
http://purl.obolibrary.org/obo/MONDO_0019991
immunotactoid glomerulopathy
'immunotactoid glomerulopathy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C96182
http://purl.obolibrary.org/obo/MONDO_0005369
carcinoid tumor (disease)
http://purl.obolibrary.org/obo/GARD_0009316 EquivalentTo 'carcinoid tumor (disease)'
http://purl.obolibrary.org/obo/MONDO_0005374
bone marrow neoplasm
http://purl.obolibrary.org/obo/MESH_D019046 EquivalentTo 'bone marrow neoplasm'
http://purl.obolibrary.org/obo/MONDO_0005388
primary biliary cholangitis
http://purl.obolibrary.org/obo/GARD_0007459 EquivalentTo 'primary biliary cholangitis'
http://purl.obolibrary.org/obo/MONDO_0005396
thoracic aortic aneurysm
'thoracic aortic aneurysm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_433068007
http://purl.obolibrary.org/obo/MONDO_0019804
tracheomalacia
http://purl.obolibrary.org/obo/GARD_0010515 EquivalentTo 'tracheomalacia'
http://purl.obolibrary.org/obo/MONDO_0019806
primary progressive aphasia
http://purl.obolibrary.org/obo/GARD_0008541 EquivalentTo 'primary progressive aphasia'
http://purl.obolibrary.org/obo/MONDO_0019805
twin to twin transfusion syndrome
'twin to twin transfusion syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C113824
http://purl.obolibrary.org/obo/GARD_0000325 EquivalentTo 'twin to twin transfusion syndrome'
http://purl.obolibrary.org/obo/MESH_D005330 EquivalentTo 'twin to twin transfusion syndrome'
http://purl.obolibrary.org/obo/MONDO_0019817
congenital mitral valve insufficiency and/or stenosis
http://purl.obolibrary.org/obo/ICD10_Q23 EquivalentTo 'congenital mitral valve insufficiency and/or stenosis'
http://purl.obolibrary.org/obo/MONDO_0019835
primary hypophysitis
'primary hypophysitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C132055
http://purl.obolibrary.org/obo/MONDO_0005207
choriocarcinoma (disease)
http://purl.obolibrary.org/obo/GARD_0006059 EquivalentTo 'choriocarcinoma (disease)'
http://purl.obolibrary.org/obo/MONDO_0005200
viral dilated cardiomyopathy
'viral dilated cardiomyopathy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_30496006
http://purl.obolibrary.org/obo/MONDO_0005213
uterine carcinoma
'uterine carcinoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_446022000
http://purl.obolibrary.org/obo/MONDO_0005215
vulvar carcinoma
'vulvar carcinoma' EquivalentTo http://www.orpha.net/ORDO/Orphanet_494418
http://purl.obolibrary.org/obo/MONDO_0019857
congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies
'congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies' EquivalentTo http://purl.obolibrary.org/obo/SCTID_717333002
http://purl.obolibrary.org/obo/MONDO_0005229
bacterial infectious disease with sepsis
'bacterial infectious disease with sepsis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_5758002
http://purl.obolibrary.org/obo/MONDO_0005224
acute myeloblastic leukemia without maturation
'acute myeloblastic leukemia without maturation' EquivalentTo http://purl.obolibrary.org/obo/SCTID_359640008
http://purl.obolibrary.org/obo/MONDO_0005220
collecting duct carcinoma
http://purl.obolibrary.org/obo/GARD_0009573 EquivalentTo 'collecting duct carcinoma'
http://purl.obolibrary.org/obo/MONDO_0019866
mosaic trisomy 5
http://purl.obolibrary.org/obo/MESH_C537762 EquivalentTo 'mosaic trisomy 5'
http://purl.obolibrary.org/obo/MONDO_0019868
mosaic trisomy 10
http://purl.obolibrary.org/obo/GARD_0005406 EquivalentTo 'mosaic trisomy 10'
http://purl.obolibrary.org/obo/MESH_C538292 EquivalentTo 'mosaic trisomy 10'
http://purl.obolibrary.org/obo/MONDO_0019867
mosaic trisomy 8
http://purl.obolibrary.org/obo/MESH_C537940 EquivalentTo 'mosaic trisomy 8'
http://purl.obolibrary.org/obo/MONDO_0019864
tetrasomy 21
'tetrasomy 21' SubClassOf http://purl.obolibrary.org/obo/MONDO_0030502
http://purl.obolibrary.org/obo/MONDO_0019863
acro-renal-ocular syndrome
'acro-renal-ocular syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0005233
non-small cell lung carcinoma (disease)
'non-small cell lung carcinoma (disease)' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254637007
http://purl.obolibrary.org/obo/MONDO_0005246
osteomyelitis (disease)
http://purl.obolibrary.org/obo/GARD_0007286 EquivalentTo 'osteomyelitis (disease)'
http://purl.obolibrary.org/obo/MONDO_0019884
distal trisomy 10q
'distal trisomy 10q' SubClassOf 'partial duplication of the long arm of chromosome X'
'distal trisomy 10q' SubClassOf 'obsolete partial duplication of the long arm of chromosome 10'
http://purl.obolibrary.org/obo/MONDO_0005259
Asperger syndrome
'Asperger syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_23560001
http://purl.obolibrary.org/obo/MONDO_0005250
placental villitis
'placental villitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_388604008
http://purl.obolibrary.org/obo/MONDO_0005262
central nervous system cyst (disease)
'central nervous system cyst (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C4657
http://purl.obolibrary.org/obo/MESH_D020863 EquivalentTo 'central nervous system cyst (disease)'
http://purl.obolibrary.org/obo/MONDO_0005277
migraine disorder
'migraine disorder' SubClassOf 'rare vascular disease'
'migraine disorder' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C89715
'migraine disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
'migraine disorder' SubClassOf 'brain disease'
http://purl.obolibrary.org/obo/MONDO_0005286
palatal neoplasm
'palatal neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_126805009
http://purl.obolibrary.org/obo/MONDO_0005293
flatfoot
'flatfoot' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34616
'flatfoot' EquivalentTo http://purl.obolibrary.org/obo/SCTID_53226007
http://purl.obolibrary.org/obo/MONDO_0019722
glomerular disease
'glomerular disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C120887
http://purl.obolibrary.org/obo/MONDO_0019734
juvenile polymyositis
'juvenile polymyositis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001988
http://purl.obolibrary.org/obo/MONDO_0019736
dense deposit disease
http://purl.obolibrary.org/obo/GARD_0008555 EquivalentTo 'dense deposit disease'
http://purl.obolibrary.org/obo/MONDO_0019735
polymyalgia rheumatica
http://purl.obolibrary.org/obo/GARD_0004704 EquivalentTo 'polymyalgia rheumatica'
http://purl.obolibrary.org/obo/MONDO_0005100
systemic sclerosis
http://purl.obolibrary.org/obo/GARD_0009748 EquivalentTo 'systemic sclerosis'
http://purl.obolibrary.org/obo/MONDO_0005102
undifferentiated (embryonal) sarcoma
http://purl.obolibrary.org/obo/GARD_0008650 EquivalentTo 'undifferentiated (embryonal) sarcoma'
http://purl.obolibrary.org/obo/MONDO_0019745
cystinuria type A
http://purl.obolibrary.org/obo/MESH_C531664 EquivalentTo 'cystinuria type A'
http://purl.obolibrary.org/obo/MONDO_0005119
anthrax infection
'anthrax infection' EquivalentTo http://purl.obolibrary.org/obo/SCTID_409498004
'anthrax infection' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84565
http://purl.obolibrary.org/obo/MONDO_0005118
human granulocytic anaplasmosis
http://purl.obolibrary.org/obo/GARD_0000071 EquivalentTo 'human granulocytic anaplasmosis'
http://purl.obolibrary.org/obo/MONDO_0005116
Whipple disease
http://purl.obolibrary.org/obo/GARD_0007889 EquivalentTo 'Whipple disease'
'Whipple disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
http://purl.obolibrary.org/obo/MONDO_0019755
developmental defect during embryogenesis
'developmental defect during embryogenesis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_400038003
http://purl.obolibrary.org/obo/MONDO_0019754
multicentric Castleman disease
http://purl.obolibrary.org/obo/GARD_0009644 EquivalentTo 'multicentric Castleman disease'
http://purl.obolibrary.org/obo/MONDO_0019753
localized Castleman disease
http://purl.obolibrary.org/obo/GARD_0006005 EquivalentTo 'localized Castleman disease'
http://purl.obolibrary.org/obo/MONDO_0005124
leprosy
http://purl.obolibrary.org/obo/GARD_0006886 EquivalentTo 'leprosy'
http://purl.obolibrary.org/obo/MONDO_0005136
malaria
'malaria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
http://purl.obolibrary.org/obo/MONDO_0019778
Smith-Fineman-Myers syndrome
http://purl.obolibrary.org/obo/GARD_0003521 EquivalentTo 'Smith-Fineman-Myers syndrome'
http://purl.obolibrary.org/obo/MONDO_0019773
myelomeningocele
'myelomeningocele' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001369
http://purl.obolibrary.org/obo/MONDO_0019775
Chudley-Lowry-Hoar syndrome
http://purl.obolibrary.org/obo/GARD_0001357 EquivalentTo 'Chudley-Lowry-Hoar syndrome'
http://purl.obolibrary.org/obo/MONDO_0019772
blepharospasm-oromandibular dystonia syndrome
http://purl.obolibrary.org/obo/GARD_0007008 EquivalentTo 'blepharospasm-oromandibular dystonia syndrome'
http://purl.obolibrary.org/obo/MONDO_0019790
neuroleptic malignant syndrome
'neuroleptic malignant syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001379
http://purl.obolibrary.org/obo/MONDO_0005143
pseudomonas aeruginosa PA14 infection
'pseudomonas aeruginosa PA14 infection' SubClassOf 'pseudomonas infection'
'pseudomonas aeruginosa PA14 infection' EquivalentTo 'infectious disease' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_652611)
'pseudomonas aeruginosa PA14 infection' SubClassOf http://purl.obolibrary.org/obo/MONDO_0040732
'pseudomonas aeruginosa PA14 infection' SubClassOf 'realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_652611
http://purl.obolibrary.org/obo/MONDO_0005142
pseudomonas aeruginosa CF5 infection
'pseudomonas aeruginosa CF5 infection' SubClassOf 'pseudomonas infection'
'pseudomonas aeruginosa CF5 infection' SubClassOf http://purl.obolibrary.org/obo/MONDO_0040732
'pseudomonas aeruginosa CF5 infection' SubClassOf 'realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_1402491
'pseudomonas aeruginosa CF5 infection' EquivalentTo 'infectious disease' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_1402491)
http://purl.obolibrary.org/obo/MONDO_0019784
12q14 microdeletion syndrome
'12q14 microdeletion syndrome' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0019787
autoimmune enteropathy
http://purl.obolibrary.org/obo/GARD_0008689 EquivalentTo 'autoimmune enteropathy'
http://purl.obolibrary.org/obo/MONDO_0005154
liver disease
'liver disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3196
http://purl.obolibrary.org/obo/MONDO_0005150
age-related macular degeneration
'age-related macular degeneration' EquivalentTo http://purl.obolibrary.org/obo/SCTID_267718000
http://purl.obolibrary.org/obo/MONDO_0019799
hepatoerythropoietic porphyria
http://purl.obolibrary.org/obo/GARD_0006169 EquivalentTo 'hepatoerythropoietic porphyria'
http://purl.obolibrary.org/obo/MONDO_0019796
acrocephalosyndactyly
http://purl.obolibrary.org/obo/GARD_0000486 EquivalentTo 'acrocephalosyndactyly'
http://purl.obolibrary.org/obo/MONDO_0019791
recessive mitochondrial ataxia syndrome
'recessive mitochondrial ataxia syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008816
http://purl.obolibrary.org/obo/MONDO_0005164
fibrosarcoma (disease)
http://purl.obolibrary.org/obo/GARD_0002327 EquivalentTo 'fibrosarcoma (disease)'
http://purl.obolibrary.org/obo/MONDO_0005181
progressive external ophthalmoplegia
'progressive external ophthalmoplegia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_46252003
http://purl.obolibrary.org/obo/MONDO_0005193
prostate intraepithelial neoplasia
'prostate intraepithelial neoplasia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254901000
'prostate intraepithelial neoplasia' EquivalentTo http://www.orpha.net/ORDO/Orphanet_240651
http://purl.obolibrary.org/obo/MONDO_0005195
septic peritonitis
'septic peritonitis' EquivalentTo 'peritonitis' and ('disease arises from feature' some http://purl.obolibrary.org/obo/HP_0100806)
'septic peritonitis' SubClassOf 'disease arises from feature' some http://purl.obolibrary.org/obo/HP_0100806
'septic peritonitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
http://purl.obolibrary.org/obo/MONDO_0005194
rotavirus infection
'rotavirus infection' SubClassOf 'disease affecting anatomical system'
'rotavirus infection' SubClassOf 'disease has location' some http://purl.obolibrary.org/obo/UBERON_0001007
'rotavirus infection' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
http://purl.obolibrary.org/obo/MONDO_0019609
Zellweger syndrome
http://purl.obolibrary.org/obo/GARD_0007917 EquivalentTo 'Zellweger syndrome'
http://purl.obolibrary.org/obo/MONDO_0019606
simple cryoglobulinemia
'simple cryoglobulinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0019618
Sheehan syndrome
http://purl.obolibrary.org/obo/GARD_0007630 EquivalentTo 'Sheehan syndrome'
http://purl.obolibrary.org/obo/MONDO_0019613
non-functioning pituitary adenoma
'non-functioning pituitary adenoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008516
http://purl.obolibrary.org/obo/MONDO_0019610
Zollinger-Ellison syndrome
http://purl.obolibrary.org/obo/GARD_0007918 EquivalentTo 'Zollinger-Ellison syndrome'
http://purl.obolibrary.org/obo/MONDO_0019623
hereditary angioedema
http://purl.obolibrary.org/obo/GARD_0005979 EquivalentTo 'hereditary angioedema'
http://purl.obolibrary.org/obo/MONDO_0019625
familial thoracic aortic aneurysm and aortic dissection
http://purl.obolibrary.org/obo/GARD_0002249 EquivalentTo 'familial thoracic aortic aneurysm and aortic dissection'
http://purl.obolibrary.org/obo/MONDO_0019635
idiopathic achalasia
http://purl.obolibrary.org/obo/GARD_0005708 EquivalentTo 'idiopathic achalasia'
http://purl.obolibrary.org/obo/MONDO_0019632
lyme disease
'lyme disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008510
http://purl.obolibrary.org/obo/MONDO_0019640
posterior urethral valve
http://purl.obolibrary.org/obo/GARD_0007439 EquivalentTo 'posterior urethral valve'
http://purl.obolibrary.org/obo/MONDO_0005026
endometrioid adenocarcinoma
'endometrioid adenocarcinoma' SubClassOf 'adenocarcinoma'
'endometrioid adenocarcinoma' SubClassOf 'adenocarcinoma'
http://purl.obolibrary.org/obo/MONDO_0019668
adenoma of pancreas
http://purl.obolibrary.org/obo/GARD_0004204 EquivalentTo 'adenoma of pancreas'
http://purl.obolibrary.org/obo/MONDO_0019669
hypochondrogenesis
'hypochondrogenesis' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0019664
short rib-polydactyly syndrome, Verma-Naumoff type
http://purl.obolibrary.org/obo/GARD_0004835 EquivalentTo 'short rib-polydactyly syndrome, Verma-Naumoff type'
http://purl.obolibrary.org/obo/MONDO_0019663
short rib-polydactyly syndrome, Saldino-Noonan type
http://purl.obolibrary.org/obo/GARD_0004834 EquivalentTo 'short rib-polydactyly syndrome, Saldino-Noonan type'
http://purl.obolibrary.org/obo/MONDO_0019666
spondyloepimetaphyseal dysplasia, PAPSS2 type
'spondyloepimetaphyseal dysplasia, PAPSS2 type' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0019662
short rib-polydactyly syndrome, Majewski type
http://purl.obolibrary.org/obo/GARD_0004833 EquivalentTo 'short rib-polydactyly syndrome, Majewski type'
http://purl.obolibrary.org/obo/MONDO_0019680
genochondromatosis type 2
'genochondromatosis type 2' SubClassOf 'rare genetic bone disease'
'genochondromatosis type 2' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0005036
gastric adenocarcinoma
'gastric adenocarcinoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_408647009
http://purl.obolibrary.org/obo/MONDO_0005030
fetal growth restriction
http://purl.obolibrary.org/obo/MESH_D005317 EquivalentTo 'fetal growth restriction'
http://purl.obolibrary.org/obo/MONDO_0019678
brachydactyly type A5
http://purl.obolibrary.org/obo/MESH_C537091 EquivalentTo 'brachydactyly type A5'
http://purl.obolibrary.org/obo/MONDO_0019675
spondyloepimetaphyseal dysplasia with joint laxity
http://purl.obolibrary.org/obo/GARD_0004982 EquivalentTo 'spondyloepimetaphyseal dysplasia with joint laxity'
http://purl.obolibrary.org/obo/MONDO_0019677
brachydactyly type E
http://purl.obolibrary.org/obo/GARD_0000987 EquivalentTo 'brachydactyly type E'
http://purl.obolibrary.org/obo/MONDO_0019676
brachydactyly type B
http://purl.obolibrary.org/obo/GARD_0000985 EquivalentTo 'brachydactyly type B'
http://purl.obolibrary.org/obo/MONDO_0019671
radial hemimelia
http://purl.obolibrary.org/obo/GARD_0000225 EquivalentTo 'radial hemimelia'
http://purl.obolibrary.org/obo/MONDO_0005049
intracranial hemorrhage
http://purl.obolibrary.org/obo/MESH_D020300 EquivalentTo 'intracranial hemorrhage'
http://purl.obolibrary.org/obo/MONDO_0005044
hypertension
'hypertension' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3117
http://purl.obolibrary.org/obo/MONDO_0005047
infertility disorder
'infertility disorder' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3836
http://purl.obolibrary.org/obo/MONDO_0005040
germ cell tumor
http://purl.obolibrary.org/obo/GARD_0013022 EquivalentTo 'germ cell tumor'
http://purl.obolibrary.org/obo/MONDO_0019683
syndactyly type 2
http://purl.obolibrary.org/obo/GARD_0005087 EquivalentTo 'syndactyly type 2'
http://purl.obolibrary.org/obo/MONDO_0005055
Kaposi's sarcoma (disease)
http://purl.obolibrary.org/obo/GARD_0006814 EquivalentTo 'Kaposi's sarcoma (disease)'
http://purl.obolibrary.org/obo/MONDO_0005053
ischemic disease
'ischemic disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34738
http://purl.obolibrary.org/obo/MONDO_0005061
lung adenocarcinoma
'lung adenocarcinoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254626006
http://purl.obolibrary.org/obo/MONDO_0019696
acromesomelic dysplasia
http://purl.obolibrary.org/obo/GARD_0000006 EquivalentTo 'acromesomelic dysplasia'
http://purl.obolibrary.org/obo/MONDO_0005075
thyroid gland papillary carcinoma
http://purl.obolibrary.org/obo/GARD_0012027 EquivalentTo 'thyroid gland papillary carcinoma'
http://purl.obolibrary.org/obo/MONDO_0005080
portal hypertension
'portal hypertension' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3119
http://purl.obolibrary.org/obo/MONDO_0005086
renal cell carcinoma (disease)
http://purl.obolibrary.org/obo/GARD_0013215 EquivalentTo 'renal cell carcinoma (disease)'
http://purl.obolibrary.org/obo/MONDO_0005099
subarachnoid hemorrhage (disease)
'subarachnoid hemorrhage (disease)' SubClassOf 'vascular disease'
'subarachnoid hemorrhage (disease)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0005095
spondyloarthropathy
http://purl.obolibrary.org/obo/GARD_0004971 EquivalentTo 'spondyloarthropathy'
http://purl.obolibrary.org/obo/MONDO_0019509
cutaneous leukocytoclastic angiitis
http://purl.obolibrary.org/obo/GARD_0007851 EquivalentTo 'cutaneous leukocytoclastic angiitis'
http://purl.obolibrary.org/obo/MONDO_0019508
van der Woude syndrome
http://purl.obolibrary.org/obo/GARD_0008414 EquivalentTo 'van der Woude syndrome'
'van der Woude syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0019501
Usher syndrome
http://purl.obolibrary.org/obo/GARD_0007843 EquivalentTo 'Usher syndrome'
http://purl.obolibrary.org/obo/MONDO_0019518
Waardenburg-Shah syndrome
'Waardenburg-Shah syndrome' SubClassOf 'rare genetic skin disease'
http://purl.obolibrary.org/obo/MONDO_0019516
exudative vitreoretinopathy
http://purl.obolibrary.org/obo/GARD_0001613 EquivalentTo 'exudative vitreoretinopathy'
http://purl.obolibrary.org/obo/MONDO_0019510
autosomal dominant medullary cystic kidney disease without hyperuricemia
http://purl.obolibrary.org/obo/GARD_0007002 EquivalentTo 'autosomal dominant medullary cystic kidney disease without hyperuricemia'
http://purl.obolibrary.org/obo/MONDO_0019511
autosomal dominant medullary cystic kidney disease with hyperuricemia
http://purl.obolibrary.org/obo/GARD_0010679 EquivalentTo 'autosomal dominant medullary cystic kidney disease with hyperuricemia'
http://purl.obolibrary.org/obo/MONDO_0019525
tetrasomy X
'tetrasomy X' SubClassOf http://purl.obolibrary.org/obo/MONDO_0030502
http://purl.obolibrary.org/obo/MONDO_0019524
infantile Bartter syndrome with sensorineural deafness
http://purl.obolibrary.org/obo/GARD_0010508 EquivalentTo 'infantile Bartter syndrome with sensorineural deafness'
http://purl.obolibrary.org/obo/MONDO_0019527
undifferentiated connective tissue syndrome
'undifferentiated connective tissue syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_239918008
http://purl.obolibrary.org/obo/MONDO_0019523
Walker-Warburg syndrome
http://purl.obolibrary.org/obo/GARD_0002599 EquivalentTo 'Walker-Warburg syndrome'
http://purl.obolibrary.org/obo/MONDO_0020531
long chain acyl-CoA dehydrogenase deficiency
http://purl.obolibrary.org/obo/GARD_0009700 EquivalentTo 'long chain acyl-CoA dehydrogenase deficiency'
'long chain acyl-CoA dehydrogenase deficiency' EquivalentTo http://purl.obolibrary.org/obo/SCTID_237996001
http://purl.obolibrary.org/obo/MONDO_0020530
mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
http://purl.obolibrary.org/obo/MESH_C535530 EquivalentTo 'mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency'
http://purl.obolibrary.org/obo/GARD_0003011 EquivalentTo 'mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency'
http://purl.obolibrary.org/obo/MONDO_0019538
Gaisbock syndrome
http://purl.obolibrary.org/obo/GARD_0008402 EquivalentTo 'Gaisbock syndrome'
'Gaisbock syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C27174
http://purl.obolibrary.org/obo/MONDO_0019532
autoimmune hemolytic anemia, warm type
http://purl.obolibrary.org/obo/GARD_0007876 EquivalentTo 'autoimmune hemolytic anemia, warm type'
http://purl.obolibrary.org/obo/MONDO_0019533
paroxysmal cold hemoglobinuria
http://purl.obolibrary.org/obo/GARD_0007335 EquivalentTo 'paroxysmal cold hemoglobinuria'
http://purl.obolibrary.org/obo/MONDO_0020528
ACTH-dependent Cushing syndrome
'ACTH-dependent Cushing syndrome' SubClassOf 'rare female infertility due to an adrenal disorder'
'ACTH-dependent Cushing syndrome' SubClassOf 'rare male infertility due to adrenal disorder'
http://purl.obolibrary.org/obo/MONDO_0020525
transient neonatal diabetes mellitus (disease)
http://purl.obolibrary.org/obo/GARD_0001839 EquivalentTo 'transient neonatal diabetes mellitus (disease)'
http://purl.obolibrary.org/obo/MONDO_0019548
autosomal dominant intermediate Charcot-Marie-tooth disease
http://purl.obolibrary.org/obo/GARD_0012436 EquivalentTo 'autosomal dominant intermediate Charcot-Marie-tooth disease'
http://purl.obolibrary.org/obo/MONDO_0020552
placental site trophoblastic tumor
http://purl.obolibrary.org/obo/MESH_D018245 EquivalentTo 'placental site trophoblastic tumor'
http://purl.obolibrary.org/obo/MONDO_0020558
autosomal dominant Charcot-Marie-tooth disease type 2K
'autosomal dominant Charcot-Marie-tooth disease type 2K' EquivalentTo http://purl.obolibrary.org/obo/SCTID_719512003
http://purl.obolibrary.org/obo/MONDO_0019556
pressure-induced localized lipoatrophy
'pressure-induced localized lipoatrophy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_238898001
http://purl.obolibrary.org/obo/MONDO_0019570
Cockayne syndrome type 2
http://purl.obolibrary.org/obo/GARD_0001420 EquivalentTo 'Cockayne syndrome type 2'
http://purl.obolibrary.org/obo/MONDO_0020541
maligant granulosa cell tumor of ovary
'maligant granulosa cell tumor of ovary' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254861002
http://purl.obolibrary.org/obo/MONDO_0020540
ovarian gynandroblastoma
'ovarian gynandroblastoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000422
'ovarian gynandroblastoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254867003
http://purl.obolibrary.org/obo/MONDO_0019565
hereditary von Willebrand disease
http://purl.obolibrary.org/obo/MESH_C531844 EquivalentTo 'hereditary von Willebrand disease'
http://purl.obolibrary.org/obo/MONDO_0019567
Ehlers-Danlos syndrome type 1
'Ehlers-Danlos syndrome type 1' EquivalentTo http://purl.obolibrary.org/obo/SCTID_83470009
http://purl.obolibrary.org/obo/MONDO_0019561
lupus erythematosus panniculitis
'lupus erythematosus panniculitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C82884
http://purl.obolibrary.org/obo/MONDO_0019563
CREST syndrome
http://purl.obolibrary.org/obo/GARD_0012430 EquivalentTo 'CREST syndrome'
http://purl.obolibrary.org/obo/MONDO_0019562
localized scleroderma
http://purl.obolibrary.org/obo/GARD_0007058 EquivalentTo 'localized scleroderma'
http://purl.obolibrary.org/obo/MONDO_0020573
genetic predisposition to disease
'genetic predisposition to disease' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0042489 and ('has modifier' some 'genetic and inherited')
'genetic predisposition to disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042489
http://purl.obolibrary.org/obo/MONDO_0020572
complex regional pain syndrome type 2
'complex regional pain syndrome type 2' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C121572
http://purl.obolibrary.org/obo/MONDO_0019577
anonychia-onychodystrophy syndrome
http://purl.obolibrary.org/obo/MESH_C536378 EquivalentTo 'anonychia-onychodystrophy syndrome'
http://purl.obolibrary.org/obo/MONDO_0019572
autosomal recessive cutis laxa type 1
'autosomal recessive cutis laxa type 1' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254222002
'autosomal recessive cutis laxa type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/GARD_0008480 EquivalentTo 'autosomal recessive cutis laxa type 1'
http://purl.obolibrary.org/obo/MONDO_0019573
autosomal recessive cutis laxa type 2
'autosomal recessive cutis laxa type 2' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0020560
atypical teratoid rhabdoid tumor
'atypical teratoid rhabdoid tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1002008
http://purl.obolibrary.org/obo/MONDO_0019586
X-linked nonsyndromic deafness
http://purl.obolibrary.org/obo/GARD_0001715 EquivalentTo 'X-linked nonsyndromic deafness'
http://purl.obolibrary.org/obo/MONDO_0019588
autosomal recessive nonsyndromic deafness
http://purl.obolibrary.org/obo/GARD_0001710 EquivalentTo 'autosomal recessive nonsyndromic deafness'
http://purl.obolibrary.org/obo/MONDO_0019408
Astley-Kendall dysplasia
http://purl.obolibrary.org/obo/GARD_0009220 EquivalentTo 'Astley-Kendall dysplasia'
http://purl.obolibrary.org/obo/MONDO_0019409
idiopathic juvenile osteoporosis
'idiopathic juvenile osteoporosis' SubClassOf 'genetic systemic or rheumatologic disease'
http://purl.obolibrary.org/obo/GARD_0006760 EquivalentTo 'idiopathic juvenile osteoporosis'
'idiopathic juvenile osteoporosis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C119996
http://purl.obolibrary.org/obo/MONDO_0019403
congenital dyserythropoietic anemia
http://purl.obolibrary.org/obo/GARD_0001999 EquivalentTo 'congenital dyserythropoietic anemia'
http://purl.obolibrary.org/obo/MONDO_0019402
beta thalassemia
http://purl.obolibrary.org/obo/GARD_0000871 EquivalentTo 'beta thalassemia'
http://purl.obolibrary.org/obo/MONDO_0019411
genochondromatosis type 1
'genochondromatosis type 1' SubClassOf 'rare genetic bone disease'
'genochondromatosis type 1' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0020404
Shone complex
'Shone complex' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C99058
http://purl.obolibrary.org/obo/MONDO_0019426
X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome
http://purl.obolibrary.org/obo/GARD_0012489 EquivalentTo 'X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome'
http://purl.obolibrary.org/obo/MONDO_0019428
Fried syndrome
'Fried syndrome' SubClassOf 'X-linked syndromic intellectual disability'
http://purl.obolibrary.org/obo/MONDO_0020437
atrial septal defect, ostium primum type
http://purl.obolibrary.org/obo/MESH_C548006 EquivalentTo 'atrial septal defect, ostium primum type'
http://purl.obolibrary.org/obo/GARD_0010695 EquivalentTo 'atrial septal defect, ostium primum type'
http://purl.obolibrary.org/obo/MONDO_0020436
atrial septal defect, sinus venosus type
http://purl.obolibrary.org/obo/MESH_C548009 EquivalentTo 'atrial septal defect, sinus venosus type'
http://purl.obolibrary.org/obo/GARD_0010696 EquivalentTo 'atrial septal defect, sinus venosus type'
http://purl.obolibrary.org/obo/MONDO_0020434
atrial septal defect, ostium secundum type
http://purl.obolibrary.org/obo/GARD_0005865 EquivalentTo 'atrial septal defect, ostium secundum type'
http://purl.obolibrary.org/obo/MONDO_0019438
AL amyloidosis
http://purl.obolibrary.org/obo/GARD_0005797 EquivalentTo 'AL amyloidosis'
http://purl.obolibrary.org/obo/MONDO_0019433
oligoarticular juvenile idiopathic arthritis
'oligoarticular juvenile idiopathic arthritis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1002019
http://purl.obolibrary.org/obo/GARD_0004261 EquivalentTo 'oligoarticular juvenile idiopathic arthritis'
http://purl.obolibrary.org/obo/MONDO_0019434
systemic-onset juvenile idiopathic arthritis
'systemic-onset juvenile idiopathic arthritis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001999
http://purl.obolibrary.org/obo/MONDO_0020429
cor triatriatum dexter (disease)
http://purl.obolibrary.org/obo/GARD_0012483 EquivalentTo 'cor triatriatum dexter (disease)'
http://purl.obolibrary.org/obo/MONDO_0019444
Trichinellosis
http://purl.obolibrary.org/obo/GARD_0005250 EquivalentTo 'Trichinellosis'
http://purl.obolibrary.org/obo/MONDO_0019446
localized lichen myxedematosus
http://purl.obolibrary.org/obo/GARD_0007321 EquivalentTo 'localized lichen myxedematosus'
http://purl.obolibrary.org/obo/MONDO_0019440
wild type ABeta2M amyloidosis
'wild type ABeta2M amyloidosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_32599008
http://purl.obolibrary.org/obo/MONDO_0019460
acute leukemia of ambiguous lineage
http://purl.obolibrary.org/obo/GARD_0008638 EquivalentTo 'acute leukemia of ambiguous lineage'
http://purl.obolibrary.org/obo/MONDO_0020453
congenital partial pulmonary venous return anomaly
'congenital partial pulmonary venous return anomaly' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C99004
http://purl.obolibrary.org/obo/MONDO_0019458
acute basophilic leukemia
'acute basophilic leukemia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_307592006
http://purl.obolibrary.org/obo/MONDO_0019456
acute myeloid leukemia with multilineage dysplasia
http://purl.obolibrary.org/obo/GARD_0012761 EquivalentTo 'acute myeloid leukemia with multilineage dysplasia'
http://purl.obolibrary.org/obo/MONDO_0019471
adult T-cell leukemia/lymphoma
http://purl.obolibrary.org/obo/GARD_0013103 EquivalentTo 'adult T-cell leukemia/lymphoma'
http://purl.obolibrary.org/obo/MONDO_0019469
T-cell large granular lymphocyte leukemia
http://purl.obolibrary.org/obo/GARD_0009812 EquivalentTo 'T-cell large granular lymphocyte leukemia'
http://purl.obolibrary.org/obo/MONDO_0019465
nodal marginal zone B-cell lymphoma
'nodal marginal zone B-cell lymphoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_277623009
http://purl.obolibrary.org/obo/MONDO_0019468
T-cell prolymphocytic leukemia
http://purl.obolibrary.org/obo/GARD_0008224 EquivalentTo 'T-cell prolymphocytic leukemia'
http://purl.obolibrary.org/obo/MONDO_0019464
heavy chain disease
'heavy chain disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001341
http://purl.obolibrary.org/obo/MONDO_0020470
49,XYYYY syndrome
'49,XYYYY syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0020479
pituitary gigantism
http://purl.obolibrary.org/obo/GARD_0006506 EquivalentTo 'pituitary gigantism'
http://purl.obolibrary.org/obo/MONDO_0019472
extranodal nasal NK/T cell lymphoma
http://purl.obolibrary.org/obo/GARD_0013270 EquivalentTo 'extranodal nasal NK/T cell lymphoma'
http://purl.obolibrary.org/obo/MONDO_0019475
subcutaneous panniculitis-like T-cell lymphoma
http://purl.obolibrary.org/obo/GARD_0010193 EquivalentTo 'subcutaneous panniculitis-like T-cell lymphoma'
http://purl.obolibrary.org/obo/MONDO_0019492
desmoid tumor
'desmoid tumor' SubClassOf 'fibromatosis'
http://purl.obolibrary.org/obo/MONDO_0020469
48,XYYY syndrome
http://purl.obolibrary.org/obo/GARD_0011985 EquivalentTo '48,XYYY syndrome'
http://purl.obolibrary.org/obo/MONDO_0020467
mosaic monosomy X
'mosaic monosomy X' EquivalentTo http://purl.obolibrary.org/obo/SCTID_710010005
http://purl.obolibrary.org/obo/MONDO_0020491
subcortical band heterotopia
http://purl.obolibrary.org/obo/GARD_0001904 EquivalentTo 'subcortical band heterotopia'
http://purl.obolibrary.org/obo/MONDO_0019499
Turner syndrome
http://purl.obolibrary.org/obo/GARD_0002459 EquivalentTo 'Turner syndrome'
http://purl.obolibrary.org/obo/MONDO_0019498
tungiasis
'tungiasis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001445
http://purl.obolibrary.org/obo/MONDO_0019496
neuroendocrine neoplasm
'neuroendocrine neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001901
http://purl.obolibrary.org/obo/MONDO_0020480
sulfite oxidase deficiency due to molybdenum cofactor deficiency
http://purl.obolibrary.org/obo/GARD_0003705 EquivalentTo 'sulfite oxidase deficiency due to molybdenum cofactor deficiency'
http://purl.obolibrary.org/obo/MONDO_0020485
King-Denborough syndrome
'King-Denborough syndrome' SubClassOf 'rare disease with malignant hyperthermia'
http://purl.obolibrary.org/obo/GARD_0008433 EquivalentTo 'King-Denborough syndrome'
'King-Denborough syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0009905
urban-Rogers-Meyer syndrome
http://purl.obolibrary.org/obo/GARD_0005426 EquivalentTo 'urban-Rogers-Meyer syndrome'
http://purl.obolibrary.org/obo/MONDO_0009903
postaxial acrofacial dysostosis
'postaxial acrofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0008410 EquivalentTo 'postaxial acrofacial dysostosis'
http://purl.obolibrary.org/obo/MONDO_0009902
cutaneous porphyria
http://purl.obolibrary.org/obo/GARD_0004446 EquivalentTo 'cutaneous porphyria'
'cutaneous porphyria' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84697
http://purl.obolibrary.org/obo/MONDO_0009901
Bartsocas-Papas syndrome
'Bartsocas-Papas syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043009
http://purl.obolibrary.org/obo/GARD_0004436 EquivalentTo 'Bartsocas-Papas syndrome'
http://purl.obolibrary.org/obo/MONDO_0009900
polysyndactyly-cardiac malformation syndrome
'polysyndactyly-cardiac malformation syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/GARD_0004428 EquivalentTo 'polysyndactyly-cardiac malformation syndrome'
'polysyndactyly-cardiac malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0009908
dehydratase deficiency
http://purl.obolibrary.org/obo/GARD_0002843 EquivalentTo 'dehydratase deficiency'
http://purl.obolibrary.org/obo/MONDO_0009907
Prepapillary vascular Loops
'Prepapillary vascular Loops' EquivalentTo http://purl.obolibrary.org/obo/SCTID_424728002
http://purl.obolibrary.org/obo/MONDO_0009916
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
'46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C120203
http://purl.obolibrary.org/obo/GARD_0005659 EquivalentTo '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency'
http://purl.obolibrary.org/obo/MONDO_0010908
loose anagen syndrome
http://purl.obolibrary.org/obo/GARD_0003287 EquivalentTo 'loose anagen syndrome'
http://purl.obolibrary.org/obo/MONDO_0009910
Wiedemann-Rautenstrauch syndrome
http://purl.obolibrary.org/obo/GARD_0000330 EquivalentTo 'Wiedemann-Rautenstrauch syndrome'
http://purl.obolibrary.org/obo/MONDO_0009919
peroxisomal acyl-CoA oxidase deficiency
http://purl.obolibrary.org/obo/GARD_0004543 EquivalentTo 'peroxisomal acyl-CoA oxidase deficiency'
http://purl.obolibrary.org/obo/MONDO_0009918
fundus dystrophy, pseudoinflammatory, recessive form
http://purl.obolibrary.org/obo/GARD_0009633 EquivalentTo 'fundus dystrophy, pseudoinflammatory, recessive form'
http://purl.obolibrary.org/obo/MONDO_0010917
CCAL1
http://purl.obolibrary.org/obo/GARD_0006048 EquivalentTo 'CCAL1'
http://purl.obolibrary.org/obo/MONDO_0009927
3MC syndrome 2
'3MC syndrome 2' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001977
http://purl.obolibrary.org/obo/MONDO_0009926
autosomal recessive multiple pterygium syndrome
'autosomal recessive multiple pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0009925
inherited pseudoxanthoma elasticum
'inherited pseudoxanthoma elasticum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0009923
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
http://purl.obolibrary.org/obo/GARD_0005680 EquivalentTo '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency'
http://purl.obolibrary.org/obo/MONDO_0009921
holoprosencephaly-postaxial polydactyly syndrome
http://purl.obolibrary.org/obo/GARD_0000344 EquivalentTo 'holoprosencephaly-postaxial polydactyly syndrome'
http://purl.obolibrary.org/obo/MONDO_0010911
prolactin-producing pituitary gland adenoma
http://purl.obolibrary.org/obo/GARD_0004508 EquivalentTo 'prolactin-producing pituitary gland adenoma'
http://purl.obolibrary.org/obo/MONDO_0010913
Caroli disease
'Caroli disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001286
http://purl.obolibrary.org/obo/MONDO_0010914
carnitine palmitoyl transferase II deficiency, severe infantile form
http://purl.obolibrary.org/obo/MESH_C563462 EquivalentTo 'carnitine palmitoyl transferase II deficiency, severe infantile form'
http://purl.obolibrary.org/obo/MONDO_0009929
neonatal acute respiratory distress due to SP-b deficiency
http://purl.obolibrary.org/obo/GARD_0004595 EquivalentTo 'neonatal acute respiratory distress due to SP-b deficiency'
http://purl.obolibrary.org/obo/MONDO_0010927
OFC3
http://purl.obolibrary.org/obo/MESH_C563448 EquivalentTo 'OFC3'
http://purl.obolibrary.org/obo/MONDO_0009938
pulmonic stenosis (disease)
http://purl.obolibrary.org/obo/GARD_0010071 EquivalentTo 'pulmonic stenosis (disease)'
http://purl.obolibrary.org/obo/MONDO_0009937
pulmonary venoocclusive disease
'pulmonary venoocclusive disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C85039
http://purl.obolibrary.org/obo/MONDO_0009933
congenital pulmonary lymphangiectasia
'congenital pulmonary lymphangiectasia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_45142002
http://purl.obolibrary.org/obo/MONDO_0009931
pulmonary atresia-intact ventricular septum syndrome
http://purl.obolibrary.org/obo/GARD_0004600 EquivalentTo 'pulmonary atresia-intact ventricular septum syndrome'
http://purl.obolibrary.org/obo/MONDO_0010920
microtia
http://purl.obolibrary.org/obo/GARD_0000431 EquivalentTo 'microtia'
http://purl.obolibrary.org/obo/MONDO_0009930
pulmonary arteriovenous malformation (disease)
http://purl.obolibrary.org/obo/GARD_0004584 EquivalentTo 'pulmonary arteriovenous malformation (disease)'
http://purl.obolibrary.org/obo/MONDO_0010921
nasal dermoid cyst
'nasal dermoid cyst' SubClassOf 'inherited genetic disease'
'nasal dermoid cyst' SubClassOf 'cysts and fistulae of the face and oral cavity'
'nasal dermoid cyst' SubClassOf 'rare nervous system tumor'
'nasal dermoid cyst' SubClassOf 'rare genetic respiratory disease'
'nasal dermoid cyst' SubClassOf 'genetic nervous system disorder'
'nasal dermoid cyst' EquivalentTo 'dermoid cyst' and ('disease has location' some http://purl.obolibrary.org/obo/UBERON_0000004)
'nasal dermoid cyst' SubClassOf 'rare genetic inherited tumor'
'nasal dermoid cyst' SubClassOf 'facial dermoid cyst'
'nasal dermoid cyst' SubClassOf 'nose disease'
http://purl.obolibrary.org/obo/MONDO_0010924
D-2-hydroxyglutaric aciduria
http://purl.obolibrary.org/obo/GARD_0005661 EquivalentTo 'D-2-hydroxyglutaric aciduria'
'D-2-hydroxyglutaric aciduria' EquivalentTo http://purl.obolibrary.org/obo/SCTID_237960000
http://purl.obolibrary.org/obo/MONDO_0010926
familial hypocalciuric hypercalcemia 3
http://purl.obolibrary.org/obo/GARD_0002878 EquivalentTo 'familial hypocalciuric hypercalcemia 3'
http://purl.obolibrary.org/obo/MONDO_0010925
Velo-facial-skeletal syndrome
'Velo-facial-skeletal syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0005469 EquivalentTo 'Velo-facial-skeletal syndrome'
http://purl.obolibrary.org/obo/MONDO_0009949
pyruvate carboxylase deficiency disease
http://purl.obolibrary.org/obo/GARD_0007512 EquivalentTo 'pyruvate carboxylase deficiency disease'
http://purl.obolibrary.org/obo/MONDO_0010938
T-B+ severe combined immunodeficiency due to JAK3 deficiency
http://purl.obolibrary.org/obo/MESH_C563440 EquivalentTo 'T-B+ severe combined immunodeficiency due to JAK3 deficiency'
http://purl.obolibrary.org/obo/MONDO_0009943
Pyle disease
http://purl.obolibrary.org/obo/GARD_0004612 EquivalentTo 'Pyle disease'
http://purl.obolibrary.org/obo/MONDO_0010931
vitamin D-dependent rickets, type 2B
'vitamin D-dependent rickets, type 2B' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C131076
http://purl.obolibrary.org/obo/MONDO_0010930
anophthalmia plus syndrome
'anophthalmia plus syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'anophthalmia plus syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0009940
pycnodysostosis
'pycnodysostosis' SubClassOf 'rare genetic developmental defect during embryogenesis'
'pycnodysostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042973
'pycnodysostosis' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0009955
rapadilino syndrome
'rapadilino syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0009953
leukocyte adhesion deficiency type II
http://purl.obolibrary.org/obo/GARD_0004634 EquivalentTo 'leukocyte adhesion deficiency type II'
http://purl.obolibrary.org/obo/MONDO_0010941
nocturnal enuresis, 2
http://purl.obolibrary.org/obo/MESH_C563439 EquivalentTo 'nocturnal enuresis, 2'
http://purl.obolibrary.org/obo/MONDO_0009950
pyruvate kinase deficiency of red cells
http://purl.obolibrary.org/obo/GARD_0007514 EquivalentTo 'pyruvate kinase deficiency of red cells'
'pyruvate kinase deficiency of red cells' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C99037
http://purl.obolibrary.org/obo/MONDO_0009968
renal tubular acidosis, distal, with progressive nerve deafness
http://purl.obolibrary.org/obo/GARD_0004666 EquivalentTo 'renal tubular acidosis, distal, with progressive nerve deafness'
http://purl.obolibrary.org/obo/MONDO_0009967
renal tubular acidosis 3
http://purl.obolibrary.org/obo/GARD_0004670 EquivalentTo 'renal tubular acidosis 3'
http://purl.obolibrary.org/obo/MONDO_0009963
Ulbright-Hodes syndrome
http://purl.obolibrary.org/obo/GARD_0005394 EquivalentTo 'Ulbright-Hodes syndrome'
http://purl.obolibrary.org/obo/MONDO_0010952
hereditary hyperferritinemia with congenital cataracts
http://purl.obolibrary.org/obo/GARD_0002806 EquivalentTo 'hereditary hyperferritinemia with congenital cataracts'
http://purl.obolibrary.org/obo/MONDO_0010955
ectodermal dysplasia with mental retardation and syndactyly
http://purl.obolibrary.org/obo/GARD_0002052 EquivalentTo 'ectodermal dysplasia with mental retardation and syndactyly'
http://purl.obolibrary.org/obo/MONDO_0009960
inflammatory bowel disease 1
http://purl.obolibrary.org/obo/GARD_0009857 EquivalentTo 'inflammatory bowel disease 1'
http://purl.obolibrary.org/obo/MONDO_0010956
enamel hypoplasia, cataracts, and aqueductal stenosis
http://purl.obolibrary.org/obo/GARD_0004801 EquivalentTo 'enamel hypoplasia, cataracts, and aqueductal stenosis'
http://purl.obolibrary.org/obo/MONDO_0010959
van den Ende-Gupta syndrome
'van den Ende-Gupta syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/GARD_0003382 EquivalentTo 'van den Ende-Gupta syndrome'
http://purl.obolibrary.org/obo/MONDO_0010958
cardiac arrhythmia, Ankyrin-b-related
http://purl.obolibrary.org/obo/GARD_0010432 EquivalentTo 'cardiac arrhythmia, Ankyrin-b-related'
http://purl.obolibrary.org/obo/MONDO_0009979
reticular dystrophy of the retinal pigment epithelium
http://purl.obolibrary.org/obo/MESH_C564844 EquivalentTo 'reticular dystrophy of the retinal pigment epithelium'
http://purl.obolibrary.org/obo/MONDO_0009978
retinal degeneration-nanophthalmos-glaucoma syndrome
http://purl.obolibrary.org/obo/GARD_0000395 EquivalentTo 'retinal degeneration-nanophthalmos-glaucoma syndrome'
http://purl.obolibrary.org/obo/MONDO_0010966
achondrogenesis type IB
http://purl.obolibrary.org/obo/GARD_0000460 EquivalentTo 'achondrogenesis type IB'
'achondrogenesis type IB' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0009971
newborn respiratory distress syndrome
http://purl.obolibrary.org/obo/GARD_0000112 EquivalentTo 'newborn respiratory distress syndrome'
http://purl.obolibrary.org/obo/MONDO_0010962
palmoplantar keratoderma, nonepidermolytic
http://purl.obolibrary.org/obo/GARD_0005186 EquivalentTo 'palmoplantar keratoderma, nonepidermolytic'
http://purl.obolibrary.org/obo/MONDO_0009989
enhanced S-cone syndrome
http://purl.obolibrary.org/obo/GARD_0010781 EquivalentTo 'enhanced S-cone syndrome'
http://purl.obolibrary.org/obo/MONDO_0009986
retinopathy, pigmentary, and mental retardation
'retinopathy, pigmentary, and mental retardation' EquivalentTo http://www.orpha.net/ORDO/Orphanet_3084
http://purl.obolibrary.org/obo/GARD_0004688 EquivalentTo 'retinopathy, pigmentary, and mental retardation'
http://purl.obolibrary.org/obo/MONDO_0010974
nephrotic syndrome, type 2
http://purl.obolibrary.org/obo/GARD_0003946 EquivalentTo 'nephrotic syndrome, type 2'
http://purl.obolibrary.org/obo/MONDO_0009983
retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome
http://purl.obolibrary.org/obo/GARD_0004683 EquivalentTo 'retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome'
http://purl.obolibrary.org/obo/MONDO_0010976
KRT14-related epidermolysis bullosa simplex
http://purl.obolibrary.org/obo/MESH_C563408 EquivalentTo 'KRT14-related epidermolysis bullosa simplex'
http://purl.obolibrary.org/obo/MONDO_0009980
retinal telangiectasia and hypogammaglobulinemia
http://purl.obolibrary.org/obo/GARD_0002383 EquivalentTo 'retinal telangiectasia and hypogammaglobulinemia'
http://purl.obolibrary.org/obo/MONDO_0010971
infundibulopelvic stenosis-multicystic kidney syndrome
http://purl.obolibrary.org/obo/GARD_0003005 EquivalentTo 'infundibulopelvic stenosis-multicystic kidney syndrome'
http://purl.obolibrary.org/obo/MONDO_0019307
generalized junctional epidermolysis bullosa non-Herlitz type
http://purl.obolibrary.org/obo/GARD_0012922 EquivalentTo 'generalized junctional epidermolysis bullosa non-Herlitz type'
http://purl.obolibrary.org/obo/MONDO_0010972
hydrocephalus-costovertebral dysplasia-sprengel anomaly syndrome
'hydrocephalus-costovertebral dysplasia-sprengel anomaly syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'hydrocephalus-costovertebral dysplasia-sprengel anomaly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/GARD_0005518 EquivalentTo 'hydrocephalus-costovertebral dysplasia-sprengel anomaly syndrome'
http://purl.obolibrary.org/obo/MONDO_0009999
autosomal recessive Robinow syndrome
'autosomal recessive Robinow syndrome' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0009998
Richieri Costa-Pereira syndrome
'Richieri Costa-Pereira syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0009997
Roberts syndrome
http://purl.obolibrary.org/obo/GARD_0007387 EquivalentTo 'Roberts syndrome'
http://purl.obolibrary.org/obo/MONDO_0009996
rhizomelic syndrome, Urbach type
http://purl.obolibrary.org/obo/GARD_0004705 EquivalentTo 'rhizomelic syndrome, Urbach type'
http://purl.obolibrary.org/obo/MONDO_0020310
familial focal epilepsy with variable foci
http://purl.obolibrary.org/obo/GARD_0013295 EquivalentTo 'familial focal epilepsy with variable foci'
http://purl.obolibrary.org/obo/MONDO_0009994
alveolar rhabdomyosarcoma (disease)
http://purl.obolibrary.org/obo/GARD_0004701 EquivalentTo 'alveolar rhabdomyosarcoma (disease)'
http://purl.obolibrary.org/obo/MONDO_0009993
embryonal rhabdomyosarcoma (disease)
http://purl.obolibrary.org/obo/GARD_0004702 EquivalentTo 'embryonal rhabdomyosarcoma (disease)'
http://purl.obolibrary.org/obo/MONDO_0010989
Mayer-Rokitansky-KCster-Hauser syndrome type 2
'Mayer-Rokitansky-KCster-Hauser syndrome type 2' EquivalentTo http://purl.obolibrary.org/obo/SCTID_717705004
http://purl.obolibrary.org/obo/GARD_0005513 EquivalentTo 'Mayer-Rokitansky-KCster-Hauser syndrome type 2'
http://purl.obolibrary.org/obo/MONDO_0020317
acute myeloid leukemia with 11q23 abnormalities
'acute myeloid leukemia with 11q23 abnormalities' EquivalentTo http://purl.obolibrary.org/obo/SCTID_444911000
http://purl.obolibrary.org/obo/MONDO_0019316
maculopapular cutaneous mastocytosis
http://purl.obolibrary.org/obo/GARD_0013079 EquivalentTo 'maculopapular cutaneous mastocytosis'
http://purl.obolibrary.org/obo/MONDO_0010982
ichthyosis-mental retardation syndrome with large Keratohyalin Granules 1N the skin
http://purl.obolibrary.org/obo/GARD_0002957 EquivalentTo 'ichthyosis-mental retardation syndrome with large Keratohyalin Granules 1N the skin'
http://purl.obolibrary.org/obo/MONDO_0019315
diffuse cutaneous mastocytosis
http://purl.obolibrary.org/obo/GARD_0012686 EquivalentTo 'diffuse cutaneous mastocytosis'
http://purl.obolibrary.org/obo/MONDO_0010981
absent tibia-polydactyly-arachnoid cyst syndrome
'absent tibia-polydactyly-arachnoid cyst syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0019318
inflammatory linear verrucous epidermal nevus
http://purl.obolibrary.org/obo/GARD_0005484 EquivalentTo 'inflammatory linear verrucous epidermal nevus'
http://purl.obolibrary.org/obo/MONDO_0019312
Hermansky-Pudlak syndrome
http://purl.obolibrary.org/obo/GARD_0006643 EquivalentTo 'Hermansky-Pudlak syndrome'
http://purl.obolibrary.org/obo/MONDO_0019311
woolly hair nevus
'woolly hair nevus' EquivalentTo http://purl.obolibrary.org/obo/SCTID_239124001
http://purl.obolibrary.org/obo/MONDO_0019314
cutaneous mastocytoma
http://purl.obolibrary.org/obo/GARD_0012687 EquivalentTo 'cutaneous mastocytoma'
http://purl.obolibrary.org/obo/MONDO_0019313
hereditary lymphedema
http://purl.obolibrary.org/obo/GARD_0007220 EquivalentTo 'hereditary lymphedema'
http://purl.obolibrary.org/obo/MONDO_0010996
hereditary hemorrhagic telangiectasia type 3
http://purl.obolibrary.org/obo/MESH_C537140 EquivalentTo 'hereditary hemorrhagic telangiectasia type 3'
http://purl.obolibrary.org/obo/MONDO_0010999
fallot complex-intellectual disability-growth delay syndrome
http://purl.obolibrary.org/obo/GARD_0000893 EquivalentTo 'fallot complex-intellectual disability-growth delay syndrome'
http://purl.obolibrary.org/obo/MONDO_0010998
ALG3-CDG
http://purl.obolibrary.org/obo/GARD_0009827 EquivalentTo 'ALG3-CDG'
http://purl.obolibrary.org/obo/MONDO_0010991
Laterality defects, autosomal dominant
http://purl.obolibrary.org/obo/GARD_0003198 EquivalentTo 'Laterality defects, autosomal dominant'
http://purl.obolibrary.org/obo/MONDO_0020306
absent tibia-polydactyly syndrome
http://purl.obolibrary.org/obo/GARD_0008309 EquivalentTo 'absent tibia-polydactyly syndrome'
http://purl.obolibrary.org/obo/MESH_C535564 EquivalentTo 'absent tibia-polydactyly syndrome'
http://purl.obolibrary.org/obo/MONDO_0010993
Harrod syndrome
http://purl.obolibrary.org/obo/GARD_0002601 EquivalentTo 'Harrod syndrome'
http://purl.obolibrary.org/obo/MONDO_0019329
microcystic lymphatic malformation
http://purl.obolibrary.org/obo/GARD_0013020 EquivalentTo 'microcystic lymphatic malformation'
http://purl.obolibrary.org/obo/MONDO_0010994
micromelic dwarfism, Fryns type
http://purl.obolibrary.org/obo/GARD_0003642 EquivalentTo 'micromelic dwarfism, Fryns type'
http://purl.obolibrary.org/obo/MONDO_0019328
macrocystic lymphatic malformation
http://purl.obolibrary.org/obo/GARD_0006010 EquivalentTo 'macrocystic lymphatic malformation'
'macrocystic lymphatic malformation' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C53316
http://purl.obolibrary.org/obo/MONDO_0019323
pemphigus erythematosus
'pemphigus erythematosus' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008603
http://purl.obolibrary.org/obo/MONDO_0019322
pemphigus vegetans
'pemphigus vegetans' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008613
http://purl.obolibrary.org/obo/MONDO_0019324
pemphigus foliaceus
'pemphigus foliaceus' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008601
http://purl.obolibrary.org/obo/MONDO_0020334
mast cell leukemia
'mast cell leukemia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_110002002
http://purl.obolibrary.org/obo/MESH_D007946 EquivalentTo 'mast cell leukemia'
http://purl.obolibrary.org/obo/MONDO_0020338
adult pure red cell aplasia
http://purl.obolibrary.org/obo/GARD_0010898 EquivalentTo 'adult pure red cell aplasia'
http://purl.obolibrary.org/obo/MONDO_0020337
congenital dyserythropoietic anemia type i
http://purl.obolibrary.org/obo/GARD_0002000 EquivalentTo 'congenital dyserythropoietic anemia type i'
'congenital dyserythropoietic anemia type i' EquivalentTo http://purl.obolibrary.org/obo/SCTID_59548005
http://purl.obolibrary.org/obo/MONDO_0019339
47,XYY syndrome
http://purl.obolibrary.org/obo/GARD_0005674 EquivalentTo '47,XYY syndrome'
'47,XYY syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_50749006
http://purl.obolibrary.org/obo/MONDO_0019336
Gardner syndrome
http://purl.obolibrary.org/obo/GARD_0006482 EquivalentTo 'Gardner syndrome'
http://purl.obolibrary.org/obo/MONDO_0019332
punctate palmoplantar keratoderma type 1
http://purl.obolibrary.org/obo/GARD_0003103 EquivalentTo 'punctate palmoplantar keratoderma type 1'
http://purl.obolibrary.org/obo/MONDO_0020323
primary mediastinal large B-cell lymphoma
'primary mediastinal large B-cell lymphoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_444910004
http://purl.obolibrary.org/obo/MONDO_0019349
Sotos syndrome
http://purl.obolibrary.org/obo/GARD_0010091 EquivalentTo 'Sotos syndrome'
'Sotos syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0020326
lymphomatoid papulosis
'lymphomatoid papulosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000341
http://purl.obolibrary.org/obo/MONDO_0019345
shigellosis
'shigellosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
http://purl.obolibrary.org/obo/MONDO_0019344
antisynthetase syndrome
'antisynthetase syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001982
http://purl.obolibrary.org/obo/MONDO_0019347
peeling skin syndrome
http://purl.obolibrary.org/obo/GARD_0007347 EquivalentTo 'peeling skin syndrome'
http://purl.obolibrary.org/obo/MONDO_0019346
sialidosis type 1
'sialidosis type 1' SubClassOf 'sialidosis'
http://purl.obolibrary.org/obo/GARD_0007639 EquivalentTo 'sialidosis type 1'
'sialidosis type 1' SubClassOf 'sialidosis'
http://purl.obolibrary.org/obo/MONDO_0019341
tuberous sclerosis complex
http://purl.obolibrary.org/obo/GARD_0007830 EquivalentTo 'tuberous sclerosis complex'
'tuberous sclerosis complex' SubClassOf 'pigmentation anomaly of the skin'
http://purl.obolibrary.org/obo/GARD_0000946 EquivalentTo 'tuberous sclerosis complex'
http://purl.obolibrary.org/obo/MONDO_0019342
Seckel syndrome
http://purl.obolibrary.org/obo/GARD_0008562 EquivalentTo 'Seckel syndrome'
'Seckel syndrome' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0020356
coloboma of iris (disease)
http://purl.obolibrary.org/obo/GARD_0001434 EquivalentTo 'coloboma of iris (disease)'
http://purl.obolibrary.org/obo/MONDO_0020354
coloboma of choroid and retina
http://purl.obolibrary.org/obo/GARD_0001432 EquivalentTo 'coloboma of choroid and retina'
http://purl.obolibrary.org/obo/MONDO_0020358
coloboma of optic disc
http://purl.obolibrary.org/obo/GARD_0001438 EquivalentTo 'coloboma of optic disc'
http://purl.obolibrary.org/obo/MONDO_0019351
isolated spina bifida
http://purl.obolibrary.org/obo/GARD_0007673 EquivalentTo 'isolated spina bifida'
http://purl.obolibrary.org/obo/MONDO_0019354
Stickler syndrome
http://purl.obolibrary.org/obo/GARD_0010782 EquivalentTo 'Stickler syndrome'
'Stickler syndrome' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0019372
solitary bone cyst
http://purl.obolibrary.org/obo/MESH_D001845 EquivalentTo 'solitary bone cyst'
http://purl.obolibrary.org/obo/MONDO_0019366
free sialic acid storage disease
http://purl.obolibrary.org/obo/GARD_0010870 EquivalentTo 'free sialic acid storage disease'
http://purl.obolibrary.org/obo/MONDO_0019369
complex regional pain syndrome
http://purl.obolibrary.org/obo/GARD_0004647 EquivalentTo 'complex regional pain syndrome'
http://purl.obolibrary.org/obo/MONDO_0020374
cerulean cataract
http://purl.obolibrary.org/obo/GARD_0009508 EquivalentTo 'cerulean cataract'
http://purl.obolibrary.org/obo/MONDO_0020373
early-onset anterior polar cataract
http://purl.obolibrary.org/obo/GARD_0001140 EquivalentTo 'early-onset anterior polar cataract'
http://purl.obolibrary.org/obo/MONDO_0019378
la Crosse encephalitis
http://purl.obolibrary.org/obo/GARD_0010925 EquivalentTo 'la Crosse encephalitis'
http://purl.obolibrary.org/obo/MONDO_0019374
CAMOS syndrome
http://purl.obolibrary.org/obo/GARD_0009977 EquivalentTo 'CAMOS syndrome'
http://purl.obolibrary.org/obo/MONDO_0019376
West-nile encephalitis
http://purl.obolibrary.org/obo/GARD_0009959 EquivalentTo 'West-nile encephalitis'
http://purl.obolibrary.org/obo/MONDO_0019375
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
http://purl.obolibrary.org/obo/GARD_0010341 EquivalentTo 'megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome'
http://purl.obolibrary.org/obo/MONDO_0019392
syringocystadenoma papilliferum
http://purl.obolibrary.org/obo/GARD_0005100 EquivalentTo 'syringocystadenoma papilliferum'
http://purl.obolibrary.org/obo/MONDO_0019391
Fanconi anemia
http://purl.obolibrary.org/obo/GARD_0006425 EquivalentTo 'Fanconi anemia'
'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
'Fanconi anemia' SubClassOf 'rare genetic skin disease'
http://purl.obolibrary.org/obo/MONDO_0019390
Susac syndrome
'Susac syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001856
http://purl.obolibrary.org/obo/MONDO_0020369
Chandler syndrome
http://purl.obolibrary.org/obo/GARD_0006033 EquivalentTo 'Chandler syndrome'
http://purl.obolibrary.org/obo/MONDO_0019388
pelvis syndrome
'pelvis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
'pelvis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0019385
steroid-responsive encephalopathy associated with autoimmune thyroiditis
'steroid-responsive encephalopathy associated with autoimmune thyroiditis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C122414
http://purl.obolibrary.org/obo/GARD_0008570 EquivalentTo 'steroid-responsive encephalopathy associated with autoimmune thyroiditis'
http://purl.obolibrary.org/obo/MONDO_0019384
encephalitis lethargica
http://purl.obolibrary.org/obo/GARD_0006332 EquivalentTo 'encephalitis lethargica'
http://purl.obolibrary.org/obo/MONDO_0019387
macrostomia-preauricular tags-external ophthalmoplegia syndrome
'macrostomia-preauricular tags-external ophthalmoplegia syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'macrostomia-preauricular tags-external ophthalmoplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0020398
congenital mitral stenosis (disease)
'congenital mitral stenosis (disease)' EquivalentTo 'mitral valve stenosis' and ('disease has feature' some 'genetic and inherited')
http://purl.obolibrary.org/obo/GARD_0001496 EquivalentTo 'congenital mitral stenosis (disease)'
'congenital mitral stenosis (disease)' SubClassOf 'disease has feature' some 'genetic and inherited'
http://purl.obolibrary.org/obo/ICD10_Q23.2 EquivalentTo 'congenital mitral stenosis (disease)'
'congenital mitral stenosis (disease)' SubClassOf 'mitral valve stenosis'
http://purl.obolibrary.org/obo/MONDO_0019399
Isaac syndrome
http://purl.obolibrary.org/obo/GARD_0006793 EquivalentTo 'Isaac syndrome'
http://purl.obolibrary.org/obo/MONDO_0020380
autosomal dominant cerebellar ataxia
'autosomal dominant cerebellar ataxia' SubClassOf 'eye degenerative disease'
'autosomal dominant cerebellar ataxia' SubClassOf 'eye degenerative disease'
http://purl.obolibrary.org/obo/GARD_0004346 EquivalentTo 'autosomal dominant cerebellar ataxia'
http://www.orpha.net/ORDO/Orphanet_915
'Aarskog-Scott-like syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_915
'Aarskog-Scott syndrome, X-linked' EquivalentTo http://www.orpha.net/ORDO/Orphanet_915
http://purl.obolibrary.org/obo/MONDO_0001011
breast cyst
'breast cyst' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000848
http://purl.obolibrary.org/obo/MONDO_0015651
neurocutaneous syndrome with epilepsy
'neurocutaneous syndrome with epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042983
http://purl.obolibrary.org/obo/MONDO_0001024
pneumonic plague
'pneumonic plague' SubClassOf 'lung disease'
'pneumonic plague' SubClassOf 'respiratory tract infectious disease'
'pneumonic plague' SubClassOf 'rare respiratory disease'
'pneumonic plague' EquivalentTo 'plague' and ('disease has location' some http://purl.obolibrary.org/obo/UBERON_0002048)
http://purl.obolibrary.org/obo/MONDO_0015677
cardiac diverticulum (disease)
http://purl.obolibrary.org/obo/GARD_0001094 EquivalentTo 'cardiac diverticulum (disease)'
http://purl.obolibrary.org/obo/MONDO_0015674
late infantile neuronal ceroid lipofuscinosis
'late infantile neuronal ceroid lipofuscinosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_14637005
http://purl.obolibrary.org/obo/MONDO_0015672
diprosopus
http://purl.obolibrary.org/obo/GARD_0001876 EquivalentTo 'diprosopus'
http://purl.obolibrary.org/obo/MONDO_0025028
vesicular stomatitis
'vesicular stomatitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
'vesicular stomatitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_36921006
http://purl.obolibrary.org/obo/MONDO_0001051
beach ear
'beach ear' EquivalentTo http://purl.obolibrary.org/obo/SCTID_30250000
http://purl.obolibrary.org/obo/MONDO_0015696
Good syndrome
http://purl.obolibrary.org/obo/GARD_0008622 EquivalentTo 'Good syndrome'
http://purl.obolibrary.org/obo/MONDO_0015691
hypereosinophilic syndrome
'hypereosinophilic syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001467
http://purl.obolibrary.org/obo/GARD_0002804 EquivalentTo 'hypereosinophilic syndrome'
http://purl.obolibrary.org/obo/MONDO_0015695
combined immunodeficiency due to CRAC channel dysfunction
'combined immunodeficiency due to CRAC channel dysfunction' SubClassOf 'disease caused by disruption of' some http://purl.obolibrary.org/obo/GO_0005262
'combined immunodeficiency due to CRAC channel dysfunction' SubClassOf 'channelopathy'
http://purl.obolibrary.org/obo/MONDO_0015694
malignant melanoma of the mucosa
'malignant melanoma of the mucosa' SubClassOf 'familial cutaneous melanoma'
'malignant melanoma of the mucosa' EquivalentTo 'melanoma (disease)' and ('disease has location' some http://purl.obolibrary.org/obo/UBERON_0000344)
'malignant melanoma of the mucosa' SubClassOf 'disease has location' some http://purl.obolibrary.org/obo/UBERON_0000344
http://purl.obolibrary.org/obo/MONDO_0001068
osteomalacia (disease)
'osteomalacia (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1002027
http://purl.obolibrary.org/obo/GARD_0007285 EquivalentTo 'osteomalacia (disease)'
http://purl.obolibrary.org/obo/MONDO_0040679
urothelial carcinoma
'urothelial carcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008528
http://purl.obolibrary.org/obo/MONDO_0001071
intellectual disability
'intellectual disability' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003847
http://purl.obolibrary.org/obo/MONDO_0001075
steatorrhea (disease)
'steatorrhea (disease)' EquivalentTo http://purl.obolibrary.org/obo/SCTID_27868004
'steatorrhea (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C86917
http://purl.obolibrary.org/obo/MONDO_0001080
acute gonococcal cervicitis
'acute gonococcal cervicitis' EquivalentTo 'gonococcal cervicitis' and ('has modifier' some http://purl.obolibrary.org/obo/PATO_0000389)
http://purl.obolibrary.org/obo/MONDO_0001099
lactocele
http://purl.obolibrary.org/obo/GARD_0008401 EquivalentTo 'lactocele'
http://purl.obolibrary.org/obo/MONDO_0001098
separation anxiety disorder
'separation anxiety disorder' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001916
http://purl.obolibrary.org/obo/MONDO_0025096
malignant catarrh
'malignant catarrh' EquivalentTo http://purl.obolibrary.org/obo/SCTID_24043009
http://purl.obolibrary.org/obo/MONDO_0015705
autosomal recessive centronuclear myopathy
http://purl.obolibrary.org/obo/GARD_0012718 EquivalentTo 'autosomal recessive centronuclear myopathy'
http://purl.obolibrary.org/obo/MONDO_0015718
mosaic trisomy 12
http://purl.obolibrary.org/obo/GARD_0005304 EquivalentTo 'mosaic trisomy 12'
http://purl.obolibrary.org/obo/MONDO_0015712
non-distal trisomy 10q
'non-distal trisomy 10q' SubClassOf 'partial duplication of the long arm of chromosome X'
'non-distal trisomy 10q' SubClassOf 'obsolete partial duplication of the long arm of chromosome 10'
http://purl.obolibrary.org/obo/MONDO_0015727
mosaic trisomy 15
http://purl.obolibrary.org/obo/MESH_C538037 EquivalentTo 'mosaic trisomy 15'
http://purl.obolibrary.org/obo/GARD_0005313 EquivalentTo 'mosaic trisomy 15'
http://purl.obolibrary.org/obo/MONDO_0015725
mosaic trisomy 14
'mosaic trisomy 14' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C116319
http://purl.obolibrary.org/obo/MONDO_0015723
trisomy 12p
http://purl.obolibrary.org/obo/GARD_0005305 EquivalentTo 'trisomy 12p'
http://purl.obolibrary.org/obo/MONDO_0015737
Typical nemaline myopathy
http://purl.obolibrary.org/obo/GARD_0012822 EquivalentTo 'Typical nemaline myopathy'
http://purl.obolibrary.org/obo/MONDO_0015730
mosaic trisomy 17
http://purl.obolibrary.org/obo/MESH_C538044 EquivalentTo 'mosaic trisomy 17'
'mosaic trisomy 17' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C37865
http://purl.obolibrary.org/obo/GARD_0005317 EquivalentTo 'mosaic trisomy 17'
http://purl.obolibrary.org/obo/MONDO_0015736
intermediate nemaline myopathy
http://purl.obolibrary.org/obo/GARD_0012823 EquivalentTo 'intermediate nemaline myopathy'
http://purl.obolibrary.org/obo/MONDO_0001100
hypertrophy of breast
http://purl.obolibrary.org/obo/GARD_0009450 EquivalentTo 'hypertrophy of breast'
http://purl.obolibrary.org/obo/MONDO_0001105
renal hypertension
'renal hypertension' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1002039
http://purl.obolibrary.org/obo/MONDO_0015740
trisomy 18p
http://purl.obolibrary.org/obo/GARD_0005323 EquivalentTo 'trisomy 18p'
http://purl.obolibrary.org/obo/MONDO_0015746
male infertility due to globozoospermia
http://purl.obolibrary.org/obo/GARD_0012502 EquivalentTo 'male infertility due to globozoospermia'
http://purl.obolibrary.org/obo/MONDO_0001112
bubonic plague
'bubonic plague' EquivalentTo 'plague' and ('disease has location' some http://purl.obolibrary.org/obo/UBERON_0006558)
'bubonic plague' SubClassOf 'rare immune disease'
'bubonic plague' SubClassOf 'lymphatic system disease'
http://purl.obolibrary.org/obo/MONDO_0001114
bacterial myocarditis
'bacterial myocarditis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C128380
http://purl.obolibrary.org/obo/MONDO_0015758
primary cutaneous T-cell lymphoma
http://purl.obolibrary.org/obo/GARD_0006226 EquivalentTo 'primary cutaneous T-cell lymphoma'
http://purl.obolibrary.org/obo/MONDO_0015763
mosaic trisomy 2
http://purl.obolibrary.org/obo/GARD_0005331 EquivalentTo 'mosaic trisomy 2'
http://purl.obolibrary.org/obo/MONDO_0015768
trisomy 5p
http://purl.obolibrary.org/obo/GARD_0006093 EquivalentTo 'trisomy 5p'
http://purl.obolibrary.org/obo/MONDO_0015767
trisomy 4p
http://purl.obolibrary.org/obo/GARD_0006091 EquivalentTo 'trisomy 4p'
http://purl.obolibrary.org/obo/MONDO_0015761
trisomy 10p
'trisomy 10p' SubClassOf 'partial duplication of the short arm of chromosome X'
'trisomy 10p' SubClassOf 'obsolete partial duplication of the short arm of chromosome 10'
http://purl.obolibrary.org/obo/GARD_0005299 EquivalentTo 'trisomy 10p'
http://purl.obolibrary.org/obo/MONDO_0015760
T-cell non-Hodgkin lymphoma
http://purl.obolibrary.org/obo/MESH_D016399 EquivalentTo 'T-cell non-Hodgkin lymphoma'
http://purl.obolibrary.org/obo/MONDO_0015531
non-Langerhans cell histiocytosis
http://purl.obolibrary.org/obo/GARD_0008231 EquivalentTo 'non-Langerhans cell histiocytosis'
http://purl.obolibrary.org/obo/MONDO_0015538
indeterminate cell histiocytosis
'indeterminate cell histiocytosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_721313009
http://purl.obolibrary.org/obo/MONDO_0015537
necrobiotic xanthogranuloma
'necrobiotic xanthogranuloma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001376
http://purl.obolibrary.org/obo/MONDO_0015545
macrophage activation syndrome
'macrophage activation syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001806
http://purl.obolibrary.org/obo/MONDO_0015566
2q24 microdeletion syndrome
http://purl.obolibrary.org/obo/GARD_0003746 EquivalentTo '2q24 microdeletion syndrome'
http://purl.obolibrary.org/obo/MONDO_0015564
Castleman disease
http://purl.obolibrary.org/obo/GARD_0000673 EquivalentTo 'Castleman disease'
'Castleman disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001332
http://purl.obolibrary.org/obo/GARD_0012656 EquivalentTo 'Castleman disease'
http://purl.obolibrary.org/obo/MONDO_0015562
distal monosomy 17q
http://purl.obolibrary.org/obo/GARD_0010972 EquivalentTo 'distal monosomy 17q'
http://purl.obolibrary.org/obo/MONDO_0015582
rare disorder related with pregnancy, childbirth and puerperium
'rare disorder related with pregnancy, childbirth and puerperium' EquivalentTo 'pregnancy disease' and ('has modifier' some 'rare')
'rare disorder related with pregnancy, childbirth and puerperium' SubClassOf 'pregnancy disease'
http://purl.obolibrary.org/obo/MONDO_0015597
pustulosis palmaris et plantaris
http://purl.obolibrary.org/obo/GARD_0012820 EquivalentTo 'pustulosis palmaris et plantaris'
http://purl.obolibrary.org/obo/MONDO_0015607
partial chromosome Y deletion
http://purl.obolibrary.org/obo/GARD_0004230 EquivalentTo 'partial chromosome Y deletion'
http://purl.obolibrary.org/obo/MONDO_0015605
distal monosomy 9p
http://purl.obolibrary.org/obo/MESH_C538025 EquivalentTo 'distal monosomy 9p'
http://purl.obolibrary.org/obo/MONDO_0015609
advanced sleep phase syndrome
http://purl.obolibrary.org/obo/GARD_0009242 EquivalentTo 'advanced sleep phase syndrome'
http://purl.obolibrary.org/obo/MONDO_0015611
neutral lipid storage disease
http://purl.obolibrary.org/obo/GARD_0003262 EquivalentTo 'neutral lipid storage disease'
http://purl.obolibrary.org/obo/MONDO_0015610
acquired aplastic anemia
'acquired aplastic anemia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_55907008
'acquired aplastic anemia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0006926
http://purl.obolibrary.org/obo/MONDO_0015612
Dent disease
http://purl.obolibrary.org/obo/GARD_0013105 EquivalentTo 'Dent disease'
http://purl.obolibrary.org/obo/MONDO_0015626
Charcot-Marie-tooth disease
http://purl.obolibrary.org/obo/GARD_0006034 EquivalentTo 'Charcot-Marie-tooth disease'
http://purl.obolibrary.org/obo/MONDO_0015645
eating seizures
'eating seizures' EquivalentTo http://purl.obolibrary.org/obo/SCTID_230450001
http://purl.obolibrary.org/obo/MONDO_0001008
blepharophimosis (disease)
http://purl.obolibrary.org/obo/GARD_0005932 EquivalentTo 'blepharophimosis (disease)'
http://purl.obolibrary.org/obo/MONDO_0015411
facial cleft
'facial cleft' EquivalentTo http://purl.obolibrary.org/obo/SCTID_92821006
http://purl.obolibrary.org/obo/MONDO_0015423
anaplastic thyroid carcinoma (disease)
'anaplastic thyroid carcinoma (disease)' EquivalentTo http://www.orpha.net/ORDO/Orphanet_142
http://purl.obolibrary.org/obo/MESH_D065646 EquivalentTo 'anaplastic thyroid carcinoma (disease)'
'anaplastic thyroid carcinoma (disease)' SubClassOf 'thyroid gland carcinoma'
'anaplastic thyroid carcinoma (disease)' EquivalentTo http://purl.obolibrary.org/obo/SCTID_255031003
http://purl.obolibrary.org/obo/MONDO_0015422
orofaciodigital syndrome type 13
http://purl.obolibrary.org/obo/MESH_C548035 EquivalentTo 'orofaciodigital syndrome type 13'
http://purl.obolibrary.org/obo/GARD_0010694 EquivalentTo 'orofaciodigital syndrome type 13'
http://purl.obolibrary.org/obo/MONDO_0015421
orofaciodigital syndrome type 12
http://purl.obolibrary.org/obo/GARD_0010693 EquivalentTo 'orofaciodigital syndrome type 12'
http://purl.obolibrary.org/obo/MESH_C548034 EquivalentTo 'orofaciodigital syndrome type 12'
http://purl.obolibrary.org/obo/MONDO_0015428
choroidal atrophy-alopecia syndrome
http://purl.obolibrary.org/obo/GARD_0003704 EquivalentTo 'choroidal atrophy-alopecia syndrome'
http://purl.obolibrary.org/obo/MONDO_0015426
Desbuquois dysplasia
http://purl.obolibrary.org/obo/GARD_0001818 EquivalentTo 'Desbuquois dysplasia'
http://purl.obolibrary.org/obo/MONDO_0015434
ring chromosome 18
'ring chromosome 18' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0001226
'ring chromosome 18' EquivalentTo http://purl.obolibrary.org/obo/SCTID_88154004
http://purl.obolibrary.org/obo/MONDO_0015439
ring chromosome 4
'ring chromosome 4' EquivalentTo http://purl.obolibrary.org/obo/SCTID_81678004
'ring chromosome 4' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C121983
http://purl.obolibrary.org/obo/MONDO_0015438
ring chromosome 22
'ring chromosome 22' EquivalentTo http://purl.obolibrary.org/obo/SCTID_13555004
http://purl.obolibrary.org/obo/MONDO_0015437
ring chromosome 21
'ring chromosome 21' EquivalentTo http://purl.obolibrary.org/obo/SCTID_31325007
http://purl.obolibrary.org/obo/MONDO_0015431
ring chromosome 10
'ring chromosome 10' EquivalentTo http://purl.obolibrary.org/obo/SCTID_86997002
http://purl.obolibrary.org/obo/MONDO_0015430
ring chromosome 1
'ring chromosome 1' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C36474
'ring chromosome 1' EquivalentTo http://purl.obolibrary.org/obo/SCTID_47017007
http://purl.obolibrary.org/obo/GARD_0001320 EquivalentTo 'ring chromosome 1'
http://purl.obolibrary.org/obo/MONDO_0015443
chromosome 8-derived supernumerary ring/marker
'chromosome 8-derived supernumerary ring/marker' EquivalentTo http://purl.obolibrary.org/obo/SCTID_715983001
http://purl.obolibrary.org/obo/GARD_0001347 EquivalentTo 'chromosome 8-derived supernumerary ring/marker'
http://purl.obolibrary.org/obo/MONDO_0015448
mitochondrial complex III deficiency
'mitochondrial complex III deficiency' SubClassOf 'mitochondrial complex deficiency'
http://purl.obolibrary.org/obo/MONDO_0015447
differentiated thyroid carcinoma
'differentiated thyroid carcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1002017
http://purl.obolibrary.org/obo/MONDO_0015441
ring chromosome 7
'ring chromosome 7' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C121986
http://purl.obolibrary.org/obo/MONDO_0015440
ring chromosome 6
'ring chromosome 6' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C121985
http://purl.obolibrary.org/obo/MONDO_0015457
corpus callosum agenesis-double urinary collecting system syndrome
http://purl.obolibrary.org/obo/GARD_0000852 EquivalentTo 'corpus callosum agenesis-double urinary collecting system syndrome'
http://purl.obolibrary.org/obo/MONDO_0015454
multiple carboxylase deficiency
http://purl.obolibrary.org/obo/GARD_0003824 EquivalentTo 'multiple carboxylase deficiency'
http://purl.obolibrary.org/obo/ICD10_D81.819 EquivalentTo 'multiple carboxylase deficiency'
http://purl.obolibrary.org/obo/MONDO_0015458
intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
http://purl.obolibrary.org/obo/GARD_0012487 EquivalentTo 'intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome'
http://purl.obolibrary.org/obo/MONDO_0015453
Cogan syndrome
'Cogan syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/GARD_0001421 EquivalentTo 'Cogan syndrome'
http://purl.obolibrary.org/obo/MONDO_0015452
Coffin-Siris syndrome
http://purl.obolibrary.org/obo/GARD_0006124 EquivalentTo 'Coffin-Siris syndrome'
http://purl.obolibrary.org/obo/MONDO_0015450
Triatrial heart
http://purl.obolibrary.org/obo/GARD_0006194 EquivalentTo 'Triatrial heart'
http://purl.obolibrary.org/obo/MONDO_0015469
craniosynostosis
http://purl.obolibrary.org/obo/GARD_0006209 EquivalentTo 'craniosynostosis'
http://purl.obolibrary.org/obo/MONDO_0015461
short rib-polydactyly syndrome
'short rib-polydactyly syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/MONDO_0015473
cryptorchidism-arachnodactyly-intellectual disability syndrome
http://purl.obolibrary.org/obo/GARD_0000860 EquivalentTo 'cryptorchidism-arachnodactyly-intellectual disability syndrome'
http://purl.obolibrary.org/obo/MONDO_0015487
fatal infantile encephalocardiomyopathy
'fatal infantile encephalocardiomyopathy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_718124006
http://purl.obolibrary.org/obo/MONDO_0015486
keratoconus (disease)
http://purl.obolibrary.org/obo/GARD_0006824 EquivalentTo 'keratoconus (disease)'
http://purl.obolibrary.org/obo/MONDO_0015492
Anti-neutrophil cytoplasmic antibody-associated vasculitis
http://purl.obolibrary.org/obo/GARD_0013011 EquivalentTo 'Anti-neutrophil cytoplasmic antibody-associated vasculitis'
http://purl.obolibrary.org/obo/MONDO_0015496
macroglossia
http://purl.obolibrary.org/obo/GARD_0003342 EquivalentTo 'macroglossia'
http://purl.obolibrary.org/obo/MONDO_0015518
infantile bilateral striatal necrosis
http://purl.obolibrary.org/obo/GARD_0005040 EquivalentTo 'infantile bilateral striatal necrosis'
http://purl.obolibrary.org/obo/MONDO_0015517
common variable immunodeficiency
http://purl.obolibrary.org/obo/GARD_0006140 EquivalentTo 'common variable immunodeficiency'
http://purl.obolibrary.org/obo/MONDO_0015514
genetic endocrine growth disease
http://purl.obolibrary.org/obo/MESH_D006130 EquivalentTo 'genetic endocrine growth disease'
http://purl.obolibrary.org/obo/MONDO_0015529
paroxysmal hemicrania
'paroxysmal hemicrania' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001822
http://purl.obolibrary.org/obo/MONDO_0015528
congenital epulis
'congenital epulis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_360525006
http://purl.obolibrary.org/obo/MONDO_0005977
tabes dorsalis
http://purl.obolibrary.org/obo/GARD_0008730 EquivalentTo 'tabes dorsalis'
http://purl.obolibrary.org/obo/MONDO_0005972
streptococcal pneumonia
'streptococcal pneumonia' SubClassOf 'pneumococcal infection'
'streptococcal pneumonia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_34020007
http://purl.obolibrary.org/obo/ICD10_J13 EquivalentTo 'streptococcal pneumonia'
'streptococcal pneumonia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_233607000
http://purl.obolibrary.org/obo/MESH_D011018 EquivalentTo 'streptococcal pneumonia'
'streptococcal pneumonia' SubClassOf 'pneumococcal infection'
http://purl.obolibrary.org/obo/MONDO_0005971
staphyloenterotoxemia
http://purl.obolibrary.org/obo/GARD_0009559 EquivalentTo 'staphyloenterotoxemia'
http://purl.obolibrary.org/obo/MONDO_0005986
torovirus infectious disease
http://purl.obolibrary.org/obo/MESH_D018176 EquivalentTo 'torovirus infectious disease'
http://purl.obolibrary.org/obo/MONDO_0005985
Togaviridae infectious disease
http://purl.obolibrary.org/obo/MESH_D014036 EquivalentTo 'Togaviridae infectious disease'
http://purl.obolibrary.org/obo/MONDO_0015304
arachnoiditis
http://purl.obolibrary.org/obo/GARD_0005839 EquivalentTo 'arachnoiditis'
http://purl.obolibrary.org/obo/MONDO_0005992
trichinosis
'trichinosis' SubClassOf 'realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_6334
'trichinosis' SubClassOf 'realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_6333
http://purl.obolibrary.org/obo/MONDO_0015324
cataract-intellectual disability-anal atresia-urinary defects syndrome
http://purl.obolibrary.org/obo/GARD_0000192 EquivalentTo 'cataract-intellectual disability-anal atresia-urinary defects syndrome'
http://purl.obolibrary.org/obo/MONDO_0015329
malformation syndrome with short stature
'malformation syndrome with short stature' EquivalentTo http://purl.obolibrary.org/obo/SCTID_205808005
'malformation syndrome with short stature' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/HP_0004322
http://purl.obolibrary.org/obo/MONDO_0015328
rare bone development disorder
'rare bone development disorder' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34432
http://purl.obolibrary.org/obo/MONDO_0015326
night blindness-skeletal anomalies-dysmorphism syndrome
'night blindness-skeletal anomalies-dysmorphism syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'night blindness-skeletal anomalies-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0015339
adrenomyeloneuropathy
http://purl.obolibrary.org/obo/GARD_0010614 EquivalentTo 'adrenomyeloneuropathy'
http://purl.obolibrary.org/obo/MONDO_0015358
hereditary motor and sensory neuropathy
http://purl.obolibrary.org/obo/GARD_0012685 EquivalentTo 'hereditary motor and sensory neuropathy'
http://purl.obolibrary.org/obo/MONDO_0015367
Charlie M syndrome
'Charlie M syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0015364
hereditary sensory and autonomic neuropathy
http://purl.obolibrary.org/obo/GARD_0012688 EquivalentTo 'hereditary sensory and autonomic neuropathy'
http://purl.obolibrary.org/obo/MONDO_0015379
cervical dermoid cyst
'cervical dermoid cyst' SubClassOf 'neoplasm of neck'
'cervical dermoid cyst' EquivalentTo 'dermoid cyst' and ('disease has location' some http://purl.obolibrary.org/obo/UBERON_0000974)
'cervical dermoid cyst' SubClassOf 'rare head and neck tumor'
'cervical dermoid cyst' SubClassOf 'dermoid cyst'
http://purl.obolibrary.org/obo/MONDO_0015375
orofaciodigital syndrome
http://purl.obolibrary.org/obo/GARD_0010692 EquivalentTo 'orofaciodigital syndrome'
http://purl.obolibrary.org/obo/MONDO_0015374
primary central nervous system vasculitis
'primary central nervous system vasculitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0015373
Saldino-Mainzer syndrome
http://purl.obolibrary.org/obo/GARD_0008600 EquivalentTo 'Saldino-Mainzer syndrome'
http://purl.obolibrary.org/obo/MONDO_0015382
lower lip fistula
'lower lip fistula' SubClassOf 'lip disease'
'lower lip fistula' EquivalentTo 'cysts and fistulae of the face and oral cavity' and ('disease has location' some http://purl.obolibrary.org/obo/UBERON_0001835)
'lower lip fistula' SubClassOf 'disease has location' some http://purl.obolibrary.org/obo/UBERON_0001835
http://purl.obolibrary.org/obo/MONDO_0015381
commissural lip fistula
'commissural lip fistula' SubClassOf 'disease has location' some http://purl.obolibrary.org/obo/UBERON_1000011
'commissural lip fistula' SubClassOf 'mouth disease'
'commissural lip fistula' EquivalentTo 'cysts and fistulae of the face and oral cavity' and ('disease has location' some http://purl.obolibrary.org/obo/UBERON_1000011)
http://purl.obolibrary.org/obo/MONDO_0015380
facial dermoid cyst
'facial dermoid cyst' SubClassOf 'dermoid cyst'
'facial dermoid cyst' SubClassOf 'head disease'
'facial dermoid cyst' SubClassOf 'disease has location' some http://purl.obolibrary.org/obo/UBERON_0001456
'facial dermoid cyst' SubClassOf 'rare head and neck tumor'
'facial dermoid cyst' EquivalentTo 'dermoid cyst' and ('disease has location' some http://purl.obolibrary.org/obo/UBERON_0001456)
http://purl.obolibrary.org/obo/MONDO_0015384
digestive duplication cyst of the tongue
'digestive duplication cyst of the tongue' EquivalentTo 'cysts and fistulae of the face and oral cavity' and ('disease has location' some http://purl.obolibrary.org/obo/UBERON_0001723)
'digestive duplication cyst of the tongue' SubClassOf 'rare neurologic disease'
'digestive duplication cyst of the tongue' SubClassOf 'tongue disease'
http://purl.obolibrary.org/obo/MONDO_0015398
hemifacial microsomia
http://purl.obolibrary.org/obo/GARD_0006582 EquivalentTo 'hemifacial microsomia'
http://purl.obolibrary.org/obo/MONDO_0015396
congenital laryngeal cyst
'congenital laryngeal cyst' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0100640
http://purl.obolibrary.org/obo/MONDO_0015395
congenital subglottic stenosis
'congenital subglottic stenosis' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0001607
http://purl.obolibrary.org/obo/MONDO_0015405
cerebrofacial arteriovenous metameric syndrome
'cerebrofacial arteriovenous metameric syndrome' SubClassOf 'intracranial hemangioma'
'cerebrofacial arteriovenous metameric syndrome' SubClassOf 'nervous system benign neoplasm'
'cerebrofacial arteriovenous metameric syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0005856
Mononegavirales infectious disease
http://purl.obolibrary.org/obo/MESH_D018701 EquivalentTo 'Mononegavirales infectious disease'
http://purl.obolibrary.org/obo/MONDO_0005857
Morbillivirus infectious disease
http://purl.obolibrary.org/obo/MESH_D018185 EquivalentTo 'Morbillivirus infectious disease'
http://purl.obolibrary.org/obo/MONDO_0005852
mitral valve stenosis
'mitral valve stenosis' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/HP_0002564
http://purl.obolibrary.org/obo/MONDO_0005851
Miller Fisher syndrome
'Miller Fisher syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C116958
http://purl.obolibrary.org/obo/GARD_0003668 EquivalentTo 'Miller Fisher syndrome'
http://purl.obolibrary.org/obo/MONDO_0005850
milker's nodule
http://purl.obolibrary.org/obo/MESH_D011213 EquivalentTo 'milker's nodule'
http://purl.obolibrary.org/obo/MONDO_0005867
Mycoplasma pneumoniae pneumonia
http://purl.obolibrary.org/obo/GARD_0007125 EquivalentTo 'Mycoplasma pneumoniae pneumonia'
'Mycoplasma pneumoniae pneumonia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C122526
http://purl.obolibrary.org/obo/MONDO_0005866
mycobacterium avium complex disease
http://purl.obolibrary.org/obo/MESH_D015270 EquivalentTo 'mycobacterium avium complex disease'
http://purl.obolibrary.org/obo/MONDO_0005868
myelophthisic anemia
'myelophthisic anemia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C36218
http://purl.obolibrary.org/obo/MONDO_0005863
mumps virus infectious disease
http://purl.obolibrary.org/obo/MESH_D019351 EquivalentTo 'mumps virus infectious disease'
http://purl.obolibrary.org/obo/MONDO_0005862
multiple chemical sensitivity
'multiple chemical sensitivity' EquivalentTo http://purl.obolibrary.org/obo/SCTID_702772003
http://purl.obolibrary.org/obo/MONDO_0005861
multidrug-resistant tuberculosis
'multidrug-resistant tuberculosis' SubClassOf 'tuberculosis'
'multidrug-resistant tuberculosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0041806
http://purl.obolibrary.org/obo/MONDO_0005878
ocular onchocerciasis
'ocular onchocerciasis' SubClassOf 'infectious disease of the nervous system'
'ocular onchocerciasis' SubClassOf 'rare eye disease'
'ocular onchocerciasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043885
http://purl.obolibrary.org/obo/MONDO_0005879
ocular toxoplasmosis
'ocular toxoplasmosis' SubClassOf 'infectious disease of the nervous system'
'ocular toxoplasmosis' SubClassOf 'rare eye disease'
'ocular toxoplasmosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043885
http://purl.obolibrary.org/obo/MONDO_0005889
Orthomyxoviridae infectious disease
http://purl.obolibrary.org/obo/MESH_D009976 EquivalentTo 'Orthomyxoviridae infectious disease'
http://purl.obolibrary.org/obo/MONDO_0005886
oral candidiasis
'oral candidiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
http://purl.obolibrary.org/obo/MONDO_0005883
ophthalmic herpes zoster
http://purl.obolibrary.org/obo/GARD_0009721 EquivalentTo 'ophthalmic herpes zoster'
http://purl.obolibrary.org/obo/MONDO_0015206
short stature-heart defect-craniofacial anomalies syndrome
http://purl.obolibrary.org/obo/GARD_0004739 EquivalentTo 'short stature-heart defect-craniofacial anomalies syndrome'
http://purl.obolibrary.org/obo/MONDO_0015205
isolated lissencephaly type 1 without known genetic defects
'isolated lissencephaly type 1 without known genetic defects' EquivalentTo http://purl.obolibrary.org/obo/SCTID_715406003
http://purl.obolibrary.org/obo/MONDO_0005896
Paramyxoviridae infectious disease
http://purl.obolibrary.org/obo/MESH_D018184 EquivalentTo 'Paramyxoviridae infectious disease'
http://purl.obolibrary.org/obo/MONDO_0005890
osteitis fibrosa
'osteitis fibrosa' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34875
http://purl.obolibrary.org/obo/MESH_D010002 EquivalentTo 'osteitis fibrosa'
http://purl.obolibrary.org/obo/MONDO_0015224
rare intoxication
'rare intoxication' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0029000 and ('has modifier' some 'rare')
'rare intoxication' SubClassOf http://purl.obolibrary.org/obo/MONDO_0029000
http://purl.obolibrary.org/obo/MONDO_0015229
Bardet-Biedl syndrome
'Bardet-Biedl syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
'Bardet-Biedl syndrome' SubClassOf 'ciliopathy'
http://purl.obolibrary.org/obo/MONDO_0015228
pentasomy X
'pentasomy X' EquivalentTo http://purl.obolibrary.org/obo/SCTID_43248007
http://purl.obolibrary.org/obo/GARD_0005678 EquivalentTo 'pentasomy X'
http://purl.obolibrary.org/obo/MONDO_0015235
arachnodactyly-intellectual disability-dysmorphism syndrome
'arachnodactyly-intellectual disability-dysmorphism syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/GARD_0000764 EquivalentTo 'arachnodactyly-intellectual disability-dysmorphism syndrome'
'arachnodactyly-intellectual disability-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0015234
arachnodactyly-abnormal ossification-intellectual disability syndrome
http://purl.obolibrary.org/obo/GARD_0000381 EquivalentTo 'arachnodactyly-abnormal ossification-intellectual disability syndrome'
http://purl.obolibrary.org/obo/MONDO_0015238
arrhinia-choanal atresia-microphthalmia syndrome
'arrhinia-choanal atresia-microphthalmia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0015230
anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
'anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0015247
Opsoclonus-myoclonus syndrome
http://purl.obolibrary.org/obo/GARD_0010009 EquivalentTo 'Opsoclonus-myoclonus syndrome'
'Opsoclonus-myoclonus syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001383
http://purl.obolibrary.org/obo/MONDO_0015249
mitral atresia (disease)
'mitral atresia (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C98992
http://purl.obolibrary.org/obo/GARD_0003685 EquivalentTo 'mitral atresia (disease)'
http://purl.obolibrary.org/obo/MONDO_0015240
digitotalar dysmorphism
'digitotalar dysmorphism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0015241
arthrogryposis-like syndrome
http://purl.obolibrary.org/obo/GARD_0003150 EquivalentTo 'arthrogryposis-like syndrome'
http://purl.obolibrary.org/obo/MONDO_0015255
blepharophimosis-radioulnar synostosis syndrome
http://purl.obolibrary.org/obo/GARD_0003057 EquivalentTo 'blepharophimosis-radioulnar synostosis syndrome'
http://purl.obolibrary.org/obo/MONDO_0015254
schistosomiasis
'schistosomiasis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001475
http://purl.obolibrary.org/obo/MONDO_0015253
Diamond-Blackfan anemia
http://purl.obolibrary.org/obo/GARD_0006274 EquivalentTo 'Diamond-Blackfan anemia'
http://purl.obolibrary.org/obo/MONDO_0015269
symmetrical thalamic calcifications
'symmetrical thalamic calcifications' EquivalentTo http://purl.obolibrary.org/obo/SCTID_719164000
http://purl.obolibrary.org/obo/MONDO_0015267
Feingold syndrome
http://purl.obolibrary.org/obo/GARD_0008407 EquivalentTo 'Feingold syndrome'
'Feingold syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0015262
brachyolmia
http://purl.obolibrary.org/obo/GARD_0010903 EquivalentTo 'brachyolmia'
http://purl.obolibrary.org/obo/MONDO_0015260
diphyllobothriasis
'diphyllobothriasis' SubClassOf 'helminthiasis'
'diphyllobothriasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042488
http://purl.obolibrary.org/obo/GARD_0000942 EquivalentTo 'diphyllobothriasis'
http://purl.obolibrary.org/obo/MONDO_0015265
bronchiolitis obliterans with obstructive pulmonary disease
http://purl.obolibrary.org/obo/GARD_0005961 EquivalentTo 'bronchiolitis obliterans with obstructive pulmonary disease'
http://purl.obolibrary.org/obo/MONDO_0015264
cryptogenic organizing pneumonia
http://purl.obolibrary.org/obo/GARD_0001620 EquivalentTo 'cryptogenic organizing pneumonia'
'cryptogenic organizing pneumonia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001300
http://purl.obolibrary.org/obo/MONDO_0015263
Brugada syndrome
http://purl.obolibrary.org/obo/GARD_0001030 EquivalentTo 'Brugada syndrome'
http://purl.obolibrary.org/obo/MONDO_0015280
cardiofaciocutaneous syndrome
http://purl.obolibrary.org/obo/GARD_0009146 EquivalentTo 'cardiofaciocutaneous syndrome'
http://purl.obolibrary.org/obo/MONDO_0015278
familial pancreatic carcinoma
'familial pancreatic carcinoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_715414009
http://purl.obolibrary.org/obo/GARD_0004206 EquivalentTo 'familial pancreatic carcinoma'
http://purl.obolibrary.org/obo/MONDO_0015272
camptodactyly-taurinuria syndrome
http://purl.obolibrary.org/obo/MESH_C537972 EquivalentTo 'camptodactyly-taurinuria syndrome'
http://purl.obolibrary.org/obo/GARD_0001069 EquivalentTo 'camptodactyly-taurinuria syndrome'
http://purl.obolibrary.org/obo/MONDO_0015271
idiopathic camptocormia
http://purl.obolibrary.org/obo/GARD_0001063 EquivalentTo 'idiopathic camptocormia'
http://purl.obolibrary.org/obo/MESH_C537968 EquivalentTo 'idiopathic camptocormia'
http://purl.obolibrary.org/obo/MONDO_0015270
Butyrylcholinesterase deficiency
http://purl.obolibrary.org/obo/GARD_0007482 EquivalentTo 'Butyrylcholinesterase deficiency'
http://purl.obolibrary.org/obo/MONDO_0015277
medullary thyroid gland carcinoma
http://purl.obolibrary.org/obo/GARD_0007004 EquivalentTo 'medullary thyroid gland carcinoma'
http://purl.obolibrary.org/obo/MONDO_0015274
chronic beryllium disease
http://purl.obolibrary.org/obo/MESH_D001607 EquivalentTo 'chronic beryllium disease'
http://purl.obolibrary.org/obo/GARD_0000867 EquivalentTo 'chronic beryllium disease'
http://purl.obolibrary.org/obo/MONDO_0015284
heart-hand syndrome type 2
http://purl.obolibrary.org/obo/GARD_0009847 EquivalentTo 'heart-hand syndrome type 2'
'heart-hand syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0015288
herpes simplex virus keratitis
'herpes simplex virus keratitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34743
http://purl.obolibrary.org/obo/MONDO_0015286
congenital disorder of glycosylation
'congenital disorder of glycosylation' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84615
http://purl.obolibrary.org/obo/GARD_0010307 EquivalentTo 'congenital disorder of glycosylation'
http://purl.obolibrary.org/obo/MONDO_0015285
Carney complex
'Carney complex' EquivalentTo http://purl.obolibrary.org/obo/SCTID_239132009
http://purl.obolibrary.org/obo/GARD_0001119 EquivalentTo 'Carney complex'
http://purl.obolibrary.org/obo/MONDO_0015294
nephrogenic systemic fibrosis
'nephrogenic systemic fibrosis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84920
'nephrogenic systemic fibrosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001814
http://purl.obolibrary.org/obo/MONDO_0015292
endotheliitis
'endotheliitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C12481
http://purl.obolibrary.org/obo/MONDO_0015299
Asherman syndrome
http://purl.obolibrary.org/obo/GARD_0005853 EquivalentTo 'Asherman syndrome'
http://purl.obolibrary.org/obo/MONDO_0005902
peanut allergic reaction
http://purl.obolibrary.org/obo/MESH_D021183 EquivalentTo 'peanut allergic reaction'
http://purl.obolibrary.org/obo/MONDO_0005906
peritonsillar abscess
'peritonsillar abscess' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
http://purl.obolibrary.org/obo/MONDO_0005911
pharyngoconjunctival fever
'pharyngoconjunctival fever' SubClassOf 'realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_10508
'pharyngoconjunctival fever' SubClassOf 'viral infectious disease'
'pharyngoconjunctival fever' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043479
http://purl.obolibrary.org/obo/MONDO_0005918
placenta praevia
'placenta praevia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_36813001
http://purl.obolibrary.org/obo/MONDO_0005914
Picornaviridae infectious disease
http://purl.obolibrary.org/obo/MESH_D010850 EquivalentTo 'Picornaviridae infectious disease'
http://purl.obolibrary.org/obo/MONDO_0005917
placenta disease
http://purl.obolibrary.org/obo/GARD_0007402 EquivalentTo 'placenta disease'
http://purl.obolibrary.org/obo/MONDO_0005923
Pneumocystis infectious disease
http://purl.obolibrary.org/obo/MESH_D016720 EquivalentTo 'Pneumocystis infectious disease'
http://purl.obolibrary.org/obo/MONDO_0005927
polyomavirus infectious disease
http://purl.obolibrary.org/obo/MESH_D027601 EquivalentTo 'polyomavirus infectious disease'
http://purl.obolibrary.org/obo/MONDO_0005943
Rhabditida infectious disease
http://purl.obolibrary.org/obo/GARD_0008203 EquivalentTo 'Rhabditida infectious disease'
http://purl.obolibrary.org/obo/MONDO_0005940
respirovirus infectious disease
http://purl.obolibrary.org/obo/MESH_D010253 EquivalentTo 'respirovirus infectious disease'
http://purl.obolibrary.org/obo/MONDO_0005947
rickettsial pneumonia
'rickettsial pneumonia' SubClassOf 'bacterial pneumonia'
'rickettsial pneumonia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0041850
http://purl.obolibrary.org/obo/MONDO_0005949
Roseolovirus infectious disease
http://purl.obolibrary.org/obo/MESH_D019349 EquivalentTo 'Roseolovirus infectious disease'
http://purl.obolibrary.org/obo/MONDO_0005954
screw worm infectious disease
http://purl.obolibrary.org/obo/MESH_D012610 EquivalentTo 'screw worm infectious disease'
http://purl.obolibrary.org/obo/MONDO_0005957
setariasis
'setariasis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_4414005
http://purl.obolibrary.org/obo/MONDO_0005956
septicemic plague
'septicemic plague' SubClassOf 'disease has location' some http://purl.obolibrary.org/obo/UBERON_0000178
'septicemic plague' SubClassOf 'hematological system disease'
'septicemic plague' EquivalentTo 'plague' and ('disease has location' some http://purl.obolibrary.org/obo/UBERON_0000178)
http://purl.obolibrary.org/obo/MONDO_0005950
Salmonella gastroenteritis
'Salmonella gastroenteritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
http://purl.obolibrary.org/obo/MESH_D012478 EquivalentTo 'Salmonella gastroenteritis'
http://purl.obolibrary.org/obo/MONDO_0005967
splenic tuberculosis
'splenic tuberculosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_28399005
http://purl.obolibrary.org/obo/MONDO_0005962
skeletal tuberculosis
'skeletal tuberculosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_17653001
http://purl.obolibrary.org/obo/MONDO_0005963
sparganosis
'sparganosis' SubClassOf 'helminthiasis'
'sparganosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042488
http://purl.obolibrary.org/obo/MONDO_0005960
silicosis
'silicosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_233763009
'silicosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_805002
http://purl.obolibrary.org/obo/MONDO_0005737
Ebola hemorrhagic fever
http://purl.obolibrary.org/obo/GARD_0002035 EquivalentTo 'Ebola hemorrhagic fever'
http://purl.obolibrary.org/obo/MONDO_0005731
dipetalonemiasis
'dipetalonemiasis' SubClassOf 'parasitic skin disease'
'dipetalonemiasis' SubClassOf 'rare skin disease'
'dipetalonemiasis' SubClassOf 'Nematoda infectious disease'
'dipetalonemiasis' SubClassOf 'realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_42231
'dipetalonemiasis' EquivalentTo 'disease' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_42231)
http://purl.obolibrary.org/obo/GARD_0000004 EquivalentTo 'dipetalonemiasis'
http://purl.obolibrary.org/obo/MONDO_0005738
echinococcosis
'echinococcosis' SubClassOf 'helminthiasis'
'echinococcosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042488
'echinococcosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_74942003
http://purl.obolibrary.org/obo/MONDO_0005745
Enoplea infectious disease
http://purl.obolibrary.org/obo/MESH_D017189 EquivalentTo 'Enoplea infectious disease'
http://purl.obolibrary.org/obo/MONDO_0005747
enterovirus infectious disease
'enterovirus infectious disease' SubClassOf 'disease affecting anatomical system'
'enterovirus infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
http://purl.obolibrary.org/obo/MONDO_0005740
echovirus infectious disease
'echovirus infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_271532008
http://purl.obolibrary.org/obo/MONDO_0005759
fascioloidiasis
'fascioloidiasis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_69550000
http://purl.obolibrary.org/obo/MONDO_0005758
eunuchism
'eunuchism' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C131195
http://purl.obolibrary.org/obo/MONDO_0005753
epiglottitis
'epiglottitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
http://purl.obolibrary.org/obo/MONDO_0005768
gastrointestinal tuberculosis
'gastrointestinal tuberculosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
http://purl.obolibrary.org/obo/MONDO_0030703
autoimmune vasculitis
'autoimmune vasculitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_427213005
http://purl.obolibrary.org/obo/MONDO_0005763
Flaviviridae infectious disease
http://purl.obolibrary.org/obo/MESH_D018178 EquivalentTo 'Flaviviridae infectious disease'
http://purl.obolibrary.org/obo/MONDO_0005762
Filoviridae infectious disease
http://purl.obolibrary.org/obo/MESH_D018702 EquivalentTo 'Filoviridae infectious disease'
http://purl.obolibrary.org/obo/MONDO_0005761
filarial elephantiasis
'filarial elephantiasis' SubClassOf 'infectious disease of the nervous system'
'filarial elephantiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043885
http://purl.obolibrary.org/obo/MONDO_0005774
glanders
'glanders' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043953
http://purl.obolibrary.org/obo/MONDO_0005776
gnathomiasis
http://purl.obolibrary.org/obo/GARD_0009286 EquivalentTo 'gnathomiasis'
http://purl.obolibrary.org/obo/MONDO_0005786
Hepadnaviridae infectious disease
http://purl.obolibrary.org/obo/MESH_D018347 EquivalentTo 'Hepadnaviridae infectious disease'
http://purl.obolibrary.org/obo/MONDO_0005785
Henipavirus infectious disease
http://purl.obolibrary.org/obo/MESH_D045464 EquivalentTo 'Henipavirus infectious disease'
http://purl.obolibrary.org/obo/MONDO_0005780
hantavirus infectious disease
'hantavirus infectious disease' SubClassOf 'bunyaviridae infectious disease'
'hantavirus infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_359761005
http://purl.obolibrary.org/obo/MESH_D018778 EquivalentTo 'hantavirus infectious disease'
'hantavirus infectious disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3899
'hantavirus infectious disease' SubClassOf 'bunyaviridae infectious disease'
http://purl.obolibrary.org/obo/MONDO_0015104
porphyria cutanea tarda
http://purl.obolibrary.org/obo/GARD_0007433 EquivalentTo 'porphyria cutanea tarda'
http://purl.obolibrary.org/obo/MONDO_0015108
rare non-syndromic intellectual disability
http://purl.obolibrary.org/obo/GARD_0012633 EquivalentTo 'rare non-syndromic intellectual disability'
http://purl.obolibrary.org/obo/MONDO_0005792
herpes simplex virus gingivostomatitis
'herpes simplex virus gingivostomatitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_57920007
'herpes simplex virus gingivostomatitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
http://purl.obolibrary.org/obo/MONDO_0005794
Herpesviridae infectious disease
'Herpesviridae infectious disease' SubClassOf 'viral infectious disease'
'Herpesviridae infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_23513009
'Herpesviridae infectious disease' SubClassOf 'viral infectious disease'
http://purl.obolibrary.org/obo/MONDO_0015138
rare genetic primary immunodeficiency
'rare genetic primary immunodeficiency' EquivalentTo http://purl.obolibrary.org/obo/SCTID_58606001
http://purl.obolibrary.org/obo/MONDO_0015146
classic lissencephaly
http://purl.obolibrary.org/obo/GARD_0005049 EquivalentTo 'classic lissencephaly'
http://purl.obolibrary.org/obo/MONDO_0015140
early-onset autosomal dominant Alzheimer disease
'early-onset autosomal dominant Alzheimer disease' SubClassOf 'Alzheimers disease'
'early-onset autosomal dominant Alzheimer disease' SubClassOf 'genetic neurodegenerative disease with dementia'
http://purl.obolibrary.org/obo/GARD_0012798 EquivalentTo 'early-onset autosomal dominant Alzheimer disease'
'early-onset autosomal dominant Alzheimer disease' SubClassOf 'Alzheimers disease'
'early-onset autosomal dominant Alzheimer disease' SubClassOf 'autosomal dominant disease'
'early-onset autosomal dominant Alzheimer disease' SubClassOf 'inherited neurodegenerative disorder'
'early-onset autosomal dominant Alzheimer disease' SubClassOf 'genetic neurodegenerative disease with dementia'
http://purl.obolibrary.org/obo/MONDO_0015145
neurovascular malformation
'neurovascular malformation' SubClassOf 'rare epilepsy'
'neurovascular malformation' SubClassOf 'structural epilepsy'
http://purl.obolibrary.org/obo/MONDO_0015153
autosomal monosomy
'autosomal monosomy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3239
http://purl.obolibrary.org/obo/MONDO_0015170
congenital sodium diarrhea
'congenital sodium diarrhea' EquivalentTo http://purl.obolibrary.org/obo/SCTID_18805001
http://purl.obolibrary.org/obo/MONDO_0015168
arthrogryposis multiplex congenita
http://purl.obolibrary.org/obo/GARD_0000777 EquivalentTo 'arthrogryposis multiplex congenita'
http://purl.obolibrary.org/obo/MONDO_0015167
amniotic bands
http://purl.obolibrary.org/obo/GARD_0000429 EquivalentTo 'amniotic bands'
'amniotic bands' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84552
'amniotic bands' EquivalentTo http://purl.obolibrary.org/obo/SCTID_440214006
http://purl.obolibrary.org/obo/MONDO_0015175
autoimmune pancreatitis
http://purl.obolibrary.org/obo/GARD_0010911 EquivalentTo 'autoimmune pancreatitis'
http://purl.obolibrary.org/obo/MONDO_0015193
hydrops fetalis (disease)
http://purl.obolibrary.org/obo/GARD_0002783 EquivalentTo 'hydrops fetalis (disease)'
http://purl.obolibrary.org/obo/GARD_0002301 EquivalentTo 'hydrops fetalis (disease)'
http://purl.obolibrary.org/obo/MONDO_0015199
aniridia-intellectual disability syndrome
http://purl.obolibrary.org/obo/GARD_0005530 EquivalentTo 'aniridia-intellectual disability syndrome'
http://purl.obolibrary.org/obo/MONDO_0015198
aniridia-ptosis-intellectual disability-familial obesity syndrome
http://purl.obolibrary.org/obo/GARD_0000689 EquivalentTo 'aniridia-ptosis-intellectual disability-familial obesity syndrome'
http://purl.obolibrary.org/obo/MONDO_0005801
human T-lymphotropic virus 1 infectious disease
http://purl.obolibrary.org/obo/MESH_D015490 EquivalentTo 'human T-lymphotropic virus 1 infectious disease'
http://purl.obolibrary.org/obo/MONDO_0005800
hordeolum
'hordeolum' SubClassOf 'infectious disease of the nervous system'
'hordeolum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043885
http://purl.obolibrary.org/obo/MONDO_0005805
hypodermyiasis
'hypodermyiasis' EquivalentTo http://www.orpha.net/ORDO/Orphanet_430
http://purl.obolibrary.org/obo/MONDO_0005814
intestinal cancer
'intestinal cancer' EquivalentTo http://purl.obolibrary.org/obo/SCTID_363508008
http://purl.obolibrary.org/obo/MONDO_0005819
laryngeal tuberculosis
'laryngeal tuberculosis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C26895
http://purl.obolibrary.org/obo/MONDO_0005825
leptospirosis
'leptospirosis' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/HP_0000952
'leptospirosis' EquivalentTo 'disease' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_171)
'leptospirosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_77377001
http://purl.obolibrary.org/obo/MONDO_0005826
lipid pneumonia
http://purl.obolibrary.org/obo/GARD_0006394 EquivalentTo 'lipid pneumonia'
http://purl.obolibrary.org/obo/MONDO_0005828
listeriosis
http://purl.obolibrary.org/obo/GARD_0006915 EquivalentTo 'listeriosis'
http://purl.obolibrary.org/obo/MONDO_0005833
lymphatic system disease
'lymphatic system disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C50764
http://purl.obolibrary.org/obo/MONDO_0005841
maxillary neoplasm
'maxillary neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_126550004
http://purl.obolibrary.org/obo/MONDO_0005849
milk allergic reaction
http://purl.obolibrary.org/obo/MESH_D016269 EquivalentTo 'milk allergic reaction'
http://purl.obolibrary.org/obo/MONDO_0005615
plasmacytoma
http://purl.obolibrary.org/obo/GARD_0007404 EquivalentTo 'plasmacytoma'
http://purl.obolibrary.org/obo/MONDO_0005620
cerebral amyloid angiopathy
http://purl.obolibrary.org/obo/GARD_0010266 EquivalentTo 'cerebral amyloid angiopathy'
http://purl.obolibrary.org/obo/MONDO_0005623
autoimmune thyroid disease
http://purl.obolibrary.org/obo/GARD_0006945 EquivalentTo 'autoimmune thyroid disease'
http://purl.obolibrary.org/obo/MONDO_0005628
male breast carcinoma
http://purl.obolibrary.org/obo/GARD_0009312 EquivalentTo 'male breast carcinoma'
http://purl.obolibrary.org/obo/MONDO_0005638
agnosia
'agnosia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_68345001
http://purl.obolibrary.org/obo/MONDO_0005634
acute hemorrhagic conjunctivitis
'acute hemorrhagic conjunctivitis' SubClassOf 'infectious disease of the nervous system'
'acute hemorrhagic conjunctivitis' SubClassOf 'rare conjunctival disease'
'acute hemorrhagic conjunctivitis' SubClassOf 'rare viral disease'
'acute hemorrhagic conjunctivitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043541
http://purl.obolibrary.org/obo/MONDO_0005643
Alphavirus infectious disease
http://purl.obolibrary.org/obo/MESH_D018354 EquivalentTo 'Alphavirus infectious disease'
http://purl.obolibrary.org/obo/MONDO_0005658
Astroviridae infectious disease
http://purl.obolibrary.org/obo/MESH_D019350 EquivalentTo 'Astroviridae infectious disease'
http://purl.obolibrary.org/obo/MONDO_0005652
Arterivirus infectious disease
http://purl.obolibrary.org/obo/MESH_D018174 EquivalentTo 'Arterivirus infectious disease'
http://purl.obolibrary.org/obo/MONDO_0030603
Klebsiella infectious disease
http://purl.obolibrary.org/obo/GARD_0010085 EquivalentTo 'Klebsiella infectious disease'
'Klebsiella infectious disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001353
'Klebsiella infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_721756002
http://purl.obolibrary.org/obo/MONDO_0030604
cystic partially differentiated nephroblastoma
'cystic partially differentiated nephroblastoma' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/PATO_0001673
http://purl.obolibrary.org/obo/MONDO_0005660
Avulavirus infectious disease
http://purl.obolibrary.org/obo/MESH_D045463 EquivalentTo 'Avulavirus infectious disease'
http://purl.obolibrary.org/obo/MONDO_0005671
Blastocystis infectious disease
'Blastocystis infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_721809007
http://purl.obolibrary.org/obo/MONDO_0005689
cannabis dependence
http://purl.obolibrary.org/obo/MESH_D002189 EquivalentTo 'cannabis dependence'
http://purl.obolibrary.org/obo/MONDO_0005688
campylobacteriosis
'campylobacteriosis' SubClassOf 'realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_197
http://purl.obolibrary.org/obo/MESH_D002169 EquivalentTo 'campylobacteriosis'
'campylobacteriosis' SubClassOf 'realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_194
http://purl.obolibrary.org/obo/MONDO_0005698
cervical incompetence
http://purl.obolibrary.org/obo/MESH_D002581 EquivalentTo 'cervical incompetence'
http://purl.obolibrary.org/obo/MONDO_0005699
cervicofacial actinomycosis
'cervicofacial actinomycosis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34351
http://purl.obolibrary.org/obo/MONDO_0015048
hypomaturation amelogenesis imperfecta
http://purl.obolibrary.org/obo/MESH_C536606 EquivalentTo 'hypomaturation amelogenesis imperfecta'
http://purl.obolibrary.org/obo/GARD_0008349 EquivalentTo 'hypomaturation amelogenesis imperfecta'
http://purl.obolibrary.org/obo/MONDO_0015045
alpha-heavy chain disease
'alpha-heavy chain disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001798
http://purl.obolibrary.org/obo/MESH_D007161 EquivalentTo 'alpha-heavy chain disease'
http://purl.obolibrary.org/obo/MONDO_0015060
mosaic trisomy 3
http://purl.obolibrary.org/obo/GARD_0005342 EquivalentTo 'mosaic trisomy 3'
http://purl.obolibrary.org/obo/MONDO_0015059
progressive non-fluent aphasia
'progressive non-fluent aphasia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_716281000
http://purl.obolibrary.org/obo/MESH_D057178 EquivalentTo 'progressive non-fluent aphasia'
'progressive non-fluent aphasia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C85025
http://purl.obolibrary.org/obo/MONDO_0015057
Renin-angiotensin-aldosterone system-blocker-induced angioedema
http://purl.obolibrary.org/obo/GARD_0009445 EquivalentTo 'Renin-angiotensin-aldosterone system-blocker-induced angioedema'
http://purl.obolibrary.org/obo/MONDO_0015070
laryngeal neuroendocrine neoplasm
'laryngeal neuroendocrine neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_707625001
http://purl.obolibrary.org/obo/MONDO_0015074
thyroid tumor
'thyroid tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003841
http://purl.obolibrary.org/obo/MONDO_0015091
autosomal dominant spastic paraplegia type 9
http://purl.obolibrary.org/obo/GARD_0009583 EquivalentTo 'autosomal dominant spastic paraplegia type 9'
http://purl.obolibrary.org/obo/MONDO_0015095
Peters anomaly-cataract syndrome
http://purl.obolibrary.org/obo/MESH_C537885 EquivalentTo 'Peters anomaly-cataract syndrome'
http://purl.obolibrary.org/obo/MONDO_0005704
Ciliophora infectious disease
http://purl.obolibrary.org/obo/MESH_D016770 EquivalentTo 'Ciliophora infectious disease'
http://purl.obolibrary.org/obo/MONDO_0005711
congenital diaphragmatic hernia
http://purl.obolibrary.org/obo/GARD_0001481 EquivalentTo 'congenital diaphragmatic hernia'
http://purl.obolibrary.org/obo/MONDO_0005719
coronavinae infectious disease
http://purl.obolibrary.org/obo/MESH_D018352 EquivalentTo 'coronavinae infectious disease'
http://purl.obolibrary.org/obo/MONDO_0005725
cyclosporiasis
http://purl.obolibrary.org/obo/GARD_0009528 EquivalentTo 'cyclosporiasis'
http://purl.obolibrary.org/obo/MONDO_0005721
coxsackievirus infectious disease
http://purl.obolibrary.org/obo/MESH_D003384 EquivalentTo 'coxsackievirus infectious disease'
http://purl.obolibrary.org/obo/MONDO_0005504
diphtheria
'diphtheria' SubClassOf 'realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_1717
'diphtheria' SubClassOf 'realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_1717
'diphtheria' EquivalentTo 'infectious disease' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_1717)
http://purl.obolibrary.org/obo/MONDO_0005502
dengue disease
http://purl.obolibrary.org/obo/GARD_0006254 EquivalentTo 'dengue disease'
http://purl.obolibrary.org/obo/MONDO_0005516
osteochondrodysplasia
http://purl.obolibrary.org/obo/GARD_0006051 EquivalentTo 'osteochondrodysplasia'
http://purl.obolibrary.org/obo/MONDO_0005526
tetanus
'tetanus' EquivalentTo http://purl.obolibrary.org/obo/SCTID_76902006
http://purl.obolibrary.org/obo/MONDO_0005527
toxic encephalopathy
http://purl.obolibrary.org/obo/GARD_0007199 EquivalentTo 'toxic encephalopathy'
http://purl.obolibrary.org/obo/MONDO_0005523
steroid inherited metabolic disorder
http://purl.obolibrary.org/obo/MESH_D043202 EquivalentTo 'steroid inherited metabolic disorder'
http://purl.obolibrary.org/obo/MONDO_0005520
rickets (disease)
http://purl.obolibrary.org/obo/GARD_0005700 EquivalentTo 'rickets (disease)'
http://purl.obolibrary.org/obo/MONDO_0005539
small bowel Crohn disease
'small bowel Crohn disease' SubClassOf 'small intestine disease'
'small bowel Crohn disease' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0002108
'small bowel Crohn disease' SubClassOf 'gastroenteritis'
'small bowel Crohn disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043579
http://purl.obolibrary.org/obo/MONDO_0005538
proctitis
'proctitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
http://purl.obolibrary.org/obo/MONDO_0005530
opiate dependence
'opiate dependence' SubClassOf 'drug dependence'
'opiate dependence' SubClassOf 'drug dependence'
'opiate dependence' EquivalentTo http://purl.obolibrary.org/obo/SCTID_75544000
http://purl.obolibrary.org/obo/MONDO_0005558
ovarian disease
'ovarian disease' SubClassOf 'female reproductive system disease'
'ovarian disease' SubClassOf 'female reproductive system disease'
http://purl.obolibrary.org/obo/MONDO_0005556
lupus nephritis
'lupus nephritis' SubClassOf 'glomerulonephritis (disease)'
'lupus nephritis' SubClassOf 'autoimmune glomerulonephritis'
http://purl.obolibrary.org/obo/MONDO_0005552
ocular vascular disease
'ocular vascular disease' SubClassOf 'vascular disease'
'ocular vascular disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35664
'ocular vascular disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0005561
aortic disease
'aortic disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C101253
http://purl.obolibrary.org/obo/MONDO_0005560
brain disease
'brain disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C26920
http://purl.obolibrary.org/obo/MONDO_0005579
generalised epilepsy
'generalised epilepsy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_19598007
http://purl.obolibrary.org/obo/MESH_D004829 EquivalentTo 'generalised epilepsy'
'generalised epilepsy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3021
http://purl.obolibrary.org/obo/MONDO_0005582
binge eating
'binge eating' SubClassOf 'eating disorder'
'binge eating' EquivalentTo http://purl.obolibrary.org/obo/SCTID_439960005
'binge eating' SubClassOf 'eating disorder'
http://purl.obolibrary.org/obo/MONDO_0005594
severe cutaneous adverse reaction
'severe cutaneous adverse reaction' EquivalentTo http://purl.obolibrary.org/obo/SCTID_275322007
'severe cutaneous adverse reaction' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34483
http://purl.obolibrary.org/obo/MONDO_0011297
autosomal dominant nocturnal frontal lobe epilepsy 2
http://purl.obolibrary.org/obo/MESH_C566400 EquivalentTo 'autosomal dominant nocturnal frontal lobe epilepsy 2'
http://purl.obolibrary.org/obo/MONDO_0011291
congenital disorder of glycosylation type 1C
http://purl.obolibrary.org/obo/GARD_0009829 EquivalentTo 'congenital disorder of glycosylation type 1C'
'congenital disorder of glycosylation type 1C' EquivalentTo http://purl.obolibrary.org/obo/SCTID_709412006
http://purl.obolibrary.org/obo/MONDO_0001909
renal tubular acidosis
'renal tubular acidosis' SubClassOf 'inherited renal tubular disease'
'renal tubular acidosis' SubClassOf 'rare genetic hematologic disease'
'renal tubular acidosis' SubClassOf http://purl.obolibrary.org/obo/HP_0001942
'renal tubular acidosis' EquivalentTo 'acidosis (disease)' and ('disease has location' some http://purl.obolibrary.org/obo/UBERON_0009773)
'renal tubular acidosis' SubClassOf 'acidosis (disease)'
http://purl.obolibrary.org/obo/MONDO_0001901
selective IgG deficiency disease
http://purl.obolibrary.org/obo/MESH_D017099 EquivalentTo 'selective IgG deficiency disease'
http://purl.obolibrary.org/obo/MONDO_0001910
ochronosis (disease)
'ochronosis (disease)' SubClassOf 'connective tissue disease'
http://purl.obolibrary.org/obo/GARD_0007231 EquivalentTo 'ochronosis (disease)'
'ochronosis (disease)' SubClassOf 'metabolic disease'
'ochronosis (disease)' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/HP_0030764
'ochronosis (disease)' SubClassOf 'cartilage disease'
'ochronosis (disease)' SubClassOf 'disease caused by disruption of' some http://purl.obolibrary.org/obo/GO_1901999
'ochronosis (disease)' EquivalentTo 'metabolic disease' and ('disease caused by disruption of' some http://purl.obolibrary.org/obo/GO_1901999) and ('disease has location' some http://purl.obolibrary.org/obo/UBERON_0002418) and ('disease has feature' some http://purl.obolibrary.org/obo/HP_0030764)
http://purl.obolibrary.org/obo/MONDO_0001914
scleromalacia perforans
'scleromalacia perforans' SubClassOf 'scleral disease'
'scleromalacia perforans' SubClassOf http://purl.obolibrary.org/obo/MONDO_0040699
http://purl.obolibrary.org/obo/MONDO_0001926
ureteral disease
'ureteral disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C27148
http://purl.obolibrary.org/obo/MONDO_0001935
neurogenic arthropathy
'neurogenic arthropathy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001378
http://purl.obolibrary.org/obo/MONDO_0001939
skin epithelioid hemangioma
'skin epithelioid hemangioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001424
http://purl.obolibrary.org/obo/MONDO_0001942
generalized anxiety disorder
'generalized anxiety disorder' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001892
http://purl.obolibrary.org/obo/MONDO_0001945
postencephalitic Parkinson disease
'postencephalitic Parkinson disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001402
http://purl.obolibrary.org/obo/MONDO_0001943
Plasmodium malariae malaria
'Plasmodium malariae malaria' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34799
http://purl.obolibrary.org/obo/MONDO_0001947
suppurative thyroiditis
'suppurative thyroiditis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C129724
'suppurative thyroiditis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001431
http://purl.obolibrary.org/obo/MONDO_0001951
norwegian scabies
http://purl.obolibrary.org/obo/GARD_0012151 EquivalentTo 'norwegian scabies'
http://purl.obolibrary.org/obo/MONDO_0001956
capillary leak syndrome
http://purl.obolibrary.org/obo/GARD_0001084 EquivalentTo 'capillary leak syndrome'
http://purl.obolibrary.org/obo/MONDO_0001973
Brucella abortus brucellosis
'Brucella abortus brucellosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_427795000
http://purl.obolibrary.org/obo/MONDO_0001972
Brucella melitensis brucellosis
'Brucella melitensis brucellosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_427999003
http://purl.obolibrary.org/obo/MONDO_0001979
dumping syndrome
'dumping syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001307
http://purl.obolibrary.org/obo/MONDO_0001976
chorea gravidarum
'chorea gravidarum' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001290
http://purl.obolibrary.org/obo/MONDO_0001982
Niemann-Pick disease
http://purl.obolibrary.org/obo/GARD_0013334 EquivalentTo 'Niemann-Pick disease'
'Niemann-Pick disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001380
http://purl.obolibrary.org/obo/MONDO_0011304
cerebral cavernous malformation 2
http://purl.obolibrary.org/obo/MESH_C566394 EquivalentTo 'cerebral cavernous malformation 2'
http://purl.obolibrary.org/obo/MONDO_0011309
familial gestational hyperthyroidism
'familial gestational hyperthyroidism' SubClassOf 'hypertension, pregnancy-induced'
http://purl.obolibrary.org/obo/MONDO_0011308
gracile syndrome
http://purl.obolibrary.org/obo/GARD_0000001 EquivalentTo 'gracile syndrome'
http://purl.obolibrary.org/obo/MONDO_0011300
MYP3
http://purl.obolibrary.org/obo/MESH_C566397 EquivalentTo 'MYP3'
http://purl.obolibrary.org/obo/MONDO_0001988
external pathological resorption
'external pathological resorption' EquivalentTo http://purl.obolibrary.org/obo/SCTID_41918006
http://purl.obolibrary.org/obo/MONDO_0001995
sphenoid sinus squamous cell carcinoma
'sphenoid sinus squamous cell carcinoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_707355002
http://purl.obolibrary.org/obo/MONDO_0001998
Foster-Kennedy syndrome
'Foster-Kennedy syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001330
http://purl.obolibrary.org/obo/MONDO_0011320
radioulnar synostosis-microcephaly-scoliosis syndrome
http://purl.obolibrary.org/obo/GARD_0000394 EquivalentTo 'radioulnar synostosis-microcephaly-scoliosis syndrome'
http://purl.obolibrary.org/obo/MONDO_0011339
hereditary spastic paraplegia 8
http://purl.obolibrary.org/obo/GARD_0009591 EquivalentTo 'hereditary spastic paraplegia 8'
http://purl.obolibrary.org/obo/MONDO_0011330
spinocerebellar ataxia type 10
http://purl.obolibrary.org/obo/GARD_0010474 EquivalentTo 'spinocerebellar ataxia type 10'
http://purl.obolibrary.org/obo/MONDO_0011334
limb-mammary syndrome
http://purl.obolibrary.org/obo/GARD_0010051 EquivalentTo 'limb-mammary syndrome'
http://purl.obolibrary.org/obo/MONDO_0011335
spondyloepimetaphyseal dysplasia with multiple dislocations
'spondyloepimetaphyseal dysplasia with multiple dislocations' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C125419
http://purl.obolibrary.org/obo/MONDO_0011348
non-syndromic polydactyly
http://purl.obolibrary.org/obo/GARD_0004410 EquivalentTo 'non-syndromic polydactyly'
http://purl.obolibrary.org/obo/MONDO_0011342
SLC35A1-CDG
http://purl.obolibrary.org/obo/GARD_0012409 EquivalentTo 'SLC35A1-CDG'
http://purl.obolibrary.org/obo/MONDO_0011359
acromelic frontonasal dysostosis
http://purl.obolibrary.org/obo/GARD_0005539 EquivalentTo 'acromelic frontonasal dysostosis'
http://purl.obolibrary.org/obo/MONDO_0011358
blue nevi, familial multiple
'blue nevi, familial multiple' SubClassOf 'disease has feature' some 'blue nevus'
http://purl.obolibrary.org/obo/MONDO_0011350
autosomal dominant nonsyndromic deafness 17
http://purl.obolibrary.org/obo/GARD_0009726 EquivalentTo 'autosomal dominant nonsyndromic deafness 17'
http://purl.obolibrary.org/obo/MONDO_0011366
ovarian germ cell tumor
http://purl.obolibrary.org/obo/GARD_0009330 EquivalentTo 'ovarian germ cell tumor'
http://purl.obolibrary.org/obo/MONDO_0011376
idiopathic ventricular fibrillation, non Brugada type
http://purl.obolibrary.org/obo/GARD_0004227 EquivalentTo 'idiopathic ventricular fibrillation, non Brugada type'
http://purl.obolibrary.org/obo/MESH_C567851 EquivalentTo 'idiopathic ventricular fibrillation, non Brugada type'
http://purl.obolibrary.org/obo/MONDO_0011379
medullary cystic kidney disease 2
'medullary cystic kidney disease 2' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008618
http://purl.obolibrary.org/obo/MONDO_0011380
leukoencephalopathy with vanishing white matter
http://purl.obolibrary.org/obo/GARD_0000231 EquivalentTo 'leukoencephalopathy with vanishing white matter'
http://purl.obolibrary.org/obo/MONDO_0011382
sickle cell anemia
http://purl.obolibrary.org/obo/GARD_0008614 EquivalentTo 'sickle cell anemia'
'sickle cell anemia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001797
http://purl.obolibrary.org/obo/MONDO_0011399
alpha thalassemia
http://purl.obolibrary.org/obo/GARD_0000621 EquivalentTo 'alpha thalassemia'
http://purl.obolibrary.org/obo/MONDO_0011393
apolipoprotein A-I deficiency
http://purl.obolibrary.org/obo/GARD_0002872 EquivalentTo 'apolipoprotein A-I deficiency'
http://purl.obolibrary.org/obo/MONDO_0011176
intestinal hypomagnesemia 1
http://purl.obolibrary.org/obo/GARD_0013072 EquivalentTo 'intestinal hypomagnesemia 1'
http://purl.obolibrary.org/obo/MONDO_0011175
FRDA2
http://purl.obolibrary.org/obo/MESH_C566594 EquivalentTo 'FRDA2'
http://purl.obolibrary.org/obo/MONDO_0011178
infantile convulsions and choreoathetosis
http://purl.obolibrary.org/obo/GARD_0008553 EquivalentTo 'infantile convulsions and choreoathetosis'
http://purl.obolibrary.org/obo/MONDO_0011177
ectodermal dysplasia 4, hair/nail type
http://purl.obolibrary.org/obo/GARD_0004364 EquivalentTo 'ectodermal dysplasia 4, hair/nail type'
http://purl.obolibrary.org/obo/MONDO_0011170
autosomal recessive limb-girdle muscular dystrophy type 2G
http://purl.obolibrary.org/obo/GARD_0010471 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2G'
http://purl.obolibrary.org/obo/MONDO_0011182
trimethylaminuria (disease)
http://purl.obolibrary.org/obo/GARD_0006447 EquivalentTo 'trimethylaminuria (disease)'
http://purl.obolibrary.org/obo/MONDO_0011184
childhood apraxia of speech
http://purl.obolibrary.org/obo/GARD_0012889 EquivalentTo 'childhood apraxia of speech'
http://purl.obolibrary.org/obo/MONDO_0001812
parasitic eyelid infestation
'parasitic eyelid infestation' SubClassOf 'infectious disease of the nervous system'
'parasitic eyelid infestation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043885
http://purl.obolibrary.org/obo/MONDO_0001825
squamous papilloma
'squamous papilloma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001970
http://purl.obolibrary.org/obo/MONDO_0001822
hypolipoproteinemia (disease)
http://purl.obolibrary.org/obo/GARD_0008394 EquivalentTo 'hypolipoproteinemia (disease)'
http://purl.obolibrary.org/obo/MONDO_0001845
uterine corpus lipoleiomyoma
'uterine corpus lipoleiomyoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000614
http://purl.obolibrary.org/obo/MONDO_0001858
Tietze syndrome
http://purl.obolibrary.org/obo/GARD_0010100 EquivalentTo 'Tietze syndrome'
http://purl.obolibrary.org/obo/MONDO_0001857
Brucella canis brucellosis
'Brucella canis brucellosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_428174001
http://purl.obolibrary.org/obo/MONDO_0001868
primary angle-closure glaucoma
'primary angle-closure glaucoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001506
http://purl.obolibrary.org/obo/MONDO_0001871
acute diffuse glomerulonephritis
'acute diffuse glomerulonephritis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_197585004
http://purl.obolibrary.org/obo/MONDO_0001874
toxic labyrinthitis
'toxic labyrinthitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_9062008
'toxic labyrinthitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0006951
http://purl.obolibrary.org/obo/MONDO_0001881
toxic shock syndrome
http://purl.obolibrary.org/obo/GARD_0009560 EquivalentTo 'toxic shock syndrome'
http://purl.obolibrary.org/obo/MONDO_0011208
malignant atrophic papulosis
http://purl.obolibrary.org/obo/GARD_0006249 EquivalentTo 'malignant atrophic papulosis'
http://purl.obolibrary.org/obo/MONDO_0011202
RHYNS syndrome
http://purl.obolibrary.org/obo/GARD_0009681 EquivalentTo 'RHYNS syndrome'
http://purl.obolibrary.org/obo/MONDO_0011201
ETM2
http://purl.obolibrary.org/obo/MESH_C536546 EquivalentTo 'ETM2'
http://purl.obolibrary.org/obo/GARD_0009500 EquivalentTo 'ETM2'
http://purl.obolibrary.org/obo/MONDO_0011203
Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
'Pierre Robin sequence with pectus excavatum and rib and scapular anomalies' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/HP_0000201
http://purl.obolibrary.org/obo/MONDO_0011217
Desmosterolosis
'Desmosterolosis' SubClassOf 'rare genetic developmental defect during embryogenesis'
'Desmosterolosis' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0011218
autosomal recessive congenital ichthyosis 11
http://purl.obolibrary.org/obo/GARD_0010116 EquivalentTo 'autosomal recessive congenital ichthyosis 11'
http://purl.obolibrary.org/obo/MONDO_0011215
Osteocraniostenosis
http://purl.obolibrary.org/obo/GARD_0003396 EquivalentTo 'Osteocraniostenosis'
http://purl.obolibrary.org/obo/MONDO_0001899
rheumatic congestive heart failure
'rheumatic congestive heart failure' SubClassOf 'rheumatic heart disease'
http://purl.obolibrary.org/obo/MONDO_0011227
short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
'short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_417081007
'short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'rare genetic bone disease'
'short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability'
'short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'syndromic genetic deafness'
'short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'Pinnae and external auditory canal anomaly'
'short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
'short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'malformation syndrome with short stature'
http://purl.obolibrary.org/obo/MONDO_0011220
PARK3
http://purl.obolibrary.org/obo/GARD_0008578 EquivalentTo 'PARK3'
http://purl.obolibrary.org/obo/MONDO_0011222
GLC1D
http://purl.obolibrary.org/obo/MESH_C566551 EquivalentTo 'GLC1D'
http://purl.obolibrary.org/obo/MONDO_0011224
monomelic amyotrophy
'monomelic amyotrophy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001989
http://purl.obolibrary.org/obo/MONDO_0011239
colobomatous macrophthalmia-microcornea syndrome
http://purl.obolibrary.org/obo/MESH_C566533 EquivalentTo 'colobomatous macrophthalmia-microcornea syndrome'
http://purl.obolibrary.org/obo/MONDO_0011230
ossification of the posterior longitudinal ligament of the spine
'ossification of the posterior longitudinal ligament of the spine' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84975
'ossification of the posterior longitudinal ligament of the spine' EquivalentTo http://purl.obolibrary.org/obo/SCTID_90448008
http://purl.obolibrary.org/obo/MONDO_0011232
migraine, familial hemiplegic, 2
http://purl.obolibrary.org/obo/GARD_0010095 EquivalentTo 'migraine, familial hemiplegic, 2'
http://purl.obolibrary.org/obo/MONDO_0011235
pelvic dysplasia-arthrogryposis of lower limbs syndrome
http://purl.obolibrary.org/obo/GARD_0004269 EquivalentTo 'pelvic dysplasia-arthrogryposis of lower limbs syndrome'
http://purl.obolibrary.org/obo/MONDO_0011236
hyperinsulinism due to glucokinase deficiency
http://purl.obolibrary.org/obo/MESH_C538374 EquivalentTo 'hyperinsulinism due to glucokinase deficiency'
http://purl.obolibrary.org/obo/GARD_0002818 EquivalentTo 'hyperinsulinism due to glucokinase deficiency'
http://purl.obolibrary.org/obo/MONDO_0011244
Marshall-Smith syndrome
'Marshall-Smith syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0011243
Grange syndrome
'Grange syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0011240
megalencephaly-capillary malformation-polymicrogyria syndrome
http://purl.obolibrary.org/obo/GARD_0006950 EquivalentTo 'megalencephaly-capillary malformation-polymicrogyria syndrome'
http://purl.obolibrary.org/obo/MONDO_0011257
MPI-CDG
http://purl.obolibrary.org/obo/GARD_0009830 EquivalentTo 'MPI-CDG'
http://purl.obolibrary.org/obo/MONDO_0011264
torsion dystonia 6
http://purl.obolibrary.org/obo/GARD_0009630 EquivalentTo 'torsion dystonia 6'
http://purl.obolibrary.org/obo/MONDO_0011268
renal tubular acidosis, distal, autosomal recessive
http://purl.obolibrary.org/obo/GARD_0004669 EquivalentTo 'renal tubular acidosis, distal, autosomal recessive'
http://purl.obolibrary.org/obo/MONDO_0011262
camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye
http://purl.obolibrary.org/obo/GARD_0000216 EquivalentTo 'camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye'
http://purl.obolibrary.org/obo/MONDO_0011276
OFC2
http://purl.obolibrary.org/obo/MESH_C566419 EquivalentTo 'OFC2'
http://purl.obolibrary.org/obo/MONDO_0011278
bile duct cysts
http://purl.obolibrary.org/obo/GARD_0009229 EquivalentTo 'bile duct cysts'
http://purl.obolibrary.org/obo/MONDO_0011271
rigid spine muscular dystrophy 1
'rigid spine muscular dystrophy 1' EquivalentTo http://purl.obolibrary.org/obo/SCTID_240063002
http://purl.obolibrary.org/obo/MONDO_0011273
H syndrome
http://purl.obolibrary.org/obo/GARD_0010239 EquivalentTo 'H syndrome'
'H syndrome' SubClassOf 'rare genetic skin disease'
http://purl.obolibrary.org/obo/MONDO_0011287
craniosynostosis-anal anomalies-porokeratosis syndrome
http://purl.obolibrary.org/obo/GARD_0009506 EquivalentTo 'craniosynostosis-anal anomalies-porokeratosis syndrome'
http://purl.obolibrary.org/obo/MONDO_0011055
distal monosomy 10p
'distal monosomy 10p' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C130982
http://purl.obolibrary.org/obo/GARD_0001323 EquivalentTo 'distal monosomy 10p'
http://purl.obolibrary.org/obo/MONDO_0011057
cerebrovascular disorder
'cerebrovascular disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0011059
holoprosencephaly-craniosynostosis syndrome
http://purl.obolibrary.org/obo/GARD_0002454 EquivalentTo 'holoprosencephaly-craniosynostosis syndrome'
http://purl.obolibrary.org/obo/MONDO_0011050
microcephaly-cardiac defect-lung malsegmentation syndrome
http://purl.obolibrary.org/obo/MESH_C563341 EquivalentTo 'microcephaly-cardiac defect-lung malsegmentation syndrome'
http://purl.obolibrary.org/obo/GARD_0002098 EquivalentTo 'microcephaly-cardiac defect-lung malsegmentation syndrome'
'microcephaly-cardiac defect-lung malsegmentation syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0011053
intellectual disability-sparse hair-brachydactyly syndrome
http://purl.obolibrary.org/obo/GARD_0000270 EquivalentTo 'intellectual disability-sparse hair-brachydactyly syndrome'
http://purl.obolibrary.org/obo/MONDO_0011052
amelia cleft lip palate hydrocephalus iris coloboma
http://purl.obolibrary.org/obo/GARD_0000388 EquivalentTo 'amelia cleft lip palate hydrocephalus iris coloboma'
http://purl.obolibrary.org/obo/MONDO_0011065
Hunter-McAlpine craniosynostosis
http://purl.obolibrary.org/obo/GARD_0002754 EquivalentTo 'Hunter-McAlpine craniosynostosis'
http://purl.obolibrary.org/obo/MONDO_0011061
chorea, remitting, with nystagmus and cataract
http://purl.obolibrary.org/obo/GARD_0009606 EquivalentTo 'chorea, remitting, with nystagmus and cataract'
http://purl.obolibrary.org/obo/MONDO_0011078
anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis
http://purl.obolibrary.org/obo/GARD_0003062 EquivalentTo 'anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis'
http://purl.obolibrary.org/obo/MONDO_0011071
hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome
http://purl.obolibrary.org/obo/GARD_0010352 EquivalentTo 'hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome'
http://purl.obolibrary.org/obo/MONDO_0011081
dislocation of the hip-dysmorphism syndrome
'dislocation of the hip-dysmorphism syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'dislocation of the hip-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0011086
severe combined immunodeficiency, autosomal recessive, T cell-negative, b cell-negative, Nk cell-positive
http://purl.obolibrary.org/obo/GARD_0010339 EquivalentTo 'severe combined immunodeficiency, autosomal recessive, T cell-negative, b cell-negative, Nk cell-positive'
http://purl.obolibrary.org/obo/MESH_C563311 EquivalentTo 'severe combined immunodeficiency, autosomal recessive, T cell-negative, b cell-negative, Nk cell-positive'
http://purl.obolibrary.org/obo/MONDO_0011099
Athabaskan brainstem dysgenesis syndrome
http://purl.obolibrary.org/obo/GARD_0008333 EquivalentTo 'Athabaskan brainstem dysgenesis syndrome'
'Athabaskan brainstem dysgenesis syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_720518006
http://purl.obolibrary.org/obo/MONDO_0011096
autosomal agammaglobulinemia
http://purl.obolibrary.org/obo/GARD_0009640 EquivalentTo 'autosomal agammaglobulinemia'
http://purl.obolibrary.org/obo/MONDO_0001701
gastrointestinal anthrax
'gastrointestinal anthrax' SubClassOf 'disease has location' some http://purl.obolibrary.org/obo/UBERON_0001007
'gastrointestinal anthrax' SubClassOf 'disease affecting anatomical system'
'gastrointestinal anthrax' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
http://purl.obolibrary.org/obo/MONDO_0001713
inherited aplastic anemia
http://purl.obolibrary.org/obo/GARD_0006149 EquivalentTo 'inherited aplastic anemia'
http://purl.obolibrary.org/obo/MONDO_0001718
scleritis (disease)
http://purl.obolibrary.org/obo/GARD_0012911 EquivalentTo 'scleritis (disease)'
http://purl.obolibrary.org/obo/MONDO_0001720
gonococcal synovitis
'gonococcal synovitis' SubClassOf 'gonorrhea'
'gonococcal synovitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0041903
http://purl.obolibrary.org/obo/MONDO_0001734
tuberous sclerosis
'tuberous sclerosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042983
'tuberous sclerosis' SubClassOf 'inherited neurodegenerative disorder'
'tuberous sclerosis' SubClassOf 'disease has feature' some 'hamartoma (disease)'
'tuberous sclerosis' SubClassOf 'hereditary neoplastic syndrome'
http://purl.obolibrary.org/obo/MONDO_0001741
hyperparathyroidism
'hyperparathyroidism' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008506
http://purl.obolibrary.org/obo/MONDO_0001783
endometrial stromal nodule
'endometrial stromal nodule' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000241
http://purl.obolibrary.org/obo/MONDO_0011107
congenital hypotrichosis with juvenile macular dystrophy
http://purl.obolibrary.org/obo/GARD_0003066 EquivalentTo 'congenital hypotrichosis with juvenile macular dystrophy'
http://purl.obolibrary.org/obo/MONDO_0011108
StCve-Wiedemann syndrome
http://purl.obolibrary.org/obo/GARD_0005045 EquivalentTo 'StCve-Wiedemann syndrome'
'StCve-Wiedemann syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254097005
http://purl.obolibrary.org/obo/MONDO_0011103
autosomal dominant nonsyndromic deafness 3A
http://purl.obolibrary.org/obo/GARD_0009933 EquivalentTo 'autosomal dominant nonsyndromic deafness 3A'
http://purl.obolibrary.org/obo/MONDO_0001795
plantar wart
'plantar wart' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1002023
http://purl.obolibrary.org/obo/MONDO_0001791
neonatal urinary tract infectious disease
'neonatal urinary tract infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_12301009
http://purl.obolibrary.org/obo/MONDO_0011112
wilms tumor 5
http://purl.obolibrary.org/obo/GARD_0005578 EquivalentTo 'wilms tumor 5'
http://purl.obolibrary.org/obo/MONDO_0011114
familial multiple trichoepithelioma
'familial multiple trichoepithelioma' EquivalentTo http://purl.obolibrary.org/obo/OMIM_601606
http://purl.obolibrary.org/obo/GARD_0010867 EquivalentTo 'familial multiple trichoepithelioma'
http://linkedlifedata.com/resource/umls/id/C1275122 EquivalentTo 'familial multiple trichoepithelioma'
http://purl.obolibrary.org/obo/MONDO_0011128
Sheldon-hall syndrome
http://purl.obolibrary.org/obo/GARD_0009909 EquivalentTo 'Sheldon-hall syndrome'
http://purl.obolibrary.org/obo/MONDO_0011121
paragangliomas 2
'paragangliomas 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0011122
obesity (disease)
'obesity (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3283
http://purl.obolibrary.org/obo/MONDO_0011124
spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
http://purl.obolibrary.org/obo/MESH_C566644 EquivalentTo 'spondyloepimetaphyseal dysplasia-abnormal dentition syndrome'
http://purl.obolibrary.org/obo/MONDO_0011127
Bartter disease type 1
http://purl.obolibrary.org/obo/GARD_0000830 EquivalentTo 'Bartter disease type 1'
http://purl.obolibrary.org/obo/MONDO_0011131
Tricho-oculo-dermo-vertebral syndrome
http://purl.obolibrary.org/obo/MESH_C537441 EquivalentTo 'Tricho-oculo-dermo-vertebral syndrome'
http://purl.obolibrary.org/obo/GARD_0001553 EquivalentTo 'Tricho-oculo-dermo-vertebral syndrome'
http://purl.obolibrary.org/obo/MONDO_0011134
Curry-Jones syndrome
'Curry-Jones syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/MONDO_0011133
Deaf blind hypopigmentation syndrome, Yemenite type
http://purl.obolibrary.org/obo/GARD_0005535 EquivalentTo 'Deaf blind hypopigmentation syndrome, Yemenite type'
'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf 'rare genetic skin disease'
http://purl.obolibrary.org/obo/MONDO_0011143
cone-rod dystrophy 6
http://purl.obolibrary.org/obo/GARD_0010656 EquivalentTo 'cone-rod dystrophy 6'
http://purl.obolibrary.org/obo/MONDO_0011142
Ehlers-Danlos syndrome, musculocontractural type
http://purl.obolibrary.org/obo/GARD_0008486 EquivalentTo 'Ehlers-Danlos syndrome, musculocontractural type'
http://purl.obolibrary.org/obo/MONDO_0011147
chromosome 18q deletion syndrome
http://purl.obolibrary.org/obo/GARD_0010866 EquivalentTo 'chromosome 18q deletion syndrome'
http://purl.obolibrary.org/obo/MONDO_0011146
tetrasomy 12p
'tetrasomy 12p' SubClassOf http://purl.obolibrary.org/obo/MONDO_0030502
http://purl.obolibrary.org/obo/GARD_0008421 EquivalentTo 'tetrasomy 12p'
http://purl.obolibrary.org/obo/MONDO_0011149
premature aging syndrome, Okamoto type
http://purl.obolibrary.org/obo/GARD_0004478 EquivalentTo 'premature aging syndrome, Okamoto type'
http://purl.obolibrary.org/obo/MESH_C566621 EquivalentTo 'premature aging syndrome, Okamoto type'
http://purl.obolibrary.org/obo/MONDO_0011140
benign familial neonatal-infantile seizures
'benign familial neonatal-infantile seizures' EquivalentTo http://purl.obolibrary.org/obo/OMIM_601764
http://purl.obolibrary.org/obo/GARD_0001518 EquivalentTo 'benign familial neonatal-infantile seizures'
http://purl.obolibrary.org/obo/MONDO_0011154
acrofacial dysostosis, Palagonia type
http://purl.obolibrary.org/obo/GARD_0000499 EquivalentTo 'acrofacial dysostosis, Palagonia type'
http://purl.obolibrary.org/obo/MONDO_0011157
Gomez-Lopez-Hernandez syndrome
http://purl.obolibrary.org/obo/MESH_C537285 EquivalentTo 'Gomez-Lopez-Hernandez syndrome'
http://purl.obolibrary.org/obo/MONDO_0011150
acroosteolysis-keloid-like lesions-premature aging syndrome
http://purl.obolibrary.org/obo/GARD_0004276 EquivalentTo 'acroosteolysis-keloid-like lesions-premature aging syndrome'
http://purl.obolibrary.org/obo/GARD_0004498 EquivalentTo 'acroosteolysis-keloid-like lesions-premature aging syndrome'
http://purl.obolibrary.org/obo/MONDO_0011165
glomerulopathy with fibronectin deposits 2
http://purl.obolibrary.org/obo/GARD_0009914 EquivalentTo 'glomerulopathy with fibronectin deposits 2'
http://purl.obolibrary.org/obo/MONDO_0025598
pneumonia caused by chlamydia
http://purl.obolibrary.org/obo/MESH_D061387 EquivalentTo 'pneumonia caused by chlamydia'
http://purl.obolibrary.org/obo/MONDO_0001604
lagophthalmos
'lagophthalmos' EquivalentTo http://purl.obolibrary.org/obo/SCTID_60735000
http://purl.obolibrary.org/obo/MONDO_0001609
agranulocytosis
'agranulocytosis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C2863
http://purl.obolibrary.org/obo/GARD_0006545 EquivalentTo 'agranulocytosis'
http://purl.obolibrary.org/obo/MONDO_0001616
lobomycosis
'lobomycosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001805
http://purl.obolibrary.org/obo/MONDO_0001615
shipyard eye
'shipyard eye' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043479
'shipyard eye' SubClassOf 'endophthalmitis'
'shipyard eye' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043541
http://purl.obolibrary.org/obo/MONDO_0001613
vertebrobasilar insufficiency
'vertebrobasilar insufficiency' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001449
http://purl.obolibrary.org/obo/MONDO_0001618
balanoposthitis
'balanoposthitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_46090001
http://purl.obolibrary.org/obo/MONDO_0001617
transient global amnesia (disease)
http://purl.obolibrary.org/obo/GARD_0008172 EquivalentTo 'transient global amnesia (disease)'
http://purl.obolibrary.org/obo/MONDO_0001649
fungal esophagitis
'fungal esophagitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424
http://purl.obolibrary.org/obo/MONDO_0001657
brain cancer
http://purl.obolibrary.org/obo/GARD_0009307 EquivalentTo 'brain cancer'
http://purl.obolibrary.org/obo/MONDO_0001673
diarrhea (disease)
http://purl.obolibrary.org/obo/MESH_D003967 EquivalentTo 'diarrhea (disease)'
'diarrhea (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C2987
http://purl.obolibrary.org/obo/MONDO_0001671
mucocele of appendix
'mucocele of appendix' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3241
http://purl.obolibrary.org/obo/MONDO_0001670
tooth resorption
'tooth resorption' EquivalentTo http://purl.obolibrary.org/obo/SCTID_70931000
http://purl.obolibrary.org/obo/MONDO_0011008
cleft lip/palate-intestinal malrotation-cardiopathy syndrome
http://purl.obolibrary.org/obo/GARD_0003430 EquivalentTo 'cleft lip/palate-intestinal malrotation-cardiopathy syndrome'
'cleft lip/palate-intestinal malrotation-cardiopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0011007
diaphragmatic defect-limb deficiency-skull defect syndrome
'diaphragmatic defect-limb deficiency-skull defect syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'diaphragmatic defect-limb deficiency-skull defect syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0011018
brachyolmia-amelogenesis imperfecta syndrome
http://purl.obolibrary.org/obo/GARD_0005478 EquivalentTo 'brachyolmia-amelogenesis imperfecta syndrome'
http://purl.obolibrary.org/obo/MONDO_0011011
skeletal dysplasia-epilepsy-short stature syndrome
http://purl.obolibrary.org/obo/GARD_0000350 EquivalentTo 'skeletal dysplasia-epilepsy-short stature syndrome'
http://purl.obolibrary.org/obo/MONDO_0011010
Matthew-wood syndrome
http://purl.obolibrary.org/obo/GARD_0000713 EquivalentTo 'Matthew-wood syndrome'
'Matthew-wood syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008
http://purl.obolibrary.org/obo/MONDO_0011012
african iron overload
http://purl.obolibrary.org/obo/GARD_0008495 EquivalentTo 'african iron overload'
http://purl.obolibrary.org/obo/MONDO_0011014
pleuropulmonary blastoma
http://purl.obolibrary.org/obo/GARD_0008757 EquivalentTo 'pleuropulmonary blastoma'
http://purl.obolibrary.org/obo/MONDO_0011022
Potocki-Shaffer syndrome
'Potocki-Shaffer syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/GARD_0009762 EquivalentTo 'Potocki-Shaffer syndrome'
http://purl.obolibrary.org/obo/MONDO_0011023
hereditary mixed polyposis syndrome
'hereditary mixed polyposis syndrome' EquivalentTo http://purl.obolibrary.org/obo/OMIM_601228
http://purl.obolibrary.org/obo/MONDO_0011026
autosomal recessive congenital ichthyosis 4A
http://purl.obolibrary.org/obo/GARD_0009733 EquivalentTo 'autosomal recessive congenital ichthyosis 4A'
http://purl.obolibrary.org/obo/MONDO_0011020
osteoporosis-oculocutaneous hypopigmentation syndrome
'osteoporosis-oculocutaneous hypopigmentation syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_722113001
http://purl.obolibrary.org/obo/MESH_C537696
http://purl.obolibrary.org/obo/MESH_C537696 EquivalentTo 'familial juvenile hyperuricemic nephropathy type 1'
http://purl.obolibrary.org/obo/MESH_C537696 EquivalentTo 'familial juvenile hyperuricemic nephropathy'
http://purl.obolibrary.org/obo/MONDO_0011037
renal dysplasia, cystic, susceptibility to
http://purl.obolibrary.org/obo/GARD_0004658 EquivalentTo 'renal dysplasia, cystic, susceptibility to'
http://purl.obolibrary.org/obo/MONDO_0011036
porencephaly-cerebellar hypoplasia-internal malformations syndrome
http://purl.obolibrary.org/obo/GARD_0004437 EquivalentTo 'porencephaly-cerebellar hypoplasia-internal malformations syndrome'
http://purl.obolibrary.org/obo/MONDO_0011038
cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
http://purl.obolibrary.org/obo/GARD_0001188 EquivalentTo 'cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome'
http://purl.obolibrary.org/obo/MONDO_0011046
short stature, Brussels type
http://purl.obolibrary.org/obo/GARD_0004838 EquivalentTo 'short stature, Brussels type'
http://purl.obolibrary.org/obo/MONDO_0011045
MMEP syndrome
http://purl.obolibrary.org/obo/GARD_0003693 EquivalentTo 'MMEP syndrome'
http://purl.obolibrary.org/obo/MONDO_0011048
epilepsy-microcephaly-skeletal dysplasia syndrome
http://purl.obolibrary.org/obo/GARD_0000836 EquivalentTo 'epilepsy-microcephaly-skeletal dysplasia syndrome'
http://purl.obolibrary.org/obo/MONDO_0011047
deafness-epiphyseal dysplasia-short stature syndrome
http://purl.obolibrary.org/obo/GARD_0001688 EquivalentTo 'deafness-epiphyseal dysplasia-short stature syndrome'
http://purl.obolibrary.org/obo/MONDO_0011042
Martinez-Frias syndrome
'Martinez-Frias syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_137862
http://purl.obolibrary.org/obo/MONDO_0025489
enzootic bovine leukosis
'enzootic bovine leukosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001315
http://purl.obolibrary.org/obo/MONDO_0025481
zoonoses
'zoonoses' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35803
http://purl.obolibrary.org/obo/MONDO_0001500
gender identity disorder
'gender identity disorder' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008587
http://purl.obolibrary.org/obo/MONDO_0001504
fetishism
http://purl.obolibrary.org/obo/MESH_D005329 EquivalentTo 'fetishism'
http://purl.obolibrary.org/obo/MONDO_0001517
dysentery
'dysentery' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001869
http://purl.obolibrary.org/obo/MONDO_0001516
spinal muscular atrophy
'spinal muscular atrophy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008525
http://purl.obolibrary.org/obo/MONDO_0001538
retinal ischemia
'retinal ischemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/MONDO_0001549
hemolytic-uremic syndrome
http://purl.obolibrary.org/obo/GARD_0006588 EquivalentTo 'hemolytic-uremic syndrome'
http://purl.obolibrary.org/obo/MONDO_0001558
Potter syndrome
http://purl.obolibrary.org/obo/GARD_0004462 EquivalentTo 'Potter syndrome'
http://purl.obolibrary.org/obo/MONDO_0001564
binocular vision disease
'binocular vision disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34422
http://purl.obolibrary.org/obo/MONDO_0001563
vestibulocochlear nerve disease
'vestibulocochlear nerve disease' SubClassOf 'cranial nerve neuropathy'
'vestibulocochlear nerve disease' SubClassOf 'cranial nerve neuropathy'
'vestibulocochlear nerve disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C27207
http://purl.obolibrary.org/obo/MONDO_0025510
pythiosis
'pythiosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001410
http://purl.obolibrary.org/obo/GARD_0011989 EquivalentTo 'pythiosis'
http://purl.obolibrary.org/obo/MONDO_0001566
hypercalcemia (disease)
'hypercalcemia (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3112
http://purl.obolibrary.org/obo/MONDO_0001569
acoustic neuroma
http://purl.obolibrary.org/obo/GARD_0000223 EquivalentTo 'acoustic neuroma'
http://purl.obolibrary.org/obo/MONDO_0001577
respiratory syncytial virus infectious disease
'respiratory syncytial virus infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_55735004
http://purl.obolibrary.org/obo/MESH_D018357 EquivalentTo 'respiratory syncytial virus infectious disease'
http://purl.obolibrary.org/obo/MONDO_0001576
telangiectasis
'telangiectasis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_247479008
http://purl.obolibrary.org/obo/MONDO_0001586
mucopolysaccharidosis type 1
http://purl.obolibrary.org/obo/GARD_0010335 EquivalentTo 'mucopolysaccharidosis type 1'
http://purl.obolibrary.org/obo/MONDO_0001584
ocular motility disease
'ocular motility disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001990
http://purl.obolibrary.org/obo/MONDO_0001592
prolapse of female genital organ
'prolapse of female genital organ' EquivalentTo http://purl.obolibrary.org/obo/SCTID_73998008
http://purl.obolibrary.org/obo/MONDO_0001370
pericardial effusion (disease)
'pericardial effusion (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3319
http://purl.obolibrary.org/obo/MONDO_0001386
visual epilepsy
http://purl.obolibrary.org/obo/MESH_D012640 EquivalentTo 'visual epilepsy'
http://purl.obolibrary.org/obo/MONDO_0001383
degenerative myopia
'degenerative myopia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0004207
http://purl.obolibrary.org/obo/MONDO_0025369
Nairobi sheep disease
'Nairobi sheep disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_24069003
http://purl.obolibrary.org/obo/MONDO_0025370
urogenital neoplasm
'urogenital neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003863
http://purl.obolibrary.org/obo/OMIM_202700
'autosomal dominant severe congenital neutropenia' EquivalentTo http://purl.obolibrary.org/obo/OMIM_202700
http://purl.obolibrary.org/obo/MONDO_0042490 EquivalentTo http://purl.obolibrary.org/obo/OMIM_202700
http://purl.obolibrary.org/obo/MONDO_0001405
dermatophytosis of groin and perianal area
'dermatophytosis of groin and perianal area' EquivalentTo http://purl.obolibrary.org/obo/SCTID_399029005
http://purl.obolibrary.org/obo/MONDO_0001404
ecthyma
'ecthyma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000689
http://purl.obolibrary.org/obo/MONDO_0001410
postmenopausal atrophic vaginitis
'postmenopausal atrophic vaginitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001271
http://purl.obolibrary.org/obo/MONDO_0001414
osteopoikilosis (disease)
http://purl.obolibrary.org/obo/GARD_0004158 EquivalentTo 'osteopoikilosis (disease)'
http://purl.obolibrary.org/obo/MONDO_0001416
female reproductive organ cancer
'female reproductive organ cancer' EquivalentTo http://purl.obolibrary.org/obo/SCTID_126907002
http://purl.obolibrary.org/obo/MONDO_0001415
atrophy of testis
'atrophy of testis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C123259
http://purl.obolibrary.org/obo/MONDO_0001433
vaginal disease
'vaginal disease' SubClassOf 'female reproductive system disease'
'vaginal disease' SubClassOf 'female reproductive system disease'
http://purl.obolibrary.org/obo/MONDO_0001442
dysthymic disorder
'dysthymic disorder' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008623
http://purl.obolibrary.org/obo/MONDO_0001441
pica disease
'pica disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C92566
'pica disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_14077003
http://purl.obolibrary.org/obo/MESH_D010842 EquivalentTo 'pica disease'
http://purl.obolibrary.org/obo/MONDO_0001447
detrusor sphincter dyssynergia (disease)
'detrusor sphincter dyssynergia (disease)' EquivalentTo http://purl.obolibrary.org/obo/SCTID_236655005
http://purl.obolibrary.org/obo/MONDO_0001445
neurogenic bladder (disease)
'neurogenic bladder (disease)' EquivalentTo http://purl.obolibrary.org/obo/SCTID_398064005
http://purl.obolibrary.org/obo/MONDO_0001444
Chagas disease
'Chagas disease' SubClassOf 'trypanosomiasis'
'Chagas disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_77506005
http://purl.obolibrary.org/obo/MESH_D014355 EquivalentTo 'Chagas disease'
'Chagas disease' SubClassOf 'trypanosomiasis'
'Chagas disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008559
http://purl.obolibrary.org/obo/MONDO_0001479
cutaneous diphtheria
'cutaneous diphtheria' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000683
http://purl.obolibrary.org/obo/MONDO_0001252
Plummer disease
'Plummer disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35171
http://purl.obolibrary.org/obo/MONDO_0001250
keratomalacia
'keratomalacia' SubClassOf 'corneal degeneration'
'keratomalacia' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/HP_0007957
'keratomalacia' SubClassOf 'eye disease'
'keratomalacia' SubClassOf 'disease arises from feature' some http://purl.obolibrary.org/obo/HP_0004905
'keratomalacia' SubClassOf 'disease has feature' some 'corneal degeneration'
'keratomalacia' SubClassOf 'disease caused by disruption of' some http://purl.obolibrary.org/obo/GO_0010669
http://purl.obolibrary.org/obo/MONDO_0015892
growth hormone insensitivity syndrome
http://purl.obolibrary.org/obo/GARD_0003924 EquivalentTo 'growth hormone insensitivity syndrome'
http://purl.obolibrary.org/obo/MONDO_0001266
erysipelas
'erysipelas' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001462
http://purl.obolibrary.org/obo/MONDO_0001269
scleral disease
'scleral disease' SubClassOf 'eye disease'
'scleral disease' SubClassOf 'eye disease'
'scleral disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C79717
http://purl.obolibrary.org/obo/MONDO_0001278
adult respiratory distress syndrome
'adult respiratory distress syndrome' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/HP_0002093
'adult respiratory distress syndrome' EquivalentTo 'newborn respiratory distress syndrome' and ('has modifier' some http://purl.obolibrary.org/obo/HP_0003581)
http://linkedlifedata.com/resource/umls/id/C0035222 EquivalentTo 'adult respiratory distress syndrome'
'adult respiratory distress syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/HP_0003581
http://purl.obolibrary.org/obo/MESH_D012128 EquivalentTo 'adult respiratory distress syndrome'
'adult respiratory distress syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_95437004
'adult respiratory distress syndrome' SubClassOf 'newborn respiratory distress syndrome'
http://purl.obolibrary.org/obo/DOID_11394 EquivalentTo 'adult respiratory distress syndrome'
http://purl.obolibrary.org/obo/MONDO_0001277
cerebral arteritis
'cerebral arteritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043494
http://purl.obolibrary.org/obo/MONDO_0001288
endometriosis of rectovaginal septum and vagina
'endometriosis of rectovaginal septum and vagina' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C128064
http://purl.obolibrary.org/obo/MONDO_0001280
choroiditis
http://purl.obolibrary.org/obo/GARD_0006062 EquivalentTo 'choroiditis'
http://purl.obolibrary.org/obo/MONDO_0001297
cardiac tamponade
'cardiac tamponade' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001285
http://purl.obolibrary.org/obo/MONDO_0015908
chromomycosis
http://purl.obolibrary.org/obo/GARD_0001319 EquivalentTo 'chromomycosis'
http://purl.obolibrary.org/obo/MONDO_0015900
rare hypoaldosteronism
http://purl.obolibrary.org/obo/GARD_0002874 EquivalentTo 'rare hypoaldosteronism'
http://purl.obolibrary.org/obo/MONDO_0015911
rare acquired hemolytic anemia
'rare acquired hemolytic anemia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34377
http://purl.obolibrary.org/obo/MONDO_0015926
pneumoconiosis
http://purl.obolibrary.org/obo/GARD_0008356 EquivalentTo 'pneumoconiosis'
http://purl.obolibrary.org/obo/MONDO_0015924
pulmonary arterial hypertension
http://purl.obolibrary.org/obo/GARD_0007501 EquivalentTo 'pulmonary arterial hypertension'
http://purl.obolibrary.org/obo/MONDO_0015938
systemic disease
'systemic disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C9229
http://purl.obolibrary.org/obo/MONDO_0001302
hypertensive heart disease
'hypertensive heart disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C4907
http://purl.obolibrary.org/obo/MONDO_0015943
eosinophilic granulomatosis with polyangiitis
'eosinophilic granulomatosis with polyangiitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_82275008
'eosinophilic granulomatosis with polyangiitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218
http://purl.obolibrary.org/obo/GARD_0005776 EquivalentTo 'eosinophilic granulomatosis with polyangiitis'
http://purl.obolibrary.org/obo/GARD_0006111 EquivalentTo 'eosinophilic granulomatosis with polyangiitis'
http://purl.obolibrary.org/obo/MONDO_0015942
frontometaphyseal dysplasia
'frontometaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007
http://purl.obolibrary.org/obo/GARD_0000826 EquivalentTo 'frontometaphyseal dysplasia'
http://purl.obolibrary.org/obo/MONDO_0025303
anaplasmosis
'anaplasmosis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C128425
'anaplasmosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_13906002
http://purl.obolibrary.org/obo/MONDO_0015974
severe combined immunodeficiency (disease)
http://purl.obolibrary.org/obo/GARD_0007628 EquivalentTo 'severe combined immunodeficiency (disease)'
http://purl.obolibrary.org/obo/MONDO_0001341
selective IgA deficiency disease
'selective IgA deficiency disease' SubClassOf 'dysgammaglobulinemia (disease)'
'selective IgA deficiency disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001929
'selective IgA deficiency disease' SubClassOf 'dysgammaglobulinemia (disease)'
http://purl.obolibrary.org/obo/MONDO_0001358
bronchial disease
'bronchial disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34439
'bronchial disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1002018
http://purl.obolibrary.org/obo/MONDO_0015995
melorheostosis with osteopoikilosis
http://purl.obolibrary.org/obo/GARD_0003690 EquivalentTo 'melorheostosis with osteopoikilosis'
http://purl.obolibrary.org/obo/GARD_0003800 EquivalentTo 'melorheostosis with osteopoikilosis'
http://purl.obolibrary.org/obo/MONDO_0015993
cone-rod dystrophy
http://purl.obolibrary.org/obo/GARD_0010790 EquivalentTo 'cone-rod dystrophy'
http://purl.obolibrary.org/obo/MONDO_0015998
isolated ectopia lentis
'isolated ectopia lentis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_74969002
http://purl.obolibrary.org/obo/MONDO_0015997
ectopia lentis-chorioretinal dystrophy-myopia syndrome
http://purl.obolibrary.org/obo/GARD_0003999 EquivalentTo 'ectopia lentis-chorioretinal dystrophy-myopia syndrome'
http://purl.obolibrary.org/obo/MONDO_0001134
essential hypertension
'essential hypertension' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1002032
http://purl.obolibrary.org/obo/MONDO_0025100
mastitis, bovine
'mastitis, bovine' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001765
http://purl.obolibrary.org/obo/MONDO_0015776
rhizomelic chondrodysplasia punctata
'rhizomelic chondrodysplasia punctata' SubClassOf 'rare genetic developmental defect during embryogenesis'
'rhizomelic chondrodysplasia punctata' SubClassOf 'rare genetic bone disease'
http://purl.obolibrary.org/obo/MONDO_0015772
trisomy 8q
'trisomy 8q' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C36428
http://purl.obolibrary.org/obo/GARD_0005362 EquivalentTo 'trisomy 8q'
http://purl.obolibrary.org/obo/MONDO_0015771
mosaic trisomy 7
http://purl.obolibrary.org/obo/MESH_C537822 EquivalentTo 'mosaic trisomy 7'
http://purl.obolibrary.org/obo/MONDO_0001149
microcephaly (disease)
http://purl.obolibrary.org/obo/GARD_0003603 EquivalentTo 'microcephaly (disease)'
http://purl.obolibrary.org/obo/MONDO_0001147
meningocele (disease)
http://purl.obolibrary.org/obo/GARD_0003471 EquivalentTo 'meningocele (disease)'
'meningocele (disease)' EquivalentTo http://www.orpha.net/ORDO/Orphanet_93968
http://purl.obolibrary.org/obo/MONDO_0001142
salivary gland disease
'salivary gland disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008581
http://purl.obolibrary.org/obo/MONDO_0015781
facial dysmorphism-shawl scrotum-joint laxity syndrome
http://purl.obolibrary.org/obo/GARD_0004778 EquivalentTo 'facial dysmorphism-shawl scrotum-joint laxity syndrome'
http://purl.obolibrary.org/obo/MONDO_0001158
obsessive-compulsive personality disorder
http://purl.obolibrary.org/obo/MESH_D003193 EquivalentTo 'obsessive-compulsive personality disorder'
http://purl.obolibrary.org/obo/MONDO_0001152
amnestic disorder
'amnestic disorder' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001454
http://purl.obolibrary.org/obo/MONDO_0015798
inflammatory myofibroblastic tumor
http://purl.obolibrary.org/obo/MESH_D006104 EquivalentTo 'inflammatory myofibroblastic tumor'
http://purl.obolibrary.org/obo/MONDO_0015799
Smith-McCort dysplasia
'Smith-McCort dysplasia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_715862006
http://purl.obolibrary.org/obo/MONDO_0015790
central diabetes insipidus
http://purl.obolibrary.org/obo/GARD_0006015 EquivalentTo 'central diabetes insipidus'
http://purl.obolibrary.org/obo/MONDO_0015794
antenatal multiminicore disease with arthrogryposis multiplex congenita
http://purl.obolibrary.org/obo/GARD_0009129 EquivalentTo 'antenatal multiminicore disease with arthrogryposis multiplex congenita'
http://purl.obolibrary.org/obo/MONDO_0015792
transient congenital hypothyroidism
'transient congenital hypothyroidism' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C113171
http://purl.obolibrary.org/obo/MONDO_0001179
pinguecula
'pinguecula' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001824
http://purl.obolibrary.org/obo/MONDO_0025135
tuberculosis, avian
'tuberculosis, avian' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001440
http://purl.obolibrary.org/obo/MONDO_0025136
tuberculosis, bovine
'tuberculosis, bovine' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001441
http://purl.obolibrary.org/obo/MONDO_0001196
psychologic dyspareunia
http://purl.obolibrary.org/obo/MESH_D004414 EquivalentTo 'psychologic dyspareunia'
http://purl.obolibrary.org/obo/MONDO_0025163
white heifer disease
'white heifer disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_82642007
http://purl.obolibrary.org/obo/NCIT_C35771
'arteriosclerotic cardiovascular disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35771
'atherosclerosis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35771
http://purl.obolibrary.org/obo/MONDO_0015809
localized pagetoid reticulosis
http://purl.obolibrary.org/obo/MESH_D056267 EquivalentTo 'localized pagetoid reticulosis'
http://purl.obolibrary.org/obo/MONDO_0015813
primary cutaneous marginal zone B-cell lymphoma
'primary cutaneous marginal zone B-cell lymphoma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C7230
http://purl.obolibrary.org/obo/MONDO_0015827
distal renal tubular acidosis (disease)
http://purl.obolibrary.org/obo/GARD_0004667 EquivalentTo 'distal renal tubular acidosis (disease)'
http://purl.obolibrary.org/obo/MONDO_0015824
oculomaxillofacial dysostosis
http://purl.obolibrary.org/obo/GARD_0004046 EquivalentTo 'oculomaxillofacial dysostosis'
http://purl.obolibrary.org/obo/MONDO_0001200
secondary hypertension
'secondary hypertension' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1002034
http://purl.obolibrary.org/obo/MONDO_0015848
septate vagina
'septate vagina' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0001153
http://purl.obolibrary.org/obo/MONDO_0001209
common wart
http://purl.obolibrary.org/obo/MESH_D014860 EquivalentTo 'common wart'
http://purl.obolibrary.org/obo/MONDO_0001217
pseudomembranous conjunctivitis
'pseudomembranous conjunctivitis' SubClassOf 'realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_1717
'pseudomembranous conjunctivitis' SubClassOf 'diphtheria'
http://purl.obolibrary.org/obo/MONDO_0001221
esophageal varices
http://purl.obolibrary.org/obo/GARD_0006384 EquivalentTo 'esophageal varices'
http://purl.obolibrary.org/obo/MONDO_0015863
polyembryoma
'polyembryoma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C66776
http://purl.obolibrary.org/obo/MONDO_0001236
appendiceal neoplasm
'appendiceal neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003880
http://purl.obolibrary.org/obo/MONDO_0015873
Paget disease of the nipple
http://purl.obolibrary.org/obo/GARD_0007303 EquivalentTo 'Paget disease of the nipple'
http://purl.obolibrary.org/obo/MONDO_0001243
disseminated intravascular coagulation
'disseminated intravascular coagulation' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0022202
http://purl.obolibrary.org/obo/MONDO_0001247
social phobia
'social phobia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001917
http://purl.obolibrary.org/obo/MONDO_0015885
rare insulin-resistance syndrome
'rare insulin-resistance syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C113169
http://purl.obolibrary.org/obo/MONDO_0015883
hidrotic ectodermal dysplasia, Halal type
http://purl.obolibrary.org/obo/GARD_0000280 EquivalentTo 'hidrotic ectodermal dysplasia, Halal type'
http://www.ebi.ac.uk/efo/EFO_1000224
'duodenal gastrin-producing neuroendocrine tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000224
http://www.ebi.ac.uk/efo/EFO_1000245
'epithelioid malignant peripheral nerve sheath tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000245
http://www.ebi.ac.uk/efo/EFO_1000241
'endometrial stromal nodule' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000241
http://purl.obolibrary.org/obo/GARD_0002206
http://purl.obolibrary.org/obo/GARD_0002206 EquivalentTo 'EXT3'
http://purl.obolibrary.org/obo/GARD_0002207
http://purl.obolibrary.org/obo/GARD_0002207 EquivalentTo 'bladder exstrophy-epispadias-cloacal exstrophy complex'
http://www.ebi.ac.uk/efo/EFO_1000258
'fibrous meningioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000258
http://www.ebi.ac.uk/efo/EFO_1000254
'breast fibroadenoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000254
http://purl.obolibrary.org/obo/MESH_D064068
http://purl.obolibrary.org/obo/MESH_D064068 EquivalentTo 'collagenous sprue'
http://purl.obolibrary.org/obo/NCIT_C131506
'childhood malignant melanoma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C131506
http://purl.obolibrary.org/obo/GARD_0002257
http://purl.obolibrary.org/obo/GARD_0002257 EquivalentTo 'familial temporal lobe epilepsy 1'
http://purl.obolibrary.org/obo/GARD_0002263
http://purl.obolibrary.org/obo/GARD_0002263 EquivalentTo 'ventricular tachycardia, familial'
http://purl.obolibrary.org/obo/GARD_0002277
http://purl.obolibrary.org/obo/GARD_0002277 EquivalentTo 'osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension'
http://purl.obolibrary.org/obo/SCTID_722690001
'benign chondrogenic neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_722690001
http://purl.obolibrary.org/obo/GARD_0002279
http://purl.obolibrary.org/obo/GARD_0002279 EquivalentTo 'atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome'
http://purl.obolibrary.org/obo/GARD_0002286
http://purl.obolibrary.org/obo/GARD_0002286 EquivalentTo 'femur-fibula-ulna complex'
http://purl.obolibrary.org/obo/GARD_0002285
http://purl.obolibrary.org/obo/GARD_0002285 EquivalentTo 'Gollop-Wolfgang complex'
http://purl.obolibrary.org/obo/GARD_0002294
http://purl.obolibrary.org/obo/GARD_0002294 EquivalentTo 'aminopterin/methotrexate embryofetopathy'
http://purl.obolibrary.org/obo/GARD_0002216
http://purl.obolibrary.org/obo/GARD_0002216 EquivalentTo 'eyebrow duplication-syndactyly syndrome'
http://purl.obolibrary.org/obo/GARD_0002221
http://purl.obolibrary.org/obo/GARD_0002221 EquivalentTo 'facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome'
http://purl.obolibrary.org/obo/SCTID_200824008
'contact dermatitis caused by poison oak' EquivalentTo http://purl.obolibrary.org/obo/SCTID_200824008
http://purl.obolibrary.org/obo/GARD_0002228
http://purl.obolibrary.org/obo/GARD_0002228 EquivalentTo 'Faciothoracogenital syndrome'
http://purl.obolibrary.org/obo/SCTID_699308002
'chromosome 15q24 deletion syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_699308002
http://purl.obolibrary.org/obo/GARD_0002238
http://purl.obolibrary.org/obo/GARD_0002238 EquivalentTo 'congenital factor VII deficiency'
http://www.ebi.ac.uk/efo/EFO_1000213
'benign cystic nephroma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000213
http://purl.obolibrary.org/obo/GARD_0002249
http://purl.obolibrary.org/obo/GARD_0002249 EquivalentTo 'familial thoracic aortic aneurysm and aortic dissection'
http://purl.obolibrary.org/obo/GARD_0002256
http://purl.obolibrary.org/obo/GARD_0002256 EquivalentTo 'polydactyly of an index finger'
http://www.ebi.ac.uk/efo/EFO_1000216
'diffuse meningeal melanocytosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000216
http://purl.obolibrary.org/obo/NCIT_C98609
'TORCH syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C98609
http://purl.obolibrary.org/obo/MESH_D015012
http://purl.obolibrary.org/obo/MESH_D015012 EquivalentTo 'Yersinia pseudotuberculosis infectious disease'
http://purl.obolibrary.org/obo/NCIT_C131422
'congenital adrenal insufficiency' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C131422
http://purl.obolibrary.org/obo/GARD_0002183
http://purl.obolibrary.org/obo/GARD_0002183 EquivalentTo 'acute posterior multifocal placoid pigment epitheliopathy'
http://purl.obolibrary.org/obo/GARD_0002195
http://purl.obolibrary.org/obo/GARD_0002195 EquivalentTo 'thickened earlobes-conductive deafness syndrome'
http://purl.obolibrary.org/obo/GARD_0002197
http://purl.obolibrary.org/obo/GARD_0002197 EquivalentTo 'esthesioneuroblastoma'
http://purl.obolibrary.org/obo/MESH_D015009
http://purl.obolibrary.org/obo/MESH_D015009 EquivalentTo 'Yersinia infectious disease'
http://purl.obolibrary.org/obo/SCTID_232039004
'central retinal vein occlusion with macular edema' EquivalentTo http://purl.obolibrary.org/obo/SCTID_232039004
http://purl.obolibrary.org/obo/NCIT_C35087
'tuberculosis, spinal' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35087
http://purl.obolibrary.org/obo/NCIT_C35080
'isolated tracheo-esophageal fistula' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35080
http://www.ebi.ac.uk/efo/EFO_1000180
'clear cell meningioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000180
http://purl.obolibrary.org/obo/SCTID_267592003
'primary motor cortex epilepsy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_267592003
http://www.orpha.net/ORDO/Orphanet_1339
'cranioacrofacial syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_1339
http://purl.obolibrary.org/obo/NCIT_C35009
'sclerema neonatorum' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35009
http://www.ebi.ac.uk/efo/EFO_1000341
'lymphomatoid papulosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000341
http://www.ebi.ac.uk/efo/EFO_1000342
'lymphoplasmacyte-rich meningioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000342
http://www.ebi.ac.uk/efo/EFO_1000357
'malignant ovarian Brenner tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000357
http://www.ebi.ac.uk/efo/EFO_1000354
'larynx cancer' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000354
http://purl.obolibrary.org/obo/SCTID_82642007
'white heifer disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_82642007
http://www.ebi.ac.uk/efo/EFO_1000358
'ovarian seromucinous carcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000358
http://www.ebi.ac.uk/efo/EFO_1000359
'malignant pancreatic neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000359
http://www.ebi.ac.uk/efo/EFO_1000370
'meningeal melanocytoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000370
http://www.ebi.ac.uk/efo/EFO_1000376
'microcystic meningioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000376
http://www.ebi.ac.uk/efo/EFO_1000372
'meningothelial meningioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000372
http://www.ebi.ac.uk/efo/EFO_1000381
'mixed epithelial stromal tumor of the kidney' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000381
http://www.ebi.ac.uk/efo/EFO_1000384
'pleomorphic adenoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000384
http://www.ebi.ac.uk/efo/EFO_1000398
'non-functional pancreatic neuroendocrine tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000398
http://purl.obolibrary.org/obo/SCTID_77506005
'Chagas disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_77506005
http://purl.obolibrary.org/obo/GARD_0002139
http://purl.obolibrary.org/obo/GARD_0002139 EquivalentTo 'generalized dominant dystrophic epidermolysis bullosa'
http://purl.obolibrary.org/obo/NCIT_C131622
'acquired prothrombin deficiency' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C131622
http://purl.obolibrary.org/obo/GARD_0002147
http://purl.obolibrary.org/obo/GARD_0002147 EquivalentTo 'generalized epidermolysis bullosa simplex, non-Dowling-Meara type'
http://purl.obolibrary.org/obo/GARD_0002155
http://purl.obolibrary.org/obo/GARD_0002155 EquivalentTo 'pretibial dystrophic epidermolysis bullosa'
http://purl.obolibrary.org/obo/GARD_0002150
http://purl.obolibrary.org/obo/GARD_0002150 EquivalentTo 'dystrophic epidermolysis bullosa'
http://purl.obolibrary.org/obo/GARD_0002151
http://purl.obolibrary.org/obo/GARD_0002151 EquivalentTo 'junctional epidermolysis bullosa, non-Herlitz type'
http://purl.obolibrary.org/obo/GARD_0002166
http://purl.obolibrary.org/obo/GARD_0002166 EquivalentTo 'celiac disease-epilepsy-cerebral calcification syndrome'
http://purl.obolibrary.org/obo/GARD_0002168
http://purl.obolibrary.org/obo/GARD_0002168 EquivalentTo 'epilepsy-telangiectasia syndrome'
http://purl.obolibrary.org/obo/GARD_0002162
http://purl.obolibrary.org/obo/GARD_0002162 EquivalentTo 'juvenile absence epilepsy'
http://purl.obolibrary.org/obo/GARD_0002102
http://purl.obolibrary.org/obo/GARD_0002102 EquivalentTo 'X-linked Emery-Dreifuss muscular dystrophy'
http://www.ebi.ac.uk/efo/EFO_1000306
'intraductal breast papilloma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000306
http://www.ebi.ac.uk/efo/EFO_1000312
'kidney angiomyolipoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000312
http://purl.obolibrary.org/obo/GARD_0002104
http://purl.obolibrary.org/obo/GARD_0002104 EquivalentTo 'congenital lobar emphysema'
http://www.ebi.ac.uk/efo/EFO_0000326
'central nervous system cancer' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0000326
http://www.ebi.ac.uk/efo/EFO_1000315
'kidney oncocytoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000315
http://purl.obolibrary.org/obo/GARD_0002125
http://purl.obolibrary.org/obo/GARD_0002125 EquivalentTo 'glycogen storage disease due to muscle beta-enolase deficiency'
http://purl.obolibrary.org/obo/NCIT_C35151
'chronic rhinosinusitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35151
http://purl.obolibrary.org/obo/NCIT_C35152
'acute cholecystitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35152
http://purl.obolibrary.org/obo/NCIT_C50795
'vaginal discharge' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C50795
http://purl.obolibrary.org/obo/NCIT_C35171
'Plummer disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35171
http://www.orpha.net/ORDO/Orphanet_1219
'aurocephalosyndactyly' EquivalentTo http://www.orpha.net/ORDO/Orphanet_1219
http://purl.obolibrary.org/obo/GARD_0002060
http://purl.obolibrary.org/obo/GARD_0002060 EquivalentTo 'ectopia lentis 2, isolated, autosomal recessive'
http://purl.obolibrary.org/obo/SCTID_206539008
'sclerema neonatorum' EquivalentTo http://purl.obolibrary.org/obo/SCTID_206539008
http://purl.obolibrary.org/obo/GARD_0002088
http://purl.obolibrary.org/obo/GARD_0002088 EquivalentTo 'Ehlers-Danlos syndrome, classic type'
http://purl.obolibrary.org/obo/GARD_0002089
http://purl.obolibrary.org/obo/GARD_0002089 EquivalentTo 'Ehlers-Danlos syndrome, dermatosparaxis type'
http://purl.obolibrary.org/obo/GARD_0002081
http://purl.obolibrary.org/obo/GARD_0002081 EquivalentTo 'type III Ehlers-Danlos syndrome'
http://purl.obolibrary.org/obo/GARD_0002082
http://purl.obolibrary.org/obo/GARD_0002082 EquivalentTo 'Ehlers-Danlos syndrome, vascular type'
http://purl.obolibrary.org/obo/GARD_0002083
http://purl.obolibrary.org/obo/GARD_0002083 EquivalentTo 'Ehlers-Danlos syndrome, kyphoscoliotic type'
http://purl.obolibrary.org/obo/SCTID_81678004
'ring chromosome 4' EquivalentTo http://purl.obolibrary.org/obo/SCTID_81678004
http://purl.obolibrary.org/obo/SCTID_126736007
'blood vessel neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_126736007
http://purl.obolibrary.org/obo/GARD_0002096
http://purl.obolibrary.org/obo/GARD_0002096 EquivalentTo 'acrocephalopolydactyly'
http://purl.obolibrary.org/obo/GARD_0002098
http://purl.obolibrary.org/obo/GARD_0002098 EquivalentTo 'microcephaly-cardiac defect-lung malsegmentation syndrome'
http://purl.obolibrary.org/obo/SCTID_428174001
'Brucella canis brucellosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_428174001
http://purl.obolibrary.org/obo/NCIT_C35114
'varicose disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35114
http://purl.obolibrary.org/obo/NCIT_C50764
'lymphatic system disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C50764
http://purl.obolibrary.org/obo/NCIT_C35129
'vitamin b deficiency' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35129
http://purl.obolibrary.org/obo/SCTID_88154004
'ring chromosome 18' EquivalentTo http://purl.obolibrary.org/obo/SCTID_88154004
http://purl.obolibrary.org/obo/SCTID_409498004
'anthrax infection' EquivalentTo http://purl.obolibrary.org/obo/SCTID_409498004
http://purl.obolibrary.org/obo/MESH_D005926
http://purl.obolibrary.org/obo/MESH_D005926 EquivalentTo 'glossodynia'
http://www.ebi.ac.uk/efo/EFO_1000027
'ependymal tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000027
http://purl.obolibrary.org/obo/SCTID_702772003
'multiple chemical sensitivity' EquivalentTo http://purl.obolibrary.org/obo/SCTID_702772003
http://www.ebi.ac.uk/efo/EFO_0000630
'oligoastrocytoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0000630
http://www.ebi.ac.uk/efo/EFO_1000055
'tongue squamous cell carcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000055
http://www.ebi.ac.uk/efo/EFO_0000622
'neurofibroma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0000622
http://purl.obolibrary.org/obo/GARD_0002016
http://purl.obolibrary.org/obo/GARD_0002016 EquivalentTo 'dysostosis, Stanescu type'
http://www.ebi.ac.uk/efo/EFO_0000658
'plexiform neurofibroma (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0000658
http://purl.obolibrary.org/obo/GARD_0002028
http://purl.obolibrary.org/obo/GARD_0002028 EquivalentTo 'torsion dystonia 2'
http://purl.obolibrary.org/obo/GARD_0002033
http://purl.obolibrary.org/obo/GARD_0002033 EquivalentTo 'Meier-Gorlin syndrome'
http://purl.obolibrary.org/obo/GARD_0002034
http://purl.obolibrary.org/obo/GARD_0002034 EquivalentTo 'thickened earlobes with conductive deafness from incus-stapes abnormalities'
http://purl.obolibrary.org/obo/GARD_0002035
http://purl.obolibrary.org/obo/GARD_0002035 EquivalentTo 'Ebola hemorrhagic fever'
http://purl.obolibrary.org/obo/GARD_0002031
http://purl.obolibrary.org/obo/GARD_0002031 EquivalentTo 'qualitative or quantitative defects of dysferlin'
http://purl.obolibrary.org/obo/GARD_0002048
http://purl.obolibrary.org/obo/GARD_0002048 EquivalentTo 'ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant'
http://purl.obolibrary.org/obo/GARD_0002056
http://purl.obolibrary.org/obo/GARD_0002056 EquivalentTo 'Clouston syndrome'
http://purl.obolibrary.org/obo/GARD_0002052
http://purl.obolibrary.org/obo/GARD_0002052 EquivalentTo 'ectodermal dysplasia with mental retardation and syndactyly'
http://www.ebi.ac.uk/efo/EFO_0000693
'schwannoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0000693
http://purl.obolibrary.org/obo/UBERON_0002247
http://purl.obolibrary.org/obo/UBERON_0002247 SubClassOf http://purl.obolibrary.org/obo/CARO_0000003
http://purl.obolibrary.org/obo/GARD_0002000
http://purl.obolibrary.org/obo/GARD_0002000 EquivalentTo 'congenital dyserythropoietic anemia type i'
http://purl.obolibrary.org/obo/GARD_0002001
http://purl.obolibrary.org/obo/GARD_0002001 EquivalentTo 'congenital dyserythropoietic anemia type II'
http://purl.obolibrary.org/obo/GARD_0002002
http://purl.obolibrary.org/obo/GARD_0002002 EquivalentTo 'congenital dyserythropoietic anemia type III'
http://purl.obolibrary.org/obo/GARD_0002003
http://purl.obolibrary.org/obo/GARD_0002003 EquivalentTo 'qualitative or quantitative defects of dysferlin'
http://purl.obolibrary.org/obo/GARD_0002005
http://purl.obolibrary.org/obo/GARD_0002005 EquivalentTo 'pineal region germinoma'
http://purl.obolibrary.org/obo/MESH_D015266
http://purl.obolibrary.org/obo/MESH_D015266 EquivalentTo 'cutaneous neuroendocrine carcinoma'
http://purl.obolibrary.org/obo/SCTID_405256006
'parturient paresis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_405256006
http://purl.obolibrary.org/obo/MESH_D015270
http://purl.obolibrary.org/obo/MESH_D015270 EquivalentTo 'mycobacterium avium complex disease'
http://purl.obolibrary.org/obo/MESH_D015275
http://purl.obolibrary.org/obo/MESH_D015275 EquivalentTo 'tumor lysis syndrome'
http://purl.obolibrary.org/obo/NCIT_C98864
'systemic primary carnitine deficiency disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C98864
http://purl.obolibrary.org/obo/SCTID_314998002
'metastasis from malignant tumor of colon' EquivalentTo http://purl.obolibrary.org/obo/SCTID_314998002
http://purl.obolibrary.org/obo/SCTID_35984006
'tuberculosis, spinal' EquivalentTo http://purl.obolibrary.org/obo/SCTID_35984006
http://www.orpha.net/ORDO/Orphanet_1569
'de Sanctis-Cacchione syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_1569
http://www.orpha.net/ORDO/Orphanet_1575
'infantile striato thalamic degeneration' EquivalentTo http://www.orpha.net/ORDO/Orphanet_1575
http://purl.obolibrary.org/obo/NCIT_C131296
'partial lipodystrophy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C131296
http://purl.obolibrary.org/obo/SCTID_116021002
'inherited organic acidemia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_116021002
http://purl.obolibrary.org/obo/NCIT_C35225
'Behcet syndrome arthropathy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35225
http://purl.obolibrary.org/obo/GO_0010669
http://www.orpha.net/ORDO/Orphanet_1535
'glass-chapman-hockley syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_1535
http://purl.obolibrary.org/obo/NCIT_C35254
'skin vascular disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35254
http://www.ebi.ac.uk/efo/EFO_1000107
'benign neoplasm of brain' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000107
http://purl.obolibrary.org/obo/NCIT_C6827
'chromosome inversion' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C6827
http://www.ebi.ac.uk/efo/EFO_1000115
'benign ovarian mucinous tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000115
http://www.ebi.ac.uk/efo/EFO_1000112
'ovarian Brenner tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000112
http://www.ebi.ac.uk/efo/EFO_1000111
'kidney benign neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000111
http://www.ebi.ac.uk/efo/EFO_1000118
'benign neoplasm of renal pelvis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000118
http://www.ebi.ac.uk/efo/EFO_1000116
'ovarian benign neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000116
http://www.ebi.ac.uk/efo/EFO_1000132
'bone epithelioid hemangioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000132
http://purl.obolibrary.org/obo/SCTID_720518006
'Athabaskan brainstem dysgenesis syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_720518006
http://www.ebi.ac.uk/efo/EFO_1000140
'borderline epithelial tumor of ovary' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000140
http://purl.obolibrary.org/obo/SCTID_253151003
'nodular neuronal heterotopia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_253151003
http://www.ebi.ac.uk/efo/EFO_1000176
'chordoid meningioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000176
http://www.ebi.ac.uk/efo/EFO_1000177
'choroid plexus papilloma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000177
http://www.ebi.ac.uk/efo/EFO_0000546
'injury' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0000546
http://purl.obolibrary.org/obo/NCIT_C98892
'congenital pulmonary airway malformation' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C98892
http://purl.obolibrary.org/obo/NCIT_C98890
'isolated cerebellar hypoplasia/agenesis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C98890
http://purl.obolibrary.org/obo/SCTID_398067003
'Weil's disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_398067003
http://purl.obolibrary.org/obo/ICD10_Q23.2
http://purl.obolibrary.org/obo/ICD10_Q23.2 EquivalentTo 'congenital mitral stenosis (disease)'
http://purl.obolibrary.org/obo/NCIT_C98961
'volvulus of midgut' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C98961
http://purl.obolibrary.org/obo/SCTID_73998008
'prolapse of female genital organ' EquivalentTo http://purl.obolibrary.org/obo/SCTID_73998008
http://purl.obolibrary.org/obo/NCIT_C98944
'orotic aciduria' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C98944
http://purl.obolibrary.org/obo/MESH_D015161
http://purl.obolibrary.org/obo/MESH_D015161 EquivalentTo 'multi-infarct dementia'
http://purl.obolibrary.org/obo/NCIT_C74983
'chromosome 1p36 deletion syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C74983
http://purl.obolibrary.org/obo/NCIT_C121984
'ring chromosome 5' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C121984
http://purl.obolibrary.org/obo/NCIT_C121985
'ring chromosome 6' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C121985
http://purl.obolibrary.org/obo/NCIT_C121982
'ring chromosome 3' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C121982
http://purl.obolibrary.org/obo/NCIT_C121983
'ring chromosome 4' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C121983
http://purl.obolibrary.org/obo/NCIT_C121986
'ring chromosome 7' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C121986
http://purl.obolibrary.org/obo/NCIT_C121981
'ring chromosome 2' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C121981
http://purl.obolibrary.org/obo/NCIT_C98992
'mitral atresia (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C98992
http://purl.obolibrary.org/obo/UBERON_1000011
http://purl.obolibrary.org/obo/NCIT_C84348
'neurocutaneous syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84348
http://purl.obolibrary.org/obo/NCIT_C98970
'congenital laryngeal web' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C98970
http://www.ebi.ac.uk/efo/EFO_1000069
'adamantinous craniopharyngioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000069
http://purl.obolibrary.org/obo/SCTID_73097000
'alcohol amnestic disorder' EquivalentTo http://purl.obolibrary.org/obo/SCTID_73097000
http://purl.obolibrary.org/obo/NCIT_C35317
'arterial disorder' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35317
http://www.ebi.ac.uk/efo/EFO_1000086
'angiomatous meningioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000086
http://purl.obolibrary.org/obo/NCIT_C98928
'aminopterin/methotrexate embryofetopathy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C98928
http://purl.obolibrary.org/obo/NCIT_C35371
'lytic metastatic bone lesion' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35371
http://purl.obolibrary.org/obo/GARD_0002657
http://purl.obolibrary.org/obo/GARD_0002657 EquivalentTo 'hepatoblastoma'
http://purl.obolibrary.org/obo/GARD_0002659
http://purl.obolibrary.org/obo/GARD_0002659 EquivalentTo 'hereditary methemoglobinemia'
http://purl.obolibrary.org/obo/GARD_0002669
http://purl.obolibrary.org/obo/GARD_0002669 EquivalentTo 'congenital herpes virus infection'
http://purl.obolibrary.org/obo/GARD_0002671
http://purl.obolibrary.org/obo/GARD_0002671 EquivalentTo 'craniosynostosis, Herrmann-Opitz type'
http://purl.obolibrary.org/obo/GARD_0002672
http://purl.obolibrary.org/obo/GARD_0002672 EquivalentTo 'toluene embryopathy'
http://purl.obolibrary.org/obo/GARD_0002670
http://purl.obolibrary.org/obo/GARD_0002670 EquivalentTo 'congenital herpes virus infection'
http://purl.obolibrary.org/obo/SCTID_31996006
'vasculitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_31996006
http://purl.obolibrary.org/obo/GARD_0012011
http://purl.obolibrary.org/obo/GARD_0012011 EquivalentTo 'Charcot-Marie-tooth disease dominant intermediate E'
http://purl.obolibrary.org/obo/GARD_0002695
http://purl.obolibrary.org/obo/GARD_0002695 EquivalentTo 'Hirschsprung disease-ganglioneuroblastoma syndrome'
http://purl.obolibrary.org/obo/GARD_0002690
http://purl.obolibrary.org/obo/GARD_0002690 EquivalentTo 'hip dysplasia, Beukes type'
http://purl.obolibrary.org/obo/SCTID_56576003
'panic disorder without agoraphobia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_56576003
http://purl.obolibrary.org/obo/GARD_0002619
http://purl.obolibrary.org/obo/GARD_0002619 EquivalentTo 'heart neoplasm'
http://purl.obolibrary.org/obo/GARD_0002614
http://purl.obolibrary.org/obo/GARD_0002614 EquivalentTo 'heart-hand syndrome type 3'
http://purl.obolibrary.org/obo/GARD_0002610
http://purl.obolibrary.org/obo/GARD_0002610 EquivalentTo 'progressive familial heart block type IB'
http://purl.obolibrary.org/obo/GARD_0002612
http://purl.obolibrary.org/obo/GARD_0002612 EquivalentTo 'heart defect-tongue hamartoma-polysyndactyly syndrome'
http://purl.obolibrary.org/obo/GARD_0002627
http://purl.obolibrary.org/obo/GARD_0002627 EquivalentTo 'hemangiopericytoma, malignant'
http://purl.obolibrary.org/obo/GARD_0002621
http://purl.obolibrary.org/obo/GARD_0002621 EquivalentTo 'trismus-pseudocamptodactyly syndrome'
http://purl.obolibrary.org/obo/GARD_0002622
http://purl.obolibrary.org/obo/GARD_0002622 EquivalentTo 'fibular aplasia, tibial campomelia, and oligosyndactyly syndrome'
http://purl.obolibrary.org/obo/GARD_0002630
http://purl.obolibrary.org/obo/GARD_0002630 EquivalentTo 'isolated hemihyperplasia'
http://purl.obolibrary.org/obo/SCTID_9899009
'ovarian ectopic pregnancy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_9899009
http://purl.obolibrary.org/obo/GARD_0002638
http://purl.obolibrary.org/obo/GARD_0002638 EquivalentTo 'migraine, familial hemiplegic, 1'
http://purl.obolibrary.org/obo/GARD_0002649
http://purl.obolibrary.org/obo/GARD_0002649 EquivalentTo 'Sanfilippo syndrome type A'
http://purl.obolibrary.org/obo/GARD_0002642
http://purl.obolibrary.org/obo/GARD_0002642 EquivalentTo 'lethal hemolytic anemia-genital anomalies syndrome'
http://purl.obolibrary.org/obo/GARD_0002650
http://purl.obolibrary.org/obo/GARD_0002650 EquivalentTo 'heparin-induced thrombocytopenia (disease)'
http://purl.obolibrary.org/obo/GARD_0012059
http://purl.obolibrary.org/obo/GARD_0012059 EquivalentTo 'Amish infantile epilepsy syndrome'
http://purl.obolibrary.org/obo/GARD_0012076
http://purl.obolibrary.org/obo/GARD_0012076 EquivalentTo '7q11.23 microduplication syndrome'
http://purl.obolibrary.org/obo/SCTID_69488000
'monilethrix' EquivalentTo http://purl.obolibrary.org/obo/SCTID_69488000
http://purl.obolibrary.org/obo/GARD_0012085
http://purl.obolibrary.org/obo/GARD_0012085 EquivalentTo 'isolated anophthalmia-microphthalmia syndrome'
http://purl.obolibrary.org/obo/NCIT_C116366
'hyperacusis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C116366
http://purl.obolibrary.org/obo/NCIT_C116367
'presbycusis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C116367
http://purl.obolibrary.org/obo/NCIT_C116362
'Alice in wonderland syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C116362
http://purl.obolibrary.org/obo/GARD_0012097
http://purl.obolibrary.org/obo/GARD_0012097 EquivalentTo 'lysosomal acid lipase deficiency'
http://purl.obolibrary.org/obo/GARD_0012099
http://purl.obolibrary.org/obo/GARD_0012099 EquivalentTo 'cholesteryl ester storage disease'
http://purl.obolibrary.org/obo/MESH_D005265
http://purl.obolibrary.org/obo/MESH_D005265 EquivalentTo 'femoral neck fracture'
http://purl.obolibrary.org/obo/GARD_0012034
http://purl.obolibrary.org/obo/GARD_0012034 EquivalentTo 'autoimmune retinopathy'
http://purl.obolibrary.org/obo/GARD_0012033
http://purl.obolibrary.org/obo/GARD_0012033 EquivalentTo 'nemaline myopathy'
http://purl.obolibrary.org/obo/GARD_0012027
http://purl.obolibrary.org/obo/GARD_0012027 EquivalentTo 'thyroid gland papillary carcinoma'
http://purl.obolibrary.org/obo/SCTID_254812004
'pigmented spindle cell nevus' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254812004
http://purl.obolibrary.org/obo/NCIT_C116319
'mosaic trisomy 14' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C116319
http://purl.obolibrary.org/obo/PR_000007547
http://purl.obolibrary.org/obo/MESH_D020863
http://purl.obolibrary.org/obo/MESH_D020863 EquivalentTo 'central nervous system cyst (disease)'
http://purl.obolibrary.org/obo/MESH_D020805
http://purl.obolibrary.org/obo/MESH_D020805 EquivalentTo 'viral infection of central nervous system'
http://purl.obolibrary.org/obo/SCTID_254861002
'maligant granulosa cell tumor of ovary' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254861002
http://purl.obolibrary.org/obo/SCTID_8549006
'desquamative interstitial pneumonia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_8549006
http://purl.obolibrary.org/obo/GARD_0002605
http://purl.obolibrary.org/obo/GARD_0002605 EquivalentTo 'short stature-craniofacial anomalies-genital hypoplasia syndrome'
http://purl.obolibrary.org/obo/GARD_0002600
http://purl.obolibrary.org/obo/GARD_0002600 EquivalentTo 'early-onset cerebellar ataxia with retained tendon reflexes'
http://purl.obolibrary.org/obo/GARD_0002601
http://purl.obolibrary.org/obo/GARD_0002601 EquivalentTo 'Harrod syndrome'
http://purl.obolibrary.org/obo/GARD_0002537
http://purl.obolibrary.org/obo/GARD_0002537 EquivalentTo 'GOMBO syndrome'
http://purl.obolibrary.org/obo/GARD_0002542
http://purl.obolibrary.org/obo/GARD_0002542 EquivalentTo 'Perrault syndrome'
http://purl.obolibrary.org/obo/GARD_0002568
http://purl.obolibrary.org/obo/GARD_0002568 EquivalentTo 'deafness-small bowel diverticulosis-neuropathy syndrome'
http://www.ebi.ac.uk/efo/EFO_0000734
'inborn vitamin B12 deficiency (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0000734
http://purl.obolibrary.org/obo/GARD_0002503
http://purl.obolibrary.org/obo/GARD_0002503 EquivalentTo 'glycogen storage disease II'
http://purl.obolibrary.org/obo/GARD_0002505
http://purl.obolibrary.org/obo/GARD_0002505 EquivalentTo 'disorder of glutamate decarboxylase'
http://purl.obolibrary.org/obo/GARD_0002502
http://purl.obolibrary.org/obo/GARD_0002502 EquivalentTo 'hemolytic anemia due to glucophosphate isomerase deficiency'
http://purl.obolibrary.org/obo/GARD_0002515
http://purl.obolibrary.org/obo/GARD_0002515 EquivalentTo 'glycogen storage disease due to glucose-6-phosphatase deficiency type IB'
http://purl.obolibrary.org/obo/GARD_0002513
http://purl.obolibrary.org/obo/GARD_0002513 EquivalentTo 'glycogen storage disease due to hepatic glycogen synthase deficiency'
http://purl.obolibrary.org/obo/GARD_0002520
http://purl.obolibrary.org/obo/GARD_0002520 EquivalentTo 'glycogen storage disease due to glycogen branching enzyme deficiency'
http://purl.obolibrary.org/obo/SCTID_721822004
'cystic echinococcosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_721822004
http://purl.obolibrary.org/obo/GARD_0002521
http://purl.obolibrary.org/obo/GARD_0002521 EquivalentTo 'Sandhoff disease'
http://purl.obolibrary.org/obo/GARD_0002522
http://purl.obolibrary.org/obo/GARD_0002522 EquivalentTo 'GM2 gangliosidosis'
http://purl.obolibrary.org/obo/GARD_0002586
http://purl.obolibrary.org/obo/GARD_0002586 EquivalentTo 'hall-Riggs syndrome'
http://purl.obolibrary.org/obo/GARD_0002582
http://purl.obolibrary.org/obo/GARD_0002582 EquivalentTo 'hair defect-photosensitivity-intellectual disability syndrome'
http://purl.obolibrary.org/obo/SCTID_717047007
'bile acid CoA ligase deficiency and defective amidation' EquivalentTo http://purl.obolibrary.org/obo/SCTID_717047007
http://purl.obolibrary.org/obo/SCTID_95637005
'Munchausen by proxy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_95637005
http://purl.obolibrary.org/obo/GARD_0002594
http://purl.obolibrary.org/obo/GARD_0002594 EquivalentTo 'hand-foot-genital syndrome'
http://purl.obolibrary.org/obo/GARD_0002597
http://purl.obolibrary.org/obo/GARD_0002597 EquivalentTo 'extensor tendons of finger anomalies'
http://purl.obolibrary.org/obo/GARD_0002593
http://purl.obolibrary.org/obo/GARD_0002593 EquivalentTo 'Emery-Nelson syndrome'
http://purl.obolibrary.org/obo/MESH_D019773
http://purl.obolibrary.org/obo/MESH_D019773 EquivalentTo 'preretinal fibrosis'
http://purl.obolibrary.org/obo/GARD_0002598
http://purl.obolibrary.org/obo/GARD_0002598 EquivalentTo 'Parana hard-skin syndrome'
http://purl.obolibrary.org/obo/GARD_0002599
http://purl.obolibrary.org/obo/GARD_0002599 EquivalentTo 'Walker-Warburg syndrome'
http://purl.obolibrary.org/obo/MESH_D020757
http://purl.obolibrary.org/obo/MESH_D020757 EquivalentTo 'amaurosis fugax'
http://purl.obolibrary.org/obo/MESH_D020752
http://purl.obolibrary.org/obo/MESH_D020752 EquivalentTo 'neurocutaneous syndrome'
http://purl.obolibrary.org/obo/SCTID_4887000
'tyrosinemia type II' EquivalentTo http://purl.obolibrary.org/obo/SCTID_4887000
http://purl.obolibrary.org/obo/SCTID_93527005
'splenic Hodgkin lymphoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_93527005
http://purl.obolibrary.org/obo/MESH_D054098
http://purl.obolibrary.org/obo/MESH_D054098 EquivalentTo 'neonatal thrombocytopenia'
http://purl.obolibrary.org/obo/GARD_0002418
http://purl.obolibrary.org/obo/GARD_0002418 EquivalentTo 'furuncular myiasis'
http://www.orpha.net/ORDO/Orphanet_371324
'nephrolithiasis, uric acid, susceptibility to' EquivalentTo http://www.orpha.net/ORDO/Orphanet_371324
http://purl.obolibrary.org/obo/GARD_0002427
http://purl.obolibrary.org/obo/GARD_0002427 EquivalentTo 'growth delay-hydrocephaly-lung hypoplasia syndrome'
http://purl.obolibrary.org/obo/GARD_0002428
http://purl.obolibrary.org/obo/GARD_0002428 EquivalentTo 'cystathioninuria (disease)'
http://purl.obolibrary.org/obo/GARD_0002429
http://purl.obolibrary.org/obo/GARD_0002429 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2C'
http://purl.obolibrary.org/obo/GARD_0002424
http://purl.obolibrary.org/obo/GARD_0002424 EquivalentTo 'galactosemia'
http://purl.obolibrary.org/obo/GARD_0002432
http://purl.obolibrary.org/obo/GARD_0002432 EquivalentTo 'X-linked diffuse leiomyomatosis-Alport syndrome'
http://purl.obolibrary.org/obo/GARD_0002436
http://purl.obolibrary.org/obo/GARD_0002436 EquivalentTo 'gastric mucosal hypertrophy'
http://purl.obolibrary.org/obo/GARD_0002441
http://purl.obolibrary.org/obo/GARD_0002441 EquivalentTo 'Gaucher disease type I'
http://purl.obolibrary.org/obo/GARD_0002442
http://purl.obolibrary.org/obo/GARD_0002442 EquivalentTo 'Gaucher disease type II'
http://purl.obolibrary.org/obo/GARD_0002443
http://purl.obolibrary.org/obo/GARD_0002443 EquivalentTo 'Gaucher disease type III'
http://purl.obolibrary.org/obo/SCTID_56267009
'multi-infarct dementia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_56267009
http://purl.obolibrary.org/obo/GARD_0002448
http://purl.obolibrary.org/obo/GARD_0002448 EquivalentTo 'pseudomyxoma peritonei'
http://purl.obolibrary.org/obo/GARD_0002449
http://purl.obolibrary.org/obo/GARD_0002449 EquivalentTo 'geleophysic dysplasia'
http://purl.obolibrary.org/obo/GARD_0002445
http://purl.obolibrary.org/obo/GARD_0002445 EquivalentTo 'Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome'
http://purl.obolibrary.org/obo/GARD_0002452
http://purl.obolibrary.org/obo/GARD_0002452 EquivalentTo 'glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome'
http://purl.obolibrary.org/obo/GARD_0002454
http://purl.obolibrary.org/obo/GARD_0002454 EquivalentTo 'holoprosencephaly-craniosynostosis syndrome'
http://purl.obolibrary.org/obo/GARD_0002408
http://purl.obolibrary.org/obo/GARD_0002408 EquivalentTo 'upper limb mesomelic dysplasia'
http://purl.obolibrary.org/obo/SCTID_91934008
'nut allergic reaction' EquivalentTo http://purl.obolibrary.org/obo/SCTID_91934008
http://purl.obolibrary.org/obo/GARD_0002400
http://purl.obolibrary.org/obo/GARD_0002400 EquivalentTo 'fructose-1,6-bisphosphatase deficiency'
http://purl.obolibrary.org/obo/GARD_0002459
http://purl.obolibrary.org/obo/GARD_0002459 EquivalentTo 'Turner syndrome'
http://purl.obolibrary.org/obo/GARD_0002456
http://purl.obolibrary.org/obo/GARD_0002456 EquivalentTo 'mycobacterium tuberculosis, susceptibility to'
http://purl.obolibrary.org/obo/GARD_0002474
http://purl.obolibrary.org/obo/GARD_0002474 EquivalentTo 'GINGF2'
http://purl.obolibrary.org/obo/GARD_0002475
http://purl.obolibrary.org/obo/GARD_0002475 EquivalentTo 'GINGF4'
http://purl.obolibrary.org/obo/GARD_0002470
http://purl.obolibrary.org/obo/GARD_0002470 EquivalentTo 'Bernard-Soulier syndrome'
http://purl.obolibrary.org/obo/GARD_0002478
http://purl.obolibrary.org/obo/GARD_0002478 EquivalentTo 'Glanzmann's thrombasthenia'
http://purl.obolibrary.org/obo/GARD_0002496
http://purl.obolibrary.org/obo/GARD_0002496 EquivalentTo 'glucagonoma'
http://purl.obolibrary.org/obo/GARD_0002491
http://purl.obolibrary.org/obo/GARD_0002491 EquivalentTo 'glioblastoma (disease)'
http://purl.obolibrary.org/obo/GARD_0002492
http://purl.obolibrary.org/obo/GARD_0002492 EquivalentTo 'hypotrichosis-lymphedema-telangiectasia-renal defect syndrome'
http://purl.obolibrary.org/obo/SCTID_205649008
'chromosome 8, trisomy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_205649008
http://purl.obolibrary.org/obo/NCIT_C131647
'glycogen storage disease due to phosphoglycerate mutase deficiency' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C131647
http://www.orpha.net/ORDO/Orphanet_1137
'Kashani-Strom-Utley syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_1137
http://purl.obolibrary.org/obo/SCTID_54336006
'ichthyosis linearis circumflexa' EquivalentTo http://purl.obolibrary.org/obo/SCTID_54336006
http://purl.obolibrary.org/obo/SCTID_188154003
'female breast upper-outer quadrant cancer' EquivalentTo http://purl.obolibrary.org/obo/SCTID_188154003
http://purl.obolibrary.org/obo/GARD_0002301
http://purl.obolibrary.org/obo/GARD_0002301 EquivalentTo 'hydrops fetalis (disease)'
http://purl.obolibrary.org/obo/GARD_0002310
http://purl.obolibrary.org/obo/GARD_0002310 EquivalentTo 'fetal parvovirus syndrome'
http://purl.obolibrary.org/obo/GARD_0002313
http://purl.obolibrary.org/obo/GARD_0002313 EquivalentTo 'thalidomide embryopathy'
http://purl.obolibrary.org/obo/GARD_0002322
http://purl.obolibrary.org/obo/GARD_0002322 EquivalentTo 'Birt-Hogg-Dube syndrome'
http://purl.obolibrary.org/obo/GARD_0002327
http://purl.obolibrary.org/obo/GARD_0002327 EquivalentTo 'fibrosarcoma (disease)'
http://purl.obolibrary.org/obo/GARD_0002331
http://purl.obolibrary.org/obo/GARD_0002331 EquivalentTo 'fibular aplasia-ectrodactyly syndrome'
http://purl.obolibrary.org/obo/HP_0004905
http://purl.obolibrary.org/obo/GARD_0002383
http://purl.obolibrary.org/obo/GARD_0002383 EquivalentTo 'retinal telangiectasia and hypogammaglobulinemia'
http://purl.obolibrary.org/obo/GARD_0002384
http://purl.obolibrary.org/obo/GARD_0002384 EquivalentTo '14q22q23 microdeletion syndrome'
http://purl.obolibrary.org/obo/GARD_0002392
http://purl.obolibrary.org/obo/GARD_0002392 EquivalentTo 'frontonasal dysplasia'
http://purl.obolibrary.org/obo/NCIT_C131849
'cortisone reductase deficiency 1' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C131849
http://purl.obolibrary.org/obo/GARD_0002339
http://purl.obolibrary.org/obo/GARD_0002339 EquivalentTo 'Finnish type amyloidosis'
http://purl.obolibrary.org/obo/GARD_0002343
http://purl.obolibrary.org/obo/GARD_0002343 EquivalentTo 'paraplegia-brachydactyly-cone-shaped epiphysis syndrome'
http://purl.obolibrary.org/obo/GARD_0002344
http://purl.obolibrary.org/obo/GARD_0002344 EquivalentTo 'paraplegia-intellectual disability-hyperkeratosis syndrome'
http://purl.obolibrary.org/obo/NCIT_C131839
'exercise-induced hyperinsulinism' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C131839
http://purl.obolibrary.org/obo/GARD_0002355
http://purl.obolibrary.org/obo/GARD_0002355 EquivalentTo 'ichthyosis, follicular'
http://purl.obolibrary.org/obo/NCIT_C131832
'hyperinsulinism-hyperammonemia syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C131832
http://purl.obolibrary.org/obo/GARD_0002365
http://purl.obolibrary.org/obo/GARD_0002365 EquivalentTo 'polycystic ovaries-urethral sphincter dysfunction syndrome'
http://purl.obolibrary.org/obo/SCTID_414032001
'pigmentation disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_414032001
http://purl.obolibrary.org/obo/GARD_0002362
http://purl.obolibrary.org/obo/GARD_0002362 EquivalentTo 'cardiospondylocarpofacial syndrome'
http://purl.obolibrary.org/obo/NCIT_C131813
'hyperthyroxinemia, familial dysalbuminemic' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C131813
http://purl.obolibrary.org/obo/NCIT_C131815
'generalized lipodystrophy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C131815
http://purl.obolibrary.org/obo/SCTID_422338006
'macular degeneration' EquivalentTo http://purl.obolibrary.org/obo/SCTID_422338006
http://purl.obolibrary.org/obo/MESH_D005330
http://purl.obolibrary.org/obo/MESH_D005330 EquivalentTo 'twin to twin transfusion syndrome'
http://www.orpha.net/ORDO/Orphanet_1044
'adenosine triphosphatase deficiency, anemia due to' EquivalentTo http://www.orpha.net/ORDO/Orphanet_1044
http://purl.obolibrary.org/obo/NCIT_C50587
'hyalitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C50587
http://purl.obolibrary.org/obo/SCTID_182747006
'Westphal disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_182747006
http://purl.obolibrary.org/obo/MESH_D005329
http://purl.obolibrary.org/obo/MESH_D005329 EquivalentTo 'fetishism'
http://purl.obolibrary.org/obo/MESH_D020945
http://purl.obolibrary.org/obo/MESH_D020945 EquivalentTo 'central nervous system lupus'
http://purl.obolibrary.org/obo/MESH_D005317
http://purl.obolibrary.org/obo/MESH_D005317 EquivalentTo 'fetal growth restriction'
http://purl.obolibrary.org/obo/SCTID_238898001
'pressure-induced localized lipoatrophy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_238898001
http://purl.obolibrary.org/obo/SCTID_459063003
'PMM2-CDG' EquivalentTo http://purl.obolibrary.org/obo/SCTID_459063003
http://purl.obolibrary.org/obo/NCIT_C50521
'cytomegalovirus retinitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C50521
http://purl.obolibrary.org/obo/SCTID_232461002
'laryngotracheoesophageal cleft' EquivalentTo http://purl.obolibrary.org/obo/SCTID_232461002
http://purl.obolibrary.org/obo/GARD_0012454
http://purl.obolibrary.org/obo/GARD_0012454 EquivalentTo 'Charcot-Marie-tooth disease recessive intermediate b'
http://purl.obolibrary.org/obo/GARD_0012458
http://purl.obolibrary.org/obo/GARD_0012458 EquivalentTo 'sickle cell-hemoglobin d disease syndrome'
http://purl.obolibrary.org/obo/GARD_0012471
http://purl.obolibrary.org/obo/GARD_0012471 EquivalentTo 'leukoencephalopathy-dystonia-motor neuropathy syndrome'
http://purl.obolibrary.org/obo/GARD_0012474
http://purl.obolibrary.org/obo/GARD_0012474 EquivalentTo 'Ehlers-Danlos syndrome, periodontitis type'
http://purl.obolibrary.org/obo/GARD_0012472
http://purl.obolibrary.org/obo/GARD_0012472 EquivalentTo 'CADDS'
http://purl.obolibrary.org/obo/GARD_0012486
http://purl.obolibrary.org/obo/GARD_0012486 EquivalentTo 'corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome'
http://purl.obolibrary.org/obo/GARD_0012483
http://purl.obolibrary.org/obo/GARD_0012483 EquivalentTo 'cor triatriatum dexter (disease)'
http://purl.obolibrary.org/obo/GARD_0012478
http://purl.obolibrary.org/obo/GARD_0012478 EquivalentTo 'platelet-type bleeding disorder 8'
http://purl.obolibrary.org/obo/GARD_0012489
http://purl.obolibrary.org/obo/GARD_0012489 EquivalentTo 'X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome'
http://purl.obolibrary.org/obo/GARD_0012487
http://purl.obolibrary.org/obo/GARD_0012487 EquivalentTo 'intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome'
http://purl.obolibrary.org/obo/GARD_0012412
http://purl.obolibrary.org/obo/GARD_0012412 EquivalentTo 'COG4-CDG'
http://purl.obolibrary.org/obo/GARD_0012413
http://purl.obolibrary.org/obo/GARD_0012413 EquivalentTo 'TMEM165-CDG'
http://purl.obolibrary.org/obo/GARD_0012411
http://purl.obolibrary.org/obo/GARD_0012411 EquivalentTo 'COG8-CDG'
http://purl.obolibrary.org/obo/GARD_0012416
http://purl.obolibrary.org/obo/GARD_0012416 EquivalentTo 'congenital muscular dystrophy with intellectual disability and severe epilepsy'
http://purl.obolibrary.org/obo/GARD_0012430
http://purl.obolibrary.org/obo/GARD_0012430 EquivalentTo 'CREST syndrome'
http://purl.obolibrary.org/obo/GARD_0012431
http://purl.obolibrary.org/obo/GARD_0012431 EquivalentTo 'Charcot-Marie-tooth disease type 2'
http://purl.obolibrary.org/obo/ICD10_D81.819
http://purl.obolibrary.org/obo/ICD10_D81.819 EquivalentTo 'multiple carboxylase deficiency'
http://purl.obolibrary.org/obo/GARD_0012429
http://purl.obolibrary.org/obo/GARD_0012429 EquivalentTo 'Charcot-Marie-tooth disease axonal type 2N'
http://purl.obolibrary.org/obo/GARD_0012421
http://purl.obolibrary.org/obo/GARD_0012421 EquivalentTo 'partial duplication of the short arm of chromosome X'
http://purl.obolibrary.org/obo/GARD_0012428
http://purl.obolibrary.org/obo/GARD_0012428 EquivalentTo 'cutaneous collagenous vasculopathy'
http://purl.obolibrary.org/obo/GARD_0012426
http://purl.obolibrary.org/obo/GARD_0012426 EquivalentTo 'pseudo-TORCH syndrome'
http://purl.obolibrary.org/obo/GARD_0012440
http://purl.obolibrary.org/obo/GARD_0012440 EquivalentTo 'Charcot-Marie-tooth disease type 4'
http://purl.obolibrary.org/obo/GARD_0012434
http://purl.obolibrary.org/obo/GARD_0012434 EquivalentTo 'Charcot-Marie-tooth disease axonal type 2O'
http://purl.obolibrary.org/obo/GARD_0012435
http://purl.obolibrary.org/obo/GARD_0012435 EquivalentTo 'Charcot-Marie-tooth disease axonal type 2P'
http://purl.obolibrary.org/obo/GARD_0012432
http://purl.obolibrary.org/obo/GARD_0012432 EquivalentTo 'Charcot-Marie-tooth disease axonal type 2L'
http://purl.obolibrary.org/obo/GARD_0012433
http://purl.obolibrary.org/obo/GARD_0012433 EquivalentTo 'Charcot-Marie-tooth disease type 1'
http://purl.obolibrary.org/obo/GARD_0012438
http://purl.obolibrary.org/obo/GARD_0012438 EquivalentTo 'Charcot-Marie-tooth disease dominant intermediate b'
http://purl.obolibrary.org/obo/GARD_0012439
http://purl.obolibrary.org/obo/GARD_0012439 EquivalentTo 'Charcot-Marie-tooth disease dominant intermediate c'
http://purl.obolibrary.org/obo/GARD_0012436
http://purl.obolibrary.org/obo/GARD_0012436 EquivalentTo 'autosomal dominant intermediate Charcot-Marie-tooth disease'
http://purl.obolibrary.org/obo/GARD_0012437
http://purl.obolibrary.org/obo/GARD_0012437 EquivalentTo 'Charcot-Marie-tooth disease dominant intermediate a'
http://purl.obolibrary.org/obo/GARD_0012453
http://purl.obolibrary.org/obo/GARD_0012453 EquivalentTo 'Charcot-Marie-tooth disease recessive intermediate a'
http://purl.obolibrary.org/obo/GARD_0012445
http://purl.obolibrary.org/obo/GARD_0012445 EquivalentTo 'Charcot-Marie-tooth disease X-linked dominant 6'
http://purl.obolibrary.org/obo/GARD_0012446
http://purl.obolibrary.org/obo/GARD_0012446 EquivalentTo 'Charcot-Marie-tooth disease axonal type 2Q'
http://purl.obolibrary.org/obo/GARD_0012444
http://purl.obolibrary.org/obo/GARD_0012444 EquivalentTo 'Charcot-Marie-tooth disease type X'
http://purl.obolibrary.org/obo/GARD_0012447
http://purl.obolibrary.org/obo/GARD_0012447 EquivalentTo 'giant axonal neuropathy 2'
http://purl.obolibrary.org/obo/SCTID_58750007
'plague' EquivalentTo http://purl.obolibrary.org/obo/SCTID_58750007
http://purl.obolibrary.org/obo/SCTID_4089001
'meningococcemia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_4089001
http://purl.obolibrary.org/obo/ICD10_A52.3
http://purl.obolibrary.org/obo/ICD10_A52.3 EquivalentTo 'neurosyphilis'
http://purl.obolibrary.org/obo/MONDO_0041114
peripheral ischemia
'peripheral ischemia' SubClassOf 'ischemic disease'
'peripheral ischemia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_233958001
http://purl.obolibrary.org/obo/NCIT_C116780
'linear scleroderma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C116780
http://purl.obolibrary.org/obo/MESH_D020430
http://purl.obolibrary.org/obo/MESH_D020430 EquivalentTo 'cubital tunnel syndrome'
http://purl.obolibrary.org/obo/MONDO_0041154
functional disorder of bladder neck and sphincter mechanism
'functional disorder of bladder neck and sphincter mechanism' EquivalentTo http://purl.obolibrary.org/obo/SCTID_236644005
'functional disorder of bladder neck and sphincter mechanism' SubClassOf 'urinary bladder disease'
http://purl.obolibrary.org/obo/MONDO_0041167
carcinoid crisis
'carcinoid crisis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_237833006
'carcinoid crisis' SubClassOf 'carcinoid syndrome'
http://purl.obolibrary.org/obo/MONDO_0041161
endometrial hyperplasia
'endometrial hyperplasia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3013
'endometrial hyperplasia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_237072009
'endometrial hyperplasia' SubClassOf 'endometrial disease'
http://purl.obolibrary.org/obo/MONDO_0041182
polymorphic light eruption
'polymorphic light eruption' EquivalentTo http://purl.obolibrary.org/obo/SCTID_238525001
'polymorphic light eruption' SubClassOf 'photosensitivity disease'
http://purl.obolibrary.org/obo/SCTID_95691008
'arteriosclerotic retinopathy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_95691008
http://purl.obolibrary.org/obo/MONDO_0041186
Rowell syndrome
'Rowell syndrome' SubClassOf 'cutaneous lupus erythematosus'
'Rowell syndrome' SubClassOf 'disease shares features of' some 'erythema multiforme'
'Rowell syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_238926009
http://purl.obolibrary.org/obo/NCIT_C2850
'achlorhydria' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C2850
http://purl.obolibrary.org/obo/SCTID_190794006
'Gaucher disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_190794006
http://purl.obolibrary.org/obo/SCTID_105997008
'biliary tract disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_105997008
http://purl.obolibrary.org/obo/GARD_0012409
http://purl.obolibrary.org/obo/GARD_0012409 EquivalentTo 'SLC35A1-CDG'
http://purl.obolibrary.org/obo/GARD_0012401
http://purl.obolibrary.org/obo/GARD_0012401 EquivalentTo 'ALG13-CDG'
http://purl.obolibrary.org/obo/GARD_0012405
http://purl.obolibrary.org/obo/GARD_0012405 EquivalentTo 'SSR4-CDG'
http://purl.obolibrary.org/obo/GARD_0012404
http://purl.obolibrary.org/obo/GARD_0012404 EquivalentTo 'alacrima, achalasia, and mental retardation syndrome'
http://purl.obolibrary.org/obo/SCTID_447785000
'gastric leiomyosarcoma (disease)' EquivalentTo http://purl.obolibrary.org/obo/SCTID_447785000
http://purl.obolibrary.org/obo/SCTID_417081007
'short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_417081007
http://purl.obolibrary.org/obo/GARD_0012335
http://purl.obolibrary.org/obo/GARD_0012335 EquivalentTo 'carcinosarcoma of the corpus uteri'
http://purl.obolibrary.org/obo/GARD_0012353
http://purl.obolibrary.org/obo/GARD_0012353 EquivalentTo 'Gamstorp-Wohlfart syndrome'
http://purl.obolibrary.org/obo/GARD_0012347
http://purl.obolibrary.org/obo/GARD_0012347 EquivalentTo 'dihydropyrimidinuria'
http://purl.obolibrary.org/obo/GARD_0012348
http://purl.obolibrary.org/obo/GARD_0012348 EquivalentTo 'COG5-CDG'
http://purl.obolibrary.org/obo/GARD_0012360
http://purl.obolibrary.org/obo/GARD_0012360 EquivalentTo 'microcytic anemia with liver iron overload'
http://purl.obolibrary.org/obo/GARD_0012361
http://purl.obolibrary.org/obo/GARD_0012361 EquivalentTo 'eosinophil peroxidase deficiency'
http://purl.obolibrary.org/obo/GARD_0012365
http://purl.obolibrary.org/obo/GARD_0012365 EquivalentTo 'spinocerebellar ataxia type 19/22'
http://purl.obolibrary.org/obo/GARD_0012362
http://purl.obolibrary.org/obo/GARD_0012362 EquivalentTo 'familial hyperaldosteronism type III'
http://purl.obolibrary.org/obo/GARD_0012371
http://purl.obolibrary.org/obo/GARD_0012371 EquivalentTo 'spinocerebellar ataxia type 40'
http://purl.obolibrary.org/obo/GARD_0012375
http://purl.obolibrary.org/obo/GARD_0012375 EquivalentTo 'idiopathic CD4 lymphocytopenia'
http://purl.obolibrary.org/obo/GARD_0012368
http://purl.obolibrary.org/obo/GARD_0012368 EquivalentTo 'spinocerebellar ataxia type 37'
http://purl.obolibrary.org/obo/GARD_0012369
http://purl.obolibrary.org/obo/GARD_0012369 EquivalentTo 'spinocerebellar ataxia type 38'
http://purl.obolibrary.org/obo/GARD_0012366
http://purl.obolibrary.org/obo/GARD_0012366 EquivalentTo 'spinocerebellar ataxia type 35'
http://purl.obolibrary.org/obo/GARD_0012367
http://purl.obolibrary.org/obo/GARD_0012367 EquivalentTo 'spinocerebellar ataxia type 36'
http://purl.obolibrary.org/obo/GARD_0002978
http://purl.obolibrary.org/obo/GARD_0002978 EquivalentTo 'anterior segment dysgenesis 3'
http://purl.obolibrary.org/obo/GARD_0002981
http://purl.obolibrary.org/obo/GARD_0002981 EquivalentTo 'ciliary dyskinesia with defective radial spokes'
http://purl.obolibrary.org/obo/GARD_0002989
http://purl.obolibrary.org/obo/GARD_0002989 EquivalentTo 'imperforate oropharynx-costo vetebral anomalies syndrome'
http://purl.obolibrary.org/obo/GARD_0002992
http://purl.obolibrary.org/obo/GARD_0002992 EquivalentTo 'Ito hypomelanosis'
http://purl.obolibrary.org/obo/GARD_0012308
http://purl.obolibrary.org/obo/GARD_0012308 EquivalentTo 'median arcuate ligament syndrome'
http://purl.obolibrary.org/obo/NCIT_C116813
'candidiasis, invasive' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C116813
http://purl.obolibrary.org/obo/GARD_0012301
http://purl.obolibrary.org/obo/GARD_0012301 EquivalentTo 'myotonia congenita'
http://purl.obolibrary.org/obo/GARD_0002994
http://purl.obolibrary.org/obo/GARD_0002994 EquivalentTo 'indomethacin embryofetopathy'
http://purl.obolibrary.org/obo/GARD_0012314
http://purl.obolibrary.org/obo/GARD_0012314 EquivalentTo 'autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome'
http://purl.obolibrary.org/obo/GARD_0012315
http://purl.obolibrary.org/obo/GARD_0012315 EquivalentTo 'NGLY1-deficiency'
http://purl.obolibrary.org/obo/GARD_0012331
http://purl.obolibrary.org/obo/GARD_0012331 EquivalentTo 'intestinal lymphangiectasia (disease)'
http://purl.obolibrary.org/obo/GARD_0012328
http://purl.obolibrary.org/obo/GARD_0012328 EquivalentTo 'hereditary sensory and autonomic neuropathy type 5'
http://purl.obolibrary.org/obo/MESH_D019349
http://purl.obolibrary.org/obo/MESH_D019349 EquivalentTo 'Roseolovirus infectious disease'
http://purl.obolibrary.org/obo/MESH_D019351
http://purl.obolibrary.org/obo/MESH_D019351 EquivalentTo 'mumps virus infectious disease'
http://purl.obolibrary.org/obo/MESH_D019350
http://purl.obolibrary.org/obo/MESH_D019350 EquivalentTo 'Astroviridae infectious disease'
http://purl.obolibrary.org/obo/GARD_0012382
http://purl.obolibrary.org/obo/GARD_0012382 EquivalentTo 'sudden infant death-dysgenesis of the testes syndrome'
http://purl.obolibrary.org/obo/PR_000007050
http://purl.obolibrary.org/obo/GARD_0012383
http://purl.obolibrary.org/obo/GARD_0012383 EquivalentTo 'vasculitis due to ADA2 deficiency'
http://purl.obolibrary.org/obo/GARD_0012384
http://purl.obolibrary.org/obo/GARD_0012384 EquivalentTo 'hypopigmentation-punctate palmoplantar keratoderma syndrome'
http://purl.obolibrary.org/obo/GARD_0012385
http://purl.obolibrary.org/obo/GARD_0012385 EquivalentTo 'male infertility due to large-headed multiflagellar polyploid spermatozoa'
http://purl.obolibrary.org/obo/GARD_0012393
http://purl.obolibrary.org/obo/GARD_0012393 EquivalentTo 'DK1-CDG'
http://purl.obolibrary.org/obo/GARD_0012394
http://purl.obolibrary.org/obo/GARD_0012394 EquivalentTo 'RFT1-CDG'
http://purl.obolibrary.org/obo/GARD_0012397
http://purl.obolibrary.org/obo/GARD_0012397 EquivalentTo 'SRD5A3-CDG'
http://purl.obolibrary.org/obo/GARD_0012398
http://purl.obolibrary.org/obo/GARD_0012398 EquivalentTo 'DDOST-CDG'
http://purl.obolibrary.org/obo/GARD_0012395
http://purl.obolibrary.org/obo/GARD_0012395 EquivalentTo 'DPM3-CDG'
http://purl.obolibrary.org/obo/GARD_0012396
http://purl.obolibrary.org/obo/GARD_0012396 EquivalentTo 'ALG11-CDG'
http://purl.obolibrary.org/obo/MONDO_0041008
contact dermatitis caused by poison oak
'contact dermatitis caused by poison oak' EquivalentTo http://purl.obolibrary.org/obo/SCTID_200824008
'contact dermatitis caused by poison oak' SubClassOf 'toxicodendron dermatitis'
http://purl.obolibrary.org/obo/MESH_D009976
http://purl.obolibrary.org/obo/MESH_D009976 EquivalentTo 'Orthomyxoviridae infectious disease'
http://purl.obolibrary.org/obo/SCTID_126805009
'palatal neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_126805009
http://purl.obolibrary.org/obo/GARD_0012388
http://purl.obolibrary.org/obo/GARD_0012388 EquivalentTo 'chromosome 16p11.2 duplication syndrome'
http://purl.obolibrary.org/obo/MESH_D020300
http://purl.obolibrary.org/obo/MESH_D020300 EquivalentTo 'intracranial hemorrhage'
http://purl.obolibrary.org/obo/MESH_D019310
http://purl.obolibrary.org/obo/MESH_D019310 EquivalentTo 'pseudolymphoma'
http://purl.obolibrary.org/obo/SCTID_35607004
'panic disorder with agoraphobia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_35607004
http://purl.obolibrary.org/obo/SCTID_400038003
'developmental defect during embryogenesis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_400038003
http://purl.obolibrary.org/obo/MONDO_0041086
mixed anxiety and depressive disorder
'mixed anxiety and depressive disorder' SubClassOf 'depressive disorder'
'mixed anxiety and depressive disorder' EquivalentTo 'depressive disorder' and 'anxiety disorder'
'mixed anxiety and depressive disorder' EquivalentTo http://purl.obolibrary.org/obo/SCTID_231504006
'mixed anxiety and depressive disorder' SubClassOf 'anxiety disorder'
http://purl.obolibrary.org/obo/MONDO_0041052
postherpetic neuralgia
'postherpetic neuralgia' SubClassOf 'post-infectious neuralgia'
'postherpetic neuralgia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_2177002
http://www.orpha.net/ORDO/Orphanet_159752
'coronary artery disease, autosomal dominant 2' EquivalentTo http://www.orpha.net/ORDO/Orphanet_159752
http://purl.obolibrary.org/obo/GARD_0002938
http://purl.obolibrary.org/obo/GARD_0002938 EquivalentTo 'hypothyroidism due to iodide transport defect'
http://purl.obolibrary.org/obo/GARD_0002932
http://purl.obolibrary.org/obo/GARD_0002932 EquivalentTo 'hypothalamic dysfunction'
http://purl.obolibrary.org/obo/SCTID_27868004
'steatorrhea (disease)' EquivalentTo http://purl.obolibrary.org/obo/SCTID_27868004
http://purl.obolibrary.org/obo/GARD_0002947
http://purl.obolibrary.org/obo/GARD_0002947 EquivalentTo 'ichthyosis-cheek-eyebrow syndrome'
http://purl.obolibrary.org/obo/GARD_0002943
http://purl.obolibrary.org/obo/GARD_0002943 EquivalentTo 'hypoxanthine-guanine phosphoribosyltransferase deficiency'
http://purl.obolibrary.org/obo/GARD_0002944
http://purl.obolibrary.org/obo/GARD_0002944 EquivalentTo 'photosensitive trichothiodystrophy'
http://purl.obolibrary.org/obo/GARD_0002945
http://purl.obolibrary.org/obo/GARD_0002945 EquivalentTo 'immunodeficiency-centromeric instability-facial anomalies syndrome'
http://purl.obolibrary.org/obo/GARD_0002946
http://purl.obolibrary.org/obo/GARD_0002946 EquivalentTo 'ichthyosiform erythroderma, corneal involvement, and deafness'
http://purl.obolibrary.org/obo/MONDO_0041093
central retinal vein occlusion with macular edema
'central retinal vein occlusion with macular edema' SubClassOf 'central retinal vein occlusion'
'central retinal vein occlusion with macular edema' EquivalentTo http://purl.obolibrary.org/obo/SCTID_232039004
'central retinal vein occlusion with macular edema' SubClassOf 'disease HAS feature' some 'macular retinal edema'
'central retinal vein occlusion with macular edema' EquivalentTo 'central retinal vein occlusion' and ('disease HAS feature' some 'macular retinal edema')
http://purl.obolibrary.org/obo/GARD_0002954
http://purl.obolibrary.org/obo/GARD_0002954 EquivalentTo 'ichthyosis hystrix of Curth-Macklin'
http://purl.obolibrary.org/obo/GARD_0002957
http://purl.obolibrary.org/obo/GARD_0002957 EquivalentTo 'ichthyosis-mental retardation syndrome with large keratohyalin granules 1N the skin'
http://purl.obolibrary.org/obo/MONDO_0041095
malignant otitis externa caused by Pseudomonas aeruginosa
'malignant otitis externa caused by Pseudomonas aeruginosa' EquivalentTo 'malignant otitis externa' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_287)
'malignant otitis externa caused by Pseudomonas aeruginosa' SubClassOf 'Pseudomonas aeruginosa infectious disease'
'malignant otitis externa caused by Pseudomonas aeruginosa' SubClassOf 'malignant otitis externa'
'malignant otitis externa caused by Pseudomonas aeruginosa' EquivalentTo http://purl.obolibrary.org/obo/SCTID_232230009
'malignant otitis externa caused by Pseudomonas aeruginosa' SubClassOf 'rare bacterial infectious disease'
http://purl.obolibrary.org/obo/GARD_0002952
http://purl.obolibrary.org/obo/GARD_0002952 EquivalentTo 'ichthyosis follicularis-alopecia-photophobia syndrome'
http://purl.obolibrary.org/obo/GARD_0002960
http://purl.obolibrary.org/obo/GARD_0002960 EquivalentTo 'ichthyosis-oral and digital anomalies syndrome'
http://purl.obolibrary.org/obo/GARD_0002967
http://purl.obolibrary.org/obo/GARD_0002967 EquivalentTo 'ichthyosis linearis circumflexa'
http://purl.obolibrary.org/obo/GARD_0002908
http://purl.obolibrary.org/obo/GARD_0002908 EquivalentTo 'mullerian duct anomalies-limb anomalies syndrome'
http://purl.obolibrary.org/obo/GARD_0002905
http://purl.obolibrary.org/obo/GARD_0002905 EquivalentTo 'familial dilated cardiomyopathy'
http://purl.obolibrary.org/obo/GARD_0002906
http://purl.obolibrary.org/obo/GARD_0002906 EquivalentTo 'primary hypomagnesemia'
http://purl.obolibrary.org/obo/GARD_0002910
http://purl.obolibrary.org/obo/GARD_0002910 EquivalentTo 'hypoparathyroidism, familial isolated; FIH'
http://purl.obolibrary.org/obo/GARD_0002911
http://purl.obolibrary.org/obo/GARD_0002911 EquivalentTo 'hypoparathyroidism-deafness-renal disease syndrome'
http://purl.obolibrary.org/obo/GARD_0002929
http://purl.obolibrary.org/obo/GARD_0002929 EquivalentTo 'hypospadias (disease)'
http://purl.obolibrary.org/obo/HP_0000201
http://purl.obolibrary.org/obo/GARD_0012219
http://purl.obolibrary.org/obo/GARD_0012219 EquivalentTo 'chromosome 15q24 deletion syndrome'
http://purl.obolibrary.org/obo/MESH_D054079
http://purl.obolibrary.org/obo/MESH_D054079 EquivalentTo 'vascular malformation'
http://purl.obolibrary.org/obo/GARD_0012233
http://purl.obolibrary.org/obo/GARD_0012233 EquivalentTo 'intellectual disability, autosomal recessive 18'
http://purl.obolibrary.org/obo/MESH_D054060
http://purl.obolibrary.org/obo/MESH_D054060 EquivalentTo 'pulmonary embolism and infarction'
http://purl.obolibrary.org/obo/MESH_D054068
http://purl.obolibrary.org/obo/MESH_D054068 EquivalentTo 'livedo reticularis'
http://purl.obolibrary.org/obo/GARD_0012244
http://purl.obolibrary.org/obo/GARD_0012244 EquivalentTo 'new-onset refractory status epilepticus'
http://purl.obolibrary.org/obo/GARD_0012234
http://purl.obolibrary.org/obo/GARD_0012234 EquivalentTo 'autosomal recessive ataxia, Beauce type'
http://www.orpha.net/ORDO/Orphanet_497764
'spinocerebellar ataxia 43; SCA43' EquivalentTo http://www.orpha.net/ORDO/Orphanet_497764
http://purl.obolibrary.org/obo/GARD_0002858
http://purl.obolibrary.org/obo/GARD_0002858 EquivalentTo 'familial hyperthyroidism due to mutations in TSH receptor'
http://purl.obolibrary.org/obo/MESH_D054038
http://purl.obolibrary.org/obo/MESH_D054038 EquivalentTo 'posterior leukoencephalopathy syndrome'
http://purl.obolibrary.org/obo/GARD_0002865
http://purl.obolibrary.org/obo/GARD_0002865 EquivalentTo 'hypertrichosis lanuginosa congenita'
http://purl.obolibrary.org/obo/GARD_0002872
http://purl.obolibrary.org/obo/GARD_0002872 EquivalentTo 'apolipoprotein A-I deficiency'
http://purl.obolibrary.org/obo/GARD_0002878
http://purl.obolibrary.org/obo/GARD_0002878 EquivalentTo 'familial hypocalciuric hypercalcemia 3'
http://purl.obolibrary.org/obo/GARD_0002874
http://purl.obolibrary.org/obo/GARD_0002874 EquivalentTo 'rare hypoaldosteronism'
http://purl.obolibrary.org/obo/GARD_0002876
http://purl.obolibrary.org/obo/GARD_0002876 EquivalentTo 'familial hypobetalipoproteinemia 1'
http://purl.obolibrary.org/obo/GARD_0002889
http://purl.obolibrary.org/obo/GARD_0002889 EquivalentTo 'glycogen storage disease due to hepatic glycogen synthase deficiency'
http://www.ebi.ac.uk/efo/EFO_1000871
'colonic pseudo-obstruction' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000871
http://purl.obolibrary.org/obo/NCIT_C39594
'exanthem (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C39594
http://www.ebi.ac.uk/efo/EFO_1000886
'cutaneous mastocytosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000886
http://www.ebi.ac.uk/efo/EFO_1000894
'dermoid cyst' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000894
http://purl.obolibrary.org/obo/SCTID_231828003
'eyelid capillary hemangioma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_231828003
http://purl.obolibrary.org/obo/GARD_0012267
http://purl.obolibrary.org/obo/GARD_0012267 EquivalentTo 'channelopathy-associated congenital insensitivity to pain'
http://purl.obolibrary.org/obo/GARD_0012281
http://purl.obolibrary.org/obo/GARD_0012281 EquivalentTo 'chronic atrial and intestinal dysrhythmia'
http://purl.obolibrary.org/obo/GARD_0012285
http://purl.obolibrary.org/obo/GARD_0012285 EquivalentTo 'ovarian sex cord-stromal tumor'
http://purl.obolibrary.org/obo/GARD_0012279
http://purl.obolibrary.org/obo/GARD_0012279 EquivalentTo 'ectomesenchymoma'
http://purl.obolibrary.org/obo/GARD_0012291
http://purl.obolibrary.org/obo/GARD_0012291 EquivalentTo 'lissencephaly (disease)'
http://www.ebi.ac.uk/efo/EFO_1000804
'anal gland neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000804
http://www.ebi.ac.uk/efo/EFO_1000848
'breast cyst' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000848
http://www.ebi.ac.uk/efo/EFO_1000849
'bronchial neoplasm (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000849
http://purl.obolibrary.org/obo/SCTID_82500001
'Wolman disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_82500001
http://www.ebi.ac.uk/efo/EFO_1000856
'central neurocytoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000856
http://purl.obolibrary.org/obo/GARD_0002818
http://purl.obolibrary.org/obo/GARD_0002818 EquivalentTo 'hyperinsulinism due to glucokinase deficiency'
http://purl.obolibrary.org/obo/GARD_0002828
http://purl.obolibrary.org/obo/GARD_0002828 EquivalentTo 'hyperlysinemia (disease)'
http://purl.obolibrary.org/obo/GARD_0002824
http://purl.obolibrary.org/obo/GARD_0002824 EquivalentTo 'hyperkeratosis lenticularis perstans (disease)'
http://purl.obolibrary.org/obo/GARD_0002837
http://purl.obolibrary.org/obo/GARD_0002837 EquivalentTo 'familial primary hyperparathyroidism'
http://purl.obolibrary.org/obo/GARD_0002838
http://purl.obolibrary.org/obo/GARD_0002838 EquivalentTo 'neonatal severe primary hyperparathyroidism'
http://purl.obolibrary.org/obo/GARD_0002833
http://purl.obolibrary.org/obo/GARD_0002833 EquivalentTo 'hyperostosis corticalis generalisata'
http://purl.obolibrary.org/obo/GARD_0002830
http://purl.obolibrary.org/obo/GARD_0002830 EquivalentTo 'ornithine translocase deficiency'
http://purl.obolibrary.org/obo/GARD_0002843
http://purl.obolibrary.org/obo/GARD_0002843 EquivalentTo 'dehydratase deficiency'
http://purl.obolibrary.org/obo/NCBITaxon_1402491
http://purl.obolibrary.org/obo/GARD_0002804
http://purl.obolibrary.org/obo/GARD_0002804 EquivalentTo 'hypereosinophilic syndrome'
http://purl.obolibrary.org/obo/GARD_0002806
http://purl.obolibrary.org/obo/GARD_0002806 EquivalentTo 'hereditary hyperferritinemia with congenital cataracts'
http://purl.obolibrary.org/obo/GARD_0002807
http://purl.obolibrary.org/obo/GARD_0002807 EquivalentTo 'isolated glycerol kinase deficiency'
http://purl.obolibrary.org/obo/NCIT_C39611
'intestinal perforation' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C39611
http://purl.obolibrary.org/obo/GARD_0002775
http://purl.obolibrary.org/obo/GARD_0002775 EquivalentTo 'hydrocephalus-obesity-hypogonadism syndrome'
http://purl.obolibrary.org/obo/GARD_0002783
http://purl.obolibrary.org/obo/GARD_0002783 EquivalentTo 'hydrops fetalis (disease)'
http://purl.obolibrary.org/obo/GARD_0002789
http://purl.obolibrary.org/obo/GARD_0002789 EquivalentTo 'familial hyperaldosteronism type II'
http://purl.obolibrary.org/obo/GARD_0002788
http://purl.obolibrary.org/obo/GARD_0002788 EquivalentTo 'hyperimmunoglobulinemia d with periodic fever'
http://purl.obolibrary.org/obo/GARD_0002793
http://purl.obolibrary.org/obo/GARD_0002793 EquivalentTo 'Dubin-Johnson syndrome'
http://purl.obolibrary.org/obo/GARD_0012109
http://purl.obolibrary.org/obo/GARD_0012109 EquivalentTo 'trichothiodystrophy'
http://purl.obolibrary.org/obo/GARD_0012123
http://purl.obolibrary.org/obo/GARD_0012123 EquivalentTo 'congenital absence of upper arm and forearm with hand present'
http://purl.obolibrary.org/obo/GARD_0002796
http://purl.obolibrary.org/obo/GARD_0002796 EquivalentTo 'familial hypocalciuric hypercalcemia 1'
http://purl.obolibrary.org/obo/SCTID_14637005
'late infantile neuronal ceroid lipofuscinosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_14637005
http://purl.obolibrary.org/obo/HP_0000107
http://purl.obolibrary.org/obo/GARD_0012128
http://purl.obolibrary.org/obo/GARD_0012128 EquivalentTo 'methylmalonic aciduria and homocystinuria type cblC'
http://purl.obolibrary.org/obo/GARD_0002734
http://purl.obolibrary.org/obo/GARD_0002734 EquivalentTo 'homocystinuria due to methylene tetrahydrofolate reductase deficiency'
http://www.orpha.net/ORDO/Orphanet_458274
'hairy nose tip' EquivalentTo http://www.orpha.net/ORDO/Orphanet_458274
http://purl.obolibrary.org/obo/GARD_0002736
http://purl.obolibrary.org/obo/GARD_0002736 EquivalentTo 'hordnes engebretsen knudtson syndrome'
http://purl.obolibrary.org/obo/GARD_0002730
http://purl.obolibrary.org/obo/GARD_0002730 EquivalentTo 'homocarnosinosis'
http://purl.obolibrary.org/obo/GARD_0002732
http://purl.obolibrary.org/obo/GARD_0002732 EquivalentTo 'methylcobalamin deficiency type cblE'
http://purl.obolibrary.org/obo/GARD_0002733
http://purl.obolibrary.org/obo/GARD_0002733 EquivalentTo 'methylcobalamin deficiency type cblG'
http://purl.obolibrary.org/obo/GARD_0002756
http://purl.obolibrary.org/obo/GARD_0002756 EquivalentTo 'trigonocephaly-broad thumbs syndrome'
http://purl.obolibrary.org/obo/GARD_0002754
http://purl.obolibrary.org/obo/GARD_0002754 EquivalentTo 'Hunter-McAlpine craniosynostosis'
http://purl.obolibrary.org/obo/GARD_0002765
http://purl.obolibrary.org/obo/GARD_0002765 EquivalentTo 'X-linked intellectual disability-plagiocephaly syndrome'
http://www.ebi.ac.uk/efo/EFO_1000989
'intestinal volvulus' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000989
http://www.ebi.ac.uk/efo/EFO_1000988
'intestinal pseudo-obstruction' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000988
http://purl.obolibrary.org/obo/GARD_0012199
http://purl.obolibrary.org/obo/GARD_0012199 EquivalentTo 'early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome'
http://www.ebi.ac.uk/efo/EFO_1000996
'iris cancer' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000996
http://purl.obolibrary.org/obo/GARD_0012141
http://purl.obolibrary.org/obo/GARD_0012141 EquivalentTo 'May-Thurner syndrome'
http://purl.obolibrary.org/obo/GARD_0012144
http://purl.obolibrary.org/obo/GARD_0012144 EquivalentTo 'dystonia 5'
http://purl.obolibrary.org/obo/GARD_0012138
http://purl.obolibrary.org/obo/GARD_0012138 EquivalentTo 'apocrine adenocarcinoma'
http://purl.obolibrary.org/obo/GARD_0012151
http://purl.obolibrary.org/obo/GARD_0012151 EquivalentTo 'norwegian scabies'
http://purl.obolibrary.org/obo/GARD_0012166
http://purl.obolibrary.org/obo/GARD_0012166 EquivalentTo '5q14.3 microdeletion syndrome'
http://purl.obolibrary.org/obo/GARD_0012173
http://purl.obolibrary.org/obo/GARD_0012173 EquivalentTo 'CDKL5 disorder'
http://purl.obolibrary.org/obo/SCTID_233607000
'streptococcal pneumonia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_233607000
http://www.ebi.ac.uk/efo/EFO_1000908
'duodenal obstruction' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000908
http://www.ebi.ac.uk/efo/EFO_1000905
'drug-induced hepatitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000905
http://www.ebi.ac.uk/efo/EFO_1000923
'epidural spinal canal neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000923
http://www.ebi.ac.uk/efo/EFO_1000920
'endometrial stromal tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000920
http://www.ebi.ac.uk/efo/EFO_1000934
'eyelid neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000934
http://purl.obolibrary.org/obo/GARD_0002708
http://purl.obolibrary.org/obo/GARD_0002708 EquivalentTo 'histidinuria due to a renal tubular defect'
http://purl.obolibrary.org/obo/GARD_0002700
http://purl.obolibrary.org/obo/GARD_0002700 EquivalentTo 'Hirschsprung disease-type D brachydactyly syndrome'
http://purl.obolibrary.org/obo/SCTID_403913006
'morpheaform basal cell carcinoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_403913006
http://purl.obolibrary.org/obo/GARD_0002712
http://purl.obolibrary.org/obo/GARD_0002712 EquivalentTo '3-hydroxy-3-methylglutaryl-CoA synthase deficiency'
http://purl.obolibrary.org/obo/GARD_0002714
http://purl.obolibrary.org/obo/GARD_0002714 EquivalentTo 'Hodgkins lymphoma'
http://purl.obolibrary.org/obo/GARD_0002728
http://purl.obolibrary.org/obo/GARD_0002728 EquivalentTo 'Holzgreve-Wagner-Rehder syndrome'
http://purl.obolibrary.org/obo/GARD_0002720
http://purl.obolibrary.org/obo/GARD_0002720 EquivalentTo 'holoacardius amorphus'
http://purl.obolibrary.org/obo/NCIT_C78598
'posterior leukoencephalopathy syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C78598
http://purl.obolibrary.org/obo/GARD_0012894
http://purl.obolibrary.org/obo/GARD_0012894 EquivalentTo 'Zika virus disease'
http://purl.obolibrary.org/obo/SCTID_74942003
'echinococcosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_74942003
http://purl.obolibrary.org/obo/SCTID_444910004
'primary mediastinal large B-cell lymphoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_444910004
http://purl.obolibrary.org/obo/MESH_D019046
http://purl.obolibrary.org/obo/MESH_D019046 EquivalentTo 'bone marrow neoplasm'
http://purl.obolibrary.org/obo/SCTID_205562004
'angiomatosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_205562004
http://www.ebi.ac.uk/efo/EFO_1000622
'VIPoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000622
http://purl.obolibrary.org/obo/MESH_C564145
http://purl.obolibrary.org/obo/MESH_C564145 EquivalentTo 'hypophosphatemic bone disease'
http://www.orpha.net/ORDO/Orphanet_409876
'malaria, mild, susceptibility to' EquivalentTo http://www.orpha.net/ORDO/Orphanet_409876
http://purl.obolibrary.org/obo/MESH_C564143
http://purl.obolibrary.org/obo/MESH_C564143 EquivalentTo 'hypotrichosis 2'
http://purl.obolibrary.org/obo/MESH_C564161
http://purl.obolibrary.org/obo/MESH_C564161 EquivalentTo 'pseudohypoaldosteronism type 2B'
http://purl.obolibrary.org/obo/MESH_C564162
http://purl.obolibrary.org/obo/MESH_C564162 EquivalentTo 'pseudohypoaldosteronism type 2C'
http://purl.obolibrary.org/obo/MESH_C564100
http://purl.obolibrary.org/obo/MESH_C564100 EquivalentTo 'syndactyly type 8'
http://www.ebi.ac.uk/efo/EFO_1000674
'carbuncle' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000674
http://www.ebi.ac.uk/efo/EFO_1000683
'cutaneous diphtheria' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000683
http://www.ebi.ac.uk/efo/EFO_1000689
'ecthyma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000689
http://www.ebi.ac.uk/efo/EFO_1000696
'erythrasma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000696
http://purl.obolibrary.org/obo/GARD_0012806
http://purl.obolibrary.org/obo/GARD_0012806 EquivalentTo 'spondylocostal dysostosis 5'
http://purl.obolibrary.org/obo/GARD_0012807
http://purl.obolibrary.org/obo/GARD_0012807 EquivalentTo 'spondylocostal dysostosis 6, autosomal recessive'
http://purl.obolibrary.org/obo/GARD_0012801
http://purl.obolibrary.org/obo/GARD_0012801 EquivalentTo 'Proteus-like syndrome'
http://www.ebi.ac.uk/efo/EFO_1000602
'transitional meningioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000602
http://www.ebi.ac.uk/efo/EFO_1000614
'uterine corpus lipoleiomyoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000614
http://purl.obolibrary.org/obo/GARD_0012860
http://purl.obolibrary.org/obo/GARD_0012860 EquivalentTo 'spinocerebellar ataxia with axonal neuropathy type 2'
http://purl.obolibrary.org/obo/GARD_0012864
http://purl.obolibrary.org/obo/GARD_0012864 EquivalentTo 'hyperlipidemia due to hepatic triglyceride lipase deficiency'
http://purl.obolibrary.org/obo/GARD_0012862
http://purl.obolibrary.org/obo/GARD_0012862 EquivalentTo 'generalized peeling skin syndrome'
http://purl.obolibrary.org/obo/GARD_0012868
http://purl.obolibrary.org/obo/GARD_0012868 EquivalentTo 'IRVAN syndrome'
http://purl.obolibrary.org/obo/GARD_0012874
http://purl.obolibrary.org/obo/GARD_0012874 EquivalentTo 'osteogenesis imperfecta type 10'
http://purl.obolibrary.org/obo/GARD_0012875
http://purl.obolibrary.org/obo/GARD_0012875 EquivalentTo 'osteogenesis imperfecta type 11'
http://purl.obolibrary.org/obo/GARD_0012892
http://purl.obolibrary.org/obo/GARD_0012892 EquivalentTo 'infantile hypertrophic cardiomyopathy due to MRPL44 deficiency'
http://purl.obolibrary.org/obo/GARD_0012889
http://purl.obolibrary.org/obo/GARD_0012889 EquivalentTo 'childhood apraxia of speech'
http://purl.obolibrary.org/obo/GARD_0012814
http://purl.obolibrary.org/obo/GARD_0012814 EquivalentTo 'Verheij syndrome'
http://purl.obolibrary.org/obo/GARD_0012815
http://purl.obolibrary.org/obo/GARD_0012815 EquivalentTo 'severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome'
http://purl.obolibrary.org/obo/GARD_0012827
http://purl.obolibrary.org/obo/GARD_0012827 EquivalentTo 'hypotrichosis-lymphedema-telangiectasia syndrome (grouping)'
http://purl.obolibrary.org/obo/GARD_0012829
http://purl.obolibrary.org/obo/GARD_0012829 EquivalentTo 'pulmonary non-tuberculous mycobacterial infection'
http://purl.obolibrary.org/obo/GARD_0012820
http://purl.obolibrary.org/obo/GARD_0012820 EquivalentTo 'pustulosis palmaris et plantaris'
http://purl.obolibrary.org/obo/GARD_0012823
http://purl.obolibrary.org/obo/GARD_0012823 EquivalentTo 'intermediate nemaline myopathy'
http://purl.obolibrary.org/obo/GARD_0012822
http://purl.obolibrary.org/obo/GARD_0012822 EquivalentTo 'typical nemaline myopathy'
http://purl.obolibrary.org/obo/GARD_0012835
http://purl.obolibrary.org/obo/GARD_0012835 EquivalentTo 'acute interstitial pneumonia'
http://purl.obolibrary.org/obo/GARD_0012845
http://purl.obolibrary.org/obo/GARD_0012845 EquivalentTo 'cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome'
http://purl.obolibrary.org/obo/GARD_0012843
http://purl.obolibrary.org/obo/GARD_0012843 EquivalentTo 'disseminated peritoneal leiomyomatosis'
http://purl.obolibrary.org/obo/GARD_0012844
http://purl.obolibrary.org/obo/GARD_0012844 EquivalentTo 'high myopia-sensorineural deafness syndrome'
http://purl.obolibrary.org/obo/SCTID_254464000
'submandibular gland neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254464000
http://purl.obolibrary.org/obo/NCIT_C126689
'autosomal dominant centronuclear myopathy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C126689
http://purl.obolibrary.org/obo/SCTID_129618003
'autonomic dysreflexia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_129618003
http://purl.obolibrary.org/obo/GARD_0012781
http://purl.obolibrary.org/obo/GARD_0012781 EquivalentTo 'multiple congenital anomalies-hypotonia-seizures syndrome 1'
http://purl.obolibrary.org/obo/GARD_0012779
http://purl.obolibrary.org/obo/GARD_0012779 EquivalentTo 'familial retinal arterial macroaneurysm'
http://purl.obolibrary.org/obo/GARD_0012777
http://purl.obolibrary.org/obo/GARD_0012777 EquivalentTo 'multiple congenital anomalies-hypotonia-seizures syndrome 2'
http://purl.obolibrary.org/obo/GARD_0012792
http://purl.obolibrary.org/obo/GARD_0012792 EquivalentTo 'ossifying fibroma (disease)'
http://purl.obolibrary.org/obo/GARD_0012798
http://purl.obolibrary.org/obo/GARD_0012798 EquivalentTo 'early-onset autosomal dominant Alzheimer disease'
http://purl.obolibrary.org/obo/GARD_0012796
http://purl.obolibrary.org/obo/GARD_0012796 EquivalentTo 'dentinogenesis imperfecta type 2'
http://purl.obolibrary.org/obo/MESH_C564256
http://purl.obolibrary.org/obo/MESH_C564256 EquivalentTo 'Charcot-Marie-tooth disease recessive intermediate a'
http://purl.obolibrary.org/obo/MESH_C564251
http://purl.obolibrary.org/obo/MESH_C564251 EquivalentTo 'OFC4'
http://purl.obolibrary.org/obo/MESH_C564268
http://purl.obolibrary.org/obo/MESH_C564268 EquivalentTo 'OTSC3'
http://www.ebi.ac.uk/efo/EFO_1000768
'spongiotic dermatitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000768
http://www.ebi.ac.uk/efo/EFO_1000798
'adrenal rest tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000798
http://purl.obolibrary.org/obo/MEDGEN_881357
http://purl.obolibrary.org/obo/MEDGEN_881357 EquivalentTo 'autosomal dominant medullary cystic kidney disease with or without hyperuricemia'
http://purl.obolibrary.org/obo/PATO_0000647
http://www.ebi.ac.uk/efo/EFO_1000714
'impetigo' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000714
http://www.ebi.ac.uk/efo/EFO_1000715
'impetigo herpetiformis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000715
http://purl.obolibrary.org/obo/GARD_0012735
http://purl.obolibrary.org/obo/GARD_0012735 EquivalentTo 'secondary adrenal insufficiency'
http://purl.obolibrary.org/obo/GARD_0012749
http://purl.obolibrary.org/obo/GARD_0012749 EquivalentTo 'hereditary spastic paraplegia 32'
http://purl.obolibrary.org/obo/SCTID_65275009
'acute cholecystitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_65275009
http://purl.obolibrary.org/obo/GARD_0012740
http://purl.obolibrary.org/obo/GARD_0012740 EquivalentTo 'non-amyloid fibrillary glomerulopathy'
http://purl.obolibrary.org/obo/GARD_0012761
http://purl.obolibrary.org/obo/GARD_0012761 EquivalentTo 'acute myeloid leukemia with multilineage dysplasia'
http://purl.obolibrary.org/obo/GARD_0012765
http://purl.obolibrary.org/obo/GARD_0012765 EquivalentTo 'transient myeloproliferative syndrome (disease)'
http://purl.obolibrary.org/obo/GARD_0012763
http://purl.obolibrary.org/obo/GARD_0012763 EquivalentTo 'myeloid sarcoma'
http://purl.obolibrary.org/obo/GARD_0012766
http://purl.obolibrary.org/obo/GARD_0012766 EquivalentTo 'chromosome Xp11.23-p11.22 duplication syndrome'
http://purl.obolibrary.org/obo/GARD_0012718
http://purl.obolibrary.org/obo/GARD_0012718 EquivalentTo 'autosomal recessive centronuclear myopathy'
http://purl.obolibrary.org/obo/GARD_0012715
http://purl.obolibrary.org/obo/GARD_0012715 EquivalentTo 'intellectual disability, X-linked 102'
http://purl.obolibrary.org/obo/GARD_0012722
http://purl.obolibrary.org/obo/GARD_0012722 EquivalentTo 'familial dyskinesia and facial myokymia'
http://www.ebi.ac.uk/efo/EFO_1000460
'carcinoma of parotid gland' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000460
http://www.orpha.net/ORDO/Orphanet_1939
'envenomization by Bothrops lanceolatus' EquivalentTo http://www.orpha.net/ORDO/Orphanet_1939
http://www.ebi.ac.uk/efo/EFO_1000493
'central nervous system melanocytic neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000493
http://purl.obolibrary.org/obo/GARD_0012652
http://purl.obolibrary.org/obo/GARD_0012652 EquivalentTo 'leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome'
http://purl.obolibrary.org/obo/GARD_0012656
http://purl.obolibrary.org/obo/GARD_0012656 EquivalentTo 'Castleman disease'
http://purl.obolibrary.org/obo/GARD_0012665
http://purl.obolibrary.org/obo/GARD_0012665 EquivalentTo 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency'
http://purl.obolibrary.org/obo/GARD_0012669
http://purl.obolibrary.org/obo/GARD_0012669 EquivalentTo 'syndromic X-linked intellectual disability Najm type'
http://purl.obolibrary.org/obo/MESH_D020271
http://purl.obolibrary.org/obo/MESH_D020271 EquivalentTo 'inherited neurodegenerative disorder'
http://purl.obolibrary.org/obo/GARD_0012679
http://purl.obolibrary.org/obo/GARD_0012679 EquivalentTo 'inherited lipoic acid biosynthesis defect'
http://purl.obolibrary.org/obo/NCIT_C116958
'Miller Fisher syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C116958
http://purl.obolibrary.org/obo/GARD_0012687
http://purl.obolibrary.org/obo/GARD_0012687 EquivalentTo 'cutaneous mastocytoma'
http://purl.obolibrary.org/obo/GARD_0012688
http://purl.obolibrary.org/obo/GARD_0012688 EquivalentTo 'hereditary sensory and autonomic neuropathy'
http://purl.obolibrary.org/obo/GARD_0012685
http://purl.obolibrary.org/obo/GARD_0012685 EquivalentTo 'hereditary motor and sensory neuropathy'
http://purl.obolibrary.org/obo/GARD_0012686
http://purl.obolibrary.org/obo/GARD_0012686 EquivalentTo 'diffuse cutaneous mastocytosis'
http://purl.obolibrary.org/obo/MESH_D020211
http://purl.obolibrary.org/obo/MESH_D020211 EquivalentTo 'autonomic dysreflexia'
http://purl.obolibrary.org/obo/NCIT_C2987
'diarrhea (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C2987
http://www.ebi.ac.uk/efo/EFO_1000410
'osteoblastoma (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000410
http://www.ebi.ac.uk/efo/EFO_1000422
'ovarian gynandroblastoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000422
http://www.ebi.ac.uk/efo/EFO_1000420
'ovarian gonadoblastoma (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000420
http://www.ebi.ac.uk/efo/EFO_1000421
'ovarian granulosa cell tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000421
http://www.ebi.ac.uk/efo/EFO_1000429
'ovarian sertoli-Leydig cell tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000429
http://www.ebi.ac.uk/efo/EFO_1000425
'ovarian seromucinous tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000425
http://purl.obolibrary.org/obo/MESH_D010850
http://purl.obolibrary.org/obo/MESH_D010850 EquivalentTo 'Picornaviridae infectious disease'
http://purl.obolibrary.org/obo/SCTID_88032003
'amaurosis fugax' EquivalentTo http://purl.obolibrary.org/obo/SCTID_88032003
http://purl.obolibrary.org/obo/MESH_D010842
http://purl.obolibrary.org/obo/MESH_D010842 EquivalentTo 'pica disease'
http://www.ebi.ac.uk/efo/EFO_1000441
'glucagonoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000441
http://www.ebi.ac.uk/efo/EFO_1000446
'pancreatoblastoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000446
http://purl.obolibrary.org/obo/MESH_D010874
http://purl.obolibrary.org/obo/MESH_D010874 EquivalentTo 'pinta disease'
http://www.ebi.ac.uk/efo/EFO_1000447
'papillary craniopharyngioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000447
http://purl.obolibrary.org/obo/NCIT_C126349
'GATA2 deficiency with susceptibility to MDS/AML' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C126349
http://www.ebi.ac.uk/efo/EFO_1000453
'paraganglioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000453
http://www.ebi.ac.uk/efo/EFO_1000451
'papillary tumor of the pineal region' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000451
http://purl.obolibrary.org/obo/NCIT_C126344
'lymphoproliferative syndrome 1' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C126344
http://purl.obolibrary.org/obo/MESH_D009879
http://purl.obolibrary.org/obo/MESH_D009879 EquivalentTo 'sympathetic ophthalmia'
http://purl.obolibrary.org/obo/SCTID_430395005
'pneumonia caused by gram negative bacteria' EquivalentTo http://purl.obolibrary.org/obo/SCTID_430395005
http://purl.obolibrary.org/obo/SCTID_89188001
'acute posterior multifocal placoid pigment epitheliopathy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_89188001
http://purl.obolibrary.org/obo/MESH_D009810
http://purl.obolibrary.org/obo/MESH_D009810 EquivalentTo 'odontoma'
http://purl.obolibrary.org/obo/MESH_D009808
http://purl.obolibrary.org/obo/MESH_D009808 EquivalentTo 'odontogenic neoplasm'
http://purl.obolibrary.org/obo/SCTID_128187005
'obsolete vascular headache' EquivalentTo http://purl.obolibrary.org/obo/SCTID_128187005
http://purl.obolibrary.org/obo/GARD_0012613
http://purl.obolibrary.org/obo/GARD_0012613 EquivalentTo 'Ehlers-Danlos syndrome, cardiac valvular type'
http://purl.obolibrary.org/obo/GARD_0012638
http://purl.obolibrary.org/obo/GARD_0012638 EquivalentTo 'pyogenic bacterial infections due to MyD88 deficiency'
http://purl.obolibrary.org/obo/GARD_0012632
http://purl.obolibrary.org/obo/GARD_0012632 EquivalentTo 'fatal multiple mitochondrial dysfunctions syndrome'
http://purl.obolibrary.org/obo/GARD_0012633
http://purl.obolibrary.org/obo/GARD_0012633 EquivalentTo 'rare non-syndromic intellectual disability'
http://purl.obolibrary.org/obo/NCIT_C116919
'central nervous system lupus' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C116919
http://purl.obolibrary.org/obo/GARD_0012643
http://purl.obolibrary.org/obo/GARD_0012643 EquivalentTo 'lethal congenital contracture syndrome'
http://purl.obolibrary.org/obo/GARD_0012642
http://purl.obolibrary.org/obo/GARD_0012642 EquivalentTo 'frontorhiny'
http://purl.obolibrary.org/obo/GARD_0012648
http://purl.obolibrary.org/obo/GARD_0012648 EquivalentTo 'isolated congenital megalocornea'
http://purl.obolibrary.org/obo/GARD_0012600
http://purl.obolibrary.org/obo/GARD_0012600 EquivalentTo 'PPARG-related familial partial lipodystrophy'
http://purl.obolibrary.org/obo/GARD_0012604
http://purl.obolibrary.org/obo/GARD_0012604 EquivalentTo 'lipodystrophy due to peptidic growth factors deficiency'
http://purl.obolibrary.org/obo/GARD_0012601
http://purl.obolibrary.org/obo/GARD_0012601 EquivalentTo 'PLIN1-related familial partial lipodystrophy'
http://purl.obolibrary.org/obo/GARD_0012584
http://purl.obolibrary.org/obo/GARD_0012584 EquivalentTo 'muscular dystrophy-dystroglycanopathy'
http://www.ebi.ac.uk/efo/EFO_1000588
'thyroid hyalinizing trabecular adenoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000588
http://purl.obolibrary.org/obo/MESH_C564091
http://purl.obolibrary.org/obo/MESH_C564091 EquivalentTo 'MYP1'
http://purl.obolibrary.org/obo/GARD_0012590
http://purl.obolibrary.org/obo/GARD_0012590 EquivalentTo 'congenital fibrosis of extraocular muscles'
http://www.orpha.net/ORDO/Orphanet_1831
'Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities' EquivalentTo http://www.orpha.net/ORDO/Orphanet_1831
http://purl.obolibrary.org/obo/GARD_0012587
http://purl.obolibrary.org/obo/GARD_0012587 EquivalentTo 'congenital muscular dystrophy due to integrin alpha-7 deficiency'
http://purl.obolibrary.org/obo/GARD_0012599
http://purl.obolibrary.org/obo/GARD_0012599 EquivalentTo 'AKT2-related familial partial lipodystrophy'
http://purl.obolibrary.org/obo/GARD_0012598
http://purl.obolibrary.org/obo/GARD_0012598 EquivalentTo 'familial partial lipodystrophy, KC6bberling type'
http://purl.obolibrary.org/obo/MESH_D020183
http://purl.obolibrary.org/obo/MESH_D020183 EquivalentTo 'nocturnal paroxysmal dystonia'
http://purl.obolibrary.org/obo/GARD_0012540
http://purl.obolibrary.org/obo/GARD_0012540 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2O'
http://purl.obolibrary.org/obo/GARD_0012541
http://purl.obolibrary.org/obo/GARD_0012541 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2P'
http://purl.obolibrary.org/obo/SCTID_277597005
'chromosome 5q deletion syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_277597005
http://purl.obolibrary.org/obo/GARD_0012539
http://purl.obolibrary.org/obo/GARD_0012539 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2N'
http://purl.obolibrary.org/obo/GARD_0012533
http://purl.obolibrary.org/obo/GARD_0012533 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2I'
http://purl.obolibrary.org/obo/GARD_0012534
http://purl.obolibrary.org/obo/GARD_0012534 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2J'
http://purl.obolibrary.org/obo/GARD_0012531
http://purl.obolibrary.org/obo/GARD_0012531 EquivalentTo 'autosomal dominant limb-girdle muscular dystrophy type 1G'
http://purl.obolibrary.org/obo/GARD_0012532
http://purl.obolibrary.org/obo/GARD_0012532 EquivalentTo 'autosomal dominant limb-girdle muscular dystrophy type 1H'
http://purl.obolibrary.org/obo/GARD_0012538
http://purl.obolibrary.org/obo/GARD_0012538 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2M'
http://purl.obolibrary.org/obo/GARD_0012535
http://purl.obolibrary.org/obo/GARD_0012535 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2K'
http://purl.obolibrary.org/obo/GARD_0012536
http://purl.obolibrary.org/obo/GARD_0012536 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2L'
http://purl.obolibrary.org/obo/GARD_0012551
http://purl.obolibrary.org/obo/GARD_0012551 EquivalentTo 'familial congenital mirror movements'
http://purl.obolibrary.org/obo/GARD_0012550
http://purl.obolibrary.org/obo/GARD_0012550 EquivalentTo 'isolated congenital adermatoglyphia'
http://purl.obolibrary.org/obo/GARD_0012544
http://purl.obolibrary.org/obo/GARD_0012544 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2T'
http://purl.obolibrary.org/obo/GARD_0012542
http://purl.obolibrary.org/obo/GARD_0012542 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2Q'
http://purl.obolibrary.org/obo/GARD_0012543
http://purl.obolibrary.org/obo/GARD_0012543 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2S'
http://purl.obolibrary.org/obo/GARD_0012562
http://purl.obolibrary.org/obo/GARD_0012562 EquivalentTo 'mucopolysaccharidosis type 4'
http://purl.obolibrary.org/obo/GARD_0012560
http://purl.obolibrary.org/obo/GARD_0012560 EquivalentTo 'Hurler-Scheie syndrome'
http://purl.obolibrary.org/obo/GARD_0012559
http://purl.obolibrary.org/obo/GARD_0012559 EquivalentTo 'Hurler syndrome'
http://purl.obolibrary.org/obo/GARD_0012558
http://purl.obolibrary.org/obo/GARD_0012558 EquivalentTo 'intellectual disability, autosomal dominant 5'
http://purl.obolibrary.org/obo/GARD_0012570
http://purl.obolibrary.org/obo/GARD_0012570 EquivalentTo 'neurodegeneration with brain iron accumulation 5'
http://purl.obolibrary.org/obo/GARD_0012571
http://purl.obolibrary.org/obo/GARD_0012571 EquivalentTo 'neurodegeneration with brain iron accumulation 6'
http://purl.obolibrary.org/obo/MESH_D020143
http://purl.obolibrary.org/obo/MESH_D020143 EquivalentTo 'GM2 gangliosidosis'
http://purl.obolibrary.org/obo/MESH_D020141
http://purl.obolibrary.org/obo/MESH_D020141 EquivalentTo 'vascular hemostatic disease'
http://purl.obolibrary.org/obo/GARD_0012567
http://purl.obolibrary.org/obo/GARD_0012567 EquivalentTo 'PLA2G6-associated neurodegeneration'
http://purl.obolibrary.org/obo/GARD_0012568
http://purl.obolibrary.org/obo/GARD_0012568 EquivalentTo 'autosomal recessive Parkinson disease 14'
http://purl.obolibrary.org/obo/GARD_0012569
http://purl.obolibrary.org/obo/GARD_0012569 EquivalentTo 'neurodegeneration with brain iron accumulation 4'
http://www.ebi.ac.uk/efo/EFO_1000500
'psammomatous meningioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000500
http://purl.obolibrary.org/obo/MESH_C564011
http://purl.obolibrary.org/obo/MESH_C564011 EquivalentTo 'pancreatic hypoplasia-diabetes-congenital heart disease syndrome'
http://purl.obolibrary.org/obo/NCIT_C2863
'agranulocytosis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C2863
http://www.ebi.ac.uk/efo/EFO_1000509
'retina neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000509
http://www.ebi.ac.uk/efo/EFO_1000522
'secretory meningioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000522
http://purl.obolibrary.org/obo/MESH_C564036
http://purl.obolibrary.org/obo/MESH_C564036 EquivalentTo 'MRX89'
http://purl.obolibrary.org/obo/NCIT_C40241
'cervix disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C40241
http://purl.obolibrary.org/obo/MESH_D019121
http://purl.obolibrary.org/obo/MESH_D019121 EquivalentTo 'burkholderia infectious disease'
http://www.ebi.ac.uk/efo/EFO_1000544
'spinal cord astrocytoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000544
http://www.ebi.ac.uk/efo/EFO_1000542
'solid pseudopapillary carcinoma of pancreas' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000542
http://www.ebi.ac.uk/efo/EFO_1000569
'testicular Leydig cell tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000569
http://www.ebi.ac.uk/efo/EFO_1000567
'testicular granulosa cell tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1000567
http://purl.obolibrary.org/obo/SCTID_709412006
'congenital disorder of glycosylation type 1C' EquivalentTo http://purl.obolibrary.org/obo/SCTID_709412006
http://purl.obolibrary.org/obo/UMLS_C1709838
http://purl.obolibrary.org/obo/SCTID_427213005
'autoimmune vasculitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_427213005
http://purl.obolibrary.org/obo/GARD_0012504
http://purl.obolibrary.org/obo/GARD_0012504 EquivalentTo 'Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome'
http://purl.obolibrary.org/obo/GARD_0012502
http://purl.obolibrary.org/obo/GARD_0012502 EquivalentTo 'male infertility due to globozoospermia'
http://purl.obolibrary.org/obo/GARD_0012503
http://purl.obolibrary.org/obo/GARD_0012503 EquivalentTo 'atypical Gaucher disease due to saposin C deficiency'
http://purl.obolibrary.org/obo/GARD_0012510
http://purl.obolibrary.org/obo/GARD_0012510 EquivalentTo 'gangliosidosis'
http://purl.obolibrary.org/obo/GARD_0012530
http://purl.obolibrary.org/obo/GARD_0012530 EquivalentTo 'autosomal dominant limb-girdle muscular dystrophy type 1F'
http://purl.obolibrary.org/obo/GARD_0012528
http://purl.obolibrary.org/obo/GARD_0012528 EquivalentTo 'autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)'
http://purl.obolibrary.org/obo/GARD_0012529
http://purl.obolibrary.org/obo/GARD_0012529 EquivalentTo 'autosomal dominant limb-girdle muscular dystrophy type 1E (DES)'
http://purl.obolibrary.org/obo/GARD_0012521
http://purl.obolibrary.org/obo/GARD_0012521 EquivalentTo 'IgG4-related disease'
http://purl.obolibrary.org/obo/GARD_0012526
http://purl.obolibrary.org/obo/GARD_0012526 EquivalentTo 'X-linked complicated corpus callosum dysgenesis'
http://purl.obolibrary.org/obo/GARD_0012527
http://purl.obolibrary.org/obo/GARD_0012527 EquivalentTo 'autosomal dominant limb-girdle muscular dystrophy type 1C'
http://purl.obolibrary.org/obo/GARD_0012524
http://purl.obolibrary.org/obo/GARD_0012524 EquivalentTo 'L1 syndrome'
http://purl.obolibrary.org/obo/GARD_0012525
http://purl.obolibrary.org/obo/GARD_0012525 EquivalentTo 'X-linked complicated spastic paraplegia type 1'
http://www.orpha.net/ORDO/Orphanet_1889
'ectrodactyly-cleft palate syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_1889
http://purl.obolibrary.org/obo/SCTID_3987009
'tracheal agenesis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_3987009
http://purl.obolibrary.org/obo/MESH_D010257
http://purl.obolibrary.org/obo/MESH_D010257 EquivalentTo 'paraneoplastic syndrome'
http://purl.obolibrary.org/obo/MESH_D010253
http://purl.obolibrary.org/obo/MESH_D010253 EquivalentTo 'respirovirus infectious disease'
http://purl.obolibrary.org/obo/MONDO_0041959
fibrosis of bile duct
'fibrosis of bile duct' SubClassOf 'bile duct disease'
'fibrosis of bile duct' EquivalentTo http://purl.obolibrary.org/obo/SCTID_48124008
http://purl.obolibrary.org/obo/SCTID_441574008
'atherosclerosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_441574008
http://purl.obolibrary.org/obo/MONDO_0041996
thallium poisoning
'thallium poisoning' SubClassOf 'heavy metal poisoning'
'thallium poisoning' EquivalentTo http://purl.obolibrary.org/obo/SCTID_51040009
http://purl.obolibrary.org/obo/GARD_0007079
http://purl.obolibrary.org/obo/GARD_0007079 EquivalentTo 'multiple system atrophy'
http://purl.obolibrary.org/obo/GARD_0007074
http://purl.obolibrary.org/obo/GARD_0007074 EquivalentTo 'Sanfilippo syndrome type D'
http://purl.obolibrary.org/obo/GARD_0007072
http://purl.obolibrary.org/obo/GARD_0007072 EquivalentTo 'Sanfilippo syndrome type B'
http://purl.obolibrary.org/obo/GARD_0007073
http://purl.obolibrary.org/obo/GARD_0007073 EquivalentTo 'Sanfilippo syndrome type C'
http://purl.obolibrary.org/obo/GARD_0007071
http://purl.obolibrary.org/obo/GARD_0007071 EquivalentTo 'Sanfilippo syndrome type A'
http://purl.obolibrary.org/obo/MESH_D010201
http://purl.obolibrary.org/obo/MESH_D010201 EquivalentTo 'nodular non-suppurative panniculitis'
http://purl.obolibrary.org/obo/GARD_0007096
http://purl.obolibrary.org/obo/GARD_0007096 EquivalentTo 'mucopolysaccharidosis type 7'
http://purl.obolibrary.org/obo/GARD_0007095
http://purl.obolibrary.org/obo/GARD_0007095 EquivalentTo 'mucopolysaccharidosis type 6'
http://purl.obolibrary.org/obo/SCTID_26360005
'hereditary optic atrophy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_26360005
http://purl.obolibrary.org/obo/SCTID_719164000
'symmetrical thalamic calcifications' EquivalentTo http://purl.obolibrary.org/obo/SCTID_719164000
http://purl.obolibrary.org/obo/MESH_C538292
http://purl.obolibrary.org/obo/MESH_C538292 EquivalentTo 'mosaic trisomy 10'
http://purl.obolibrary.org/obo/MESH_C538240
http://purl.obolibrary.org/obo/MESH_C538240 EquivalentTo 'amelogenesis imperfecta type 1A'
http://purl.obolibrary.org/obo/MESH_C538230
http://purl.obolibrary.org/obo/MESH_C538230 EquivalentTo 'combined carcinoid and adenocarcinoma'
http://purl.obolibrary.org/obo/MESH_C538236
http://purl.obolibrary.org/obo/MESH_C538236 EquivalentTo 'congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency'
http://purl.obolibrary.org/obo/MESH_C538250
http://purl.obolibrary.org/obo/MESH_C538250 EquivalentTo 'amyopathic dermatomyositis'
http://purl.obolibrary.org/obo/GARD_0007039
http://purl.obolibrary.org/obo/GARD_0007039 EquivalentTo 'microvillus inclusion disease'
http://purl.obolibrary.org/obo/GARD_0007034
http://purl.obolibrary.org/obo/GARD_0007034 EquivalentTo 'monoclonal gammopathy of uncertain significance'
http://purl.obolibrary.org/obo/SCTID_30483005
'toxic amblyopia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_30483005
http://purl.obolibrary.org/obo/GARD_0007058
http://purl.obolibrary.org/obo/GARD_0007058 EquivalentTo 'localized scleroderma'
http://purl.obolibrary.org/obo/GARD_0007064
http://purl.obolibrary.org/obo/GARD_0007064 EquivalentTo 'Moyamoya disease'
http://purl.obolibrary.org/obo/GARD_0007008
http://purl.obolibrary.org/obo/GARD_0007008 EquivalentTo 'blepharospasm-oromandibular dystonia syndrome'
http://purl.obolibrary.org/obo/GARD_0007006
http://purl.obolibrary.org/obo/GARD_0007006 EquivalentTo 'Imerslund-Grasbeck syndrome'
http://purl.obolibrary.org/obo/GARD_0007004
http://purl.obolibrary.org/obo/GARD_0007004 EquivalentTo 'medullary thyroid gland carcinoma'
http://purl.obolibrary.org/obo/GARD_0007002
http://purl.obolibrary.org/obo/GARD_0007002 EquivalentTo 'autosomal dominant medullary cystic kidney disease without hyperuricemia'
http://purl.obolibrary.org/obo/GARD_0007009
http://purl.obolibrary.org/obo/GARD_0007009 EquivalentTo 'MELAS syndrome'
http://purl.obolibrary.org/obo/GARD_0007015
http://purl.obolibrary.org/obo/GARD_0007015 EquivalentTo 'meningioma (disease)'
http://purl.obolibrary.org/obo/MESH_D010182
http://purl.obolibrary.org/obo/MESH_D010182 EquivalentTo 'pancreas disease'
http://purl.obolibrary.org/obo/GARD_0007029
http://purl.obolibrary.org/obo/GARD_0007029 EquivalentTo 'Schmid metaphyseal chondrodysplasia'
http://purl.obolibrary.org/obo/GARD_0007026
http://purl.obolibrary.org/obo/GARD_0007026 EquivalentTo 'malignant mesothelioma (disease)'
http://purl.obolibrary.org/obo/NCIT_C54220
'odontogenic cyst' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C54220
http://purl.obolibrary.org/obo/MONDO_0041825
bacterial meningitis caused by gram-negative bacteria
'bacterial meningitis caused by gram-negative bacteria' SubClassOf 'gram-negative bacterial infections'
'bacterial meningitis caused by gram-negative bacteria' EquivalentTo 'bacterial meningitis' and 'gram-negative bacterial infections'
'bacterial meningitis caused by gram-negative bacteria' EquivalentTo http://purl.obolibrary.org/obo/SCTID_425887005
'bacterial meningitis caused by gram-negative bacteria' SubClassOf 'bacterial meningitis'
http://purl.obolibrary.org/obo/MESH_D009102
http://purl.obolibrary.org/obo/MESH_D009102 EquivalentTo 'multiple organ failure'
http://purl.obolibrary.org/obo/MONDO_0041879
staphylococcus aureus pneumonia
'staphylococcus aureus pneumonia' SubClassOf 'staphylococcal pneumonia'
'staphylococcus aureus pneumonia' EquivalentTo 'pneumonia' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_1280)
'staphylococcus aureus pneumonia' SubClassOf 'staphylococcus aureus infection'
'staphylococcus aureus pneumonia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_441658007
http://purl.obolibrary.org/obo/NCIT_C78245
'sudden cardiac arrest' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C78245
http://purl.obolibrary.org/obo/MONDO_0041850
pneumonia caused by gram negative bacteria
'pneumonia caused by gram negative bacteria' SubClassOf 'bacterial pneumonia'
'pneumonia caused by gram negative bacteria' SubClassOf 'gram-negative bacterial infections'
'pneumonia caused by gram negative bacteria' EquivalentTo http://purl.obolibrary.org/obo/SCTID_430395005
'pneumonia caused by gram negative bacteria' EquivalentTo 'bacterial pneumonia' and 'gram-negative bacterial infections'
http://purl.obolibrary.org/obo/SCTID_59548005
'congenital dyserythropoietic anemia type i' EquivalentTo http://purl.obolibrary.org/obo/SCTID_59548005
http://purl.obolibrary.org/obo/MESH_C563362
http://purl.obolibrary.org/obo/MESH_C563362 EquivalentTo 'autosomal dominant limb-girdle muscular dystrophy type 1C'
http://purl.obolibrary.org/obo/MESH_C563341
http://purl.obolibrary.org/obo/MESH_C563341 EquivalentTo 'microcephaly-cardiac defect-lung malsegmentation syndrome'
http://purl.obolibrary.org/obo/MESH_C538340
http://purl.obolibrary.org/obo/MESH_C538340 EquivalentTo 'dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia'
http://purl.obolibrary.org/obo/MESH_C538347
http://purl.obolibrary.org/obo/MESH_C538347 EquivalentTo 'negative rheumatoid factor polyarthritis'
http://purl.obolibrary.org/obo/MESH_C538334
http://purl.obolibrary.org/obo/MESH_C538334 EquivalentTo 'proteasome disability syndrome'
http://purl.obolibrary.org/obo/SCTID_302900006
'acute inflammation of lacrimal passage' EquivalentTo http://purl.obolibrary.org/obo/SCTID_302900006
http://purl.obolibrary.org/obo/MESH_C563311
http://purl.obolibrary.org/obo/MESH_C563311 EquivalentTo 'severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive'
http://purl.obolibrary.org/obo/MESH_C538374
http://purl.obolibrary.org/obo/MESH_C538374 EquivalentTo 'hyperinsulinism due to glucokinase deficiency'
http://purl.obolibrary.org/obo/SCTID_126550004
'maxillary neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_126550004
http://purl.obolibrary.org/obo/MESH_C538318
http://purl.obolibrary.org/obo/MESH_C538318 EquivalentTo 'partial duplication of the short arm of chromosome 2'
http://purl.obolibrary.org/obo/MESH_D010048
http://purl.obolibrary.org/obo/MESH_D010048 EquivalentTo 'ovarian cyst (disease)'
http://purl.obolibrary.org/obo/MESH_C538311
http://purl.obolibrary.org/obo/MESH_C538311 EquivalentTo 'partial duplication of the long arm of chromosome 19'
http://purl.obolibrary.org/obo/MESH_C538315
http://purl.obolibrary.org/obo/MESH_C538315 EquivalentTo 'partial deletion of the long arm of chromosome 2'
http://purl.obolibrary.org/obo/MESH_C538308
http://purl.obolibrary.org/obo/MESH_C538308 EquivalentTo 'partial trisomy of the long arm of chromosome 18'
http://purl.obolibrary.org/obo/MESH_C538300
http://purl.obolibrary.org/obo/MESH_C538300 EquivalentTo 'partial duplication of the long arm of chromosome 12'
http://purl.obolibrary.org/obo/MONDO_0041903
gonococcal infection of joint
'gonococcal infection of joint' SubClassOf 'gonorrhea'
'gonococcal infection of joint' SubClassOf 'bacterial arthritis'
'gonococcal infection of joint' EquivalentTo http://purl.obolibrary.org/obo/SCTID_44743006
'gonococcal infection of joint' EquivalentTo 'infectious disease' and ('disease HAS inflammation site' some http://purl.obolibrary.org/obo/UBERON_0000982) and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_485)
http://purl.obolibrary.org/obo/MONDO_0041751
multibacillary leprosy
'multibacillary leprosy' SubClassOf 'disease triggers' some http://purl.obolibrary.org/obo/GO_0042092
'multibacillary leprosy' SubClassOf 'leprosy'
'multibacillary leprosy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_416257001
http://purl.obolibrary.org/obo/MONDO_0041752
paucibacillary leprosy
'paucibacillary leprosy' SubClassOf 'leprosy'
'paucibacillary leprosy' SubClassOf 'disease triggers' some http://purl.obolibrary.org/obo/GO_0042088
'paucibacillary leprosy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_416483009
http://purl.obolibrary.org/obo/MONDO_0041755
twin reversal arterial perfusion syndrome
'twin reversal arterial perfusion syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_417006004
'twin reversal arterial perfusion syndrome' SubClassOf 'twin to twin transfusion syndrome'
http://purl.obolibrary.org/obo/NCIT_C126739
'autosomal recessive limb-girdle muscular dystrophy type 2I' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C126739
http://purl.obolibrary.org/obo/SCTID_49386006
'lingual-facial-buccal dyskinesia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_49386006
http://purl.obolibrary.org/obo/NCIT_C126741
'Fukuyama congenital muscular dystrophy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C126741
http://purl.obolibrary.org/obo/MESH_D009421
http://purl.obolibrary.org/obo/MESH_D009421 EquivalentTo 'central nervous system malformation'
http://purl.obolibrary.org/obo/MESH_C538085
http://purl.obolibrary.org/obo/MESH_C538085 EquivalentTo 'chromosome 1, uniparental disomy 1q12 q21'
http://purl.obolibrary.org/obo/MESH_D010437
http://purl.obolibrary.org/obo/MESH_D010437 EquivalentTo 'peptic ulcer disease'
http://purl.obolibrary.org/obo/MONDO_0041775
intraoperative floppy iris syndrome
'intraoperative floppy iris syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_418801006
'intraoperative floppy iris syndrome' SubClassOf 'iris disease'
http://purl.obolibrary.org/obo/MESH_C538057
http://purl.obolibrary.org/obo/MESH_C538057 EquivalentTo 'AGMX2'
http://purl.obolibrary.org/obo/SCTID_416257001
'multibacillary leprosy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_416257001
http://purl.obolibrary.org/obo/MESH_C538001
http://purl.obolibrary.org/obo/MESH_C538001 EquivalentTo 'dystonia 12'
http://purl.obolibrary.org/obo/SCTID_312005008
'penoscrotal transposition (disease)' EquivalentTo http://purl.obolibrary.org/obo/SCTID_312005008
http://purl.obolibrary.org/obo/SCTID_92151003
'intestinal benign neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_92151003
http://purl.obolibrary.org/obo/MESH_C538040
http://purl.obolibrary.org/obo/MESH_C538040 EquivalentTo 'partial duplication of the long arm of chromosome 15'
http://purl.obolibrary.org/obo/MESH_C538042
http://purl.obolibrary.org/obo/MESH_C538042 EquivalentTo 'partial trisomy of the long arm of chromosome 16'
http://purl.obolibrary.org/obo/MESH_C538044
http://purl.obolibrary.org/obo/MESH_C538044 EquivalentTo 'mosaic trisomy 17'
http://purl.obolibrary.org/obo/MESH_C538037
http://purl.obolibrary.org/obo/MESH_C538037 EquivalentTo 'mosaic trisomy 15'
http://purl.obolibrary.org/obo/MESH_C538025
http://purl.obolibrary.org/obo/MESH_C538025 EquivalentTo 'distal monosomy 9p'
http://purl.obolibrary.org/obo/SCTID_205497004
'osteogenesis imperfecta type 4' EquivalentTo http://purl.obolibrary.org/obo/SCTID_205497004
http://purl.obolibrary.org/obo/MESH_D058387
http://purl.obolibrary.org/obo/MESH_D058387 EquivalentTo 'candidemia'
http://purl.obolibrary.org/obo/MESH_D058365
http://purl.obolibrary.org/obo/MESH_D058365 EquivalentTo 'candidiasis, invasive'
http://purl.obolibrary.org/obo/MONDO_0041806
drug-resistant tuberculosis
'drug-resistant tuberculosis' SubClassOf 'tuberculosis'
'drug-resistant tuberculosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_423709000
http://purl.obolibrary.org/obo/SCTID_71941009
'voice disorders' EquivalentTo http://purl.obolibrary.org/obo/SCTID_71941009
http://purl.obolibrary.org/obo/SCTID_82275008
'eosinophilic granulomatosis with polyangiitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_82275008
http://purl.obolibrary.org/obo/MESH_D010391
http://purl.obolibrary.org/obo/MESH_D010391 EquivalentTo 'bullous pemphigoid'
http://purl.obolibrary.org/obo/NCIT_C126873
'ALG12-CDG' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C126873
http://purl.obolibrary.org/obo/GO_0004749
http://purl.obolibrary.org/obo/MESH_C563185
http://purl.obolibrary.org/obo/MESH_C563185 EquivalentTo 'HYPRPP'
http://purl.obolibrary.org/obo/MONDO_0041656
ST-elevation myocardial infarction
'ST-elevation myocardial infarction' SubClassOf 'acute myocardial infarction'
'ST-elevation myocardial infarction' EquivalentTo http://purl.obolibrary.org/obo/SCTID_401303003
http://purl.obolibrary.org/obo/MESH_C563135
http://purl.obolibrary.org/obo/MESH_C563135 EquivalentTo 'MRX2'
http://purl.obolibrary.org/obo/MESH_C563144
http://purl.obolibrary.org/obo/MESH_C563144 EquivalentTo 'MRX23'
http://purl.obolibrary.org/obo/MESH_C563142
http://purl.obolibrary.org/obo/MESH_C563142 EquivalentTo 'MRX20'
http://purl.obolibrary.org/obo/SCTID_193198003
'superimposed infection' EquivalentTo http://purl.obolibrary.org/obo/SCTID_193198003
http://purl.obolibrary.org/obo/SCTID_1674008
'Meesmann corneal dystrophy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_1674008
http://purl.obolibrary.org/obo/MESH_C538107
http://purl.obolibrary.org/obo/MESH_C538107 EquivalentTo 'palmer pagon syndrome'
http://purl.obolibrary.org/obo/GARD_0012915
http://purl.obolibrary.org/obo/GARD_0012915 EquivalentTo 'X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency'
http://purl.obolibrary.org/obo/GARD_0012913
http://purl.obolibrary.org/obo/GARD_0012913 EquivalentTo 'polyhydramnios, megalencephaly, and symptomatic epilepsy'
http://purl.obolibrary.org/obo/MESH_C538100
http://purl.obolibrary.org/obo/MESH_C538100 EquivalentTo 'pagon stephan syndrome'
http://purl.obolibrary.org/obo/GARD_0012911
http://purl.obolibrary.org/obo/GARD_0012911 EquivalentTo 'scleritis (disease)'
http://purl.obolibrary.org/obo/GARD_0012927
http://purl.obolibrary.org/obo/GARD_0012927 EquivalentTo 'sudden sensorineural hearing loss'
http://purl.obolibrary.org/obo/GARD_0012925
http://purl.obolibrary.org/obo/GARD_0012925 EquivalentTo 'familial multiple lipomatosis'
http://purl.obolibrary.org/obo/GARD_0012922
http://purl.obolibrary.org/obo/GARD_0012922 EquivalentTo 'generalized junctional epidermolysis bullosa non-Herlitz type'
http://purl.obolibrary.org/obo/MESH_C538161
http://purl.obolibrary.org/obo/MESH_C538161 EquivalentTo 'mcpherson robertson cammarano syndrome'
http://purl.obolibrary.org/obo/MESH_C538157
http://purl.obolibrary.org/obo/MESH_C538157 EquivalentTo 'Blau syndrome'
http://purl.obolibrary.org/obo/MESH_C538131
http://purl.obolibrary.org/obo/MESH_C538131 EquivalentTo 'lachiewicz sibley syndrome'
http://purl.obolibrary.org/obo/SCTID_719512003
'autosomal dominant Charcot-Marie-tooth disease type 2K' EquivalentTo http://purl.obolibrary.org/obo/SCTID_719512003
http://purl.obolibrary.org/obo/HP_0000953
http://purl.obolibrary.org/obo/GARD_0012977
http://purl.obolibrary.org/obo/GARD_0012977 EquivalentTo 'mendelian susceptibility to mycobacterial diseases'
http://purl.obolibrary.org/obo/GARD_0012978
http://purl.obolibrary.org/obo/GARD_0012978 EquivalentTo 'proximal myopathy with extrapyramidal signs'
http://purl.obolibrary.org/obo/SCTID_13555004
'ring chromosome 22' EquivalentTo http://purl.obolibrary.org/obo/SCTID_13555004
http://purl.obolibrary.org/obo/GARD_0012999
http://purl.obolibrary.org/obo/GARD_0012999 EquivalentTo 'cardiac anomalies-developmental delay-facial dysmorphism syndrome'
http://purl.obolibrary.org/obo/GARD_0012939
http://purl.obolibrary.org/obo/GARD_0012939 EquivalentTo 'juvenile spondyloarthropathy'
http://purl.obolibrary.org/obo/GARD_0012930
http://purl.obolibrary.org/obo/GARD_0012930 EquivalentTo 'isolated congenital anonychia'
http://purl.obolibrary.org/obo/GARD_0012931
http://purl.obolibrary.org/obo/GARD_0012931 EquivalentTo 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder'
http://purl.obolibrary.org/obo/MESH_D009298
http://purl.obolibrary.org/obo/MESH_D009298 EquivalentTo 'nasal cavity polyp'
http://purl.obolibrary.org/obo/SCTID_83470009
'Ehlers-Danlos syndrome type 1' EquivalentTo http://purl.obolibrary.org/obo/SCTID_83470009
http://purl.obolibrary.org/obo/GARD_0012943
http://purl.obolibrary.org/obo/GARD_0012943 EquivalentTo 'X-linked hypophosphatemic rickets'
http://purl.obolibrary.org/obo/GARD_0012963
http://purl.obolibrary.org/obo/GARD_0012963 EquivalentTo '3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome'
http://purl.obolibrary.org/obo/GARD_0012967
http://purl.obolibrary.org/obo/GARD_0012967 EquivalentTo 'reticulohistiocytic granuloma'
http://purl.obolibrary.org/obo/GARD_0012964
http://purl.obolibrary.org/obo/GARD_0012964 EquivalentTo '3-methylglutaconic aciduria type 5'
http://purl.obolibrary.org/obo/GARD_0012965
http://purl.obolibrary.org/obo/GARD_0012965 EquivalentTo 'mitochondrial complex V (ATP synthase) deficiency nuclear type 2'
http://purl.obolibrary.org/obo/NCIT_C34989
'rhinophyma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34989
http://purl.obolibrary.org/obo/SCTID_275336002
'distal arthrogryposis type 10' EquivalentTo http://purl.obolibrary.org/obo/SCTID_275336002
http://purl.obolibrary.org/obo/MESH_D000417
http://purl.obolibrary.org/obo/MESH_D000417 EquivalentTo 'albinism'
http://purl.obolibrary.org/obo/MONDO_0041526
pregnancy disorder with abortive outcome
'pregnancy disorder with abortive outcome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_363681007
'pregnancy disorder with abortive outcome' SubClassOf 'pregnancy disorder'
http://purl.obolibrary.org/obo/ICD10_O00.O08 EquivalentTo 'pregnancy disorder with abortive outcome'
http://purl.obolibrary.org/obo/MONDO_0041536
Far-East scarlet-like fever
'Far-East scarlet-like fever' EquivalentTo http://purl.obolibrary.org/obo/SCTID_47277009
'Far-East scarlet-like fever' SubClassOf 'Yersinia pseudotuberculosis infectious disease'
http://purl.obolibrary.org/obo/MONDO_0041535
mesenteric lymphadenitis due to Yersinia infection
'mesenteric lymphadenitis due to Yersinia infection' EquivalentTo 'mesenteric lymphadenitis' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_633)
'mesenteric lymphadenitis due to Yersinia infection' SubClassOf 'Yersinia pseudotuberculosis infectious disease'
'mesenteric lymphadenitis due to Yersinia infection' SubClassOf 'mesenteric lymphadenitis'
'mesenteric lymphadenitis due to Yersinia infection' EquivalentTo http://purl.obolibrary.org/obo/SCTID_13272007
http://purl.obolibrary.org/obo/GARD_0007501
http://purl.obolibrary.org/obo/GARD_0007501 EquivalentTo 'pulmonary arterial hypertension'
http://purl.obolibrary.org/obo/SCTID_126790004
'sublingual gland neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_126790004
http://purl.obolibrary.org/obo/MESH_C563686
http://purl.obolibrary.org/obo/MESH_C563686 EquivalentTo 'GBD3'
http://purl.obolibrary.org/obo/MESH_C563687
http://purl.obolibrary.org/obo/MESH_C563687 EquivalentTo 'GBD2'
http://purl.obolibrary.org/obo/GARD_0007437
http://purl.obolibrary.org/obo/GARD_0007437 EquivalentTo 'post-traumatic epilepsy'
http://purl.obolibrary.org/obo/GARD_0007433
http://purl.obolibrary.org/obo/GARD_0007433 EquivalentTo 'porphyria cutanea tarda'
http://purl.obolibrary.org/obo/MESH_C563697
http://purl.obolibrary.org/obo/MESH_C563697 EquivalentTo 'PFM3'
http://purl.obolibrary.org/obo/MESH_C563698
http://purl.obolibrary.org/obo/MESH_C563698 EquivalentTo 'mitochondrial DNA depletion syndrome, myopathic form'
http://purl.obolibrary.org/obo/GARD_0007439
http://purl.obolibrary.org/obo/GARD_0007439 EquivalentTo 'posterior urethral valve'
http://purl.obolibrary.org/obo/MESH_C548034
http://purl.obolibrary.org/obo/MESH_C548034 EquivalentTo 'orofaciodigital syndrome type 12'
http://purl.obolibrary.org/obo/MESH_C548035
http://purl.obolibrary.org/obo/MESH_C548035 EquivalentTo 'orofaciodigital syndrome type 13'
http://purl.obolibrary.org/obo/GARD_0007459
http://purl.obolibrary.org/obo/GARD_0007459 EquivalentTo 'primary biliary cholangitis'
http://purl.obolibrary.org/obo/SCTID_447781009
'peritoneal carcinoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_447781009
http://purl.obolibrary.org/obo/SCTID_31325007
'ring chromosome 21' EquivalentTo http://purl.obolibrary.org/obo/SCTID_31325007
http://purl.obolibrary.org/obo/GARD_0007465
http://purl.obolibrary.org/obo/GARD_0007465 EquivalentTo 'Prinzmetal angina'
http://purl.obolibrary.org/obo/MESH_C548085
http://purl.obolibrary.org/obo/MESH_C548085 EquivalentTo 'progressive transformation of germinal centers'
http://purl.obolibrary.org/obo/GARD_0007403
http://purl.obolibrary.org/obo/GARD_0007403 EquivalentTo 'placenta neoplasm'
http://purl.obolibrary.org/obo/GARD_0007404
http://purl.obolibrary.org/obo/GARD_0007404 EquivalentTo 'plasmacytoma'
http://purl.obolibrary.org/obo/GARD_0007402
http://purl.obolibrary.org/obo/GARD_0007402 EquivalentTo 'placenta disease'
http://purl.obolibrary.org/obo/GARD_0007413
http://purl.obolibrary.org/obo/GARD_0007413 EquivalentTo 'poliomyelitis'
http://purl.obolibrary.org/obo/GARD_0007411
http://purl.obolibrary.org/obo/GARD_0007411 EquivalentTo 'POEMS syndrome'
http://purl.obolibrary.org/obo/MESH_C563675
http://purl.obolibrary.org/obo/MESH_C563675 EquivalentTo 'OFC9'
http://purl.obolibrary.org/obo/GARD_0007425
http://purl.obolibrary.org/obo/GARD_0007425 EquivalentTo 'polymyositis'
http://purl.obolibrary.org/obo/SCTID_274134003
'leukoplakia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_274134003
http://purl.obolibrary.org/obo/GARD_0007422
http://purl.obolibrary.org/obo/GARD_0007422 EquivalentTo 'polycythemia vera'
http://purl.obolibrary.org/obo/MESH_C563670
http://purl.obolibrary.org/obo/MESH_C563670 EquivalentTo 'ANIB5'
http://purl.obolibrary.org/obo/MESH_C538613
http://purl.obolibrary.org/obo/MESH_C538613 EquivalentTo 'panhypopituitarism, X-linked'
http://purl.obolibrary.org/obo/MESH_C548009
http://purl.obolibrary.org/obo/MESH_C548009 EquivalentTo 'atrial septal defect, sinus venosus type'
http://purl.obolibrary.org/obo/MESH_C548006
http://purl.obolibrary.org/obo/MESH_C548006 EquivalentTo 'atrial septal defect, ostium primum type'
http://purl.obolibrary.org/obo/GARD_0007479
http://purl.obolibrary.org/obo/GARD_0007479 EquivalentTo 'prune belly syndome'
http://purl.obolibrary.org/obo/GARD_0007475
http://purl.obolibrary.org/obo/GARD_0007475 EquivalentTo 'Proteus syndrome'
http://purl.obolibrary.org/obo/GARD_0007473
http://purl.obolibrary.org/obo/GARD_0007473 EquivalentTo 'prolidase deficiency'
http://purl.obolibrary.org/obo/GARD_0007471
http://purl.obolibrary.org/obo/GARD_0007471 EquivalentTo 'progressive supranuclear palsy'
http://purl.obolibrary.org/obo/GARD_0007488
http://purl.obolibrary.org/obo/GARD_0007488 EquivalentTo 'pseudomyxoma peritonei'
http://purl.obolibrary.org/obo/GARD_0007486
http://purl.obolibrary.org/obo/GARD_0007486 EquivalentTo 'Albright hereditary osteodystrophy'
http://purl.obolibrary.org/obo/GARD_0007482
http://purl.obolibrary.org/obo/GARD_0007482 EquivalentTo 'butyrylcholinesterase deficiency'
http://purl.obolibrary.org/obo/NCIT_C7208
'anaplastic small cell lymphoma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C7208
http://purl.obolibrary.org/obo/NCIT_C7230
'primary cutaneous marginal zone B-cell lymphoma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C7230
http://purl.obolibrary.org/obo/SCTID_46935006
'Adams-Stokes syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_46935006
http://purl.obolibrary.org/obo/SCTID_128213006
'neuromuscular junction disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_128213006
http://purl.obolibrary.org/obo/SCTID_47481007
'achlorhydria' EquivalentTo http://purl.obolibrary.org/obo/SCTID_47481007
http://purl.obolibrary.org/obo/MONDO_0041403
toxic amblyopia
'toxic amblyopia' SubClassOf 'realized in response to stimulus' some http://purl.obolibrary.org/obo/ECTO_0000231
'toxic amblyopia' EquivalentTo 'amblyopia (disease)' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/ECTO_0000231)
'toxic amblyopia' SubClassOf 'suppression amblyopia'
'toxic amblyopia' SubClassOf 'disease HAS basis in dysfunction of' some http://purl.obolibrary.org/obo/UBERON_0000941
'toxic amblyopia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_30483005
http://purl.obolibrary.org/obo/MESH_D014947
http://purl.obolibrary.org/obo/MESH_D014947 EquivalentTo 'injury'
http://purl.obolibrary.org/obo/MESH_D000309
http://purl.obolibrary.org/obo/MESH_D000309 EquivalentTo 'adrenocortical insufficiency'
http://purl.obolibrary.org/obo/MONDO_0041440
functional visual loss
'functional visual loss' SubClassOf 'blindness (disorder)'
'functional visual loss' EquivalentTo http://purl.obolibrary.org/obo/SCTID_313165001
http://purl.obolibrary.org/obo/SCTID_420835009
'corneal intraepithelial neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_420835009
http://purl.obolibrary.org/obo/MONDO_0041448
metastasis from malignant tumor of colon
'metastasis from malignant tumor of colon' EquivalentTo http://purl.obolibrary.org/obo/SCTID_314998002
'metastasis from malignant tumor of colon' SubClassOf 'metastatic malignant neoplasm'
'metastasis from malignant tumor of colon' SubClassOf 'malignant colon neoplasm'
'metastasis from malignant tumor of colon' EquivalentTo 'malignant colon neoplasm' and ('has modifier' some http://purl.obolibrary.org/obo/PATO_0002098)
http://purl.obolibrary.org/obo/MONDO_0041447
metastatic malignant neoplasm in the colon
'metastatic malignant neoplasm in the colon' SubClassOf 'metastatic malignant neoplasm'
'metastatic malignant neoplasm in the colon' EquivalentTo 'metastatic malignant neoplasm' and ('disease arises from feature' some 'malignant colon neoplasm')
'metastatic malignant neoplasm in the colon' SubClassOf 'disease arises from feature' some 'malignant colon neoplasm'
'metastatic malignant neoplasm in the colon' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C8411
http://purl.obolibrary.org/obo/GO_0004509
http://purl.obolibrary.org/obo/SCTID_448804008
'May-Thurner syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_448804008
http://purl.obolibrary.org/obo/SCTID_237997005
'very long chain acyl-CoA dehydrogenase deficiency' EquivalentTo http://purl.obolibrary.org/obo/SCTID_237997005
http://purl.obolibrary.org/obo/SCTID_91953003
'Machado-Joseph disease type 1' EquivalentTo http://purl.obolibrary.org/obo/SCTID_91953003
http://purl.obolibrary.org/obo/GARD_0007312
http://purl.obolibrary.org/obo/GARD_0007312 EquivalentTo 'PANDAS'
http://purl.obolibrary.org/obo/GO_0004457
http://purl.obolibrary.org/obo/GARD_0007326
http://purl.obolibrary.org/obo/GARD_0007326 EquivalentTo 'paraneoplastic neurologic syndrome'
http://purl.obolibrary.org/obo/GARD_0007325
http://purl.obolibrary.org/obo/GARD_0007325 EquivalentTo 'paramyotonia congenita of von Eulenburg'
http://purl.obolibrary.org/obo/GARD_0007322
http://purl.obolibrary.org/obo/GARD_0007322 EquivalentTo 'papular urticaria'
http://purl.obolibrary.org/obo/GARD_0007321
http://purl.obolibrary.org/obo/GARD_0007321 EquivalentTo 'localized lichen myxedematosus'
http://purl.obolibrary.org/obo/GARD_0007329
http://purl.obolibrary.org/obo/GARD_0007329 EquivalentTo 'parathyroid gland carcinoma'
http://purl.obolibrary.org/obo/GARD_0007338
http://purl.obolibrary.org/obo/GARD_0007338 EquivalentTo 'facial hemiatrophy'
http://purl.obolibrary.org/obo/GARD_0007335
http://purl.obolibrary.org/obo/GARD_0007335 EquivalentTo 'paroxysmal cold hemoglobinuria'
http://purl.obolibrary.org/obo/GARD_0007339
http://purl.obolibrary.org/obo/GARD_0007339 EquivalentTo 'pars planitis'
http://purl.obolibrary.org/obo/NCIT_C7150
'indolent myeloma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C7150
http://purl.obolibrary.org/obo/NCIT_C112836
'thyroid crisis (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C112836
http://purl.obolibrary.org/obo/GARD_0007347
http://purl.obolibrary.org/obo/GARD_0007347 EquivalentTo 'peeling skin syndrome'
http://purl.obolibrary.org/obo/GO_0004485
http://purl.obolibrary.org/obo/GARD_0007341
http://purl.obolibrary.org/obo/GARD_0007341 EquivalentTo 'trisomy 13'
http://www.orpha.net/ORDO/Orphanet_122057
'gonorrhea' EquivalentTo http://www.orpha.net/ORDO/Orphanet_122057
http://purl.obolibrary.org/obo/MESH_C563760
http://purl.obolibrary.org/obo/MESH_C563760 EquivalentTo 'MYP8'
http://purl.obolibrary.org/obo/MESH_C563761
http://purl.obolibrary.org/obo/MESH_C563761 EquivalentTo 'MYP7'
http://purl.obolibrary.org/obo/NCIT_C7175
'acute myeloid leukemia with recurrent genetic anomaly' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C7175
http://purl.obolibrary.org/obo/MESH_C563774
http://purl.obolibrary.org/obo/MESH_C563774 EquivalentTo 'foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome'
http://purl.obolibrary.org/obo/SCTID_186867005
'latent early syphilis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_186867005
http://purl.obolibrary.org/obo/MESH_C563786
http://purl.obolibrary.org/obo/MESH_C563786 EquivalentTo 'familial hyperthyroidism due to mutations in TSH receptor'
http://purl.obolibrary.org/obo/MESH_C563792
http://purl.obolibrary.org/obo/MESH_C563792 EquivalentTo 'ANIB3'
http://purl.obolibrary.org/obo/GARD_0007303
http://purl.obolibrary.org/obo/GARD_0007303 EquivalentTo 'Paget disease of the nipple'
http://purl.obolibrary.org/obo/GARD_0007300
http://purl.obolibrary.org/obo/GARD_0007300 EquivalentTo 'lissencephaly (disease)'
http://purl.obolibrary.org/obo/GARD_0007397
http://purl.obolibrary.org/obo/GARD_0007397 EquivalentTo 'pinta disease'
http://purl.obolibrary.org/obo/SCTID_59451000
'cutis laxa, autosomal recessive, type 1A' EquivalentTo http://purl.obolibrary.org/obo/SCTID_59451000
http://purl.obolibrary.org/obo/GARD_0007392
http://purl.obolibrary.org/obo/GARD_0007392 EquivalentTo 'Pick disease'
http://purl.obolibrary.org/obo/MESH_C563756
http://purl.obolibrary.org/obo/MESH_C563756 EquivalentTo 'STUT2'
http://purl.obolibrary.org/obo/MESH_C563758
http://purl.obolibrary.org/obo/MESH_C563758 EquivalentTo 'MYP10'
http://purl.obolibrary.org/obo/MESH_C563759
http://purl.obolibrary.org/obo/MESH_C563759 EquivalentTo 'MYP9'
http://purl.obolibrary.org/obo/MESH_C563752
http://purl.obolibrary.org/obo/MESH_C563752 EquivalentTo 'KTCN4'
http://purl.obolibrary.org/obo/MESH_C563754
http://purl.obolibrary.org/obo/MESH_C563754 EquivalentTo 'LFS3'
http://www.ebi.ac.uk/efo/EFO_0005558
'hemolytic anemia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0005558
http://purl.obolibrary.org/obo/MESH_D014895
http://purl.obolibrary.org/obo/MESH_D014895 EquivalentTo 'Weil's disease'
http://purl.obolibrary.org/obo/GARD_0007355
http://purl.obolibrary.org/obo/GARD_0007355 EquivalentTo 'pemphigus vulgaris'
http://purl.obolibrary.org/obo/GARD_0007353
http://purl.obolibrary.org/obo/GARD_0007353 EquivalentTo 'pemphigus and fogo selvagem'
http://purl.obolibrary.org/obo/MESH_D000257
http://purl.obolibrary.org/obo/MESH_D000257 EquivalentTo 'adenoviridae infectious disease'
http://www.ebi.ac.uk/efo/EFO_0005578
'pituitary cancer' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0005578
http://purl.obolibrary.org/obo/GARD_0007360
http://purl.obolibrary.org/obo/GARD_0007360 EquivalentTo 'polyarteritis nodosa'
http://purl.obolibrary.org/obo/MESH_C563702
http://purl.obolibrary.org/obo/MESH_C563702 EquivalentTo 'SPOAN syndrome'
http://purl.obolibrary.org/obo/GARD_0007377
http://purl.obolibrary.org/obo/GARD_0007377 EquivalentTo 'Peters anomaly (disease)'
http://purl.obolibrary.org/obo/GARD_0007371
http://purl.obolibrary.org/obo/GARD_0007371 EquivalentTo 'heterotopia, periventricular, X-linked dominant'
http://purl.obolibrary.org/obo/MESH_C563717
http://purl.obolibrary.org/obo/MESH_C563717 EquivalentTo 'PSNP2'
http://purl.obolibrary.org/obo/GARD_0007389
http://purl.obolibrary.org/obo/GARD_0007389 EquivalentTo 'glycogen storage disease due to phosphoglycerate kinase 1 deficiency'
http://purl.obolibrary.org/obo/GARD_0007387
http://purl.obolibrary.org/obo/GARD_0007387 EquivalentTo 'Roberts syndrome'
http://purl.obolibrary.org/obo/GARD_0007385
http://purl.obolibrary.org/obo/GARD_0007385 EquivalentTo 'sporadic pheochromocytoma/secreting paraganglioma'
http://purl.obolibrary.org/obo/GARD_0007383
http://purl.obolibrary.org/obo/GARD_0007383 EquivalentTo 'phenylketonuria'
http://purl.obolibrary.org/obo/MESH_D010014
http://purl.obolibrary.org/obo/MESH_D010014 EquivalentTo 'lytic metastatic bone lesion'
http://purl.obolibrary.org/obo/MESH_D009011
http://purl.obolibrary.org/obo/MESH_D009011 EquivalentTo 'Monteggia's fracture'
http://purl.obolibrary.org/obo/MESH_D010002
http://purl.obolibrary.org/obo/MESH_D010002 EquivalentTo 'osteitis fibrosa'
http://purl.obolibrary.org/obo/MESH_D010031
http://purl.obolibrary.org/obo/MESH_D010031 EquivalentTo 'ear infection'
http://purl.obolibrary.org/obo/MESH_D010025
http://purl.obolibrary.org/obo/MESH_D010025 EquivalentTo 'osteoradionecrosis'
http://purl.obolibrary.org/obo/SCTID_254866007
'ovarian sertoli-Leydig cell tumor' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254866007
http://purl.obolibrary.org/obo/SCTID_239124001
'woolly hair nevus' EquivalentTo http://purl.obolibrary.org/obo/SCTID_239124001
http://purl.obolibrary.org/obo/MONDO_0041366
acute epiglottitis
'acute epiglottitis' SubClassOf 'acute laryngitis'
'acute epiglottitis' EquivalentTo 'epiglottitis' and ('has modifier' some http://purl.obolibrary.org/obo/PATO_0000389)
'acute epiglottitis' SubClassOf 'epiglottitis'
'acute epiglottitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_29608009
http://www.orpha.net/ORDO/Orphanet_28455
'pancreatic beta cell agenesis with neonatal diabetes mellitus' EquivalentTo http://www.orpha.net/ORDO/Orphanet_28455
http://purl.obolibrary.org/obo/MESH_C563448
http://purl.obolibrary.org/obo/MESH_C563448 EquivalentTo 'OFC3'
http://purl.obolibrary.org/obo/MESH_C563440
http://purl.obolibrary.org/obo/MESH_C563440 EquivalentTo 'T-B+ severe combined immunodeficiency due to JAK3 deficiency'
http://purl.obolibrary.org/obo/GARD_0007206
http://purl.obolibrary.org/obo/GARD_0007206 EquivalentTo 'Niemann-Pick disease type A'
http://purl.obolibrary.org/obo/GARD_0007201
http://purl.obolibrary.org/obo/GARD_0007201 EquivalentTo 'Nezelof syndrome'
http://purl.obolibrary.org/obo/MESH_C563462
http://purl.obolibrary.org/obo/MESH_C563462 EquivalentTo 'carnitine palmitoyl transferase II deficiency, severe infantile form'
http://purl.obolibrary.org/obo/MESH_C563463
http://purl.obolibrary.org/obo/MESH_C563463 EquivalentTo 'carnitine palmitoyl transferase II deficiency, neonatal form'
http://purl.obolibrary.org/obo/SCTID_626004
'ectopic ACTH secretion syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_626004
http://purl.obolibrary.org/obo/GARD_0007207
http://purl.obolibrary.org/obo/GARD_0007207 EquivalentTo 'Niemann-Pick disease, type C1'
http://purl.obolibrary.org/obo/GO_0004351
http://purl.obolibrary.org/obo/MESH_C563461
http://purl.obolibrary.org/obo/MESH_C563461 EquivalentTo 'carnitine palmitoyl transferase II deficiency, myopathic form'
http://www.ebi.ac.uk/efo/EFO_0005834
'osteopathia striata with cranial sclerosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0005834
http://purl.obolibrary.org/obo/GARD_0007226
http://purl.obolibrary.org/obo/GARD_0007226 EquivalentTo 'Lesch-Nyhan syndrome'
http://purl.obolibrary.org/obo/GARD_0007220
http://purl.obolibrary.org/obo/GARD_0007220 EquivalentTo 'hereditary lymphedema'
http://purl.obolibrary.org/obo/MESH_C563408
http://purl.obolibrary.org/obo/MESH_C563408 EquivalentTo 'KRT14-related epidermolysis bullosa simplex'
http://purl.obolibrary.org/obo/MESH_C563439
http://purl.obolibrary.org/obo/MESH_C563439 EquivalentTo 'nocturnal enuresis, 2'
http://www.ebi.ac.uk/efo/EFO_0005878
'vitamin deficiency disorder' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0005878
http://purl.obolibrary.org/obo/GARD_0007272
http://purl.obolibrary.org/obo/GARD_0007272 EquivalentTo 'gyrate atrophy'
http://purl.obolibrary.org/obo/GARD_0007285
http://purl.obolibrary.org/obo/GARD_0007285 EquivalentTo 'osteomalacia (disease)'
http://purl.obolibrary.org/obo/GARD_0007286
http://purl.obolibrary.org/obo/GARD_0007286 EquivalentTo 'osteomyelitis (disease)'
http://purl.obolibrary.org/obo/GARD_0007284
http://purl.obolibrary.org/obo/GARD_0007284 EquivalentTo 'bone osteosarcoma'
http://purl.obolibrary.org/obo/GARD_0007299
http://purl.obolibrary.org/obo/GARD_0007299 EquivalentTo 'pachydermoperiostosis'
http://purl.obolibrary.org/obo/GARD_0007296
http://purl.obolibrary.org/obo/GARD_0007296 EquivalentTo 'malignant mixed mullerian tumor of the ovary'
http://purl.obolibrary.org/obo/GARD_0007295
http://purl.obolibrary.org/obo/GARD_0007295 EquivalentTo 'ovarian cancer'
http://purl.obolibrary.org/obo/GARD_0007293
http://purl.obolibrary.org/obo/GARD_0007293 EquivalentTo 'otopalatodigital syndrome'
http://purl.obolibrary.org/obo/GARD_0007236
http://purl.obolibrary.org/obo/GARD_0007236 EquivalentTo 'ocular melanoma'
http://purl.obolibrary.org/obo/GARD_0007231
http://purl.obolibrary.org/obo/GARD_0007231 EquivalentTo 'ochronosis disorder'
http://purl.obolibrary.org/obo/GARD_0007247
http://purl.obolibrary.org/obo/GARD_0007247 EquivalentTo 'odontoma'
http://purl.obolibrary.org/obo/GARD_0007250
http://purl.obolibrary.org/obo/GARD_0007250 EquivalentTo 'olivopontocerebellar atrophy'
http://purl.obolibrary.org/obo/GARD_0007269
http://purl.obolibrary.org/obo/GARD_0007269 EquivalentTo 'carbamoyl phosphate synthetase I deficiency disease'
http://purl.obolibrary.org/obo/SCTID_238772004
'livedo reticularis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_238772004
http://purl.obolibrary.org/obo/GARD_0007260
http://purl.obolibrary.org/obo/GARD_0007260 EquivalentTo 'oral mucosa leukoplakia'
http://purl.obolibrary.org/obo/NCIT_C122082
'collagenous gastritis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C122082
http://purl.obolibrary.org/obo/SCTID_23513009
'Herpesviridae infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_23513009
http://purl.obolibrary.org/obo/GARD_0007190
http://purl.obolibrary.org/obo/GARD_0007190 EquivalentTo 'Alzheimer disease without neurofibrillary tangles'
http://purl.obolibrary.org/obo/GARD_0007199
http://purl.obolibrary.org/obo/GARD_0007199 EquivalentTo 'toxic encephalopathy'
http://purl.obolibrary.org/obo/GARD_0007193
http://purl.obolibrary.org/obo/GARD_0007193 EquivalentTo 'neurofibromatosis type 2'
http://purl.obolibrary.org/obo/SCTID_86997002
'ring chromosome 10' EquivalentTo http://purl.obolibrary.org/obo/SCTID_86997002
http://purl.obolibrary.org/obo/MESH_C563561
http://purl.obolibrary.org/obo/MESH_C563561 EquivalentTo 'neuronopathy, distal hereditary motor, type 2A'
http://purl.obolibrary.org/obo/SCTID_72284000
'serum sickness' EquivalentTo http://purl.obolibrary.org/obo/SCTID_72284000
http://purl.obolibrary.org/obo/MESH_C563562
http://purl.obolibrary.org/obo/MESH_C563562 EquivalentTo 'neuronopathy, distal hereditary motor, type 7A'
http://purl.obolibrary.org/obo/MESH_C563572
http://purl.obolibrary.org/obo/MESH_C563572 EquivalentTo 'cardiospondylocarpofacial syndrome'
http://purl.obolibrary.org/obo/MONDO_0041284
primary motor cortex epilepsy
'primary motor cortex epilepsy' EquivalentTo 'epilepsy' and ('disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0001384)
'primary motor cortex epilepsy' SubClassOf 'disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0001384
'primary motor cortex epilepsy' SubClassOf 'frontal lobe epilepsy'
'primary motor cortex epilepsy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_267592003
http://purl.obolibrary.org/obo/UBERON_0006134
http://purl.obolibrary.org/obo/UBERON_0006134 SubClassOf http://purl.obolibrary.org/obo/CARO_0000003
http://purl.obolibrary.org/obo/MONDO_0041259
diphtheritic myocarditis
'diphtheritic myocarditis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_26117009
'diphtheritic myocarditis' SubClassOf 'bacterial myocarditis'
'diphtheritic myocarditis' EquivalentTo 'myocarditis' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_1717)
'diphtheritic myocarditis' SubClassOf 'diphtheria'
http://purl.obolibrary.org/obo/MONDO_0041261
disorder of acid-base balance
'disorder of acid-base balance' SubClassOf 'metabolic disease'
'disorder of acid-base balance' EquivalentTo http://purl.obolibrary.org/obo/SCTID_26436007
'disorder of acid-base balance' EquivalentTo 'metabolic disease' and ('disease disrupts' some http://purl.obolibrary.org/obo/GO_0006885)
'disorder of acid-base balance' SubClassOf 'disease disrupts' some http://purl.obolibrary.org/obo/GO_0006885
http://www.ebi.ac.uk/efo/EFO_0005716
'retinal cancer' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0005716
http://www.ebi.ac.uk/efo/EFO_0005746
'tumor grade 2, general grading system' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0005746
http://purl.obolibrary.org/obo/MESH_C563541
http://purl.obolibrary.org/obo/MESH_C563541 EquivalentTo 'MYP2'
http://www.orpha.net/ORDO/Orphanet_122270
'febrile seizures, familial, 4' EquivalentTo http://www.orpha.net/ORDO/Orphanet_122270
http://purl.obolibrary.org/obo/MONDO_0041295
acute papillary necrosis
'acute papillary necrosis' SubClassOf 'kidney papillary necrosis'
'acute papillary necrosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/PATO_0000389
'acute papillary necrosis' EquivalentTo 'kidney papillary necrosis' and ('has modifier' some http://purl.obolibrary.org/obo/PATO_0000389)
'acute papillary necrosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_270494003
http://www.ebi.ac.uk/efo/EFO_0005757
'vaginitis (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0005757
http://purl.obolibrary.org/obo/GARD_0007157
http://purl.obolibrary.org/obo/GARD_0007157 EquivalentTo 'myxoid liposarcoma'
http://purl.obolibrary.org/obo/GARD_0007158
http://purl.obolibrary.org/obo/GARD_0007158 EquivalentTo 'hyperammonemia due to N-acetylglutamate synthase deficiency'
http://purl.obolibrary.org/obo/SCTID_85039006
'postpartum amenorrhea-galactorrhea syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_85039006
http://purl.obolibrary.org/obo/SCTID_254901000
'prostate intraepithelial neoplasia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254901000
http://purl.obolibrary.org/obo/GARD_0007166
http://purl.obolibrary.org/obo/GARD_0007166 EquivalentTo 'nevoid basal cell carcinoma syndrome'
http://purl.obolibrary.org/obo/GARD_0007163
http://purl.obolibrary.org/obo/GARD_0007163 EquivalentTo 'nasopharyngeal carcinoma, susceptibility to, 2'
http://purl.obolibrary.org/obo/GARD_0007178
http://purl.obolibrary.org/obo/GARD_0007178 EquivalentTo 'nephrogenic diabetes insipidus'
http://purl.obolibrary.org/obo/GARD_0007186
http://purl.obolibrary.org/obo/GARD_0007186 EquivalentTo 'neurocutaneous melanocytosis'
http://purl.obolibrary.org/obo/GARD_0007183
http://purl.obolibrary.org/obo/GARD_0007183 EquivalentTo 'sialidosis type 2'
http://purl.obolibrary.org/obo/GARD_0007108
http://purl.obolibrary.org/obo/GARD_0007108 EquivalentTo 'plasma cell myeloma'
http://purl.obolibrary.org/obo/GARD_0007125
http://purl.obolibrary.org/obo/GARD_0007125 EquivalentTo 'Mycoplasma pneumoniae pneumonia'
http://purl.obolibrary.org/obo/GARD_0007139
http://purl.obolibrary.org/obo/GARD_0007139 EquivalentTo 'myoclonus-dystonia syndrome'
http://purl.obolibrary.org/obo/GARD_0007132
http://purl.obolibrary.org/obo/GARD_0007132 EquivalentTo 'myelodysplastic syndrome'
http://purl.obolibrary.org/obo/GARD_0007148
http://purl.obolibrary.org/obo/GARD_0007148 EquivalentTo 'hyaline body myopathy'
http://purl.obolibrary.org/obo/GARD_0007144
http://purl.obolibrary.org/obo/GARD_0007144 EquivalentTo 'MERRF syndrome'
http://purl.obolibrary.org/obo/GARD_0007142
http://purl.obolibrary.org/obo/GARD_0007142 EquivalentTo 'early myoclonic encephalopathy'
http://purl.obolibrary.org/obo/GARD_0007140
http://purl.obolibrary.org/obo/GARD_0007140 EquivalentTo 'progressive myoclonic epilepsy'
http://purl.obolibrary.org/obo/NCIT_C34509
'viral conjunctivitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34509
http://purl.obolibrary.org/obo/NCIT_C34522
'multi-infarct dementia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34522
http://purl.obolibrary.org/obo/NCIT_C34558
'amebic dysentery' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34558
http://purl.obolibrary.org/obo/SCTID_254856004
'undifferentiated ovarian carcinoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254856004
http://purl.obolibrary.org/obo/GARD_0007904
http://purl.obolibrary.org/obo/GARD_0007904 EquivalentTo 'recessive X-linked ichthyosis'
http://purl.obolibrary.org/obo/GARD_0007900
http://purl.obolibrary.org/obo/GARD_0007900 EquivalentTo 'Wyburn-Mason syndrome'
http://purl.obolibrary.org/obo/GARD_0007917
http://purl.obolibrary.org/obo/GARD_0007917 EquivalentTo 'Zellweger syndrome'
http://purl.obolibrary.org/obo/GARD_0007918
http://purl.obolibrary.org/obo/GARD_0007918 EquivalentTo 'Zollinger-Ellison syndrome'
http://purl.obolibrary.org/obo/NCIT_C122526
'Mycoplasma pneumoniae pneumonia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C122526
http://purl.obolibrary.org/obo/CHEBI_50818
http://purl.obolibrary.org/obo/GARD_0007876
http://purl.obolibrary.org/obo/GARD_0007876 EquivalentTo 'autoimmune hemolytic anemia, warm type'
http://purl.obolibrary.org/obo/GARD_0007877
http://purl.obolibrary.org/obo/GARD_0007877 EquivalentTo 'gastric antral vascular ectasia'
http://purl.obolibrary.org/obo/GARD_0007875
http://purl.obolibrary.org/obo/GARD_0007875 EquivalentTo 'Wallerian degeneration'
http://purl.obolibrary.org/obo/GARD_0007872
http://purl.obolibrary.org/obo/GARD_0007872 EquivalentTo 'Waldenstrom macroglobulinemia'
http://purl.obolibrary.org/obo/GARD_0007871
http://purl.obolibrary.org/obo/GARD_0007871 EquivalentTo 'Wagner disease'
http://purl.obolibrary.org/obo/GARD_0007878
http://purl.obolibrary.org/obo/GARD_0007878 EquivalentTo 'Weaver syndrome'
http://purl.obolibrary.org/obo/GARD_0007879
http://purl.obolibrary.org/obo/GARD_0007879 EquivalentTo 'nodular non-suppurative panniculitis'
http://purl.obolibrary.org/obo/GARD_0007887
http://purl.obolibrary.org/obo/GARD_0007887 EquivalentTo 'West syndrome'
http://purl.obolibrary.org/obo/GARD_0007885
http://purl.obolibrary.org/obo/GARD_0007885 EquivalentTo 'Werner syndrome'
http://purl.obolibrary.org/obo/GARD_0007883
http://purl.obolibrary.org/obo/GARD_0007883 EquivalentTo 'Werdnig-Hoffmann disease'
http://purl.obolibrary.org/obo/GARD_0007880
http://purl.obolibrary.org/obo/GARD_0007880 EquivalentTo 'granulomatosis with polyangiitis'
http://purl.obolibrary.org/obo/GARD_0007889
http://purl.obolibrary.org/obo/GARD_0007889 EquivalentTo 'Whipple disease'
http://purl.obolibrary.org/obo/GARD_0007898
http://purl.obolibrary.org/obo/GARD_0007898 EquivalentTo 'Wolfram syndrome'
http://purl.obolibrary.org/obo/GARD_0007899
http://purl.obolibrary.org/obo/GARD_0007899 EquivalentTo 'Wolman disease'
http://purl.obolibrary.org/obo/GARD_0007894
http://purl.obolibrary.org/obo/GARD_0007894 EquivalentTo 'Winchester syndrome'
http://purl.obolibrary.org/obo/GARD_0007890
http://purl.obolibrary.org/obo/GARD_0007890 EquivalentTo 'intellectual disability-developmental delay-contractures syndrome'
http://purl.obolibrary.org/obo/GARD_0007891
http://purl.obolibrary.org/obo/GARD_0007891 EquivalentTo 'Williams syndrome'
http://purl.obolibrary.org/obo/NCIT_C34577
'Japanese encephalitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34577
http://purl.obolibrary.org/obo/NCIT_C34579
'tick-borne encephalitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34579
http://purl.obolibrary.org/obo/NCIT_C34571
'interstitial emphysema' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34571
http://purl.obolibrary.org/obo/NCIT_C34581
'endarteritis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34581
http://purl.obolibrary.org/obo/SCTID_240379005
'male genital tuberculosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_240379005
http://purl.obolibrary.org/obo/NCIT_C34616
'flatfoot' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34616
http://purl.obolibrary.org/obo/SCTID_60650002
'ring chromosome 9' EquivalentTo http://purl.obolibrary.org/obo/SCTID_60650002
http://purl.obolibrary.org/obo/SCTID_12456005
'iatrogenic disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_12456005
http://purl.obolibrary.org/obo/NCIT_C132080
'congenital pseudoarthrosis of the tibia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C132080
http://purl.obolibrary.org/obo/NCIT_C34653
'granulomatous angiitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34653
http://purl.obolibrary.org/obo/NCIT_C34654
'haemophilus infectious disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34654
http://purl.obolibrary.org/obo/NCIT_C34671
'osteoarthritis susceptibility 2' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34671
http://purl.obolibrary.org/obo/NCIT_C132055
'primary hypophysitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C132055
http://purl.obolibrary.org/obo/GARD_0007828
http://purl.obolibrary.org/obo/GARD_0007828 EquivalentTo 'meningeal tuberculosis'
http://purl.obolibrary.org/obo/GARD_0007830
http://purl.obolibrary.org/obo/GARD_0007830 EquivalentTo 'tuberous sclerosis complex'
http://purl.obolibrary.org/obo/GARD_0007837
http://purl.obolibrary.org/obo/GARD_0007837 EquivalentTo 'inborn disorder of urea cycle metabolism and ammonia detoxification'
http://purl.obolibrary.org/obo/GARD_0007843
http://purl.obolibrary.org/obo/GARD_0007843 EquivalentTo 'Usher syndrome'
http://purl.obolibrary.org/obo/GARD_0007842
http://purl.obolibrary.org/obo/GARD_0007842 EquivalentTo 'cutaneous mastocytosis'
http://purl.obolibrary.org/obo/SCTID_416483009
'paucibacillary leprosy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_416483009
http://purl.obolibrary.org/obo/GARD_0007853
http://purl.obolibrary.org/obo/GARD_0007853 EquivalentTo 'ventricular septal defect (disease)'
http://purl.obolibrary.org/obo/GARD_0007851
http://purl.obolibrary.org/obo/GARD_0007851 EquivalentTo 'cutaneous leukocytoclastic angiitis'
http://purl.obolibrary.org/obo/GARD_0007866
http://purl.obolibrary.org/obo/GARD_0007866 EquivalentTo 'neurofibromatosis type 1'
http://purl.obolibrary.org/obo/GARD_0007864
http://purl.obolibrary.org/obo/GARD_0007864 EquivalentTo 'glycogen storage disease due to glucose-6-phosphatase deficiency type Ia'
http://purl.obolibrary.org/obo/SCTID_41918006
'external pathological resorption' EquivalentTo http://purl.obolibrary.org/obo/SCTID_41918006
http://purl.obolibrary.org/obo/GARD_0007800
http://purl.obolibrary.org/obo/GARD_0007800 EquivalentTo 'trichorhinophalangeal syndrome type I'
http://purl.obolibrary.org/obo/SCTID_87605005
'pregnancy, cornual' EquivalentTo http://purl.obolibrary.org/obo/SCTID_87605005
http://purl.obolibrary.org/obo/GARD_0007801
http://purl.obolibrary.org/obo/GARD_0007801 EquivalentTo 'trichorhinophalangeal syndrome type II'
http://purl.obolibrary.org/obo/GARD_0007802
http://purl.obolibrary.org/obo/GARD_0007802 EquivalentTo 'trichorhinophalangeal syndrome, type III'
http://purl.obolibrary.org/obo/GARD_0007815
http://purl.obolibrary.org/obo/GARD_0007815 EquivalentTo 'mosaic trisomy 6'
http://purl.obolibrary.org/obo/SCTID_126907002
'female reproductive organ cancer' EquivalentTo http://purl.obolibrary.org/obo/SCTID_126907002
http://purl.obolibrary.org/obo/GARD_0007795
http://purl.obolibrary.org/obo/GARD_0007795 EquivalentTo 'dextro-looped transposition of the great arteries 1'
http://purl.obolibrary.org/obo/GARD_0007791
http://purl.obolibrary.org/obo/GARD_0007791 EquivalentTo 'Williams-Campbell syndrome'
http://purl.obolibrary.org/obo/GARD_0007792
http://purl.obolibrary.org/obo/GARD_0007792 EquivalentTo 'esophageal atresia/tracheoesophageal fistula'
http://purl.obolibrary.org/obo/GARD_0007756
http://purl.obolibrary.org/obo/GARD_0007756 EquivalentTo 'thalassemia'
http://purl.obolibrary.org/obo/SCTID_22949006
'mesenteric varices' EquivalentTo http://purl.obolibrary.org/obo/SCTID_22949006
http://purl.obolibrary.org/obo/GARD_0007781
http://purl.obolibrary.org/obo/GARD_0007781 EquivalentTo 'TORCH syndrome'
http://purl.obolibrary.org/obo/MESH_D014456
http://purl.obolibrary.org/obo/MESH_D014456 EquivalentTo 'ulcer'
http://purl.obolibrary.org/obo/NCIT_C34695
'herpes labialis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34695
http://purl.obolibrary.org/obo/PR_000016798
http://purl.obolibrary.org/obo/NCIT_C7581
'malignant syringoma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C7581
http://purl.obolibrary.org/obo/NCIT_C122660
'diaphyseal medullary stenosis-bone malignancy syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C122660
http://purl.obolibrary.org/obo/NCIT_C34738
'ischemic disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34738
http://purl.obolibrary.org/obo/MESH_D014855
http://purl.obolibrary.org/obo/MESH_D014855 EquivalentTo 'Wallerian degeneration'
http://purl.obolibrary.org/obo/NCIT_C34737
'iris disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34737
http://purl.obolibrary.org/obo/NCIT_C34731
'intestinal disaccharidase deficiency' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34731
http://purl.obolibrary.org/obo/MESH_D000219
http://purl.obolibrary.org/obo/MESH_D000219 EquivalentTo 'Adams-Stokes syndrome'
http://purl.obolibrary.org/obo/NCIT_C34746
'acquired keratosis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34746
http://purl.obolibrary.org/obo/SCTID_717014003
'Charcot-Marie-tooth disease type 2J' EquivalentTo http://purl.obolibrary.org/obo/SCTID_717014003
http://purl.obolibrary.org/obo/NCIT_C34743
'herpes simplex virus keratitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34743
http://purl.obolibrary.org/obo/MESH_C563900
http://purl.obolibrary.org/obo/MESH_C563900 EquivalentTo 'KTCN3'
http://purl.obolibrary.org/obo/MESH_C563903
http://purl.obolibrary.org/obo/MESH_C563903 EquivalentTo 'ATFB2'
http://purl.obolibrary.org/obo/MESH_D014860
http://purl.obolibrary.org/obo/MESH_D014860 EquivalentTo 'common wart'
http://purl.obolibrary.org/obo/SCTID_232230009
'malignant otitis externa caused by Pseudomonas aeruginosa' EquivalentTo http://purl.obolibrary.org/obo/SCTID_232230009
http://purl.obolibrary.org/obo/NCIT_C34773
'Leriche syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34773
http://purl.obolibrary.org/obo/MESH_D014804
http://purl.obolibrary.org/obo/MESH_D014804 EquivalentTo 'vitamin b deficiency'
http://purl.obolibrary.org/obo/NCIT_C34783
'alcoholic liver diseases' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34783
http://purl.obolibrary.org/obo/MESH_D014832
http://purl.obolibrary.org/obo/MESH_D014832 EquivalentTo 'voice disorders'
http://purl.obolibrary.org/obo/NCIT_C34799
'Plasmodium malariae malaria' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34799
http://purl.obolibrary.org/obo/GARD_0007710
http://purl.obolibrary.org/obo/GARD_0007710 EquivalentTo 'congenital sucrase-isomaltase deficiency'
http://purl.obolibrary.org/obo/SCTID_371972005
'uterine corpus cancer' EquivalentTo http://purl.obolibrary.org/obo/SCTID_371972005
http://purl.obolibrary.org/obo/GARD_0007722
http://purl.obolibrary.org/obo/GARD_0007722 EquivalentTo 'synovitis (disease)'
http://purl.obolibrary.org/obo/GARD_0007721
http://purl.obolibrary.org/obo/GARD_0007721 EquivalentTo 'synovial sarcoma (disease)'
http://purl.obolibrary.org/obo/GARD_0007731
http://purl.obolibrary.org/obo/GARD_0007731 EquivalentTo 'Tangier disease'
http://purl.obolibrary.org/obo/GARD_0007730
http://purl.obolibrary.org/obo/GARD_0007730 EquivalentTo 'Takayasu arteritis'
http://purl.obolibrary.org/obo/SCTID_363508008
'intestinal cancer' EquivalentTo http://purl.obolibrary.org/obo/SCTID_363508008
http://purl.obolibrary.org/obo/SCTID_36753006
'Yersinia pseudotuberculosis infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_36753006
http://purl.obolibrary.org/obo/SCTID_254940005
'brain oligodendroglioma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254940005
http://purl.obolibrary.org/obo/NCIT_C34714
'hypersplenism (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34714
http://purl.obolibrary.org/obo/SCTID_360369003
'holocarboxylase synthetase deficiency' EquivalentTo http://purl.obolibrary.org/obo/SCTID_360369003
http://purl.obolibrary.org/obo/GARD_0007700
http://purl.obolibrary.org/obo/GARD_0007700 EquivalentTo 'Stevens-Johnson syndrome'
http://purl.obolibrary.org/obo/GARD_0007673
http://purl.obolibrary.org/obo/GARD_0007673 EquivalentTo 'isolated spina bifida'
http://purl.obolibrary.org/obo/GARD_0007687
http://purl.obolibrary.org/obo/GARD_0007687 EquivalentTo 'spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia'
http://purl.obolibrary.org/obo/GARD_0007693
http://purl.obolibrary.org/obo/GARD_0007693 EquivalentTo 'Sprengel deformity (disease)'
http://purl.obolibrary.org/obo/GARD_0007690
http://purl.obolibrary.org/obo/GARD_0007690 EquivalentTo 'Gerstmann-Straussler-Scheinker syndrome'
http://purl.obolibrary.org/obo/GARD_0007629
http://purl.obolibrary.org/obo/GARD_0007629 EquivalentTo 'Sezary syndrome'
http://purl.obolibrary.org/obo/GARD_0007627
http://purl.obolibrary.org/obo/GARD_0007627 EquivalentTo 'septooptic dysplasia'
http://purl.obolibrary.org/obo/GARD_0007628
http://purl.obolibrary.org/obo/GARD_0007628 EquivalentTo 'severe combined immunodeficiency (disease)'
http://purl.obolibrary.org/obo/GARD_0007633
http://purl.obolibrary.org/obo/GARD_0007633 EquivalentTo 'short syndrome'
http://purl.obolibrary.org/obo/GARD_0007630
http://purl.obolibrary.org/obo/GARD_0007630 EquivalentTo 'Sheehan syndrome'
http://purl.obolibrary.org/obo/GARD_0007639
http://purl.obolibrary.org/obo/GARD_0007639 EquivalentTo 'sialidosis type 1'
http://purl.obolibrary.org/obo/GARD_0007652
http://purl.obolibrary.org/obo/GARD_0007652 EquivalentTo 'sirenomelia'
http://purl.obolibrary.org/obo/GARD_0007668
http://purl.obolibrary.org/obo/GARD_0007668 EquivalentTo 'spasmodic dystonia'
http://purl.obolibrary.org/obo/SCTID_715983001
'chromosome 8-derived supernumerary ring/marker' EquivalentTo http://purl.obolibrary.org/obo/SCTID_715983001
http://purl.obolibrary.org/obo/MESH_C563856
http://purl.obolibrary.org/obo/MESH_C563856 EquivalentTo 'sudden infant death-dysgenesis of the testes syndrome'
http://purl.obolibrary.org/obo/MESH_C563858
http://purl.obolibrary.org/obo/MESH_C563858 EquivalentTo 'OTSC5'
http://purl.obolibrary.org/obo/NCIT_C7406
'lichen planus, oral' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C7406
http://purl.obolibrary.org/obo/MESH_D000182
http://purl.obolibrary.org/obo/MESH_D000182 EquivalentTo 'ectopic ACTH secretion syndrome'
http://purl.obolibrary.org/obo/MESH_D000126
http://purl.obolibrary.org/obo/MESH_D000126 EquivalentTo 'achlorhydria'
http://purl.obolibrary.org/obo/MESH_C563822
http://purl.obolibrary.org/obo/MESH_C563822 EquivalentTo 'severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive'
http://purl.obolibrary.org/obo/MESH_C563825
http://purl.obolibrary.org/obo/MESH_C563825 EquivalentTo 'spondylometaphyseal dysplasia-cone-rod dystrophy syndrome'
http://purl.obolibrary.org/obo/MESH_C563827
http://purl.obolibrary.org/obo/MESH_C563827 EquivalentTo 'KTCN2'
http://purl.obolibrary.org/obo/MESH_D000153
http://purl.obolibrary.org/obo/MESH_D000153 EquivalentTo 'acne keloid'
http://purl.obolibrary.org/obo/MESH_D014735
http://purl.obolibrary.org/obo/MESH_D014735 EquivalentTo 'vibrio infectious disease'
http://purl.obolibrary.org/obo/SCTID_313165001
'functional visual loss' EquivalentTo http://purl.obolibrary.org/obo/SCTID_313165001
http://purl.obolibrary.org/obo/NCIT_C34864
'hereditary optic atrophy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34864
http://purl.obolibrary.org/obo/NCIT_C34875
'osteitis fibrosa' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34875
http://purl.obolibrary.org/obo/GARD_0007609
http://purl.obolibrary.org/obo/GARD_0007609 EquivalentTo 'pigmented purpuric eruption'
http://purl.obolibrary.org/obo/GARD_0007604
http://purl.obolibrary.org/obo/GARD_0007604 EquivalentTo 'Sandhoff disease'
http://purl.obolibrary.org/obo/GARD_0007610
http://purl.obolibrary.org/obo/GARD_0007610 EquivalentTo 'Scheuermann disease'
http://purl.obolibrary.org/obo/GARD_0007611
http://purl.obolibrary.org/obo/GARD_0007611 EquivalentTo 'autoimmune polyendocrinopathy type 2'
http://purl.obolibrary.org/obo/SCTID_198462004
'Pasteurella hemorrhagic septicemia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_198462004
http://purl.obolibrary.org/obo/GARD_0007551
http://purl.obolibrary.org/obo/GARD_0007551 EquivalentTo 'renal osteodystrophy'
http://purl.obolibrary.org/obo/GARD_0007559
http://purl.obolibrary.org/obo/GARD_0007559 EquivalentTo 'reticuloendotheliosis, X-linked'
http://purl.obolibrary.org/obo/GARD_0007563
http://purl.obolibrary.org/obo/GARD_0007563 EquivalentTo 'retinoblastoma'
http://purl.obolibrary.org/obo/GARD_0007577
http://purl.obolibrary.org/obo/GARD_0007577 EquivalentTo 'rheumatoid vasculitis'
http://purl.obolibrary.org/obo/GARD_0007578
http://purl.obolibrary.org/obo/GARD_0007578 EquivalentTo 'Richter syndrome'
http://purl.obolibrary.org/obo/GARD_0007572
http://purl.obolibrary.org/obo/GARD_0007572 EquivalentTo 'rhabdoid tumor'
http://purl.obolibrary.org/obo/GARD_0007588
http://purl.obolibrary.org/obo/GARD_0007588 EquivalentTo 'sinus histiocytosis with massive lymphadenopathy'
http://purl.obolibrary.org/obo/GARD_0007581
http://purl.obolibrary.org/obo/GARD_0007581 EquivalentTo 'Riley-Day syndrome'
http://purl.obolibrary.org/obo/GARD_0007513
http://purl.obolibrary.org/obo/GARD_0007513 EquivalentTo 'pyruvate dehydrogenase deficiency'
http://purl.obolibrary.org/obo/GARD_0007514
http://purl.obolibrary.org/obo/GARD_0007514 EquivalentTo 'pyruvate kinase deficiency of red cells'
http://purl.obolibrary.org/obo/GARD_0007512
http://purl.obolibrary.org/obo/GARD_0007512 EquivalentTo 'pyruvate carboxylase deficiency disease'
http://purl.obolibrary.org/obo/GARD_0007525
http://purl.obolibrary.org/obo/GARD_0007525 EquivalentTo 'facial nerve palsy due to herpes zoster infection'
http://purl.obolibrary.org/obo/GARD_0007527
http://purl.obolibrary.org/obo/GARD_0007527 EquivalentTo 'Rasmussen subacute encephalitis'
http://purl.obolibrary.org/obo/SCTID_44795003
'Rh isoimmunization' EquivalentTo http://purl.obolibrary.org/obo/SCTID_44795003
http://purl.obolibrary.org/obo/MESH_C563973
http://purl.obolibrary.org/obo/MESH_C563973 EquivalentTo 'craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome'
http://purl.obolibrary.org/obo/MESH_C563975
http://purl.obolibrary.org/obo/MESH_C563975 EquivalentTo 'EXT3'
http://purl.obolibrary.org/obo/MESH_C563922
http://purl.obolibrary.org/obo/MESH_C563922 EquivalentTo 'MYP5'
http://purl.obolibrary.org/obo/MESH_C563923
http://purl.obolibrary.org/obo/MESH_C563923 EquivalentTo 'corneal dystrophy, lattice type 3A'
http://purl.obolibrary.org/obo/MESH_D014653
http://purl.obolibrary.org/obo/MESH_D014653 EquivalentTo 'obsolete vascular headache'
http://purl.obolibrary.org/obo/MESH_C563928
http://purl.obolibrary.org/obo/MESH_C563928 EquivalentTo 'speech-sound disorder'
http://purl.obolibrary.org/obo/GARD_0007597
http://purl.obolibrary.org/obo/GARD_0007597 EquivalentTo 'sacral nerve plexus disease'
http://purl.obolibrary.org/obo/GARD_0007593
http://purl.obolibrary.org/obo/GARD_0007593 EquivalentTo 'Rubinstein-Taybi syndrome'
http://purl.obolibrary.org/obo/NCIT_C122414
'steroid-responsive encephalopathy associated with autoimmune thyroiditis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C122414
http://purl.obolibrary.org/obo/NCIT_C122427
'fetal cytomegalovirus syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C122427
http://purl.obolibrary.org/obo/NCIT_C7346
'cervical squamous intraepithelial neoplasia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C7346
http://purl.obolibrary.org/obo/MESH_D004834
http://purl.obolibrary.org/obo/MESH_D004834 EquivalentTo 'post-traumatic epilepsy'
http://purl.obolibrary.org/obo/MESH_D004829
http://purl.obolibrary.org/obo/MESH_D004829 EquivalentTo 'generalised epilepsy'
http://purl.obolibrary.org/obo/SCTID_124596009
'disorder of glutamate decarboxylase' EquivalentTo http://purl.obolibrary.org/obo/SCTID_124596009
http://purl.obolibrary.org/obo/GARD_0003113
http://purl.obolibrary.org/obo/GARD_0003113 EquivalentTo 'KID syndrome'
http://purl.obolibrary.org/obo/GARD_0003118
http://purl.obolibrary.org/obo/GARD_0003118 EquivalentTo 'hallux varus-preaxial polysyndactyly syndrome'
http://purl.obolibrary.org/obo/GARD_0003125
http://purl.obolibrary.org/obo/GARD_0003125 EquivalentTo 'Bart-Pumphrey syndrome'
http://purl.obolibrary.org/obo/GARD_0003126
http://purl.obolibrary.org/obo/GARD_0003126 EquivalentTo 'familial partial lipodystrophy, Dunnigan type'
http://purl.obolibrary.org/obo/GARD_0003128
http://purl.obolibrary.org/obo/GARD_0003128 EquivalentTo 'Amelocerebrohypohidrotic syndrome'
http://purl.obolibrary.org/obo/GARD_0003129
http://purl.obolibrary.org/obo/GARD_0003129 EquivalentTo 'hereditary hyperekplexia'
http://purl.obolibrary.org/obo/GARD_0003141
http://purl.obolibrary.org/obo/GARD_0003141 EquivalentTo 'intellectual disability-polydactyly-uncombable hair syndrome'
http://purl.obolibrary.org/obo/GARD_0003100
http://purl.obolibrary.org/obo/GARD_0003100 EquivalentTo 'Papillon-Lefevre disease'
http://purl.obolibrary.org/obo/GARD_0003103
http://purl.obolibrary.org/obo/GARD_0003103 EquivalentTo 'punctate palmoplantar keratoderma type 1'
http://purl.obolibrary.org/obo/GARD_0003075
http://purl.obolibrary.org/obo/GARD_0003075 EquivalentTo 'acrocraniofacial dysostosis'
http://purl.obolibrary.org/obo/GARD_0003070
http://purl.obolibrary.org/obo/GARD_0003070 EquivalentTo 'hypogonadotropic hypogonadism 2 with or without anosmia'
http://purl.obolibrary.org/obo/GARD_0003071
http://purl.obolibrary.org/obo/GARD_0003071 EquivalentTo 'hypogonadotropic hypogonadism 1 with or without anosmia'
http://purl.obolibrary.org/obo/GARD_0003073
http://purl.obolibrary.org/obo/GARD_0003073 EquivalentTo 'hypogonadotropic hypogonadism 3 with or without anosmia'
http://purl.obolibrary.org/obo/GARD_0003089
http://purl.obolibrary.org/obo/GARD_0003089 EquivalentTo 'autosomal dominant keratitis'
http://purl.obolibrary.org/obo/GARD_0003086
http://purl.obolibrary.org/obo/GARD_0003086 EquivalentTo 'PAGOD syndrome'
http://purl.obolibrary.org/obo/GARD_0003084
http://purl.obolibrary.org/obo/GARD_0003084 EquivalentTo 'oculocerebrofacial syndrome, Kaufman type'
http://purl.obolibrary.org/obo/NCIT_C107377
'musculoskeletal system disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C107377
http://purl.obolibrary.org/obo/GARD_0003092
http://purl.obolibrary.org/obo/GARD_0003092 EquivalentTo 'keratoderma hereditarium mutilans'
http://purl.obolibrary.org/obo/GARD_0003094
http://purl.obolibrary.org/obo/GARD_0003094 EquivalentTo 'palmoplantar keratoderma-deafness syndrome'
http://purl.obolibrary.org/obo/GARD_0003095
http://purl.obolibrary.org/obo/GARD_0003095 EquivalentTo 'palmoplantar keratoderma-spastic paralysis syndrome'
http://purl.obolibrary.org/obo/GARD_0003030
http://purl.obolibrary.org/obo/GARD_0003030 EquivalentTo 'Coxopodopatellar syndrome'
http://purl.obolibrary.org/obo/GARD_0003033
http://purl.obolibrary.org/obo/GARD_0003033 EquivalentTo 'isosporiasis'
http://purl.obolibrary.org/obo/GARD_0003045
http://purl.obolibrary.org/obo/GARD_0003045 EquivalentTo 'neuronal ceroid lipofuscinosis 2'
http://purl.obolibrary.org/obo/GARD_0003044
http://purl.obolibrary.org/obo/GARD_0003044 EquivalentTo 'spinal muscular atrophy-progressive myoclonic epilepsy syndrome'
http://purl.obolibrary.org/obo/GARD_0003049
http://purl.obolibrary.org/obo/GARD_0003049 EquivalentTo 'Jeune syndrome'
http://purl.obolibrary.org/obo/GARD_0003056
http://purl.obolibrary.org/obo/GARD_0003056 EquivalentTo 'gingival fibromatosis-progressive deafness syndrome'
http://purl.obolibrary.org/obo/GARD_0003057
http://purl.obolibrary.org/obo/GARD_0003057 EquivalentTo 'blepharophimosis-radioulnar synostosis syndrome'
http://purl.obolibrary.org/obo/GARD_0003053
http://purl.obolibrary.org/obo/GARD_0003053 EquivalentTo 'arthrogryposis-hyperkeratosis syndrome, lethal form'
http://purl.obolibrary.org/obo/GARD_0003054
http://purl.obolibrary.org/obo/GARD_0003054 EquivalentTo 'Ehlers-Danlos syndrome type 11'
http://purl.obolibrary.org/obo/GARD_0003055
http://purl.obolibrary.org/obo/GARD_0003055 EquivalentTo 'jones hersh yusk syndrome'
http://purl.obolibrary.org/obo/GARD_0003051
http://purl.obolibrary.org/obo/GARD_0003051 EquivalentTo 'Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome'
http://purl.obolibrary.org/obo/GARD_0003065
http://purl.obolibrary.org/obo/GARD_0003065 EquivalentTo 'juvenile polyposis syndrome'
http://purl.obolibrary.org/obo/GARD_0003066
http://purl.obolibrary.org/obo/GARD_0003066 EquivalentTo 'congenital hypotrichosis with juvenile macular dystrophy'
http://purl.obolibrary.org/obo/GARD_0003062
http://purl.obolibrary.org/obo/GARD_0003062 EquivalentTo 'anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis'
http://purl.obolibrary.org/obo/MESH_D004775
http://purl.obolibrary.org/obo/MESH_D004775 EquivalentTo 'enuresis'
http://purl.obolibrary.org/obo/MESH_D004751
http://purl.obolibrary.org/obo/MESH_D004751 EquivalentTo 'enteritis'
http://purl.obolibrary.org/obo/SCTID_50923006
'uterine cervix leukoplakia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_50923006
http://www.orpha.net/ORDO/Orphanet_165976
'FG syndrome 4' EquivalentTo http://www.orpha.net/ORDO/Orphanet_165976
http://purl.obolibrary.org/obo/GARD_0003004
http://purl.obolibrary.org/obo/GARD_0003004 EquivalentTo 'infantile striato thalamic degeneration'
http://purl.obolibrary.org/obo/SCTID_254626006
'lung adenocarcinoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254626006
http://purl.obolibrary.org/obo/GARD_0003005
http://purl.obolibrary.org/obo/GARD_0003005 EquivalentTo 'infundibulopelvic stenosis-multicystic kidney syndrome'
http://purl.obolibrary.org/obo/GARD_0003006
http://purl.obolibrary.org/obo/GARD_0003006 EquivalentTo 'hereditary sensory and autonomic neuropathy type 4'
http://purl.obolibrary.org/obo/GARD_0003007
http://purl.obolibrary.org/obo/GARD_0003007 EquivalentTo 'mosaic variegated aneuploidy syndrome'
http://purl.obolibrary.org/obo/GARD_0003008
http://purl.obolibrary.org/obo/GARD_0003008 EquivalentTo 'insulin-resistance syndrome type A'
http://purl.obolibrary.org/obo/GARD_0003010
http://purl.obolibrary.org/obo/GARD_0003010 EquivalentTo 'pancreatic insulinoma'
http://purl.obolibrary.org/obo/GARD_0003011
http://purl.obolibrary.org/obo/GARD_0003011 EquivalentTo 'mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency'
http://purl.obolibrary.org/obo/GO_1901999
http://purl.obolibrary.org/obo/GARD_0003024
http://purl.obolibrary.org/obo/GARD_0003024 EquivalentTo 'congenital intrinsic factor deficiency'
http://purl.obolibrary.org/obo/GARD_0003025
http://purl.obolibrary.org/obo/GARD_0003025 EquivalentTo 'neonatal iodine exposure'
http://purl.obolibrary.org/obo/GARD_0003026
http://purl.obolibrary.org/obo/GARD_0003026 EquivalentTo 'anterior segment dysgenesis 4'
http://purl.obolibrary.org/obo/GARD_0003020
http://purl.obolibrary.org/obo/GARD_0003020 EquivalentTo 'arteriovenous malformations of the brain'
http://purl.obolibrary.org/obo/MESH_D004692
http://purl.obolibrary.org/obo/MESH_D004692 EquivalentTo 'endarteritis'
http://purl.obolibrary.org/obo/MESH_D014036
http://purl.obolibrary.org/obo/MESH_D014036 EquivalentTo 'Togaviridae infectious disease'
http://purl.obolibrary.org/obo/GO_0018271
http://purl.obolibrary.org/obo/HP_0005506
http://purl.obolibrary.org/obo/SCTID_422167001
'Anaplasmataceae infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_422167001
http://purl.obolibrary.org/obo/SCTID_236644005
'functional disorder of bladder neck and sphincter mechanism' EquivalentTo http://purl.obolibrary.org/obo/SCTID_236644005
http://purl.obolibrary.org/obo/MESH_D014399
http://purl.obolibrary.org/obo/MESH_D014399 EquivalentTo 'tuberculosis, spinal'
http://purl.obolibrary.org/obo/PR_000016654
http://purl.obolibrary.org/obo/NCIT_C34346
'acne keloid' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34346
http://purl.obolibrary.org/obo/SCTID_721313009
'indeterminate cell histiocytosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_721313009
http://purl.obolibrary.org/obo/MESH_D014355
http://purl.obolibrary.org/obo/MESH_D014355 EquivalentTo 'Chagas disease'
http://purl.obolibrary.org/obo/NCIT_C34351
'cervicofacial actinomycosis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34351
http://purl.obolibrary.org/obo/NCIT_C34365
'variola minor infection' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34365
http://purl.obolibrary.org/obo/NCIT_C34366
'alcohol amnestic disorder' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34366
http://purl.obolibrary.org/obo/NCIT_C34377
'rare acquired hemolytic anemia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34377
http://purl.obolibrary.org/obo/NCIT_C34370
'non-syndromic amelia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34370
http://purl.obolibrary.org/obo/NCIT_C34399
'arteritis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34399
http://purl.obolibrary.org/obo/SCTID_254097005
'StCve-Wiedemann syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254097005
http://purl.obolibrary.org/obo/NCIT_C34403
'arteriosclerosis disorder' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34403
http://purl.obolibrary.org/obo/NCIT_C34418
'beriberi' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34418
http://purl.obolibrary.org/obo/NCIT_C34422
'binocular vision disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34422
http://purl.obolibrary.org/obo/NCIT_C34439
'bronchial disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34439
http://purl.obolibrary.org/obo/NCIT_C34432
'rare bone development disorder' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34432
http://purl.obolibrary.org/obo/NCIT_C132293
'severe neonatal-onset encephalopathy with microcephaly' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C132293
http://purl.obolibrary.org/obo/NCIT_C34441
'burn' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34441
http://purl.obolibrary.org/obo/SCTID_203522001
'lytic metastatic bone lesion' EquivalentTo http://purl.obolibrary.org/obo/SCTID_203522001
http://purl.obolibrary.org/obo/SCTID_68528007
'hyperphenylalaninemia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_68528007
http://purl.obolibrary.org/obo/SCTID_15945005
'psychogenic polydipsia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_15945005
http://purl.obolibrary.org/obo/MESH_D004881
http://purl.obolibrary.org/obo/MESH_D004881 EquivalentTo 'ergotism'
http://purl.obolibrary.org/obo/NCIT_C34483
'severe cutaneous adverse reaction' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34483
http://purl.obolibrary.org/obo/SCTID_230496009
'non-24-hour sleep-wake syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_230496009
http://linkedlifedata.com/resource/umls/id/C0025306
http://linkedlifedata.com/resource/umls/id/C0025306 EquivalentTo 'meningococcemia'
http://purl.obolibrary.org/obo/SCTID_76902006
'tetanus' EquivalentTo http://purl.obolibrary.org/obo/SCTID_76902006
http://purl.obolibrary.org/obo/NCIT_C3239
'autosomal monosomy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3239
http://purl.obolibrary.org/obo/NCIT_C3241
'mucocele of appendix' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3241
http://www.orpha.net/ORDO/Orphanet_46489
'bullous systemic lupus erythematosus' EquivalentTo http://www.orpha.net/ORDO/Orphanet_46489
http://purl.obolibrary.org/obo/MESH_D016399
http://purl.obolibrary.org/obo/MESH_D016399 EquivalentTo 'T-cell non-Hodgkin lymphoma'
http://purl.obolibrary.org/obo/SCTID_1475003
'herpes labialis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_1475003
http://purl.obolibrary.org/obo/MESH_D065310
http://purl.obolibrary.org/obo/MESH_D065310 EquivalentTo 'cervical squamous intraepithelial neoplasia'
http://purl.obolibrary.org/obo/MESH_D055985
http://purl.obolibrary.org/obo/MESH_D055985 EquivalentTo 'inactive tuberculosis'
http://purl.obolibrary.org/obo/MESH_D055958
http://purl.obolibrary.org/obo/MESH_D055958 EquivalentTo 'piriformis syndrome'
http://purl.obolibrary.org/obo/NCIT_C3283
'obesity (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3283
http://purl.obolibrary.org/obo/NCIT_C3287
'odontoma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3287
http://purl.obolibrary.org/obo/SCTID_111835002
'Campylobacter fetus infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_111835002
http://purl.obolibrary.org/obo/NCIT_C3106
'histiocytosis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3106
http://purl.obolibrary.org/obo/SCTID_111571009
'atransferrinemia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_111571009
http://purl.obolibrary.org/obo/NCIT_C3112
'hypercalcemia (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3112
http://purl.obolibrary.org/obo/NCIT_C3119
'portal hypertension' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3119
http://purl.obolibrary.org/obo/NCIT_C3116
'IgE responsiveness, atopic' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3116
http://purl.obolibrary.org/obo/NCIT_C3117
'hypertension' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3117
http://purl.obolibrary.org/obo/NCIT_C3126
'hypoglycemia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3126
http://purl.obolibrary.org/obo/NCIT_C3134
'epidermoid cysts' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3134
http://purl.obolibrary.org/obo/SCTID_21049007
'trichostasis spinulosa' EquivalentTo http://purl.obolibrary.org/obo/SCTID_21049007
http://purl.obolibrary.org/obo/NCIT_C129307
'hyperammonemia due to N-acetylglutamate synthase deficiency' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C129307
http://purl.obolibrary.org/obo/NCIT_C119996
'idiopathic juvenile osteoporosis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C119996
http://purl.obolibrary.org/obo/MESH_D016269
http://purl.obolibrary.org/obo/MESH_D016269 EquivalentTo 'milk allergic reaction'
http://purl.obolibrary.org/obo/MESH_D055847
http://purl.obolibrary.org/obo/MESH_D055847 EquivalentTo 'colorectal cancer, hereditary nonpolyposis, type 2'
http://purl.obolibrary.org/obo/NCIT_C129260
'infective dermatitis associated with HTLV-1' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C129260
http://purl.obolibrary.org/obo/SCTID_370469003
'serositis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_370469003
http://purl.obolibrary.org/obo/NCIT_C120887
'glomerular disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C120887
http://purl.obolibrary.org/obo/NCIT_C3186
'leukoplakia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3186
http://purl.obolibrary.org/obo/NCIT_C3196
'liver disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3196
http://purl.obolibrary.org/obo/SCTID_722870008
'IgG4-related sclerosing cholangitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_722870008
http://purl.obolibrary.org/obo/GARD_0005925
http://purl.obolibrary.org/obo/GARD_0005925 EquivalentTo 'multi-infarct dementia'
http://www.orpha.net/ORDO/Orphanet_119999
'macrocytic anemia (disease)' EquivalentTo http://www.orpha.net/ORDO/Orphanet_119999
http://purl.obolibrary.org/obo/GARD_0005932
http://purl.obolibrary.org/obo/GARD_0005932 EquivalentTo 'blepharophimosis (disease)'
http://purl.obolibrary.org/obo/GARD_0005940
http://purl.obolibrary.org/obo/GARD_0005940 EquivalentTo 'blue rubber bleb nevus'
http://purl.obolibrary.org/obo/MESH_C535885
http://purl.obolibrary.org/obo/MESH_C535885 EquivalentTo 'jones hersh yusk syndrome'
http://purl.obolibrary.org/obo/MESH_C535877
http://purl.obolibrary.org/obo/MESH_C535877 EquivalentTo 'rubinstein taybi like syndrome'
http://purl.obolibrary.org/obo/GARD_0005961
http://purl.obolibrary.org/obo/GARD_0005961 EquivalentTo 'bronchiolitis obliterans with obstructive pulmonary disease'
http://purl.obolibrary.org/obo/MESH_C535869
http://purl.obolibrary.org/obo/MESH_C535869 EquivalentTo 'rokitansky-aschoff sinuses of the gallbladder'
http://purl.obolibrary.org/obo/GARD_0005909
http://purl.obolibrary.org/obo/GARD_0005909 EquivalentTo 'blepharospasm'
http://purl.obolibrary.org/obo/GARD_0005907
http://purl.obolibrary.org/obo/GARD_0005907 EquivalentTo 'diffuse astrocytoma'
http://purl.obolibrary.org/obo/NCIT_C3013
'endometrial hyperplasia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3013
http://purl.obolibrary.org/obo/GARD_0005915
http://purl.obolibrary.org/obo/GARD_0005915 EquivalentTo 'benign paroxysmal positional nystagmus'
http://purl.obolibrary.org/obo/GARD_0005913
http://purl.obolibrary.org/obo/GARD_0005913 EquivalentTo 'mucous membrane pemphigoid'
http://purl.obolibrary.org/obo/NCIT_C3021
'generalised epilepsy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3021
http://purl.obolibrary.org/obo/GARD_0005969
http://purl.obolibrary.org/obo/GARD_0005969 EquivalentTo 'thromboangiitis obliterans'
http://purl.obolibrary.org/obo/GARD_0005973
http://purl.obolibrary.org/obo/GARD_0005973 EquivalentTo 'Burkitts lymphoma'
http://purl.obolibrary.org/obo/GARD_0005972
http://purl.obolibrary.org/obo/GARD_0005972 EquivalentTo 'bullous pemphigoid'
http://purl.obolibrary.org/obo/MESH_C535857
http://purl.obolibrary.org/obo/MESH_C535857 EquivalentTo 'trismus-pseudocamptodactyly syndrome'
http://purl.obolibrary.org/obo/GARD_0005979
http://purl.obolibrary.org/obo/GARD_0005979 EquivalentTo 'hereditary angioedema'
http://purl.obolibrary.org/obo/MESH_C535839
http://purl.obolibrary.org/obo/MESH_C535839 EquivalentTo 'pancreatic lipomatosis duodenal stenosis'
http://purl.obolibrary.org/obo/MESH_C535835
http://purl.obolibrary.org/obo/MESH_C535835 EquivalentTo 'Schwartz-Cohen-addad-Lambert syndrome'
http://purl.obolibrary.org/obo/MESH_C535832
http://purl.obolibrary.org/obo/MESH_C535832 EquivalentTo 'hereditary pulmonary alveolar proteinosis'
http://purl.obolibrary.org/obo/MESH_C535820
http://purl.obolibrary.org/obo/MESH_C535820 EquivalentTo 'pseudoachondroplastic dysplasia 2'
http://purl.obolibrary.org/obo/SCTID_444558002
'nephronophthisis 16' EquivalentTo http://purl.obolibrary.org/obo/SCTID_444558002
http://purl.obolibrary.org/obo/NCBITaxon_12845
http://purl.obolibrary.org/obo/MESH_D016512
http://purl.obolibrary.org/obo/MESH_D016512 EquivalentTo 'ankle injury'
http://purl.obolibrary.org/obo/NCIT_C3047
'pathologic fracture' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3047
http://www.orpha.net/ORDO/Orphanet_168972
'Kahrizi syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_168972
http://purl.obolibrary.org/obo/GARD_0005808
http://purl.obolibrary.org/obo/GARD_0005808 EquivalentTo 'isolated anencephaly/exencephaly'
http://purl.obolibrary.org/obo/GARD_0005802
http://purl.obolibrary.org/obo/GARD_0005802 EquivalentTo 'otopalatodigital syndrome type 2'
http://purl.obolibrary.org/obo/SCTID_45163000
'non-syndromic pontocerebellar hypoplasia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_45163000
http://purl.obolibrary.org/obo/GARD_0005819
http://purl.obolibrary.org/obo/GARD_0005819 EquivalentTo 'testicular agenesis'
http://purl.obolibrary.org/obo/GARD_0005810
http://purl.obolibrary.org/obo/GARD_0005810 EquivalentTo 'Angelman syndrome'
http://purl.obolibrary.org/obo/GARD_0005828
http://purl.obolibrary.org/obo/GARD_0005828 EquivalentTo 'aorta coarctation'
http://purl.obolibrary.org/obo/GARD_0005824
http://purl.obolibrary.org/obo/GARD_0005824 EquivalentTo 'antiphospholipid syndrome'
http://purl.obolibrary.org/obo/GARD_0005830
http://purl.obolibrary.org/obo/GARD_0005830 EquivalentTo 'aortic valve stenosis'
http://purl.obolibrary.org/obo/MESH_C535996
http://purl.obolibrary.org/obo/MESH_C535996 EquivalentTo 'Lowe-Kohn-Cohen syndrome'
http://purl.obolibrary.org/obo/GARD_0005839
http://purl.obolibrary.org/obo/GARD_0005839 EquivalentTo 'arachnoiditis'
http://purl.obolibrary.org/obo/GARD_0005836
http://purl.obolibrary.org/obo/GARD_0005836 EquivalentTo 'idiopathic aplastic anemia'
http://purl.obolibrary.org/obo/GARD_0005835
http://purl.obolibrary.org/obo/GARD_0005835 EquivalentTo 'aplasia cutis congenita (disease)'
http://purl.obolibrary.org/obo/GARD_0005833
http://purl.obolibrary.org/obo/GARD_0005833 EquivalentTo 'apert syndrome'
http://purl.obolibrary.org/obo/GARD_0005840
http://purl.obolibrary.org/obo/GARD_0005840 EquivalentTo 'hyperargininemia'
http://purl.obolibrary.org/obo/SCTID_46090001
'balanoposthitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_46090001
http://purl.obolibrary.org/obo/GARD_0005896
http://purl.obolibrary.org/obo/GARD_0005896 EquivalentTo 'migraine with brainstem aura'
http://purl.obolibrary.org/obo/GARD_0005897
http://purl.obolibrary.org/obo/GARD_0005897 EquivalentTo 'neuronal ceroid lipofuscinosis 3'
http://purl.obolibrary.org/obo/GARD_0005898
http://purl.obolibrary.org/obo/GARD_0005898 EquivalentTo 'congenital myopathy'
http://purl.obolibrary.org/obo/GARD_0005899
http://purl.obolibrary.org/obo/GARD_0005899 EquivalentTo 'congenital contractural arachnodactyly'
http://purl.obolibrary.org/obo/MESH_C535911
http://purl.obolibrary.org/obo/MESH_C535911 EquivalentTo 'Marfan syndrome type 2'
http://purl.obolibrary.org/obo/SCTID_410055005
'prolidase deficiency' EquivalentTo http://purl.obolibrary.org/obo/SCTID_410055005
http://purl.obolibrary.org/obo/GARD_0005847
http://purl.obolibrary.org/obo/GARD_0005847 EquivalentTo 'arrhythmogenic right ventricular cardiomyopathy'
http://purl.obolibrary.org/obo/GARD_0005852
http://purl.obolibrary.org/obo/GARD_0005852 EquivalentTo 'asbestosis'
http://purl.obolibrary.org/obo/GARD_0005853
http://purl.obolibrary.org/obo/GARD_0005853 EquivalentTo 'Asherman syndrome'
http://purl.obolibrary.org/obo/GARD_0005854
http://purl.obolibrary.org/obo/GARD_0005854 EquivalentTo 'aspartylglucosaminuria'
http://purl.obolibrary.org/obo/GARD_0005860
http://purl.obolibrary.org/obo/GARD_0005860 EquivalentTo 'anaplastic astrocytoma'
http://purl.obolibrary.org/obo/MESH_C535964
http://purl.obolibrary.org/obo/MESH_C535964 EquivalentTo 'collagenopathy type 2 alpha 1'
http://www.orpha.net/ORDO/Orphanet_119829
'Caronte' EquivalentTo http://www.orpha.net/ORDO/Orphanet_119829
http://purl.obolibrary.org/obo/GARD_0005865
http://purl.obolibrary.org/obo/GARD_0005865 EquivalentTo 'atrial septal defect, ostium secundum type'
http://purl.obolibrary.org/obo/GARD_0005870
http://purl.obolibrary.org/obo/GARD_0005870 EquivalentTo 'autoimmune hemolytic anemia'
http://purl.obolibrary.org/obo/GARD_0005871
http://purl.obolibrary.org/obo/GARD_0005871 EquivalentTo 'autoimmune hepatitis'
http://purl.obolibrary.org/obo/NCIT_C129029
'ornithine translocase deficiency' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C129029
http://purl.obolibrary.org/obo/HP_0030764
http://purl.obolibrary.org/obo/SCTID_236655005
'detrusor sphincter dyssynergia (disease)' EquivalentTo http://purl.obolibrary.org/obo/SCTID_236655005
http://purl.obolibrary.org/obo/SCTID_205237003
'pneumonitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_205237003
http://purl.obolibrary.org/obo/MESH_D016459
http://purl.obolibrary.org/obo/MESH_D016459 EquivalentTo 'prosthesis-related infectious disease'
http://purl.obolibrary.org/obo/SCTID_718183003
'familial thyroid dyshormonogenesis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_718183003
http://purl.obolibrary.org/obo/SCTID_715406003
'isolated lissencephaly type 1 without known genetic defects' EquivalentTo http://purl.obolibrary.org/obo/SCTID_715406003
http://purl.obolibrary.org/obo/GARD_0001323
http://purl.obolibrary.org/obo/GARD_0001323 EquivalentTo 'distal monosomy 10p'
http://purl.obolibrary.org/obo/NCIT_C3671
'injury' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3671
http://purl.obolibrary.org/obo/NCIT_C3672
'calcinosis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3672
http://purl.obolibrary.org/obo/GARD_0001340
http://purl.obolibrary.org/obo/GARD_0001340 EquivalentTo 'partial deletion of the long arm of chromosome 4'
http://purl.obolibrary.org/obo/GARD_0001346
http://purl.obolibrary.org/obo/GARD_0001346 EquivalentTo 'partial deletion of the short arm of chromosome 7'
http://purl.obolibrary.org/obo/GARD_0001347
http://purl.obolibrary.org/obo/GARD_0001347 EquivalentTo 'chromosome 8-derived supernumerary ring/marker'
http://purl.obolibrary.org/obo/NCIT_C3694
'neutrophil actin dysfunction' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3694
http://purl.obolibrary.org/obo/MESH_C580233
http://purl.obolibrary.org/obo/MESH_C580233 EquivalentTo 'glycogen storage disease due to lactate dehydrogenase deficiency'
http://purl.obolibrary.org/obo/GARD_0001356
http://purl.obolibrary.org/obo/GARD_0001356 EquivalentTo 'CINCA syndrome'
http://purl.obolibrary.org/obo/GARD_0001357
http://purl.obolibrary.org/obo/GARD_0001357 EquivalentTo 'Chudley-Lowry-Hoar syndrome'
http://purl.obolibrary.org/obo/GARD_0001358
http://purl.obolibrary.org/obo/GARD_0001358 EquivalentTo 'intellectual disability-myopathy-short stature-endocrine defect syndrome'
http://purl.obolibrary.org/obo/GARD_0001361
http://purl.obolibrary.org/obo/GARD_0001361 EquivalentTo 'ciliary dyskinesia with transposition of ciliary microtubules'
http://purl.obolibrary.org/obo/GARD_0001300
http://purl.obolibrary.org/obo/GARD_0001300 EquivalentTo 'acromesomelic dysplasia, Grebe type'
http://purl.obolibrary.org/obo/GARD_0001303
http://purl.obolibrary.org/obo/GARD_0001303 EquivalentTo 'chordoma (disease)'
http://purl.obolibrary.org/obo/GARD_0001319
http://purl.obolibrary.org/obo/GARD_0001319 EquivalentTo 'chromomycosis'
http://purl.obolibrary.org/obo/GARD_0001313
http://purl.obolibrary.org/obo/GARD_0001313 EquivalentTo 'infantile choroidocerebral calcification syndrome'
http://purl.obolibrary.org/obo/GARD_0001320
http://purl.obolibrary.org/obo/GARD_0001320 EquivalentTo 'ring chromosome 1'
http://purl.obolibrary.org/obo/SCTID_61772003
'glycogen storage disease due to phosphoglycerate mutase deficiency' EquivalentTo http://purl.obolibrary.org/obo/SCTID_61772003
http://purl.obolibrary.org/obo/SCTID_419074008
'central cloudy dystrophy of FranC'ois' EquivalentTo http://purl.obolibrary.org/obo/SCTID_419074008
http://purl.obolibrary.org/obo/SCTID_230374002
'progressive relapsing multiple sclerosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_230374002
http://purl.obolibrary.org/obo/NCIT_C3669
'nutritional deficiency disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3669
http://purl.obolibrary.org/obo/MESH_D006560
http://purl.obolibrary.org/obo/MESH_D006560 EquivalentTo 'herpes labialis'
http://purl.obolibrary.org/obo/SCTID_84004001
'radiation pneumonitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_84004001
http://purl.obolibrary.org/obo/SCTID_26039008
'neurosyphilis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_26039008
http://purl.obolibrary.org/obo/PR_000008826
http://purl.obolibrary.org/obo/MESH_C580162
http://purl.obolibrary.org/obo/MESH_C580162 EquivalentTo 'hereditary sensory neuropathy-deafness-dementia syndrome'
http://purl.obolibrary.org/obo/GARD_0001222
http://purl.obolibrary.org/obo/GARD_0001222 EquivalentTo 'neuronal ceroid lipofuscinosis 4B'
http://purl.obolibrary.org/obo/GARD_0001235
http://purl.obolibrary.org/obo/GARD_0001235 EquivalentTo 'multifocal atrial tachycardia (disease)'
http://purl.obolibrary.org/obo/GARD_0001243
http://purl.obolibrary.org/obo/GARD_0001243 EquivalentTo 'Charcot-Marie-tooth disease X-linked recessive 2'
http://purl.obolibrary.org/obo/GARD_0001244
http://purl.obolibrary.org/obo/GARD_0001244 EquivalentTo 'Charcot-Marie-tooth disease X-linked recessive 3'
http://purl.obolibrary.org/obo/GARD_0001240
http://purl.obolibrary.org/obo/GARD_0001240 EquivalentTo 'Charcot-Marie-tooth disease X-linked recessive 4'
http://purl.obolibrary.org/obo/SCTID_18805001
'congenital sodium diarrhea' EquivalentTo http://purl.obolibrary.org/obo/SCTID_18805001
http://purl.obolibrary.org/obo/GARD_0001292
http://purl.obolibrary.org/obo/GARD_0001292 EquivalentTo 'familial calcium pyrophosphate deposition'
http://purl.obolibrary.org/obo/NCIT_C115164
'nosocomial infection' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C115164
http://purl.obolibrary.org/obo/SCTID_363417006
'ampulla of vater cancer' EquivalentTo http://purl.obolibrary.org/obo/SCTID_363417006
http://purl.obolibrary.org/obo/SCTID_713886006
'BK-virus nephropathy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_713886006
http://purl.obolibrary.org/obo/NCIT_C115149
'adenoviridae infectious disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C115149
http://purl.obolibrary.org/obo/NCIT_C3504
'endometrial disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3504
http://purl.obolibrary.org/obo/NCIT_C129742
'maturity-onset diabetes of the young type 3' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C129742
http://purl.obolibrary.org/obo/GARD_0001246
http://purl.obolibrary.org/obo/GARD_0001246 EquivalentTo 'Charcot-Marie-tooth disease type 1B'
http://purl.obolibrary.org/obo/SCTID_54097007
'leukocyte disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_54097007
http://purl.obolibrary.org/obo/GARD_0001258
http://purl.obolibrary.org/obo/GARD_0001258 EquivalentTo 'Charcot-Marie-tooth disease X-linked dominant 1'
http://purl.obolibrary.org/obo/GARD_0001265
http://purl.obolibrary.org/obo/GARD_0001265 EquivalentTo 'chemodectoma, intraabdominal, with cutaneous angiolipomas'
http://purl.obolibrary.org/obo/NCIT_C129724
'suppurative thyroiditis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C129724
http://purl.obolibrary.org/obo/GARD_0001280
http://purl.obolibrary.org/obo/GARD_0001280 EquivalentTo 'primary sclerosing cholangitis'
http://purl.obolibrary.org/obo/UBERON_0001359
http://purl.obolibrary.org/obo/NCIT_C3441
'voice disorders' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3441
http://purl.obolibrary.org/obo/GARD_0001100
http://purl.obolibrary.org/obo/GARD_0001100 EquivalentTo 'Noonan syndrome with multiple lentigines'
http://purl.obolibrary.org/obo/NCIT_C97045
'Marchiafava-Bignami disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C97045
http://purl.obolibrary.org/obo/MESH_D065172
http://purl.obolibrary.org/obo/MESH_D065172 EquivalentTo 'ovarian ectopic pregnancy'
http://purl.obolibrary.org/obo/MESH_D065173
http://purl.obolibrary.org/obo/MESH_D065173 EquivalentTo 'pregnancy, cornual'
http://purl.obolibrary.org/obo/GARD_0001119
http://purl.obolibrary.org/obo/GARD_0001119 EquivalentTo 'Carney complex'
http://purl.obolibrary.org/obo/NCIT_C3496
'humoral hypercalcemia of malignancy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3496
http://purl.obolibrary.org/obo/NCIT_C97089
'inborn carbohydrate metabolic disorder' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C97089
http://purl.obolibrary.org/obo/NCBITaxon_6199
http://purl.obolibrary.org/obo/GARD_0001188
http://purl.obolibrary.org/obo/GARD_0001188 EquivalentTo 'cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome'
http://purl.obolibrary.org/obo/GARD_0001189
http://purl.obolibrary.org/obo/GARD_0001189 EquivalentTo 'cerebellar ataxia-ectodermal dysplasia syndrome'
http://purl.obolibrary.org/obo/GARD_0001199
http://purl.obolibrary.org/obo/GARD_0001199 EquivalentTo 'autosomal recessive spinocerebellar ataxia 2'
http://purl.obolibrary.org/obo/HP_0001153
http://purl.obolibrary.org/obo/GARD_0001194
http://purl.obolibrary.org/obo/GARD_0001194 EquivalentTo 'isolated cerebellar hypoplasia/agenesis'
http://purl.obolibrary.org/obo/GARD_0001195
http://purl.obolibrary.org/obo/GARD_0001195 EquivalentTo 'endosteal sclerosis-cerebellar hypoplasia syndrome'
http://purl.obolibrary.org/obo/GARD_0001133
http://purl.obolibrary.org/obo/GARD_0001133 EquivalentTo 'X-linked intellectual disability, Stocco dos Santos type'
http://purl.obolibrary.org/obo/GARD_0001130
http://purl.obolibrary.org/obo/GARD_0001130 EquivalentTo 'idiopathic chronic eosinophilic pneumonia'
http://purl.obolibrary.org/obo/SCTID_715852004
'digestive system infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_715852004
http://purl.obolibrary.org/obo/UBERON_0001384
http://purl.obolibrary.org/obo/GARD_0001145
http://purl.obolibrary.org/obo/GARD_0001145 EquivalentTo 'congenital cataract-ichthyosis syndrome'
http://purl.obolibrary.org/obo/GARD_0001140
http://purl.obolibrary.org/obo/GARD_0001140 EquivalentTo 'early-onset anterior polar cataract'
http://purl.obolibrary.org/obo/GARD_0001141
http://purl.obolibrary.org/obo/GARD_0001141 EquivalentTo 'cataract-ataxia-deafness syndrome'
http://purl.obolibrary.org/obo/NCIT_C3408
'thrombocytopenia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3408
http://purl.obolibrary.org/obo/GARD_0001146
http://purl.obolibrary.org/obo/GARD_0001146 EquivalentTo 'cataract 8 multiple types'
http://purl.obolibrary.org/obo/GARD_0001159
http://purl.obolibrary.org/obo/GARD_0001159 EquivalentTo 'total early-onset cataract'
http://purl.obolibrary.org/obo/MESH_D055732
http://purl.obolibrary.org/obo/MESH_D055732 EquivalentTo 'pulmonary aspergilloma'
http://purl.obolibrary.org/obo/GARD_0001167
http://purl.obolibrary.org/obo/GARD_0001167 EquivalentTo 'acrocardiofacial syndrome'
http://purl.obolibrary.org/obo/NCIT_C3421
'autosomal trisomy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3421
http://purl.obolibrary.org/obo/NCIT_C3425
'tumor lysis syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3425
http://purl.obolibrary.org/obo/MESH_D016107
http://purl.obolibrary.org/obo/MESH_D016107 EquivalentTo 'acquired epidermolysis bullosa'
http://purl.obolibrary.org/obo/GARD_0001094
http://purl.obolibrary.org/obo/GARD_0001094 EquivalentTo 'cardiac diverticulum (disease)'
http://purl.obolibrary.org/obo/GARD_0001093
http://purl.obolibrary.org/obo/GARD_0001093 EquivalentTo 'progressive familial heart block, type 1A'
http://purl.obolibrary.org/obo/SCTID_30731004
'glossodynia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_30731004
http://purl.obolibrary.org/obo/SCTID_473418001
'pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_473418001
http://purl.obolibrary.org/obo/MONDO_0022202
disseminated
'disseminated' SubClassOf 'disease characteristic'
http://purl.obolibrary.org/obo/NCIT_C63707
'osteoradionecrosis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C63707
http://www.orpha.net/ORDO/Orphanet_139184
'vitiligo-associated multiple autoimmune disease susceptibility 1' EquivalentTo http://www.orpha.net/ORDO/Orphanet_139184
http://purl.obolibrary.org/obo/SCTID_54675009
'Tracheobronchopathia osteochondroplastica' EquivalentTo http://purl.obolibrary.org/obo/SCTID_54675009
http://purl.obolibrary.org/obo/SCTID_68345001
'agnosia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_68345001
http://purl.obolibrary.org/obo/NCIT_C97193
'panic disorder without agoraphobia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C97193
http://purl.obolibrary.org/obo/NCIT_C97194
'panic disorder with agoraphobia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C97194
http://purl.obolibrary.org/obo/NCIT_C3319
'pericardial effusion (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3319
http://purl.obolibrary.org/obo/SCTID_26436007
'disorder of acid-base balance' EquivalentTo http://purl.obolibrary.org/obo/SCTID_26436007
http://purl.obolibrary.org/obo/NCIT_C97169
'cerebral palsy athetoid' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C97169
http://purl.obolibrary.org/obo/GARD_0001002
http://purl.obolibrary.org/obo/GARD_0001002 EquivalentTo 'X-linked mandibulofacial dysostosis'
http://purl.obolibrary.org/obo/NCIT_C3349
'radiodermatitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3349
http://purl.obolibrary.org/obo/NCIT_C3360
'ring chromosome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3360
http://purl.obolibrary.org/obo/NCIT_C3355
'rare respiratory tumor' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3355
http://purl.obolibrary.org/obo/NCIT_C3365
'sexually transmitted disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3365
http://purl.obolibrary.org/obo/SCTID_277623009
'nodal marginal zone B-cell lymphoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_277623009
http://purl.obolibrary.org/obo/GARD_0001049
http://purl.obolibrary.org/obo/GARD_0001049 EquivalentTo 'CADASIL'
http://purl.obolibrary.org/obo/GARD_0001057
http://purl.obolibrary.org/obo/GARD_0001057 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2A'
http://purl.obolibrary.org/obo/GARD_0001050
http://purl.obolibrary.org/obo/GARD_0001050 EquivalentTo 'neurofibromatosis type 6'
http://purl.obolibrary.org/obo/HP_0001010
http://purl.obolibrary.org/obo/GARD_0001051
http://purl.obolibrary.org/obo/GARD_0001051 EquivalentTo 'Caffey disease'
http://purl.obolibrary.org/obo/GARD_0001053
http://purl.obolibrary.org/obo/GARD_0001053 EquivalentTo 'limited cutaneous systemic sclerosis'
http://purl.obolibrary.org/obo/NCIT_C97110
'spinal cord disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C97110
http://purl.obolibrary.org/obo/GARD_0001058
http://purl.obolibrary.org/obo/GARD_0001058 EquivalentTo 'X-linked calvarial hyperostosis'
http://purl.obolibrary.org/obo/GARD_0001063
http://purl.obolibrary.org/obo/GARD_0001063 EquivalentTo 'idiopathic camptocormia'
http://purl.obolibrary.org/obo/GARD_0001064
http://purl.obolibrary.org/obo/GARD_0001064 EquivalentTo 'camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia'
http://purl.obolibrary.org/obo/GARD_0001069
http://purl.obolibrary.org/obo/GARD_0001069 EquivalentTo 'camptodactyly-taurinuria syndrome'
http://purl.obolibrary.org/obo/GARD_0001076
http://purl.obolibrary.org/obo/GARD_0001076 EquivalentTo 'disseminated candidiasis'
http://purl.obolibrary.org/obo/GARD_0001077
http://purl.obolibrary.org/obo/GARD_0001077 EquivalentTo 'predisposition to invasive fungal disease due to CARD9 deficiency'
http://purl.obolibrary.org/obo/GARD_0001078
http://purl.obolibrary.org/obo/GARD_0001078 EquivalentTo 'hypogonadism-mitral valve prolapse-intellectual disability syndrome'
http://purl.obolibrary.org/obo/GARD_0001072
http://purl.obolibrary.org/obo/GARD_0001072 EquivalentTo 'Camurati-Engelmann disease'
http://purl.obolibrary.org/obo/GARD_0001084
http://purl.obolibrary.org/obo/GARD_0001084 EquivalentTo 'capillary leak syndrome'
http://purl.obolibrary.org/obo/GARD_0001029
http://purl.obolibrary.org/obo/GARD_0001029 EquivalentTo 'Bruck syndrome 1'
http://purl.obolibrary.org/obo/GARD_0001025
http://purl.obolibrary.org/obo/GARD_0001025 EquivalentTo 'bronchogenic cyst (disease)'
http://purl.obolibrary.org/obo/GARD_0001033
http://purl.obolibrary.org/obo/GARD_0001033 EquivalentTo 'Bruton-type agammaglobulinemia'
http://purl.obolibrary.org/obo/GARD_0001030
http://purl.obolibrary.org/obo/GARD_0001030 EquivalentTo 'Brugada syndrome'
http://purl.obolibrary.org/obo/GARD_0001037
http://purl.obolibrary.org/obo/GARD_0001037 EquivalentTo 'primary basilar invagination'
http://purl.obolibrary.org/obo/GARD_0001039
http://purl.obolibrary.org/obo/GARD_0001039 EquivalentTo 'epidermolytic hyperkeratosis'
http://purl.obolibrary.org/obo/GARD_0001044
http://purl.obolibrary.org/obo/GARD_0001044 EquivalentTo 'Buschke-Ollendorff syndrome'
http://purl.obolibrary.org/obo/GARD_0001045
http://purl.obolibrary.org/obo/GARD_0001045 EquivalentTo 'Zlotogora-Ogur syndrome'
http://purl.obolibrary.org/obo/NCIT_C3396
'superior vena cava syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3396
http://purl.obolibrary.org/obo/SCTID_253186001
'Chiari malformation type 3' EquivalentTo http://purl.obolibrary.org/obo/SCTID_253186001
http://purl.obolibrary.org/obo/SCTID_247479008
'telangiectasis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_247479008
http://purl.obolibrary.org/obo/SCTID_13906002
'anaplasmosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_13906002
http://purl.obolibrary.org/obo/MESH_C565071
http://purl.obolibrary.org/obo/MESH_C565071 EquivalentTo 'echo virus 11 sensitivity'
http://purl.obolibrary.org/obo/SCTID_43476002
'non-syndromic brachydactyly' EquivalentTo http://purl.obolibrary.org/obo/SCTID_43476002
http://purl.obolibrary.org/obo/MESH_D055112
http://purl.obolibrary.org/obo/MESH_D055112 EquivalentTo 'pyometritis'
http://purl.obolibrary.org/obo/MESH_C565046
http://purl.obolibrary.org/obo/MESH_C565046 EquivalentTo 'multiple epiphyseal dysplasia, Beighton type'
http://purl.obolibrary.org/obo/GARD_0001799
http://purl.obolibrary.org/obo/GARD_0001799 EquivalentTo 'qualitative or quantitative defects of delta-sarcoglycan'
http://purl.obolibrary.org/obo/MESH_C565057
http://purl.obolibrary.org/obo/MESH_C565057 EquivalentTo 'emphysema, hereditary pulmonary'
http://purl.obolibrary.org/obo/SCTID_439960005
'binge eating disorder' EquivalentTo http://purl.obolibrary.org/obo/SCTID_439960005
http://purl.obolibrary.org/obo/MESH_C565054
http://purl.obolibrary.org/obo/MESH_C565054 EquivalentTo 'myeloproliferative disorder, chronic, with eosinophilia'
http://purl.obolibrary.org/obo/MESH_C531699
http://purl.obolibrary.org/obo/MESH_C531699 EquivalentTo 'hemoglobin c disease'
http://purl.obolibrary.org/obo/MESH_C531684
http://purl.obolibrary.org/obo/MESH_C531684 EquivalentTo 'hereditary ataxia'
http://purl.obolibrary.org/obo/NCIT_C14089
'Neu-Laxova syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C14089
http://purl.obolibrary.org/obo/SCTID_63363004
'superior vena cava syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_63363004
http://purl.obolibrary.org/obo/MESH_C531665
http://purl.obolibrary.org/obo/MESH_C531665 EquivalentTo 'dentin dysplasia type I'
http://purl.obolibrary.org/obo/MESH_C531667
http://purl.obolibrary.org/obo/MESH_C531667 EquivalentTo '5-fluorouracil poisoning'
http://purl.obolibrary.org/obo/MESH_C531664
http://purl.obolibrary.org/obo/MESH_C531664 EquivalentTo 'cystinuria type A'
http://purl.obolibrary.org/obo/MONDO_0042452
tertiary lesion of yaws
'tertiary lesion of yaws' EquivalentTo http://purl.obolibrary.org/obo/SCTID_88037009
'tertiary lesion of yaws' SubClassOf 'yaws'
http://purl.obolibrary.org/obo/MONDO_0042451
endomyometritis
'endomyometritis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_88027004
'endomyometritis' SubClassOf 'endometritis'
'endomyometritis' EquivalentTo 'disease or disorder' and ('disease HAS inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001295) and ('disease HAS inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001296)
'endomyometritis' SubClassOf 'pyometritis'
http://purl.obolibrary.org/obo/MESH_D006104
http://purl.obolibrary.org/obo/MESH_D006104 EquivalentTo 'inflammatory myofibroblastic tumor'
http://purl.obolibrary.org/obo/MONDO_0042458
Trichinella spiralis infectious disease
'Trichinella spiralis infectious disease' SubClassOf 'realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_6334
'Trichinella spiralis infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_88264003
'Trichinella spiralis infectious disease' SubClassOf 'Trichinellosis'
'Trichinella spiralis infectious disease' EquivalentTo 'disease or disorder' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_6334)
'Trichinella spiralis infectious disease' SubClassOf 'trichinosis'
http://purl.obolibrary.org/obo/MESH_D006130
http://purl.obolibrary.org/obo/MESH_D006130 EquivalentTo 'genetic endocrine growth disease'
http://purl.obolibrary.org/obo/MONDO_0042433
mycotic endocarditis
'mycotic endocarditis' EquivalentTo 'endocarditis (disease)' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_4751)
'mycotic endocarditis' SubClassOf 'infective endocarditis'
'mycotic endocarditis' SubClassOf 'fungal infectious disease'
'mycotic endocarditis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_86348002
http://purl.obolibrary.org/obo/MONDO_0042485
infective arthritis
'infective arthritis' EquivalentTo 'arthritis' and ('realized in response to stimulus' some 'infectious disease')
'infective arthritis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C26700
'infective arthritis' SubClassOf 'arthritis'
'infective arthritis' SubClassOf 'realized in response to stimulus' some 'infectious disease'
http://purl.obolibrary.org/obo/MONDO_0042486
polyposis syndrome, hereditary mixed, 1
'polyposis syndrome, hereditary mixed, 1' EquivalentTo http://purl.obolibrary.org/obo/OMIM_601228
'polyposis syndrome, hereditary mixed, 1' SubClassOf 'hereditary mixed polyposis syndrome'
http://purl.obolibrary.org/obo/MONDO_0042487
uterine cervix carcinoma in situ
'uterine cervix carcinoma in situ' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C4000
'uterine cervix carcinoma in situ' EquivalentTo 'in situ carcinoma' and ('disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0000002)
'uterine cervix carcinoma in situ' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254889004
'uterine cervix carcinoma in situ' SubClassOf 'cervical carcinoma'
http://purl.obolibrary.org/obo/COHD_194611 EquivalentTo 'uterine cervix carcinoma in situ'
http://linkedlifedata.com/resource/umls/id/C0851140 EquivalentTo 'uterine cervix carcinoma in situ'
'uterine cervix carcinoma in situ' SubClassOf 'uterus carcinoma in situ'
http://purl.obolibrary.org/obo/DOID_8991 EquivalentTo 'uterine cervix carcinoma in situ'
http://purl.obolibrary.org/obo/MESH_D018290 EquivalentTo 'uterine cervix carcinoma in situ'
http://purl.obolibrary.org/obo/MONDO_0042488
Cestode infectious disease
http://purl.obolibrary.org/obo/MESH_D002590 EquivalentTo 'Cestode infectious disease'
'Cestode infectious disease' SubClassOf 'helminthiasis'
'Cestode infectious disease' SubClassOf 'realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_6199
'Cestode infectious disease' EquivalentTo 'disease or disorder' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_6199)
'Cestode infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_86133004
'Cestode infectious disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001287
http://purl.obolibrary.org/obo/MONDO_0042484
disseminated sporotrichosis
'disseminated sporotrichosis' SubClassOf 'has modifier' some 'disseminated'
'disseminated sporotrichosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_91051003
'disseminated sporotrichosis' SubClassOf 'sporotrichosis'
'disseminated sporotrichosis' EquivalentTo 'sporotrichosis' and ('has modifier' some 'disseminated')
http://purl.obolibrary.org/obo/MESH_C531619
http://purl.obolibrary.org/obo/MESH_C531619 EquivalentTo 'Angelman syndrome'
http://purl.obolibrary.org/obo/MONDO_0042489
disease susceptibility
'disease susceptibility' SubClassOf 'disease or disorder'
http://purl.obolibrary.org/obo/MESH_D004198 EquivalentTo 'disease susceptibility'
http://purl.obolibrary.org/obo/MESH_C531617
http://purl.obolibrary.org/obo/MESH_C531617 EquivalentTo 'amyotrophic lateral sclerosis type 1'
http://purl.obolibrary.org/obo/MONDO_0042490
neutropenia, severe congenital, 1, autosomal dominant
'neutropenia, severe congenital, 1, autosomal dominant' SubClassOf 'autosomal dominant severe congenital neutropenia'
'neutropenia, severe congenital, 1, autosomal dominant' EquivalentTo http://purl.obolibrary.org/obo/OMIM_202700
http://purl.obolibrary.org/obo/MESH_C565969 EquivalentTo 'neutropenia, severe congenital, 1, autosomal dominant'
http://purl.obolibrary.org/obo/MONDO_0042491
cervical squamous intraepithelial neoplasia
http://purl.obolibrary.org/obo/MESH_D065310 EquivalentTo 'cervical squamous intraepithelial neoplasia'
'cervical squamous intraepithelial neoplasia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C7346
'cervical squamous intraepithelial neoplasia' SubClassOf 'squamous cell intraepithelial neoplasia'
'cervical squamous intraepithelial neoplasia' EquivalentTo 'squamous cell intraepithelial neoplasia' and ('disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0000002)
'cervical squamous intraepithelial neoplasia' SubClassOf 'uterine cervix neoplasm'
http://purl.obolibrary.org/obo/SCTID_45261009
'viral conjunctivitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_45261009
http://purl.obolibrary.org/obo/MONDO_0042496
ergotism
http://purl.obolibrary.org/obo/MESH_D004881 EquivalentTo 'ergotism'
'ergotism' SubClassOf 'mycotoxicosis'
'ergotism' EquivalentTo http://purl.obolibrary.org/obo/SCTID_51510002
http://purl.obolibrary.org/obo/GARD_0000196 EquivalentTo 'ergotism'
http://purl.obolibrary.org/obo/MONDO_0042497
mycotoxicosis
'mycotoxicosis' SubClassOf 'fungal infectious disease'
http://purl.obolibrary.org/obo/MESH_D015651 EquivalentTo 'mycotoxicosis'
'mycotoxicosis' EquivalentTo 'poisoning' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_4751)
'mycotoxicosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_26033009
'mycotoxicosis' SubClassOf 'poisoning'
http://purl.obolibrary.org/obo/MONDO_0042498
Ruzicka-Goerz-Anton syndrome
'Ruzicka-Goerz-Anton syndrome' SubClassOf 'ichthyosis (disease)'
http://purl.obolibrary.org/obo/GARD_0000210 EquivalentTo 'Ruzicka-Goerz-Anton syndrome'
http://purl.obolibrary.org/obo/MESH_C537192 EquivalentTo 'Ruzicka-Goerz-Anton syndrome'
'Ruzicka-Goerz-Anton syndrome' SubClassOf 'rare intellectual disability'
http://purl.obolibrary.org/obo/MONDO_0042499
benign familial neonatal-infantile seizures 1
http://purl.obolibrary.org/obo/GARD_0000856 EquivalentTo 'benign familial neonatal-infantile seizures 1'
'benign familial neonatal-infantile seizures 1' EquivalentTo http://purl.obolibrary.org/obo/OMIM_601764
'benign familial neonatal-infantile seizures 1' SubClassOf 'benign familial neonatal-infantile seizures'
http://purl.obolibrary.org/obo/MONDO_0042492
http://purl.obolibrary.org/obo/MONDO_0042493
gastric non-hodgkin lymphoma
http://purl.obolibrary.org/obo/GARD_0000089 EquivalentTo 'gastric non-hodgkin lymphoma'
'gastric non-hodgkin lymphoma' SubClassOf 'gastric lymphoma'
'gastric non-hodgkin lymphoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_448709005
'gastric non-hodgkin lymphoma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C27235
'gastric non-hodgkin lymphoma' SubClassOf 'non-Hodgkin lymphoma'
'gastric non-hodgkin lymphoma' EquivalentTo 'non-Hodgkin lymphoma' and ('disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0000945)
http://purl.obolibrary.org/obo/MONDO_0042494
childhood malignant melanoma
'childhood malignant melanoma' SubClassOf 'rare childhood malignant neoplasm'
http://purl.obolibrary.org/obo/GARD_0000091 EquivalentTo 'childhood malignant melanoma'
'childhood malignant melanoma' SubClassOf 'malignant endocrine neoplasm'
'childhood malignant melanoma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C131506
'childhood malignant melanoma' SubClassOf 'melanoma (disease)'
'childhood malignant melanoma' EquivalentTo 'melanoma (disease)' and ('has modifier' some http://purl.obolibrary.org/obo/HP_0011463)
http://purl.obolibrary.org/obo/MONDO_0042495
arteriosclerotic retinopathy
'arteriosclerotic retinopathy' SubClassOf 'arteriosclerosis disorder'
'arteriosclerotic retinopathy' SubClassOf 'eye degenerative disease'
'arteriosclerotic retinopathy' EquivalentTo 'arteriosclerosis disorder' and ('disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0000966)
http://purl.obolibrary.org/obo/GARD_0000113 EquivalentTo 'arteriosclerotic retinopathy'
'arteriosclerotic retinopathy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_95691008
'arteriosclerotic retinopathy' SubClassOf 'retinal vascular disease'
http://www.orpha.net/ORDO/Orphanet_183533
'genetic multiple congenital anomalies/dysmorphic syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_183533
http://purl.obolibrary.org/obo/SCTID_22149007
'rokitansky-aschoff sinuses of the gallbladder' EquivalentTo http://purl.obolibrary.org/obo/SCTID_22149007
http://purl.obolibrary.org/obo/GARD_0001738
http://purl.obolibrary.org/obo/GARD_0001738 EquivalentTo 'partial deletion of the long arm of chromosome 13'
http://purl.obolibrary.org/obo/GARD_0001735
http://purl.obolibrary.org/obo/GARD_0001735 EquivalentTo 'partial deletion of the long arm of chromosome 11'
http://purl.obolibrary.org/obo/GARD_0001732
http://purl.obolibrary.org/obo/GARD_0001732 EquivalentTo 'WAGR syndrome'
http://purl.obolibrary.org/obo/SCTID_57653000
'multiple organ failure' EquivalentTo http://purl.obolibrary.org/obo/SCTID_57653000
http://purl.obolibrary.org/obo/GARD_0001746
http://purl.obolibrary.org/obo/GARD_0001746 EquivalentTo 'partial deletion of the long arm of chromosome 15'
http://purl.obolibrary.org/obo/GARD_0001708
http://purl.obolibrary.org/obo/GARD_0001708 EquivalentTo 'autosomal dominant nonsyndromic deafness 23'
http://purl.obolibrary.org/obo/GARD_0001709
http://purl.obolibrary.org/obo/GARD_0001709 EquivalentTo 'mitochondrial non-syndromic sensorineural deafness'
http://purl.obolibrary.org/obo/GARD_0001707
http://purl.obolibrary.org/obo/GARD_0001707 EquivalentTo 'DFNX3'
http://purl.obolibrary.org/obo/GARD_0001715
http://purl.obolibrary.org/obo/GARD_0001715 EquivalentTo 'X-linked nonsyndromic deafness'
http://purl.obolibrary.org/obo/GARD_0001710
http://purl.obolibrary.org/obo/GARD_0001710 EquivalentTo 'autosomal recessive nonsyndromic deafness'
http://purl.obolibrary.org/obo/GARD_0001687
http://purl.obolibrary.org/obo/GARD_0001687 EquivalentTo 'deafness-enamel hypoplasia-nail defects syndrome'
http://purl.obolibrary.org/obo/GARD_0001688
http://purl.obolibrary.org/obo/GARD_0001688 EquivalentTo 'deafness-epiphyseal dysplasia-short stature syndrome'
http://purl.obolibrary.org/obo/GARD_0001694
http://purl.obolibrary.org/obo/GARD_0001694 EquivalentTo 'X-linked mixed deafness with perilymphatic gusher'
http://purl.obolibrary.org/obo/MESH_C565186
http://purl.obolibrary.org/obo/MESH_C565186 EquivalentTo 'AA2'
http://purl.obolibrary.org/obo/GARD_0011009
http://purl.obolibrary.org/obo/GARD_0011009 EquivalentTo 'chondrodysplasia with joint dislocations, gPAPP type'
http://purl.obolibrary.org/obo/GO_0001843
http://purl.obolibrary.org/obo/MESH_C565199
http://purl.obolibrary.org/obo/MESH_C565199 EquivalentTo 'SHFLD2'
http://purl.obolibrary.org/obo/MESH_C565158
http://purl.obolibrary.org/obo/MESH_C565158 EquivalentTo 'cornea plana 1, autosomal dominant'
http://purl.obolibrary.org/obo/GARD_0001654
http://purl.obolibrary.org/obo/GARD_0001654 EquivalentTo 'familial aortic dissection'
http://purl.obolibrary.org/obo/GARD_0001669
http://purl.obolibrary.org/obo/GARD_0001669 EquivalentTo 'Dandy-Walker malformation-postaxial polydactyly syndrome'
http://purl.obolibrary.org/obo/GARD_0001666
http://purl.obolibrary.org/obo/GARD_0001666 EquivalentTo 'hydrocephaly-tall stature-joint laxity syndrome'
http://purl.obolibrary.org/obo/GARD_0001671
http://purl.obolibrary.org/obo/GARD_0001671 EquivalentTo 'multinodular goiter-cystic kidney-polydactyly syndrome'
http://purl.obolibrary.org/obo/MESH_C565162
http://purl.obolibrary.org/obo/MESH_C565162 EquivalentTo 'FEB1'
http://purl.obolibrary.org/obo/GARD_0011000
http://purl.obolibrary.org/obo/GARD_0011000 EquivalentTo 'constitutional megaloblastic anemia with severe neurologic disease'
http://purl.obolibrary.org/obo/NCIT_C3959
'hepatobiliary disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3959
http://purl.obolibrary.org/obo/NCIT_C38145
'Crouzon syndrome-acanthosis nigricans syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C38145
http://purl.obolibrary.org/obo/MESH_C565133
http://purl.obolibrary.org/obo/MESH_C565133 EquivalentTo 'pulverulent cataract'
http://purl.obolibrary.org/obo/MONDO_0042370
Yersinia enterocolitica infectious disease
'Yersinia enterocolitica infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_80960004
'Yersinia enterocolitica infectious disease' SubClassOf 'realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_630
'Yersinia enterocolitica infectious disease' EquivalentTo 'infectious disease' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_630)
'Yersinia enterocolitica infectious disease' SubClassOf 'Yersinia infectious disease'
http://purl.obolibrary.org/obo/MESH_C531777
http://purl.obolibrary.org/obo/MESH_C531777 EquivalentTo 'sympathetic paraganglioma'
http://purl.obolibrary.org/obo/MESH_C531754
http://purl.obolibrary.org/obo/MESH_C531754 EquivalentTo 'Nelson syndrome'
http://purl.obolibrary.org/obo/MESH_C531742
http://purl.obolibrary.org/obo/MESH_C531742 EquivalentTo 'marfanoid hypermobility syndrome'
http://purl.obolibrary.org/obo/GARD_0001608
http://purl.obolibrary.org/obo/GARD_0001608 EquivalentTo 'creatine transporter deficiency'
http://purl.obolibrary.org/obo/GARD_0001613
http://purl.obolibrary.org/obo/GARD_0001613 EquivalentTo 'exudative vitreoretinopathy'
http://purl.obolibrary.org/obo/GARD_0001614
http://purl.obolibrary.org/obo/GARD_0001614 EquivalentTo 'cataract-nephropathy-encephalopathy syndrome'
http://purl.obolibrary.org/obo/GARD_0001611
http://purl.obolibrary.org/obo/GARD_0001611 EquivalentTo 'Crisponi syndrome'
http://purl.obolibrary.org/obo/GARD_0001626
http://purl.obolibrary.org/obo/GARD_0001626 EquivalentTo 'Currarino triad'
http://purl.obolibrary.org/obo/GARD_0001620
http://purl.obolibrary.org/obo/GARD_0001620 EquivalentTo 'cryptogenic organizing pneumonia'
http://purl.obolibrary.org/obo/GARD_0001638
http://purl.obolibrary.org/obo/GARD_0001638 EquivalentTo 'autosomal recessive cutis laxa type 2, classic type'
http://purl.obolibrary.org/obo/GARD_0001633
http://purl.obolibrary.org/obo/GARD_0001633 EquivalentTo 'cutaneous photosensitivity-lethal colitis syndrome'
http://purl.obolibrary.org/obo/SCTID_363373004
'lower lip cancer' EquivalentTo http://purl.obolibrary.org/obo/SCTID_363373004
http://purl.obolibrary.org/obo/SCTID_718124006
'fatal infantile encephalocardiomyopathy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_718124006
http://purl.obolibrary.org/obo/GARD_0001578
http://purl.obolibrary.org/obo/GARD_0001578 EquivalentTo 'craniofrontonasal syndrome'
http://purl.obolibrary.org/obo/GARD_0001582
http://purl.obolibrary.org/obo/GARD_0001582 EquivalentTo 'craniometaphyseal dysplasia, autosomal recessive'
http://purl.obolibrary.org/obo/GARD_0001581
http://purl.obolibrary.org/obo/GARD_0001581 EquivalentTo 'craniometaphyseal dysplasia, autosomal dominant'
http://purl.obolibrary.org/obo/GARD_0001529
http://purl.obolibrary.org/obo/GARD_0001529 EquivalentTo 'corneal dystrophy-perceptive deafness syndrome'
http://purl.obolibrary.org/obo/GARD_0001525
http://purl.obolibrary.org/obo/GARD_0001525 EquivalentTo 'corneal-cerebellar syndrome'
http://purl.obolibrary.org/obo/UBERON_0001798
http://purl.obolibrary.org/obo/GARD_0001535
http://purl.obolibrary.org/obo/GARD_0001535 EquivalentTo 'corpus callosum, agenesis of'
http://purl.obolibrary.org/obo/GARD_0001537
http://purl.obolibrary.org/obo/GARD_0001537 EquivalentTo 'agenesis of the corpus callosum with peripheral neuropathy'
http://purl.obolibrary.org/obo/GARD_0001531
http://purl.obolibrary.org/obo/GARD_0001531 EquivalentTo 'Stern-Lubinsky-Durrie syndrome'
http://purl.obolibrary.org/obo/GARD_0001532
http://purl.obolibrary.org/obo/GARD_0001532 EquivalentTo 'coronal synostosis, syndactyly and jejunal atresia'
http://purl.obolibrary.org/obo/GARD_0001533
http://purl.obolibrary.org/obo/GARD_0001533 EquivalentTo 'coronary arterial fistulas'
http://purl.obolibrary.org/obo/SCTID_82319005
'acyl-CoA dehydrogenase deficiency' EquivalentTo http://purl.obolibrary.org/obo/SCTID_82319005
http://purl.obolibrary.org/obo/GARD_0001553
http://purl.obolibrary.org/obo/GARD_0001553 EquivalentTo 'Tricho-oculo-dermo-vertebral syndrome'
http://purl.obolibrary.org/obo/GARD_0001555
http://purl.obolibrary.org/obo/GARD_0001555 EquivalentTo 'pelviscapular dysplasia'
http://purl.obolibrary.org/obo/MESH_D006390
http://purl.obolibrary.org/obo/MESH_D006390 EquivalentTo 'hemangioendothelioma'
http://purl.obolibrary.org/obo/NCIT_C3836
'infertility disorder' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3836
http://purl.obolibrary.org/obo/MESH_D031368
http://purl.obolibrary.org/obo/MESH_D031368 EquivalentTo 'zoster sine herpete'
http://purl.obolibrary.org/obo/SCTID_92056006
'cervical benign neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_92056006
http://purl.obolibrary.org/obo/SCTID_281561000
'sacrococcygeal teratoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_281561000
http://purl.obolibrary.org/obo/NCIT_C3895
'MHC class II deficiency' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3895
http://purl.obolibrary.org/obo/NCIT_C3899
'Hantavirus infectious disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3899
http://purl.obolibrary.org/obo/NCIT_C115221
'hemorrhagic disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C115221
http://purl.obolibrary.org/obo/MESH_D006311
http://purl.obolibrary.org/obo/MESH_D006311 EquivalentTo 'hearing disorder'
http://purl.obolibrary.org/obo/MESH_D006317
http://purl.obolibrary.org/obo/MESH_D006317 EquivalentTo 'noise induced hearing loss'
http://www.orpha.net/ORDO/Orphanet_120184
'hypertrophic cardiomyopathy 7' EquivalentTo http://www.orpha.net/ORDO/Orphanet_120184
http://www.orpha.net/ORDO/Orphanet_120169
'immunoglobulin a deficiency 2' EquivalentTo http://www.orpha.net/ORDO/Orphanet_120169
http://purl.obolibrary.org/obo/MONDO_0042233
disseminated candidiasis
'disseminated candidiasis' SubClassOf 'has modifier' some 'disseminated'
'disseminated candidiasis' EquivalentTo 'candidiasis' and ('has modifier' some 'disseminated')
http://purl.obolibrary.org/obo/GARD_0001076 EquivalentTo 'disseminated candidiasis'
'disseminated candidiasis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_70572005
'disseminated candidiasis' SubClassOf 'candidiasis'
http://purl.obolibrary.org/obo/GARD_0001503
http://purl.obolibrary.org/obo/GARD_0001503 EquivalentTo 'femoral agenesis/hypoplasia'
http://purl.obolibrary.org/obo/GARD_0001518
http://purl.obolibrary.org/obo/GARD_0001518 EquivalentTo 'benign familial neonatal-infantile seizures'
http://purl.obolibrary.org/obo/GARD_0001519
http://purl.obolibrary.org/obo/GARD_0001519 EquivalentTo 'seizures, benign familial neonatal, autosomal recessive'
http://purl.obolibrary.org/obo/GARD_0001515
http://purl.obolibrary.org/obo/GARD_0001515 EquivalentTo 'contractures-ectodermal dysplasia-cleft lip/palate syndrome'
http://purl.obolibrary.org/obo/GARD_0001516
http://purl.obolibrary.org/obo/GARD_0001516 EquivalentTo 'lethal restrictive dermopathy'
http://purl.obolibrary.org/obo/SCTID_95330001
'linear IgA dermatosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_95330001
http://purl.obolibrary.org/obo/GARD_0001443
http://purl.obolibrary.org/obo/GARD_0001443 EquivalentTo 'anophthalmia/microphthalmia-esophageal atresia syndrome'
http://purl.obolibrary.org/obo/GARD_0001446
http://purl.obolibrary.org/obo/GARD_0001446 EquivalentTo 'colonic atresia (disease)'
http://purl.obolibrary.org/obo/GARD_0001460
http://purl.obolibrary.org/obo/GARD_0001460 EquivalentTo 'conductive deafness-malformed external ear syndrome'
http://purl.obolibrary.org/obo/SCTID_715337002
'congenital herpes virus infection' EquivalentTo http://purl.obolibrary.org/obo/SCTID_715337002
http://purl.obolibrary.org/obo/SCTID_439455002
'factor XIII, A subunit, deficiency of' EquivalentTo http://purl.obolibrary.org/obo/SCTID_439455002
http://purl.obolibrary.org/obo/GARD_0001469
http://purl.obolibrary.org/obo/GARD_0001469 EquivalentTo 'congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency'
http://purl.obolibrary.org/obo/GARD_0001465
http://purl.obolibrary.org/obo/GARD_0001465 EquivalentTo 'congenital lipoid adrenal hyperplasia due to STAR deficency'
http://purl.obolibrary.org/obo/GARD_0001467
http://purl.obolibrary.org/obo/GARD_0001467 EquivalentTo 'congenital adrenal hyperplasia'
http://purl.obolibrary.org/obo/NCIT_C129933
'lateral sclerosis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C129933
http://purl.obolibrary.org/obo/GARD_0001481
http://purl.obolibrary.org/obo/GARD_0001481 EquivalentTo 'congenital diaphragmatic hernia'
http://purl.obolibrary.org/obo/GARD_0001410
http://purl.obolibrary.org/obo/GARD_0001410 EquivalentTo 'Joubert syndrome with hepatic defect'
http://purl.obolibrary.org/obo/GARD_0001413
http://purl.obolibrary.org/obo/GARD_0001413 EquivalentTo 'cocaine embryofetopathy'
http://purl.obolibrary.org/obo/GARD_0001420
http://purl.obolibrary.org/obo/GARD_0001420 EquivalentTo 'Cockayne syndrome type 2'
http://purl.obolibrary.org/obo/UBERON_0001673
http://purl.obolibrary.org/obo/GARD_0001425
http://purl.obolibrary.org/obo/GARD_0001425 EquivalentTo 'Cole-Carpenter syndrome'
http://purl.obolibrary.org/obo/GARD_0001421
http://purl.obolibrary.org/obo/GARD_0001421 EquivalentTo 'Cogan syndrome'
http://purl.obolibrary.org/obo/GARD_0001436
http://purl.obolibrary.org/obo/GARD_0001436 EquivalentTo 'coloboma of macula'
http://purl.obolibrary.org/obo/GARD_0001437
http://purl.obolibrary.org/obo/GARD_0001437 EquivalentTo 'coloboma of macula-brachydactyly type B syndrome'
http://purl.obolibrary.org/obo/GARD_0001438
http://purl.obolibrary.org/obo/GARD_0001438 EquivalentTo 'coloboma of optic disc'
http://purl.obolibrary.org/obo/GARD_0001432
http://purl.obolibrary.org/obo/GARD_0001432 EquivalentTo 'coloboma of choroid and retina'
http://purl.obolibrary.org/obo/GARD_0001434
http://purl.obolibrary.org/obo/GARD_0001434 EquivalentTo 'coloboma of iris (disease)'
http://purl.obolibrary.org/obo/GARD_0001440
http://purl.obolibrary.org/obo/GARD_0001440 EquivalentTo 'uveal coloboma-cleft lip and palate-intellectual disability'
http://purl.obolibrary.org/obo/SCTID_418040002
'littoral cell angioma of the spleen' EquivalentTo http://purl.obolibrary.org/obo/SCTID_418040002
http://purl.obolibrary.org/obo/NCIT_C3722
'oral hairy leukoplakia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3722
http://purl.obolibrary.org/obo/NCIT_C63324
'engraftment syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C63324
http://purl.obolibrary.org/obo/GARD_0001487
http://purl.obolibrary.org/obo/GARD_0001487 EquivalentTo 'congenital hypothyroidism'
http://purl.obolibrary.org/obo/GARD_0001496
http://purl.obolibrary.org/obo/GARD_0001496 EquivalentTo 'congenital mitral stenosis (disease)'
http://purl.obolibrary.org/obo/NCIT_C130989
'X-linked central congenital hypothyroidism with late-onset testicular enlargement' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C130989
http://purl.obolibrary.org/obo/NCIT_C130982
'distal monosomy 10p' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C130982
http://purl.obolibrary.org/obo/MESH_C531598
http://purl.obolibrary.org/obo/MESH_C531598 EquivalentTo 'familial acanthosis nigricans'
http://purl.obolibrary.org/obo/NCIT_C3825
'pseudolymphoma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3825
http://purl.obolibrary.org/obo/NCIT_C38408
'progressive transformation of germinal centers' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C38408
http://purl.obolibrary.org/obo/NCIT_C101253
'aortic disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C101253
http://purl.obolibrary.org/obo/SCTID_254864005
'ovarian thecoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254864005
http://purl.obolibrary.org/obo/SCTID_237072009
'endometrial hyperplasia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_237072009
http://purl.obolibrary.org/obo/SCTID_274903001
'adnexal spiradenoma/cylindroma of a sweat gland' EquivalentTo http://purl.obolibrary.org/obo/SCTID_274903001
http://purl.obolibrary.org/obo/SCTID_238525001
'polymorphic light eruption' EquivalentTo http://purl.obolibrary.org/obo/SCTID_238525001
http://www.ebi.ac.uk/efo/EFO_0003959
'cleft lip (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003959
http://purl.obolibrary.org/obo/MESH_C565454
http://purl.obolibrary.org/obo/MESH_C565454 EquivalentTo 'hereditary palmoplantar keratoderma, Gamborg-Nielsen type'
http://www.ebi.ac.uk/efo/EFO_0003880
'appendiceal neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003880
http://www.ebi.ac.uk/efo/EFO_0003873
'parotid gland neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003873
http://www.ebi.ac.uk/efo/EFO_0003871
'tongue neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003871
http://purl.obolibrary.org/obo/SCTID_238770007
'intravascular papillary endothelial hyperplasia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_238770007
http://purl.obolibrary.org/obo/MESH_C565404
http://purl.obolibrary.org/obo/MESH_C565404 EquivalentTo 'mesomelic dwarfism-cleft palate-camptodactyly syndrome'
http://www.ebi.ac.uk/efo/EFO_0003897
'gastric neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003897
http://purl.obolibrary.org/obo/SCTID_4414005
'setariasis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_4414005
http://www.orpha.net/ORDO/Orphanet_168347
'autoimmune thyroid disease, susceptibility to, 3' EquivalentTo http://www.orpha.net/ORDO/Orphanet_168347
http://purl.obolibrary.org/obo/SCTID_805002
'silicosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_805002
http://purl.obolibrary.org/obo/HP_0001607
http://purl.obolibrary.org/obo/SCTID_64613007
'enteritis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_64613007
http://purl.obolibrary.org/obo/MESH_D011855
http://purl.obolibrary.org/obo/MESH_D011855 EquivalentTo 'radiodermatitis'
http://purl.obolibrary.org/obo/NCIT_C53316
'macrocystic lymphatic malformation' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C53316
http://www.ebi.ac.uk/efo/EFO_0003826
'tumor of salivary gland' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003826
http://www.ebi.ac.uk/efo/EFO_0003817
'laryngeal neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003817
http://www.ebi.ac.uk/efo/EFO_0003841
'thyroid tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003841
http://purl.obolibrary.org/obo/MESH_C565545
http://purl.obolibrary.org/obo/MESH_C565545 EquivalentTo 'glutathione synthetase deficiency without 5-oxoprolinuria'
http://www.ebi.ac.uk/efo/EFO_0003844
'ureter neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003844
http://purl.obolibrary.org/obo/NCIT_C92945
'ovarian ectopic pregnancy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C92945
http://purl.obolibrary.org/obo/NCIT_C92946
'tubal pregnancy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C92946
http://www.ebi.ac.uk/efo/EFO_0003846
'urethra neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003846
http://www.ebi.ac.uk/efo/EFO_0003847
'intellectual disability' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003847
http://www.ebi.ac.uk/efo/EFO_0003835
'anus neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003835
http://purl.obolibrary.org/obo/MESH_C565564
http://purl.obolibrary.org/obo/MESH_C565564 EquivalentTo 'familial benign flecked retina'
http://www.ebi.ac.uk/efo/EFO_0003863
'urogenital neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003863
http://www.ebi.ac.uk/efo/EFO_0003860
'pancreatic neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003860
http://purl.obolibrary.org/obo/NCIT_C92921
'abdominal ectopic pregnancy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C92921
http://www.ebi.ac.uk/efo/EFO_0003868
'oral cavity neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003868
http://www.ebi.ac.uk/efo/EFO_0003869
'breast neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003869
http://www.ebi.ac.uk/efo/EFO_0003850
'adrenal gland neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003850
http://www.ebi.ac.uk/efo/EFO_0003859
'tumor of uterus' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003859
http://purl.obolibrary.org/obo/MESH_D011832
http://purl.obolibrary.org/obo/MESH_D011832 EquivalentTo 'radiation injury'
http://purl.obolibrary.org/obo/MESH_C565518
http://purl.obolibrary.org/obo/MESH_C565518 EquivalentTo 'Hirschsprung disease-deafness-polydactyly syndrome'
http://purl.obolibrary.org/obo/MESH_C565529
http://purl.obolibrary.org/obo/MESH_C565529 EquivalentTo 'lipodystrophy due to peptidic growth factors deficiency'
http://purl.obolibrary.org/obo/SCTID_75023009
'post-traumatic epilepsy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_75023009
http://www.ebi.ac.uk/efo/EFO_0003774
'hyperlipidemia (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003774
http://purl.obolibrary.org/obo/SCTID_186973005
'latent yaws' EquivalentTo http://purl.obolibrary.org/obo/SCTID_186973005
http://purl.obolibrary.org/obo/MESH_D021183
http://purl.obolibrary.org/obo/MESH_D021183 EquivalentTo 'peanut allergic reaction'
http://purl.obolibrary.org/obo/MESH_D021182
http://purl.obolibrary.org/obo/MESH_D021182 EquivalentTo 'wheat allergic disease'
http://purl.obolibrary.org/obo/SCTID_40278002
'essential fructosuria' EquivalentTo http://purl.obolibrary.org/obo/SCTID_40278002
http://purl.obolibrary.org/obo/NCIT_C101024
'colonic atresia (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C101024
http://purl.obolibrary.org/obo/UBERON_0011595
http://purl.obolibrary.org/obo/MESH_C565260
http://purl.obolibrary.org/obo/MESH_C565260 EquivalentTo 'MNG3'
http://purl.obolibrary.org/obo/SCTID_403975006
'lymphangioendothelioma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_403975006
http://purl.obolibrary.org/obo/MESH_C565284
http://purl.obolibrary.org/obo/MESH_C565284 EquivalentTo 'generalized basaloid follicular hamartoma syndrome'
http://purl.obolibrary.org/obo/MESH_C565297
http://purl.obolibrary.org/obo/MESH_C565297 EquivalentTo 'EVR3'
http://purl.obolibrary.org/obo/MESH_C565227
http://purl.obolibrary.org/obo/MESH_C565227 EquivalentTo 'GEFSP4'
http://purl.obolibrary.org/obo/MESH_C565229
http://purl.obolibrary.org/obo/MESH_C565229 EquivalentTo 'AAA2'
http://purl.obolibrary.org/obo/SCTID_417006004
'twin reversal arterial perfusion syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_417006004
http://purl.obolibrary.org/obo/MESH_C565237
http://purl.obolibrary.org/obo/MESH_C565237 EquivalentTo 'HTX3'
http://purl.obolibrary.org/obo/MESH_C565240
http://purl.obolibrary.org/obo/MESH_C565240 EquivalentTo 'PDB4'
http://purl.obolibrary.org/obo/MESH_C565208
http://purl.obolibrary.org/obo/MESH_C565208 EquivalentTo 'IHPS2'
http://purl.obolibrary.org/obo/MESH_C565202
http://purl.obolibrary.org/obo/MESH_C565202 EquivalentTo 'MYP14'
http://purl.obolibrary.org/obo/MESH_C565204
http://purl.obolibrary.org/obo/MESH_C565204 EquivalentTo 'Parkinson disease 13, autosomal dominant, susceptibility to'
http://purl.obolibrary.org/obo/SCTID_715528001
'cochleosaccular degeneration-cataract syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_715528001
http://purl.obolibrary.org/obo/MESH_C565216
http://purl.obolibrary.org/obo/MESH_C565216 EquivalentTo 'synpolydactyly type 3'
http://purl.obolibrary.org/obo/MESH_C579849
http://purl.obolibrary.org/obo/MESH_C579849 EquivalentTo 'chromosome 15q24 deletion syndrome'
http://purl.obolibrary.org/obo/MESH_C531857
http://purl.obolibrary.org/obo/MESH_C531857 EquivalentTo 'peroxisome biogenesis disorder'
http://purl.obolibrary.org/obo/MESH_C531854
http://purl.obolibrary.org/obo/MESH_C531854 EquivalentTo 'lysosomal acid lipase deficiency'
http://purl.obolibrary.org/obo/MESH_C531844
http://purl.obolibrary.org/obo/MESH_C531844 EquivalentTo 'hereditary von Willebrand disease'
http://purl.obolibrary.org/obo/GARD_0001907
http://purl.obolibrary.org/obo/GARD_0001907 EquivalentTo 'double outlet left ventricle (disease)'
http://purl.obolibrary.org/obo/GARD_0001908
http://purl.obolibrary.org/obo/GARD_0001908 EquivalentTo 'double outlet right ventricle'
http://purl.obolibrary.org/obo/GARD_0001902
http://purl.obolibrary.org/obo/GARD_0001902 EquivalentTo 'autosomal recessive dopa-responsive dystonia'
http://purl.obolibrary.org/obo/GARD_0001904
http://purl.obolibrary.org/obo/GARD_0001904 EquivalentTo 'subcortical band heterotopia'
http://purl.obolibrary.org/obo/PATO_0001673
http://purl.obolibrary.org/obo/HP_0001941
http://www.orpha.net/ORDO/Orphanet_398416
'giant papillary conjunctivitis' EquivalentTo http://www.orpha.net/ORDO/Orphanet_398416
http://purl.obolibrary.org/obo/SCTID_442696006
'swine influenza' EquivalentTo http://purl.obolibrary.org/obo/SCTID_442696006
http://www.orpha.net/ORDO/Orphanet_120579
'sexually transmitted disease' EquivalentTo http://www.orpha.net/ORDO/Orphanet_120579
http://www.orpha.net/ORDO/Orphanet_119576
'hyperthyroxinemia' EquivalentTo http://www.orpha.net/ORDO/Orphanet_119576
http://purl.obolibrary.org/obo/SCTID_34004002
'silicosiderosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_34004002
http://purl.obolibrary.org/obo/SCTID_126865007
'peritoneal neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_126865007
http://purl.obolibrary.org/obo/GARD_0001999
http://purl.obolibrary.org/obo/GARD_0001999 EquivalentTo 'congenital dyserythropoietic anemia'
http://purl.obolibrary.org/obo/HP_0001959
http://purl.obolibrary.org/obo/GARD_0001993
http://purl.obolibrary.org/obo/GARD_0001993 EquivalentTo 'ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome'
http://purl.obolibrary.org/obo/GARD_0001929
http://purl.obolibrary.org/obo/GARD_0001929 EquivalentTo 'partial duplication of the long arm of chromosome 13'
http://purl.obolibrary.org/obo/GARD_0001926
http://purl.obolibrary.org/obo/GARD_0001926 EquivalentTo 'partial duplication of the long arm of chromosome 12'
http://purl.obolibrary.org/obo/GARD_0001923
http://purl.obolibrary.org/obo/GARD_0001923 EquivalentTo 'partial duplication of the long arm of chromosome 11'
http://purl.obolibrary.org/obo/ICD10_G51.4
http://purl.obolibrary.org/obo/ICD10_G51.4 EquivalentTo 'isolated facial myokymia'
http://purl.obolibrary.org/obo/MESH_D045463
http://purl.obolibrary.org/obo/MESH_D045463 EquivalentTo 'Avulavirus infectious disease'
http://purl.obolibrary.org/obo/MESH_D045464
http://purl.obolibrary.org/obo/MESH_D045464 EquivalentTo 'Henipavirus infectious disease'
http://purl.obolibrary.org/obo/GARD_0001887
http://purl.obolibrary.org/obo/GARD_0001887 EquivalentTo 'distal myopathy with vocal cord weakness'
http://purl.obolibrary.org/obo/GARD_0001886
http://purl.obolibrary.org/obo/GARD_0001886 EquivalentTo 'myofibrillar myopathy 4'
http://purl.obolibrary.org/obo/GARD_0001894
http://purl.obolibrary.org/obo/GARD_0001894 EquivalentTo 'von Voss-Cherstvoy syndrome'
http://purl.obolibrary.org/obo/GARD_0001897
http://purl.obolibrary.org/obo/GARD_0001897 EquivalentTo 'autosomal dominant ichthyosis vulgaris'
http://purl.obolibrary.org/obo/SCTID_719848005
'alcohol-induced disorders' EquivalentTo http://purl.obolibrary.org/obo/SCTID_719848005
http://purl.obolibrary.org/obo/MESH_C565343
http://purl.obolibrary.org/obo/MESH_C565343 EquivalentTo 'OPA4'
http://purl.obolibrary.org/obo/MESH_C565372
http://purl.obolibrary.org/obo/MESH_C565372 EquivalentTo 'sulfite oxidase deficiency due to molybdenum cofactor deficiency type A'
http://purl.obolibrary.org/obo/MESH_C565373
http://purl.obolibrary.org/obo/MESH_C565373 EquivalentTo 'sulfite oxidase deficiency due to molybdenum cofactor deficiency type B'
http://purl.obolibrary.org/obo/MESH_C565374
http://purl.obolibrary.org/obo/MESH_C565374 EquivalentTo 'sulfite oxidase deficiency due to molybdenum cofactor deficiency type C'
http://purl.obolibrary.org/obo/MESH_C565302
http://purl.obolibrary.org/obo/MESH_C565302 EquivalentTo 'OTSC2'
http://purl.obolibrary.org/obo/MESH_C565304
http://purl.obolibrary.org/obo/MESH_C565304 EquivalentTo 'fatal multiple mitochondrial dysfunctions syndrome'
http://purl.obolibrary.org/obo/MESH_C565328
http://purl.obolibrary.org/obo/MESH_C565328 EquivalentTo 'radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome'
http://purl.obolibrary.org/obo/MESH_C565336
http://purl.obolibrary.org/obo/MESH_C565336 EquivalentTo 'BRCA3'
http://purl.obolibrary.org/obo/SCTID_50749006
'47,XYY syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_50749006
http://purl.obolibrary.org/obo/SCTID_6183001
'cirrhosis, familial' EquivalentTo http://purl.obolibrary.org/obo/SCTID_6183001
http://purl.obolibrary.org/obo/SCTID_239031000
'orofaciodigital syndrome IV' EquivalentTo http://purl.obolibrary.org/obo/SCTID_239031000
http://purl.obolibrary.org/obo/SCTID_715239002
'sudden sensorineural hearing loss' EquivalentTo http://purl.obolibrary.org/obo/SCTID_715239002
http://purl.obolibrary.org/obo/SCTID_16685009
'secondary adrenal insufficiency' EquivalentTo http://purl.obolibrary.org/obo/SCTID_16685009
http://purl.obolibrary.org/obo/SCTID_35111009
'trisomy X' EquivalentTo http://purl.obolibrary.org/obo/SCTID_35111009
http://purl.obolibrary.org/obo/GARD_0001850
http://purl.obolibrary.org/obo/GARD_0001850 EquivalentTo 'immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome'
http://purl.obolibrary.org/obo/GARD_0001851
http://purl.obolibrary.org/obo/GARD_0001851 EquivalentTo 'diastematomyelia'
http://purl.obolibrary.org/obo/SCTID_191260004
'pyridoxine-responsive sideroblastic anemia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_191260004
http://purl.obolibrary.org/obo/GARD_0001862
http://purl.obolibrary.org/obo/GARD_0001862 EquivalentTo 'palmoplantar keratoderma, Bothnian type'
http://purl.obolibrary.org/obo/GARD_0001876
http://purl.obolibrary.org/obo/GARD_0001876 EquivalentTo 'diprosopus'
http://purl.obolibrary.org/obo/GARD_0001878
http://purl.obolibrary.org/obo/GARD_0001878 EquivalentTo 'chromosome 1, uniparental disomy 1q12 q21'
http://purl.obolibrary.org/obo/GARD_0001874
http://purl.obolibrary.org/obo/GARD_0001874 EquivalentTo 'hemolytic anemia due to diphosphoglycerate mutase deficiency'
http://purl.obolibrary.org/obo/GARD_0001808
http://purl.obolibrary.org/obo/GARD_0001808 EquivalentTo 'dentin dysplasia-sclerotic bones syndrome'
http://purl.obolibrary.org/obo/GARD_0001806
http://purl.obolibrary.org/obo/GARD_0001806 EquivalentTo 'dentin dysplasia type II'
http://purl.obolibrary.org/obo/GARD_0001818
http://purl.obolibrary.org/obo/GARD_0001818 EquivalentTo 'Desbuquois dysplasia'
http://purl.obolibrary.org/obo/GARD_0001815
http://purl.obolibrary.org/obo/GARD_0001815 EquivalentTo 'Dermochondrocorneal dystrophy'
http://purl.obolibrary.org/obo/GARD_0001816
http://purl.obolibrary.org/obo/GARD_0001816 EquivalentTo 'dermo-odonto dysplasia'
http://purl.obolibrary.org/obo/GARD_0001827
http://purl.obolibrary.org/obo/GARD_0001827 EquivalentTo 'dextrocardia'
http://purl.obolibrary.org/obo/GARD_0001820
http://purl.obolibrary.org/obo/GARD_0001820 EquivalentTo 'desmoid tumor'
http://purl.obolibrary.org/obo/GARD_0001839
http://purl.obolibrary.org/obo/GARD_0001839 EquivalentTo 'transient neonatal diabetes mellitus (disease)'
http://purl.obolibrary.org/obo/NCIT_C125663
'Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C125663
http://purl.obolibrary.org/obo/NCIT_C125665
'creatine transporter deficiency' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C125665
http://purl.obolibrary.org/obo/SCTID_49483002
'mediastinal diseases' EquivalentTo http://purl.obolibrary.org/obo/SCTID_49483002
http://purl.obolibrary.org/obo/MESH_C564596
http://purl.obolibrary.org/obo/MESH_C564596 EquivalentTo 'cataract 27'
http://purl.obolibrary.org/obo/MESH_C564538
http://purl.obolibrary.org/obo/MESH_C564538 EquivalentTo 'anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome'
http://purl.obolibrary.org/obo/MESH_C564533
http://purl.obolibrary.org/obo/MESH_C564533 EquivalentTo 'MRX53'
http://purl.obolibrary.org/obo/GARD_0011925
http://purl.obolibrary.org/obo/GARD_0011925 EquivalentTo 'X-linked centronuclear myopathy'
http://purl.obolibrary.org/obo/GARD_0011927
http://purl.obolibrary.org/obo/GARD_0011927 EquivalentTo 'hereditary sensory neuropathy-deafness-dementia syndrome'
http://purl.obolibrary.org/obo/SCTID_234131004
'splenoportal vascular anomalies' EquivalentTo http://purl.obolibrary.org/obo/SCTID_234131004
http://purl.obolibrary.org/obo/MESH_C564546
http://purl.obolibrary.org/obo/MESH_C564546 EquivalentTo 'MNG2'
http://purl.obolibrary.org/obo/MESH_C564559
http://purl.obolibrary.org/obo/MESH_C564559 EquivalentTo 'TGCT1'
http://purl.obolibrary.org/obo/MESH_C564565
http://purl.obolibrary.org/obo/MESH_C564565 EquivalentTo 'EMWX'
http://purl.obolibrary.org/obo/SCTID_307592006
'acute basophilic leukemia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_307592006
http://purl.obolibrary.org/obo/MESH_C564501
http://purl.obolibrary.org/obo/MESH_C564501 EquivalentTo 'MRX84'
http://purl.obolibrary.org/obo/MESH_C564502
http://purl.obolibrary.org/obo/MESH_C564502 EquivalentTo 'MRX52'
http://purl.obolibrary.org/obo/MESH_C564515
http://purl.obolibrary.org/obo/MESH_C564515 EquivalentTo 'MRX81'
http://purl.obolibrary.org/obo/GARD_0011909
http://purl.obolibrary.org/obo/GARD_0011909 EquivalentTo 'engraftment syndrome'
http://purl.obolibrary.org/obo/MESH_C564511
http://purl.obolibrary.org/obo/MESH_C564511 EquivalentTo 'MRX77'
http://purl.obolibrary.org/obo/GARD_0011903
http://purl.obolibrary.org/obo/GARD_0011903 EquivalentTo 'immunodeficiency due to selective anti-polysaccharide antibody deficiency'
http://purl.obolibrary.org/obo/MESH_C564528
http://purl.obolibrary.org/obo/MESH_C564528 EquivalentTo 'MRX73'
http://purl.obolibrary.org/obo/MESH_D060487
http://purl.obolibrary.org/obo/MESH_D060487 EquivalentTo 'alternariosis'
http://purl.obolibrary.org/obo/MESH_C564524
http://purl.obolibrary.org/obo/MESH_C564524 EquivalentTo 'MRX42'
http://purl.obolibrary.org/obo/MESH_D060426
http://purl.obolibrary.org/obo/MESH_D060426 EquivalentTo 'anti-NMDA receptor encephalitis'
http://purl.obolibrary.org/obo/GARD_0011962
http://purl.obolibrary.org/obo/GARD_0011962 EquivalentTo 'familial partial lipodystrophy'
http://purl.obolibrary.org/obo/GARD_0011980
http://purl.obolibrary.org/obo/GARD_0011980 EquivalentTo 'hypomyelinating leukodystrophy 5'
http://purl.obolibrary.org/obo/GARD_0011972
http://purl.obolibrary.org/obo/GARD_0011972 EquivalentTo 'autosomal dominant optic atrophy'
http://purl.obolibrary.org/obo/GARD_0011971
http://purl.obolibrary.org/obo/GARD_0011971 EquivalentTo 'renal nutcracker syndrome'
http://purl.obolibrary.org/obo/GARD_0011974
http://purl.obolibrary.org/obo/GARD_0011974 EquivalentTo 'chromosome 3q29 microdeletion syndrome'
http://purl.obolibrary.org/obo/GARD_0011989
http://purl.obolibrary.org/obo/GARD_0011989 EquivalentTo 'pythiosis'
http://purl.obolibrary.org/obo/GARD_0011982
http://purl.obolibrary.org/obo/GARD_0011982 EquivalentTo 'primary membranoproliferative glomerulonephritis'
http://purl.obolibrary.org/obo/GARD_0011985
http://purl.obolibrary.org/obo/GARD_0011985 EquivalentTo '48,XYYY syndrome'
http://purl.obolibrary.org/obo/GARD_0011992
http://purl.obolibrary.org/obo/GARD_0011992 EquivalentTo 'acquired adult-onset immunodeficiency'
http://purl.obolibrary.org/obo/SCTID_405501007
'malignant hyperthermia of anesthesia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_405501007
http://purl.obolibrary.org/obo/SCTID_254865006
'ovarian fibroma (disease)' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254865006
http://purl.obolibrary.org/obo/SCTID_111227009
'ankylosis (disease)' EquivalentTo http://purl.obolibrary.org/obo/SCTID_111227009
http://purl.obolibrary.org/obo/SCTID_444911000
'acute myeloid leukemia with 11q23 abnormalities' EquivalentTo http://purl.obolibrary.org/obo/SCTID_444911000
http://purl.obolibrary.org/obo/SCTID_238746008
'acne keloid' EquivalentTo http://purl.obolibrary.org/obo/SCTID_238746008
http://purl.obolibrary.org/obo/MESH_C564665
http://purl.obolibrary.org/obo/MESH_C564665 EquivalentTo 'spermatogenic failure 3'
http://purl.obolibrary.org/obo/MESH_C564676
http://purl.obolibrary.org/obo/MESH_C564676 EquivalentTo 'familial dyskinesia and facial myokymia'
http://purl.obolibrary.org/obo/MESH_C564685
http://purl.obolibrary.org/obo/MESH_C564685 EquivalentTo 'spinocerebellar ataxia type 15/16'
http://purl.obolibrary.org/obo/MESH_C564627
http://purl.obolibrary.org/obo/MESH_C564627 EquivalentTo 'aortic aneurysm, familial thoracic 2'
http://purl.obolibrary.org/obo/MESH_C564637
http://purl.obolibrary.org/obo/MESH_C564637 EquivalentTo 'SLSN3'
http://purl.obolibrary.org/obo/MESH_C564635
http://purl.obolibrary.org/obo/MESH_C564635 EquivalentTo 'brachydactyly type A1B'
http://purl.obolibrary.org/obo/GARD_0011890
http://purl.obolibrary.org/obo/GARD_0011890 EquivalentTo 'peroxisome biogenesis disorder'
http://purl.obolibrary.org/obo/GARD_0011893
http://purl.obolibrary.org/obo/GARD_0011893 EquivalentTo 'mandibuloacral dysplasia'
http://purl.obolibrary.org/obo/GARD_0011899
http://purl.obolibrary.org/obo/GARD_0011899 EquivalentTo 'neurodegeneration with brain iron accumulation'
http://purl.obolibrary.org/obo/NCIT_C92566
'pica disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C92566
http://purl.obolibrary.org/obo/MESH_D059347
http://purl.obolibrary.org/obo/MESH_D059347 EquivalentTo 'cardio-renal syndrome'
http://purl.obolibrary.org/obo/MESH_C564605
http://purl.obolibrary.org/obo/MESH_C564605 EquivalentTo 'PEPS'
http://www.ebi.ac.uk/efo/EFO_0004198
'skin neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0004198
http://purl.obolibrary.org/obo/SCTID_190268003
'congenital hypothyroidism' EquivalentTo http://purl.obolibrary.org/obo/SCTID_190268003
http://purl.obolibrary.org/obo/NCIT_C125419
'spondyloepimetaphyseal dysplasia with multiple dislocations' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C125419
http://purl.obolibrary.org/obo/MESH_C564388
http://purl.obolibrary.org/obo/MESH_C564388 EquivalentTo 'hypertrophic cardiomyopathy 25'
http://purl.obolibrary.org/obo/MESH_C564345
http://purl.obolibrary.org/obo/MESH_C564345 EquivalentTo 'Parkinson disease 11, autosomal dominant, susceptibility to'
http://purl.obolibrary.org/obo/SCTID_91954009
'Machado-Joseph disease type 2' EquivalentTo http://purl.obolibrary.org/obo/SCTID_91954009
http://purl.obolibrary.org/obo/MESH_C564359
http://purl.obolibrary.org/obo/MESH_C564359 EquivalentTo 'skin fragility-woolly hair-palmoplantar keratoderma syndrome'
http://purl.obolibrary.org/obo/MESH_C564309
http://purl.obolibrary.org/obo/MESH_C564309 EquivalentTo 'peeling skin syndrome 4'
http://purl.obolibrary.org/obo/MESH_C564313
http://purl.obolibrary.org/obo/MESH_C564313 EquivalentTo 'epilepsy, familial adult myoclonic, 2'
http://purl.obolibrary.org/obo/SCTID_707359008
'ethmoid sinus squamous cell carcinoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_707359008
http://purl.obolibrary.org/obo/SCTID_240063002
'rigid spine muscular dystrophy 1' EquivalentTo http://purl.obolibrary.org/obo/SCTID_240063002
http://purl.obolibrary.org/obo/MONDO_0042924
Vagneur-Triolle-Ripert syndrome
'Vagneur-Triolle-Ripert syndrome' SubClassOf 'syndromic disease'
http://purl.obolibrary.org/obo/GARD_0000271 EquivalentTo 'Vagneur-Triolle-Ripert syndrome'
http://purl.obolibrary.org/obo/MESH_D011696
http://purl.obolibrary.org/obo/MESH_D011696 EquivalentTo 'thrombocytopenic purpura'
http://purl.obolibrary.org/obo/MONDO_0042902
Say-Carpenter syndrome
http://purl.obolibrary.org/obo/GARD_0000240 EquivalentTo 'Say-Carpenter syndrome'
'Say-Carpenter syndrome' SubClassOf 'syndromic disease'
http://purl.obolibrary.org/obo/MONDO_0042908
Schaap-Taylor-Baraitser syndrome
'Schaap-Taylor-Baraitser syndrome' SubClassOf 'syndromic disease'
http://purl.obolibrary.org/obo/GARD_0000248 EquivalentTo 'Schaap-Taylor-Baraitser syndrome'
http://purl.obolibrary.org/obo/MONDO_0042911
Schwartz-Cohen-addad-Lambert syndrome
http://purl.obolibrary.org/obo/MESH_C535835 EquivalentTo 'Schwartz-Cohen-addad-Lambert syndrome'
'Schwartz-Cohen-addad-Lambert syndrome' SubClassOf 'syndromic disease'
http://purl.obolibrary.org/obo/GARD_0000253 EquivalentTo 'Schwartz-Cohen-addad-Lambert syndrome'
http://purl.obolibrary.org/obo/MONDO_0042912
Schlegelberger-Grote syndrome
http://purl.obolibrary.org/obo/MESH_C536635 EquivalentTo 'Schlegelberger-Grote syndrome'
http://purl.obolibrary.org/obo/GARD_0000255 EquivalentTo 'Schlegelberger-Grote syndrome'
'Schlegelberger-Grote syndrome' SubClassOf 'syndromic disease'
http://purl.obolibrary.org/obo/MONDO_0042913
Schrander-stumpel-Theunissen-Hulsmans syndrome
http://purl.obolibrary.org/obo/GARD_0000256 EquivalentTo 'Schrander-stumpel-Theunissen-Hulsmans syndrome'
http://purl.obolibrary.org/obo/MESH_C536639 EquivalentTo 'Schrander-stumpel-Theunissen-Hulsmans syndrome'
'Schrander-stumpel-Theunissen-Hulsmans syndrome' SubClassOf 'syndromic disease'
http://purl.obolibrary.org/obo/MONDO_0042915
Schmitt-Gillenwater-Kelly syndrome
'Schmitt-Gillenwater-Kelly syndrome' SubClassOf 'syndromic disease'
http://purl.obolibrary.org/obo/GARD_0000258 EquivalentTo 'Schmitt-Gillenwater-Kelly syndrome'
http://purl.obolibrary.org/obo/MONDO_0042960
Sackey-Sakati-Aur syndrome
http://purl.obolibrary.org/obo/GARD_0000315 EquivalentTo 'Sackey-Sakati-Aur syndrome'
http://purl.obolibrary.org/obo/MESH_C537219 EquivalentTo 'Sackey-Sakati-Aur syndrome'
'Sackey-Sakati-Aur syndrome' SubClassOf 'syndromic disease'
http://purl.obolibrary.org/obo/MONDO_0042961
sacral hemangiomas multiple congenital abnormalities
http://purl.obolibrary.org/obo/MESH_C537222 EquivalentTo 'sacral hemangiomas multiple congenital abnormalities'
http://purl.obolibrary.org/obo/GARD_0000317 EquivalentTo 'sacral hemangiomas multiple congenital abnormalities'
http://purl.obolibrary.org/obo/MONDO_0042966
inherited mitral valve disease
'inherited mitral valve disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_75372006
'inherited mitral valve disease' SubClassOf 'mitral valve disease'
'inherited mitral valve disease' EquivalentTo 'mitral valve disease' and ('has modifier' some 'genetic and inherited')
'inherited mitral valve disease' SubClassOf 'inherited genetic disease'
http://purl.obolibrary.org/obo/MONDO_0042967
rheumatic disease of mitral valve
'rheumatic disease of mitral valve' SubClassOf 'mitral valve disease'
'rheumatic disease of mitral valve' EquivalentTo http://purl.obolibrary.org/obo/SCTID_83898004
'rheumatic disease of mitral valve' SubClassOf 'rheumatologic disorder'
'rheumatic disease of mitral valve' EquivalentTo 'rheumatologic disorder' and ('disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0002135)
http://purl.obolibrary.org/obo/MONDO_0042968
partial duplication of chromosome 12
'partial duplication of chromosome 12' SubClassOf 'partial autosomal trisomy/tetrasomy'
http://purl.obolibrary.org/obo/MONDO_0042969
partial duplication of the long arm of chromosome 12
'partial duplication of the long arm of chromosome 12' SubClassOf 'partial duplication of chromosome 12'
http://purl.obolibrary.org/obo/MESH_C538300 EquivalentTo 'partial duplication of the long arm of chromosome 12'
http://purl.obolibrary.org/obo/GARD_0001926 EquivalentTo 'partial duplication of the long arm of chromosome 12'
http://purl.obolibrary.org/obo/MONDO_0042962
Slti-Salem syndrome
'Slti-Salem syndrome' SubClassOf 'hypogonadism'
http://purl.obolibrary.org/obo/GARD_0000324 EquivalentTo 'Slti-Salem syndrome'
'Slti-Salem syndrome' SubClassOf 'alopecia'
'Slti-Salem syndrome' SubClassOf 'rare urogenital disease'
'Slti-Salem syndrome' SubClassOf 'syndromic disease'
http://linkedlifedata.com/resource/umls/id/C2931284 EquivalentTo 'Slti-Salem syndrome'
http://purl.obolibrary.org/obo/MESH_C536673 EquivalentTo 'Slti-Salem syndrome'
'Slti-Salem syndrome' SubClassOf 'rare endocrine disease'
http://purl.obolibrary.org/obo/MONDO_0042963
wandering spleen
http://purl.obolibrary.org/obo/MESH_D050805 EquivalentTo 'wandering spleen'
'wandering spleen' SubClassOf http://purl.obolibrary.org/obo/UMLS_C1709838
'wandering spleen' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C85224
http://purl.obolibrary.org/obo/GARD_0000328 EquivalentTo 'wandering spleen'
'wandering spleen' EquivalentTo http://purl.obolibrary.org/obo/SCTID_191384005
'wandering spleen' SubClassOf 'splenic disease'
http://purl.obolibrary.org/obo/MONDO_0042964
Machado-Joseph disease type 4
'Machado-Joseph disease type 4' SubClassOf 'Machado-Joseph disease'
'Machado-Joseph disease type 4' EquivalentTo http://purl.obolibrary.org/obo/SCTID_91956006
http://purl.obolibrary.org/obo/MONDO_0042965
Machado-Joseph disease type 5
'Machado-Joseph disease type 5' SubClassOf 'Machado-Joseph disease'
'Machado-Joseph disease type 5' SubClassOf 'disease shares features of' some 'hereditary spastic paraplegia'
http://purl.obolibrary.org/obo/MONDO_0042970
disorder of glutamate decarboxylase
'disorder of glutamate decarboxylase' SubClassOf 'disease caused by disruption of' some http://purl.obolibrary.org/obo/GO_0004351
'disorder of glutamate decarboxylase' EquivalentTo http://purl.obolibrary.org/obo/SCTID_124596009
http://purl.obolibrary.org/obo/GARD_0002505 EquivalentTo 'disorder of glutamate decarboxylase'
'disorder of glutamate decarboxylase' SubClassOf 'disease disrupting molecular activity'
'disorder of glutamate decarboxylase' EquivalentTo 'disease or disorder' and ('disease caused by disruption of' some http://purl.obolibrary.org/obo/GO_0004351)
http://linkedlifedata.com/resource/umls/id/C1291560 EquivalentTo 'disorder of glutamate decarboxylase'
http://purl.obolibrary.org/obo/MONDO_0042971
congenital herpes virus infection
'congenital herpes virus infection' SubClassOf 'infectious embryofetopathy'
http://purl.obolibrary.org/obo/GARD_0002669 EquivalentTo 'congenital herpes virus infection'
'congenital herpes virus infection' SubClassOf 'rare viral disease'
'congenital herpes virus infection' EquivalentTo http://purl.obolibrary.org/obo/SCTID_715337002
'congenital herpes virus infection' SubClassOf 'Herpesviridae infectious disease'
'congenital herpes virus infection' EquivalentTo 'infectious embryofetopathy' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_10292)
http://purl.obolibrary.org/obo/GARD_0002670 EquivalentTo 'congenital herpes virus infection'
http://purl.obolibrary.org/obo/MONDO_0042972
meningococcemia
'meningococcemia' SubClassOf 'bacterial infectious disease with sepsis'
'meningococcemia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_4089001
'meningococcemia' EquivalentTo 'meningococcal infection' and ('disease HAS feature' some http://purl.obolibrary.org/obo/HP_0100806)
http://purl.obolibrary.org/obo/GARD_0003472 EquivalentTo 'meningococcemia'
http://linkedlifedata.com/resource/umls/id/C0025306 EquivalentTo 'meningococcemia'
'meningococcemia' SubClassOf 'meningococcal infection'
http://purl.obolibrary.org/obo/MONDO_0042977
trichoepithelioma, multiple familial, 1
'trichoepithelioma, multiple familial, 1' SubClassOf 'familial multiple trichoepithelioma'
http://purl.obolibrary.org/obo/GARD_0005262 EquivalentTo 'trichoepithelioma, multiple familial, 1'
'trichoepithelioma, multiple familial, 1' EquivalentTo http://purl.obolibrary.org/obo/OMIM_601606
http://purl.obolibrary.org/obo/MONDO_0042978
http://purl.obolibrary.org/obo/MONDO_0042979
hypokalemic periodic paralysis, type 1
'hypokalemic periodic paralysis, type 1' EquivalentTo http://purl.obolibrary.org/obo/OMIM_170400
'hypokalemic periodic paralysis, type 1' SubClassOf 'hypokalemic periodic paralysis'
http://purl.obolibrary.org/obo/MONDO_0042973
familial osteosclerosis
'familial osteosclerosis' SubClassOf 'inherited genetic disease'
'familial osteosclerosis' SubClassOf 'osteosclerosis'
'familial osteosclerosis' EquivalentTo 'osteosclerosis' and ('has modifier' some 'genetic and inherited')
http://purl.obolibrary.org/obo/GARD_0004174 EquivalentTo 'familial osteosclerosis'
http://purl.obolibrary.org/obo/MONDO_0042974
parainfluenza virus type 3 infectious disease
'parainfluenza virus type 3 infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_30270006
http://purl.obolibrary.org/obo/GARD_0004215 EquivalentTo 'parainfluenza virus type 3 infectious disease'
'parainfluenza virus type 3 infectious disease' SubClassOf 'respirovirus infectious disease'
'parainfluenza virus type 3 infectious disease' SubClassOf 'realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_11216
'parainfluenza virus type 3 infectious disease' EquivalentTo 'disease or disorder' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_11216)
http://purl.obolibrary.org/obo/MONDO_0042975
pseudoachondroplastic dysplasia 2
http://linkedlifedata.com/resource/umls/id/C2931030 EquivalentTo 'pseudoachondroplastic dysplasia 2'
'pseudoachondroplastic dysplasia 2' SubClassOf 'achondroplasia'
http://purl.obolibrary.org/obo/GARD_0004542 EquivalentTo 'pseudoachondroplastic dysplasia 2'
http://purl.obolibrary.org/obo/MESH_C535820 EquivalentTo 'pseudoachondroplastic dysplasia 2'
http://purl.obolibrary.org/obo/MONDO_0042976
vitamin b deficiency
http://purl.obolibrary.org/obo/MESH_D014804 EquivalentTo 'vitamin b deficiency'
'vitamin b deficiency' EquivalentTo http://purl.obolibrary.org/obo/SCTID_47903000
'vitamin b deficiency' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35129
'vitamin b deficiency' SubClassOf 'vitamin deficiency disorder'
http://purl.obolibrary.org/obo/SCTID_443961001
'adenocarcinoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_443961001
http://purl.obolibrary.org/obo/NCIT_C92761
'pregnancy, cornual' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C92761
http://www.orpha.net/ORDO/Orphanet_160064
'age related macular degeneration 9' EquivalentTo http://www.orpha.net/ORDO/Orphanet_160064
http://purl.obolibrary.org/obo/MONDO_0042956
Saal-Bulas syndrome
http://purl.obolibrary.org/obo/MESH_C537193 EquivalentTo 'Saal-Bulas syndrome'
'Saal-Bulas syndrome' SubClassOf 'syndromic disease'
http://purl.obolibrary.org/obo/GARD_0000311 EquivalentTo 'Saal-Bulas syndrome'
http://purl.obolibrary.org/obo/MESH_C564496
http://purl.obolibrary.org/obo/MESH_C564496 EquivalentTo 'MRX82'
http://purl.obolibrary.org/obo/MONDO_0042980
Westphal disease
'Westphal disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_182747006
'Westphal disease' SubClassOf 'familial periodic paralysis'
http://purl.obolibrary.org/obo/MESH_C536694 EquivalentTo 'Westphal disease'
http://purl.obolibrary.org/obo/GARD_0005557 EquivalentTo 'Westphal disease'
'Westphal disease' SubClassOf 'disease shares features of' some 'Huntington disease'
http://linkedlifedata.com/resource/umls/id/C1279186 EquivalentTo 'Westphal disease'
http://purl.obolibrary.org/obo/MONDO_0042981
aortic valve stenosis
http://purl.obolibrary.org/obo/GARD_0005830 EquivalentTo 'aortic valve stenosis'
'aortic valve stenosis' SubClassOf 'aortic malformation'
'aortic valve stenosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_60573004
'aortic valve stenosis' SubClassOf 'ascending aorta anomaly'
http://purl.obolibrary.org/obo/MONDO_0042982
GATA2 deficiency with susceptibility to MDS/AML
http://purl.obolibrary.org/obo/GARD_0013373 EquivalentTo 'GATA2 deficiency with susceptibility to MDS/AML'
'GATA2 deficiency with susceptibility to MDS/AML' SubClassOf 'rare genetic immune disease'
'GATA2 deficiency with susceptibility to MDS/AML' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C126349
'GATA2 deficiency with susceptibility to MDS/AML' SubClassOf 'immunodeficiency syndrome'
http://purl.obolibrary.org/obo/MONDO_0042983
neurocutaneous syndrome
'neurocutaneous syndrome' SubClassOf 'disease arises from structure' some http://purl.obolibrary.org/obo/UBERON_0000924
'neurocutaneous syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84348
http://purl.obolibrary.org/obo/MESH_D020752 EquivalentTo 'neurocutaneous syndrome'
'neurocutaneous syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_78572006
'neurocutaneous syndrome' SubClassOf 'nervous system disease'
http://purl.obolibrary.org/obo/SCTID_33882007
'steatitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_33882007
http://purl.obolibrary.org/obo/MESH_D011644
http://purl.obolibrary.org/obo/MESH_D011644 EquivalentTo 'puerperal disorder'
http://purl.obolibrary.org/obo/SCTID_5158005
'Tourette syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_5158005
http://purl.obolibrary.org/obo/MESH_C564479
http://purl.obolibrary.org/obo/MESH_C564479 EquivalentTo 'SHOX-related short stature'
http://purl.obolibrary.org/obo/MESH_D011605
http://purl.obolibrary.org/obo/MESH_D011605 EquivalentTo 'drug psychosis'
http://purl.obolibrary.org/obo/MESH_C564473
http://purl.obolibrary.org/obo/MESH_C564473 EquivalentTo 'MYP13'
http://purl.obolibrary.org/obo/MESH_C564489
http://purl.obolibrary.org/obo/MESH_C564489 EquivalentTo 'MRX78'
http://purl.obolibrary.org/obo/MESH_C564480
http://purl.obolibrary.org/obo/MESH_C564480 EquivalentTo 'FG syndrome 5'
http://purl.obolibrary.org/obo/MESH_C564483
http://purl.obolibrary.org/obo/MESH_C564483 EquivalentTo 'MRX92'
http://purl.obolibrary.org/obo/MESH_C564438
http://purl.obolibrary.org/obo/MESH_C564438 EquivalentTo 'X-linked cone-rod dystrophy 1'
http://purl.obolibrary.org/obo/MESH_C564406
http://purl.obolibrary.org/obo/MESH_C564406 EquivalentTo 'male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome'
http://purl.obolibrary.org/obo/SCTID_426768001
'engraftment syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_426768001
http://purl.obolibrary.org/obo/SCTID_88027004
'endomyometritis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_88027004
http://purl.obolibrary.org/obo/MESH_D035583
http://purl.obolibrary.org/obo/MESH_D035583 EquivalentTo 'rare disease'
http://purl.obolibrary.org/obo/NCIT_C33645
'panniculitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C33645
http://purl.obolibrary.org/obo/SCTID_702406000
'testicular sex cord-stromal neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_702406000
http://purl.obolibrary.org/obo/SCTID_41659003
'haemophilus infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_41659003
http://purl.obolibrary.org/obo/NCIT_C18058
'Prieto syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C18058
http://purl.obolibrary.org/obo/MESH_D001752
http://purl.obolibrary.org/obo/MESH_D001752 EquivalentTo 'blast phase chronic myelogenous leukemia, BCR-ABL1 positive'
http://purl.obolibrary.org/obo/SCTID_59981001
'penile agenesis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_59981001
http://purl.obolibrary.org/obo/SCTID_400140006
'junctional epidermolysis bullosa Herlitz type' EquivalentTo http://purl.obolibrary.org/obo/SCTID_400140006
http://purl.obolibrary.org/obo/GARD_0006105
http://purl.obolibrary.org/obo/GARD_0006105 EquivalentTo 'chronic myelogenous leukemia, BCR-ABL1 positive'
http://purl.obolibrary.org/obo/GARD_0006104
http://purl.obolibrary.org/obo/GARD_0006104 EquivalentTo 'B-cell chronic lymphocytic leukemia'
http://purl.obolibrary.org/obo/GARD_0006102
http://purl.obolibrary.org/obo/GARD_0006102 EquivalentTo 'chronic inflammatory demyelinating polyneuropathy'
http://www.orpha.net/ORDO/Orphanet_390766
'serous otitis media' EquivalentTo http://www.orpha.net/ORDO/Orphanet_390766
http://purl.obolibrary.org/obo/GARD_0006108
http://purl.obolibrary.org/obo/GARD_0006108 EquivalentTo 'chronic recurrent multifocal osteomyelitis (disease)'
http://purl.obolibrary.org/obo/GARD_0006114
http://purl.obolibrary.org/obo/GARD_0006114 EquivalentTo 'citrullinemia type I'
http://purl.obolibrary.org/obo/GARD_0006113
http://purl.obolibrary.org/obo/GARD_0006113 EquivalentTo 'ciguatera fish poisoning'
http://purl.obolibrary.org/obo/GARD_0006111
http://purl.obolibrary.org/obo/GARD_0006111 EquivalentTo 'eosinophilic granulomatosis with polyangiitis'
http://purl.obolibrary.org/obo/GARD_0006118
http://purl.obolibrary.org/obo/GARD_0006118 EquivalentTo 'cleidocranial dysplasia'
http://purl.obolibrary.org/obo/GARD_0006124
http://purl.obolibrary.org/obo/GARD_0006124 EquivalentTo 'Coffin-Siris syndrome'
http://purl.obolibrary.org/obo/GARD_0006122
http://purl.obolibrary.org/obo/GARD_0006122 EquivalentTo 'Cockayne syndrome'
http://purl.obolibrary.org/obo/GARD_0006130
http://purl.obolibrary.org/obo/GARD_0006130 EquivalentTo 'cold agglutinin disease'
http://purl.obolibrary.org/obo/GARD_0006187
http://purl.obolibrary.org/obo/GARD_0006187 EquivalentTo 'ligneous conjunctivitis'
http://purl.obolibrary.org/obo/MESH_C564942
http://purl.obolibrary.org/obo/MESH_C564942 EquivalentTo 'neutrophil actin dysfunction'
http://purl.obolibrary.org/obo/GARD_0006194
http://purl.obolibrary.org/obo/GARD_0006194 EquivalentTo 'triatrial heart'
http://purl.obolibrary.org/obo/GARD_0006149
http://purl.obolibrary.org/obo/GARD_0006149 EquivalentTo 'inherited aplastic anemia'
http://purl.obolibrary.org/obo/GARD_0006148
http://purl.obolibrary.org/obo/GARD_0006148 EquivalentTo 'antithrombin III deficiency'
http://purl.obolibrary.org/obo/GARD_0006145
http://purl.obolibrary.org/obo/GARD_0006145 EquivalentTo 'cone-rod dystrophy 2'
http://purl.obolibrary.org/obo/GARD_0006140
http://purl.obolibrary.org/obo/GARD_0006140 EquivalentTo 'common variable immunodeficiency'
http://purl.obolibrary.org/obo/MESH_D011018
http://purl.obolibrary.org/obo/MESH_D011018 EquivalentTo 'streptococcal pneumonia'
http://purl.obolibrary.org/obo/GARD_0006169
http://purl.obolibrary.org/obo/GARD_0006169 EquivalentTo 'hepatoerythropoietic porphyria'
http://purl.obolibrary.org/obo/GARD_0006161
http://purl.obolibrary.org/obo/GARD_0006161 EquivalentTo 'congenital fiber-type disproportion myopathy'
http://purl.obolibrary.org/obo/MESH_D011041
http://purl.obolibrary.org/obo/MESH_D011041 EquivalentTo 'poisoning'
http://www.ebi.ac.uk/efo/EFO_0004281
'neoplasm of testis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0004281
http://purl.obolibrary.org/obo/SCTID_254131007
'Worth syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254131007
http://purl.obolibrary.org/obo/SCTID_719814009
'X-linked mendelian susceptibility to mycobacterial diseases' EquivalentTo http://purl.obolibrary.org/obo/SCTID_719814009
http://purl.obolibrary.org/obo/MONDO_0042724
macrocephaly, mental retardation, short stature, spastic paraplegia and cns malformations
'macrocephaly, mental retardation, short stature, spastic paraplegia and cns malformations' SubClassOf 'syndromic disease'
http://purl.obolibrary.org/obo/GARD_0000172 EquivalentTo 'macrocephaly, mental retardation, short stature, spastic paraplegia and cns malformations'
http://purl.obolibrary.org/obo/MONDO_0042726
macrogyria, pseudobulbar palsy and mental retardation
'macrogyria, pseudobulbar palsy and mental retardation' SubClassOf 'syndromic disease'
http://purl.obolibrary.org/obo/MESH_C537722 EquivalentTo 'macrogyria, pseudobulbar palsy and mental retardation'
http://purl.obolibrary.org/obo/GARD_0000174 EquivalentTo 'macrogyria, pseudobulbar palsy and mental retardation'
http://purl.obolibrary.org/obo/MONDO_0042727
sacrococcygeal teratoma
'sacrococcygeal teratoma' EquivalentTo http://www.orpha.net/ORDO/Orphanet_494421
'sacrococcygeal teratoma' SubClassOf 'connective tissue neoplasm'
'sacrococcygeal teratoma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C99055
'sacrococcygeal teratoma' SubClassOf 'disorder of anatomical region'
'sacrococcygeal teratoma' SubClassOf 'disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0001350
'sacrococcygeal teratoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_281561000
http://purl.obolibrary.org/obo/GARD_0000319 EquivalentTo 'sacrococcygeal teratoma'
'sacrococcygeal teratoma' EquivalentTo 'teratoma' and ('disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0001350)
'sacrococcygeal teratoma' SubClassOf 'rare bone disease'
'sacrococcygeal teratoma' SubClassOf 'teratoma'
http://linkedlifedata.com/resource/umls/id/C0559459 EquivalentTo 'sacrococcygeal teratoma'
'sacrococcygeal teratoma' SubClassOf 'vertebral column disease'
http://purl.obolibrary.org/obo/MONDO_0042705
prostatic malacoplakia associated with prostatic abscess
http://purl.obolibrary.org/obo/GARD_0000149 EquivalentTo 'prostatic malacoplakia associated with prostatic abscess'
http://purl.obolibrary.org/obo/MESH_C537244 EquivalentTo 'prostatic malacoplakia associated with prostatic abscess'
'prostatic malacoplakia associated with prostatic abscess' SubClassOf 'syndromic disease'
http://purl.obolibrary.org/obo/NCBITaxon_42231
http://purl.obolibrary.org/obo/MONDO_0042717
Saul-Wilkes-Stevenson syndrome
http://purl.obolibrary.org/obo/GARD_0000161 EquivalentTo 'Saul-Wilkes-Stevenson syndrome'
'Saul-Wilkes-Stevenson syndrome' SubClassOf 'syndromic disease'
http://www.orpha.net/ORDO/Orphanet_159255
'chester porphyria' EquivalentTo http://www.orpha.net/ORDO/Orphanet_159255
http://purl.obolibrary.org/obo/MESH_D001607
http://purl.obolibrary.org/obo/MESH_D001607 EquivalentTo 'chronic beryllium disease'
http://purl.obolibrary.org/obo/GARD_0006007
http://purl.obolibrary.org/obo/GARD_0006007 EquivalentTo 'caudal regression sequence'
http://purl.obolibrary.org/obo/GARD_0006005
http://purl.obolibrary.org/obo/GARD_0006005 EquivalentTo 'localized Castleman disease'
http://purl.obolibrary.org/obo/GARD_0006003
http://purl.obolibrary.org/obo/GARD_0006003 EquivalentTo 'Carpenter syndrome'
http://purl.obolibrary.org/obo/GARD_0006001
http://purl.obolibrary.org/obo/GARD_0006001 EquivalentTo 'Carnosinemia'
http://purl.obolibrary.org/obo/GARD_0006015
http://purl.obolibrary.org/obo/GARD_0006015 EquivalentTo 'central diabetes insipidus'
http://purl.obolibrary.org/obo/GARD_0006014
http://purl.obolibrary.org/obo/GARD_0006014 EquivalentTo 'central core myopathy'
http://purl.obolibrary.org/obo/GARD_0006010
http://purl.obolibrary.org/obo/GARD_0006010 EquivalentTo 'macrocystic lymphatic malformation'
http://purl.obolibrary.org/obo/SCTID_267718000
'age-related macular degeneration' EquivalentTo http://purl.obolibrary.org/obo/SCTID_267718000
http://purl.obolibrary.org/obo/GARD_0006065
http://purl.obolibrary.org/obo/GARD_0006065 EquivalentTo 'autosomal trisomy'
http://purl.obolibrary.org/obo/SCTID_446022000
'uterine carcinoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_446022000
http://purl.obolibrary.org/obo/GARD_0006062
http://purl.obolibrary.org/obo/GARD_0006062 EquivalentTo 'choroiditis'
http://purl.obolibrary.org/obo/GARD_0006060
http://purl.obolibrary.org/obo/GARD_0006060 EquivalentTo 'chorioretinitis (disease)'
http://purl.obolibrary.org/obo/SCTID_231824001
'benign eyelid neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_231824001
http://www.ebi.ac.uk/efo/EFO_0004207
'degenerative myopia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0004207
http://purl.obolibrary.org/obo/GARD_0006075
http://purl.obolibrary.org/obo/GARD_0006075 EquivalentTo 'chromosome 17 deletion'
http://www.ebi.ac.uk/efo/EFO_0004233
'leukopenia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0004233
http://www.ebi.ac.uk/efo/EFO_0004230
'endometrial cancer' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0004230
http://purl.obolibrary.org/obo/GARD_0006090
http://purl.obolibrary.org/obo/GARD_0006090 EquivalentTo 'chromosome 4 short arm deletion'
http://purl.obolibrary.org/obo/GARD_0006093
http://purl.obolibrary.org/obo/GARD_0006093 EquivalentTo 'trisomy 5p'
http://purl.obolibrary.org/obo/GARD_0006091
http://purl.obolibrary.org/obo/GARD_0006091 EquivalentTo 'trisomy 4p'
http://purl.obolibrary.org/obo/GARD_0006026
http://purl.obolibrary.org/obo/GARD_0006026 EquivalentTo 'cerebrocostomandibular syndrome'
http://purl.obolibrary.org/obo/GARD_0006027
http://purl.obolibrary.org/obo/GARD_0006027 EquivalentTo 'COFS syndrome'
http://purl.obolibrary.org/obo/GARD_0006037
http://purl.obolibrary.org/obo/GARD_0006037 EquivalentTo 'postpartum amenorrhea-galactorrhea syndrome'
http://purl.obolibrary.org/obo/NCIT_C8411
'metastatic malignant neoplasm in the colon' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C8411
http://purl.obolibrary.org/obo/GARD_0006033
http://purl.obolibrary.org/obo/GARD_0006033 EquivalentTo 'Chandler syndrome'
http://purl.obolibrary.org/obo/GARD_0006034
http://purl.obolibrary.org/obo/GARD_0006034 EquivalentTo 'Charcot-Marie-tooth disease'
http://www.ebi.ac.uk/efo/EFO_0004272
'anemia (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0004272
http://purl.obolibrary.org/obo/GARD_0006048
http://purl.obolibrary.org/obo/GARD_0006048 EquivalentTo 'CCAL1'
http://purl.obolibrary.org/obo/GARD_0006047
http://purl.obolibrary.org/obo/GARD_0006047 EquivalentTo 'chondroblastoma (disease)'
http://purl.obolibrary.org/obo/SCTID_255002002
'orbital dermoid cyst' EquivalentTo http://purl.obolibrary.org/obo/SCTID_255002002
http://purl.obolibrary.org/obo/GARD_0006059
http://purl.obolibrary.org/obo/GARD_0006059 EquivalentTo 'choriocarcinoma (disease)'
http://purl.obolibrary.org/obo/GARD_0006055
http://purl.obolibrary.org/obo/GARD_0006055 EquivalentTo 'chondrosarcoma (disease)'
http://purl.obolibrary.org/obo/GARD_0006051
http://purl.obolibrary.org/obo/GARD_0006051 EquivalentTo 'osteochondrodysplasia'
http://purl.obolibrary.org/obo/NCIT_C18252
'exostoses, multiple, type 2' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C18252
http://purl.obolibrary.org/obo/SCTID_445513004
'intracranial cavernous angioma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_445513004
http://purl.obolibrary.org/obo/SCTID_278833002
'craniometadiaphyseal dysplasia, wormian bone type' EquivalentTo http://purl.obolibrary.org/obo/SCTID_278833002
http://purl.obolibrary.org/obo/MONDO_0042603
Sanderson-Fraser syndrome
http://purl.obolibrary.org/obo/MESH_C537232 EquivalentTo 'Sanderson-Fraser syndrome'
http://purl.obolibrary.org/obo/GARD_0000153 EquivalentTo 'Sanderson-Fraser syndrome'
'Sanderson-Fraser syndrome' SubClassOf 'syndromic disease'
http://purl.obolibrary.org/obo/MONDO_0042604
Sandhaus-Ben-Ami syndrome
http://purl.obolibrary.org/obo/MESH_C537233 EquivalentTo 'Sandhaus-Ben-Ami syndrome'
'Sandhaus-Ben-Ami syndrome' SubClassOf 'syndromic disease'
http://purl.obolibrary.org/obo/GARD_0000154 EquivalentTo 'Sandhaus-Ben-Ami syndrome'
http://purl.obolibrary.org/obo/MONDO_0042605
Y chromosome infertility due to DAZ1 deletion
http://purl.obolibrary.org/obo/GARD_0000185 EquivalentTo 'Y chromosome infertility due to DAZ1 deletion'
'Y chromosome infertility due to DAZ1 deletion' SubClassOf 'male infertility'
http://purl.obolibrary.org/obo/MESH_D011304
http://purl.obolibrary.org/obo/MESH_D011304 EquivalentTo 'presbycusis'
http://purl.obolibrary.org/obo/MONDO_0042600
Sammartino-Decreccio syndrome
http://purl.obolibrary.org/obo/GARD_0000150 EquivalentTo 'Sammartino-Decreccio syndrome'
'Sammartino-Decreccio syndrome' SubClassOf 'syndromic disease'
http://purl.obolibrary.org/obo/MONDO_0042601
Samson-Gardner syndrome
'Samson-Gardner syndrome' SubClassOf 'syndromic disease'
http://purl.obolibrary.org/obo/GARD_0000151 EquivalentTo 'Samson-Gardner syndrome'
http://purl.obolibrary.org/obo/MESH_C537230 EquivalentTo 'Samson-Gardner syndrome'
http://purl.obolibrary.org/obo/MONDO_0042602
Samson-Viljoen syndrome
'Samson-Viljoen syndrome' SubClassOf 'syndromic disease'
http://purl.obolibrary.org/obo/GARD_0000152 EquivalentTo 'Samson-Viljoen syndrome'
http://purl.obolibrary.org/obo/SCTID_30496006
'viral dilated cardiomyopathy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_30496006
http://purl.obolibrary.org/obo/SCTID_47709007
'humoral hypercalcemia of malignancy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_47709007
http://purl.obolibrary.org/obo/MESH_D001930
http://purl.obolibrary.org/obo/MESH_D001930 EquivalentTo 'brain injury'
http://purl.obolibrary.org/obo/SCTID_51510002
'ergotism' EquivalentTo http://purl.obolibrary.org/obo/SCTID_51510002
http://purl.obolibrary.org/obo/MESH_C564773
http://purl.obolibrary.org/obo/MESH_C564773 EquivalentTo 'thoracomelic dysplasia'
http://www.orpha.net/ORDO/Orphanet_121025
'maple syrup urine disease type 2' EquivalentTo http://www.orpha.net/ORDO/Orphanet_121025
http://purl.obolibrary.org/obo/SCTID_12301009
'neonatal urinary tract infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_12301009
http://purl.obolibrary.org/obo/MESH_D059269
http://purl.obolibrary.org/obo/MESH_D059269 EquivalentTo 'chilaiditi syndrome'
http://purl.obolibrary.org/obo/MESH_C564702
http://purl.obolibrary.org/obo/MESH_C564702 EquivalentTo 'Charcot-Marie-tooth disease dominant intermediate a'
http://purl.obolibrary.org/obo/MESH_C564713
http://purl.obolibrary.org/obo/MESH_C564713 EquivalentTo 'MRX50'
http://purl.obolibrary.org/obo/NCIT_C82884
'lupus erythematosus panniculitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C82884
http://purl.obolibrary.org/obo/NCIT_C82887
'IgG4-related submandibular gland disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C82887
http://purl.obolibrary.org/obo/MESH_D011269
http://purl.obolibrary.org/obo/MESH_D011269 EquivalentTo 'abdominal ectopic pregnancy'
http://purl.obolibrary.org/obo/SCTID_70931000
'tooth resorption' EquivalentTo http://purl.obolibrary.org/obo/SCTID_70931000
http://purl.obolibrary.org/obo/MESH_D011274
http://purl.obolibrary.org/obo/MESH_D011274 EquivalentTo 'tubal pregnancy'
http://purl.obolibrary.org/obo/MESH_D011213
http://purl.obolibrary.org/obo/MESH_D011213 EquivalentTo 'milker's nodule'
http://purl.obolibrary.org/obo/MESH_D001899
http://purl.obolibrary.org/obo/MESH_D001899 EquivalentTo 'Borrelia infectious disease'
http://purl.obolibrary.org/obo/MESH_D050805
http://purl.obolibrary.org/obo/MESH_D050805 EquivalentTo 'wandering spleen'
http://purl.obolibrary.org/obo/MESH_D011230
http://purl.obolibrary.org/obo/MESH_D011230 EquivalentTo 'precancerous condition'
http://purl.obolibrary.org/obo/MESH_D001862
http://purl.obolibrary.org/obo/MESH_D001862 EquivalentTo 'bone resorption disease'
http://purl.obolibrary.org/obo/SCTID_51040009
'thallium poisoning' EquivalentTo http://purl.obolibrary.org/obo/SCTID_51040009
http://purl.obolibrary.org/obo/MESH_D001845
http://purl.obolibrary.org/obo/MESH_D001845 EquivalentTo 'solitary bone cyst'
http://purl.obolibrary.org/obo/MESH_C564893
http://purl.obolibrary.org/obo/MESH_C564893 EquivalentTo 'eosinophil peroxidase deficiency'
http://purl.obolibrary.org/obo/SCTID_76682005
'vitreous body disorder' EquivalentTo http://purl.obolibrary.org/obo/SCTID_76682005
http://purl.obolibrary.org/obo/SCTID_237996001
'long chain acyl-CoA dehydrogenase deficiency' EquivalentTo http://purl.obolibrary.org/obo/SCTID_237996001
http://www.ebi.ac.uk/efo/EFO_0004420
'genetic' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0004420
http://purl.obolibrary.org/obo/SCTID_127227003
'tonsil neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_127227003
http://purl.obolibrary.org/obo/SCTID_11218009
'Pseudomonas aeruginosa infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_11218009
http://purl.obolibrary.org/obo/MESH_C564844
http://purl.obolibrary.org/obo/MESH_C564844 EquivalentTo 'reticular dystrophy of the retinal pigment epithelium'
http://purl.obolibrary.org/obo/SCTID_105121000119102
'vaginal squamous cell carcinoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_105121000119102
http://purl.obolibrary.org/obo/MESH_C564805
http://purl.obolibrary.org/obo/MESH_C564805 EquivalentTo 'spinal muscular atrophy, type I, with congenital bone fractures'
http://purl.obolibrary.org/obo/SCTID_367434002
'Erysipelothrix infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_367434002
http://purl.obolibrary.org/obo/SCTID_715862006
'Smith-McCort dysplasia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_715862006
http://purl.obolibrary.org/obo/GARD_0006622
http://purl.obolibrary.org/obo/GARD_0006622 EquivalentTo 'hereditary fructose intolerance'
http://purl.obolibrary.org/obo/GARD_0006621
http://purl.obolibrary.org/obo/GARD_0006621 EquivalentTo 'hereditary elliptocytosis'
http://purl.obolibrary.org/obo/GARD_0006635
http://purl.obolibrary.org/obo/GARD_0006635 EquivalentTo 'hereditary sensory and autonomic neuropathy type 1'
http://purl.obolibrary.org/obo/GARD_0006643
http://purl.obolibrary.org/obo/GARD_0006643 EquivalentTo 'Hermansky-Pudlak syndrome'
http://purl.obolibrary.org/obo/GARD_0006608
http://purl.obolibrary.org/obo/GARD_0006608 EquivalentTo 'liver cancer'
http://purl.obolibrary.org/obo/GARD_0006588
http://purl.obolibrary.org/obo/GARD_0006588 EquivalentTo 'hemolytic-uremic syndrome'
http://purl.obolibrary.org/obo/GARD_0006584
http://purl.obolibrary.org/obo/GARD_0006584 EquivalentTo 'sickle cell-hemoglobin c disease syndrome'
http://purl.obolibrary.org/obo/GARD_0006582
http://purl.obolibrary.org/obo/GARD_0006582 EquivalentTo 'hemifacial microsomia'
http://purl.obolibrary.org/obo/GARD_0006592
http://purl.obolibrary.org/obo/GARD_0006592 EquivalentTo 'hemophilic arthropathy'
http://purl.obolibrary.org/obo/GARD_0006591
http://purl.obolibrary.org/obo/GARD_0006591 EquivalentTo 'hemophilia A'
http://purl.obolibrary.org/obo/GARD_0006545
http://purl.obolibrary.org/obo/GARD_0006545 EquivalentTo 'agranulocytosis'
http://purl.obolibrary.org/obo/GARD_0006543
http://purl.obolibrary.org/obo/GARD_0006543 EquivalentTo 'Acrogeria'
http://purl.obolibrary.org/obo/GARD_0006542
http://purl.obolibrary.org/obo/GARD_0006542 EquivalentTo 'Gorham-Stout disease'
http://purl.obolibrary.org/obo/GARD_0006540
http://purl.obolibrary.org/obo/GARD_0006540 EquivalentTo 'Goldenhar syndrome'
http://purl.obolibrary.org/obo/GARD_0006554
http://purl.obolibrary.org/obo/GARD_0006554 EquivalentTo 'Guillain-Barre syndrome'
http://purl.obolibrary.org/obo/GARD_0006568
http://purl.obolibrary.org/obo/GARD_0006568 EquivalentTo 'autosomal recessive congenital ichthyosis 4B'
http://purl.obolibrary.org/obo/GARD_0006564
http://purl.obolibrary.org/obo/GARD_0006564 EquivalentTo 'pantothenate kinase-associated neurodegeneration'
http://purl.obolibrary.org/obo/GARD_0006560
http://purl.obolibrary.org/obo/GARD_0006560 EquivalentTo 'hairy cell leukemia'
http://purl.obolibrary.org/obo/GARD_0006571
http://purl.obolibrary.org/obo/GARD_0006571 EquivalentTo 'ankyloblepharon-ectodermal defects-cleft lip/palate syndrome'
http://purl.obolibrary.org/obo/MESH_D015817
http://purl.obolibrary.org/obo/MESH_D015817 EquivalentTo 'eye infectious disease'
http://purl.obolibrary.org/obo/MESH_C535331
http://purl.obolibrary.org/obo/MESH_C535331 EquivalentTo 'Aarskog-Scott syndrome, X-linked'
http://purl.obolibrary.org/obo/SCTID_312104005
'cholangiocarcinoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_312104005
http://purl.obolibrary.org/obo/MESH_C535325
http://purl.obolibrary.org/obo/MESH_C535325 EquivalentTo 'BH4-deficient hyperphenylalaninemia A'
http://purl.obolibrary.org/obo/MESH_C535310
http://purl.obolibrary.org/obo/MESH_C535310 EquivalentTo 'hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency'
http://purl.obolibrary.org/obo/MESH_C535313
http://purl.obolibrary.org/obo/MESH_C535313 EquivalentTo 'Ritscher-Schinzel syndrome'
http://purl.obolibrary.org/obo/MESH_C535314
http://purl.obolibrary.org/obo/MESH_C535314 EquivalentTo '3-M syndrome'
http://purl.obolibrary.org/obo/MESH_C535308
http://purl.obolibrary.org/obo/MESH_C535308 EquivalentTo '3-methylcrotonyl-CoA carboxylase 1 deficiency'
http://purl.obolibrary.org/obo/MESH_C535306
http://purl.obolibrary.org/obo/MESH_C535306 EquivalentTo '2-hydroxyglutaric aciduria'
http://purl.obolibrary.org/obo/GARD_0006500
http://purl.obolibrary.org/obo/GARD_0006500 EquivalentTo 'giant axonal neuropathy 1'
http://purl.obolibrary.org/obo/GARD_0006506
http://purl.obolibrary.org/obo/GARD_0006506 EquivalentTo 'pituitary gigantism'
http://purl.obolibrary.org/obo/GARD_0006518
http://purl.obolibrary.org/obo/GARD_0006518 EquivalentTo 'glossodynia'
http://purl.obolibrary.org/obo/GARD_0006516
http://purl.obolibrary.org/obo/GARD_0006516 EquivalentTo 'glomerulonephritis (disease)'
http://purl.obolibrary.org/obo/GARD_0006523
http://purl.obolibrary.org/obo/GARD_0006523 EquivalentTo 'multiple acyl-CoA dehydrogenase deficiency'
http://purl.obolibrary.org/obo/GARD_0006522
http://purl.obolibrary.org/obo/GARD_0006522 EquivalentTo 'glutaryl-CoA dehydrogenase deficiency'
http://purl.obolibrary.org/obo/GARD_0006529
http://purl.obolibrary.org/obo/GARD_0006529 EquivalentTo 'glycogen storage disease VI'
http://purl.obolibrary.org/obo/GARD_0006528
http://purl.obolibrary.org/obo/GARD_0006528 EquivalentTo 'glycogen storage disease V'
http://purl.obolibrary.org/obo/GARD_0006466
http://purl.obolibrary.org/obo/GARD_0006466 EquivalentTo 'freeman-Sheldon syndrome'
http://purl.obolibrary.org/obo/GARD_0006467
http://purl.obolibrary.org/obo/GARD_0006467 EquivalentTo 'Frey syndrome'
http://purl.obolibrary.org/obo/GARD_0006464
http://purl.obolibrary.org/obo/GARD_0006464 EquivalentTo 'fragile X syndrome'
http://purl.obolibrary.org/obo/GARD_0006476
http://purl.obolibrary.org/obo/GARD_0006476 EquivalentTo 'fumaric aciduria'
http://purl.obolibrary.org/obo/GARD_0006485
http://purl.obolibrary.org/obo/GARD_0006485 EquivalentTo 'MALT lymphoma'
http://purl.obolibrary.org/obo/GARD_0006482
http://purl.obolibrary.org/obo/GARD_0006482 EquivalentTo 'Gardner syndrome'
http://purl.obolibrary.org/obo/GARD_0006481
http://purl.obolibrary.org/obo/GARD_0006481 EquivalentTo 'autoerythrocyte sensitization syndrome'
http://purl.obolibrary.org/obo/GARD_0006499
http://purl.obolibrary.org/obo/GARD_0006499 EquivalentTo 'gonorrhea'
http://purl.obolibrary.org/obo/GARD_0006498
http://purl.obolibrary.org/obo/GARD_0006498 EquivalentTo 'gestational trophoblastic neoplasm'
http://purl.obolibrary.org/obo/GARD_0006493
http://purl.obolibrary.org/obo/GARD_0006493 EquivalentTo 'fissured tongue'
http://purl.obolibrary.org/obo/GARD_0006425
http://purl.obolibrary.org/obo/GARD_0006425 EquivalentTo 'Fanconi anemia'
http://purl.obolibrary.org/obo/SCTID_430725003
'patellofemoral pain syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_430725003
http://purl.obolibrary.org/obo/GARD_0006426
http://purl.obolibrary.org/obo/GARD_0006426 EquivalentTo 'Farber lipogranulomatosis'
http://purl.obolibrary.org/obo/GARD_0006447
http://purl.obolibrary.org/obo/GARD_0006447 EquivalentTo 'trimethylaminuria (disease)'
http://purl.obolibrary.org/obo/GARD_0006444
http://purl.obolibrary.org/obo/GARD_0006444 EquivalentTo 'fibrous dysplasia of bone'
http://purl.obolibrary.org/obo/GARD_0006445
http://purl.obolibrary.org/obo/GARD_0006445 EquivalentTo 'fibrodysplasia ossificans progressiva'
http://purl.obolibrary.org/obo/GARD_0006457
http://purl.obolibrary.org/obo/GARD_0006457 EquivalentTo 'focal dermal hypoplasia'
http://purl.obolibrary.org/obo/SCTID_266455006
'Aland island eye disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_266455006
http://purl.obolibrary.org/obo/SCTID_41679006
'TORCH syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_41679006
http://purl.obolibrary.org/obo/MESH_D001164
http://purl.obolibrary.org/obo/MESH_D001164 EquivalentTo 'congenital arteriovenous fistula'
http://purl.obolibrary.org/obo/MESH_D001167
http://purl.obolibrary.org/obo/MESH_D001167 EquivalentTo 'arteritis'
http://purl.obolibrary.org/obo/MESH_C535289
http://purl.obolibrary.org/obo/MESH_C535289 EquivalentTo 'Rapp-Hodgkin syndrome'
http://www.ebi.ac.uk/efo/EFO_0008533
'dyspepsia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008533
http://www.ebi.ac.uk/efo/EFO_0008520
'primary progressive multiple sclerosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008520
http://www.ebi.ac.uk/efo/EFO_0008521
'rhinitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008521
http://www.ebi.ac.uk/efo/EFO_0008522
'secondary progressive multiple sclerosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008522
http://www.ebi.ac.uk/efo/EFO_0008528
'urothelial carcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008528
http://www.ebi.ac.uk/efo/EFO_0008524
'small cell carcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008524
http://www.ebi.ac.uk/efo/EFO_0008525
'spinal muscular atrophy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008525
http://www.ebi.ac.uk/efo/EFO_0008526
'status epilepticus' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008526
http://www.ebi.ac.uk/efo/EFO_0008550
'hepatobiliary neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008550
http://www.ebi.ac.uk/efo/EFO_0008559
'Chagas disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008559
http://www.ebi.ac.uk/efo/EFO_0008545
'malignant breast phyllodes tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008545
http://www.ebi.ac.uk/efo/EFO_0008546
'poisoning' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008546
http://purl.obolibrary.org/obo/SCTID_388604008
'placental villitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_388604008
http://www.ebi.ac.uk/efo/EFO_0008549
'digestive system neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008549
http://www.ebi.ac.uk/efo/EFO_0008575
'osteochondrosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008575
http://www.ebi.ac.uk/efo/EFO_0008576
'Scheuermann disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008576
http://www.ebi.ac.uk/efo/EFO_0008571
'cluster headache syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008571
http://www.ebi.ac.uk/efo/EFO_0008574
'pathologic fracture' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008574
http://www.ebi.ac.uk/efo/EFO_0008581
'salivary gland disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008581
http://www.ebi.ac.uk/efo/EFO_0008560
'female infertility' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008560
http://www.ebi.ac.uk/efo/EFO_0008568
'sleep wake disorder' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008568
http://www.ebi.ac.uk/efo/EFO_0008597
'anti-p200 pemphigoid' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008597
http://www.ebi.ac.uk/efo/EFO_0008587
'gender identity disorder' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008587
http://www.ebi.ac.uk/efo/EFO_0008588
'peritonitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008588
http://www.ebi.ac.uk/efo/EFO_0008583
'acute myocardial infarction' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008583
http://www.ebi.ac.uk/efo/EFO_0008590
'status asthmaticus' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008590
http://purl.obolibrary.org/obo/SCTID_360525006
'congenital epulis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_360525006
http://purl.obolibrary.org/obo/SCTID_230282000
'traumatic encephalopathy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_230282000
http://purl.obolibrary.org/obo/GARD_0006400
http://purl.obolibrary.org/obo/GARD_0006400 EquivalentTo 'Fabry disease'
http://purl.obolibrary.org/obo/GARD_0006408
http://purl.obolibrary.org/obo/GARD_0006408 EquivalentTo 'classic familial adenomatous polyposis'
http://purl.obolibrary.org/obo/GARD_0006404
http://purl.obolibrary.org/obo/GARD_0006404 EquivalentTo 'congenital factor X deficiency'
http://purl.obolibrary.org/obo/GARD_0006352
http://purl.obolibrary.org/obo/GARD_0006352 EquivalentTo 'ependymoblastoma'
http://purl.obolibrary.org/obo/GARD_0006353
http://purl.obolibrary.org/obo/GARD_0006353 EquivalentTo 'ependymoma'
http://purl.obolibrary.org/obo/GARD_0006351
http://purl.obolibrary.org/obo/GARD_0006351 EquivalentTo 'eosinophilic fasciitis (disease)'
http://purl.obolibrary.org/obo/GARD_0006369
http://purl.obolibrary.org/obo/GARD_0006369 EquivalentTo 'Erdheim-Chester disease'
http://purl.obolibrary.org/obo/GARD_0006377
http://purl.obolibrary.org/obo/GARD_0006377 EquivalentTo 'primary erythermalgia'
http://purl.obolibrary.org/obo/GARD_0006308
http://purl.obolibrary.org/obo/GARD_0006308 EquivalentTo 'recessive dystrophic epidermolysis bullosa'
http://purl.obolibrary.org/obo/GARD_0006313
http://purl.obolibrary.org/obo/GARD_0006313 EquivalentTo 'Ebstein anomaly'
http://purl.obolibrary.org/obo/GARD_0006319
http://purl.obolibrary.org/obo/GARD_0006319 EquivalentTo 'split hand-foot malformation'
http://purl.obolibrary.org/obo/GARD_0006317
http://purl.obolibrary.org/obo/GARD_0006317 EquivalentTo 'ectodermal dysplasia syndrome'
http://purl.obolibrary.org/obo/GARD_0006321
http://purl.obolibrary.org/obo/GARD_0006321 EquivalentTo 'trisomy 18'
http://purl.obolibrary.org/obo/GARD_0006322
http://purl.obolibrary.org/obo/GARD_0006322 EquivalentTo 'Ehlers-Danlos syndrome'
http://purl.obolibrary.org/obo/GARD_0006329
http://purl.obolibrary.org/obo/GARD_0006329 EquivalentTo 'Emery-Dreifuss muscular dystrophy'
http://purl.obolibrary.org/obo/GARD_0006332
http://purl.obolibrary.org/obo/GARD_0006332 EquivalentTo 'encephalitis lethargica'
http://purl.obolibrary.org/obo/GARD_0006333
http://purl.obolibrary.org/obo/GARD_0006333 EquivalentTo 'isolated encephalocele'
http://purl.obolibrary.org/obo/GO_0005262
http://purl.obolibrary.org/obo/GARD_0006386
http://purl.obolibrary.org/obo/GARD_0006386 EquivalentTo 'Cryoglobulinemic vasculitis'
http://purl.obolibrary.org/obo/GARD_0006383
http://purl.obolibrary.org/obo/GARD_0006383 EquivalentTo 'esophageal cancer'
http://purl.obolibrary.org/obo/GARD_0006384
http://purl.obolibrary.org/obo/GARD_0006384 EquivalentTo 'esophageal varices'
http://purl.obolibrary.org/obo/GARD_0006398
http://purl.obolibrary.org/obo/GARD_0006398 EquivalentTo 'bladder exstrophy (disease)'
http://purl.obolibrary.org/obo/GARD_0006394
http://purl.obolibrary.org/obo/GARD_0006394 EquivalentTo 'lipid pneumonia'
http://purl.obolibrary.org/obo/GARD_0006393
http://purl.obolibrary.org/obo/GARD_0006393 EquivalentTo 'exfoliative dermatitis'
http://purl.obolibrary.org/obo/GARD_0006390
http://purl.obolibrary.org/obo/GARD_0006390 EquivalentTo 'Ewing sarcoma'
http://www.ebi.ac.uk/efo/EFO_0008510
'Lyme disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008510
http://www.ebi.ac.uk/efo/EFO_0008517
'radiation pneumonitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008517
http://www.ebi.ac.uk/efo/EFO_0008519
'primary hyperparathyroidism (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008519
http://purl.obolibrary.org/obo/SCTID_254806009
'blue nevus' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254806009
http://www.ebi.ac.uk/efo/EFO_0008515
'nodular malignant melanoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008515
http://www.ebi.ac.uk/efo/EFO_0008516
'non-functioning pituitary adenoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008516
http://www.ebi.ac.uk/efo/EFO_0008506
'hyperparathyroidism' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008506
http://www.ebi.ac.uk/efo/EFO_0008508
'large cell medulloblastoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008508
http://www.ebi.ac.uk/efo/EFO_0008509
'breast lobular carcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008509
http://purl.obolibrary.org/obo/NCIT_C121198
'nephrotic syndrome, type 4' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C121198
http://www.orpha.net/ORDO/Orphanet_394580
'type 1 diabetes mellitus 20' EquivalentTo http://www.orpha.net/ORDO/Orphanet_394580
http://www.ebi.ac.uk/efo/EFO_0008498
'clear cell sarcoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008498
http://www.ebi.ac.uk/efo/EFO_0008499
'DNA repair disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008499
http://www.ebi.ac.uk/efo/EFO_0008495
'pediatric supratentorial ependymoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008495
http://www.ebi.ac.uk/efo/EFO_0008496
'hepatitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008496
http://www.ebi.ac.uk/efo/EFO_0008490
'ampulla of vater adenocarcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008490
http://purl.obolibrary.org/obo/GARD_0006226
http://purl.obolibrary.org/obo/GARD_0006226 EquivalentTo 'primary cutaneous T-cell lymphoma'
http://purl.obolibrary.org/obo/GARD_0006224
http://purl.obolibrary.org/obo/GARD_0006224 EquivalentTo 'Cushing syndrome'
http://purl.obolibrary.org/obo/SCTID_416956002
'polyarticular arthritis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_416956002
http://purl.obolibrary.org/obo/GARD_0006228
http://purl.obolibrary.org/obo/GARD_0006228 EquivalentTo 'cutis marmorata telangiectatica congenita (disease)'
http://purl.obolibrary.org/obo/GARD_0006229
http://purl.obolibrary.org/obo/GARD_0006229 EquivalentTo 'cyclic hematopoiesis'
http://purl.obolibrary.org/obo/GARD_0006234
http://purl.obolibrary.org/obo/GARD_0006234 EquivalentTo 'cystic hygroma'
http://purl.obolibrary.org/obo/GARD_0006232
http://purl.obolibrary.org/obo/GARD_0006232 EquivalentTo 'congenital pulmonary airway malformation'
http://purl.obolibrary.org/obo/GARD_0006249
http://purl.obolibrary.org/obo/GARD_0006249 EquivalentTo 'malignant atrophic papulosis'
http://purl.obolibrary.org/obo/GARD_0006242
http://purl.obolibrary.org/obo/GARD_0006242 EquivalentTo 'Dandy-Walker syndrome'
http://purl.obolibrary.org/obo/GARD_0006243
http://purl.obolibrary.org/obo/GARD_0006243 EquivalentTo 'Darier disease'
http://purl.obolibrary.org/obo/GARD_0006240
http://purl.obolibrary.org/obo/GARD_0006240 EquivalentTo 'atypical hemolytic-uremic syndrome'
http://purl.obolibrary.org/obo/GARD_0006258
http://purl.obolibrary.org/obo/GARD_0006258 EquivalentTo 'dentinogenesis imperfecta (disease)'
http://purl.obolibrary.org/obo/GARD_0006254
http://purl.obolibrary.org/obo/GARD_0006254 EquivalentTo 'dengue disease'
http://purl.obolibrary.org/obo/SCTID_24043009
'malignant catarrh' EquivalentTo http://purl.obolibrary.org/obo/SCTID_24043009
http://purl.obolibrary.org/obo/GARD_0006202
http://purl.obolibrary.org/obo/GARD_0006202 EquivalentTo 'Cowden disease'
http://purl.obolibrary.org/obo/GARD_0006200
http://purl.obolibrary.org/obo/GARD_0006200 EquivalentTo 'coronary aneurysm'
http://purl.obolibrary.org/obo/GARD_0006209
http://purl.obolibrary.org/obo/GARD_0006209 EquivalentTo 'craniosynostosis'
http://purl.obolibrary.org/obo/GARD_0006213
http://purl.obolibrary.org/obo/GARD_0006213 EquivalentTo 'Cri-du-chat syndrome'
http://purl.obolibrary.org/obo/GARD_0006263
http://purl.obolibrary.org/obo/GARD_0006263 EquivalentTo 'dermatomyositis'
http://purl.obolibrary.org/obo/SCTID_77377001
'leptospirosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_77377001
http://purl.obolibrary.org/obo/GARD_0006275
http://purl.obolibrary.org/obo/GARD_0006275 EquivalentTo 'diastrophic dysplasia'
http://purl.obolibrary.org/obo/GARD_0006274
http://purl.obolibrary.org/obo/GARD_0006274 EquivalentTo 'Diamond-Blackfan anemia'
http://purl.obolibrary.org/obo/GARD_0006289
http://purl.obolibrary.org/obo/GARD_0006289 EquivalentTo 'Dubin-Johnson syndrome'
http://purl.obolibrary.org/obo/GARD_0006295
http://purl.obolibrary.org/obo/GARD_0006295 EquivalentTo 'Dyggve-Melchior-Clausen disease'
http://purl.obolibrary.org/obo/SCTID_79471008
'sudden sensorineural hearing loss' EquivalentTo http://purl.obolibrary.org/obo/SCTID_79471008
http://purl.obolibrary.org/obo/MESH_C535692
http://purl.obolibrary.org/obo/MESH_C535692 EquivalentTo 'male pseudohermaphroditism due to defective lh molecule'
http://purl.obolibrary.org/obo/MESH_C535693
http://purl.obolibrary.org/obo/MESH_C535693 EquivalentTo 'disorder of sex development-intellectual disability syndrome'
http://purl.obolibrary.org/obo/NCIT_C131084
'cortisone reductase deficiency 2' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C131084
http://purl.obolibrary.org/obo/MESH_C535676
http://purl.obolibrary.org/obo/MESH_C535676 EquivalentTo 'richieri-costa guion-almeida cohen syndrome'
http://purl.obolibrary.org/obo/MESH_C535669
http://purl.obolibrary.org/obo/MESH_C535669 EquivalentTo 'actinic cheilitis'
http://purl.obolibrary.org/obo/SCTID_89579000
'arakawa syndrome 2' EquivalentTo http://purl.obolibrary.org/obo/SCTID_89579000
http://purl.obolibrary.org/obo/SCTID_1112003
'eyelid degenerative disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_1112003
http://purl.obolibrary.org/obo/MESH_D064419
http://purl.obolibrary.org/obo/MESH_D064419 EquivalentTo 'chemically-induced disorders'
http://purl.obolibrary.org/obo/MESH_D015490
http://purl.obolibrary.org/obo/MESH_D015490 EquivalentTo 'human T-lymphotropic virus 1 infectious disease'
http://purl.obolibrary.org/obo/MESH_D015418
http://purl.obolibrary.org/obo/MESH_D015418 EquivalentTo 'hereditary optic atrophy'
http://purl.obolibrary.org/obo/NCIT_C131079
'familial isolated hypoparathyroidism due to agenesis of parathyroid gland' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C131079
http://purl.obolibrary.org/obo/NCIT_C131076
'vitamin D-dependent rickets, type 2B' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C131076
http://purl.obolibrary.org/obo/MESH_C535591
http://purl.obolibrary.org/obo/MESH_C535591 EquivalentTo 'partial deletion of the short arm of chromosome 1'
http://purl.obolibrary.org/obo/SCTID_92821006
'facial cleft' EquivalentTo http://purl.obolibrary.org/obo/SCTID_92821006
http://purl.obolibrary.org/obo/MESH_C535774
http://purl.obolibrary.org/obo/MESH_C535774 EquivalentTo 'piepkorn karp hickok syndrome'
http://purl.obolibrary.org/obo/MESH_C535776
http://purl.obolibrary.org/obo/MESH_C535776 EquivalentTo 'Weissenbacher-Zweymuller syndrome'
http://purl.obolibrary.org/obo/GARD_0006905
http://purl.obolibrary.org/obo/GARD_0006905 EquivalentTo 'lichen sclerosus et atrophicus'
http://purl.obolibrary.org/obo/GARD_0006901
http://purl.obolibrary.org/obo/GARD_0006901 EquivalentTo 'Lhermitte-Duclos disease'
http://purl.obolibrary.org/obo/GARD_0006902
http://purl.obolibrary.org/obo/GARD_0006902 EquivalentTo 'Li-Fraumeni syndrome'
http://purl.obolibrary.org/obo/MESH_C535752
http://purl.obolibrary.org/obo/MESH_C535752 EquivalentTo 'MGAT2-CDG'
http://purl.obolibrary.org/obo/GARD_0006915
http://purl.obolibrary.org/obo/GARD_0006915 EquivalentTo 'listeriosis'
http://purl.obolibrary.org/obo/SCTID_270494003
'acute papillary necrosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_270494003
http://purl.obolibrary.org/obo/GARD_0006986
http://purl.obolibrary.org/obo/GARD_0006986 EquivalentTo 'MASA syndrome'
http://purl.obolibrary.org/obo/GARD_0006984
http://purl.obolibrary.org/obo/GARD_0006984 EquivalentTo 'Marshall syndrome'
http://purl.obolibrary.org/obo/SCTID_363681007
'pregnancy disorder with abortive outcome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_363681007
http://purl.obolibrary.org/obo/GARD_0006987
http://purl.obolibrary.org/obo/GARD_0006987 EquivalentTo 'mastocytosis'
http://purl.obolibrary.org/obo/GARD_0006995
http://purl.obolibrary.org/obo/GARD_0006995 EquivalentTo 'McCune-Albright syndrome'
http://purl.obolibrary.org/obo/GARD_0006992
http://purl.obolibrary.org/obo/GARD_0006992 EquivalentTo 'binder syndrome'
http://purl.obolibrary.org/obo/ICD10_O00.O08
http://purl.obolibrary.org/obo/ICD10_O00.O08 EquivalentTo 'pregnancy disorder with abortive outcome'
http://purl.obolibrary.org/obo/SCTID_715656004
'aplasia of lacrimal and salivary glands' EquivalentTo http://purl.obolibrary.org/obo/SCTID_715656004
http://purl.obolibrary.org/obo/SCTID_448233000
'malignant urinary system neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_448233000
http://purl.obolibrary.org/obo/GARD_0006945
http://purl.obolibrary.org/obo/GARD_0006945 EquivalentTo 'autoimmune thyroid disease'
http://purl.obolibrary.org/obo/GARD_0006953
http://purl.obolibrary.org/obo/GARD_0006953 EquivalentTo 'macular corneal dystrophy'
http://purl.obolibrary.org/obo/GARD_0006950
http://purl.obolibrary.org/obo/GARD_0006950 EquivalentTo 'megalencephaly-capillary malformation-polymicrogyria syndrome'
http://purl.obolibrary.org/obo/GARD_0006951
http://purl.obolibrary.org/obo/GARD_0006951 EquivalentTo 'macrodactyly of toes'
http://purl.obolibrary.org/obo/GARD_0006959
http://purl.obolibrary.org/obo/GARD_0006959 EquivalentTo 'mal de Debarquement'
http://purl.obolibrary.org/obo/GARD_0006969
http://purl.obolibrary.org/obo/GARD_0006969 EquivalentTo 'mantle cell lymphoma'
http://purl.obolibrary.org/obo/GARD_0006967
http://purl.obolibrary.org/obo/GARD_0006967 EquivalentTo 'Mallory-Weiss syndrome'
http://purl.obolibrary.org/obo/GARD_0006966
http://purl.obolibrary.org/obo/GARD_0006966 EquivalentTo 'carcinosarcoma'
http://purl.obolibrary.org/obo/GARD_0006974
http://purl.obolibrary.org/obo/GARD_0006974 EquivalentTo 'neurolymphomatosis'
http://purl.obolibrary.org/obo/GARD_0006972
http://purl.obolibrary.org/obo/GARD_0006972 EquivalentTo 'jaw-winking syndrome'
http://purl.obolibrary.org/obo/GARD_0006973
http://purl.obolibrary.org/obo/GARD_0006973 EquivalentTo 'Marden-Walker syndrome'
http://purl.obolibrary.org/obo/SCTID_85983004
'radiation-induced disorder' EquivalentTo http://purl.obolibrary.org/obo/SCTID_85983004
http://purl.obolibrary.org/obo/NCIT_C96520
'MUTYH-related attenuated familial adenomatous polyposis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C96520
http://purl.obolibrary.org/obo/NCIT_C121747
'hypothyroidism due to iodide transport defect' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C121747
http://purl.obolibrary.org/obo/NCIT_C121750
'thyroid dyshormonogenesis 2A' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C121750
http://purl.obolibrary.org/obo/NCIT_C4000
'uterine cervix carcinoma in situ' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C4000
http://purl.obolibrary.org/obo/SCTID_31798004
'brittle cornea syndrome 1' EquivalentTo http://purl.obolibrary.org/obo/SCTID_31798004
http://purl.obolibrary.org/obo/NCIT_C131195
'eunuchism' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C131195
http://purl.obolibrary.org/obo/SCTID_88037009
'tertiary lesion of yaws' EquivalentTo http://purl.obolibrary.org/obo/SCTID_88037009
http://www.ebi.ac.uk/efo/EFO_0008610
'ocular cicatricial pemphigoid' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008610
http://www.ebi.ac.uk/efo/EFO_0008617
'autosomal dominant medullary cystic kidney disease with or without hyperuricemia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008617
http://www.ebi.ac.uk/efo/EFO_0008618
'medullary cystic kidney disease 2' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008618
http://www.ebi.ac.uk/efo/EFO_0008619
'bullous systemic lupus erythematosus' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008619
http://www.ebi.ac.uk/efo/EFO_0008613
'pemphigus vegetans' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008613
http://purl.obolibrary.org/obo/SCTID_718193005
'peripheral resistance to thyroid hormones' EquivalentTo http://purl.obolibrary.org/obo/SCTID_718193005
http://www.ebi.ac.uk/efo/EFO_0008601
'pemphigus foliaceus' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008601
http://www.ebi.ac.uk/efo/EFO_0008602
'paraneoplastic pemphigus' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008602
http://www.ebi.ac.uk/efo/EFO_0008603
'pemphigus erythematosus' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008603
http://www.ebi.ac.uk/efo/EFO_0008623
'dysthymic disorder' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008623
http://purl.obolibrary.org/obo/SCTID_14911005
'chilaiditi syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_14911005
http://purl.obolibrary.org/obo/SCTID_445238008
'atypical carcinoid tumor' EquivalentTo http://purl.obolibrary.org/obo/SCTID_445238008
http://purl.obolibrary.org/obo/SCTID_23697004
'crush syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_23697004
http://purl.obolibrary.org/obo/GARD_0006807
http://purl.obolibrary.org/obo/GARD_0006807 EquivalentTo 'hyaline fibromatosis syndrome'
http://purl.obolibrary.org/obo/GARD_0006802
http://purl.obolibrary.org/obo/GARD_0006802 EquivalentTo 'Joubert syndrome'
http://purl.obolibrary.org/obo/GARD_0006803
http://purl.obolibrary.org/obo/GARD_0006803 EquivalentTo 'Jumping Frenchmen of Maine'
http://purl.obolibrary.org/obo/GARD_0006801
http://purl.obolibrary.org/obo/GARD_0006801 EquivalentTo 'Machado-Joseph disease'
http://purl.obolibrary.org/obo/GARD_0006810
http://purl.obolibrary.org/obo/GARD_0006810 EquivalentTo 'Kabuki syndrome'
http://purl.obolibrary.org/obo/GARD_0006859
http://purl.obolibrary.org/obo/GARD_0006859 EquivalentTo 'Laron syndrome'
http://purl.obolibrary.org/obo/GARD_0006858
http://purl.obolibrary.org/obo/GARD_0006858 EquivalentTo 'Langerhans cell histiocytosis'
http://purl.obolibrary.org/obo/GARD_0006865
http://purl.obolibrary.org/obo/GARD_0006865 EquivalentTo 'congenital laryngomalacia'
http://purl.obolibrary.org/obo/GARD_0006862
http://purl.obolibrary.org/obo/GARD_0006862 EquivalentTo 'laryngeal carcinoma'
http://purl.obolibrary.org/obo/GARD_0006867
http://purl.obolibrary.org/obo/GARD_0006867 EquivalentTo 'long chain 3-hydroxyacyl-CoA dehydrogenase deficiency'
http://purl.obolibrary.org/obo/GARD_0006876
http://purl.obolibrary.org/obo/GARD_0006876 EquivalentTo 'legionnaire disease, susceptibility to'
http://purl.obolibrary.org/obo/GARD_0006870
http://purl.obolibrary.org/obo/GARD_0006870 EquivalentTo 'Leber hereditary optic neuropathy'
http://purl.obolibrary.org/obo/GARD_0006877
http://purl.obolibrary.org/obo/GARD_0006877 EquivalentTo 'Leigh disease'
http://purl.obolibrary.org/obo/GARD_0006878
http://purl.obolibrary.org/obo/GARD_0006878 EquivalentTo 'complement component 5 deficiency'
http://purl.obolibrary.org/obo/GARD_0006886
http://purl.obolibrary.org/obo/GARD_0006886 EquivalentTo 'leprosy'
http://purl.obolibrary.org/obo/GARD_0006885
http://purl.obolibrary.org/obo/GARD_0006885 EquivalentTo 'Donohue syndrome'
http://purl.obolibrary.org/obo/GARD_0006881
http://purl.obolibrary.org/obo/GARD_0006881 EquivalentTo 'leishmaniasis'
http://purl.obolibrary.org/obo/GARD_0006897
http://purl.obolibrary.org/obo/GARD_0006897 EquivalentTo 'leukoplakia'
http://purl.obolibrary.org/obo/GARD_0006893
http://purl.obolibrary.org/obo/GARD_0006893 EquivalentTo 'leukocyte adhesion deficiency 1'
http://purl.obolibrary.org/obo/GARD_0006892
http://purl.obolibrary.org/obo/GARD_0006892 EquivalentTo 'aleukemic leukemia cutis'
http://purl.obolibrary.org/obo/GARD_0006818
http://purl.obolibrary.org/obo/GARD_0006818 EquivalentTo 'Kennedy disease'
http://purl.obolibrary.org/obo/GARD_0006816
http://purl.obolibrary.org/obo/GARD_0006816 EquivalentTo 'mucocutaneous lymph node syndrome'
http://purl.obolibrary.org/obo/GARD_0006814
http://purl.obolibrary.org/obo/GARD_0006814 EquivalentTo 'Kaposi's sarcoma (disease)'
http://purl.obolibrary.org/obo/GARD_0006821
http://purl.obolibrary.org/obo/GARD_0006821 EquivalentTo 'Muir-Torre syndrome'
http://purl.obolibrary.org/obo/UBERON_0005740
http://purl.obolibrary.org/obo/GARD_0006829
http://purl.obolibrary.org/obo/GARD_0006829 EquivalentTo 'keratosis follicularis spinulosa decalvans'
http://purl.obolibrary.org/obo/GARD_0006824
http://purl.obolibrary.org/obo/GARD_0006824 EquivalentTo 'keratoconus (disease)'
http://purl.obolibrary.org/obo/GARD_0006830
http://purl.obolibrary.org/obo/GARD_0006830 EquivalentTo 'bilirubin encephalopathy'
http://purl.obolibrary.org/obo/GARD_0006834
http://purl.obolibrary.org/obo/GARD_0006834 EquivalentTo 'Kikuchi-Fujimoto disease'
http://purl.obolibrary.org/obo/GARD_0006848
http://purl.obolibrary.org/obo/GARD_0006848 EquivalentTo 'LADD syndrome'
http://purl.obolibrary.org/obo/GARD_0006844
http://purl.obolibrary.org/obo/GARD_0006844 EquivalentTo 'Krabbe disease'
http://purl.obolibrary.org/obo/GARD_0006845
http://purl.obolibrary.org/obo/GARD_0006845 EquivalentTo 'neuronal ceroid lipofuscinosis 4A'
http://purl.obolibrary.org/obo/MESH_D050032
http://purl.obolibrary.org/obo/MESH_D050032 EquivalentTo 'postpartum thyroiditis'
http://purl.obolibrary.org/obo/NCBITaxon_32008
http://purl.obolibrary.org/obo/GARD_0006778
http://purl.obolibrary.org/obo/GARD_0006778 EquivalentTo 'Bloch-Sulzberger syndrome'
http://purl.obolibrary.org/obo/GARD_0006779
http://purl.obolibrary.org/obo/GARD_0006779 EquivalentTo 'infantile apnea'
http://purl.obolibrary.org/obo/GARD_0006784
http://purl.obolibrary.org/obo/GARD_0006784 EquivalentTo 'inflammatory breast carcinoma'
http://purl.obolibrary.org/obo/SCTID_63922003
'chronic endometritis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_63922003
http://purl.obolibrary.org/obo/GARD_0006799
http://purl.obolibrary.org/obo/GARD_0006799 EquivalentTo 'atresia of small intestine'
http://purl.obolibrary.org/obo/GARD_0006795
http://purl.obolibrary.org/obo/GARD_0006795 EquivalentTo 'right atrial isomerism (disease)'
http://purl.obolibrary.org/obo/GARD_0006793
http://purl.obolibrary.org/obo/GARD_0006793 EquivalentTo 'Isaac syndrome'
http://purl.obolibrary.org/obo/GARD_0006791
http://purl.obolibrary.org/obo/GARD_0006791 EquivalentTo 'Fuchs heterochromic iridocyclitis'
http://purl.obolibrary.org/obo/SCTID_67915005
'dientamoebiasis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_67915005
http://purl.obolibrary.org/obo/MESH_C535372
http://purl.obolibrary.org/obo/MESH_C535372 EquivalentTo 'chromosome 20 trisomy'
http://purl.obolibrary.org/obo/MESH_C535370
http://purl.obolibrary.org/obo/MESH_C535370 EquivalentTo 'partial monosomy of the short arm of chromosome 20'
http://purl.obolibrary.org/obo/MESH_D001028
http://purl.obolibrary.org/obo/MESH_D001028 EquivalentTo 'aortopulmonary window'
http://purl.obolibrary.org/obo/MESH_C535367
http://purl.obolibrary.org/obo/MESH_C535367 EquivalentTo 'partial duplication of the long arm of chromosome 2'
http://purl.obolibrary.org/obo/MESH_D015651
http://purl.obolibrary.org/obo/MESH_D015651 EquivalentTo 'mycotoxicosis'
http://purl.obolibrary.org/obo/SCTID_5913000
'femoral neck fracture' EquivalentTo http://purl.obolibrary.org/obo/SCTID_5913000
http://www.ebi.ac.uk/efo/EFO_0008929
'proximal spinal muscular atrophy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008929
http://www.ebi.ac.uk/efo/EFO_0008965
'tarsal-carpal coalition syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008965
http://purl.obolibrary.org/obo/SCTID_123973009
'Monteggia's fracture' EquivalentTo http://purl.obolibrary.org/obo/SCTID_123973009
http://purl.obolibrary.org/obo/SCTID_19168005
'nosocomial infection' EquivalentTo http://purl.obolibrary.org/obo/SCTID_19168005
http://www.ebi.ac.uk/efo/EFO_0008989
'SHOX-related short stature' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008989
http://purl.obolibrary.org/obo/MESH_C535530
http://purl.obolibrary.org/obo/MESH_C535530 EquivalentTo 'mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency'
http://www.ebi.ac.uk/efo/EFO_0008899
'pregnancy loss, recurrent, susceptibility to, 1' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008899
http://purl.obolibrary.org/obo/MESH_C535526
http://purl.obolibrary.org/obo/MESH_C535526 EquivalentTo 'aquarium granuloma'
http://purl.obolibrary.org/obo/MESH_C535517
http://purl.obolibrary.org/obo/MESH_C535517 EquivalentTo 'refsum disease with increased pipecolic acidemia'
http://purl.obolibrary.org/obo/MESH_C535564
http://purl.obolibrary.org/obo/MESH_C535564 EquivalentTo 'absent tibia-polydactyly syndrome'
http://purl.obolibrary.org/obo/MESH_C535561
http://purl.obolibrary.org/obo/MESH_C535561 EquivalentTo 'gluteal muscles, absence of'
http://purl.obolibrary.org/obo/MESH_C535551
http://purl.obolibrary.org/obo/MESH_C535551 EquivalentTo 'pemphigus and fogo selvagem'
http://purl.obolibrary.org/obo/MESH_C535556
http://purl.obolibrary.org/obo/MESH_C535556 EquivalentTo 'syndromic X-linked intellectual disability Abidi type'
http://purl.obolibrary.org/obo/GARD_0006739
http://purl.obolibrary.org/obo/GARD_0006739 EquivalentTo 'hypoplastic left heart syndrome'
http://purl.obolibrary.org/obo/GARD_0006734
http://purl.obolibrary.org/obo/GARD_0006734 EquivalentTo 'hypophosphatasia'
http://purl.obolibrary.org/obo/GARD_0006749
http://purl.obolibrary.org/obo/GARD_0006749 EquivalentTo 'inclusion-cell disease'
http://purl.obolibrary.org/obo/GARD_0006763
http://purl.obolibrary.org/obo/GARD_0006763 EquivalentTo 'pulmonary hemosiderosis'
http://purl.obolibrary.org/obo/GARD_0006760
http://purl.obolibrary.org/obo/GARD_0006760 EquivalentTo 'idiopathic juvenile osteoporosis'
http://purl.obolibrary.org/obo/GARD_0006769
http://purl.obolibrary.org/obo/GARD_0006769 EquivalentTo 'anus, imperforate'
http://purl.obolibrary.org/obo/GARD_0006768
http://purl.obolibrary.org/obo/GARD_0006768 EquivalentTo 'thrombocytopenia due to immune destruction'
http://purl.obolibrary.org/obo/GARD_0006770
http://purl.obolibrary.org/obo/GARD_0006770 EquivalentTo 'inherited amino acid metabolic disorder'
http://purl.obolibrary.org/obo/GARD_0006703
http://purl.obolibrary.org/obo/GARD_0006703 EquivalentTo 'hyperlipoproteinemia type 3'
http://purl.obolibrary.org/obo/GARD_0006722
http://purl.obolibrary.org/obo/GARD_0006722 EquivalentTo 'adrenocortical insufficiency'
http://purl.obolibrary.org/obo/GARD_0006731
http://purl.obolibrary.org/obo/GARD_0006731 EquivalentTo 'dilution, pigmentary'
http://purl.obolibrary.org/obo/GARD_0006666
http://purl.obolibrary.org/obo/GARD_0006666 EquivalentTo 'Holt-Oram syndrome'
http://purl.obolibrary.org/obo/GARD_0006660
http://purl.obolibrary.org/obo/GARD_0006660 EquivalentTo 'Hirschsprung disease'
http://purl.obolibrary.org/obo/GARD_0006677
http://purl.obolibrary.org/obo/GARD_0006677 EquivalentTo 'Huntington disease'
http://purl.obolibrary.org/obo/GARD_0006675
http://purl.obolibrary.org/obo/GARD_0006675 EquivalentTo 'mucopolysaccharidosis type 2'
http://www.orpha.net/ORDO/Orphanet_101335
'Indian tick typhus' EquivalentTo http://www.orpha.net/ORDO/Orphanet_101335
http://purl.obolibrary.org/obo/GARD_0006682
http://purl.obolibrary.org/obo/GARD_0006682 EquivalentTo 'hydrocephalus, nonsyndromic, autosomal recessive 1'
http://purl.obolibrary.org/obo/GARD_0006681
http://purl.obolibrary.org/obo/GARD_0006681 EquivalentTo 'hydranencephaly (disease)'
http://purl.obolibrary.org/obo/MESH_C535499
http://purl.obolibrary.org/obo/MESH_C535499 EquivalentTo 'rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome'
http://www.ebi.ac.uk/efo/EFO_0008816
'recessive mitochondrial ataxia syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008816
http://purl.obolibrary.org/obo/SCTID_3398004
'cadmium poisoning' EquivalentTo http://purl.obolibrary.org/obo/SCTID_3398004
http://www.ebi.ac.uk/efo/EFO_0008878
'dyschromatosis symmetrica hereditaria' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008878
http://www.ebi.ac.uk/efo/EFO_0008864
'progressive muscular atrophy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008864
http://purl.obolibrary.org/obo/NCIT_C121572
'complex regional pain syndrome type 2' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C121572
http://purl.obolibrary.org/obo/GARD_0004835
http://purl.obolibrary.org/obo/GARD_0004835 EquivalentTo 'short rib-polydactyly syndrome, Verma-Naumoff type'
http://purl.obolibrary.org/obo/GARD_0004838
http://purl.obolibrary.org/obo/GARD_0004838 EquivalentTo 'short stature, Brussels type'
http://purl.obolibrary.org/obo/GARD_0004832
http://purl.obolibrary.org/obo/GARD_0004832 EquivalentTo 'Beemer-Langer syndrome'
http://purl.obolibrary.org/obo/GARD_0004834
http://purl.obolibrary.org/obo/GARD_0004834 EquivalentTo 'short rib-polydactyly syndrome, Saldino-Noonan type'
http://purl.obolibrary.org/obo/GARD_0004833
http://purl.obolibrary.org/obo/GARD_0004833 EquivalentTo 'short rib-polydactyly syndrome, Majewski type'
http://purl.obolibrary.org/obo/GARD_0004841
http://purl.obolibrary.org/obo/GARD_0004841 EquivalentTo 'short stature-deafness-neutrophil dysfunction-dysmorphism syndrome'
http://purl.obolibrary.org/obo/SCTID_404038007
'epithelioid malignant peripheral nerve sheath tumor' EquivalentTo http://purl.obolibrary.org/obo/SCTID_404038007
http://purl.obolibrary.org/obo/GARD_0004856
http://purl.obolibrary.org/obo/GARD_0004856 EquivalentTo 'short stature-wormian bones-dextrocardia syndrome'
http://purl.obolibrary.org/obo/GARD_0004861
http://purl.obolibrary.org/obo/GARD_0004861 EquivalentTo 'Shprintzen-Goldberg syndrome'
http://purl.obolibrary.org/obo/GARD_0004860
http://purl.obolibrary.org/obo/GARD_0004860 EquivalentTo 'shoulder and girdle defects-familial intellectual disability syndrome'
http://purl.obolibrary.org/obo/NCIT_C4548
'orbital dermoid cyst' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C4548
http://purl.obolibrary.org/obo/GARD_0004869
http://purl.obolibrary.org/obo/GARD_0004869 EquivalentTo 'Sillence syndrome'
http://purl.obolibrary.org/obo/GARD_0004865
http://purl.obolibrary.org/obo/GARD_0004865 EquivalentTo 'sialuria'
http://purl.obolibrary.org/obo/SCTID_254222002
'autosomal recessive cutis laxa type 1' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254222002
http://purl.obolibrary.org/obo/GARD_0004873
http://purl.obolibrary.org/obo/GARD_0004873 EquivalentTo 'flat face-microstomia-ear anomaly syndrome'
http://purl.obolibrary.org/obo/GARD_0004870
http://purl.obolibrary.org/obo/GARD_0004870 EquivalentTo 'Silver-Russell syndrome'
http://purl.obolibrary.org/obo/GARD_0004805
http://purl.obolibrary.org/obo/GARD_0004805 EquivalentTo 'ankyloblepharon-ectodermal defects-cleft lip/palate syndrome'
http://purl.obolibrary.org/obo/GARD_0004801
http://purl.obolibrary.org/obo/GARD_0004801 EquivalentTo 'enamel hypoplasia, cataracts, and aqueductal stenosis'
http://purl.obolibrary.org/obo/GARD_0004815
http://purl.obolibrary.org/obo/GARD_0004815 EquivalentTo 'spontaneous periodic hypothermia'
http://purl.obolibrary.org/obo/GARD_0004823
http://purl.obolibrary.org/obo/GARD_0004823 EquivalentTo 'short limb dwarf lethal colavita kozlowski type'
http://purl.obolibrary.org/obo/MESH_D052065
http://purl.obolibrary.org/obo/MESH_D052065 EquivalentTo 'vaginismus'
http://purl.obolibrary.org/obo/SCTID_721736003
'burkholderia infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_721736003
http://purl.obolibrary.org/obo/GARD_0004877
http://purl.obolibrary.org/obo/GARD_0004877 EquivalentTo 'solitary median maxillary central incisor syndrome'
http://purl.obolibrary.org/obo/GARD_0004883
http://purl.obolibrary.org/obo/GARD_0004883 EquivalentTo 'situs inversus'
http://purl.obolibrary.org/obo/GARD_0004885
http://purl.obolibrary.org/obo/GARD_0004885 EquivalentTo 'Sjogren-Larsson-like ichthyosis without CNS or eye involvement'
http://purl.obolibrary.org/obo/SCTID_69550000
'fascioloidiasis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_69550000
http://purl.obolibrary.org/obo/GARD_0004891
http://purl.obolibrary.org/obo/GARD_0004891 EquivalentTo 'spondyloepimetaphyseal dysplasia, Bieganski type'
http://purl.obolibrary.org/obo/GARD_0004898
http://purl.obolibrary.org/obo/GARD_0004898 EquivalentTo 'soft tissue sarcoma'
http://purl.obolibrary.org/obo/MESH_D017676
http://purl.obolibrary.org/obo/MESH_D017676 EquivalentTo 'lichen planus, oral'
http://purl.obolibrary.org/obo/NCIT_C118438
'autosomal recessive osteopetrosis 3' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C118438
http://purl.obolibrary.org/obo/MESH_D003027
http://purl.obolibrary.org/obo/MESH_D003027 EquivalentTo 'cluster headache syndrome'
http://purl.obolibrary.org/obo/SCTID_12694001
'anterior compartment syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_12694001
http://purl.obolibrary.org/obo/NCIT_C62602
'secondary adrenal insufficiency' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C62602
http://purl.obolibrary.org/obo/GARD_0004712
http://purl.obolibrary.org/obo/GARD_0004712 EquivalentTo 'richieri-costa guion-almeida cohen syndrome'
http://purl.obolibrary.org/obo/GARD_0004729
http://purl.obolibrary.org/obo/GARD_0004729 EquivalentTo 'robin sequence-oligodactyly syndrome'
http://purl.obolibrary.org/obo/GARD_0004722
http://purl.obolibrary.org/obo/GARD_0004722 EquivalentTo '8q22.1 microdeletion syndrome'
http://purl.obolibrary.org/obo/GARD_0004721
http://purl.obolibrary.org/obo/GARD_0004721 EquivalentTo 'isolated right ventricular hypoplasia'
http://purl.obolibrary.org/obo/GARD_0004723
http://purl.obolibrary.org/obo/GARD_0004723 EquivalentTo 'rigid spine syndrome'
http://purl.obolibrary.org/obo/GARD_0004739
http://purl.obolibrary.org/obo/GARD_0004739 EquivalentTo 'short stature-heart defect-craniofacial anomalies syndrome'
http://purl.obolibrary.org/obo/GARD_0004741
http://purl.obolibrary.org/obo/GARD_0004741 EquivalentTo 'Roussy-LC)vy syndrome'
http://purl.obolibrary.org/obo/SCTID_446643000
'dendritic cell sarcoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_446643000
http://purl.obolibrary.org/obo/GARD_0004747
http://purl.obolibrary.org/obo/GARD_0004747 EquivalentTo 'ruvalcaba churesigaew myhre syndrome'
http://purl.obolibrary.org/obo/GARD_0004744
http://purl.obolibrary.org/obo/GARD_0004744 EquivalentTo 'congenital rubella syndrome'
http://purl.obolibrary.org/obo/GARD_0004745
http://purl.obolibrary.org/obo/GARD_0004745 EquivalentTo 'rubinstein taybi like syndrome'
http://purl.obolibrary.org/obo/GARD_0004751
http://purl.obolibrary.org/obo/GARD_0004751 EquivalentTo 'familial caudal dysgenesis'
http://purl.obolibrary.org/obo/GARD_0004752
http://purl.obolibrary.org/obo/GARD_0004752 EquivalentTo 'Kousseff syndrome'
http://www.ebi.ac.uk/efo/EFO_0002916
'carcinoma of esophagus' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0002916
http://purl.obolibrary.org/obo/GARD_0004704
http://purl.obolibrary.org/obo/GARD_0004704 EquivalentTo 'polymyalgia rheumatica'
http://purl.obolibrary.org/obo/GARD_0004705
http://purl.obolibrary.org/obo/GARD_0004705 EquivalentTo 'rhizomelic syndrome, Urbach type'
http://purl.obolibrary.org/obo/GARD_0004702
http://purl.obolibrary.org/obo/GARD_0004702 EquivalentTo 'embryonal rhabdomyosarcoma (disease)'
http://purl.obolibrary.org/obo/GARD_0004701
http://purl.obolibrary.org/obo/GARD_0004701 EquivalentTo 'alveolar rhabdomyosarcoma (disease)'
http://purl.obolibrary.org/obo/NCIT_C4472
'cutaneous mucoepidermoid carcinoma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C4472
http://purl.obolibrary.org/obo/SCTID_715432009
'fibromatosis multiple non ossifying' EquivalentTo http://purl.obolibrary.org/obo/SCTID_715432009
http://purl.obolibrary.org/obo/NCIT_C118634
'Norrie disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C118634
http://purl.obolibrary.org/obo/SCTID_255006004
'conjunctival nevus' EquivalentTo http://purl.obolibrary.org/obo/SCTID_255006004
http://purl.obolibrary.org/obo/GARD_0004769
http://purl.obolibrary.org/obo/GARD_0004769 EquivalentTo 'Ullrich congenital muscular dystrophy'
http://purl.obolibrary.org/obo/GARD_0004768
http://purl.obolibrary.org/obo/GARD_0004768 EquivalentTo 'neurofibromatosis type 3'
http://purl.obolibrary.org/obo/GARD_0004775
http://purl.obolibrary.org/obo/GARD_0004775 EquivalentTo 'Aarskog-Scott syndrome, X-linked'
http://purl.obolibrary.org/obo/GARD_0004774
http://purl.obolibrary.org/obo/GARD_0004774 EquivalentTo 'succinyl-CoA:3-ketoacid CoA transferase deficiency'
http://purl.obolibrary.org/obo/GARD_0004771
http://purl.obolibrary.org/obo/GARD_0004771 EquivalentTo 'sclerosteosis'
http://purl.obolibrary.org/obo/GARD_0004778
http://purl.obolibrary.org/obo/GARD_0004778 EquivalentTo 'facial dysmorphism-shawl scrotum-joint laxity syndrome'
http://purl.obolibrary.org/obo/GARD_0004791
http://purl.obolibrary.org/obo/GARD_0004791 EquivalentTo 'renal hypodysplasia/aplasia 1'
http://purl.obolibrary.org/obo/MESH_D017564
http://purl.obolibrary.org/obo/MESH_D017564 EquivalentTo 'radiation pneumonitis'
http://purl.obolibrary.org/obo/SCTID_240417004
'aquarium granuloma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_240417004
http://purl.obolibrary.org/obo/SCTID_444545003
'brain stem glioma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_444545003
http://purl.obolibrary.org/obo/SCTID_74181004
'female genital tuberculosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_74181004
http://purl.obolibrary.org/obo/GARD_0004600
http://purl.obolibrary.org/obo/GARD_0004600 EquivalentTo 'pulmonary atresia-intact ventricular septum syndrome'
http://purl.obolibrary.org/obo/GARD_0004616
http://purl.obolibrary.org/obo/GARD_0004616 EquivalentTo 'pyridoxine deficiency anemia'
http://purl.obolibrary.org/obo/SCTID_19877001
'rhinophyma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_19877001
http://purl.obolibrary.org/obo/GARD_0004612
http://purl.obolibrary.org/obo/GARD_0004612 EquivalentTo 'Pyle disease'
http://purl.obolibrary.org/obo/GARD_0004620
http://purl.obolibrary.org/obo/GARD_0004620 EquivalentTo 'pyruvate dehydrogenase E1-alpha deficiency'
http://purl.obolibrary.org/obo/GARD_0004627
http://purl.obolibrary.org/obo/GARD_0004627 EquivalentTo 'radial ray hypoplasia-choanal atresia syndrome'
http://purl.obolibrary.org/obo/GARD_0004626
http://purl.obolibrary.org/obo/GARD_0004626 EquivalentTo 'radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome'
http://purl.obolibrary.org/obo/GARD_0004628
http://purl.obolibrary.org/obo/GARD_0004628 EquivalentTo 'oculofaciocardiodental syndrome'
http://purl.obolibrary.org/obo/GARD_0004624
http://purl.obolibrary.org/obo/GARD_0004624 EquivalentTo 'radial defect robin sequence'
http://purl.obolibrary.org/obo/GARD_0004630
http://purl.obolibrary.org/obo/GARD_0004630 EquivalentTo 'congenital radioulnar synostosis'
http://purl.obolibrary.org/obo/GO_0071625
http://purl.obolibrary.org/obo/GARD_0004684
http://purl.obolibrary.org/obo/GARD_0004684 EquivalentTo 'retinitis pigmentosa-deafness syndrome'
http://purl.obolibrary.org/obo/GARD_0004683
http://purl.obolibrary.org/obo/GARD_0004683 EquivalentTo 'retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome'
http://purl.obolibrary.org/obo/GARD_0004688
http://purl.obolibrary.org/obo/GARD_0004688 EquivalentTo 'retinopathy, pigmentary, and mental retardation'
http://purl.obolibrary.org/obo/GARD_0004694
http://purl.obolibrary.org/obo/GARD_0004694 EquivalentTo 'atypical Rett syndrome'
http://purl.obolibrary.org/obo/GARD_0004690
http://purl.obolibrary.org/obo/GARD_0004690 EquivalentTo 'X-linked retinoschisis'
http://purl.obolibrary.org/obo/GARD_0004638
http://purl.obolibrary.org/obo/GARD_0004638 EquivalentTo 'external auditory canal atresia-vertical talus-hypertelorism syndrome'
http://purl.obolibrary.org/obo/GARD_0004634
http://purl.obolibrary.org/obo/GARD_0004634 EquivalentTo 'leukocyte adhesion deficiency type II'
http://purl.obolibrary.org/obo/GARD_0004633
http://purl.obolibrary.org/obo/GARD_0004633 EquivalentTo 'absent radius-anogenital anomalies syndrome'
http://purl.obolibrary.org/obo/GARD_0004636
http://purl.obolibrary.org/obo/GARD_0004636 EquivalentTo 'Ramos-Arroyo syndrome'
http://purl.obolibrary.org/obo/GARD_0004635
http://purl.obolibrary.org/obo/GARD_0004635 EquivalentTo 'retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome'
http://purl.obolibrary.org/obo/GARD_0004641
http://purl.obolibrary.org/obo/GARD_0004641 EquivalentTo 'ichthyosis-intellectual disability-dwarfism-renal impairment syndrome'
http://purl.obolibrary.org/obo/NCIT_C96182
'immunotactoid glomerulopathy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C96182
http://purl.obolibrary.org/obo/GARD_0004648
http://purl.obolibrary.org/obo/GARD_0004648 EquivalentTo 'infantile Refsum disease'
http://purl.obolibrary.org/obo/GARD_0004644
http://purl.obolibrary.org/obo/GARD_0004644 EquivalentTo 'ataxia-deafness-intellectual disability syndrome'
http://purl.obolibrary.org/obo/GARD_0004647
http://purl.obolibrary.org/obo/GARD_0004647 EquivalentTo 'complex regional pain syndrome'
http://purl.obolibrary.org/obo/GARD_0004658
http://purl.obolibrary.org/obo/GARD_0004658 EquivalentTo 'renal dysplasia, cystic, susceptibility to'
http://purl.obolibrary.org/obo/GARD_0004667
http://purl.obolibrary.org/obo/GARD_0004667 EquivalentTo 'distal renal tubular acidosis (disease)'
http://purl.obolibrary.org/obo/GARD_0004666
http://purl.obolibrary.org/obo/GARD_0004666 EquivalentTo 'renal tubular acidosis, distal, with progressive nerve deafness'
http://purl.obolibrary.org/obo/GARD_0004669
http://purl.obolibrary.org/obo/GARD_0004669 EquivalentTo 'renal tubular acidosis, distal, autosomal recessive'
http://purl.obolibrary.org/obo/GARD_0004668
http://purl.obolibrary.org/obo/GARD_0004668 EquivalentTo 'autosomal dominant distal renal tubular acidosis'
http://purl.obolibrary.org/obo/SCTID_432261003
'candidemia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_432261003
http://purl.obolibrary.org/obo/GARD_0004670
http://purl.obolibrary.org/obo/GARD_0004670 EquivalentTo 'renal tubular acidosis 3'
http://purl.obolibrary.org/obo/SCTID_47017007
'ring chromosome 1' EquivalentTo http://purl.obolibrary.org/obo/SCTID_47017007
http://purl.obolibrary.org/obo/MESH_D003236
http://purl.obolibrary.org/obo/MESH_D003236 EquivalentTo 'viral conjunctivitis'
http://purl.obolibrary.org/obo/SCTID_43916004
'mucopolysaccharidosis type 7' EquivalentTo http://purl.obolibrary.org/obo/SCTID_43916004
http://purl.obolibrary.org/obo/SCTID_253187005
'Chiari malformation type 4' EquivalentTo http://purl.obolibrary.org/obo/SCTID_253187005
http://purl.obolibrary.org/obo/NCIT_C37866
'chromosome 16 trisomy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C37866
http://purl.obolibrary.org/obo/NCIT_C37865
'mosaic trisomy 17' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C37865
http://purl.obolibrary.org/obo/NCIT_C4391
'intravascular papillary endothelial hyperplasia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C4391
http://purl.obolibrary.org/obo/NCIT_C4387
'ectopic ACTH secretion syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C4387
http://purl.obolibrary.org/obo/GARD_0004508
http://purl.obolibrary.org/obo/GARD_0004508 EquivalentTo 'prolactin-producing pituitary gland adenoma'
http://purl.obolibrary.org/obo/GARD_0004507
http://purl.obolibrary.org/obo/GARD_0004507 EquivalentTo 'progressive supranuclear palsy-parkinsonism syndrome'
http://purl.obolibrary.org/obo/GARD_0004504
http://purl.obolibrary.org/obo/GARD_0004504 EquivalentTo 'X-linked mixed deafness with perilymphatic gusher'
http://purl.obolibrary.org/obo/NCIT_C37930
'constipation disorder' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C37930
http://purl.obolibrary.org/obo/GARD_0004568
http://purl.obolibrary.org/obo/GARD_0004568 EquivalentTo 'pterygium colli-intellectual disability-digital anomalies syndrome'
http://purl.obolibrary.org/obo/GARD_0004569
http://purl.obolibrary.org/obo/GARD_0004569 EquivalentTo 'familial pterygium of the conjunctiva'
http://purl.obolibrary.org/obo/GARD_0004577
http://purl.obolibrary.org/obo/GARD_0004577 EquivalentTo 'ptosis-strabismus-ectopic pupils syndrome'
http://purl.obolibrary.org/obo/GARD_0004570
http://purl.obolibrary.org/obo/GARD_0004570 EquivalentTo 'antecubital pterygium syndrome'
http://purl.obolibrary.org/obo/GARD_0004585
http://purl.obolibrary.org/obo/GARD_0004585 EquivalentTo 'pulmonary artery agenesis'
http://purl.obolibrary.org/obo/GARD_0004582
http://purl.obolibrary.org/obo/GARD_0004582 EquivalentTo 'hereditary pulmonary alveolar proteinosis'
http://purl.obolibrary.org/obo/GARD_0004584
http://purl.obolibrary.org/obo/GARD_0004584 EquivalentTo 'pulmonary arteriovenous malformation (disease)'
http://purl.obolibrary.org/obo/GARD_0004597
http://purl.obolibrary.org/obo/GARD_0004597 EquivalentTo 'pulmonary valve agenesis'
http://purl.obolibrary.org/obo/GARD_0004596
http://purl.obolibrary.org/obo/GARD_0004596 EquivalentTo 'congenital pulmonary valve stenosis'
http://purl.obolibrary.org/obo/GARD_0004599
http://purl.obolibrary.org/obo/GARD_0004599 EquivalentTo 'congenital pulmonary venous return anomaly'
http://purl.obolibrary.org/obo/GARD_0004598
http://purl.obolibrary.org/obo/GARD_0004598 EquivalentTo 'congenital pulmonary veins atresia or stenosis'
http://purl.obolibrary.org/obo/GARD_0004593
http://purl.obolibrary.org/obo/GARD_0004593 EquivalentTo 'congenital pulmonary sequestration'
http://purl.obolibrary.org/obo/GARD_0004595
http://purl.obolibrary.org/obo/GARD_0004595 EquivalentTo 'neonatal acute respiratory distress due to SP-B deficiency'
http://purl.obolibrary.org/obo/SCTID_205647005
'mosaic trisomy 6' EquivalentTo http://purl.obolibrary.org/obo/SCTID_205647005
http://purl.obolibrary.org/obo/GARD_0004513
http://purl.obolibrary.org/obo/GARD_0004513 EquivalentTo 'properdin deficiency'
http://purl.obolibrary.org/obo/GARD_0004528
http://purl.obolibrary.org/obo/GARD_0004528 EquivalentTo 'corpus callosum agenesis-abnormal genitalia syndrome'
http://purl.obolibrary.org/obo/GARD_0004527
http://purl.obolibrary.org/obo/GARD_0004527 EquivalentTo 'protoporphyria, erythropoietic'
http://purl.obolibrary.org/obo/MESH_D003193
http://purl.obolibrary.org/obo/MESH_D003193 EquivalentTo 'obsessive-compulsive personality disorder'
http://purl.obolibrary.org/obo/SCTID_450886002
'posterior leukoencephalopathy syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_450886002
http://purl.obolibrary.org/obo/GARD_0004525
http://purl.obolibrary.org/obo/GARD_0004525 EquivalentTo 'Proteus-like syndrome'
http://purl.obolibrary.org/obo/GARD_0004532
http://purl.obolibrary.org/obo/GARD_0004532 EquivalentTo 'proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome'
http://purl.obolibrary.org/obo/GARD_0004542
http://purl.obolibrary.org/obo/GARD_0004542 EquivalentTo 'pseudoachondroplastic dysplasia 2'
http://purl.obolibrary.org/obo/GARD_0004543
http://purl.obolibrary.org/obo/GARD_0004543 EquivalentTo 'peroxisomal acyl-CoA oxidase deficiency'
http://purl.obolibrary.org/obo/GARD_0004545
http://purl.obolibrary.org/obo/GARD_0004545 EquivalentTo 'metachromatic leukodystrophy, juvenile form'
http://purl.obolibrary.org/obo/GARD_0004553
http://purl.obolibrary.org/obo/GARD_0004553 EquivalentTo 'pseudohypoaldosteronism type 2'
http://purl.obolibrary.org/obo/GARD_0004550
http://purl.obolibrary.org/obo/GARD_0004550 EquivalentTo 'disorder of sex development-intellectual disability syndrome'
http://purl.obolibrary.org/obo/SCTID_413656006
'blast phase chronic myelogenous leukemia, BCR-ABL1 positive' EquivalentTo http://purl.obolibrary.org/obo/SCTID_413656006
http://purl.obolibrary.org/obo/GARD_0004488
http://purl.obolibrary.org/obo/GARD_0004488 EquivalentTo 'intellectual disability-cataracts-calcified pinnae-myopathy syndrome'
http://purl.obolibrary.org/obo/GARD_0004482
http://purl.obolibrary.org/obo/GARD_0004482 EquivalentTo 'Prieto syndrome'
http://purl.obolibrary.org/obo/GARD_0004484
http://purl.obolibrary.org/obo/GARD_0004484 EquivalentTo 'primary ciliary dyskinesia'
http://purl.obolibrary.org/obo/GARD_0004480
http://purl.obolibrary.org/obo/GARD_0004480 EquivalentTo 'premature ovarian failure 1'
http://purl.obolibrary.org/obo/GARD_0004498
http://purl.obolibrary.org/obo/GARD_0004498 EquivalentTo 'acroosteolysis-keloid-like lesions-premature aging syndrome'
http://purl.obolibrary.org/obo/MESH_D003111
http://purl.obolibrary.org/obo/MESH_D003111 EquivalentTo 'polyp of colon'
http://purl.obolibrary.org/obo/GARD_0004494
http://purl.obolibrary.org/obo/GARD_0004494 EquivalentTo 'progeria-short stature-pigmented nevi syndrome'
http://purl.obolibrary.org/obo/NCIT_C118312
'neonatal aspiration syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C118312
http://purl.obolibrary.org/obo/SCTID_237980004
'D-glyceric aciduria' EquivalentTo http://purl.obolibrary.org/obo/SCTID_237980004
http://purl.obolibrary.org/obo/NCIT_C37977
'hypophosphatemia (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C37977
http://purl.obolibrary.org/obo/SCTID_7792000
'low implantation of placenta' EquivalentTo http://purl.obolibrary.org/obo/SCTID_7792000
http://purl.obolibrary.org/obo/NCIT_C86917
'steatorrhea (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C86917
http://purl.obolibrary.org/obo/SCTID_90623003
'aluminosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_90623003
http://purl.obolibrary.org/obo/GARD_0000001
http://purl.obolibrary.org/obo/GARD_0000001 EquivalentTo 'gracile syndrome'
http://purl.obolibrary.org/obo/GARD_0000005
http://purl.obolibrary.org/obo/GARD_0000005 EquivalentTo 'abetalipoproteinemia'
http://purl.obolibrary.org/obo/GARD_0000004
http://purl.obolibrary.org/obo/GARD_0000004 EquivalentTo 'dipetalonemiasis'
http://purl.obolibrary.org/obo/GARD_0000003
http://purl.obolibrary.org/obo/GARD_0000003 EquivalentTo 'ablepharon macrostomia syndrome'
http://purl.obolibrary.org/obo/GARD_0000006
http://purl.obolibrary.org/obo/GARD_0000006 EquivalentTo 'acromesomelic dysplasia'
http://purl.obolibrary.org/obo/GARD_0000012
http://purl.obolibrary.org/obo/GARD_0000012 EquivalentTo 'hypersensitivity pneumonitis'
http://purl.obolibrary.org/obo/GARD_0000011
http://purl.obolibrary.org/obo/GARD_0000011 EquivalentTo 'alternating hemiplegia of childhood'
http://purl.obolibrary.org/obo/GARD_0000016
http://purl.obolibrary.org/obo/GARD_0000016 EquivalentTo 'ocular motor apraxia, Cogan type'
http://purl.obolibrary.org/obo/GARD_0000013
http://purl.obolibrary.org/obo/GARD_0000013 EquivalentTo 'aniridia-cerebellar ataxia-intellectual disability syndrome'
http://purl.obolibrary.org/obo/GARD_0000017
http://purl.obolibrary.org/obo/GARD_0000017 EquivalentTo 'arachnoid cyst'
http://purl.obolibrary.org/obo/GARD_0000023
http://purl.obolibrary.org/obo/GARD_0000023 EquivalentTo 'blepharophimosis, ptosis, and epicanthus inversus syndrome'
http://purl.obolibrary.org/obo/GARD_0000029
http://purl.obolibrary.org/obo/GARD_0000029 EquivalentTo 'CHARGE syndrome'
http://purl.obolibrary.org/obo/GARD_0000030
http://purl.obolibrary.org/obo/GARD_0000030 EquivalentTo 'cholecystitis'
http://purl.obolibrary.org/obo/SCTID_719172003
'spondyloepimetaphyseal dysplasia, Pakistani type' EquivalentTo http://purl.obolibrary.org/obo/SCTID_719172003
http://purl.obolibrary.org/obo/GARD_0000079
http://purl.obolibrary.org/obo/GARD_0000079 EquivalentTo 'metaphyseal chondrodysplasia, Jansen type'
http://purl.obolibrary.org/obo/GARD_0000085
http://purl.obolibrary.org/obo/GARD_0000085 EquivalentTo 'thanatophoric dysplasia'
http://purl.obolibrary.org/obo/GARD_0000084
http://purl.obolibrary.org/obo/GARD_0000084 EquivalentTo 'congenital generalized lipodystrophy type 1'
http://purl.obolibrary.org/obo/GARD_0000089
http://purl.obolibrary.org/obo/GARD_0000089 EquivalentTo 'gastric non-hodgkin lymphoma'
http://purl.obolibrary.org/obo/GARD_0000087
http://purl.obolibrary.org/obo/GARD_0000087 EquivalentTo 'microphthalmia, Lenz type'
http://purl.obolibrary.org/obo/GARD_0000086
http://purl.obolibrary.org/obo/GARD_0000086 EquivalentTo 'Chudley-McCullough syndrome'
http://purl.obolibrary.org/obo/GARD_0000081
http://purl.obolibrary.org/obo/GARD_0000081 EquivalentTo 'X-linked intellectual disability-hypotonic face syndrome'
http://purl.obolibrary.org/obo/GARD_0000080
http://purl.obolibrary.org/obo/GARD_0000080 EquivalentTo 'Johanson-Blizzard syndrome'
http://purl.obolibrary.org/obo/GARD_0000094
http://purl.obolibrary.org/obo/GARD_0000094 EquivalentTo 'mucolipidosis type IV'
http://purl.obolibrary.org/obo/GARD_0000098
http://purl.obolibrary.org/obo/GARD_0000098 EquivalentTo 'congenital myasthenic syndrome'
http://purl.obolibrary.org/obo/GARD_0000092
http://purl.obolibrary.org/obo/GARD_0000092 EquivalentTo 'mal de Meleda'
http://purl.obolibrary.org/obo/GARD_0000091
http://purl.obolibrary.org/obo/GARD_0000091 EquivalentTo 'childhood malignant melanoma'
http://purl.obolibrary.org/obo/GARD_0000037
http://purl.obolibrary.org/obo/GARD_0000037 EquivalentTo '3p- syndrome'
http://purl.obolibrary.org/obo/GARD_0000035
http://purl.obolibrary.org/obo/GARD_0000035 EquivalentTo 'tetrasomy 18p'
http://purl.obolibrary.org/obo/GARD_0000049
http://purl.obolibrary.org/obo/GARD_0000049 EquivalentTo 'de Barsy syndrome'
http://purl.obolibrary.org/obo/GARD_0000048
http://purl.obolibrary.org/obo/GARD_0000048 EquivalentTo 'cytochrome-c oxidase deficiency disease'
http://purl.obolibrary.org/obo/GARD_0000054
http://purl.obolibrary.org/obo/GARD_0000054 EquivalentTo 'duodenal atresia (disease)'
http://purl.obolibrary.org/obo/SCTID_410056006
'tyrosinemia type I' EquivalentTo http://purl.obolibrary.org/obo/SCTID_410056006
http://purl.obolibrary.org/obo/GARD_0000059
http://purl.obolibrary.org/obo/GARD_0000059 EquivalentTo 'spinocerebellar ataxia type 34'
http://purl.obolibrary.org/obo/GARD_0000062
http://purl.obolibrary.org/obo/GARD_0000062 EquivalentTo 'Filippi syndrome'
http://purl.obolibrary.org/obo/GARD_0000067
http://purl.obolibrary.org/obo/GARD_0000067 EquivalentTo 'familial juvenile hyperuricemic nephropathy'
http://purl.obolibrary.org/obo/GARD_0000065
http://purl.obolibrary.org/obo/GARD_0000065 EquivalentTo 'Galloway-Mowat syndrome'
http://purl.obolibrary.org/obo/GARD_0000069
http://purl.obolibrary.org/obo/GARD_0000069 EquivalentTo 'hantavirus pulmonary syndrome'
http://purl.obolibrary.org/obo/GARD_0000068
http://purl.obolibrary.org/obo/GARD_0000068 EquivalentTo 'hypoglossia-hypodactyly syndrome'
http://purl.obolibrary.org/obo/GARD_0000071
http://purl.obolibrary.org/obo/GARD_0000071 EquivalentTo 'human granulocytic ehrlichiosis'
http://purl.obolibrary.org/obo/GARD_0000076
http://purl.obolibrary.org/obo/GARD_0000076 EquivalentTo 'hypohidrotic ectodermal dysplasia'
http://purl.obolibrary.org/obo/GARD_0000070
http://purl.obolibrary.org/obo/GARD_0000070 EquivalentTo 'Kasabach-Merritt syndrome'
http://purl.obolibrary.org/obo/MESH_D007842
http://purl.obolibrary.org/obo/MESH_D007842 EquivalentTo 'lathyrism'
http://purl.obolibrary.org/obo/SCTID_200983001
'pityriasis lichenoides' EquivalentTo http://purl.obolibrary.org/obo/SCTID_200983001
http://purl.obolibrary.org/obo/SCTID_267653001
'chronic inflammation of lacrimal passage' EquivalentTo http://purl.obolibrary.org/obo/SCTID_267653001
http://purl.obolibrary.org/obo/SCTID_41049003
'holoacardius amorphus' EquivalentTo http://purl.obolibrary.org/obo/SCTID_41049003
http://purl.obolibrary.org/obo/SCTID_716098006
'congenital bowing of long bones' EquivalentTo http://purl.obolibrary.org/obo/SCTID_716098006
http://purl.obolibrary.org/obo/SCTID_30250000
'beach ear' EquivalentTo http://purl.obolibrary.org/obo/SCTID_30250000
http://purl.obolibrary.org/obo/MESH_C566052
http://purl.obolibrary.org/obo/MESH_C566052 EquivalentTo 'dilated cardiomyopathy 1T'
http://purl.obolibrary.org/obo/MESH_C566057
http://purl.obolibrary.org/obo/MESH_C566057 EquivalentTo 'thrombomodulin-related bleeding disorder'
http://purl.obolibrary.org/obo/MESH_C566069
http://purl.obolibrary.org/obo/MESH_C566069 EquivalentTo 'distal arthrogryposis type 10'
http://purl.obolibrary.org/obo/MESH_C566068
http://purl.obolibrary.org/obo/MESH_C566068 EquivalentTo 'extensor tendons of finger anomalies'
http://purl.obolibrary.org/obo/SCTID_721809007
'Blastocystis infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_721809007
http://purl.obolibrary.org/obo/NCIT_C4818
'calcified aponeurotic fibroma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C4818
http://purl.obolibrary.org/obo/NCIT_C4811
'inherited torticollis (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C4811
http://purl.obolibrary.org/obo/MESH_D017189
http://purl.obolibrary.org/obo/MESH_D017189 EquivalentTo 'Enoplea infectious disease'
http://purl.obolibrary.org/obo/NCIT_C4847
'colon dysplasia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C4847
http://purl.obolibrary.org/obo/NCIT_C128425
'anaplasmosis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C128425
http://purl.obolibrary.org/obo/MESH_D056728
http://purl.obolibrary.org/obo/MESH_D056728 EquivalentTo 'von Willebrand disease 2'
http://purl.obolibrary.org/obo/SCTID_204368006
'subvalvular aortic stenosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_204368006
http://purl.obolibrary.org/obo/NCIT_C128380
'bacterial myocarditis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C128380
http://purl.obolibrary.org/obo/MESH_D007725
http://purl.obolibrary.org/obo/MESH_D007725 EquivalentTo 'Krukenberg carcinoma'
http://purl.obolibrary.org/obo/SCTID_15890002
'albinism' EquivalentTo http://purl.obolibrary.org/obo/SCTID_15890002
http://purl.obolibrary.org/obo/NCIT_C4907
'hypertensive heart disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C4907
http://purl.obolibrary.org/obo/NCIT_C128371
'late latent syphilis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C128371
http://purl.obolibrary.org/obo/NCIT_C37312
'partial deletion of the long arm of chromosome 11' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C37312
http://purl.obolibrary.org/obo/NCBITaxon_652611
http://purl.obolibrary.org/obo/SCTID_49526009
'presbycusis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_49526009
http://purl.obolibrary.org/obo/UBERON_0000042
http://purl.obolibrary.org/obo/ECTO_0001566
http://purl.obolibrary.org/obo/MESH_C571912
http://purl.obolibrary.org/obo/MESH_C571912 EquivalentTo 'inhalational anthrax'
http://purl.obolibrary.org/obo/NCIT_C118763
'exophthalmos (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C118763
http://purl.obolibrary.org/obo/NCIT_C4707
'papular elastorrhexis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C4707
http://purl.obolibrary.org/obo/SCTID_88264003
'Trichinella spiralis infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_88264003
http://purl.obolibrary.org/obo/NCIT_C4749
'basaloid follicular hamartoma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C4749
http://purl.obolibrary.org/obo/MESH_D017496
http://purl.obolibrary.org/obo/MESH_D017496 EquivalentTo 'hypopigmentation of the skin (disease)'
http://purl.obolibrary.org/obo/MESH_D017445
http://purl.obolibrary.org/obo/MESH_D017445 EquivalentTo 'skin vascular disease'
http://purl.obolibrary.org/obo/NCIT_C128064
'endometriosis of rectovaginal septum and vagina' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C128064
http://purl.obolibrary.org/obo/SCTID_84438001
'pure autonomic failure' EquivalentTo http://purl.obolibrary.org/obo/SCTID_84438001
http://purl.obolibrary.org/obo/SCTID_105999006
'non-congenital cyst of kidney' EquivalentTo http://purl.obolibrary.org/obo/SCTID_105999006
http://purl.obolibrary.org/obo/GARD_0004956
http://purl.obolibrary.org/obo/GARD_0004956 EquivalentTo 'spinocerebellar ataxia type 8'
http://purl.obolibrary.org/obo/GARD_0004958
http://purl.obolibrary.org/obo/GARD_0004958 EquivalentTo 'spinocerebellar ataxia-dysmorphism syndrome'
http://purl.obolibrary.org/obo/GARD_0004953
http://purl.obolibrary.org/obo/GARD_0004953 EquivalentTo 'spinocerebellar ataxia type 5'
http://purl.obolibrary.org/obo/GARD_0004952
http://purl.obolibrary.org/obo/GARD_0004952 EquivalentTo 'autosomal recessive cerebellar ataxia-saccadic intrusion syndrome'
http://purl.obolibrary.org/obo/GARD_0004955
http://purl.obolibrary.org/obo/GARD_0004955 EquivalentTo 'spinocerebellar ataxia type 7'
http://purl.obolibrary.org/obo/GARD_0004954
http://purl.obolibrary.org/obo/GARD_0004954 EquivalentTo 'infantile-onset autosomal recessive nonprogressive cerebellar ataxia'
http://purl.obolibrary.org/obo/GARD_0004968
http://purl.obolibrary.org/obo/GARD_0004968 EquivalentTo 'split hand-foot malformation 2'
http://purl.obolibrary.org/obo/GARD_0004967
http://purl.obolibrary.org/obo/GARD_0004967 EquivalentTo 'Karsch-Neugebauer syndrome'
http://purl.obolibrary.org/obo/GARD_0004969
http://purl.obolibrary.org/obo/GARD_0004969 EquivalentTo 'Czeizel-Losonci syndrome'
http://purl.obolibrary.org/obo/GARD_0004963
http://purl.obolibrary.org/obo/GARD_0004963 EquivalentTo 'splenogonadal fusion-limb defects-micrognathia syndrome'
http://purl.obolibrary.org/obo/GARD_0004971
http://purl.obolibrary.org/obo/GARD_0004971 EquivalentTo 'spondyloarthropathy'
http://purl.obolibrary.org/obo/GARD_0004973
http://purl.obolibrary.org/obo/GARD_0004973 EquivalentTo 'spondylocostal dysostosis 3, autosomal recessive'
http://purl.obolibrary.org/obo/GARD_0004972
http://purl.obolibrary.org/obo/GARD_0004972 EquivalentTo 'Spondylocamptodactyly syndrome'
http://purl.obolibrary.org/obo/NCIT_C4657
'central nervous system cyst (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C4657
http://purl.obolibrary.org/obo/GARD_0004976
http://purl.obolibrary.org/obo/GARD_0004976 EquivalentTo 'spondylocostal dysostosis 4, autosomal recessive'
http://purl.obolibrary.org/obo/GARD_0004982
http://purl.obolibrary.org/obo/GARD_0004982 EquivalentTo 'spondyloepimetaphyseal dysplasia with joint laxity'
http://purl.obolibrary.org/obo/GARD_0004984
http://purl.obolibrary.org/obo/GARD_0004984 EquivalentTo 'Schimke immuno-osseous dysplasia'
http://purl.obolibrary.org/obo/GARD_0004994
http://purl.obolibrary.org/obo/GARD_0004994 EquivalentTo 'spondyloperipheral dysplasia-short ulna syndrome'
http://purl.obolibrary.org/obo/NCIT_C4678
'linear nevus sebaceus syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C4678
http://purl.obolibrary.org/obo/GARD_0004919
http://purl.obolibrary.org/obo/GARD_0004919 EquivalentTo 'hereditary spastic paraplegia 11'
http://purl.obolibrary.org/obo/GARD_0004918
http://purl.obolibrary.org/obo/GARD_0004918 EquivalentTo 'spastic paraplegia-precocious puberty syndrome'
http://purl.obolibrary.org/obo/GARD_0004915
http://purl.obolibrary.org/obo/GARD_0004915 EquivalentTo 'spastic paraplegia-epilepsy-intellectual disability syndrome'
http://purl.obolibrary.org/obo/GARD_0004911
http://purl.obolibrary.org/obo/GARD_0004911 EquivalentTo 'spastic diplegia and mental retardation'
http://purl.obolibrary.org/obo/GARD_0004910
http://purl.obolibrary.org/obo/GARD_0004910 EquivalentTo 'Charlevoix-Saguenay spastic ataxia'
http://purl.obolibrary.org/obo/GARD_0004928
http://purl.obolibrary.org/obo/GARD_0004928 EquivalentTo 'hereditary spastic paraplegia 6'
http://purl.obolibrary.org/obo/GARD_0004927
http://purl.obolibrary.org/obo/GARD_0004927 EquivalentTo 'hereditary spastic paraplegia 7'
http://purl.obolibrary.org/obo/GARD_0004924
http://purl.obolibrary.org/obo/GARD_0004924 EquivalentTo 'hereditary spastic paraplegia 39'
http://purl.obolibrary.org/obo/GARD_0004923
http://purl.obolibrary.org/obo/GARD_0004923 EquivalentTo 'hereditary spastic paraplegia 2'
http://purl.obolibrary.org/obo/GARD_0004926
http://purl.obolibrary.org/obo/GARD_0004926 EquivalentTo 'hereditary spastic paraplegia 5A'
http://purl.obolibrary.org/obo/GARD_0004925
http://purl.obolibrary.org/obo/GARD_0004925 EquivalentTo 'hereditary spastic paraplegia 4'
http://purl.obolibrary.org/obo/GARD_0004922
http://purl.obolibrary.org/obo/GARD_0004922 EquivalentTo 'hereditary spastic paraplegia 18'
http://purl.obolibrary.org/obo/GARD_0004921
http://purl.obolibrary.org/obo/GARD_0004921 EquivalentTo 'spastic paraplegia-neuropathy-poikiloderma syndrome'
http://purl.obolibrary.org/obo/GARD_0004936
http://purl.obolibrary.org/obo/GARD_0004936 EquivalentTo 'Weill-Marchesani syndrome'
http://purl.obolibrary.org/obo/GARD_0004931
http://purl.obolibrary.org/obo/GARD_0004931 EquivalentTo 'spastic paraplegia-glaucoma-intellectual disability syndrome'
http://purl.obolibrary.org/obo/GARD_0004932
http://purl.obolibrary.org/obo/GARD_0004932 EquivalentTo 'spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome'
http://purl.obolibrary.org/obo/GARD_0004945
http://purl.obolibrary.org/obo/GARD_0004945 EquivalentTo 'intermediate spinal muscular atrophy'
http://purl.obolibrary.org/obo/GARD_0004947
http://purl.obolibrary.org/obo/GARD_0004947 EquivalentTo 'spinal muscular atrophy, type I, with congenital bone fractures'
http://purl.obolibrary.org/obo/GARD_0004950
http://purl.obolibrary.org/obo/GARD_0004950 EquivalentTo 'spinocerebellar ataxia type 30'
http://purl.obolibrary.org/obo/HP_0002352
http://purl.obolibrary.org/obo/GARD_0004997
http://purl.obolibrary.org/obo/GARD_0004997 EquivalentTo 'familial spontaneous pneumothorax'
http://purl.obolibrary.org/obo/MESH_D007971
http://purl.obolibrary.org/obo/MESH_D007971 EquivalentTo 'leukoplakia'
http://purl.obolibrary.org/obo/MESH_D007972
http://purl.obolibrary.org/obo/MESH_D007972 EquivalentTo 'oral mucosa leukoplakia'
http://purl.obolibrary.org/obo/HP_0100640
http://purl.obolibrary.org/obo/NCIT_C62569
'epidermolytic hyperkeratosis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C62569
http://purl.obolibrary.org/obo/MESH_D007925
http://purl.obolibrary.org/obo/MESH_D007925 EquivalentTo 'Leriche syndrome'
http://purl.obolibrary.org/obo/MESH_D007946
http://purl.obolibrary.org/obo/MESH_D007946 EquivalentTo 'mast cell leukemia'
http://purl.obolibrary.org/obo/MESH_D007943
http://purl.obolibrary.org/obo/MESH_D007943 EquivalentTo 'hairy cell leukemia'
http://purl.obolibrary.org/obo/GARD_0004905
http://purl.obolibrary.org/obo/GARD_0004905 EquivalentTo 'congenital heart defect-round face-developmental delay syndrome'
http://purl.obolibrary.org/obo/GARD_0000475
http://purl.obolibrary.org/obo/GARD_0000475 EquivalentTo 'acquired prothrombin deficiency'
http://purl.obolibrary.org/obo/GARD_0000480
http://purl.obolibrary.org/obo/GARD_0000480 EquivalentTo 'acro-renal-mandibular syndrome'
http://purl.obolibrary.org/obo/MESH_C566394
http://purl.obolibrary.org/obo/MESH_C566394 EquivalentTo 'cerebral cavernous malformation 2'
http://purl.obolibrary.org/obo/GARD_0000484
http://purl.obolibrary.org/obo/GARD_0000484 EquivalentTo 'acrofrontofacionasal dysostosis'
http://purl.obolibrary.org/obo/MESH_C566397
http://purl.obolibrary.org/obo/MESH_C566397 EquivalentTo 'MYP3'
http://purl.obolibrary.org/obo/GARD_0000486
http://purl.obolibrary.org/obo/GARD_0000486 EquivalentTo 'acrocephalosyndactyly'
http://purl.obolibrary.org/obo/GARD_0000491
http://purl.obolibrary.org/obo/GARD_0000491 EquivalentTo 'Prata-Liberal-Goncalves syndrome'
http://purl.obolibrary.org/obo/GARD_0000494
http://purl.obolibrary.org/obo/GARD_0000494 EquivalentTo 'acrofacial dysostosis, Catania type'
http://www.orpha.net/ORDO/Orphanet_471383
'genetic lethal multiple congenital anomalies/dysmorphic syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_471383
http://purl.obolibrary.org/obo/GARD_0000499
http://purl.obolibrary.org/obo/GARD_0000499 EquivalentTo 'acrofacial dysostosis, Palagonia type'
http://purl.obolibrary.org/obo/GARD_0000497
http://purl.obolibrary.org/obo/GARD_0000497 EquivalentTo 'acrofacial dysostosis, Weyers type'
http://purl.obolibrary.org/obo/GARD_0000434
http://purl.obolibrary.org/obo/GARD_0000434 EquivalentTo 'hydrocephalus with stenosis of the aqueduct of Sylvius'
http://purl.obolibrary.org/obo/GARD_0000431
http://purl.obolibrary.org/obo/GARD_0000431 EquivalentTo 'microtia'
http://purl.obolibrary.org/obo/GARD_0000438
http://purl.obolibrary.org/obo/GARD_0000438 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2D'
http://purl.obolibrary.org/obo/GARD_0000435
http://purl.obolibrary.org/obo/GARD_0000435 EquivalentTo 'cleft lip-retinopathy syndrome'
http://purl.obolibrary.org/obo/MONDO_0043707
mediastinal diseases
'mediastinal diseases' EquivalentTo http://purl.obolibrary.org/obo/SCTID_49483002
'mediastinal diseases' EquivalentTo 'disease or disorder' and ('disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0003728)
'mediastinal diseases' SubClassOf 'disease affecting anatomical system'
'mediastinal diseases' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C26826
'mediastinal diseases' SubClassOf 'thoracic disease'
http://purl.obolibrary.org/obo/MESH_D008477 EquivalentTo 'mediastinal diseases'
'mediastinal diseases' SubClassOf 'disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0003728
http://purl.obolibrary.org/obo/GARD_0000453
http://purl.obolibrary.org/obo/GARD_0000453 EquivalentTo 'acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome'
http://purl.obolibrary.org/obo/GARD_0000459
http://purl.obolibrary.org/obo/GARD_0000459 EquivalentTo 'achondrogenesis type IA'
http://purl.obolibrary.org/obo/GARD_0000463
http://purl.obolibrary.org/obo/GARD_0000463 EquivalentTo 'short-limb skeletal dysplasia with severe combined immunodeficiency'
http://purl.obolibrary.org/obo/GARD_0000460
http://purl.obolibrary.org/obo/GARD_0000460 EquivalentTo 'achondrogenesis type IB'
http://purl.obolibrary.org/obo/SCTID_715338007
'mitochondrial DNA depletion syndrome 9' EquivalentTo http://purl.obolibrary.org/obo/SCTID_715338007
http://purl.obolibrary.org/obo/MESH_C566319
http://purl.obolibrary.org/obo/MESH_C566319 EquivalentTo 'acropectorovertebral dysplasia'
http://purl.obolibrary.org/obo/MONDO_0043731
lytic metastatic bone lesion
'lytic metastatic bone lesion' SubClassOf 'degenerative disorder'
'lytic metastatic bone lesion' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35371
'lytic metastatic bone lesion' SubClassOf 'bone resorption disease'
http://purl.obolibrary.org/obo/MESH_D010014 EquivalentTo 'lytic metastatic bone lesion'
'lytic metastatic bone lesion' EquivalentTo http://purl.obolibrary.org/obo/SCTID_203522001
'lytic metastatic bone lesion' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001821
http://purl.obolibrary.org/obo/MONDO_0043735
osteoradionecrosis
'osteoradionecrosis' SubClassOf 'osteonecrosis'
'osteoradionecrosis' SubClassOf 'radiation-induced disorder'
'osteoradionecrosis' EquivalentTo 'osteonecrosis' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/ECTO_0000002)
http://purl.obolibrary.org/obo/MESH_D010025 EquivalentTo 'osteoradionecrosis'
'osteoradionecrosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_109333005
'osteoradionecrosis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C63707
http://purl.obolibrary.org/obo/MONDO_0043726
multiple organ failure
http://purl.obolibrary.org/obo/MESH_D009102 EquivalentTo 'multiple organ failure'
'multiple organ failure' EquivalentTo http://purl.obolibrary.org/obo/SCTID_57653000
'multiple organ failure' SubClassOf 'disease or disorder'
http://purl.obolibrary.org/obo/MONDO_0043723
Monteggia's fracture
'Monteggia's fracture' SubClassOf 'ulna fracture'
http://purl.obolibrary.org/obo/MESH_D009011 EquivalentTo 'Monteggia's fracture'
'Monteggia's fracture' EquivalentTo http://purl.obolibrary.org/obo/SCTID_123973009
'Monteggia's fracture' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001373
http://purl.obolibrary.org/obo/SCTID_269469005
'malignant soft tissue neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_269469005
http://purl.obolibrary.org/obo/MONDO_0043775
respiratory paralysis
'respiratory paralysis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_64228003
'respiratory paralysis' SubClassOf 'palsy'
http://purl.obolibrary.org/obo/MESH_D012133 EquivalentTo 'respiratory paralysis'
'respiratory paralysis' SubClassOf 'diaphragm disease'
'respiratory paralysis' SubClassOf 'respiratory failure'
http://purl.obolibrary.org/obo/MONDO_0043771
radiodermatitis
'radiodermatitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001840
'radiodermatitis' SubClassOf 'dermatitis'
'radiodermatitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3349
'radiodermatitis' SubClassOf 'radiation-induced disorder'
'radiodermatitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_49084001
'radiodermatitis' EquivalentTo 'dermatitis' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/ECTO_0000002)
http://purl.obolibrary.org/obo/MESH_D011855 EquivalentTo 'radiodermatitis'
http://purl.obolibrary.org/obo/MESH_D007446
http://purl.obolibrary.org/obo/MESH_D007446 EquivalentTo 'chromosome inversion'
http://purl.obolibrary.org/obo/MONDO_0043777
rhinophyma
http://purl.obolibrary.org/obo/MESH_D012224 EquivalentTo 'rhinophyma'
'rhinophyma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_19877001
'rhinophyma' SubClassOf 'sebaceous gland disease'
'rhinophyma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34989
'rhinophyma' SubClassOf 'rosacea'
http://purl.obolibrary.org/obo/MONDO_0043783
sclerema neonatorum
'sclerema neonatorum' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35009
'sclerema neonatorum' EquivalentTo http://purl.obolibrary.org/obo/SCTID_206539008
'sclerema neonatorum' SubClassOf 'skin disease'
http://purl.obolibrary.org/obo/MESH_D012593 EquivalentTo 'sclerema neonatorum'
http://purl.obolibrary.org/obo/MONDO_0043786
serositis
'serositis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C70428
'serositis' SubClassOf 'disease affecting anatomical system'
'serositis' EquivalentTo 'disease or disorder' and ('disease HAS inflammation site' some http://purl.obolibrary.org/obo/UBERON_0000042)
http://purl.obolibrary.org/obo/MESH_D012700 EquivalentTo 'serositis'
'serositis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_370469003
'serositis' SubClassOf 'disease HAS inflammation site' some http://purl.obolibrary.org/obo/UBERON_0000042
'serositis' SubClassOf 'inflammatory disease'
http://purl.obolibrary.org/obo/MONDO_0043789
serum sickness
'serum sickness' SubClassOf 'type IV hypersensitivity disease'
'serum sickness' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001845
'serum sickness' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C79718
'serum sickness' EquivalentTo http://purl.obolibrary.org/obo/SCTID_72284000
'serum sickness' SubClassOf 'type III hypersensitivity disease'
http://purl.obolibrary.org/obo/MESH_D012713 EquivalentTo 'serum sickness'
http://purl.obolibrary.org/obo/MONDO_0043759
abdominal ectopic pregnancy
'abdominal ectopic pregnancy' SubClassOf 'ectopic pregnancy'
'abdominal ectopic pregnancy' EquivalentTo 'ectopic pregnancy' and ('disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0000916)
'abdominal ectopic pregnancy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_82661006
'abdominal ectopic pregnancy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C92921
'abdominal ectopic pregnancy' SubClassOf 'disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0000916
http://purl.obolibrary.org/obo/MESH_D011269 EquivalentTo 'abdominal ectopic pregnancy'
'abdominal ectopic pregnancy' SubClassOf 'disorder of anatomical region'
http://purl.obolibrary.org/obo/SCTID_418801006
'intraoperative floppy iris syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_418801006
http://purl.obolibrary.org/obo/MONDO_0043762
tubal pregnancy
'tubal pregnancy' SubClassOf 'fallopian tube disease'
'tubal pregnancy' SubClassOf 'ectopic pregnancy'
'tubal pregnancy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_79586000
'tubal pregnancy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C92946
http://purl.obolibrary.org/obo/MESH_D011274 EquivalentTo 'tubal pregnancy'
'tubal pregnancy' EquivalentTo 'ectopic pregnancy' and ('disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0003889)
http://purl.obolibrary.org/obo/MESH_C566300
http://purl.obolibrary.org/obo/MESH_C566300 EquivalentTo 'congenital deficiency in alpha-fetoprotein'
http://purl.obolibrary.org/obo/MESH_C566307
http://purl.obolibrary.org/obo/MESH_C566307 EquivalentTo 'alacrima, congenital, autosomal dominant'
http://purl.obolibrary.org/obo/MONDO_0043765
presbycusis
'presbycusis' SubClassOf 'hearing loss'
http://purl.obolibrary.org/obo/MESH_D011304 EquivalentTo 'presbycusis'
'presbycusis' SubClassOf 'degenerative disorder'
'presbycusis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C116367
'presbycusis' SubClassOf 'has modifier' some 'acquired'
'presbycusis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_49526009
http://purl.obolibrary.org/obo/MONDO_0043768
thrombocytopenic purpura
'thrombocytopenic purpura' SubClassOf 'rare immune disease'
'thrombocytopenic purpura' SubClassOf 'thrombocytopenia'
'thrombocytopenic purpura' EquivalentTo http://purl.obolibrary.org/obo/SCTID_302873008
'thrombocytopenic purpura' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C26870
'thrombocytopenic purpura' SubClassOf 'thrombotic microangiopathy'
'thrombocytopenic purpura' SubClassOf 'purpura (disease)'
http://purl.obolibrary.org/obo/MESH_D011696 EquivalentTo 'thrombocytopenic purpura'
http://purl.obolibrary.org/obo/SCTID_197718007
'Pasteurella multocida infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_197718007
http://purl.obolibrary.org/obo/MONDO_0043797
spinal cord injuries
http://purl.obolibrary.org/obo/MESH_D013119 EquivalentTo 'spinal cord injuries'
'spinal cord injuries' SubClassOf 'spinal injury'
'spinal cord injuries' EquivalentTo 'injury' and ('disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0002240)
'spinal cord injuries' SubClassOf 'spinal cord disease'
'spinal cord injuries' EquivalentTo http://purl.obolibrary.org/obo/SCTID_90584004
http://purl.obolibrary.org/obo/PR_000010730
http://purl.obolibrary.org/obo/SCTID_417093003
'West Nile fever' EquivalentTo http://purl.obolibrary.org/obo/SCTID_417093003
http://purl.obolibrary.org/obo/GARD_0000409
http://purl.obolibrary.org/obo/GARD_0000409 EquivalentTo 'pachygyria-intellectual disability-epilepsy syndrome'
http://purl.obolibrary.org/obo/GARD_0000408
http://purl.obolibrary.org/obo/GARD_0000408 EquivalentTo 'short stature due to growth hormone qualitative anomaly'
http://purl.obolibrary.org/obo/GARD_0000406
http://purl.obolibrary.org/obo/GARD_0000406 EquivalentTo 'foveal hypoplasia 1'
http://purl.obolibrary.org/obo/GARD_0000411
http://purl.obolibrary.org/obo/GARD_0000411 EquivalentTo 'hypoparathyroidism-retardation-dysmorphism syndrome'
http://purl.obolibrary.org/obo/GARD_0000414
http://purl.obolibrary.org/obo/GARD_0000414 EquivalentTo 'Bamforth-Lazarus syndrome'
http://purl.obolibrary.org/obo/GARD_0000429
http://purl.obolibrary.org/obo/GARD_0000429 EquivalentTo 'amniotic band syndrome'
http://purl.obolibrary.org/obo/GARD_0000422
http://purl.obolibrary.org/obo/GARD_0000422 EquivalentTo 'hearing loss-familial salivary gland insensitivity to aldosterone syndrome'
http://purl.obolibrary.org/obo/GARD_0000420
http://purl.obolibrary.org/obo/GARD_0000420 EquivalentTo 'constitutional mismatch repair deficiency syndrome'
http://purl.obolibrary.org/obo/GARD_0000427
http://purl.obolibrary.org/obo/GARD_0000427 EquivalentTo 'ptosis-vocal cord paralysis syndrome'
http://purl.obolibrary.org/obo/GARD_0000425
http://purl.obolibrary.org/obo/GARD_0000425 EquivalentTo 'tufted angioma (disease)'
http://purl.obolibrary.org/obo/GARD_0000357
http://purl.obolibrary.org/obo/GARD_0000357 EquivalentTo 'microtia with meatal atresia and conductive deafness'
http://purl.obolibrary.org/obo/GARD_0000354
http://purl.obolibrary.org/obo/GARD_0000354 EquivalentTo 'osteopenia-intellectual disability-sparse hair syndrome'
http://purl.obolibrary.org/obo/GARD_0000359
http://purl.obolibrary.org/obo/GARD_0000359 EquivalentTo 'cranioectodermal dysplasia'
http://purl.obolibrary.org/obo/GARD_0000358
http://purl.obolibrary.org/obo/GARD_0000358 EquivalentTo 'W syndrome'
http://purl.obolibrary.org/obo/GARD_0000363
http://purl.obolibrary.org/obo/GARD_0000363 EquivalentTo 'acatalasia'
http://purl.obolibrary.org/obo/GARD_0000368
http://purl.obolibrary.org/obo/GARD_0000368 EquivalentTo 'laryngo-onycho-cutaneous syndrome'
http://purl.obolibrary.org/obo/GARD_0000369
http://purl.obolibrary.org/obo/GARD_0000369 EquivalentTo 'choroideremia-deafness-obesity syndrome'
http://purl.obolibrary.org/obo/GARD_0000375
http://purl.obolibrary.org/obo/GARD_0000375 EquivalentTo 'Zlotogora-Ogur syndrome'
http://purl.obolibrary.org/obo/GARD_0000374
http://purl.obolibrary.org/obo/GARD_0000374 EquivalentTo 'pectus excavatum-macrocephaly-dysplastic nails syndrome'
http://purl.obolibrary.org/obo/GARD_0000379
http://purl.obolibrary.org/obo/GARD_0000379 EquivalentTo 'renal tubular dysgenesis'
http://purl.obolibrary.org/obo/GARD_0000376
http://purl.obolibrary.org/obo/GARD_0000376 EquivalentTo 'acheiropody'
http://purl.obolibrary.org/obo/GARD_0000381
http://purl.obolibrary.org/obo/GARD_0000381 EquivalentTo 'arachnodactyly-abnormal ossification-intellectual disability syndrome'
http://purl.obolibrary.org/obo/GARD_0000386
http://purl.obolibrary.org/obo/GARD_0000386 EquivalentTo 'tetraamelia-multiple malformations syndrome'
http://purl.obolibrary.org/obo/GARD_0000385
http://purl.obolibrary.org/obo/GARD_0000385 EquivalentTo 'Zimmermann-Laband syndrome'
http://purl.obolibrary.org/obo/GARD_0000384
http://purl.obolibrary.org/obo/GARD_0000384 EquivalentTo 'ADULT syndrome'
http://purl.obolibrary.org/obo/GARD_0000383
http://purl.obolibrary.org/obo/GARD_0000383 EquivalentTo 'autosomal dominant osteopetrosis 2'
http://purl.obolibrary.org/obo/GARD_0000388
http://purl.obolibrary.org/obo/GARD_0000388 EquivalentTo 'amelia cleft lip palate hydrocephalus iris coloboma'
http://purl.obolibrary.org/obo/GARD_0000387
http://purl.obolibrary.org/obo/GARD_0000387 EquivalentTo 'combined immunodeficiency due to ZAP70 deficiency'
http://purl.obolibrary.org/obo/GARD_0000392
http://purl.obolibrary.org/obo/GARD_0000392 EquivalentTo 'weinstein kliman scully syndrome'
http://purl.obolibrary.org/obo/GARD_0000390
http://purl.obolibrary.org/obo/GARD_0000390 EquivalentTo 'autosomal dominant osteosclerosis, Worth type'
http://purl.obolibrary.org/obo/GARD_0000395
http://purl.obolibrary.org/obo/GARD_0000395 EquivalentTo 'retinal degeneration-nanophthalmos-glaucoma syndrome'
http://purl.obolibrary.org/obo/GARD_0000394
http://purl.obolibrary.org/obo/GARD_0000394 EquivalentTo 'radioulnar synostosis-microcephaly-scoliosis syndrome'
http://purl.obolibrary.org/obo/GARD_0000319
http://purl.obolibrary.org/obo/GARD_0000319 EquivalentTo 'sacrococcygeal teratoma'
http://purl.obolibrary.org/obo/GARD_0000312
http://purl.obolibrary.org/obo/GARD_0000312 EquivalentTo 'Robinow syndrome'
http://purl.obolibrary.org/obo/GARD_0000311
http://purl.obolibrary.org/obo/GARD_0000311 EquivalentTo 'Saal-Bulas syndrome'
http://purl.obolibrary.org/obo/GARD_0000310
http://purl.obolibrary.org/obo/GARD_0000310 EquivalentTo 'CHIME syndrome'
http://purl.obolibrary.org/obo/GARD_0000317
http://purl.obolibrary.org/obo/GARD_0000317 EquivalentTo 'sacral hemangiomas multiple congenital abnormalities'
http://purl.obolibrary.org/obo/GARD_0000315
http://purl.obolibrary.org/obo/GARD_0000315 EquivalentTo 'Sackey-Sakati-Aur syndrome'
http://purl.obolibrary.org/obo/GARD_0000314
http://purl.obolibrary.org/obo/GARD_0000314 EquivalentTo 'Saccharopinuria'
http://purl.obolibrary.org/obo/GARD_0000320
http://purl.obolibrary.org/obo/GARD_0000320 EquivalentTo 'Fibulo-ulnar hypoplasia-renal anomalies syndrome'
http://purl.obolibrary.org/obo/GARD_0000324
http://purl.obolibrary.org/obo/GARD_0000324 EquivalentTo 'Slti-Salem syndrome'
http://purl.obolibrary.org/obo/GARD_0000322
http://purl.obolibrary.org/obo/GARD_0000322 EquivalentTo 'Senior-Loken syndrome'
http://purl.obolibrary.org/obo/GARD_0000321
http://purl.obolibrary.org/obo/GARD_0000321 EquivalentTo 'nail-patella-like renal disease'
http://purl.obolibrary.org/obo/MESH_C566489
http://purl.obolibrary.org/obo/MESH_C566489 EquivalentTo 'MYP12'
http://purl.obolibrary.org/obo/GARD_0000328
http://purl.obolibrary.org/obo/GARD_0000328 EquivalentTo 'wandering spleen'
http://purl.obolibrary.org/obo/GARD_0000325
http://purl.obolibrary.org/obo/GARD_0000325 EquivalentTo 'twin to twin transfusion syndrome'
http://purl.obolibrary.org/obo/GARD_0000330
http://purl.obolibrary.org/obo/GARD_0000330 EquivalentTo 'Wiedemann-Rautenstrauch syndrome'
http://purl.obolibrary.org/obo/GARD_0000334
http://purl.obolibrary.org/obo/GARD_0000334 EquivalentTo 'dyschromatosis symmetrica hereditaria'
http://purl.obolibrary.org/obo/GARD_0000339
http://purl.obolibrary.org/obo/GARD_0000339 EquivalentTo 'zazam sheriff phillips syndrome'
http://purl.obolibrary.org/obo/GARD_0000338
http://purl.obolibrary.org/obo/GARD_0000338 EquivalentTo 'zerres rietschel majewski syndrome'
http://purl.obolibrary.org/obo/GARD_0000336
http://purl.obolibrary.org/obo/GARD_0000336 EquivalentTo 'hereditary spastic paraplegia 23'
http://purl.obolibrary.org/obo/MESH_C566490
http://purl.obolibrary.org/obo/MESH_C566490 EquivalentTo 'MYP11'
http://purl.obolibrary.org/obo/MESH_C566494
http://purl.obolibrary.org/obo/MESH_C566494 EquivalentTo 'hyperinsulinism due to INSR deficiency'
http://purl.obolibrary.org/obo/GARD_0000340
http://purl.obolibrary.org/obo/GARD_0000340 EquivalentTo 'zadik barak levin syndrome'
http://purl.obolibrary.org/obo/GARD_0000346
http://purl.obolibrary.org/obo/GARD_0000346 EquivalentTo 'Hoyeraal-Hreidarsson syndrome'
http://purl.obolibrary.org/obo/GARD_0000345
http://purl.obolibrary.org/obo/GARD_0000345 EquivalentTo 'X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome'
http://purl.obolibrary.org/obo/GARD_0000344
http://purl.obolibrary.org/obo/GARD_0000344 EquivalentTo 'holoprosencephaly-postaxial polydactyly syndrome'
http://purl.obolibrary.org/obo/GARD_0000349
http://purl.obolibrary.org/obo/GARD_0000349 EquivalentTo 'neuroaxonal dystrophy renal tubular acidosis'
http://purl.obolibrary.org/obo/GARD_0000348
http://purl.obolibrary.org/obo/GARD_0000348 EquivalentTo 'testicular yolk sac tumor'
http://purl.obolibrary.org/obo/GARD_0000347
http://purl.obolibrary.org/obo/GARD_0000347 EquivalentTo 'pancreatic hypoplasia-diabetes-congenital heart disease syndrome'
http://purl.obolibrary.org/obo/GARD_0000351
http://purl.obolibrary.org/obo/GARD_0000351 EquivalentTo 'dacryocystitis-osteopoikilosis syndrome'
http://purl.obolibrary.org/obo/GARD_0000350
http://purl.obolibrary.org/obo/GARD_0000350 EquivalentTo 'skeletal dysplasia-epilepsy-short stature syndrome'
http://purl.obolibrary.org/obo/MESH_C566436
http://purl.obolibrary.org/obo/MESH_C566436 EquivalentTo 'GLC1M'
http://purl.obolibrary.org/obo/MESH_C566438
http://purl.obolibrary.org/obo/MESH_C566438 EquivalentTo 'neuronal ceroid lipofuscinosis 10'
http://purl.obolibrary.org/obo/MESH_C566441
http://purl.obolibrary.org/obo/MESH_C566441 EquivalentTo 'syndromic microphthalmia type 5'
http://purl.obolibrary.org/obo/MESH_C566450
http://purl.obolibrary.org/obo/MESH_C566450 EquivalentTo 'HRPT3'
http://purl.obolibrary.org/obo/MONDO_0043606
pathologic fracture
'pathologic fracture' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008574
'pathologic fracture' SubClassOf 'bone fracture'
'pathologic fracture' EquivalentTo http://purl.obolibrary.org/obo/SCTID_268029009
'pathologic fracture' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3047
http://purl.obolibrary.org/obo/GARD_0000399
http://purl.obolibrary.org/obo/GARD_0000399 EquivalentTo '46,XX testicular disorder of sex development'
http://purl.obolibrary.org/obo/MONDO_0043653
herpes labialis
'herpes labialis' SubClassOf 'digestive system infectious disease'
http://purl.obolibrary.org/obo/MESH_D006560 EquivalentTo 'herpes labialis'
'herpes labialis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34695
'herpes labialis' EquivalentTo 'herpes simplex infectious disease' and ('disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0001833)
'herpes labialis' SubClassOf 'herpes simplex infectious disease'
'herpes labialis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_1475003
'herpes labialis' SubClassOf 'lip disease'
http://purl.obolibrary.org/obo/MESH_C566400
http://purl.obolibrary.org/obo/MESH_C566400 EquivalentTo 'autosomal dominant nocturnal frontal lobe epilepsy 2'
http://purl.obolibrary.org/obo/MESH_C566419
http://purl.obolibrary.org/obo/MESH_C566419 EquivalentTo 'OFC2'
http://purl.obolibrary.org/obo/SCTID_23560001
'Asperger syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_23560001
http://purl.obolibrary.org/obo/SCTID_706970001
'triple-negative breast carcinoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_706970001
http://purl.obolibrary.org/obo/MONDO_0043693
alcoholic liver diseases
'alcoholic liver diseases' SubClassOf 'liver disease'
http://purl.obolibrary.org/obo/MESH_D008108 EquivalentTo 'alcoholic liver diseases'
'alcoholic liver diseases' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34783
'alcoholic liver diseases' SubClassOf 'alcohol-induced disorders'
'alcoholic liver diseases' EquivalentTo http://purl.obolibrary.org/obo/SCTID_41309000
http://purl.obolibrary.org/obo/MONDO_0043678
chromosome inversion
'chromosome inversion' SubClassOf 'chromosomal anomaly'
http://purl.obolibrary.org/obo/MESH_D007446 EquivalentTo 'chromosome inversion'
'chromosome inversion' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C6827
http://purl.obolibrary.org/obo/MONDO_0043683
Leriche syndrome
'Leriche syndrome' SubClassOf 'syndromic disease'
'Leriche syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_307816004
'Leriche syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34773
http://purl.obolibrary.org/obo/MESH_D007925 EquivalentTo 'Leriche syndrome'
'Leriche syndrome' SubClassOf 'aortic disease'
http://purl.obolibrary.org/obo/SCTID_401303003
'ST-elevation myocardial infarction' EquivalentTo http://purl.obolibrary.org/obo/SCTID_401303003
http://purl.obolibrary.org/obo/NCIT_C27589
'infectious disease with peripheral neuropathy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C27589
http://purl.obolibrary.org/obo/PR_000009651
http://purl.obolibrary.org/obo/ICD10_I05.I09
http://purl.obolibrary.org/obo/ICD10_I05.I09 EquivalentTo 'rheumatic heart disease'
http://purl.obolibrary.org/obo/NCIT_C27594
'facial nerve disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C27594
http://purl.obolibrary.org/obo/GARD_0000307
http://purl.obolibrary.org/obo/GARD_0000307 EquivalentTo 'Jacobsen syndrome'
http://purl.obolibrary.org/obo/NCIT_C104813
'second branchial cleft anomaly' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C104813
http://purl.obolibrary.org/obo/GARD_0000302
http://purl.obolibrary.org/obo/GARD_0000302 EquivalentTo 'Kostmann syndrome'
http://purl.obolibrary.org/obo/GARD_0000301
http://purl.obolibrary.org/obo/GARD_0000301 EquivalentTo 'thyroid hormone resistance, generalized, autosomal recessive'
http://purl.obolibrary.org/obo/GARD_0000305
http://purl.obolibrary.org/obo/GARD_0000305 EquivalentTo 'conductive deafness-ptosis-skeletal anomalies syndrome'
http://purl.obolibrary.org/obo/MESH_D056267
http://purl.obolibrary.org/obo/MESH_D056267 EquivalentTo 'localized pagetoid reticulosis'
http://purl.obolibrary.org/obo/MESH_C566157
http://purl.obolibrary.org/obo/MESH_C566157 EquivalentTo 'cataract 30'
http://purl.obolibrary.org/obo/GARD_0000234
http://purl.obolibrary.org/obo/GARD_0000234 EquivalentTo 'D-glyceric aciduria'
http://purl.obolibrary.org/obo/GARD_0000238
http://purl.obolibrary.org/obo/GARD_0000238 EquivalentTo 'Odontomatosis-aortae esophagus stenosis syndrome'
http://purl.obolibrary.org/obo/GARD_0000243
http://purl.obolibrary.org/obo/GARD_0000243 EquivalentTo 'trigonocephaly-short stature-developmental delay syndrome'
http://purl.obolibrary.org/obo/GARD_0000241
http://purl.obolibrary.org/obo/GARD_0000241 EquivalentTo 'scalp defects-postaxial polydactyly syndrome'
http://purl.obolibrary.org/obo/GARD_0000240
http://purl.obolibrary.org/obo/GARD_0000240 EquivalentTo 'Say-Carpenter syndrome'
http://purl.obolibrary.org/obo/SCTID_26460006
'epiphysiolysis of the hip' EquivalentTo http://purl.obolibrary.org/obo/SCTID_26460006
http://purl.obolibrary.org/obo/GARD_0000247
http://purl.obolibrary.org/obo/GARD_0000247 EquivalentTo 'scarf syndrome'
http://purl.obolibrary.org/obo/GARD_0000249
http://purl.obolibrary.org/obo/GARD_0000249 EquivalentTo 'craniodiaphyseal dysplasia, autosomal dominant'
http://purl.obolibrary.org/obo/GARD_0000248
http://purl.obolibrary.org/obo/GARD_0000248 EquivalentTo 'Schaap-Taylor-Baraitser syndrome'
http://purl.obolibrary.org/obo/GARD_0000250
http://purl.obolibrary.org/obo/GARD_0000250 EquivalentTo 'Schwartz-Jampel syndrome'
http://purl.obolibrary.org/obo/GARD_0000253
http://purl.obolibrary.org/obo/GARD_0000253 EquivalentTo 'Schwartz-Cohen-addad-Lambert syndrome'
http://purl.obolibrary.org/obo/GARD_0000258
http://purl.obolibrary.org/obo/GARD_0000258 EquivalentTo 'Schmitt-Gillenwater-Kelly syndrome'
http://purl.obolibrary.org/obo/GARD_0000257
http://purl.obolibrary.org/obo/GARD_0000257 EquivalentTo 'intellectual disability-balding-patella luxation-acromicria syndrome'
http://purl.obolibrary.org/obo/GARD_0000256
http://purl.obolibrary.org/obo/GARD_0000256 EquivalentTo 'Schrander-stumpel-Theunissen-Hulsmans syndrome'
http://purl.obolibrary.org/obo/GARD_0000255
http://purl.obolibrary.org/obo/GARD_0000255 EquivalentTo 'Schlegelberger-Grote syndrome'
http://purl.obolibrary.org/obo/GARD_0000262
http://purl.obolibrary.org/obo/GARD_0000262 EquivalentTo 'NARP syndrome'
http://purl.obolibrary.org/obo/GARD_0000267
http://purl.obolibrary.org/obo/GARD_0000267 EquivalentTo 'Keipert syndrome'
http://purl.obolibrary.org/obo/GARD_0000272
http://purl.obolibrary.org/obo/GARD_0000272 EquivalentTo 'VACTERL with hydrocephalus'
http://purl.obolibrary.org/obo/GARD_0000271
http://purl.obolibrary.org/obo/GARD_0000271 EquivalentTo 'Vagneur-Triolle-Ripert syndrome'
http://purl.obolibrary.org/obo/GARD_0000270
http://purl.obolibrary.org/obo/GARD_0000270 EquivalentTo 'intellectual disability-sparse hair-brachydactyly syndrome'
http://purl.obolibrary.org/obo/GARD_0000274
http://purl.obolibrary.org/obo/GARD_0000274 EquivalentTo 'X-linked immunoneurologic disorder'
http://purl.obolibrary.org/obo/GARD_0000273
http://purl.obolibrary.org/obo/GARD_0000273 EquivalentTo 'wrinkly skin syndrome'
http://purl.obolibrary.org/obo/GARD_0000207
http://purl.obolibrary.org/obo/GARD_0000207 EquivalentTo 'alveolar echinococcosis'
http://purl.obolibrary.org/obo/GARD_0000206
http://purl.obolibrary.org/obo/GARD_0000206 EquivalentTo 'nephronophthisis (disease)'
http://purl.obolibrary.org/obo/GARD_0000210
http://purl.obolibrary.org/obo/GARD_0000210 EquivalentTo 'Ruzicka-Goerz-Anton syndrome'
http://purl.obolibrary.org/obo/GARD_0000212
http://purl.obolibrary.org/obo/GARD_0000212 EquivalentTo 'oculodental syndrome, Rutherfurd type'
http://purl.obolibrary.org/obo/GARD_0000217
http://purl.obolibrary.org/obo/GARD_0000217 EquivalentTo 'metaphyseal modeling abnormality, skin lesions, and spastic paraplegia'
http://purl.obolibrary.org/obo/GARD_0000216
http://purl.obolibrary.org/obo/GARD_0000216 EquivalentTo 'camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye'
http://purl.obolibrary.org/obo/GARD_0000215
http://purl.obolibrary.org/obo/GARD_0000215 EquivalentTo 'familial caudal dysgenesis'
http://purl.obolibrary.org/obo/GARD_0000221
http://purl.obolibrary.org/obo/GARD_0000221 EquivalentTo 'familial dilated cardiomyopathy'
http://purl.obolibrary.org/obo/GARD_0000220
http://purl.obolibrary.org/obo/GARD_0000220 EquivalentTo 'peripartum cardiomyopathy'
http://purl.obolibrary.org/obo/GARD_0000225
http://purl.obolibrary.org/obo/GARD_0000225 EquivalentTo 'radial hemimelia'
http://purl.obolibrary.org/obo/GARD_0000223
http://purl.obolibrary.org/obo/GARD_0000223 EquivalentTo 'acoustic neuroma'
http://purl.obolibrary.org/obo/GARD_0000231
http://purl.obolibrary.org/obo/GARD_0000231 EquivalentTo 'leukoencephalopathy with vanishing white matter'
http://purl.obolibrary.org/obo/GARD_0000230
http://purl.obolibrary.org/obo/GARD_0000230 EquivalentTo 'microcephaly-deafness-intellectual disability syndrome'
http://purl.obolibrary.org/obo/MESH_D056660
http://purl.obolibrary.org/obo/MESH_D056660 EquivalentTo 'hereditary periodic fever syndrome'
http://purl.obolibrary.org/obo/MESH_D017099
http://purl.obolibrary.org/obo/MESH_D017099 EquivalentTo 'selective IgG deficiency disease'
http://purl.obolibrary.org/obo/MESH_D056650
http://purl.obolibrary.org/obo/MESH_D056650 EquivalentTo 'vulvodynia'
http://purl.obolibrary.org/obo/MESH_D056653
http://purl.obolibrary.org/obo/MESH_D056653 EquivalentTo 'rheumatoid vasculitis'
http://purl.obolibrary.org/obo/GARD_0000277
http://purl.obolibrary.org/obo/GARD_0000277 EquivalentTo 'pilodental dysplasia-refractive errors syndrome'
http://purl.obolibrary.org/obo/GARD_0000282
http://purl.obolibrary.org/obo/GARD_0000282 EquivalentTo 'lethal osteosclerotic bone dysplasia'
http://purl.obolibrary.org/obo/GARD_0000280
http://purl.obolibrary.org/obo/GARD_0000280 EquivalentTo 'hidrotic ectodermal dysplasia, Halal type'
http://purl.obolibrary.org/obo/GARD_0000287
http://purl.obolibrary.org/obo/GARD_0000287 EquivalentTo 'hypertelorism-hypospadias-polysyndactyly syndrome'
http://purl.obolibrary.org/obo/MONDO_0043537
cluster headache syndrome
'cluster headache syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C117077
http://purl.obolibrary.org/obo/MESH_D003027 EquivalentTo 'cluster headache syndrome'
'cluster headache syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_193031009
'cluster headache syndrome' SubClassOf 'trigeminal autonomic cephalalgia'
'cluster headache syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008571
'cluster headache syndrome' SubClassOf 'brain disease'
http://purl.obolibrary.org/obo/MONDO_0043541
viral conjunctivitis
'viral conjunctivitis' SubClassOf 'rare conjunctival disease'
'viral conjunctivitis' SubClassOf 'rare viral disease'
http://purl.obolibrary.org/obo/MESH_D003236 EquivalentTo 'viral conjunctivitis'
'viral conjunctivitis' EquivalentTo 'conjunctivitis (disease)' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_10239)
'viral conjunctivitis' SubClassOf 'conjunctivitis (disease)'
'viral conjunctivitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34509
'viral conjunctivitis' SubClassOf 'eye infectious disease'
'viral conjunctivitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_45261009
http://purl.obolibrary.org/obo/MONDO_0043544
nosocomial infection
'nosocomial infection' SubClassOf 'iatrogenic disease'
'nosocomial infection' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C115164
'nosocomial infection' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001299
http://purl.obolibrary.org/obo/MESH_D003428 EquivalentTo 'nosocomial infection'
'nosocomial infection' SubClassOf 'infectious disease'
'nosocomial infection' EquivalentTo 'infectious disease' and 'iatrogenic disease'
'nosocomial infection' EquivalentTo http://purl.obolibrary.org/obo/SCTID_19168005
http://purl.obolibrary.org/obo/MONDO_0043543
iatrogenic disease
http://purl.obolibrary.org/obo/MESH_D007049 EquivalentTo 'iatrogenic disease'
'iatrogenic disease' SubClassOf 'disease or disorder'
'iatrogenic disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_12456005
http://purl.obolibrary.org/obo/GARD_0000293
http://purl.obolibrary.org/obo/GARD_0000293 EquivalentTo 'ectodermal dysplasia-blindness syndrome'
http://purl.obolibrary.org/obo/MONDO_0043549
crush syndrome
'crush syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_23697004
http://purl.obolibrary.org/obo/MESH_D003444 EquivalentTo 'crush syndrome'
'crush syndrome' SubClassOf 'kidney disease'
'crush syndrome' SubClassOf 'disease arises from feature' some 'injury'
http://purl.obolibrary.org/obo/GARD_0000292
http://purl.obolibrary.org/obo/GARD_0000292 EquivalentTo 'ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome'
http://purl.obolibrary.org/obo/GARD_0000291
http://purl.obolibrary.org/obo/GARD_0000291 EquivalentTo 'multiple exostoses with spastic tetraparesis'
http://purl.obolibrary.org/obo/GARD_0000298
http://purl.obolibrary.org/obo/GARD_0000298 EquivalentTo 'hypergonadotropic hypogonadism-cataract syndrome'
http://purl.obolibrary.org/obo/GARD_0000296
http://purl.obolibrary.org/obo/GARD_0000296 EquivalentTo 'short tarsus-absence of lower eyelashes syndrome'
http://purl.obolibrary.org/obo/GARD_0000299
http://purl.obolibrary.org/obo/GARD_0000299 EquivalentTo 'late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome'
http://purl.obolibrary.org/obo/MONDO_0043510
brain injury
http://purl.obolibrary.org/obo/MESH_D001930 EquivalentTo 'brain injury'
'brain injury' SubClassOf 'injury'
'brain injury' EquivalentTo 'injury' and ('disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0000955)
'brain injury' SubClassOf 'brain disease'
http://purl.obolibrary.org/obo/MONDO_0043519
burn
'burn' EquivalentTo http://purl.obolibrary.org/obo/SCTID_125666000
'burn' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001768
'burn' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34441
http://purl.obolibrary.org/obo/MESH_D002056 EquivalentTo 'burn'
'burn' SubClassOf 'injury'
http://purl.obolibrary.org/obo/MONDO_0043512
traumatic encephalopathy
'traumatic encephalopathy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35542
'traumatic encephalopathy' SubClassOf 'brain disease'
'traumatic encephalopathy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001277
'traumatic encephalopathy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_230282000
'traumatic encephalopathy' SubClassOf 'disease arises from feature' some 'brain injury'
http://purl.obolibrary.org/obo/MONDO_0043529
carcinoid heart disease
'carcinoid heart disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001775
'carcinoid heart disease' SubClassOf 'disease arises from feature' some 'carcinoid tumor (disease)'
'carcinoid heart disease' SubClassOf 'heart disease'
http://purl.obolibrary.org/obo/MESH_D002275 EquivalentTo 'carcinoid heart disease'
'carcinoid heart disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_36222008
http://purl.obolibrary.org/obo/MONDO_0043523
cadmium poisoning
http://purl.obolibrary.org/obo/MESH_D002105 EquivalentTo 'cadmium poisoning'
'cadmium poisoning' SubClassOf 'poisoning'
'cadmium poisoning' EquivalentTo 'poisoning' and ('realized in response to' some http://purl.obolibrary.org/obo/ECTO_0001566)
'cadmium poisoning' EquivalentTo http://purl.obolibrary.org/obo/SCTID_3398004
'cadmium poisoning' SubClassOf 'realized in response to' some http://purl.obolibrary.org/obo/ECTO_0001566
http://purl.obolibrary.org/obo/MONDO_0043576
endarteritis
'endarteritis' SubClassOf 'disease HAS inflammation site' some http://purl.obolibrary.org/obo/UBERON_0005740
'endarteritis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34581
'endarteritis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_33806008
'endarteritis' SubClassOf 'arteritis'
'endarteritis' EquivalentTo 'disease or disorder' and ('disease HAS inflammation site' some http://purl.obolibrary.org/obo/UBERON_0005740)
http://purl.obolibrary.org/obo/MESH_D004692 EquivalentTo 'endarteritis'
http://www.ebi.ac.uk/efo/EFO_0002319
'Reunion island Larsen syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0002319
http://purl.obolibrary.org/obo/MONDO_0043579
enteritis
'enteritis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_64613007
'enteritis' SubClassOf 'gastroenteritis'
'enteritis' EquivalentTo 'disease or disorder' and ('disease HAS inflammation site' some http://purl.obolibrary.org/obo/UBERON_0002108)
'enteritis' SubClassOf 'disease HAS inflammation site' some http://purl.obolibrary.org/obo/UBERON_0002108
'enteritis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C26765
http://purl.obolibrary.org/obo/MESH_D004751 EquivalentTo 'enteritis'
'enteritis' SubClassOf 'small intestine disease'
http://purl.obolibrary.org/obo/MONDO_0043589
femoral neck fracture
'femoral neck fracture' EquivalentTo 'bone fracture' and ('disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0007119)
http://purl.obolibrary.org/obo/MESH_D005265 EquivalentTo 'femoral neck fracture'
'femoral neck fracture' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001793
'femoral neck fracture' SubClassOf 'disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0007119
'femoral neck fracture' SubClassOf 'hip fracture'
'femoral neck fracture' EquivalentTo http://purl.obolibrary.org/obo/SCTID_5913000
http://purl.obolibrary.org/obo/MONDO_0043555
infantile diarrhea
http://purl.obolibrary.org/obo/MESH_D003968 EquivalentTo 'infantile diarrhea'
'infantile diarrhea' EquivalentTo http://purl.obolibrary.org/obo/SCTID_39963006
'infantile diarrhea' SubClassOf 'diarrhea (disease)'
http://www.ebi.ac.uk/efo/EFO_0002326
'Spondyloenchondrodysplasia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0002326
http://purl.obolibrary.org/obo/NCIT_C37005
'neoplastic medium-sized B-lymphocyte with basophilic cytoplasm' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C37005
http://purl.obolibrary.org/obo/SCTID_239030004
'orofaciodigital syndrome III' EquivalentTo http://purl.obolibrary.org/obo/SCTID_239030004
http://purl.obolibrary.org/obo/SCTID_359761005
'Hantavirus infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_359761005
http://purl.obolibrary.org/obo/SCTID_19598007
'generalised epilepsy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_19598007
http://purl.obolibrary.org/obo/SCTID_285310000
'anal canal carcinoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_285310000
http://purl.obolibrary.org/obo/GARD_0000115
http://purl.obolibrary.org/obo/GARD_0000115 EquivalentTo 'Sakati-Nyhan syndrome'
http://purl.obolibrary.org/obo/GARD_0000114
http://purl.obolibrary.org/obo/GARD_0000114 EquivalentTo 'Charcot-Marie-tooth disease X-linked recessive 5'
http://purl.obolibrary.org/obo/GARD_0000113
http://purl.obolibrary.org/obo/GARD_0000113 EquivalentTo 'arteriosclerotic retinopathy'
http://purl.obolibrary.org/obo/GARD_0000112
http://purl.obolibrary.org/obo/GARD_0000112 EquivalentTo 'newborn respiratory distress syndrome'
http://purl.obolibrary.org/obo/GARD_0000117
http://purl.obolibrary.org/obo/GARD_0000117 EquivalentTo 'Schinzel-Giedion syndrome'
http://purl.obolibrary.org/obo/GARD_0000116
http://purl.obolibrary.org/obo/GARD_0000116 EquivalentTo 'alpha-N-acetylgalactosaminidase deficiency type 1'
http://purl.obolibrary.org/obo/GARD_0000122
http://purl.obolibrary.org/obo/GARD_0000122 EquivalentTo 'singleton-Merten dysplasia'
http://purl.obolibrary.org/obo/GARD_0000121
http://purl.obolibrary.org/obo/GARD_0000121 EquivalentTo 'focal facial dermal dysplasia type III'
http://purl.obolibrary.org/obo/GARD_0000125
http://purl.obolibrary.org/obo/GARD_0000125 EquivalentTo 'punctate palmoplantar keratoderma type III'
http://purl.obolibrary.org/obo/MESH_C566284
http://purl.obolibrary.org/obo/MESH_C566284 EquivalentTo 'ANIB1'
http://purl.obolibrary.org/obo/GARD_0000133
http://purl.obolibrary.org/obo/GARD_0000133 EquivalentTo 'punctate palmoplantar keratoderma type III'
http://purl.obolibrary.org/obo/SCTID_11851006
'mitral valve disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_11851006
http://purl.obolibrary.org/obo/GARD_0000140
http://purl.obolibrary.org/obo/GARD_0000140 EquivalentTo 'atresia of small intestine'
http://purl.obolibrary.org/obo/GARD_0000143
http://purl.obolibrary.org/obo/GARD_0000143 EquivalentTo 'hypertrichosis cubiti-short stature syndrome'
http://purl.obolibrary.org/obo/GARD_0000148
http://purl.obolibrary.org/obo/GARD_0000148 EquivalentTo 'macrocephaly/megalencephaly syndrome, autosomal recessive'
http://purl.obolibrary.org/obo/GARD_0000149
http://purl.obolibrary.org/obo/GARD_0000149 EquivalentTo 'prostatic malacoplakia associated with prostatic abscess'
http://purl.obolibrary.org/obo/GARD_0000151
http://purl.obolibrary.org/obo/GARD_0000151 EquivalentTo 'Samson-Gardner syndrome'
http://purl.obolibrary.org/obo/GARD_0000150
http://purl.obolibrary.org/obo/GARD_0000150 EquivalentTo 'Sammartino-Decreccio syndrome'
http://purl.obolibrary.org/obo/SCTID_238935002
'amyopathic dermatomyositis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_238935002
http://purl.obolibrary.org/obo/GARD_0000154
http://purl.obolibrary.org/obo/GARD_0000154 EquivalentTo 'Sandhaus-Ben-Ami syndrome'
http://purl.obolibrary.org/obo/GARD_0000153
http://purl.obolibrary.org/obo/GARD_0000153 EquivalentTo 'Sanderson-Fraser syndrome'
http://purl.obolibrary.org/obo/GARD_0000152
http://purl.obolibrary.org/obo/GARD_0000152 EquivalentTo 'Samson-Viljoen syndrome'
http://purl.obolibrary.org/obo/SCTID_263225007
'hip fracture' EquivalentTo http://purl.obolibrary.org/obo/SCTID_263225007
http://purl.obolibrary.org/obo/SCTID_78572006
'neurocutaneous syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_78572006
http://purl.obolibrary.org/obo/GARD_0000104
http://purl.obolibrary.org/obo/GARD_0000104 EquivalentTo 'Ochoa syndrome'
http://purl.obolibrary.org/obo/MESH_C566267
http://purl.obolibrary.org/obo/MESH_C566267 EquivalentTo 'familial hypobetalipoproteinemia 1'
http://purl.obolibrary.org/obo/GARD_0000102
http://purl.obolibrary.org/obo/GARD_0000102 EquivalentTo 'Neu-Laxova syndrome'
http://purl.obolibrary.org/obo/GARD_0000107
http://purl.obolibrary.org/obo/GARD_0000107 EquivalentTo 'idiopathic acute eosinophilic pneumonia'
http://purl.obolibrary.org/obo/GARD_0000105
http://purl.obolibrary.org/obo/GARD_0000105 EquivalentTo 'oculocerebral hypopigmentation syndrome, cross type'
http://purl.obolibrary.org/obo/GARD_0000159
http://purl.obolibrary.org/obo/GARD_0000159 EquivalentTo 'scalp-ear-nipple syndrome'
http://purl.obolibrary.org/obo/GARD_0000157
http://purl.obolibrary.org/obo/GARD_0000157 EquivalentTo 'Hirschsprung disease-deafness-polydactyly syndrome'
http://purl.obolibrary.org/obo/GARD_0000162
http://purl.obolibrary.org/obo/GARD_0000162 EquivalentTo 'cleft palate-large ears-small head syndrome'
http://purl.obolibrary.org/obo/GARD_0000161
http://purl.obolibrary.org/obo/GARD_0000161 EquivalentTo 'Saul-Wilkes-Stevenson syndrome'
http://purl.obolibrary.org/obo/GARD_0000166
http://purl.obolibrary.org/obo/GARD_0000166 EquivalentTo 'schizencephaly'
http://purl.obolibrary.org/obo/GARD_0000172
http://purl.obolibrary.org/obo/GARD_0000172 EquivalentTo 'macrocephaly, mental retardation, short stature, spastic paraplegia and cns malformations'
http://purl.obolibrary.org/obo/GARD_0000177
http://purl.obolibrary.org/obo/GARD_0000177 EquivalentTo 'macrosomia-microphthalmia-cleft palate syndrome'
http://purl.obolibrary.org/obo/MONDO_0043424
digestive system infectious disease
'digestive system infectious disease' EquivalentTo 'infectious disease' and ('disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0001007)
'digestive system infectious disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35503
'digestive system infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_715852004
'digestive system infectious disease' SubClassOf 'disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0001007
'digestive system infectious disease' SubClassOf 'disease affecting anatomical system'
'digestive system infectious disease' SubClassOf 'infectious disease'
http://purl.obolibrary.org/obo/GARD_0000175
http://purl.obolibrary.org/obo/GARD_0000175 EquivalentTo 'free sialic acid storage disease, infantile form'
http://purl.obolibrary.org/obo/GARD_0000174
http://purl.obolibrary.org/obo/GARD_0000174 EquivalentTo 'macrogyria, pseudobulbar palsy and mental retardation'
http://purl.obolibrary.org/obo/SCTID_254731001
'nodular malignant melanoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254731001
http://purl.obolibrary.org/obo/GARD_0000179
http://purl.obolibrary.org/obo/GARD_0000179 EquivalentTo 'macrothrombocytopenia and progressive sensorineural deafness'
http://purl.obolibrary.org/obo/GARD_0000182
http://purl.obolibrary.org/obo/GARD_0000182 EquivalentTo 'best vitelliform macular dystrophy'
http://purl.obolibrary.org/obo/GARD_0000188
http://purl.obolibrary.org/obo/GARD_0000188 EquivalentTo 'Ogden syndrome'
http://purl.obolibrary.org/obo/GARD_0000185
http://purl.obolibrary.org/obo/GARD_0000185 EquivalentTo 'Y chromosome infertility due to DAZ1 deletion'
http://purl.obolibrary.org/obo/GARD_0000195
http://purl.obolibrary.org/obo/GARD_0000195 EquivalentTo 'hyperkalemic periodic paralysis'
http://purl.obolibrary.org/obo/GARD_0000194
http://purl.obolibrary.org/obo/GARD_0000194 EquivalentTo 'GABA aminotransferase deficiency'
http://purl.obolibrary.org/obo/GARD_0000192
http://purl.obolibrary.org/obo/GARD_0000192 EquivalentTo 'cataract-intellectual disability-anal atresia-urinary defects syndrome'
http://purl.obolibrary.org/obo/GARD_0000198
http://purl.obolibrary.org/obo/GARD_0000198 EquivalentTo 'juvenile spinal muscular atrophy'
http://purl.obolibrary.org/obo/GARD_0000196
http://purl.obolibrary.org/obo/GARD_0000196 EquivalentTo 'ergotism'
http://purl.obolibrary.org/obo/MONDO_0043455
humoral hypercalcemia of malignancy
'humoral hypercalcemia of malignancy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_47709007
'humoral hypercalcemia of malignancy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3496
'humoral hypercalcemia of malignancy' SubClassOf 'paraneoplastic syndrome'
'humoral hypercalcemia of malignancy' SubClassOf 'hypercalcemia (disease)'
http://purl.obolibrary.org/obo/MESH_C562390 EquivalentTo 'humoral hypercalcemia of malignancy'
http://purl.obolibrary.org/obo/MONDO_0043452
chromosome 8, trisomy
'chromosome 8, trisomy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_205649008
http://purl.obolibrary.org/obo/MESH_C537942 EquivalentTo 'chromosome 8, trisomy'
'chromosome 8, trisomy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C36396
'chromosome 8, trisomy' SubClassOf 'autosomal trisomy'
http://purl.obolibrary.org/obo/MONDO_0043458
radiation injury
'radiation injury' SubClassOf 'injury'
http://purl.obolibrary.org/obo/MESH_D011832 EquivalentTo 'radiation injury'
'radiation injury' EquivalentTo 'injury' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/ECTO_0000002)
'radiation injury' SubClassOf 'radiation-induced disorder'
http://purl.obolibrary.org/obo/MONDO_0043459
radiation-induced disorder
'radiation-induced disorder' SubClassOf 'realized in response to stimulus' some http://purl.obolibrary.org/obo/ECTO_0000002
'radiation-induced disorder' EquivalentTo 'disease or disorder' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/ECTO_0000002)
'radiation-induced disorder' EquivalentTo http://purl.obolibrary.org/obo/SCTID_85983004
'radiation-induced disorder' SubClassOf 'disease or disorder'
'radiation-induced disorder' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C26684
http://purl.obolibrary.org/obo/MONDO_0043465
achlorhydria
'achlorhydria' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C2850
http://purl.obolibrary.org/obo/MESH_D000126 EquivalentTo 'achlorhydria'
'achlorhydria' EquivalentTo http://purl.obolibrary.org/obo/SCTID_47481007
'achlorhydria' SubClassOf 'stomach disease'
http://purl.obolibrary.org/obo/MONDO_0043468
acne keloid
'acne keloid' SubClassOf 'keloid'
'acne keloid' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34346
'acne keloid' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001256
'acne keloid' SubClassOf 'folliculitis'
'acne keloid' EquivalentTo http://purl.obolibrary.org/obo/SCTID_238746008
http://purl.obolibrary.org/obo/MESH_D000153 EquivalentTo 'acne keloid'
http://purl.obolibrary.org/obo/MONDO_0043494
arteritis
'arteritis' SubClassOf 'arterial disorder'
'arteritis' SubClassOf 'vasculitis'
'arteritis' EquivalentTo 'disease or disorder' and ('disease HAS inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001637)
'arteritis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34399
'arteritis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_52089001
http://purl.obolibrary.org/obo/MESH_D001167 EquivalentTo 'arteritis'
'arteritis' SubClassOf 'disease HAS inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001637
http://purl.obolibrary.org/obo/MONDO_0043475
Adams-Stokes syndrome
'Adams-Stokes syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C79765
'Adams-Stokes syndrome' SubClassOf 'syndromic disease'
'Adams-Stokes syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_46935006
'Adams-Stokes syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001259
http://purl.obolibrary.org/obo/MESH_D000219 EquivalentTo 'Adams-Stokes syndrome'
'Adams-Stokes syndrome' SubClassOf 'atrioventricular dissociation (disease)'
http://purl.obolibrary.org/obo/MONDO_0043472
ectopic ACTH secretion syndrome
'ectopic ACTH secretion syndrome' SubClassOf 'disease disrupts' some http://purl.obolibrary.org/obo/GO_0051458
'ectopic ACTH secretion syndrome' SubClassOf 'disease disrupting biological or physiological process'
'ectopic ACTH secretion syndrome' SubClassOf 'neoplastic syndrome'
'ectopic ACTH secretion syndrome' SubClassOf 'rare endocrine disease'
'ectopic ACTH secretion syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_626004
'ectopic ACTH secretion syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C4387
http://purl.obolibrary.org/obo/MESH_D000182 EquivalentTo 'ectopic ACTH secretion syndrome'
'ectopic ACTH secretion syndrome' SubClassOf 'adrenal gland disease'
http://purl.obolibrary.org/obo/MONDO_0043479
adenoviridae infectious disease
'adenoviridae infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_25225006
http://purl.obolibrary.org/obo/MESH_D000257 EquivalentTo 'adenoviridae infectious disease'
'adenoviridae infectious disease' SubClassOf 'viral infectious disease'
'adenoviridae infectious disease' SubClassOf 'realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_10508
'adenoviridae infectious disease' EquivalentTo 'disease or disorder' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_10508)
'adenoviridae infectious disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C115149
http://purl.obolibrary.org/obo/SCTID_110002002
'mast cell leukemia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_110002002
http://purl.obolibrary.org/obo/NCIT_C13184
'periostitis (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C13184
http://purl.obolibrary.org/obo/MESH_C566194
http://purl.obolibrary.org/obo/MESH_C566194 EquivalentTo 'brachydactyly type E1'
http://purl.obolibrary.org/obo/MESH_C566196
http://purl.obolibrary.org/obo/MESH_C566196 EquivalentTo 'brachydactyly type B1'
http://www.orpha.net/ORDO/Orphanet_123996
'glaucoma, normal tension, susceptibility to' EquivalentTo http://www.orpha.net/ORDO/Orphanet_123996
http://purl.obolibrary.org/obo/SCTID_427999003
'Brucella melitensis brucellosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_427999003
http://purl.obolibrary.org/obo/GARD_0010282
http://purl.obolibrary.org/obo/GARD_0010282 EquivalentTo 'craniosynostosis-mental retardation syndrome of 51N and Gettig'
http://purl.obolibrary.org/obo/GARD_0009299
http://purl.obolibrary.org/obo/GARD_0009299 EquivalentTo 'acute ackee fruit intoxication'
http://purl.obolibrary.org/obo/GARD_0010277
http://purl.obolibrary.org/obo/GARD_0010277 EquivalentTo 'thumbs, congenital Clasped'
http://purl.obolibrary.org/obo/GARD_0009296
http://purl.obolibrary.org/obo/GARD_0009296 EquivalentTo 'hereditary spastic paraplegia 24'
http://purl.obolibrary.org/obo/GARD_0009295
http://purl.obolibrary.org/obo/GARD_0009295 EquivalentTo 'thanatophoric dysplasia type 1'
http://purl.obolibrary.org/obo/GARD_0010295
http://purl.obolibrary.org/obo/GARD_0010295 EquivalentTo 'syndactyly-telecanthus-anogenital and renal malformations syndrome'
http://purl.obolibrary.org/obo/GARD_0010294
http://purl.obolibrary.org/obo/GARD_0010294 EquivalentTo 'autosomal recessive ataxia due to ubiquinone deficiency'
http://purl.obolibrary.org/obo/GARD_0010296
http://purl.obolibrary.org/obo/GARD_0010296 EquivalentTo 'chromosome 15q13.3 microdeletion syndrome'
http://purl.obolibrary.org/obo/GARD_0010288
http://purl.obolibrary.org/obo/GARD_0010288 EquivalentTo 'neutral lipid storage myopathy'
http://purl.obolibrary.org/obo/GARD_0010299
http://purl.obolibrary.org/obo/GARD_0010299 EquivalentTo '22q11.2 deletion syndrome'
http://purl.obolibrary.org/obo/GARD_0010240
http://purl.obolibrary.org/obo/GARD_0010240 EquivalentTo 'CoQ-responsive OXPHOS deficiency'
http://purl.obolibrary.org/obo/MESH_D007049
http://purl.obolibrary.org/obo/MESH_D007049 EquivalentTo 'iatrogenic disease'
http://purl.obolibrary.org/obo/GARD_0009258
http://purl.obolibrary.org/obo/GARD_0009258 EquivalentTo 'perineural cyst'
http://purl.obolibrary.org/obo/GARD_0009257
http://purl.obolibrary.org/obo/GARD_0009257 EquivalentTo 'SUNCT syndrome'
http://purl.obolibrary.org/obo/GARD_0009256
http://purl.obolibrary.org/obo/GARD_0009256 EquivalentTo 'myoclonus and ataxia'
http://purl.obolibrary.org/obo/GARD_0009255
http://purl.obolibrary.org/obo/GARD_0009255 EquivalentTo 'early infantile epileptic encephalopathy'
http://purl.obolibrary.org/obo/GARD_0009252
http://purl.obolibrary.org/obo/GARD_0009252 EquivalentTo 'tubulointerstitial nephritis and uveitis syndrome'
http://purl.obolibrary.org/obo/GARD_0010234
http://purl.obolibrary.org/obo/GARD_0010234 EquivalentTo 'cataract 6 multiple types'
http://purl.obolibrary.org/obo/GARD_0010237
http://purl.obolibrary.org/obo/GARD_0010237 EquivalentTo 'biotin-responsive basal ganglia disease'
http://purl.obolibrary.org/obo/GARD_0010239
http://purl.obolibrary.org/obo/GARD_0010239 EquivalentTo 'H syndrome'
http://purl.obolibrary.org/obo/GARD_0009267
http://purl.obolibrary.org/obo/GARD_0009267 EquivalentTo 'photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction'
http://purl.obolibrary.org/obo/GARD_0009266
http://purl.obolibrary.org/obo/GARD_0009266 EquivalentTo 'cutaneous neuroendocrine carcinoma'
http://purl.obolibrary.org/obo/GARD_0009264
http://purl.obolibrary.org/obo/GARD_0009264 EquivalentTo 'superior vena cava syndrome'
http://purl.obolibrary.org/obo/GARD_0010263
http://purl.obolibrary.org/obo/GARD_0010263 EquivalentTo 'hydatidiform mole'
http://purl.obolibrary.org/obo/GARD_0009279
http://purl.obolibrary.org/obo/GARD_0009279 EquivalentTo 'formiminoglutamic aciduria'
http://purl.obolibrary.org/obo/GARD_0009278
http://purl.obolibrary.org/obo/GARD_0009278 EquivalentTo 'granular corneal dystrophy type II'
http://purl.obolibrary.org/obo/SCTID_29212009
'alcohol-related disorders' EquivalentTo http://purl.obolibrary.org/obo/SCTID_29212009
http://purl.obolibrary.org/obo/GARD_0009277
http://purl.obolibrary.org/obo/GARD_0009277 EquivalentTo 'Schnyder corneal dystrophy'
http://purl.obolibrary.org/obo/GARD_0009276
http://purl.obolibrary.org/obo/GARD_0009276 EquivalentTo 'Reis-Bucklers corneal dystrophy'
http://purl.obolibrary.org/obo/GARD_0009270
http://purl.obolibrary.org/obo/GARD_0009270 EquivalentTo 'endolymphatic sac tumor (disease)'
http://purl.obolibrary.org/obo/GARD_0009280
http://purl.obolibrary.org/obo/GARD_0009280 EquivalentTo 'cholestasis-pigmentary retinopathy-cleft palate syndrome'
http://purl.obolibrary.org/obo/GARD_0010271
http://purl.obolibrary.org/obo/GARD_0010271 EquivalentTo 'RLS4'
http://purl.obolibrary.org/obo/SCTID_29608009
'acute epiglottitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_29608009
http://purl.obolibrary.org/obo/GARD_0010270
http://purl.obolibrary.org/obo/GARD_0010270 EquivalentTo 'RLS3'
http://purl.obolibrary.org/obo/GARD_0010273
http://purl.obolibrary.org/obo/GARD_0010273 EquivalentTo 'RLS6'
http://purl.obolibrary.org/obo/GARD_0010272
http://purl.obolibrary.org/obo/GARD_0010272 EquivalentTo 'RLS5'
http://purl.obolibrary.org/obo/GARD_0009288
http://purl.obolibrary.org/obo/GARD_0009288 EquivalentTo 'X-linked intellectual disability, Schimke type'
http://purl.obolibrary.org/obo/GARD_0010266
http://purl.obolibrary.org/obo/GARD_0010266 EquivalentTo 'cerebral amyloid angiopathy'
http://purl.obolibrary.org/obo/GARD_0009287
http://purl.obolibrary.org/obo/GARD_0009287 EquivalentTo 'atelosteogenesis type I'
http://purl.obolibrary.org/obo/GARD_0010265
http://purl.obolibrary.org/obo/GARD_0010265 EquivalentTo 'pityriasis lichenoides'
http://purl.obolibrary.org/obo/GARD_0009286
http://purl.obolibrary.org/obo/GARD_0009286 EquivalentTo 'gnathomiasis'
http://purl.obolibrary.org/obo/GARD_0009283
http://purl.obolibrary.org/obo/GARD_0009283 EquivalentTo 'ataxia with oculomotor apraxia type 1'
http://purl.obolibrary.org/obo/MONDO_0043300
actinic cheilitis
http://purl.obolibrary.org/obo/MESH_C535669 EquivalentTo 'actinic cheilitis'
'actinic cheilitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_46795000
http://purl.obolibrary.org/obo/GARD_0009619 EquivalentTo 'actinic cheilitis'
'actinic cheilitis' SubClassOf 'cheilitis'
http://purl.obolibrary.org/obo/MONDO_0043303
hyperacusis
'hyperacusis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C116366
'hyperacusis' SubClassOf 'disease of ear'
http://purl.obolibrary.org/obo/MESH_D012001 EquivalentTo 'hyperacusis'
http://purl.obolibrary.org/obo/GARD_0009655 EquivalentTo 'hyperacusis'
'hyperacusis' SubClassOf 'auditory perceptual disorders'
'hyperacusis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_25289003
http://purl.obolibrary.org/obo/MONDO_0043330
mirizzi syndrome
'mirizzi syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_4283007
'mirizzi syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001860
http://purl.obolibrary.org/obo/GARD_0010177 EquivalentTo 'mirizzi syndrome'
http://purl.obolibrary.org/obo/MESH_D057792 EquivalentTo 'mirizzi syndrome'
'mirizzi syndrome' SubClassOf 'extrahepatic cholestasis'
http://purl.obolibrary.org/obo/MONDO_0043339
lathyrism
'lathyrism' EquivalentTo http://purl.obolibrary.org/obo/SCTID_5724005
'lathyrism' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001776
http://purl.obolibrary.org/obo/GARD_0010441 EquivalentTo 'lathyrism'
'lathyrism' SubClassOf 'poisoning'
http://purl.obolibrary.org/obo/MESH_D007842 EquivalentTo 'lathyrism'
http://purl.obolibrary.org/obo/GARD_0000804
http://purl.obolibrary.org/obo/GARD_0000804 EquivalentTo 'Alagille syndrome'
http://purl.obolibrary.org/obo/GARD_0000802
http://purl.obolibrary.org/obo/GARD_0000802 EquivalentTo 'atrioventricular septal defect'
http://purl.obolibrary.org/obo/GARD_0000806
http://purl.obolibrary.org/obo/GARD_0000806 EquivalentTo 'spastic paraplegia-facial-cutaneous lesions syndrome'
http://purl.obolibrary.org/obo/MONDO_0043343
chilaiditi syndrome
'chilaiditi syndrome' SubClassOf 'colonic disease'
'chilaiditi syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_14911005
http://purl.obolibrary.org/obo/MESH_D059269 EquivalentTo 'chilaiditi syndrome'
http://purl.obolibrary.org/obo/GARD_0010685 EquivalentTo 'chilaiditi syndrome'
http://purl.obolibrary.org/obo/MONDO_0043346
progressive transformation of germinal centers
'progressive transformation of germinal centers' SubClassOf 'lymphoma'
'progressive transformation of germinal centers' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C38408
http://purl.obolibrary.org/obo/MESH_C548085 EquivalentTo 'progressive transformation of germinal centers'
http://purl.obolibrary.org/obo/GARD_0010712 EquivalentTo 'progressive transformation of germinal centers'
http://purl.obolibrary.org/obo/MESH_C566721
http://purl.obolibrary.org/obo/MESH_C566721 EquivalentTo 'reticular dystrophy of retinal pigment epithelium'
http://purl.obolibrary.org/obo/MONDO_0043349
intravascular papillary endothelial hyperplasia
'intravascular papillary endothelial hyperplasia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C4391
'intravascular papillary endothelial hyperplasia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_238770007
http://purl.obolibrary.org/obo/GARD_0010733 EquivalentTo 'intravascular papillary endothelial hyperplasia'
'intravascular papillary endothelial hyperplasia' SubClassOf 'angiomatosis'
http://purl.obolibrary.org/obo/GARD_0000815
http://purl.obolibrary.org/obo/GARD_0000815 EquivalentTo 'pseudo-TORCH syndrome'
http://purl.obolibrary.org/obo/MESH_C566737
http://purl.obolibrary.org/obo/MESH_C566737 EquivalentTo 'congenital ptosis (disease)'
http://purl.obolibrary.org/obo/MONDO_0043310
amaurosis fugax
http://purl.obolibrary.org/obo/MESH_D020757 EquivalentTo 'amaurosis fugax'
http://purl.obolibrary.org/obo/GARD_0009660 EquivalentTo 'amaurosis fugax'
'amaurosis fugax' EquivalentTo http://purl.obolibrary.org/obo/SCTID_88032003
'amaurosis fugax' SubClassOf 'blindness (disorder)'
'amaurosis fugax' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84550
'amaurosis fugax' SubClassOf 'disease arises from feature' some 'retinal ischemia'
http://purl.obolibrary.org/obo/MONDO_0043314
aquarium granuloma
http://purl.obolibrary.org/obo/MESH_C535526 EquivalentTo 'aquarium granuloma'
'aquarium granuloma' EquivalentTo 'skin disease' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_1781)
'aquarium granuloma' SubClassOf 'realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_1781
http://purl.obolibrary.org/obo/GARD_0009712 EquivalentTo 'aquarium granuloma'
'aquarium granuloma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_240417004
'aquarium granuloma' SubClassOf 'skin disease caused by bacterial infection'
http://purl.obolibrary.org/obo/MONDO_0043317
amyopathic dermatomyositis
'amyopathic dermatomyositis' SubClassOf 'dermatomyositis'
http://purl.obolibrary.org/obo/GARD_0009907 EquivalentTo 'amyopathic dermatomyositis'
'amyopathic dermatomyositis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_238935002
http://purl.obolibrary.org/obo/MESH_C538250 EquivalentTo 'amyopathic dermatomyositis'
http://purl.obolibrary.org/obo/GARD_0000826
http://purl.obolibrary.org/obo/GARD_0000826 EquivalentTo 'frontometaphyseal dysplasia'
http://purl.obolibrary.org/obo/GARD_0000821
http://purl.obolibrary.org/obo/GARD_0000821 EquivalentTo 'Bardet-Biedl syndrome 2'
http://purl.obolibrary.org/obo/MONDO_0043320
piriformis syndrome
'piriformis syndrome' SubClassOf 'nerve compression syndrome'
http://purl.obolibrary.org/obo/MESH_D055958 EquivalentTo 'piriformis syndrome'
'piriformis syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_129179000
'piriformis syndrome' SubClassOf 'syndromic disease'
'piriformis syndrome' SubClassOf 'sciatica'
http://purl.obolibrary.org/obo/GARD_0010026 EquivalentTo 'piriformis syndrome'
'piriformis syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C85012
'piriformis syndrome' SubClassOf 'disease HAS feature' some 'neuralgia'
http://purl.obolibrary.org/obo/GARD_0000820
http://purl.obolibrary.org/obo/GARD_0000820 EquivalentTo 'Bardet-Biedl syndrome 1'
http://purl.obolibrary.org/obo/MONDO_0043327
cerebrospinal fluid leak
http://purl.obolibrary.org/obo/MESH_D065634 EquivalentTo 'cerebrospinal fluid leak'
http://purl.obolibrary.org/obo/GARD_0010166 EquivalentTo 'cerebrospinal fluid leak'
'cerebrospinal fluid leak' SubClassOf 'disease or disorder'
'cerebrospinal fluid leak' EquivalentTo http://purl.obolibrary.org/obo/SCTID_230744007
'cerebrospinal fluid leak' SubClassOf 'disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0001359
http://purl.obolibrary.org/obo/MONDO_0043370
secondary adrenal insufficiency
'secondary adrenal insufficiency' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C62602
http://purl.obolibrary.org/obo/GARD_0012735 EquivalentTo 'secondary adrenal insufficiency'
'secondary adrenal insufficiency' SubClassOf 'adrenocortical insufficiency'
'secondary adrenal insufficiency' EquivalentTo http://purl.obolibrary.org/obo/SCTID_16685009
http://purl.obolibrary.org/obo/MONDO_0043377
juvenile spondyloarthropathy
'juvenile spondyloarthropathy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_239806000
http://purl.obolibrary.org/obo/GARD_0012939 EquivalentTo 'juvenile spondyloarthropathy'
'juvenile spondyloarthropathy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C114347
'juvenile spondyloarthropathy' SubClassOf 'ankylosing spondylitis'
http://purl.obolibrary.org/obo/MONDO_0043373
sudden sensorineural hearing loss
'sudden sensorineural hearing loss' SubClassOf 'hearing loss'
http://purl.obolibrary.org/obo/MESH_D003639 EquivalentTo 'sudden sensorineural hearing loss'
'sudden sensorineural hearing loss' EquivalentTo http://purl.obolibrary.org/obo/SCTID_715239002
http://purl.obolibrary.org/obo/GARD_0012927 EquivalentTo 'sudden sensorineural hearing loss'
'sudden sensorineural hearing loss' EquivalentTo http://purl.obolibrary.org/obo/SCTID_79471008
http://purl.obolibrary.org/obo/MONDO_0043355
collagenous gastritis
'collagenous gastritis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C122082
'collagenous gastritis' SubClassOf 'gastritis (disease)'
'collagenous gastritis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_711499009
http://purl.obolibrary.org/obo/GARD_0010961 EquivalentTo 'collagenous gastritis'
http://purl.obolibrary.org/obo/SCTID_716999001
'Joubert syndrome with renal defect' EquivalentTo http://purl.obolibrary.org/obo/SCTID_716999001
http://purl.obolibrary.org/obo/MONDO_0043352
fournier gangrene
'fournier gangrene' SubClassOf 'male reproductive system disease'
http://purl.obolibrary.org/obo/MESH_D018934 EquivalentTo 'fournier gangrene'
'fournier gangrene' SubClassOf 'bacterial infectious disease'
http://purl.obolibrary.org/obo/GARD_0010912 EquivalentTo 'fournier gangrene'
'fournier gangrene' EquivalentTo http://purl.obolibrary.org/obo/SCTID_398318005
http://purl.obolibrary.org/obo/MONDO_0043358
engraftment syndrome
'engraftment syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_426768001
'engraftment syndrome' SubClassOf 'syndromic disease'
http://purl.obolibrary.org/obo/GARD_0011909 EquivalentTo 'engraftment syndrome'
'engraftment syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C63324
http://purl.obolibrary.org/obo/MONDO_0043361
May-Thurner syndrome
http://purl.obolibrary.org/obo/GARD_0012141 EquivalentTo 'May-Thurner syndrome'
'May-Thurner syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_448804008
'May-Thurner syndrome' SubClassOf 'peripheral vascular disease'
http://purl.obolibrary.org/obo/MESH_D062108 EquivalentTo 'May-Thurner syndrome'
http://purl.obolibrary.org/obo/MONDO_0043364
eosinophil peroxidase deficiency
http://purl.obolibrary.org/obo/MESH_C564893 EquivalentTo 'eosinophil peroxidase deficiency'
'eosinophil peroxidase deficiency' SubClassOf 'leukocyte disease'
http://purl.obolibrary.org/obo/GARD_0012361 EquivalentTo 'eosinophil peroxidase deficiency'
'eosinophil peroxidase deficiency' EquivalentTo http://purl.obolibrary.org/obo/SCTID_711160007
'eosinophil peroxidase deficiency' SubClassOf 'autosomal recessive disease'
http://purl.obolibrary.org/obo/SCTID_271532008
'Echovirus infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_271532008
http://purl.obolibrary.org/obo/GARD_0000873
http://purl.obolibrary.org/obo/GARD_0000873 EquivalentTo 'Bethlem myopathy'
http://purl.obolibrary.org/obo/GARD_0000872
http://purl.obolibrary.org/obo/GARD_0000872 EquivalentTo 'beta-ketothiolase deficiency'
http://purl.obolibrary.org/obo/GARD_0000871
http://purl.obolibrary.org/obo/GARD_0000871 EquivalentTo 'beta thalassemia'
http://purl.obolibrary.org/obo/GARD_0009218
http://purl.obolibrary.org/obo/GARD_0009218 EquivalentTo 'aurocephalosyndactyly'
http://purl.obolibrary.org/obo/GARD_0009217
http://purl.obolibrary.org/obo/GARD_0009217 EquivalentTo 'lymphedema-cerebral arteriovenous anomaly syndrome'
http://purl.obolibrary.org/obo/GARD_0009212
http://purl.obolibrary.org/obo/GARD_0009212 EquivalentTo 'phocomelia, Schinzel type'
http://purl.obolibrary.org/obo/GARD_0000884
http://purl.obolibrary.org/obo/GARD_0000884 EquivalentTo 'bifid nose'
http://purl.obolibrary.org/obo/GARD_0009229
http://purl.obolibrary.org/obo/GARD_0009229 EquivalentTo 'bile duct cysts'
http://purl.obolibrary.org/obo/GARD_0009228
http://purl.obolibrary.org/obo/GARD_0009228 EquivalentTo 'renal agenesis (disease)'
http://purl.obolibrary.org/obo/GARD_0009226
http://purl.obolibrary.org/obo/GARD_0009226 EquivalentTo 'metabolic syndrome X'
http://purl.obolibrary.org/obo/GARD_0010200
http://purl.obolibrary.org/obo/GARD_0010200 EquivalentTo 'OPA6'
http://purl.obolibrary.org/obo/GARD_0009220
http://purl.obolibrary.org/obo/GARD_0009220 EquivalentTo 'Astley-Kendall dysplasia'
http://purl.obolibrary.org/obo/GARD_0010202
http://purl.obolibrary.org/obo/GARD_0010202 EquivalentTo '2q37 microdeletion syndrome'
http://purl.obolibrary.org/obo/GARD_0010201
http://purl.obolibrary.org/obo/GARD_0010201 EquivalentTo 'OPA5'
http://purl.obolibrary.org/obo/GARD_0000895
http://purl.obolibrary.org/obo/GARD_0000895 EquivalentTo 'bird headed-dwarfism, Montreal type'
http://purl.obolibrary.org/obo/GARD_0000894
http://purl.obolibrary.org/obo/GARD_0000894 EquivalentTo 'biotinidase deficiency'
http://purl.obolibrary.org/obo/GARD_0000893
http://purl.obolibrary.org/obo/GARD_0000893 EquivalentTo 'fallot complex-intellectual disability-growth delay syndrome'
http://purl.obolibrary.org/obo/GARD_0000897
http://purl.obolibrary.org/obo/GARD_0000897 EquivalentTo 'hypertelorism, microtia, facial clefting syndrome'
http://purl.obolibrary.org/obo/GARD_0009239
http://purl.obolibrary.org/obo/GARD_0009239 EquivalentTo 'amyotrophic lateral sclerosis-parkinsonism-dementia complex'
http://purl.obolibrary.org/obo/GARD_0009232
http://purl.obolibrary.org/obo/GARD_0009232 EquivalentTo 'Chiari malformation type II'
http://purl.obolibrary.org/obo/GARD_0010214
http://purl.obolibrary.org/obo/GARD_0010214 EquivalentTo 'neonatal intrahepatic cholestasis due to citrin deficiency'
http://purl.obolibrary.org/obo/GARD_0010216
http://purl.obolibrary.org/obo/GARD_0010216 EquivalentTo 'NDE1-related microhydranencephaly'
http://purl.obolibrary.org/obo/GARD_0010222
http://purl.obolibrary.org/obo/GARD_0010222 EquivalentTo 'cataract, ataxia, short stature, and mental retardation'
http://purl.obolibrary.org/obo/GARD_0009242
http://purl.obolibrary.org/obo/GARD_0009242 EquivalentTo 'advanced sleep phase syndrome'
http://purl.obolibrary.org/obo/GARD_0010226
http://purl.obolibrary.org/obo/GARD_0010226 EquivalentTo 'COG1-CDG'
http://purl.obolibrary.org/obo/GARD_0010228
http://purl.obolibrary.org/obo/GARD_0010228 EquivalentTo 'cataract 11 multiple types'
http://purl.obolibrary.org/obo/GARD_0010227
http://purl.obolibrary.org/obo/GARD_0010227 EquivalentTo 'cataract 31 multiple types'
http://purl.obolibrary.org/obo/GARD_0000838
http://purl.obolibrary.org/obo/GARD_0000838 EquivalentTo 'Bazex-DuprC)-Christol syndrome'
http://purl.obolibrary.org/obo/GARD_0000836
http://purl.obolibrary.org/obo/GARD_0000836 EquivalentTo 'epilepsy-microcephaly-skeletal dysplasia syndrome'
http://purl.obolibrary.org/obo/GARD_0000835
http://purl.obolibrary.org/obo/GARD_0000835 EquivalentTo 'congenital muscular dystrophy-infantile cataract-hypogonadism syndrome'
http://purl.obolibrary.org/obo/GARD_0000830
http://purl.obolibrary.org/obo/GARD_0000830 EquivalentTo 'Bartter disease type 1'
http://purl.obolibrary.org/obo/GARD_0000848
http://purl.obolibrary.org/obo/GARD_0000848 EquivalentTo 'Behcet disease'
http://purl.obolibrary.org/obo/GARD_0000842
http://purl.obolibrary.org/obo/GARD_0000842 EquivalentTo 'diffuse idiopathic skeletal hyperostosis'
http://www.orpha.net/ORDO/Orphanet_118053
'protein S deficiency' EquivalentTo http://www.orpha.net/ORDO/Orphanet_118053
http://purl.obolibrary.org/obo/GARD_0000857
http://purl.obolibrary.org/obo/GARD_0000857 EquivalentTo 'benign familial infantile epilepsy'
http://purl.obolibrary.org/obo/GARD_0000852
http://purl.obolibrary.org/obo/GARD_0000852 EquivalentTo 'corpus callosum agenesis-double urinary collecting system syndrome'
http://purl.obolibrary.org/obo/GARD_0000856
http://purl.obolibrary.org/obo/GARD_0000856 EquivalentTo 'benign familial neonatal-infantile seizures 1'
http://purl.obolibrary.org/obo/GARD_0000869
http://purl.obolibrary.org/obo/GARD_0000869 EquivalentTo 'beta-mannosidosis'
http://purl.obolibrary.org/obo/GARD_0000863
http://purl.obolibrary.org/obo/GARD_0000863 EquivalentTo 'IGAN1'
http://purl.obolibrary.org/obo/GARD_0000860
http://purl.obolibrary.org/obo/GARD_0000860 EquivalentTo 'cryptorchidism-arachnodactyly-intellectual disability syndrome'
http://purl.obolibrary.org/obo/GARD_0000867
http://purl.obolibrary.org/obo/GARD_0000867 EquivalentTo 'chronic beryllium disease'
http://purl.obolibrary.org/obo/GARD_0009208
http://purl.obolibrary.org/obo/GARD_0009208 EquivalentTo 'Charcot-Marie-tooth disease type 5'
http://purl.obolibrary.org/obo/GARD_0009207
http://purl.obolibrary.org/obo/GARD_0009207 EquivalentTo 'Charcot-Marie-tooth disease dominant intermediate d'
http://purl.obolibrary.org/obo/GARD_0009206
http://purl.obolibrary.org/obo/GARD_0009206 EquivalentTo 'Charcot-Marie-tooth disease dominant intermediate f'
http://purl.obolibrary.org/obo/GARD_0000870
http://purl.obolibrary.org/obo/GARD_0000870 EquivalentTo 'qualitative or quantitative defects of beta-sarcoglycan'
http://purl.obolibrary.org/obo/GARD_0009204
http://purl.obolibrary.org/obo/GARD_0009204 EquivalentTo 'Charcot-Marie-tooth disease type 3'
http://purl.obolibrary.org/obo/GARD_0009203
http://purl.obolibrary.org/obo/GARD_0009203 EquivalentTo 'Charcot-Marie-tooth disease type 4E'
http://purl.obolibrary.org/obo/GARD_0009170
http://purl.obolibrary.org/obo/GARD_0009170 EquivalentTo 'hypotrichosis simplex'
http://purl.obolibrary.org/obo/GARD_0009178
http://purl.obolibrary.org/obo/GARD_0009178 EquivalentTo 'MEHMO syndrome'
http://purl.obolibrary.org/obo/GARD_0009176
http://purl.obolibrary.org/obo/GARD_0009176 EquivalentTo 'pyogenic arthritis-pyoderma gangrenosum-acne syndrome'
http://purl.obolibrary.org/obo/GARD_0009175
http://purl.obolibrary.org/obo/GARD_0009175 EquivalentTo 'parkinsonian-pyramidal syndrome'
http://purl.obolibrary.org/obo/GARD_0009174
http://purl.obolibrary.org/obo/GARD_0009174 EquivalentTo 'Kufor-Rakeb syndrome'
http://purl.obolibrary.org/obo/GARD_0009172
http://purl.obolibrary.org/obo/GARD_0009172 EquivalentTo 'palmoplantar keratoderma i, striate, focal, or diffuse'
http://purl.obolibrary.org/obo/GARD_0009181
http://purl.obolibrary.org/obo/GARD_0009181 EquivalentTo 'familial abdominal aortic aneurysm'
http://purl.obolibrary.org/obo/GARD_0009180
http://purl.obolibrary.org/obo/GARD_0009180 EquivalentTo 'idiopathic membranous glomerulonephritis'
http://purl.obolibrary.org/obo/SCTID_75372006
'inherited mitral valve disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_75372006
http://purl.obolibrary.org/obo/GARD_0010166
http://purl.obolibrary.org/obo/GARD_0010166 EquivalentTo 'cerebrospinal fluid leak'
http://purl.obolibrary.org/obo/GARD_0009185
http://purl.obolibrary.org/obo/GARD_0009185 EquivalentTo 'immunodeficiency 27A'
http://purl.obolibrary.org/obo/GARD_0009184
http://purl.obolibrary.org/obo/GARD_0009184 EquivalentTo 'progressive pseudorheumatoid arthropathy of childhood'
http://purl.obolibrary.org/obo/GARD_0009190
http://purl.obolibrary.org/obo/GARD_0009190 EquivalentTo 'Charcot-Marie-tooth disease type 1E'
http://purl.obolibrary.org/obo/GARD_0010184
http://purl.obolibrary.org/obo/GARD_0010184 EquivalentTo 'hereditary cryohydrocytosis with normal stomatin'
http://purl.obolibrary.org/obo/GARD_0010177
http://purl.obolibrary.org/obo/GARD_0010177 EquivalentTo 'mirizzi syndrome'
http://purl.obolibrary.org/obo/GARD_0010179
http://purl.obolibrary.org/obo/GARD_0010179 EquivalentTo 'Brooke-Spiegler syndrome'
http://purl.obolibrary.org/obo/GARD_0009196
http://purl.obolibrary.org/obo/GARD_0009196 EquivalentTo 'Charcot-Marie-tooth disease axonal type 2H'
http://purl.obolibrary.org/obo/GARD_0010193
http://purl.obolibrary.org/obo/GARD_0010193 EquivalentTo 'subcutaneous panniculitis-like T-cell lymphoma'
http://purl.obolibrary.org/obo/GARD_0010195
http://purl.obolibrary.org/obo/GARD_0010195 EquivalentTo 'PSMNSB'
http://purl.obolibrary.org/obo/GARD_0010188
http://purl.obolibrary.org/obo/GARD_0010188 EquivalentTo 'angioma serpiginosum, X-linked'
http://purl.obolibrary.org/obo/SCTID_4283007
'mirizzi syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_4283007
http://purl.obolibrary.org/obo/GARD_0010120
http://purl.obolibrary.org/obo/GARD_0010120 EquivalentTo 'VMD1'
http://purl.obolibrary.org/obo/GARD_0000794
http://purl.obolibrary.org/obo/GARD_0000794 EquivalentTo 'arthrogryposis-renal dysfunction-cholestasis syndrome'
http://purl.obolibrary.org/obo/GARD_0009138
http://purl.obolibrary.org/obo/GARD_0009138 EquivalentTo 'congenital muscular dystrophy'
http://purl.obolibrary.org/obo/GARD_0009130
http://purl.obolibrary.org/obo/GARD_0009130 EquivalentTo 'multiminicore myopathy'
http://purl.obolibrary.org/obo/GARD_0010116
http://purl.obolibrary.org/obo/GARD_0010116 EquivalentTo 'autosomal recessive congenital ichthyosis 11'
http://purl.obolibrary.org/obo/GARD_0010130
http://purl.obolibrary.org/obo/GARD_0010130 EquivalentTo 'monosomy 22q13'
http://purl.obolibrary.org/obo/GARD_0010132
http://purl.obolibrary.org/obo/GARD_0010132 EquivalentTo 'Charcot-Marie-tooth disease type 4G'
http://purl.obolibrary.org/obo/GARD_0010131
http://purl.obolibrary.org/obo/GARD_0010131 EquivalentTo 'hereditary motor and sensory neuropathy, Okinawa type'
http://purl.obolibrary.org/obo/GARD_0009149
http://purl.obolibrary.org/obo/GARD_0009149 EquivalentTo 'retinitis pigmentosa 1'
http://purl.obolibrary.org/obo/GARD_0009148
http://purl.obolibrary.org/obo/GARD_0009148 EquivalentTo 'Pelger-Huet anomaly'
http://purl.obolibrary.org/obo/GARD_0009147
http://purl.obolibrary.org/obo/GARD_0009147 EquivalentTo 'lipoid nephrosis'
http://purl.obolibrary.org/obo/GARD_0009146
http://purl.obolibrary.org/obo/GARD_0009146 EquivalentTo 'cardiofaciocutaneous syndrome'
http://purl.obolibrary.org/obo/GARD_0010127
http://purl.obolibrary.org/obo/GARD_0010127 EquivalentTo 'hypogonadotropic hypogonadism 23 with or without anosmia'
http://purl.obolibrary.org/obo/GARD_0010129
http://purl.obolibrary.org/obo/GARD_0010129 EquivalentTo 'isolated thyroid-stimulating hormone deficiency'
http://purl.obolibrary.org/obo/GARD_0010128
http://purl.obolibrary.org/obo/GARD_0010128 EquivalentTo 'hypogonadotropic hypogonadism 24 without anosmia'
http://purl.obolibrary.org/obo/SCTID_235049008
'lichen planus, oral' EquivalentTo http://purl.obolibrary.org/obo/SCTID_235049008
http://purl.obolibrary.org/obo/GARD_0010142
http://purl.obolibrary.org/obo/GARD_0010142 EquivalentTo 'osteogenesis imperfecta type 2'
http://purl.obolibrary.org/obo/GARD_0009157
http://purl.obolibrary.org/obo/GARD_0009157 EquivalentTo 'syndromic X-linked intellectual disability Abidi type'
http://purl.obolibrary.org/obo/GARD_0009156
http://purl.obolibrary.org/obo/GARD_0009156 EquivalentTo 'syndromic X-linked intellectual disability 7'
http://purl.obolibrary.org/obo/GARD_0010133
http://purl.obolibrary.org/obo/GARD_0010133 EquivalentTo 'autosomal recessive distal spinal muscular atrophy 2'
http://purl.obolibrary.org/obo/GARD_0009152
http://purl.obolibrary.org/obo/GARD_0009152 EquivalentTo 'congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency'
http://purl.obolibrary.org/obo/GARD_0010138
http://purl.obolibrary.org/obo/GARD_0010138 EquivalentTo 'torsion dystonia 4'
http://purl.obolibrary.org/obo/GARD_0009151
http://purl.obolibrary.org/obo/GARD_0009151 EquivalentTo '3-methylcrotonyl-CoA carboxylase 2 deficiency'
http://purl.obolibrary.org/obo/GARD_0010152
http://purl.obolibrary.org/obo/GARD_0010152 EquivalentTo 'osteogenesis imperfecta type 8'
http://purl.obolibrary.org/obo/GARD_0010151
http://purl.obolibrary.org/obo/GARD_0010151 EquivalentTo 'Aicardi-Goutieres syndrome 5'
http://purl.obolibrary.org/obo/GARD_0009169
http://purl.obolibrary.org/obo/GARD_0009169 EquivalentTo 'ADan amyloidosis'
http://purl.obolibrary.org/obo/GARD_0009168
http://purl.obolibrary.org/obo/GARD_0009168 EquivalentTo 'familial expansile osteolysis'
http://purl.obolibrary.org/obo/GARD_0009167
http://purl.obolibrary.org/obo/GARD_0009167 EquivalentTo 'autosomal dominant nonsyndromic deafness 22'
http://purl.obolibrary.org/obo/GARD_0010145
http://purl.obolibrary.org/obo/GARD_0010145 EquivalentTo 'Potocki-Lupski syndrome'
http://purl.obolibrary.org/obo/GARD_0009166
http://purl.obolibrary.org/obo/GARD_0009166 EquivalentTo 'autosomal dominant nonsyndromic deafness 24'
http://purl.obolibrary.org/obo/GARD_0009165
http://purl.obolibrary.org/obo/GARD_0009165 EquivalentTo 'RMD1'
http://purl.obolibrary.org/obo/GARD_0010147
http://purl.obolibrary.org/obo/GARD_0010147 EquivalentTo 'branchio-oto-renal syndrome'
http://purl.obolibrary.org/obo/GARD_0010148
http://purl.obolibrary.org/obo/GARD_0010148 EquivalentTo 'branchiootic syndrome'
http://purl.obolibrary.org/obo/GARD_0009161
http://purl.obolibrary.org/obo/GARD_0009161 EquivalentTo 'alpha-N-acetylgalactosaminidase deficiency type 2'
http://purl.obolibrary.org/obo/SCTID_707272006
'dyskeratosis congenita, autosomal recessive 1' EquivalentTo http://purl.obolibrary.org/obo/SCTID_707272006
http://purl.obolibrary.org/obo/NCIT_C27039
'hemophilic arthropathy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C27039
http://purl.obolibrary.org/obo/NCIT_C27049
'congenital ptosis (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C27049
http://purl.obolibrary.org/obo/SCTID_61738006
'collagenous sprue' EquivalentTo http://purl.obolibrary.org/obo/SCTID_61738006
http://purl.obolibrary.org/obo/NCIT_C27044
'Loeffler endocarditis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C27044
http://purl.obolibrary.org/obo/GARD_0010199
http://purl.obolibrary.org/obo/GARD_0010199 EquivalentTo 'early-onset X-linked optic atrophy'
http://www.ebi.ac.uk/efo/EFO_0002501
'anaplastic oligodendroglioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0002501
http://www.ebi.ac.uk/efo/EFO_0002500
'anaplastic oligoastrocytoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0002500
http://linkedlifedata.com/resource/umls/id/C1868139
http://linkedlifedata.com/resource/umls/id/C1868139 EquivalentTo 'autosomal dominant medullary cystic kidney disease with or without hyperuricemia'
http://www.orpha.net/ORDO/Orphanet_206979
'idiopathic granulomatous myositis' EquivalentTo http://www.orpha.net/ORDO/Orphanet_206979
http://purl.obolibrary.org/obo/MONDO_0043219
migraine with brainstem aura
'migraine with brainstem aura' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C117013
'migraine with brainstem aura' SubClassOf 'arterial disorder'
'migraine with brainstem aura' EquivalentTo 'migraine with aura' and ('disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0001633)
http://purl.obolibrary.org/obo/GARD_0005896 EquivalentTo 'migraine with brainstem aura'
'migraine with brainstem aura' SubClassOf 'head disease'
'migraine with brainstem aura' EquivalentTo http://purl.obolibrary.org/obo/SCTID_83351003
'migraine with brainstem aura' SubClassOf 'disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0001633
'migraine with brainstem aura' SubClassOf 'migraine with aura'
http://purl.obolibrary.org/obo/MONDO_0043218
neurovascular disease
'neurovascular disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C117007
'neurovascular disease' EquivalentTo 'nervous system disease' and ('disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0002049)
'neurovascular disease' SubClassOf 'vascular disease'
'neurovascular disease' SubClassOf 'nervous system disease'
http://purl.obolibrary.org/obo/SCTID_95532008
'duodenal obstruction' EquivalentTo http://purl.obolibrary.org/obo/SCTID_95532008
http://purl.obolibrary.org/obo/MONDO_0043224
multi-infarct dementia
'multi-infarct dementia' SubClassOf 'vascular dementia'
'multi-infarct dementia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_56267009
'multi-infarct dementia' SubClassOf 'cerebral infarction'
http://purl.obolibrary.org/obo/GARD_0005925 EquivalentTo 'multi-infarct dementia'
'multi-infarct dementia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34522
http://purl.obolibrary.org/obo/MESH_D015161 EquivalentTo 'multi-infarct dementia'
http://purl.obolibrary.org/obo/MONDO_0043226
postpartum amenorrhea-galactorrhea syndrome
http://purl.obolibrary.org/obo/GARD_0006037 EquivalentTo 'postpartum amenorrhea-galactorrhea syndrome'
'postpartum amenorrhea-galactorrhea syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_85039006
'postpartum amenorrhea-galactorrhea syndrome' SubClassOf 'familial hyperprolactinemia'
'postpartum amenorrhea-galactorrhea syndrome' SubClassOf 'rare disorder related with pregnancy, childbirth and puerperium'
http://purl.obolibrary.org/obo/MESH_D002640 EquivalentTo 'postpartum amenorrhea-galactorrhea syndrome'
'postpartum amenorrhea-galactorrhea syndrome' SubClassOf 'puerperal disorder'
'postpartum amenorrhea-galactorrhea syndrome' SubClassOf 'breast disease'
'postpartum amenorrhea-galactorrhea syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001291
'postpartum amenorrhea-galactorrhea syndrome' SubClassOf 'galactorrhea (disease)'
http://purl.obolibrary.org/obo/GARD_0000701
http://purl.obolibrary.org/obo/GARD_0000701 EquivalentTo 'tooth ankylosis'
http://purl.obolibrary.org/obo/MONDO_0043209
albinism
http://purl.obolibrary.org/obo/ICD10_E70.3 EquivalentTo 'albinism'
http://purl.obolibrary.org/obo/MESH_D000417 EquivalentTo 'albinism'
http://purl.obolibrary.org/obo/GARD_0005768 EquivalentTo 'albinism'
'albinism' EquivalentTo http://purl.obolibrary.org/obo/SCTID_15890002
'albinism' SubClassOf 'inherited amino acid metabolic disorder'
'albinism' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84543
http://purl.obolibrary.org/obo/MONDO_0043207
urethral obstruction sequence
'urethral obstruction sequence' SubClassOf 'fetal lower urinary tract obstruction'
'urethral obstruction sequence' SubClassOf 'urethral obstruction (disease)'
'urethral obstruction sequence' EquivalentTo http://purl.obolibrary.org/obo/SCTID_18241005
http://purl.obolibrary.org/obo/GARD_0005428 EquivalentTo 'urethral obstruction sequence'
http://purl.obolibrary.org/obo/MESH_C536477 EquivalentTo 'urethral obstruction sequence'
http://purl.obolibrary.org/obo/MONDO_0043206
trichostasis spinulosa
'trichostasis spinulosa' EquivalentTo http://purl.obolibrary.org/obo/SCTID_21049007
http://purl.obolibrary.org/obo/GARD_0005269 EquivalentTo 'trichostasis spinulosa'
http://purl.obolibrary.org/obo/MESH_C536558 EquivalentTo 'trichostasis spinulosa'
'trichostasis spinulosa' SubClassOf 'keratosis'
'trichostasis spinulosa' SubClassOf 'disease of pilosebaceous unit'
http://purl.obolibrary.org/obo/MONDO_0043257
pemphigus and fogo selvagem
'pemphigus and fogo selvagem' SubClassOf 'pemphigus'
'pemphigus and fogo selvagem' SubClassOf 'pemphigus foliaceus'
'pemphigus and fogo selvagem' EquivalentTo http://purl.obolibrary.org/obo/SCTID_46459009
http://purl.obolibrary.org/obo/GARD_0007353 EquivalentTo 'pemphigus and fogo selvagem'
http://purl.obolibrary.org/obo/MESH_C535551 EquivalentTo 'pemphigus and fogo selvagem'
http://purl.obolibrary.org/obo/MONDO_0043251
odontoma
'odontoma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3287
'odontoma' SubClassOf 'digestive system neoplasm'
'odontoma' SubClassOf 'disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0011595
'odontoma' SubClassOf 'mouth disease'
http://purl.obolibrary.org/obo/MESH_D009810 EquivalentTo 'odontoma'
'odontoma' SubClassOf 'hamartoma (disease)'
'odontoma' SubClassOf 'head and neck neoplasm'
http://purl.obolibrary.org/obo/GARD_0007247 EquivalentTo 'odontoma'
http://purl.obolibrary.org/obo/MONDO_0043254
papular urticaria
http://purl.obolibrary.org/obo/GARD_0007322 EquivalentTo 'papular urticaria'
'papular urticaria' SubClassOf 'urticaria (disease)'
http://purl.obolibrary.org/obo/MESH_C537169 EquivalentTo 'papular urticaria'
'papular urticaria' EquivalentTo http://purl.obolibrary.org/obo/SCTID_55608001
'papular urticaria' SubClassOf 'vesiculobullous skin disease'
http://purl.obolibrary.org/obo/MONDO_0043267
rheumatoid vasculitis
'rheumatoid vasculitis' SubClassOf 'rare bone disease'
'rheumatoid vasculitis' SubClassOf 'rare rheumatologic disease'
http://purl.obolibrary.org/obo/MESH_D056653 EquivalentTo 'rheumatoid vasculitis'
'rheumatoid vasculitis' SubClassOf 'rheumatoid arthritis'
'rheumatoid vasculitis' SubClassOf 'autoimmune vasculitis'
http://purl.obolibrary.org/obo/GARD_0007577 EquivalentTo 'rheumatoid vasculitis'
'rheumatoid vasculitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_400054000
http://purl.obolibrary.org/obo/MONDO_0043264
post-traumatic epilepsy
http://purl.obolibrary.org/obo/MESH_D004834 EquivalentTo 'post-traumatic epilepsy'
'post-traumatic epilepsy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_75023009
'post-traumatic epilepsy' SubClassOf 'epilepsy'
http://purl.obolibrary.org/obo/GARD_0007437 EquivalentTo 'post-traumatic epilepsy'
http://purl.obolibrary.org/obo/MESH_C566801
http://purl.obolibrary.org/obo/MESH_C566801 EquivalentTo 'pigmented paravenous retinochoroidal atrophy'
http://purl.obolibrary.org/obo/MONDO_0043233
exfoliative dermatitis
http://purl.obolibrary.org/obo/MESH_D003873 EquivalentTo 'exfoliative dermatitis'
http://purl.obolibrary.org/obo/GARD_0006393 EquivalentTo 'exfoliative dermatitis'
'exfoliative dermatitis' SubClassOf 'dermatitis'
http://www.ebi.ac.uk/efo/EFO_0002499
'anaplastic astrocytoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0002499
http://purl.obolibrary.org/obo/MONDO_0043230
ciguatera fish poisoning
'ciguatera fish poisoning' EquivalentTo http://purl.obolibrary.org/obo/SCTID_241774007
'ciguatera fish poisoning' SubClassOf 'poisoning'
http://purl.obolibrary.org/obo/MESH_D036841 EquivalentTo 'ciguatera fish poisoning'
http://purl.obolibrary.org/obo/GARD_0006113 EquivalentTo 'ciguatera fish poisoning'
http://purl.obolibrary.org/obo/MONDO_0043237
glossodynia
http://purl.obolibrary.org/obo/GARD_0006518 EquivalentTo 'glossodynia'
'glossodynia' SubClassOf 'tongue disease'
http://purl.obolibrary.org/obo/MESH_D005926 EquivalentTo 'glossodynia'
'glossodynia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_30731004
'glossodynia' SubClassOf 'disorder involving pain'
http://purl.obolibrary.org/obo/MONDO_0043247
Mallory-Weiss syndrome
'Mallory-Weiss syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_35265002
'Mallory-Weiss syndrome' SubClassOf 'hemorrhagic disease'
http://purl.obolibrary.org/obo/GARD_0006967 EquivalentTo 'Mallory-Weiss syndrome'
'Mallory-Weiss syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84881
'Mallory-Weiss syndrome' SubClassOf 'disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0007650
http://purl.obolibrary.org/obo/MESH_D008309 EquivalentTo 'Mallory-Weiss syndrome'
http://purl.obolibrary.org/obo/MONDO_0043240
hemophilic arthropathy
'hemophilic arthropathy' SubClassOf 'disease HAS feature' some 'hemophilia'
'hemophilic arthropathy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_80813006
'hemophilic arthropathy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C27039
http://purl.obolibrary.org/obo/GARD_0006592 EquivalentTo 'hemophilic arthropathy'
'hemophilic arthropathy' SubClassOf 'arthritis'
http://purl.obolibrary.org/obo/MONDO_0043243
leukoplakia
http://purl.obolibrary.org/obo/MESH_D007971 EquivalentTo 'leukoplakia'
'leukoplakia' SubClassOf 'precancerous condition'
'leukoplakia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3186
'leukoplakia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_274134003
'leukoplakia' SubClassOf 'disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0000344
'leukoplakia' SubClassOf 'disease affecting anatomical system'
http://purl.obolibrary.org/obo/GARD_0006897 EquivalentTo 'leukoplakia'
http://purl.obolibrary.org/obo/SCTID_52772002
'postpartum thyroiditis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_52772002
http://purl.obolibrary.org/obo/MONDO_0043291
rokitansky-aschoff sinuses of the gallbladder
'rokitansky-aschoff sinuses of the gallbladder' SubClassOf 'rare biliary tract disease'
'rokitansky-aschoff sinuses of the gallbladder' SubClassOf 'biliary tract cancer'
'rokitansky-aschoff sinuses of the gallbladder' SubClassOf 'gall bladder carcinoma in situ'
'rokitansky-aschoff sinuses of the gallbladder' EquivalentTo http://purl.obolibrary.org/obo/SCTID_22149007
'rokitansky-aschoff sinuses of the gallbladder' SubClassOf 'liver carcinoma in situ'
http://purl.obolibrary.org/obo/GARD_0009419 EquivalentTo 'rokitansky-aschoff sinuses of the gallbladder'
http://purl.obolibrary.org/obo/MESH_C535869 EquivalentTo 'rokitansky-aschoff sinuses of the gallbladder'
http://purl.obolibrary.org/obo/MONDO_0043294
linear scleroderma
http://purl.obolibrary.org/obo/GARD_0009513 EquivalentTo 'linear scleroderma'
'linear scleroderma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_22784002
'linear scleroderma' SubClassOf 'localized scleroderma'
'linear scleroderma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C116780
http://purl.obolibrary.org/obo/GARD_0000753
http://purl.obolibrary.org/obo/GARD_0000753 EquivalentTo 'aplasia cutis congenita-intestinal lymphangiectasia syndrome'
http://purl.obolibrary.org/obo/MONDO_0043297
vibrio vulnificus infectious disease
'vibrio vulnificus infectious disease' SubClassOf 'realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_672
'vibrio vulnificus infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_402965002
'vibrio vulnificus infectious disease' EquivalentTo 'disease or disorder' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_672)
http://purl.obolibrary.org/obo/MESH_C536348 EquivalentTo 'vibrio vulnificus infectious disease'
http://purl.obolibrary.org/obo/GARD_0009584 EquivalentTo 'vibrio vulnificus infectious disease'
'vibrio vulnificus infectious disease' SubClassOf 'vibrio infectious disease'
http://purl.obolibrary.org/obo/GARD_0000764
http://purl.obolibrary.org/obo/GARD_0000764 EquivalentTo 'arachnodactyly-intellectual disability-dysmorphism syndrome'
http://purl.obolibrary.org/obo/GARD_0000774
http://purl.obolibrary.org/obo/GARD_0000774 EquivalentTo 'arterial tortuosity syndrome'
http://purl.obolibrary.org/obo/MONDO_0043277
mosaic trisomy 6
'mosaic trisomy 6' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C36475
'mosaic trisomy 6' EquivalentTo http://purl.obolibrary.org/obo/SCTID_205647005
http://purl.obolibrary.org/obo/GARD_0007815 EquivalentTo 'mosaic trisomy 6'
'mosaic trisomy 6' SubClassOf 'autosomal trisomy'
http://purl.obolibrary.org/obo/GARD_0000777
http://purl.obolibrary.org/obo/GARD_0000777 EquivalentTo 'arthrogryposis multiplex congenita'
http://purl.obolibrary.org/obo/MONDO_0043275
TORCH syndrome
http://purl.obolibrary.org/obo/GARD_0007781 EquivalentTo 'TORCH syndrome'
'TORCH syndrome' SubClassOf 'post-infectious syndrome'
'TORCH syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C98609
'TORCH syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_41679006
http://purl.obolibrary.org/obo/GARD_0009119
http://purl.obolibrary.org/obo/GARD_0009119 EquivalentTo 'pulmonary agenesis'
http://purl.obolibrary.org/obo/MONDO_0043280
Wallerian degeneration
http://purl.obolibrary.org/obo/MESH_D014855 EquivalentTo 'Wallerian degeneration'
'Wallerian degeneration' SubClassOf 'nervous system disease'
'Wallerian degeneration' SubClassOf 'disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0006134
'Wallerian degeneration' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C85223
'Wallerian degeneration' SubClassOf 'degenerative disorder'
http://purl.obolibrary.org/obo/GARD_0007875 EquivalentTo 'Wallerian degeneration'
http://purl.obolibrary.org/obo/MONDO_0043283
silicosiderosis
'silicosiderosis' SubClassOf 'silicosis'
'silicosiderosis' SubClassOf 'realized in response to stimulus' some http://purl.obolibrary.org/obo/CHEBI_50818
http://purl.obolibrary.org/obo/MESH_C537337 EquivalentTo 'silicosiderosis'
'silicosiderosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001855
'silicosiderosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_34004002
'silicosiderosis' EquivalentTo 'pneumoconiosis' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/CHEBI_50818)
http://purl.obolibrary.org/obo/GARD_0008372 EquivalentTo 'silicosiderosis'
http://purl.obolibrary.org/obo/GARD_0000784
http://purl.obolibrary.org/obo/GARD_0000784 EquivalentTo 'arthrogryposis-like hand anomaly-sensorineural deafness syndrome'
http://purl.obolibrary.org/obo/MONDO_0043287
superior vena cava syndrome
'superior vena cava syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3396
'superior vena cava syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_63363004
http://purl.obolibrary.org/obo/MESH_D013479 EquivalentTo 'superior vena cava syndrome'
'superior vena cava syndrome' SubClassOf 'vascular disease'
http://purl.obolibrary.org/obo/GARD_0009264 EquivalentTo 'superior vena cava syndrome'
'superior vena cava syndrome' SubClassOf 'syndromic disease'
http://purl.obolibrary.org/obo/GARD_0010109
http://purl.obolibrary.org/obo/GARD_0010109 EquivalentTo 'Cornelia de Lange syndrome'
http://purl.obolibrary.org/obo/GARD_0010108
http://purl.obolibrary.org/obo/GARD_0010108 EquivalentTo 'congenital myasthenic syndrome 4C'
http://purl.obolibrary.org/obo/GARD_0009129
http://purl.obolibrary.org/obo/GARD_0009129 EquivalentTo 'antenatal multiminicore disease with arthrogryposis multiplex congenita'
http://purl.obolibrary.org/obo/GARD_0009128
http://purl.obolibrary.org/obo/GARD_0009128 EquivalentTo 'idiopathic inflammatory myopathy'
http://purl.obolibrary.org/obo/GARD_0000792
http://purl.obolibrary.org/obo/GARD_0000792 EquivalentTo 'arthrogryposis multiplex congenita-whistling face syndrome'
http://purl.obolibrary.org/obo/GARD_0009126
http://purl.obolibrary.org/obo/GARD_0009126 EquivalentTo 'agnathia-otocephaly complex'
http://purl.obolibrary.org/obo/GARD_0000790
http://purl.obolibrary.org/obo/GARD_0000790 EquivalentTo 'neurogenic arthrogryposis multiplex congenita'
http://purl.obolibrary.org/obo/GARD_0009124
http://purl.obolibrary.org/obo/GARD_0009124 EquivalentTo 'Treacher-Collins syndrome'
http://purl.obolibrary.org/obo/GARD_0010101
http://purl.obolibrary.org/obo/GARD_0010101 EquivalentTo 'spondyloepimetaphyseal dysplasia-hypotrichosis syndrome'
http://purl.obolibrary.org/obo/GARD_0010100
http://purl.obolibrary.org/obo/GARD_0010100 EquivalentTo 'Tietze syndrome'
http://purl.obolibrary.org/obo/GARD_0000713
http://purl.obolibrary.org/obo/GARD_0000713 EquivalentTo 'Matthew-wood syndrome'
http://purl.obolibrary.org/obo/GARD_0000710
http://purl.obolibrary.org/obo/GARD_0000710 EquivalentTo 'nonsyndromic congenital nail disorder 6'
http://purl.obolibrary.org/obo/GARD_0000722
http://purl.obolibrary.org/obo/GARD_0000722 EquivalentTo 'microphthalmia with limb anomalies'
http://purl.obolibrary.org/obo/GARD_0000739
http://purl.obolibrary.org/obo/GARD_0000739 EquivalentTo 'aortic arch anomaly-facial dysmorphism-intellectual disability syndrome'
http://purl.obolibrary.org/obo/GARD_0000738
http://purl.obolibrary.org/obo/GARD_0000738 EquivalentTo 'congenital aortopulmonary window'
http://purl.obolibrary.org/obo/GARD_0000731
http://purl.obolibrary.org/obo/GARD_0000731 EquivalentTo 'alpha-2-plasmin inhibitor deficiency'
http://purl.obolibrary.org/obo/GARD_0000743
http://purl.obolibrary.org/obo/GARD_0000743 EquivalentTo 'supravalvular aortic stenosis (disease)'
http://purl.obolibrary.org/obo/SCTID_2177002
'postherpetic neuralgia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_2177002
http://purl.obolibrary.org/obo/GARD_0010040
http://purl.obolibrary.org/obo/GARD_0010040 EquivalentTo 'nose, anomalous shape of'
http://purl.obolibrary.org/obo/GARD_0010035
http://purl.obolibrary.org/obo/GARD_0010035 EquivalentTo 'prosopagnosia, hereditary'
http://purl.obolibrary.org/obo/GARD_0010034
http://purl.obolibrary.org/obo/GARD_0010034 EquivalentTo 'congenital trigeminal anesthesia'
http://purl.obolibrary.org/obo/GARD_0010036
http://purl.obolibrary.org/obo/GARD_0010036 EquivalentTo 'Achoo syndrome'
http://purl.obolibrary.org/obo/GARD_0010039
http://purl.obolibrary.org/obo/GARD_0010039 EquivalentTo 'encephalopathy due to hydroxykynureninuria'
http://purl.obolibrary.org/obo/GARD_0010051
http://purl.obolibrary.org/obo/GARD_0010051 EquivalentTo 'limb-mammary syndrome'
http://purl.obolibrary.org/obo/SCTID_32599008
'wild type ABeta2M amyloidosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_32599008
http://purl.obolibrary.org/obo/GARD_0010045
http://purl.obolibrary.org/obo/GARD_0010045 EquivalentTo 'congenital bile acid synthesis defect 2'
http://purl.obolibrary.org/obo/GARD_0010047
http://purl.obolibrary.org/obo/GARD_0010047 EquivalentTo 'inherited glutathione synthetase deficiency'
http://purl.obolibrary.org/obo/GARD_0010049
http://purl.obolibrary.org/obo/GARD_0010049 EquivalentTo 'central areolar choroidal dystrophy'
http://purl.obolibrary.org/obo/GARD_0010061
http://purl.obolibrary.org/obo/GARD_0010061 EquivalentTo 'talo-patello-scaphoid osteolysis'
http://purl.obolibrary.org/obo/GARD_0010057
http://purl.obolibrary.org/obo/GARD_0010057 EquivalentTo 'spondyloepimetaphyseal dysplasia, GeneviC(ve type'
http://purl.obolibrary.org/obo/GARD_0010056
http://purl.obolibrary.org/obo/GARD_0010056 EquivalentTo 'mandibulofacial dysostosis-microcephaly syndrome'
http://purl.obolibrary.org/obo/NCIT_C114347
'juvenile spondyloarthropathy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C114347
http://purl.obolibrary.org/obo/GARD_0010071
http://purl.obolibrary.org/obo/GARD_0010071 EquivalentTo 'pulmonic stenosis (disease)'
http://purl.obolibrary.org/obo/GARD_0010070
http://purl.obolibrary.org/obo/GARD_0010070 EquivalentTo 'subependymoma'
http://purl.obolibrary.org/obo/GARD_0010072
http://purl.obolibrary.org/obo/GARD_0010072 EquivalentTo 'diaphyseal medullary stenosis-bone malignancy syndrome'
http://purl.obolibrary.org/obo/GARD_0010069
http://purl.obolibrary.org/obo/GARD_0010069 EquivalentTo 'dens 1N dente and palatal invaginations'
http://purl.obolibrary.org/obo/GARD_0010000
http://purl.obolibrary.org/obo/GARD_0010000 EquivalentTo 'spinocerebellar ataxia type 1 with axonal neuropathy'
http://purl.obolibrary.org/obo/GARD_0000676
http://purl.obolibrary.org/obo/GARD_0000676 EquivalentTo 'hereditary neurocutaneous malformation'
http://purl.obolibrary.org/obo/GARD_0000673
http://purl.obolibrary.org/obo/GARD_0000673 EquivalentTo 'Castleman disease'
http://purl.obolibrary.org/obo/MESH_C566594
http://purl.obolibrary.org/obo/MESH_C566594 EquivalentTo 'FRDA2'
http://purl.obolibrary.org/obo/GARD_0010011
http://purl.obolibrary.org/obo/GARD_0010011 EquivalentTo 'agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome'
http://purl.obolibrary.org/obo/GARD_0000689
http://purl.obolibrary.org/obo/GARD_0000689 EquivalentTo 'aniridia-ptosis-intellectual disability-familial obesity syndrome'
http://purl.obolibrary.org/obo/GARD_0000690
http://purl.obolibrary.org/obo/GARD_0000690 EquivalentTo 'aniridia-renal agenesis-psychomotor retardation syndrome'
http://purl.obolibrary.org/obo/GARD_0010009
http://purl.obolibrary.org/obo/GARD_0010009 EquivalentTo 'opsoclonus-myoclonus syndrome'
http://purl.obolibrary.org/obo/GARD_0010002
http://purl.obolibrary.org/obo/GARD_0010002 EquivalentTo 'chromosome 8Q12.1-q21.2 deletion syndrome'
http://purl.obolibrary.org/obo/GARD_0010001
http://purl.obolibrary.org/obo/GARD_0010001 EquivalentTo 'congenital secretory chloride diarrhea 1'
http://purl.obolibrary.org/obo/GARD_0010003
http://purl.obolibrary.org/obo/GARD_0010003 EquivalentTo 'autosomal recessive frontotemporal pachygyria'
http://purl.obolibrary.org/obo/GARD_0010007
http://purl.obolibrary.org/obo/GARD_0010007 EquivalentTo 'AGMX2'
http://purl.obolibrary.org/obo/GARD_0000696
http://purl.obolibrary.org/obo/GARD_0000696 EquivalentTo 'ankyloblepharon filiforme adnatum-cleft palate syndrome'
http://purl.obolibrary.org/obo/GARD_0010016
http://purl.obolibrary.org/obo/GARD_0010016 EquivalentTo 'priapism, familial idiopathic'
http://purl.obolibrary.org/obo/GARD_0010033
http://purl.obolibrary.org/obo/GARD_0010033 EquivalentTo 'ANIB2'
http://purl.obolibrary.org/obo/GARD_0010023
http://purl.obolibrary.org/obo/GARD_0010023 EquivalentTo 'Bruck syndrome 2'
http://purl.obolibrary.org/obo/GARD_0010026
http://purl.obolibrary.org/obo/GARD_0010026 EquivalentTo 'piriformis syndrome'
http://purl.obolibrary.org/obo/GARD_0010027
http://purl.obolibrary.org/obo/GARD_0010027 EquivalentTo 'campomelic dysplasia'
http://purl.obolibrary.org/obo/MESH_C566551
http://purl.obolibrary.org/obo/MESH_C566551 EquivalentTo 'GLC1D'
http://purl.obolibrary.org/obo/NCIT_C27148
'ureteral disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C27148
http://www.ebi.ac.uk/efo/EFO_0002856
'spindle cell hemangioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0002856
http://www.ebi.ac.uk/efo/EFO_0002849
'ring chromosome 11' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0002849
http://purl.obolibrary.org/obo/GARD_0010082
http://purl.obolibrary.org/obo/GARD_0010082 EquivalentTo 'infantile osteopetrosis with neuroaxonal dysplasia'
http://purl.obolibrary.org/obo/GARD_0010085
http://purl.obolibrary.org/obo/GARD_0010085 EquivalentTo 'Klebsiella infectious disease'
http://purl.obolibrary.org/obo/GARD_0010087
http://purl.obolibrary.org/obo/GARD_0010087 EquivalentTo 'arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies'
http://purl.obolibrary.org/obo/MESH_C566512
http://purl.obolibrary.org/obo/MESH_C566512 EquivalentTo 'cardiomyopathy, familial restrictive, 2'
http://purl.obolibrary.org/obo/NCIT_C66776
'polyembryoma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C66776
http://purl.obolibrary.org/obo/GARD_0010092
http://purl.obolibrary.org/obo/GARD_0010092 EquivalentTo 'hemochromatosis type 2'
http://purl.obolibrary.org/obo/GARD_0010095
http://purl.obolibrary.org/obo/GARD_0010095 EquivalentTo 'migraine, familial hemiplegic, 2'
http://purl.obolibrary.org/obo/GARD_0010096
http://purl.obolibrary.org/obo/GARD_0010096 EquivalentTo 'hereditary leiomyomatosis and renal cell cancer'
http://purl.obolibrary.org/obo/GARD_0010099
http://purl.obolibrary.org/obo/GARD_0010099 EquivalentTo 'gamma-glutamyl transpeptidase deficiency'
http://purl.obolibrary.org/obo/NCIT_C27174
'Gaisbock syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C27174
http://purl.obolibrary.org/obo/GARD_0010091
http://purl.obolibrary.org/obo/GARD_0010091 EquivalentTo 'Sotos syndrome'
http://purl.obolibrary.org/obo/MESH_C566533
http://purl.obolibrary.org/obo/MESH_C566533 EquivalentTo 'colobomatous macrophthalmia-microcornea syndrome'
http://purl.obolibrary.org/obo/NCIT_C114389
'postpartum thyroiditis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C114389
http://purl.obolibrary.org/obo/MONDO_0043101
hypothalamic dysfunction
http://purl.obolibrary.org/obo/GARD_0002932 EquivalentTo 'hypothalamic dysfunction'
'hypothalamic dysfunction' EquivalentTo http://purl.obolibrary.org/obo/SCTID_111568001
'hypothalamic dysfunction' SubClassOf 'hypothalamic disease'
http://purl.obolibrary.org/obo/MONDO_0043103
hypothyroidism due to iodide transport defect
'hypothyroidism due to iodide transport defect' EquivalentTo http://purl.obolibrary.org/obo/SCTID_22558005
'hypothyroidism due to iodide transport defect' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C121747
http://purl.obolibrary.org/obo/GARD_0002938 EquivalentTo 'hypothyroidism due to iodide transport defect'
'hypothyroidism due to iodide transport defect' SubClassOf 'congenital hypothyroidism'
http://purl.obolibrary.org/obo/MONDO_0043106
ichthyosis linearis circumflexa
'ichthyosis linearis circumflexa' SubClassOf 'autosomal recessive disease'
'ichthyosis linearis circumflexa' SubClassOf 'inherited ichthyosis'
http://purl.obolibrary.org/obo/GARD_0002967 EquivalentTo 'ichthyosis linearis circumflexa'
'ichthyosis linearis circumflexa' EquivalentTo http://purl.obolibrary.org/obo/SCTID_54336006
http://purl.obolibrary.org/obo/MONDO_0043108
infantile striato thalamic degeneration
http://purl.obolibrary.org/obo/GARD_0003004 EquivalentTo 'infantile striato thalamic degeneration'
'infantile striato thalamic degeneration' SubClassOf 'syndromic disease'
'infantile striato thalamic degeneration' EquivalentTo http://www.orpha.net/ORDO/Orphanet_1575
http://purl.obolibrary.org/obo/SCTID_707355002
'sphenoid sinus squamous cell carcinoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_707355002
http://purl.obolibrary.org/obo/MESH_C566506
http://purl.obolibrary.org/obo/MESH_C566506 EquivalentTo 'short QT syndrome type 1'
http://purl.obolibrary.org/obo/MESH_C566505
http://purl.obolibrary.org/obo/MESH_C566505 EquivalentTo 'short QT syndrome type 2'
http://purl.obolibrary.org/obo/MESH_C566504
http://purl.obolibrary.org/obo/MESH_C566504 EquivalentTo 'short QT syndrome type 3'
http://purl.obolibrary.org/obo/MONDO_0043135
microcephaly microphthalmos blindness
'microcephaly microphthalmos blindness' SubClassOf 'blindness (disorder)'
'microcephaly microphthalmos blindness' SubClassOf 'microphthalmia'
http://purl.obolibrary.org/obo/MESH_C537541 EquivalentTo 'microcephaly microphthalmos blindness'
http://purl.obolibrary.org/obo/GARD_0003629 EquivalentTo 'microcephaly microphthalmos blindness'
http://purl.obolibrary.org/obo/MONDO_0043137
isolated microcephaly
'isolated microcephaly' EquivalentTo 'disease or disorder' and ('has modifier' some 'has an isolated presentation') and ('disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0000033) and ('disease HAS feature' some http://purl.obolibrary.org/obo/HP_0000252)
http://purl.obolibrary.org/obo/MESH_C537542 EquivalentTo 'isolated microcephaly'
'isolated microcephaly' SubClassOf 'head disease'
http://purl.obolibrary.org/obo/GARD_0003630 EquivalentTo 'isolated microcephaly'
'isolated microcephaly' SubClassOf 'disease HAS feature' some http://purl.obolibrary.org/obo/HP_0000252
'isolated microcephaly' SubClassOf 'has modifier' some 'has an isolated presentation'
http://purl.obolibrary.org/obo/MONDO_0043131
michels caskey syndrome
http://purl.obolibrary.org/obo/MESH_C537576 EquivalentTo 'michels caskey syndrome'
'michels caskey syndrome' SubClassOf '46,XX disorder of sex development'
http://purl.obolibrary.org/obo/GARD_0003590 EquivalentTo 'michels caskey syndrome'
http://purl.obolibrary.org/obo/MONDO_0043133
microcephaly micropenis convulsions
'microcephaly micropenis convulsions' SubClassOf 'visual epilepsy'
http://purl.obolibrary.org/obo/GARD_0003628 EquivalentTo 'microcephaly micropenis convulsions'
http://purl.obolibrary.org/obo/MESH_C537540 EquivalentTo 'microcephaly micropenis convulsions'
http://purl.obolibrary.org/obo/MONDO_0043139
microcephaly sparse hair mental retardation seizures
http://purl.obolibrary.org/obo/GARD_0003633 EquivalentTo 'microcephaly sparse hair mental retardation seizures'
'microcephaly sparse hair mental retardation seizures' SubClassOf 'rare genetic intellectual disability'
'microcephaly sparse hair mental retardation seizures' SubClassOf 'inherited reflex epilepsy'
http://purl.obolibrary.org/obo/MESH_C537545 EquivalentTo 'microcephaly sparse hair mental retardation seizures'
'microcephaly sparse hair mental retardation seizures' SubClassOf 'genetic alopecia'
'microcephaly sparse hair mental retardation seizures' SubClassOf 'visual epilepsy'
http://purl.obolibrary.org/obo/NCIT_C27207
'vestibulocochlear nerve disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C27207
http://purl.obolibrary.org/obo/SCTID_86252004
'pulmonary artery agenesis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_86252004
http://purl.obolibrary.org/obo/MONDO_0043141
microdontia hypodontia short stature
http://purl.obolibrary.org/obo/MESH_C537553 EquivalentTo 'microdontia hypodontia short stature'
http://purl.obolibrary.org/obo/GARD_0003638 EquivalentTo 'microdontia hypodontia short stature'
'microdontia hypodontia short stature' SubClassOf 'genetic endocrine growth disease'
'microdontia hypodontia short stature' SubClassOf 'anodontia'
http://purl.obolibrary.org/obo/MONDO_0043143
microphthalmia microtia fetal akinesia
http://purl.obolibrary.org/obo/GARD_0003650 EquivalentTo 'microphthalmia microtia fetal akinesia'
http://purl.obolibrary.org/obo/MESH_C536513 EquivalentTo 'microphthalmia microtia fetal akinesia'
'microphthalmia microtia fetal akinesia' SubClassOf 'microphthalmia'
http://purl.obolibrary.org/obo/MONDO_0043112
lachiewicz sibley syndrome
http://purl.obolibrary.org/obo/GARD_0003157 EquivalentTo 'lachiewicz sibley syndrome'
http://purl.obolibrary.org/obo/MESH_C538131 EquivalentTo 'lachiewicz sibley syndrome'
'lachiewicz sibley syndrome' SubClassOf 'kidney disease'
http://purl.obolibrary.org/obo/MONDO_0043114
Landy-Donnai syndrome
http://purl.obolibrary.org/obo/GARD_0003172 EquivalentTo 'Landy-Donnai syndrome'
http://purl.obolibrary.org/obo/MESH_C537266 EquivalentTo 'Landy-Donnai syndrome'
'Landy-Donnai syndrome' SubClassOf 'syndromic disease'
http://purl.obolibrary.org/obo/MONDO_0043110
jones hersh yusk syndrome
'jones hersh yusk syndrome' SubClassOf 'ectodermal dysplasia syndrome'
http://purl.obolibrary.org/obo/MESH_C535885 EquivalentTo 'jones hersh yusk syndrome'
http://purl.obolibrary.org/obo/GARD_0003055 EquivalentTo 'jones hersh yusk syndrome'
http://purl.obolibrary.org/obo/MONDO_0043116
iida kannari syndrome
http://purl.obolibrary.org/obo/GARD_0003249 EquivalentTo 'iida kannari syndrome'
'iida kannari syndrome' SubClassOf 'scoliosis'
'iida kannari syndrome' SubClassOf 'contracture'
'iida kannari syndrome' SubClassOf 'craniosynostosis'
http://purl.obolibrary.org/obo/MESH_C536284 EquivalentTo 'iida kannari syndrome'
'iida kannari syndrome' SubClassOf 'cleft palate'
http://purl.obolibrary.org/obo/NCIT_C27235
'gastric non-hodgkin lymphoma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C27235
http://purl.obolibrary.org/obo/MONDO_0043123
massa casaer ceulemans syndrome
http://purl.obolibrary.org/obo/MESH_C536031 EquivalentTo 'massa casaer ceulemans syndrome'
'massa casaer ceulemans syndrome' SubClassOf 'arthrogryposis'
http://purl.obolibrary.org/obo/GARD_0003407 EquivalentTo 'massa casaer ceulemans syndrome'
'massa casaer ceulemans syndrome' SubClassOf 'lissencephaly (disease)'
http://purl.obolibrary.org/obo/MONDO_0043125
mcpherson robertson cammarano syndrome
http://purl.obolibrary.org/obo/MESH_C538161 EquivalentTo 'mcpherson robertson cammarano syndrome'
'mcpherson robertson cammarano syndrome' SubClassOf 'ptosis (disease)'
http://purl.obolibrary.org/obo/GARD_0003431 EquivalentTo 'mcpherson robertson cammarano syndrome'
http://purl.obolibrary.org/obo/MONDO_0043120
male pseudohermaphroditism due to defective lh molecule
http://purl.obolibrary.org/obo/MESH_C535692 EquivalentTo 'male pseudohermaphroditism due to defective lh molecule'
'male pseudohermaphroditism due to defective lh molecule' SubClassOf '46,XY disorder of sex development'
http://purl.obolibrary.org/obo/GARD_0003356 EquivalentTo 'male pseudohermaphroditism due to defective lh molecule'
http://purl.obolibrary.org/obo/MONDO_0043127
mehta lewis patton syndrome
http://purl.obolibrary.org/obo/GARD_0003450 EquivalentTo 'mehta lewis patton syndrome'
'mehta lewis patton syndrome' SubClassOf 'anodontia'
'mehta lewis patton syndrome' SubClassOf 'ptosis (disease)'
'mehta lewis patton syndrome' SubClassOf 'rare genetic cardiac disease'
'mehta lewis patton syndrome' SubClassOf 'rare genetic eye disease'
http://purl.obolibrary.org/obo/MESH_C536147 EquivalentTo 'mehta lewis patton syndrome'
'mehta lewis patton syndrome' SubClassOf 'congenital heart disease'
'mehta lewis patton syndrome' SubClassOf 'craniosynostosis'
http://purl.obolibrary.org/obo/MONDO_0043129
merlob grunebaum reisner syndrome
'merlob grunebaum reisner syndrome' SubClassOf 'syndromic disease'
http://purl.obolibrary.org/obo/GARD_0003545 EquivalentTo 'merlob grunebaum reisner syndrome'
http://purl.obolibrary.org/obo/MESH_C537461 EquivalentTo 'merlob grunebaum reisner syndrome'
http://purl.obolibrary.org/obo/MONDO_0043170
Pavone Fiumara Rizzo syndrome
http://purl.obolibrary.org/obo/MESH_C536313 EquivalentTo 'Pavone Fiumara Rizzo syndrome'
'Pavone Fiumara Rizzo syndrome' SubClassOf 'syndromic disease'
http://purl.obolibrary.org/obo/GARD_0004262 EquivalentTo 'Pavone Fiumara Rizzo syndrome'
http://purl.obolibrary.org/obo/MONDO_0043172
pfeiffer rockelein syndrome
'pfeiffer rockelein syndrome' SubClassOf 'syndromic disease'
http://purl.obolibrary.org/obo/GARD_0004306 EquivalentTo 'pfeiffer rockelein syndrome'
http://purl.obolibrary.org/obo/MESH_C537890 EquivalentTo 'pfeiffer rockelein syndrome'
http://purl.obolibrary.org/obo/MONDO_0043179
piepkorn karp hickok syndrome
http://purl.obolibrary.org/obo/GARD_0004345 EquivalentTo 'piepkorn karp hickok syndrome'
'piepkorn karp hickok syndrome' SubClassOf 'syndromic disease'
http://purl.obolibrary.org/obo/MESH_C535774 EquivalentTo 'piepkorn karp hickok syndrome'
http://purl.obolibrary.org/obo/GARD_0000635
http://purl.obolibrary.org/obo/GARD_0000635 EquivalentTo 'Leber congenital amaurosis 1'
http://purl.obolibrary.org/obo/MONDO_0043174
pfeiffer tietze welte syndrome
'pfeiffer tietze welte syndrome' SubClassOf 'syndromic intellectual disability'
http://purl.obolibrary.org/obo/MESH_C537891 EquivalentTo 'pfeiffer tietze welte syndrome'
http://purl.obolibrary.org/obo/GARD_0004308 EquivalentTo 'pfeiffer tietze welte syndrome'
http://purl.obolibrary.org/obo/GARD_0000634
http://purl.obolibrary.org/obo/GARD_0000634 EquivalentTo 'Leber congenital amaurosis'
http://purl.obolibrary.org/obo/MONDO_0043176
phosphoribosylpyrophosphate synthetase deficiency
'phosphoribosylpyrophosphate synthetase deficiency' SubClassOf 'inborn disorder of purine or pyrimidine metabolism'
http://purl.obolibrary.org/obo/GARD_0004337 EquivalentTo 'phosphoribosylpyrophosphate synthetase deficiency'
http://purl.obolibrary.org/obo/MESH_C537897 EquivalentTo 'phosphoribosylpyrophosphate synthetase deficiency'
http://purl.obolibrary.org/obo/MONDO_0043181
refsum disease with increased pipecolic acidemia
'refsum disease with increased pipecolic acidemia' SubClassOf 'adult Refsum disease'
http://purl.obolibrary.org/obo/MESH_C535517 EquivalentTo 'refsum disease with increased pipecolic acidemia'
http://purl.obolibrary.org/obo/GARD_0004371 EquivalentTo 'refsum disease with increased pipecolic acidemia'
http://purl.obolibrary.org/obo/MONDO_0043183
podder-tolmie syndrome
http://purl.obolibrary.org/obo/MESH_C537518 EquivalentTo 'podder-tolmie syndrome'
'podder-tolmie syndrome' SubClassOf 'syndromic disease'
http://purl.obolibrary.org/obo/GARD_0004387 EquivalentTo 'podder-tolmie syndrome'
http://purl.obolibrary.org/obo/GARD_0000646
http://purl.obolibrary.org/obo/GARD_0000646 EquivalentTo 'amelogenesis imperfecta type 1G'
http://purl.obolibrary.org/obo/MONDO_0043185
pointer syndrome
http://purl.obolibrary.org/obo/GARD_0004395 EquivalentTo 'pointer syndrome'
http://purl.obolibrary.org/obo/MESH_C536323 EquivalentTo 'pointer syndrome'
'pointer syndrome' SubClassOf 'syndromic disease'
http://purl.obolibrary.org/obo/MONDO_0043187
pulmonary artery agenesis
'pulmonary artery agenesis' SubClassOf 'arterial disorder'
http://purl.obolibrary.org/obo/GARD_0004585 EquivalentTo 'pulmonary artery agenesis'
'pulmonary artery agenesis' SubClassOf 'disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0002012
'pulmonary artery agenesis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_86252004
http://purl.obolibrary.org/obo/GARD_0000654
http://purl.obolibrary.org/obo/GARD_0000654 EquivalentTo 'encephalopathy due to beta-mercaptolactate-cysteine disulfiduria'
http://purl.obolibrary.org/obo/MONDO_0043156
nephrotic syndrome ocular anomalies
http://purl.obolibrary.org/obo/MESH_C536403 EquivalentTo 'nephrotic syndrome ocular anomalies'
http://purl.obolibrary.org/obo/GARD_0003945 EquivalentTo 'nephrotic syndrome ocular anomalies'
'nephrotic syndrome ocular anomalies' SubClassOf 'nephrotic syndrome'
http://purl.obolibrary.org/obo/GARD_0000652
http://purl.obolibrary.org/obo/GARD_0000652 EquivalentTo 'amebic dysentery'
http://purl.obolibrary.org/obo/MONDO_0043152
negative rheumatoid factor polyarthritis
http://purl.obolibrary.org/obo/GARD_0003931 EquivalentTo 'negative rheumatoid factor polyarthritis'
http://purl.obolibrary.org/obo/MESH_C538347 EquivalentTo 'negative rheumatoid factor polyarthritis'
'negative rheumatoid factor polyarthritis' SubClassOf 'arthritis'
http://purl.obolibrary.org/obo/GARD_0000656
http://purl.obolibrary.org/obo/GARD_0000656 EquivalentTo 'familial amyloid neuropathy'
http://purl.obolibrary.org/obo/MONDO_0043154
neonatal ovarian cyst
'neonatal ovarian cyst' SubClassOf 'ovarian cyst (disease)'
http://purl.obolibrary.org/obo/GARD_0003934 EquivalentTo 'neonatal ovarian cyst'
http://purl.obolibrary.org/obo/MESH_C536396 EquivalentTo 'neonatal ovarian cyst'
http://purl.obolibrary.org/obo/MONDO_0043162
pagon stephan syndrome
'pagon stephan syndrome' SubClassOf 'septooptic dysplasia'
http://purl.obolibrary.org/obo/GARD_0004195 EquivalentTo 'pagon stephan syndrome'
http://purl.obolibrary.org/obo/MESH_C538100 EquivalentTo 'pagon stephan syndrome'
http://purl.obolibrary.org/obo/SCTID_19824006
'skin infection' EquivalentTo http://purl.obolibrary.org/obo/SCTID_19824006
http://purl.obolibrary.org/obo/MONDO_0043168
panostotic fibrous dysplasia
'panostotic fibrous dysplasia' SubClassOf 'rare genetic developmental defect during embryogenesis'
http://purl.obolibrary.org/obo/GARD_0004213 EquivalentTo 'panostotic fibrous dysplasia'
http://purl.obolibrary.org/obo/MESH_C537164 EquivalentTo 'panostotic fibrous dysplasia'
'panostotic fibrous dysplasia' SubClassOf 'fibrous dysplasia of bone'
'panostotic fibrous dysplasia' SubClassOf 'primary myelofibrosis'
http://purl.obolibrary.org/obo/GARD_0000664
http://purl.obolibrary.org/obo/GARD_0000664 EquivalentTo 'thyroid gland undifferentiated (anaplastic) carcinoma'
http://purl.obolibrary.org/obo/MONDO_0043164
palmer pagon syndrome
http://purl.obolibrary.org/obo/GARD_0004199 EquivalentTo 'palmer pagon syndrome'
'palmer pagon syndrome' SubClassOf 'hydrocephalus'
http://purl.obolibrary.org/obo/MESH_C538107 EquivalentTo 'palmer pagon syndrome'
http://purl.obolibrary.org/obo/GARD_0000668
http://purl.obolibrary.org/obo/GARD_0000668 EquivalentTo 'X-linked sideroblastic anemia with ataxia'
http://purl.obolibrary.org/obo/MONDO_0043166
pancreatic lipomatosis duodenal stenosis
http://purl.obolibrary.org/obo/GARD_0004208 EquivalentTo 'pancreatic lipomatosis duodenal stenosis'
'pancreatic lipomatosis duodenal stenosis' SubClassOf 'pancreas disease'
http://purl.obolibrary.org/obo/MESH_C535839 EquivalentTo 'pancreatic lipomatosis duodenal stenosis'
'pancreatic lipomatosis duodenal stenosis' SubClassOf 'lipomatosis'
'pancreatic lipomatosis duodenal stenosis' SubClassOf 'duodenal obstruction'
http://purl.obolibrary.org/obo/GARD_0000671
http://purl.obolibrary.org/obo/GARD_0000671 EquivalentTo 'Angel-shaped phalango-epiphyseal dysplasia'
http://purl.obolibrary.org/obo/SCTID_55608001
'papular urticaria' EquivalentTo http://purl.obolibrary.org/obo/SCTID_55608001
http://purl.obolibrary.org/obo/UBERON_0000970
http://purl.obolibrary.org/obo/GARD_0000607
http://purl.obolibrary.org/obo/GARD_0000607 EquivalentTo 'alopecia-epilepsy-pyorrhea-intellectual disability syndrome'
http://purl.obolibrary.org/obo/GARD_0000606
http://purl.obolibrary.org/obo/GARD_0000606 EquivalentTo 'Moynahan syndrome'
http://purl.obolibrary.org/obo/GARD_0000600
http://purl.obolibrary.org/obo/GARD_0000600 EquivalentTo 'glycogen storage disease due to aldolase A deficiency'
http://purl.obolibrary.org/obo/MONDO_0043193
richieri-costa guion-almeida cohen syndrome
'richieri-costa guion-almeida cohen syndrome' SubClassOf 'syndromic disease'
http://purl.obolibrary.org/obo/GARD_0004712 EquivalentTo 'richieri-costa guion-almeida cohen syndrome'
http://purl.obolibrary.org/obo/MESH_C535676 EquivalentTo 'richieri-costa guion-almeida cohen syndrome'
http://purl.obolibrary.org/obo/GARD_0000617
http://purl.obolibrary.org/obo/GARD_0000617 EquivalentTo 'Oxoglutaricaciduria'
http://purl.obolibrary.org/obo/MONDO_0043195
rubinstein taybi like syndrome
'rubinstein taybi like syndrome' SubClassOf 'disease shares features of' some 'Rubinstein-Taybi syndrome'
http://purl.obolibrary.org/obo/GARD_0004745 EquivalentTo 'rubinstein taybi like syndrome'
http://purl.obolibrary.org/obo/MESH_C535877 EquivalentTo 'rubinstein taybi like syndrome'
'rubinstein taybi like syndrome' SubClassOf 'syndromic disease'
http://purl.obolibrary.org/obo/MONDO_0043191
radial defect robin sequence
http://purl.obolibrary.org/obo/MESH_C536261 EquivalentTo 'radial defect robin sequence'
'radial defect robin sequence' SubClassOf 'isolated Pierre-Robin syndrome'
http://purl.obolibrary.org/obo/GARD_0004624 EquivalentTo 'radial defect robin sequence'
http://purl.obolibrary.org/obo/GARD_0000614
http://purl.obolibrary.org/obo/GARD_0000614 EquivalentTo 'alopecia universalis'
http://purl.obolibrary.org/obo/MONDO_0043197
ruvalcaba churesigaew myhre syndrome
http://purl.obolibrary.org/obo/GARD_0004747 EquivalentTo 'ruvalcaba churesigaew myhre syndrome'
'ruvalcaba churesigaew myhre syndrome' SubClassOf 'syndromic disease'
http://purl.obolibrary.org/obo/MESH_C537190 EquivalentTo 'ruvalcaba churesigaew myhre syndrome'
http://purl.obolibrary.org/obo/GARD_0000612
http://purl.obolibrary.org/obo/GARD_0000612 EquivalentTo 'alopecia-intellectual disability syndrome'
http://purl.obolibrary.org/obo/MONDO_0043199
short limb dwarf lethal colavita kozlowski type
http://purl.obolibrary.org/obo/GARD_0004823 EquivalentTo 'short limb dwarf lethal colavita kozlowski type'
http://purl.obolibrary.org/obo/MESH_C537597 EquivalentTo 'short limb dwarf lethal colavita kozlowski type'
'short limb dwarf lethal colavita kozlowski type' SubClassOf 'syndromic disease'
http://purl.obolibrary.org/obo/GARD_0000621
http://purl.obolibrary.org/obo/GARD_0000621 EquivalentTo 'alpha thalassemia'
http://purl.obolibrary.org/obo/SCTID_254863004
'ovarian granulosa cell tumor' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254863004
http://www.orpha.net/ORDO/Orphanet_157855
'hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration' EquivalentTo http://www.orpha.net/ORDO/Orphanet_157855
http://purl.obolibrary.org/obo/GARD_0000599
http://purl.obolibrary.org/obo/GARD_0000599 EquivalentTo 'fetal alcohol spectrum disorders'
http://purl.obolibrary.org/obo/GARD_0000555
http://purl.obolibrary.org/obo/GARD_0000555 EquivalentTo 'X-linked adrenal hypoplasia congenita'
http://purl.obolibrary.org/obo/MESH_D007161
http://purl.obolibrary.org/obo/MESH_D007161 EquivalentTo 'alpha-heavy chain disease'
http://purl.obolibrary.org/obo/GARD_0000558
http://purl.obolibrary.org/obo/GARD_0000558 EquivalentTo 'adrenal cortex carcinoma'
http://purl.obolibrary.org/obo/GARD_0000562
http://purl.obolibrary.org/obo/GARD_0000562 EquivalentTo 'adrenomyodystrophy'
http://purl.obolibrary.org/obo/GARD_0000564
http://purl.obolibrary.org/obo/GARD_0000564 EquivalentTo 'adult spinal muscular atrophy'
http://purl.obolibrary.org/obo/GARD_0000575
http://purl.obolibrary.org/obo/GARD_0000575 EquivalentTo 'Aicardi-Goutieres syndrome'
http://purl.obolibrary.org/obo/MESH_D007184
http://purl.obolibrary.org/obo/MESH_D007184 EquivalentTo 'Bloch-Sulzberger syndrome'
http://purl.obolibrary.org/obo/GARD_0000578
http://purl.obolibrary.org/obo/GARD_0000578 EquivalentTo 'cutis verticis gyrata, thyroid aplasia, and mental retardation'
http://purl.obolibrary.org/obo/GARD_0000584
http://purl.obolibrary.org/obo/GARD_0000584 EquivalentTo 'Hirschsprung disease-nail hypoplasia-dysmorphism syndrome'
http://purl.obolibrary.org/obo/GARD_0000583
http://purl.obolibrary.org/obo/GARD_0000583 EquivalentTo 'short stature-webbed neck-heart disease syndrome'
http://purl.obolibrary.org/obo/GARD_0000588
http://purl.obolibrary.org/obo/GARD_0000588 EquivalentTo 'alar cartilages hypoplasia-coloboma-telecanthus syndrome'
http://purl.obolibrary.org/obo/GARD_0000592
http://purl.obolibrary.org/obo/GARD_0000592 EquivalentTo 'ocular albinism with late-onset sensorineural deafness'
http://purl.obolibrary.org/obo/SCTID_448709005
'gastric non-hodgkin lymphoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_448709005
http://purl.obolibrary.org/obo/MESH_C566644
http://purl.obolibrary.org/obo/MESH_C566644 EquivalentTo 'spondyloepimetaphyseal dysplasia-abnormal dentition syndrome'
http://www.ebi.ac.uk/efo/EFO_0002779
'Bjornstad syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0002779
http://purl.obolibrary.org/obo/MESH_C566621
http://purl.obolibrary.org/obo/MESH_C566621 EquivalentTo 'premature aging syndrome, Okamoto type'
http://purl.obolibrary.org/obo/SCTID_53226007
'flatfoot' EquivalentTo http://purl.obolibrary.org/obo/SCTID_53226007
http://purl.obolibrary.org/obo/GO_0051458
http://purl.obolibrary.org/obo/SCTID_231826004
'eyelid seborrheic keratosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_231826004
http://purl.obolibrary.org/obo/MONDO_0043003
familial acanthosis nigricans
'familial acanthosis nigricans' EquivalentTo 'acanthosis nigricans (disease)' and ('has modifier' some 'genetic and inherited')
'familial acanthosis nigricans' SubClassOf 'acanthosis nigricans (disease)'
'familial acanthosis nigricans' EquivalentTo http://purl.obolibrary.org/obo/OMIM_100600
http://purl.obolibrary.org/obo/MESH_C531598 EquivalentTo 'familial acanthosis nigricans'
'familial acanthosis nigricans' SubClassOf 'genetic skin disease'
http://purl.obolibrary.org/obo/MONDO_0043005
genetic multiple congenital anomalies/dysmorphic syndrome
'genetic multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'genetic multiple congenital anomalies/dysmorphic syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_183533
http://purl.obolibrary.org/obo/MONDO_0043004
Weil's disease
http://purl.obolibrary.org/obo/MESH_D014895 EquivalentTo 'Weil's disease'
'Weil's disease' EquivalentTo 'leptospirosis' and ('disease HAS feature' some http://purl.obolibrary.org/obo/HP_0000952)
'Weil's disease' SubClassOf 'disease HAS feature' some http://purl.obolibrary.org/obo/HP_0000952
'Weil's disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_398067003
'Weil's disease' SubClassOf 'leptospirosis'
http://purl.obolibrary.org/obo/MONDO_0043007
genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome'
'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_330197
http://purl.obolibrary.org/obo/MONDO_0043009
genetic lethal multiple congenital anomalies/dysmorphic syndrome
'genetic lethal multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome'
'genetic lethal multiple congenital anomalies/dysmorphic syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_471383
http://purl.obolibrary.org/obo/MONDO_0043008
genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome'
'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' EquivalentTo http://www.orpha.net/ORDO/Orphanet_330206
http://purl.obolibrary.org/obo/GARD_0000519
http://purl.obolibrary.org/obo/GARD_0000519 EquivalentTo 'idiopathic acute eosinophilic pneumonia'
http://purl.obolibrary.org/obo/GARD_0000518
http://purl.obolibrary.org/obo/GARD_0000518 EquivalentTo 'acute articular rheumatism'
http://purl.obolibrary.org/obo/GARD_0000517
http://purl.obolibrary.org/obo/GARD_0000517 EquivalentTo 'isotretinoin syndrome'
http://purl.obolibrary.org/obo/GARD_0000514
http://purl.obolibrary.org/obo/GARD_0000514 EquivalentTo 'acrorenal syndrome, autosomal recessive'
http://purl.obolibrary.org/obo/MONDO_0043069
zerres rietschel majewski syndrome
'zerres rietschel majewski syndrome' SubClassOf 'genetic endocrine growth disease'
http://purl.obolibrary.org/obo/MESH_C536724 EquivalentTo 'zerres rietschel majewski syndrome'
http://purl.obolibrary.org/obo/GARD_0000338 EquivalentTo 'zerres rietschel majewski syndrome'
'zerres rietschel majewski syndrome' SubClassOf 'rare genetic syndromic intellectual disability'
http://purl.obolibrary.org/obo/GARD_0000522
http://purl.obolibrary.org/obo/GARD_0000522 EquivalentTo 'acute lymphoblastic leukemia (disease)'
http://purl.obolibrary.org/obo/GARD_0000521
http://purl.obolibrary.org/obo/GARD_0000521 EquivalentTo 'sweet syndrome'
http://purl.obolibrary.org/obo/GARD_0000538
http://purl.obolibrary.org/obo/GARD_0000538 EquivalentTo 'acute promyelocytic leukemia'
http://purl.obolibrary.org/obo/GARD_0000540
http://purl.obolibrary.org/obo/GARD_0000540 EquivalentTo 'medium chain acyl-CoA dehydrogenase deficiency'
http://purl.obolibrary.org/obo/GARD_0000546
http://purl.obolibrary.org/obo/GARD_0000546 EquivalentTo 'adenine phosphoribosyltransferase deficiency'
http://purl.obolibrary.org/obo/GARD_0000550
http://purl.obolibrary.org/obo/GARD_0000550 EquivalentTo 'adenylosuccinate lyase deficiency'
http://purl.obolibrary.org/obo/MONDO_0043094
ichthyosis, follicular
http://purl.obolibrary.org/obo/GARD_0002355 EquivalentTo 'ichthyosis, follicular'
'ichthyosis, follicular' EquivalentTo http://purl.obolibrary.org/obo/SCTID_238627002
'ichthyosis, follicular' SubClassOf 'inherited ichthyosis'
http://purl.obolibrary.org/obo/MONDO_0043096
holoacardius amorphus
'holoacardius amorphus' EquivalentTo http://purl.obolibrary.org/obo/SCTID_41049003
'holoacardius amorphus' SubClassOf 'congenital acardia'
'holoacardius amorphus' EquivalentTo http://www.orpha.net/ORDO/Orphanet_2161
http://purl.obolibrary.org/obo/GARD_0002720 EquivalentTo 'holoacardius amorphus'
http://purl.obolibrary.org/obo/MONDO_0043099
hordnes engebretsen knudtson syndrome
http://purl.obolibrary.org/obo/GARD_0002736 EquivalentTo 'hordnes engebretsen knudtson syndrome'
'hordnes engebretsen knudtson syndrome' SubClassOf 'pulmonary valve stenosis'
http://purl.obolibrary.org/obo/MESH_C536067 EquivalentTo 'hordnes engebretsen knudtson syndrome'
'hordnes engebretsen knudtson syndrome' SubClassOf 'rare genetic cardiac disease'
'hordnes engebretsen knudtson syndrome' SubClassOf 'rare genetic intellectual disability'
'hordnes engebretsen knudtson syndrome' SubClassOf 'craniosynostosis'
http://linkedlifedata.com/resource/umls/id/C1291560
http://linkedlifedata.com/resource/umls/id/C1291560 EquivalentTo 'disorder of glutamate decarboxylase'
http://purl.obolibrary.org/obo/MONDO_0043071
zazam sheriff phillips syndrome
'zazam sheriff phillips syndrome' SubClassOf 'rare genetic syndromic intellectual disability'
http://purl.obolibrary.org/obo/GARD_0000339 EquivalentTo 'zazam sheriff phillips syndrome'
http://purl.obolibrary.org/obo/MESH_C536723 EquivalentTo 'zazam sheriff phillips syndrome'
'zazam sheriff phillips syndrome' SubClassOf 'syndromic aniridia'
http://purl.obolibrary.org/obo/MONDO_0043073
zadik barak levin syndrome
'zadik barak levin syndrome' SubClassOf 'anodontia'
'zadik barak levin syndrome' SubClassOf 'cleft palate'
http://purl.obolibrary.org/obo/GARD_0000340 EquivalentTo 'zadik barak levin syndrome'
'zadik barak levin syndrome' SubClassOf 'rare genetic developmental defect during embryogenesis'
'zadik barak levin syndrome' SubClassOf 'syndromic hypothyroidism'
'zadik barak levin syndrome' SubClassOf 'skull neoplasm'
'zadik barak levin syndrome' SubClassOf 'rare genetic bone disease'
'zadik barak levin syndrome' SubClassOf 'genetic otorhinolaryngologic disease'
'zadik barak levin syndrome' SubClassOf 'rare odontologic tumor'
'zadik barak levin syndrome' SubClassOf 'inherited digestive tract tumor'
'zadik barak levin syndrome' SubClassOf 'thyroid tumor'
'zadik barak levin syndrome' SubClassOf 'facial dermoid cyst'
'zadik barak levin syndrome' SubClassOf 'rare tumor of endocrine glands'
http://purl.obolibrary.org/obo/MESH_C536721 EquivalentTo 'zadik barak levin syndrome'
http://purl.obolibrary.org/obo/MONDO_0043079
acute articular rheumatism
'acute articular rheumatism' SubClassOf 'arthritis'
'acute articular rheumatism' EquivalentTo http://purl.obolibrary.org/obo/SCTID_81077008
http://purl.obolibrary.org/obo/GARD_0000518 EquivalentTo 'acute articular rheumatism'
http://purl.obolibrary.org/obo/MONDO_0043075
neuroaxonal dystrophy renal tubular acidosis
'neuroaxonal dystrophy renal tubular acidosis' SubClassOf 'renal tubular acidosis'
'neuroaxonal dystrophy renal tubular acidosis' SubClassOf 'neuroaxonal dystrophy'
'neuroaxonal dystrophy renal tubular acidosis' SubClassOf 'inherited neurodegenerative disorder'
http://purl.obolibrary.org/obo/MESH_C537386 EquivalentTo 'neuroaxonal dystrophy renal tubular acidosis'
http://purl.obolibrary.org/obo/GARD_0000349 EquivalentTo 'neuroaxonal dystrophy renal tubular acidosis'
http://purl.obolibrary.org/obo/MONDO_0043077
weinstein kliman scully syndrome
'weinstein kliman scully syndrome' SubClassOf 'inborn errors of metabolism'
'weinstein kliman scully syndrome' SubClassOf 'syndromic disease'
'weinstein kliman scully syndrome' SubClassOf 'hypogonadism'
http://purl.obolibrary.org/obo/GARD_0000392 EquivalentTo 'weinstein kliman scully syndrome'
http://purl.obolibrary.org/obo/MESH_C536688 EquivalentTo 'weinstein kliman scully syndrome'
http://purl.obolibrary.org/obo/MONDO_0043083
coronal synostosis, syndactyly and jejunal atresia
http://purl.obolibrary.org/obo/GARD_0001532 EquivalentTo 'coronal synostosis, syndactyly and jejunal atresia'
http://purl.obolibrary.org/obo/MESH_C536445 EquivalentTo 'coronal synostosis, syndactyly and jejunal atresia'
'coronal synostosis, syndactyly and jejunal atresia' SubClassOf 'synostosis'
http://purl.obolibrary.org/obo/GARD_0000506
http://purl.obolibrary.org/obo/GARD_0000506 EquivalentTo 'acromesomelic dysplasia, Hunter-Thompson type'
http://purl.obolibrary.org/obo/MONDO_0043085
chromosome 1, uniparental disomy 1q12 q21
http://purl.obolibrary.org/obo/MESH_C538085 EquivalentTo 'chromosome 1, uniparental disomy 1q12 q21'
'chromosome 1, uniparental disomy 1q12 q21' SubClassOf 'chromosomal anomaly'
http://purl.obolibrary.org/obo/GARD_0001878 EquivalentTo 'chromosome 1, uniparental disomy 1q12 q21'
http://purl.obolibrary.org/obo/GARD_0000504
http://purl.obolibrary.org/obo/GARD_0000504 EquivalentTo 'spondylometaphyseal dysplasia, Schmidt type'
http://purl.obolibrary.org/obo/MONDO_0043087
thickened earlobes with conductive deafness from incus-stapes abnormalities
http://purl.obolibrary.org/obo/MESH_C536511 EquivalentTo 'thickened earlobes with conductive deafness from incus-stapes abnormalities'
'thickened earlobes with conductive deafness from incus-stapes abnormalities' SubClassOf 'syndromic disease'
http://purl.obolibrary.org/obo/GARD_0002034 EquivalentTo 'thickened earlobes with conductive deafness from incus-stapes abnormalities'
http://purl.obolibrary.org/obo/MONDO_0043089
acute posterior multifocal placoid pigment epitheliopathy
http://purl.obolibrary.org/obo/GARD_0002183 EquivalentTo 'acute posterior multifocal placoid pigment epitheliopathy'
'acute posterior multifocal placoid pigment epitheliopathy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_89188001
'acute posterior multifocal placoid pigment epitheliopathy' SubClassOf 'multifocal choroiditis'
http://purl.obolibrary.org/obo/SCTID_195029002
'extrinsic cardiomyopathy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_195029002
http://purl.obolibrary.org/obo/SCTID_47277009
'Far-East scarlet-like fever' EquivalentTo http://purl.obolibrary.org/obo/SCTID_47277009
http://purl.obolibrary.org/obo/MESH_D036841
http://purl.obolibrary.org/obo/MESH_D036841 EquivalentTo 'ciguatera fish poisoning'
http://purl.obolibrary.org/obo/SCTID_254144002
'osteoglophonic dwarfism' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254144002
http://purl.obolibrary.org/obo/GARD_0009609
http://purl.obolibrary.org/obo/GARD_0009609 EquivalentTo 'nystagmus, congenital, autosomal recessive'
http://purl.obolibrary.org/obo/GARD_0009606
http://purl.obolibrary.org/obo/GARD_0009606 EquivalentTo 'chorea, remitting, with nystagmus and cataract'
http://purl.obolibrary.org/obo/MESH_C565867
http://purl.obolibrary.org/obo/MESH_C565867 EquivalentTo 'hepatic fibrosis-renal cysts-intellectual disability syndrome'
http://purl.obolibrary.org/obo/GARD_0009615
http://purl.obolibrary.org/obo/GARD_0009615 EquivalentTo 'temporal arteritis'
http://purl.obolibrary.org/obo/GARD_0009612
http://purl.obolibrary.org/obo/GARD_0009612 EquivalentTo 'ichthyosis and male hypogonadism'
http://purl.obolibrary.org/obo/GARD_0009611
http://purl.obolibrary.org/obo/GARD_0009611 EquivalentTo 'spinocerebellar ataxia type 13'
http://purl.obolibrary.org/obo/GARD_0009610
http://purl.obolibrary.org/obo/GARD_0009610 EquivalentTo 'MCOPCT1'
http://purl.obolibrary.org/obo/GARD_0009619
http://purl.obolibrary.org/obo/GARD_0009619 EquivalentTo 'actinic cheilitis'
http://purl.obolibrary.org/obo/MESH_C565876
http://purl.obolibrary.org/obo/MESH_C565876 EquivalentTo 'colobomatous optic disc-macular atrophy-chorioretinopathy syndrome'
http://purl.obolibrary.org/obo/GARD_0009616
http://purl.obolibrary.org/obo/GARD_0009616 EquivalentTo 'hereditary spastic paraplegia 13'
http://purl.obolibrary.org/obo/GARD_0010604
http://purl.obolibrary.org/obo/GARD_0010604 EquivalentTo 'short stature-pituitary and cerebellar defects-small sella turcica syndrome'
http://purl.obolibrary.org/obo/GARD_0010608
http://purl.obolibrary.org/obo/GARD_0010608 EquivalentTo 'atelosteogenesis type III'
http://purl.obolibrary.org/obo/GARD_0010602
http://purl.obolibrary.org/obo/GARD_0010602 EquivalentTo 'combined pituitary hormone deficiencies, genetic form'
http://purl.obolibrary.org/obo/GARD_0010601
http://purl.obolibrary.org/obo/GARD_0010601 EquivalentTo 'pituitary hormone deficiency, combined, 1'
http://purl.obolibrary.org/obo/GARD_0009628
http://purl.obolibrary.org/obo/GARD_0009628 EquivalentTo 'dystonia 12'
http://purl.obolibrary.org/obo/GARD_0010614
http://purl.obolibrary.org/obo/GARD_0010614 EquivalentTo 'adrenomyeloneuropathy'
http://purl.obolibrary.org/obo/GARD_0009635
http://purl.obolibrary.org/obo/GARD_0009635 EquivalentTo 'pruritic urticarial papules and plaques of pregnancy'
http://purl.obolibrary.org/obo/GARD_0010616
http://purl.obolibrary.org/obo/GARD_0010616 EquivalentTo 'spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome'
http://purl.obolibrary.org/obo/GARD_0009633
http://purl.obolibrary.org/obo/GARD_0009633 EquivalentTo 'fundus dystrophy, pseudoinflammatory, recessive form'
http://purl.obolibrary.org/obo/GARD_0010619
http://purl.obolibrary.org/obo/GARD_0010619 EquivalentTo 'osteogenesis imperfecta type 9'
http://purl.obolibrary.org/obo/GARD_0009630
http://purl.obolibrary.org/obo/GARD_0009630 EquivalentTo 'torsion dystonia 6'
http://purl.obolibrary.org/obo/GARD_0010611
http://purl.obolibrary.org/obo/GARD_0010611 EquivalentTo 'spondyloepimetaphyseal dysplasia, matrilin-3 type'
http://purl.obolibrary.org/obo/GARD_0010612
http://purl.obolibrary.org/obo/GARD_0010612 EquivalentTo 'thoracomelic dysplasia'
http://www.orpha.net/ORDO/Orphanet_90649
'orofaciodigital syndrome VII' EquivalentTo http://www.orpha.net/ORDO/Orphanet_90649
http://purl.obolibrary.org/obo/GARD_0010627
http://purl.obolibrary.org/obo/GARD_0010627 EquivalentTo 'growth delay due to insulin-like growth factor type 1 deficiency'
http://purl.obolibrary.org/obo/GARD_0009644
http://purl.obolibrary.org/obo/GARD_0009644 EquivalentTo 'multicentric Castleman disease'
http://purl.obolibrary.org/obo/GARD_0010629
http://purl.obolibrary.org/obo/GARD_0010629 EquivalentTo 'spondyloepiphyseal dysplasia, Cantu type'
http://purl.obolibrary.org/obo/GARD_0009642
http://purl.obolibrary.org/obo/GARD_0009642 EquivalentTo 'autosomal recessive juvenile Parkinson disease 2'
http://purl.obolibrary.org/obo/GARD_0009641
http://purl.obolibrary.org/obo/GARD_0009641 EquivalentTo 'oculocutaneous albinism type 3'
http://purl.obolibrary.org/obo/GARD_0009640
http://purl.obolibrary.org/obo/GARD_0009640 EquivalentTo 'autosomal agammaglobulinemia'
http://purl.obolibrary.org/obo/SCTID_80960004
'Yersinia enterocolitica infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_80960004
http://purl.obolibrary.org/obo/SCTID_129179000
'piriformis syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_129179000
http://purl.obolibrary.org/obo/SCTID_205808005
'malformation syndrome with short stature' EquivalentTo http://purl.obolibrary.org/obo/SCTID_205808005
http://purl.obolibrary.org/obo/GARD_0009603
http://purl.obolibrary.org/obo/GARD_0009603 EquivalentTo 'NYS4'
http://purl.obolibrary.org/obo/GARD_0009602
http://purl.obolibrary.org/obo/GARD_0009602 EquivalentTo 'episodic ataxia type 2'
http://purl.obolibrary.org/obo/GARD_0009601
http://purl.obolibrary.org/obo/GARD_0009601 EquivalentTo 'hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses'
http://purl.obolibrary.org/obo/GARD_0009600
http://purl.obolibrary.org/obo/GARD_0009600 EquivalentTo 'NYS3'
http://purl.obolibrary.org/obo/GARD_0009698
http://purl.obolibrary.org/obo/GARD_0009698 EquivalentTo 'recombinant 8 syndrome'
http://purl.obolibrary.org/obo/SCTID_238926009
'Rowell syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_238926009
http://purl.obolibrary.org/obo/GARD_0009690
http://purl.obolibrary.org/obo/GARD_0009690 EquivalentTo 'Kienbock disease'
http://purl.obolibrary.org/obo/GARD_0010679
http://purl.obolibrary.org/obo/GARD_0010679 EquivalentTo 'autosomal dominant medullary cystic kidney disease with hyperuricemia'
http://purl.obolibrary.org/obo/GARD_0010693
http://purl.obolibrary.org/obo/GARD_0010693 EquivalentTo 'orofaciodigital syndrome type 12'
http://purl.obolibrary.org/obo/GARD_0010692
http://purl.obolibrary.org/obo/GARD_0010692 EquivalentTo 'orofaciodigital syndrome'
http://purl.obolibrary.org/obo/GARD_0010684
http://purl.obolibrary.org/obo/GARD_0010684 EquivalentTo 'lateral sclerosis'
http://purl.obolibrary.org/obo/GARD_0010686
http://purl.obolibrary.org/obo/GARD_0010686 EquivalentTo 'neuroferritinopathy'
http://purl.obolibrary.org/obo/GARD_0010685
http://purl.obolibrary.org/obo/GARD_0010685 EquivalentTo 'chilaiditi syndrome'
http://purl.obolibrary.org/obo/GARD_0010688
http://purl.obolibrary.org/obo/GARD_0010688 EquivalentTo 'neurodegeneration with brain iron accumulation 2B'
http://purl.obolibrary.org/obo/GARD_0010687
http://purl.obolibrary.org/obo/GARD_0010687 EquivalentTo 'MGS'
http://purl.obolibrary.org/obo/MESH_C565805
http://purl.obolibrary.org/obo/MESH_C565805 EquivalentTo 'short stature due to partial GHR deficiency'
http://www.orpha.net/ORDO/Orphanet_138900
'cardiomyopathy and deafness due to tRNA lysine gene mutation' EquivalentTo http://www.orpha.net/ORDO/Orphanet_138900
http://purl.obolibrary.org/obo/GARD_0010695
http://purl.obolibrary.org/obo/GARD_0010695 EquivalentTo 'atrial septal defect, ostium primum type'
http://purl.obolibrary.org/obo/GARD_0010694
http://purl.obolibrary.org/obo/GARD_0010694 EquivalentTo 'orofaciodigital syndrome type 13'
http://purl.obolibrary.org/obo/GARD_0010696
http://purl.obolibrary.org/obo/GARD_0010696 EquivalentTo 'atrial septal defect, sinus venosus type'
http://purl.obolibrary.org/obo/MESH_C565810
http://purl.obolibrary.org/obo/MESH_C565810 EquivalentTo 'generalized epilepsy with febrile seizures plus, type 2'
http://purl.obolibrary.org/obo/SCTID_711160007
'eosinophil peroxidase deficiency' EquivalentTo http://purl.obolibrary.org/obo/SCTID_711160007
http://purl.obolibrary.org/obo/GARD_0009659
http://purl.obolibrary.org/obo/GARD_0009659 EquivalentTo 'Bartter disease type 3'
http://purl.obolibrary.org/obo/GARD_0009658
http://purl.obolibrary.org/obo/GARD_0009658 EquivalentTo 'Bartter disease type 2'
http://purl.obolibrary.org/obo/GARD_0009657
http://purl.obolibrary.org/obo/GARD_0009657 EquivalentTo 'anauxetic dysplasia'
http://purl.obolibrary.org/obo/GARD_0009655
http://purl.obolibrary.org/obo/GARD_0009655 EquivalentTo 'hyperacusis'
http://purl.obolibrary.org/obo/GARD_0009650
http://purl.obolibrary.org/obo/GARD_0009650 EquivalentTo 'achromatopsia 3'
http://purl.obolibrary.org/obo/GARD_0010630
http://purl.obolibrary.org/obo/GARD_0010630 EquivalentTo 'congenital diarrhea 5 with tufting enteropathy'
http://purl.obolibrary.org/obo/SCTID_715462003
'microcephaly-cervical spine fusion anomalies syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_715462003
http://purl.obolibrary.org/obo/GARD_0010647
http://purl.obolibrary.org/obo/GARD_0010647 EquivalentTo 'spondylometaphyseal dysplasia-cone-rod dystrophy syndrome'
http://purl.obolibrary.org/obo/GARD_0010649
http://purl.obolibrary.org/obo/GARD_0010649 EquivalentTo 'cone dystrophy with supernormal rod response'
http://purl.obolibrary.org/obo/GARD_0009660
http://purl.obolibrary.org/obo/GARD_0009660 EquivalentTo 'amaurosis fugax'
http://purl.obolibrary.org/obo/GARD_0010644
http://purl.obolibrary.org/obo/GARD_0010644 EquivalentTo 'pineal parenchymal tumor of intermediate differentiation'
http://purl.obolibrary.org/obo/GARD_0010643
http://purl.obolibrary.org/obo/GARD_0010643 EquivalentTo 'Carney-Stratakis syndrome'
http://purl.obolibrary.org/obo/GARD_0009678
http://purl.obolibrary.org/obo/GARD_0009678 EquivalentTo 'lattice corneal dystrophy type I'
http://purl.obolibrary.org/obo/GARD_0009677
http://purl.obolibrary.org/obo/GARD_0009677 EquivalentTo 'granular corneal dystrophy type i'
http://purl.obolibrary.org/obo/GARD_0009675
http://purl.obolibrary.org/obo/GARD_0009675 EquivalentTo 'isotretinoin-like syndrome'
http://purl.obolibrary.org/obo/GARD_0010656
http://purl.obolibrary.org/obo/GARD_0010656 EquivalentTo 'cone-rod dystrophy 6'
http://purl.obolibrary.org/obo/GARD_0009681
http://purl.obolibrary.org/obo/GARD_0009681 EquivalentTo 'RHYNS syndrome'
http://purl.obolibrary.org/obo/GARD_0010595
http://purl.obolibrary.org/obo/GARD_0010595 EquivalentTo 'BNAR syndrome'
http://purl.obolibrary.org/obo/MESH_D012713
http://purl.obolibrary.org/obo/MESH_D012713 EquivalentTo 'serum sickness'
http://purl.obolibrary.org/obo/MESH_D012700
http://purl.obolibrary.org/obo/MESH_D012700 EquivalentTo 'serositis'
http://purl.obolibrary.org/obo/GARD_0009505
http://purl.obolibrary.org/obo/GARD_0009505 EquivalentTo 'porokeratosis 3, disseminated superficial actinic type'
http://purl.obolibrary.org/obo/NCIT_C9308
'lymphoproliferative syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C9308
http://purl.obolibrary.org/obo/GARD_0009502
http://purl.obolibrary.org/obo/GARD_0009502 EquivalentTo 'VVS'
http://purl.obolibrary.org/obo/GARD_0009500
http://purl.obolibrary.org/obo/GARD_0009500 EquivalentTo 'ETM2'
http://purl.obolibrary.org/obo/MESH_C565991
http://purl.obolibrary.org/obo/MESH_C565991 EquivalentTo 'Wilms tumor 3'
http://purl.obolibrary.org/obo/SCTID_36222008
'carcinoid heart disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_36222008
http://purl.obolibrary.org/obo/GARD_0009509
http://purl.obolibrary.org/obo/GARD_0009509 EquivalentTo 'Renpenning syndrome'
http://purl.obolibrary.org/obo/GARD_0009508
http://purl.obolibrary.org/obo/GARD_0009508 EquivalentTo 'cerulean cataract'
http://purl.obolibrary.org/obo/GARD_0009507
http://purl.obolibrary.org/obo/GARD_0009507 EquivalentTo 'cornea guttata with anterior polar cataracts'
http://purl.obolibrary.org/obo/GARD_0009506
http://purl.obolibrary.org/obo/GARD_0009506 EquivalentTo 'craniosynostosis-anal anomalies-porokeratosis syndrome'
http://purl.obolibrary.org/obo/GARD_0009513
http://purl.obolibrary.org/obo/GARD_0009513 EquivalentTo 'linear scleroderma'
http://purl.obolibrary.org/obo/GARD_0009512
http://purl.obolibrary.org/obo/GARD_0009512 EquivalentTo 'ainhum (disease)'
http://purl.obolibrary.org/obo/GARD_0009517
http://purl.obolibrary.org/obo/GARD_0009517 EquivalentTo 'bilateral multicystic dysplastic kidney'
http://purl.obolibrary.org/obo/GARD_0010504
http://purl.obolibrary.org/obo/GARD_0010504 EquivalentTo 'craniorachischisis (disease)'
http://purl.obolibrary.org/obo/GARD_0010509
http://purl.obolibrary.org/obo/GARD_0010509 EquivalentTo 'acquired partial lipodystrophy'
http://purl.obolibrary.org/obo/GARD_0010508
http://purl.obolibrary.org/obo/GARD_0010508 EquivalentTo 'infantile Bartter syndrome with sensorineural deafness'
http://purl.obolibrary.org/obo/GARD_0009520
http://purl.obolibrary.org/obo/GARD_0009520 EquivalentTo 'Buruli ulcer, susceptibility to'
http://purl.obolibrary.org/obo/MESH_D046089
http://purl.obolibrary.org/obo/MESH_D046089 EquivalentTo 'hearing loss, mixed conductive-sensorineural'
http://purl.obolibrary.org/obo/MESH_C565969
http://purl.obolibrary.org/obo/MESH_C565969 EquivalentTo 'neutropenia, severe congenital, 1, autosomal dominant'
http://purl.obolibrary.org/obo/SCTID_126802007
'buccal mucosa neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_126802007
http://purl.obolibrary.org/obo/GARD_0009575
http://purl.obolibrary.org/obo/GARD_0009575 EquivalentTo 'papillary renal cell carcinoma'
http://purl.obolibrary.org/obo/GARD_0009573
http://purl.obolibrary.org/obo/GARD_0009573 EquivalentTo 'collecting duct carcinoma'
http://purl.obolibrary.org/obo/GARD_0009570
http://purl.obolibrary.org/obo/GARD_0009570 EquivalentTo 'acral lentiginous melanoma (disease)'
http://purl.obolibrary.org/obo/GARD_0009589
http://purl.obolibrary.org/obo/GARD_0009589 EquivalentTo 'hereditary spastic paraplegia 14'
http://purl.obolibrary.org/obo/GARD_0009588
http://purl.obolibrary.org/obo/GARD_0009588 EquivalentTo 'hereditary spastic paraplegia 19'
http://purl.obolibrary.org/obo/GARD_0009587
http://purl.obolibrary.org/obo/GARD_0009587 EquivalentTo 'hereditary spastic paraplegia 26'
http://purl.obolibrary.org/obo/GARD_0009586
http://purl.obolibrary.org/obo/GARD_0009586 EquivalentTo 'hereditary spastic paraplegia 12'
http://purl.obolibrary.org/obo/GARD_0009585
http://purl.obolibrary.org/obo/GARD_0009585 EquivalentTo 'hereditary spastic paraplegia 16'
http://purl.obolibrary.org/obo/GARD_0009584
http://purl.obolibrary.org/obo/GARD_0009584 EquivalentTo 'vibrio vulnificus infectious disease'
http://purl.obolibrary.org/obo/GARD_0009583
http://purl.obolibrary.org/obo/GARD_0009583 EquivalentTo 'autosomal dominant spastic paraplegia type 9'
http://purl.obolibrary.org/obo/GARD_0009582
http://purl.obolibrary.org/obo/GARD_0009582 EquivalentTo 'hereditary spastic paraplegia 25'
http://purl.obolibrary.org/obo/GARD_0009581
http://purl.obolibrary.org/obo/GARD_0009581 EquivalentTo 'hereditary spastic paraplegia 15'
http://purl.obolibrary.org/obo/MESH_C565928
http://purl.obolibrary.org/obo/MESH_C565928 EquivalentTo 'atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome'
http://purl.obolibrary.org/obo/SCTID_15845006
'Buruli ulcer disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_15845006
http://purl.obolibrary.org/obo/GARD_0010583
http://purl.obolibrary.org/obo/GARD_0010583 EquivalentTo 'neonatal ichthyosis-sclerosing cholangitis syndrome'
http://purl.obolibrary.org/obo/GARD_0009599
http://purl.obolibrary.org/obo/GARD_0009599 EquivalentTo 'NYS2'
http://purl.obolibrary.org/obo/GARD_0010574
http://purl.obolibrary.org/obo/GARD_0010574 EquivalentTo 'Aland island eye disease'
http://purl.obolibrary.org/obo/GARD_0010576
http://purl.obolibrary.org/obo/GARD_0010576 EquivalentTo 'thrombocytopenia with elevated serum IgA and renal disease'
http://purl.obolibrary.org/obo/GARD_0009591
http://purl.obolibrary.org/obo/GARD_0009591 EquivalentTo 'hereditary spastic paraplegia 8'
http://purl.obolibrary.org/obo/GARD_0009590
http://purl.obolibrary.org/obo/GARD_0009590 EquivalentTo 'hereditary spastic paraplegia 10'
http://purl.obolibrary.org/obo/GARD_0010590
http://purl.obolibrary.org/obo/GARD_0010590 EquivalentTo 'mesoaxial synostotic syndactyly with phalangeal reduction'
http://purl.obolibrary.org/obo/GARD_0010594
http://purl.obolibrary.org/obo/GARD_0010594 EquivalentTo 'neurodegenerative syndrome due to cerebral folate transport deficiency'
http://purl.obolibrary.org/obo/GARD_0010593
http://purl.obolibrary.org/obo/GARD_0010593 EquivalentTo 'acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins'
http://purl.obolibrary.org/obo/GARD_0010587
http://purl.obolibrary.org/obo/GARD_0010587 EquivalentTo 'adult-onset autosomal dominant demyelinating leukodystrophy'
http://purl.obolibrary.org/obo/GARD_0010586
http://purl.obolibrary.org/obo/GARD_0010586 EquivalentTo 'Loeys-Dietz syndrome 2'
http://purl.obolibrary.org/obo/GARD_0010588
http://purl.obolibrary.org/obo/GARD_0010588 EquivalentTo 'Loeys-Dietz syndrome 4'
http://purl.obolibrary.org/obo/GARD_0009528
http://purl.obolibrary.org/obo/GARD_0009528 EquivalentTo 'cyclosporiasis'
http://purl.obolibrary.org/obo/GARD_0010516
http://purl.obolibrary.org/obo/GARD_0010516 EquivalentTo 'sterile multifocal osteomyelitis with periostitis and pustulosis'
http://purl.obolibrary.org/obo/GARD_0010515
http://purl.obolibrary.org/obo/GARD_0010515 EquivalentTo 'tracheomalacia'
http://purl.obolibrary.org/obo/GARD_0009535
http://purl.obolibrary.org/obo/GARD_0009535 EquivalentTo 'familial cold autoinflammatory syndrome'
http://purl.obolibrary.org/obo/GARD_0010512
http://purl.obolibrary.org/obo/GARD_0010512 EquivalentTo 'Kniest-like dysplasia with pursed lips and ectopia lentis'
http://purl.obolibrary.org/obo/GARD_0010511
http://purl.obolibrary.org/obo/GARD_0010511 EquivalentTo 'Sorsby's fundus dystrophy'
http://purl.obolibrary.org/obo/GARD_0010514
http://purl.obolibrary.org/obo/GARD_0010514 EquivalentTo 'EAST syndrome'
http://purl.obolibrary.org/obo/GARD_0010529
http://purl.obolibrary.org/obo/GARD_0010529 EquivalentTo 'myofibrillar myopathy (disease)'
http://purl.obolibrary.org/obo/GARD_0010523
http://purl.obolibrary.org/obo/GARD_0010523 EquivalentTo 'combined immunodeficiency due to STIM1 deficiency'
http://purl.obolibrary.org/obo/GARD_0010522
http://purl.obolibrary.org/obo/GARD_0010522 EquivalentTo 'congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome'
http://purl.obolibrary.org/obo/GARD_0010525
http://purl.obolibrary.org/obo/GARD_0010525 EquivalentTo 'chromosome 15q11.2 deletion syndrome'
http://purl.obolibrary.org/obo/GARD_0010524
http://purl.obolibrary.org/obo/GARD_0010524 EquivalentTo 'combined immunodeficiency due to ORAI1 deficiency'
http://purl.obolibrary.org/obo/GARD_0009559
http://purl.obolibrary.org/obo/GARD_0009559 EquivalentTo 'staphyloenterotoxemia'
http://purl.obolibrary.org/obo/GARD_0010533
http://purl.obolibrary.org/obo/GARD_0010533 EquivalentTo 'X-linked dystonia-parkinsonism'
http://purl.obolibrary.org/obo/GARD_0010550
http://purl.obolibrary.org/obo/GARD_0010550 EquivalentTo 'mycobacterium xenopi infection'
http://purl.obolibrary.org/obo/GARD_0009568
http://purl.obolibrary.org/obo/GARD_0009568 EquivalentTo 'IgG4-related retroperitoneal fibrosis'
http://purl.obolibrary.org/obo/GARD_0009563
http://purl.obolibrary.org/obo/GARD_0009563 EquivalentTo 'neonatal lupus erythematosus'
http://purl.obolibrary.org/obo/GARD_0010541
http://purl.obolibrary.org/obo/GARD_0010541 EquivalentTo 'childhood onset GLUT1 deficiency syndrome 2'
http://purl.obolibrary.org/obo/GARD_0010543
http://purl.obolibrary.org/obo/GARD_0010543 EquivalentTo 'neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome'
http://purl.obolibrary.org/obo/GARD_0009560
http://purl.obolibrary.org/obo/GARD_0009560 EquivalentTo 'toxic shock syndrome'
http://purl.obolibrary.org/obo/SCTID_43935004
'gastric antral vascular ectasia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_43935004
http://purl.obolibrary.org/obo/GARD_0010480
http://purl.obolibrary.org/obo/GARD_0010480 EquivalentTo 'spinocerebellar ataxia type 29'
http://purl.obolibrary.org/obo/GARD_0010481
http://purl.obolibrary.org/obo/GARD_0010481 EquivalentTo 'cerebellar ataxia type 9'
http://purl.obolibrary.org/obo/GARD_0010475
http://purl.obolibrary.org/obo/GARD_0010475 EquivalentTo 'spinocerebellar ataxia type 11'
http://purl.obolibrary.org/obo/GARD_0009496
http://purl.obolibrary.org/obo/GARD_0009496 EquivalentTo 'hereditary renal hypouricemia'
http://purl.obolibrary.org/obo/GARD_0010474
http://purl.obolibrary.org/obo/GARD_0010474 EquivalentTo 'spinocerebellar ataxia type 10'
http://purl.obolibrary.org/obo/GARD_0010477
http://purl.obolibrary.org/obo/GARD_0010477 EquivalentTo 'spinocerebellar ataxia type 15/16'
http://purl.obolibrary.org/obo/GARD_0010476
http://purl.obolibrary.org/obo/GARD_0010476 EquivalentTo 'spinocerebellar ataxia type 12'
http://purl.obolibrary.org/obo/GARD_0009493
http://purl.obolibrary.org/obo/GARD_0009493 EquivalentTo 'GNE myopathy'
http://purl.obolibrary.org/obo/GARD_0010494
http://purl.obolibrary.org/obo/GARD_0010494 EquivalentTo 'meconium aspiration syndrome'
http://purl.obolibrary.org/obo/GARD_0010486
http://purl.obolibrary.org/obo/GARD_0010486 EquivalentTo 'craniopharyngioma'
http://purl.obolibrary.org/obo/SCTID_707625001
'laryngeal neuroendocrine neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_707625001
http://purl.obolibrary.org/obo/NCIT_C9152
'seizures-scoliosis-macrocephaly syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C9152
http://purl.obolibrary.org/obo/NCIT_C9175
'intestinal obstruction' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C9175
http://purl.obolibrary.org/obo/NCBITaxon_1781
http://purl.obolibrary.org/obo/PR_000009132
http://purl.obolibrary.org/obo/MESH_C565690
http://purl.obolibrary.org/obo/MESH_C565690 EquivalentTo 'combined oxidative phosphorylation defect type 4'
http://purl.obolibrary.org/obo/MESH_C565691
http://purl.obolibrary.org/obo/MESH_C565691 EquivalentTo 'hereditary hemorrhagic telangiectasia type 4'
http://purl.obolibrary.org/obo/MESH_C565629
http://purl.obolibrary.org/obo/MESH_C565629 EquivalentTo 'diaphragmatic hernia 2'
http://purl.obolibrary.org/obo/MESH_C565631
http://purl.obolibrary.org/obo/MESH_C565631 EquivalentTo 'Wolfram-like syndrome'
http://purl.obolibrary.org/obo/MESH_C565644
http://purl.obolibrary.org/obo/MESH_C565644 EquivalentTo 'conductive deafness-malformed external ear syndrome'
http://purl.obolibrary.org/obo/MESH_C565647
http://purl.obolibrary.org/obo/MESH_C565647 EquivalentTo 'split hand-foot malformation 1 with sensorineural hearing loss'
http://purl.obolibrary.org/obo/GARD_0009404
http://purl.obolibrary.org/obo/GARD_0009404 EquivalentTo 'prostate phyllodes tumor'
http://purl.obolibrary.org/obo/GARD_0009400
http://purl.obolibrary.org/obo/GARD_0009400 EquivalentTo 'Tako-tsubo cardiomyopathy'
http://purl.obolibrary.org/obo/NCIT_C9229
'systemic disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C9229
http://purl.obolibrary.org/obo/SCTID_234590006
'gluthathione peroxidase deficiency' EquivalentTo http://purl.obolibrary.org/obo/SCTID_234590006
http://purl.obolibrary.org/obo/MESH_C565611
http://purl.obolibrary.org/obo/MESH_C565611 EquivalentTo 'dyskeratosis congenita, autosomal recessive 1'
http://purl.obolibrary.org/obo/GARD_0010438
http://purl.obolibrary.org/obo/GARD_0010438 EquivalentTo 'malignant syringoma'
http://purl.obolibrary.org/obo/GARD_0009458
http://purl.obolibrary.org/obo/GARD_0009458 EquivalentTo 'Loeys-Dietz syndrome 1'
http://purl.obolibrary.org/obo/GARD_0009457
http://purl.obolibrary.org/obo/GARD_0009457 EquivalentTo 'isolated polycystic liver disease'
http://purl.obolibrary.org/obo/GARD_0009456
http://purl.obolibrary.org/obo/GARD_0009456 EquivalentTo 'X-linked sideroblastic anemia'
http://purl.obolibrary.org/obo/GARD_0009453
http://purl.obolibrary.org/obo/GARD_0009453 EquivalentTo 'Andersen-Tawil syndrome'
http://purl.obolibrary.org/obo/GARD_0009450
http://purl.obolibrary.org/obo/GARD_0009450 EquivalentTo 'hypertrophy of breast'
http://purl.obolibrary.org/obo/GARD_0010432
http://purl.obolibrary.org/obo/GARD_0010432 EquivalentTo 'cardiac arrhythmia, ankyrin-b-related'
http://purl.obolibrary.org/obo/GARD_0010450
http://purl.obolibrary.org/obo/GARD_0010450 EquivalentTo 'cerebral palsy'
http://purl.obolibrary.org/obo/GARD_0009469
http://purl.obolibrary.org/obo/GARD_0009469 EquivalentTo 'Alzheimer disease 4'
http://purl.obolibrary.org/obo/GARD_0009468
http://purl.obolibrary.org/obo/GARD_0009468 EquivalentTo 'Alzheimer disease 3'
http://purl.obolibrary.org/obo/GARD_0009467
http://purl.obolibrary.org/obo/GARD_0009467 EquivalentTo 'Alzheimer disease 2'
http://purl.obolibrary.org/obo/GARD_0010441
http://purl.obolibrary.org/obo/GARD_0010441 EquivalentTo 'lathyrism'
http://purl.obolibrary.org/obo/GARD_0010460
http://purl.obolibrary.org/obo/GARD_0010460 EquivalentTo 'GCGR-related hyperglucagonemia'
http://purl.obolibrary.org/obo/GARD_0009479
http://purl.obolibrary.org/obo/GARD_0009479 EquivalentTo 'vitamin B12-responsive methylmalonic acidemia type cblB'
http://purl.obolibrary.org/obo/GARD_0009473
http://purl.obolibrary.org/obo/GARD_0009473 EquivalentTo 'peroxisome biogenesis disorder'
http://purl.obolibrary.org/obo/GARD_0010471
http://purl.obolibrary.org/obo/GARD_0010471 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2G'
http://purl.obolibrary.org/obo/GARD_0009488
http://purl.obolibrary.org/obo/GARD_0009488 EquivalentTo 'Worth syndrome'
http://purl.obolibrary.org/obo/GARD_0009486
http://purl.obolibrary.org/obo/GARD_0009486 EquivalentTo 'isolated congenital anosmia'
http://purl.obolibrary.org/obo/GARD_0009485
http://purl.obolibrary.org/obo/GARD_0009485 EquivalentTo 'glaucoma 1, open angle, A'
http://purl.obolibrary.org/obo/GARD_0009484
http://purl.obolibrary.org/obo/GARD_0009484 EquivalentTo 'superficial siderosis'
http://purl.obolibrary.org/obo/GARD_0009482
http://purl.obolibrary.org/obo/GARD_0009482 EquivalentTo 'abducens nerve palsy'
http://purl.obolibrary.org/obo/GARD_0009481
http://purl.obolibrary.org/obo/GARD_0009481 EquivalentTo 'autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis'
http://purl.obolibrary.org/obo/GARD_0010469
http://purl.obolibrary.org/obo/GARD_0010469 EquivalentTo 'spinocerebellar ataxia type 17'
http://purl.obolibrary.org/obo/GARD_0009419
http://purl.obolibrary.org/obo/GARD_0009419 EquivalentTo 'rokitansky-aschoff sinuses of the gallbladder'
http://purl.obolibrary.org/obo/GARD_0009428
http://purl.obolibrary.org/obo/GARD_0009428 EquivalentTo 'thyroid Hurthle cell carcinoma'
http://purl.obolibrary.org/obo/GARD_0010407
http://purl.obolibrary.org/obo/GARD_0010407 EquivalentTo 'rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome'
http://purl.obolibrary.org/obo/GARD_0010401
http://purl.obolibrary.org/obo/GARD_0010401 EquivalentTo 'retinitis pigmentosa 30'
http://purl.obolibrary.org/obo/GARD_0010419
http://purl.obolibrary.org/obo/GARD_0010419 EquivalentTo 'myotonic dystrophy'
http://purl.obolibrary.org/obo/GARD_0010418
http://purl.obolibrary.org/obo/GARD_0010418 EquivalentTo 'hemophilia'
http://purl.obolibrary.org/obo/GARD_0009434
http://purl.obolibrary.org/obo/GARD_0009434 EquivalentTo 'seasonal affective disorder'
http://purl.obolibrary.org/obo/GARD_0009430
http://purl.obolibrary.org/obo/GARD_0009430 EquivalentTo 'congenital thrombotic thrombocytopenic purpura'
http://purl.obolibrary.org/obo/GARD_0010411
http://purl.obolibrary.org/obo/GARD_0010411 EquivalentTo 'ovarian small cell carcinoma'
http://purl.obolibrary.org/obo/GARD_0010412
http://purl.obolibrary.org/obo/GARD_0010412 EquivalentTo 'spitz nevus'
http://purl.obolibrary.org/obo/GARD_0010414
http://purl.obolibrary.org/obo/GARD_0010414 EquivalentTo 'goblet cell carcinoma'
http://purl.obolibrary.org/obo/GARD_0010428
http://purl.obolibrary.org/obo/GARD_0010428 EquivalentTo 'pure autonomic failure'
http://purl.obolibrary.org/obo/GARD_0009449
http://purl.obolibrary.org/obo/GARD_0009449 EquivalentTo 'Waterhouse-Friderichsen syndrome'
http://purl.obolibrary.org/obo/GARD_0010427
http://purl.obolibrary.org/obo/GARD_0010427 EquivalentTo 'X-linked hypohidrotic ectodermal dysplasia'
http://purl.obolibrary.org/obo/GARD_0009447
http://purl.obolibrary.org/obo/GARD_0009447 EquivalentTo 'congenital neuronal ceroid lipofuscinosis'
http://purl.obolibrary.org/obo/GARD_0010429
http://purl.obolibrary.org/obo/GARD_0010429 EquivalentTo 'autosomal dominant brachyolmia'
http://purl.obolibrary.org/obo/GARD_0009445
http://purl.obolibrary.org/obo/GARD_0009445 EquivalentTo 'renin-angiotensin-aldosterone system-blocker-induced angioedema'
http://purl.obolibrary.org/obo/GARD_0009442
http://purl.obolibrary.org/obo/GARD_0009442 EquivalentTo 'glycogen storage disease III'
http://purl.obolibrary.org/obo/GARD_0010420
http://purl.obolibrary.org/obo/GARD_0010420 EquivalentTo 'neurofibromatosis'
http://purl.obolibrary.org/obo/GARD_0009441
http://purl.obolibrary.org/obo/GARD_0009441 EquivalentTo 'Temple-Baraitser syndrome'
http://purl.obolibrary.org/obo/GARD_0010422
http://purl.obolibrary.org/obo/GARD_0010422 EquivalentTo 'cholesteatoma (disease)'
http://purl.obolibrary.org/obo/GARD_0010424
http://purl.obolibrary.org/obo/GARD_0010424 EquivalentTo 'CARASIL'
http://purl.obolibrary.org/obo/SCTID_194437008
'sleep disorder, initiating and maintaining sleep' EquivalentTo http://purl.obolibrary.org/obo/SCTID_194437008
http://purl.obolibrary.org/obo/SCTID_90858003
'angiodysplasia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_90858003
http://purl.obolibrary.org/obo/GARD_0010363
http://purl.obolibrary.org/obo/GARD_0010363 EquivalentTo 'nonsyndromic congenital nail disorder 1'
http://purl.obolibrary.org/obo/GARD_0010354
http://purl.obolibrary.org/obo/GARD_0010354 EquivalentTo 'omphalocele, diaphragmatic hernia, and radial ray defects'
http://purl.obolibrary.org/obo/GARD_0009371
http://purl.obolibrary.org/obo/GARD_0009371 EquivalentTo 'pituitary cancer'
http://purl.obolibrary.org/obo/GARD_0010372
http://purl.obolibrary.org/obo/GARD_0010372 EquivalentTo 'diarrhea-vomiting due to trehalase deficiency'
http://purl.obolibrary.org/obo/GARD_0010365
http://purl.obolibrary.org/obo/GARD_0010365 EquivalentTo 'dopa-responsive dystonia due to sepiapterin reductase deficiency'
http://purl.obolibrary.org/obo/GARD_0010366
http://purl.obolibrary.org/obo/GARD_0010366 EquivalentTo 'Toriello-Lacassie-Droste syndrome'
http://purl.obolibrary.org/obo/GARD_0009398
http://purl.obolibrary.org/obo/GARD_0009398 EquivalentTo 'botryoid rhabdomyosarcoma'
http://purl.obolibrary.org/obo/GARD_0009397
http://purl.obolibrary.org/obo/GARD_0009397 EquivalentTo 'ovarian Brenner tumor'
http://purl.obolibrary.org/obo/GARD_0009396
http://purl.obolibrary.org/obo/GARD_0009396 EquivalentTo 'fibrolamellar carcinoma'
http://purl.obolibrary.org/obo/SCTID_46795000
'actinic cheilitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_46795000
http://purl.obolibrary.org/obo/SCTID_105632002
'Bunyaviridae infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_105632002
http://purl.obolibrary.org/obo/SCTID_46252003
'progressive external ophthalmoplegia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_46252003
http://purl.obolibrary.org/obo/MESH_C565794
http://purl.obolibrary.org/obo/MESH_C565794 EquivalentTo 'microcephaly 2, primary, autosomal recessive, with or without cortical malformations'
http://purl.obolibrary.org/obo/MESH_C565790
http://purl.obolibrary.org/obo/MESH_C565790 EquivalentTo 'spinocerebellar ataxia type 12'
http://purl.obolibrary.org/obo/GARD_0000912
http://purl.obolibrary.org/obo/GARD_0000912 EquivalentTo 'blepharoptosis-myopia-ectopia lentis syndrome'
http://purl.obolibrary.org/obo/GARD_0000918
http://purl.obolibrary.org/obo/GARD_0000918 EquivalentTo 'Brachymorphism-onychodysplasia-dysphalangism syndrome'
http://purl.obolibrary.org/obo/MESH_C565740
http://purl.obolibrary.org/obo/MESH_C565740 EquivalentTo 'mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis'
http://purl.obolibrary.org/obo/MESH_C565757
http://purl.obolibrary.org/obo/MESH_C565757 EquivalentTo 'STHAG5'
http://purl.obolibrary.org/obo/GARD_0000938
http://purl.obolibrary.org/obo/GARD_0000938 EquivalentTo 'Tricho-retino-dento-digital syndrome'
http://purl.obolibrary.org/obo/GARD_0000932
http://purl.obolibrary.org/obo/GARD_0000932 EquivalentTo 'BC6C6k syndrome'
http://purl.obolibrary.org/obo/SCTID_717799003
'semicircular canal dehiscence syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_717799003
http://purl.obolibrary.org/obo/GARD_0000946
http://purl.obolibrary.org/obo/GARD_0000946 EquivalentTo 'tuberous sclerosis complex'
http://purl.obolibrary.org/obo/MESH_C565772
http://purl.obolibrary.org/obo/MESH_C565772 EquivalentTo 'spinocerebellar ataxia type 11'
http://purl.obolibrary.org/obo/GARD_0000944
http://purl.obolibrary.org/obo/GARD_0000944 EquivalentTo 'ataxia-hypogonadism-choroidal dystrophy syndrome'
http://purl.obolibrary.org/obo/GARD_0000942
http://purl.obolibrary.org/obo/GARD_0000942 EquivalentTo 'diphyllobothriasis'
http://purl.obolibrary.org/obo/MESH_C565700
http://purl.obolibrary.org/obo/MESH_C565700 EquivalentTo 'ANIB4'
http://purl.obolibrary.org/obo/MESH_C565711
http://purl.obolibrary.org/obo/MESH_C565711 EquivalentTo 'KYPSC1'
http://purl.obolibrary.org/obo/MESH_C565712
http://purl.obolibrary.org/obo/MESH_C565712 EquivalentTo 'immunodeficiency 25'
http://www.ebi.ac.uk/efo/EFO_0007940
'chronic venous insufficiency' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0007940
http://purl.obolibrary.org/obo/MESH_C565724
http://purl.obolibrary.org/obo/MESH_C565724 EquivalentTo 'GLC1I'
http://purl.obolibrary.org/obo/MESH_C565737
http://purl.obolibrary.org/obo/MESH_C565737 EquivalentTo 'hereditary North American Indian childhood cirrhosis'
http://purl.obolibrary.org/obo/GARD_0000905
http://purl.obolibrary.org/obo/GARD_0000905 EquivalentTo 'blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome'
http://purl.obolibrary.org/obo/SCTID_254815002
'giant congenital nevus' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254815002
http://purl.obolibrary.org/obo/GARD_0000994
http://purl.obolibrary.org/obo/GARD_0000994 EquivalentTo 'spondyloepiphyseal dysplasia, Maroteaux type'
http://purl.obolibrary.org/obo/GARD_0000998
http://purl.obolibrary.org/obo/GARD_0000998 EquivalentTo 'craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome'
http://purl.obolibrary.org/obo/GARD_0010319
http://purl.obolibrary.org/obo/GARD_0010319 EquivalentTo 'autosomal dominant prognathism'
http://purl.obolibrary.org/obo/GARD_0009331
http://purl.obolibrary.org/obo/GARD_0009331 EquivalentTo 'pediatric hepatocellular carcinoma'
http://purl.obolibrary.org/obo/GARD_0009330
http://purl.obolibrary.org/obo/GARD_0009330 EquivalentTo 'ovarian germ cell tumor'
http://purl.obolibrary.org/obo/GARD_0010311
http://purl.obolibrary.org/obo/GARD_0010311 EquivalentTo 'immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency'
http://purl.obolibrary.org/obo/GARD_0010314
http://purl.obolibrary.org/obo/GARD_0010314 EquivalentTo 'scapuloperoneal spinal muscular atrophy'
http://purl.obolibrary.org/obo/GARD_0010313
http://purl.obolibrary.org/obo/GARD_0010313 EquivalentTo 'MYH7-related late-onset scapuloperoneal muscular dystrophy'
http://purl.obolibrary.org/obo/GARD_0010316
http://purl.obolibrary.org/obo/GARD_0010316 EquivalentTo 'congenital multicore myopathy with external ophthalmoplegia'
http://purl.obolibrary.org/obo/GARD_0010321
http://purl.obolibrary.org/obo/GARD_0010321 EquivalentTo '3-methylglutaconic aciduria type 1'
http://purl.obolibrary.org/obo/GARD_0010323
http://purl.obolibrary.org/obo/GARD_0010323 EquivalentTo 'AGAT deficiency'
http://purl.obolibrary.org/obo/GARD_0010327
http://purl.obolibrary.org/obo/GARD_0010327 EquivalentTo 'progressive encephalopathy with leukodystrophy due to DECR deficiency'
http://purl.obolibrary.org/obo/GARD_0010341
http://purl.obolibrary.org/obo/GARD_0010341 EquivalentTo 'megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome'
http://purl.obolibrary.org/obo/GARD_0010339
http://purl.obolibrary.org/obo/GARD_0010339 EquivalentTo 'severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive'
http://purl.obolibrary.org/obo/GARD_0010334
http://purl.obolibrary.org/obo/GARD_0010334 EquivalentTo 'hereditary diffuse gastric cancer'
http://purl.obolibrary.org/obo/GARD_0009351
http://purl.obolibrary.org/obo/GARD_0009351 EquivalentTo 'myelodysplastic/myeloproliferative disease'
http://purl.obolibrary.org/obo/GARD_0010335
http://purl.obolibrary.org/obo/GARD_0010335 EquivalentTo 'mucopolysaccharidosis type 1'
http://purl.obolibrary.org/obo/GARD_0010350
http://purl.obolibrary.org/obo/GARD_0010350 EquivalentTo 'acquired hemophilia'
http://purl.obolibrary.org/obo/GARD_0010352
http://purl.obolibrary.org/obo/GARD_0010352 EquivalentTo 'hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome'
http://purl.obolibrary.org/obo/GARD_0009366
http://purl.obolibrary.org/obo/GARD_0009366 EquivalentTo 'penile carcinoma'
http://purl.obolibrary.org/obo/GARD_0009363
http://purl.obolibrary.org/obo/GARD_0009363 EquivalentTo 'borderline epithelial tumor of ovary'
http://purl.obolibrary.org/obo/GARD_0000959
http://purl.obolibrary.org/obo/GARD_0000959 EquivalentTo 'Ballard syndrome'
http://purl.obolibrary.org/obo/GARD_0000957
http://purl.obolibrary.org/obo/GARD_0000957 EquivalentTo 'hypertelorism, Teebi type'
http://purl.obolibrary.org/obo/GARD_0000955
http://purl.obolibrary.org/obo/GARD_0000955 EquivalentTo 'Branchioskeletogenital syndrome'
http://purl.obolibrary.org/obo/GARD_0000967
http://purl.obolibrary.org/obo/GARD_0000967 EquivalentTo 'brachydactyly-arterial hypertension syndrome'
http://purl.obolibrary.org/obo/GARD_0000960
http://purl.obolibrary.org/obo/GARD_0000960 EquivalentTo 'brachydactylous dwarfism, Mseleni type'
http://purl.obolibrary.org/obo/GARD_0009307
http://purl.obolibrary.org/obo/GARD_0009307 EquivalentTo 'brain cancer'
http://purl.obolibrary.org/obo/GARD_0009304
http://purl.obolibrary.org/obo/GARD_0009304 EquivalentTo 'cholangiocarcinoma'
http://purl.obolibrary.org/obo/GARD_0009303
http://purl.obolibrary.org/obo/GARD_0009303 EquivalentTo 'BCC1'
http://purl.obolibrary.org/obo/GARD_0009301
http://purl.obolibrary.org/obo/GARD_0009301 EquivalentTo 'childhood cerebellar astrocytic neoplasm'
http://purl.obolibrary.org/obo/GARD_0000972
http://purl.obolibrary.org/obo/GARD_0000972 EquivalentTo 'brachydactyly-preaxial hallux varus syndrome'
http://purl.obolibrary.org/obo/GARD_0000971
http://purl.obolibrary.org/obo/GARD_0000971 EquivalentTo 'brachydactyly-nystagmus-cerebellar ataxia syndrome'
http://purl.obolibrary.org/obo/GARD_0009309
http://purl.obolibrary.org/obo/GARD_0009309 EquivalentTo 'childhood optic nerve glioma'
http://purl.obolibrary.org/obo/GARD_0009318
http://purl.obolibrary.org/obo/GARD_0009318 EquivalentTo 'primary central nervous system lymphoma'
http://purl.obolibrary.org/obo/GARD_0009316
http://purl.obolibrary.org/obo/GARD_0009316 EquivalentTo 'carcinoid tumor (disease)'
http://purl.obolibrary.org/obo/GARD_0009312
http://purl.obolibrary.org/obo/GARD_0009312 EquivalentTo 'male breast carcinoma'
http://purl.obolibrary.org/obo/GARD_0000988
http://purl.obolibrary.org/obo/GARD_0000988 EquivalentTo 'brachymesomelia-renal syndrome'
http://purl.obolibrary.org/obo/GARD_0000987
http://purl.obolibrary.org/obo/GARD_0000987 EquivalentTo 'brachydactyly type E'
http://purl.obolibrary.org/obo/GARD_0000986
http://purl.obolibrary.org/obo/GARD_0000986 EquivalentTo 'brachydactyly type C'
http://purl.obolibrary.org/obo/GARD_0000985
http://purl.obolibrary.org/obo/GARD_0000985 EquivalentTo 'brachydactyly type B'
http://purl.obolibrary.org/obo/GARD_0009319
http://purl.obolibrary.org/obo/GARD_0009319 EquivalentTo 'myeloproliferative neoplasm'
http://purl.obolibrary.org/obo/GARD_0010307
http://purl.obolibrary.org/obo/GARD_0010307 EquivalentTo 'congenital disorder of glycosylation'
http://purl.obolibrary.org/obo/GARD_0009325
http://purl.obolibrary.org/obo/GARD_0009325 EquivalentTo 'extragonadal germ cell tumor'
http://purl.obolibrary.org/obo/GARD_0010300
http://purl.obolibrary.org/obo/GARD_0010300 EquivalentTo 'microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome'
http://purl.obolibrary.org/obo/GARD_0010302
http://purl.obolibrary.org/obo/GARD_0010302 EquivalentTo 'SERKAL syndrome'
http://www.ebi.ac.uk/efo/EFO_0003094
'ganglioglioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003094
http://purl.obolibrary.org/obo/SCTID_233958001
'peripheral ischemia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_233958001
http://purl.obolibrary.org/obo/SCTID_717016001
'Charcot-Marie-tooth disease type 2A1' EquivalentTo http://purl.obolibrary.org/obo/SCTID_717016001
http://purl.obolibrary.org/obo/SCTID_238627002
'ichthyosis, follicular' EquivalentTo http://purl.obolibrary.org/obo/SCTID_238627002
http://purl.obolibrary.org/obo/MESH_C536067
http://purl.obolibrary.org/obo/MESH_C536067 EquivalentTo 'hordnes engebretsen knudtson syndrome'
http://purl.obolibrary.org/obo/MESH_D061387
http://purl.obolibrary.org/obo/MESH_D061387 EquivalentTo 'pneumonia caused by chlamydia'
http://purl.obolibrary.org/obo/SCTID_74774004
'cold urticaria' EquivalentTo http://purl.obolibrary.org/obo/SCTID_74774004
http://purl.obolibrary.org/obo/MESH_C536033
http://purl.obolibrary.org/obo/MESH_C536033 EquivalentTo 'Hennekam-Beemer syndrome'
http://purl.obolibrary.org/obo/MESH_C536031
http://purl.obolibrary.org/obo/MESH_C536031 EquivalentTo 'massa casaer ceulemans syndrome'
http://purl.obolibrary.org/obo/SCTID_58606001
'rare genetic primary immunodeficiency' EquivalentTo http://purl.obolibrary.org/obo/SCTID_58606001
http://purl.obolibrary.org/obo/MESH_C536013
http://purl.obolibrary.org/obo/MESH_C536013 EquivalentTo 'Achard-Thiers syndrome'
http://www.orpha.net/ORDO/Orphanet_65279
'lymphocytic colitis' EquivalentTo http://www.orpha.net/ORDO/Orphanet_65279
http://purl.obolibrary.org/obo/SCTID_14077003
'pica disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_14077003
http://purl.obolibrary.org/obo/SCTID_92486005
'vulvar benign neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_92486005
http://purl.obolibrary.org/obo/SCTID_26117009
'diphtheritic myocarditis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_26117009
http://purl.obolibrary.org/obo/GARD_0009978
http://purl.obolibrary.org/obo/GARD_0009978 EquivalentTo 'spinocerebellar ataxia, X-linked 2'
http://purl.obolibrary.org/obo/GARD_0009977
http://purl.obolibrary.org/obo/GARD_0009977 EquivalentTo 'CAMOS syndrome'
http://purl.obolibrary.org/obo/GARD_0010955
http://purl.obolibrary.org/obo/GARD_0010955 EquivalentTo 'Noonan syndrome'
http://purl.obolibrary.org/obo/GARD_0009976
http://purl.obolibrary.org/obo/GARD_0009976 EquivalentTo 'spinocerebellar ataxia type 18'
http://purl.obolibrary.org/obo/GARD_0009975
http://purl.obolibrary.org/obo/GARD_0009975 EquivalentTo 'spinocerebellar ataxia type 31'
http://purl.obolibrary.org/obo/GARD_0010957
http://purl.obolibrary.org/obo/GARD_0010957 EquivalentTo 'IRIDA syndrome'
http://purl.obolibrary.org/obo/GARD_0009973
http://purl.obolibrary.org/obo/GARD_0009973 EquivalentTo 'splenic infarction'
http://purl.obolibrary.org/obo/GARD_0010959
http://purl.obolibrary.org/obo/GARD_0010959 EquivalentTo 'growth hormone secreting pituitary adenoma'
http://purl.obolibrary.org/obo/GARD_0009971
http://purl.obolibrary.org/obo/GARD_0009971 EquivalentTo 'autosomal recessive cerebellar ataxia-blindness-deafness syndrome'
http://purl.obolibrary.org/obo/GARD_0009970
http://purl.obolibrary.org/obo/GARD_0009970 EquivalentTo 'spinocerebellar ataxia type 4'
http://purl.obolibrary.org/obo/SCTID_39465007
'psychosocial short stature' EquivalentTo http://purl.obolibrary.org/obo/SCTID_39465007
http://purl.obolibrary.org/obo/SCTID_254022009
'isolated cloverleaf skull syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254022009
http://purl.obolibrary.org/obo/GARD_0009984
http://purl.obolibrary.org/obo/GARD_0009984 EquivalentTo 'Miles-Carpenter syndrome'
http://purl.obolibrary.org/obo/GARD_0010961
http://purl.obolibrary.org/obo/GARD_0010961 EquivalentTo 'collagenous gastritis'
http://purl.obolibrary.org/obo/GARD_0010965
http://purl.obolibrary.org/obo/GARD_0010965 EquivalentTo 'FGFR2-related bent bone dysplasia'
http://purl.obolibrary.org/obo/GARD_0009999
http://purl.obolibrary.org/obo/GARD_0009999 EquivalentTo 'spinocerebellar ataxia type 21'
http://purl.obolibrary.org/obo/GARD_0009998
http://purl.obolibrary.org/obo/GARD_0009998 EquivalentTo 'sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome'
http://purl.obolibrary.org/obo/GARD_0009997
http://purl.obolibrary.org/obo/GARD_0009997 EquivalentTo 'spinocerebellar ataxia type 20'
http://purl.obolibrary.org/obo/GARD_0009996
http://purl.obolibrary.org/obo/GARD_0009996 EquivalentTo 'spinocerebellar ataxia type 25'
http://purl.obolibrary.org/obo/GARD_0009995
http://purl.obolibrary.org/obo/GARD_0009995 EquivalentTo 'spinocerebellar ataxia type 26'
http://purl.obolibrary.org/obo/GARD_0009993
http://purl.obolibrary.org/obo/GARD_0009993 EquivalentTo 'riboflavin transporter deficiency'
http://purl.obolibrary.org/obo/GARD_0009991
http://purl.obolibrary.org/obo/GARD_0009991 EquivalentTo 'Ehlers-Danlos syndrome progeroid type'
http://purl.obolibrary.org/obo/GARD_0010972
http://purl.obolibrary.org/obo/GARD_0010972 EquivalentTo 'distal monosomy 17q'
http://purl.obolibrary.org/obo/GARD_0010975
http://purl.obolibrary.org/obo/GARD_0010975 EquivalentTo 'familial hemiplegic migraine'
http://purl.obolibrary.org/obo/MESH_C536150
http://purl.obolibrary.org/obo/MESH_C536150 EquivalentTo 'multiple self-healing squamous epithelioma'
http://purl.obolibrary.org/obo/GARD_0010989
http://purl.obolibrary.org/obo/GARD_0010989 EquivalentTo 'mandibular hypoplasia-deafness-progeroid syndrome'
http://purl.obolibrary.org/obo/GARD_0010981
http://purl.obolibrary.org/obo/GARD_0010981 EquivalentTo 'hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia'
http://purl.obolibrary.org/obo/GARD_0010980
http://purl.obolibrary.org/obo/GARD_0010980 EquivalentTo 'autoimmune polyendocrinopathy type 3'
http://purl.obolibrary.org/obo/GARD_0010984
http://purl.obolibrary.org/obo/GARD_0010984 EquivalentTo 'mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency'
http://purl.obolibrary.org/obo/GARD_0010986
http://purl.obolibrary.org/obo/GARD_0010986 EquivalentTo 'granulomatous slack skin'
http://purl.obolibrary.org/obo/GARD_0009934
http://purl.obolibrary.org/obo/GARD_0009934 EquivalentTo 'autosomal dominant nonsyndromic deafness 53'
http://purl.obolibrary.org/obo/GARD_0010912
http://purl.obolibrary.org/obo/GARD_0010912 EquivalentTo 'fournier gangrene'
http://purl.obolibrary.org/obo/GARD_0009933
http://purl.obolibrary.org/obo/GARD_0009933 EquivalentTo 'autosomal dominant nonsyndromic deafness 3A'
http://purl.obolibrary.org/obo/GARD_0010911
http://purl.obolibrary.org/obo/GARD_0010911 EquivalentTo 'autoimmune pancreatitis'
http://purl.obolibrary.org/obo/GARD_0009932
http://purl.obolibrary.org/obo/GARD_0009932 EquivalentTo 'exercise-induced hyperinsulinism'
http://purl.obolibrary.org/obo/GARD_0010917
http://purl.obolibrary.org/obo/GARD_0010917 EquivalentTo 'hypomyelinating leukodystrophy 6'
http://purl.obolibrary.org/obo/GARD_0010910
http://purl.obolibrary.org/obo/GARD_0010910 EquivalentTo 'medial condensing osteitis of the clavicle'
http://purl.obolibrary.org/obo/GARD_0009936
http://purl.obolibrary.org/obo/GARD_0009936 EquivalentTo 'hypohidrotic ectodermal dysplasia with immunodeficiency'
http://purl.obolibrary.org/obo/GARD_0009935
http://purl.obolibrary.org/obo/GARD_0009935 EquivalentTo 'autosomal recessive nonsyndromic deafness 47'
http://purl.obolibrary.org/obo/GARD_0009944
http://purl.obolibrary.org/obo/GARD_0009944 EquivalentTo 'X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2'
http://purl.obolibrary.org/obo/GARD_0010925
http://purl.obolibrary.org/obo/GARD_0010925 EquivalentTo 'la Crosse encephalitis'
http://purl.obolibrary.org/obo/GARD_0009940
http://purl.obolibrary.org/obo/GARD_0009940 EquivalentTo 'CEDNIK syndrome'
http://purl.obolibrary.org/obo/GARD_0010929
http://purl.obolibrary.org/obo/GARD_0010929 EquivalentTo 'nodular regenerative hyperplasia of the liver'
http://purl.obolibrary.org/obo/SCTID_721756002
'Klebsiella infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_721756002
http://purl.obolibrary.org/obo/GARD_0010934
http://purl.obolibrary.org/obo/GARD_0010934 EquivalentTo 'monocytopenia with susceptibility to infections'
http://purl.obolibrary.org/obo/GARD_0010936
http://purl.obolibrary.org/obo/GARD_0010936 EquivalentTo 'chromosome 17q23.1-q23.2 deletion syndrome'
http://purl.obolibrary.org/obo/GARD_0009953
http://purl.obolibrary.org/obo/GARD_0009953 EquivalentTo 'oligodendroglioma'
http://purl.obolibrary.org/obo/GARD_0009952
http://purl.obolibrary.org/obo/GARD_0009952 EquivalentTo 'congenital primary aphakia'
http://purl.obolibrary.org/obo/GARD_0010938
http://purl.obolibrary.org/obo/GARD_0010938 EquivalentTo 'microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome'
http://purl.obolibrary.org/obo/GARD_0009951
http://purl.obolibrary.org/obo/GARD_0009951 EquivalentTo 'spinocerebellar ataxia type 28'
http://purl.obolibrary.org/obo/GARD_0010937
http://purl.obolibrary.org/obo/GARD_0010937 EquivalentTo 'congenital generalized lipodystrophy type 4'
http://purl.obolibrary.org/obo/GARD_0009950
http://purl.obolibrary.org/obo/GARD_0009950 EquivalentTo 'spinocerebellar ataxia type 23'
http://purl.obolibrary.org/obo/GARD_0010939
http://purl.obolibrary.org/obo/GARD_0010939 EquivalentTo 'CLOVES syndrome'
http://purl.obolibrary.org/obo/GARD_0009959
http://purl.obolibrary.org/obo/GARD_0009959 EquivalentTo 'West-Nile encephalitis'
http://purl.obolibrary.org/obo/GARD_0010945
http://purl.obolibrary.org/obo/GARD_0010945 EquivalentTo 'short stature-optic atrophy-Pelger-HuC+t anomaly syndrome'
http://purl.obolibrary.org/obo/GARD_0010944
http://purl.obolibrary.org/obo/GARD_0010944 EquivalentTo 'COG6-CGD'
http://purl.obolibrary.org/obo/GARD_0009964
http://purl.obolibrary.org/obo/GARD_0009964 EquivalentTo 'glycogen storage disease due to phosphoglycerate mutase deficiency'
http://purl.obolibrary.org/obo/GARD_0010946
http://purl.obolibrary.org/obo/GARD_0010946 EquivalentTo 'corticosteroid-sensitive aseptic abscess syndrome'
http://purl.obolibrary.org/obo/GARD_0009963
http://purl.obolibrary.org/obo/GARD_0009963 EquivalentTo 'spinocerebellar ataxia type 27'
http://purl.obolibrary.org/obo/GARD_0010949
http://purl.obolibrary.org/obo/GARD_0010949 EquivalentTo 'non-24-hour sleep-wake syndrome'
http://purl.obolibrary.org/obo/GARD_0009961
http://purl.obolibrary.org/obo/GARD_0009961 EquivalentTo 'nodular malignant melanoma'
http://purl.obolibrary.org/obo/GARD_0010941
http://purl.obolibrary.org/obo/GARD_0010941 EquivalentTo 'anterior uveitis (disease)'
http://purl.obolibrary.org/obo/MESH_C536107
http://purl.obolibrary.org/obo/MESH_C536107 EquivalentTo 'Ogden syndrome'
http://purl.obolibrary.org/obo/SCTID_80813006
'hemophilic arthropathy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_80813006
http://purl.obolibrary.org/obo/MESH_C536147
http://purl.obolibrary.org/obo/MESH_C536147 EquivalentTo 'mehta lewis patton syndrome'
http://purl.obolibrary.org/obo/NCIT_C124851
'congenital analbuminemia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C124851
http://purl.obolibrary.org/obo/GARD_0010992
http://purl.obolibrary.org/obo/GARD_0010992 EquivalentTo 'spastic ataxia 4'
http://purl.obolibrary.org/obo/GARD_0010996
http://purl.obolibrary.org/obo/GARD_0010996 EquivalentTo 'chromosome 17p13.1 deletion syndrome'
http://purl.obolibrary.org/obo/GARD_0010995
http://purl.obolibrary.org/obo/GARD_0010995 EquivalentTo 'infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly'
http://purl.obolibrary.org/obo/GARD_0010997
http://purl.obolibrary.org/obo/GARD_0010997 EquivalentTo 'aneurysm-osteoarthritis syndrome'
http://purl.obolibrary.org/obo/MESH_D012224
http://purl.obolibrary.org/obo/MESH_D012224 EquivalentTo 'rhinophyma'
http://purl.obolibrary.org/obo/NCIT_C124838
'OFC1' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C124838
http://purl.obolibrary.org/obo/NCIT_C124840
'Shprintzen-Goldberg syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C124840
http://purl.obolibrary.org/obo/NCBITaxon_630
http://purl.obolibrary.org/obo/NCBITaxon_633
http://purl.obolibrary.org/obo/MONDO_0043904
leishmaniasis, diffuse cutaneous
'leishmaniasis, diffuse cutaneous' EquivalentTo http://purl.obolibrary.org/obo/SCTID_38573008
'leishmaniasis, diffuse cutaneous' SubClassOf 'cutaneous leishmaniasis'
http://purl.obolibrary.org/obo/MESH_D016774 EquivalentTo 'leishmaniasis, diffuse cutaneous'
http://purl.obolibrary.org/obo/MONDO_0043905
pneumonitis
'pneumonitis' EquivalentTo 'disease or disorder' and ('disease HAS inflammation site' some http://purl.obolibrary.org/obo/UBERON_0008946)
'pneumonitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_205237003
'pneumonitis' SubClassOf 'lung disease'
'pneumonitis' SubClassOf 'disease HAS inflammation site' some http://purl.obolibrary.org/obo/UBERON_0008946
'pneumonitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C113159
'pneumonitis' SubClassOf 'inflammatory disease'
http://purl.obolibrary.org/obo/SCTID_56177003
'cubital tunnel syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_56177003
http://purl.obolibrary.org/obo/MONDO_0043919
radiation pneumonitis
'radiation pneumonitis' SubClassOf 'radiation-induced disorder'
'radiation pneumonitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_84004001
http://purl.obolibrary.org/obo/MESH_D017564 EquivalentTo 'radiation pneumonitis'
'radiation pneumonitis' SubClassOf 'interstitial lung disease'
'radiation pneumonitis' SubClassOf 'pneumonitis'
'radiation pneumonitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008517
'radiation pneumonitis' EquivalentTo 'pneumonitis' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/ECTO_0000002)
http://purl.obolibrary.org/obo/NCIT_C124568
'agnathia-otocephaly complex' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C124568
http://purl.obolibrary.org/obo/MONDO_0043923
lichen planus, oral
'lichen planus, oral' SubClassOf 'mouth disease'
http://purl.obolibrary.org/obo/MESH_D017676 EquivalentTo 'lichen planus, oral'
'lichen planus, oral' SubClassOf 'lichen planus'
'lichen planus, oral' EquivalentTo http://purl.obolibrary.org/obo/SCTID_235049008
'lichen planus, oral' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001415
'lichen planus, oral' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C7406
http://purl.obolibrary.org/obo/MESH_D012640
http://purl.obolibrary.org/obo/MESH_D012640 EquivalentTo 'visual epilepsy'
http://purl.obolibrary.org/obo/MONDO_0043975
autonomic dysreflexia
'autonomic dysreflexia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_129618003
http://purl.obolibrary.org/obo/MESH_D020211 EquivalentTo 'autonomic dysreflexia'
'autonomic dysreflexia' SubClassOf 'autonomic nervous system disease'
http://purl.obolibrary.org/obo/MONDO_0043982
cubital tunnel syndrome
'cubital tunnel syndrome' SubClassOf 'ulnar neuropathy'
'cubital tunnel syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001363
http://purl.obolibrary.org/obo/MESH_D020430 EquivalentTo 'cubital tunnel syndrome'
'cubital tunnel syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_56177003
http://purl.obolibrary.org/obo/MONDO_0043985
central nervous system lupus
'central nervous system lupus' SubClassOf 'autoimmune disease of central nervous system'
'central nervous system lupus' SubClassOf 'autoimmune vasculitis'
'central nervous system lupus' SubClassOf 'systemic lupus erythematosus (disease)'
'central nervous system lupus' SubClassOf 'meningoencephalitis'
'central nervous system lupus' SubClassOf 'central nervous system vasculitis'
'central nervous system lupus' SubClassOf 'rare rheumatologic disease'
'central nervous system lupus' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C116919
http://purl.obolibrary.org/obo/MESH_D020945 EquivalentTo 'central nervous system lupus'
'central nervous system lupus' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001453
http://purl.obolibrary.org/obo/MONDO_0043988
zoster sine herpete
'zoster sine herpete' SubClassOf 'herpes zoster'
'zoster sine herpete' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001827
http://purl.obolibrary.org/obo/MESH_D031368 EquivalentTo 'zoster sine herpete'
'zoster sine herpete' EquivalentTo http://purl.obolibrary.org/obo/SCTID_449783002
http://purl.obolibrary.org/obo/SCTID_399088004
'peroneal nerve paralysis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_399088004
http://purl.obolibrary.org/obo/GARD_0009909
http://purl.obolibrary.org/obo/GARD_0009909 EquivalentTo 'Sheldon-hall syndrome'
http://purl.obolibrary.org/obo/GARD_0009907
http://purl.obolibrary.org/obo/GARD_0009907 EquivalentTo 'amyopathic dermatomyositis'
http://purl.obolibrary.org/obo/GARD_0009904
http://purl.obolibrary.org/obo/GARD_0009904 EquivalentTo 'osteosclerosis-ichthyosis-premature ovarian failure syndrome'
http://purl.obolibrary.org/obo/GARD_0009903
http://purl.obolibrary.org/obo/GARD_0009903 EquivalentTo 'polysyndactyly'
http://purl.obolibrary.org/obo/GARD_0009911
http://purl.obolibrary.org/obo/GARD_0009911 EquivalentTo 'GINGF3'
http://purl.obolibrary.org/obo/MONDO_0043959
pseudolymphoma
'pseudolymphoma' SubClassOf 'lymphatic system disease'
'pseudolymphoma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3825
http://purl.obolibrary.org/obo/MESH_D019310 EquivalentTo 'pseudolymphoma'
'pseudolymphoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001414
'pseudolymphoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_19750001
http://purl.obolibrary.org/obo/MONDO_0043953
burkholderia infectious disease
http://purl.obolibrary.org/obo/MESH_D019121 EquivalentTo 'burkholderia infectious disease'
'burkholderia infectious disease' SubClassOf 'realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_32008
'burkholderia infectious disease' SubClassOf 'gram-negative bacterial infections'
'burkholderia infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_721736003
'burkholderia infectious disease' EquivalentTo 'disease or disorder' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_32008)
http://purl.obolibrary.org/obo/MESH_D012610
http://purl.obolibrary.org/obo/MESH_D012610 EquivalentTo 'screw worm infectious disease'
http://purl.obolibrary.org/obo/GARD_0010909
http://purl.obolibrary.org/obo/GARD_0010909 EquivalentTo 'adult-onset foveomacular vitelliform dystrophy'
http://purl.obolibrary.org/obo/GARD_0009919
http://purl.obolibrary.org/obo/GARD_0009919 EquivalentTo 'autosomal recessive nonsyndromic deafness 55'
http://purl.obolibrary.org/obo/GARD_0009918
http://purl.obolibrary.org/obo/GARD_0009918 EquivalentTo 'autosomal recessive nonsyndromic deafness 51'
http://purl.obolibrary.org/obo/GARD_0009915
http://purl.obolibrary.org/obo/GARD_0009915 EquivalentTo 'hypoglycemia, leucine-induced'
http://purl.obolibrary.org/obo/GARD_0009914
http://purl.obolibrary.org/obo/GARD_0009914 EquivalentTo 'glomerulopathy with fibronectin deposits 2'
http://purl.obolibrary.org/obo/GARD_0009913
http://purl.obolibrary.org/obo/GARD_0009913 EquivalentTo 'properdin deficiency'
http://purl.obolibrary.org/obo/GARD_0009921
http://purl.obolibrary.org/obo/GARD_0009921 EquivalentTo 'Nasu-Hakola disease'
http://purl.obolibrary.org/obo/GARD_0010903
http://purl.obolibrary.org/obo/GARD_0010903 EquivalentTo 'brachyolmia'
http://purl.obolibrary.org/obo/GARD_0010902
http://purl.obolibrary.org/obo/GARD_0010902 EquivalentTo 'neuroacanthocytosis'
http://purl.obolibrary.org/obo/MONDO_0043969
nocturnal paroxysmal dystonia
'nocturnal paroxysmal dystonia' SubClassOf 'dystonic disorder'
http://purl.obolibrary.org/obo/MESH_D020183 EquivalentTo 'nocturnal paroxysmal dystonia'
'nocturnal paroxysmal dystonia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_230500006
'nocturnal paroxysmal dystonia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001772
'nocturnal paroxysmal dystonia' SubClassOf 'sleep wake disorder'
http://purl.obolibrary.org/obo/GARD_0010907
http://purl.obolibrary.org/obo/GARD_0010907 EquivalentTo 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia'
http://purl.obolibrary.org/obo/MONDO_0043994
acute cholecystitis
'acute cholecystitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35152
http://purl.obolibrary.org/obo/MESH_D041881 EquivalentTo 'acute cholecystitis'
'acute cholecystitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_65275009
'acute cholecystitis' SubClassOf 'cholecystitis'
http://purl.obolibrary.org/obo/SCTID_717329009
'liver inflammatory myofibroblastic tumor' EquivalentTo http://purl.obolibrary.org/obo/SCTID_717329009
http://purl.obolibrary.org/obo/GARD_0009849
http://purl.obolibrary.org/obo/GARD_0009849 EquivalentTo 'Goldberg-Shprintzen megacolon syndrome'
http://purl.obolibrary.org/obo/GARD_0009848
http://purl.obolibrary.org/obo/GARD_0009848 EquivalentTo 'congenital brain dysgenesis due to glutamine synthetase deficiency'
http://purl.obolibrary.org/obo/GARD_0009847
http://purl.obolibrary.org/obo/GARD_0009847 EquivalentTo 'heart-hand syndrome type 2'
http://purl.obolibrary.org/obo/GARD_0009857
http://purl.obolibrary.org/obo/GARD_0009857 EquivalentTo 'inflammatory bowel disease 1'
http://purl.obolibrary.org/obo/GARD_0009852
http://purl.obolibrary.org/obo/GARD_0009852 EquivalentTo 'neonatal diabetes mellitus'
http://purl.obolibrary.org/obo/GARD_0009851
http://purl.obolibrary.org/obo/GARD_0009851 EquivalentTo 'hereditary episodic ataxia'
http://purl.obolibrary.org/obo/GARD_0009850
http://purl.obolibrary.org/obo/GARD_0009850 EquivalentTo 'omphalocele syndrome, Shprintzen-Goldberg type'
http://purl.obolibrary.org/obo/GARD_0010831
http://purl.obolibrary.org/obo/GARD_0010831 EquivalentTo 'partial duplication of the long arm of chromosome 1'
http://purl.obolibrary.org/obo/GARD_0010830
http://purl.obolibrary.org/obo/GARD_0010830 EquivalentTo 'nevus of Ito'
http://purl.obolibrary.org/obo/GARD_0009867
http://purl.obolibrary.org/obo/GARD_0009867 EquivalentTo 'spinocerebellar ataxia type 14'
http://purl.obolibrary.org/obo/GARD_0009863
http://purl.obolibrary.org/obo/GARD_0009863 EquivalentTo 'calcaneonavicular coalition'
http://purl.obolibrary.org/obo/GARD_0009860
http://purl.obolibrary.org/obo/GARD_0009860 EquivalentTo 'amelogenesis imperfecta type 1G'
http://purl.obolibrary.org/obo/GARD_0009873
http://purl.obolibrary.org/obo/GARD_0009873 EquivalentTo 'lateral meningocele syndrome'
http://purl.obolibrary.org/obo/GARD_0009872
http://purl.obolibrary.org/obo/GARD_0009872 EquivalentTo 'pyridoxine-responsive sideroblastic anemia'
http://purl.obolibrary.org/obo/GARD_0010867
http://purl.obolibrary.org/obo/GARD_0010867 EquivalentTo 'familial multiple trichoepithelioma'
http://purl.obolibrary.org/obo/GARD_0009887
http://purl.obolibrary.org/obo/GARD_0009887 EquivalentTo 'benign concentric annular macular dystrophy'
http://purl.obolibrary.org/obo/GARD_0009884
http://purl.obolibrary.org/obo/GARD_0009884 EquivalentTo 'juvenile myelomonocytic leukemia'
http://purl.obolibrary.org/obo/GARD_0010860
http://purl.obolibrary.org/obo/GARD_0010860 EquivalentTo 'monosomy 21'
http://purl.obolibrary.org/obo/GARD_0010866
http://purl.obolibrary.org/obo/GARD_0010866 EquivalentTo 'chromosome 18q deletion syndrome'
http://purl.obolibrary.org/obo/GARD_0009808
http://purl.obolibrary.org/obo/GARD_0009808 EquivalentTo 'pilocytic astrocytoma'
http://purl.obolibrary.org/obo/SCTID_703406006
'tricho-hepato-enteric syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_703406006
http://purl.obolibrary.org/obo/GARD_0009804
http://purl.obolibrary.org/obo/GARD_0009804 EquivalentTo 'intrahepatic cholestasis'
http://purl.obolibrary.org/obo/GARD_0009803
http://purl.obolibrary.org/obo/GARD_0009803 EquivalentTo 'cholestasis, progressive familial intrahepatic, 4'
http://purl.obolibrary.org/obo/GARD_0009813
http://purl.obolibrary.org/obo/GARD_0009813 EquivalentTo 'congenital bile acid synthesis defect 1'
http://purl.obolibrary.org/obo/GARD_0009812
http://purl.obolibrary.org/obo/GARD_0009812 EquivalentTo 'T-cell large granular lymphocyte leukemia'
http://purl.obolibrary.org/obo/SCTID_197585004
'acute diffuse glomerulonephritis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_197585004
http://purl.obolibrary.org/obo/GARD_0009817
http://purl.obolibrary.org/obo/GARD_0009817 EquivalentTo 'dopa-responsive dystonia'
http://purl.obolibrary.org/obo/SCTID_716862002
'Proteus-like syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_716862002
http://purl.obolibrary.org/obo/GARD_0009814
http://purl.obolibrary.org/obo/GARD_0009814 EquivalentTo 'Tukel syndrome'
http://purl.obolibrary.org/obo/GARD_0010804
http://purl.obolibrary.org/obo/GARD_0010804 EquivalentTo 'metaplastic breast carcinoma'
http://purl.obolibrary.org/obo/GARD_0009821
http://purl.obolibrary.org/obo/GARD_0009821 EquivalentTo 'patterned macular dystrophy 1'
http://purl.obolibrary.org/obo/GARD_0010806
http://purl.obolibrary.org/obo/GARD_0010806 EquivalentTo 'early infantile epileptic encephalopathy 9'
http://purl.obolibrary.org/obo/SCTID_277605001
'tumor lysis syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_277605001
http://purl.obolibrary.org/obo/GARD_0009829
http://purl.obolibrary.org/obo/GARD_0009829 EquivalentTo 'congenital disorder of glycosylation type 1C'
http://purl.obolibrary.org/obo/GARD_0009828
http://purl.obolibrary.org/obo/GARD_0009828 EquivalentTo 'MGAT2-CDG'
http://purl.obolibrary.org/obo/GARD_0009827
http://purl.obolibrary.org/obo/GARD_0009827 EquivalentTo 'ALG3-CDG'
http://purl.obolibrary.org/obo/GARD_0009826
http://purl.obolibrary.org/obo/GARD_0009826 EquivalentTo 'PMM2-CDG'
http://purl.obolibrary.org/obo/GARD_0010813
http://purl.obolibrary.org/obo/GARD_0010813 EquivalentTo 'chromosome 1q21.1 deletion syndrome'
http://purl.obolibrary.org/obo/GARD_0009834
http://purl.obolibrary.org/obo/GARD_0009834 EquivalentTo 'ALG8-CDG'
http://purl.obolibrary.org/obo/GARD_0009833
http://purl.obolibrary.org/obo/GARD_0009833 EquivalentTo 'ALG12-CDG'
http://purl.obolibrary.org/obo/GARD_0010815
http://purl.obolibrary.org/obo/GARD_0010815 EquivalentTo 'thrombophilia due to thrombin defect'
http://purl.obolibrary.org/obo/GARD_0009832
http://purl.obolibrary.org/obo/GARD_0009832 EquivalentTo 'MPDU1-CDG'
http://purl.obolibrary.org/obo/GARD_0009831
http://purl.obolibrary.org/obo/GARD_0009831 EquivalentTo 'congenital disorder of glycosylation type 1E'
http://purl.obolibrary.org/obo/GARD_0010817
http://purl.obolibrary.org/obo/GARD_0010817 EquivalentTo 'hereditary spastic paraplegia 31'
http://purl.obolibrary.org/obo/GARD_0009830
http://purl.obolibrary.org/obo/GARD_0009830 EquivalentTo 'MPI-CDG'
http://purl.obolibrary.org/obo/GARD_0010818
http://purl.obolibrary.org/obo/GARD_0010818 EquivalentTo 'combined malonic and methylmalonic acidemia'
http://purl.obolibrary.org/obo/GARD_0009839
http://purl.obolibrary.org/obo/GARD_0009839 EquivalentTo 'ALG9-CDG'
http://purl.obolibrary.org/obo/GARD_0009838
http://purl.obolibrary.org/obo/GARD_0009838 EquivalentTo 'ALG1-CDG'
http://purl.obolibrary.org/obo/GARD_0009837
http://purl.obolibrary.org/obo/GARD_0009837 EquivalentTo 'DPAGT1-CDG'
http://purl.obolibrary.org/obo/GARD_0009836
http://purl.obolibrary.org/obo/GARD_0009836 EquivalentTo 'ALG2-CDG'
http://purl.obolibrary.org/obo/GARD_0010823
http://purl.obolibrary.org/obo/GARD_0010823 EquivalentTo 'obesity due to pro-opiomelanocortin deficiency'
http://purl.obolibrary.org/obo/GARD_0009842
http://purl.obolibrary.org/obo/GARD_0009842 EquivalentTo 'COG7-CDG'
http://purl.obolibrary.org/obo/GARD_0010828
http://purl.obolibrary.org/obo/GARD_0010828 EquivalentTo 'familial hypocalciuric hypercalcemia'
http://purl.obolibrary.org/obo/GARD_0009841
http://purl.obolibrary.org/obo/GARD_0009841 EquivalentTo 'B4GALT1-CDG'
http://purl.obolibrary.org/obo/GARD_0010879
http://purl.obolibrary.org/obo/GARD_0010879 EquivalentTo 'hyperphosphatemic familial tumoral calcinosis'
http://purl.obolibrary.org/obo/GARD_0009899
http://purl.obolibrary.org/obo/GARD_0009899 EquivalentTo 'lymphoma, Hodgkin, X-linked pseudoautosomal'
http://purl.obolibrary.org/obo/GARD_0009898
http://purl.obolibrary.org/obo/GARD_0009898 EquivalentTo 'posterior column ataxia-retinitis pigmentosa syndrome'
http://purl.obolibrary.org/obo/GARD_0009897
http://purl.obolibrary.org/obo/GARD_0009897 EquivalentTo 'optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy'
http://purl.obolibrary.org/obo/GARD_0009892
http://purl.obolibrary.org/obo/GARD_0009892 EquivalentTo 'cataract 18'
http://purl.obolibrary.org/obo/GARD_0010870
http://purl.obolibrary.org/obo/GARD_0010870 EquivalentTo 'free sialic acid storage disease'
http://purl.obolibrary.org/obo/GARD_0009890
http://purl.obolibrary.org/obo/GARD_0009890 EquivalentTo 'autosomal dominant optic atrophy, classic form'
http://purl.obolibrary.org/obo/GARD_0010872
http://purl.obolibrary.org/obo/GARD_0010872 EquivalentTo 'malignant peripheral nerve sheath tumor'
http://purl.obolibrary.org/obo/MESH_D012593
http://purl.obolibrary.org/obo/MESH_D012593 EquivalentTo 'sclerema neonatorum'
http://purl.obolibrary.org/obo/GARD_0010876
http://purl.obolibrary.org/obo/GARD_0010876 EquivalentTo 'congenital radioulnar synostosis'
http://purl.obolibrary.org/obo/GARD_0010891
http://purl.obolibrary.org/obo/GARD_0010891 EquivalentTo 'GM1 gangliosidosis'
http://purl.obolibrary.org/obo/NCBITaxon_672
http://purl.obolibrary.org/obo/GARD_0010889
http://purl.obolibrary.org/obo/GARD_0010889 EquivalentTo 'autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome'
http://purl.obolibrary.org/obo/GARD_0010887
http://purl.obolibrary.org/obo/GARD_0010887 EquivalentTo 'familial ossifying fibroma'
http://purl.obolibrary.org/obo/GARD_0010892
http://purl.obolibrary.org/obo/GARD_0010892 EquivalentTo 'blepharophimosis-intellectual disability syndrome'
http://purl.obolibrary.org/obo/GARD_0010895
http://purl.obolibrary.org/obo/GARD_0010895 EquivalentTo 'Aicardi-Goutieres syndrome 3'
http://purl.obolibrary.org/obo/GARD_0010894
http://purl.obolibrary.org/obo/GARD_0010894 EquivalentTo 'Aicardi-Goutieres syndrome 2'
http://purl.obolibrary.org/obo/GARD_0010896
http://purl.obolibrary.org/obo/GARD_0010896 EquivalentTo 'Aicardi-Goutieres syndrome 4'
http://purl.obolibrary.org/obo/GARD_0010899
http://purl.obolibrary.org/obo/GARD_0010899 EquivalentTo 'inclusion body myopathy with Paget disease of bone and frontotemporal dementia'
http://purl.obolibrary.org/obo/GARD_0010898
http://purl.obolibrary.org/obo/GARD_0010898 EquivalentTo 'adult pure red cell aplasia'
http://purl.obolibrary.org/obo/MESH_D012515
http://purl.obolibrary.org/obo/MESH_D012515 EquivalentTo 'mast cell sarcoma'
http://purl.obolibrary.org/obo/SCTID_19750001
'pseudolymphoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_19750001
http://purl.obolibrary.org/obo/SCTID_75478009
'poisoning' EquivalentTo http://purl.obolibrary.org/obo/SCTID_75478009
http://purl.obolibrary.org/obo/MONDO_0043862
voice disorders
'voice disorders' SubClassOf 'disease disrupts' some http://purl.obolibrary.org/obo/GO_0071625
'voice disorders' EquivalentTo 'disease or disorder' and ('disease disrupts' some http://purl.obolibrary.org/obo/GO_0071625)
'voice disorders' EquivalentTo http://purl.obolibrary.org/obo/SCTID_71941009
'voice disorders' SubClassOf 'laryngeal disease'
http://purl.obolibrary.org/obo/MESH_D014832 EquivalentTo 'voice disorders'
'voice disorders' SubClassOf 'disease disrupting biological or physiological process'
'voice disorders' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3441
http://purl.obolibrary.org/obo/MONDO_0043836
tuberculosis, spinal
'tuberculosis, spinal' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35087
'tuberculosis, spinal' SubClassOf 'vertebral column disease'
'tuberculosis, spinal' EquivalentTo http://purl.obolibrary.org/obo/SCTID_35984006
'tuberculosis, spinal' SubClassOf 'skeletal tuberculosis'
http://purl.obolibrary.org/obo/MESH_D014399 EquivalentTo 'tuberculosis, spinal'
'tuberculosis, spinal' EquivalentTo 'tuberculosis' and ('disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0001130)
http://purl.obolibrary.org/obo/MONDO_0043839
ulcer
http://purl.obolibrary.org/obo/MESH_D014456 EquivalentTo 'ulcer'
http://purl.obolibrary.org/obo/MONDO_0043895
ankle injury
'ankle injury' SubClassOf 'injury'
'ankle injury' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001832
'ankle injury' SubClassOf 'disorder of anatomical region'
'ankle injury' EquivalentTo 'injury' and ('disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0004454)
'ankle injury' SubClassOf 'disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0004454
'ankle injury' EquivalentTo http://purl.obolibrary.org/obo/SCTID_125603006
http://purl.obolibrary.org/obo/MESH_D016512 EquivalentTo 'ankle injury'
http://purl.obolibrary.org/obo/MONDO_0043892
prosthesis-related infectious disease
http://purl.obolibrary.org/obo/MESH_D016459 EquivalentTo 'prosthesis-related infectious disease'
'prosthesis-related infectious disease' SubClassOf 'infectious disease'
'prosthesis-related infectious disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1002021
'prosthesis-related infectious disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C79705
http://purl.obolibrary.org/obo/SCTID_126909004
'corpus uteri neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_126909004
http://purl.obolibrary.org/obo/MONDO_0043875
tumor lysis syndrome
'tumor lysis syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_277605001
http://purl.obolibrary.org/obo/MESH_D015275 EquivalentTo 'tumor lysis syndrome'
'tumor lysis syndrome' SubClassOf 'lymphoproliferative syndrome'
'tumor lysis syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C3425
'tumor lysis syndrome' SubClassOf 'inborn errors of metabolism'
http://purl.obolibrary.org/obo/MONDO_0043878
hereditary optic atrophy
'hereditary optic atrophy' SubClassOf 'inherited neurodegenerative disorder'
'hereditary optic atrophy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C34864
'hereditary optic atrophy' EquivalentTo 'optic atrophy' and ('has modifier' some 'genetic and inherited')
http://purl.obolibrary.org/obo/MESH_D015418 EquivalentTo 'hereditary optic atrophy'
'hereditary optic atrophy' SubClassOf 'primary optic atrophy'
'hereditary optic atrophy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_26360005
http://purl.obolibrary.org/obo/MONDO_0043885
eye infectious disease
'eye infectious disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C45372
http://purl.obolibrary.org/obo/MESH_D015817 EquivalentTo 'eye infectious disease'
'eye infectious disease' SubClassOf 'infectious disease of the nervous system'
'eye infectious disease' EquivalentTo 'infectious disease' and ('disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0000970)
'eye infectious disease' SubClassOf 'rare eye disease'
'eye infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_128351009
http://purl.obolibrary.org/obo/MONDO_0043881
obsolete acute eosinophilic leukemia
http://purl.obolibrary.org/obo/GARD_0009729
http://purl.obolibrary.org/obo/GARD_0009729 EquivalentTo 'hereditary spastic paraplegia 29'
http://purl.obolibrary.org/obo/GARD_0009726
http://purl.obolibrary.org/obo/GARD_0009726 EquivalentTo 'autosomal dominant nonsyndromic deafness 17'
http://purl.obolibrary.org/obo/GARD_0009736
http://purl.obolibrary.org/obo/GARD_0009736 EquivalentTo 'autosomal recessive congenital ichthyosis 2'
http://purl.obolibrary.org/obo/GARD_0010716
http://purl.obolibrary.org/obo/GARD_0010716 EquivalentTo 'HSD10 disease'
http://purl.obolibrary.org/obo/GARD_0009733
http://purl.obolibrary.org/obo/GARD_0009733 EquivalentTo 'autosomal recessive congenital ichthyosis 4A'
http://purl.obolibrary.org/obo/GARD_0009732
http://purl.obolibrary.org/obo/GARD_0009732 EquivalentTo 'epithelial basement membrane dystrophy'
http://purl.obolibrary.org/obo/GARD_0010718
http://purl.obolibrary.org/obo/GARD_0010718 EquivalentTo 'Heinz body anemia'
http://purl.obolibrary.org/obo/GARD_0010717
http://purl.obolibrary.org/obo/GARD_0010717 EquivalentTo 'hydroxyprolinemia (disease)'
http://purl.obolibrary.org/obo/GARD_0010719
http://purl.obolibrary.org/obo/GARD_0010719 EquivalentTo 'Noonan syndrome-like disorder with loose anagen hair'
http://purl.obolibrary.org/obo/GARD_0010712
http://purl.obolibrary.org/obo/GARD_0010712 EquivalentTo 'progressive transformation of germinal centers'
http://purl.obolibrary.org/obo/GARD_0010727
http://purl.obolibrary.org/obo/GARD_0010727 EquivalentTo 'Koolen de Vries syndrome'
http://purl.obolibrary.org/obo/GARD_0009742
http://purl.obolibrary.org/obo/GARD_0009742 EquivalentTo 'ankylostomiasis'
http://purl.obolibrary.org/obo/GARD_0009740
http://purl.obolibrary.org/obo/GARD_0009740 EquivalentTo 'familial atrial fibrillation'
http://purl.obolibrary.org/obo/GO_0006885
http://purl.obolibrary.org/obo/GARD_0009749
http://purl.obolibrary.org/obo/GARD_0009749 EquivalentTo 'limited systemic sclerosis'
http://purl.obolibrary.org/obo/GARD_0009748
http://purl.obolibrary.org/obo/GARD_0009748 EquivalentTo 'systemic sclerosis'
http://purl.obolibrary.org/obo/GARD_0009758
http://purl.obolibrary.org/obo/GARD_0009758 EquivalentTo 'familial hypocalciuric hypercalcemia 2'
http://purl.obolibrary.org/obo/GARD_0010739
http://purl.obolibrary.org/obo/GARD_0010739 EquivalentTo 'neuronal ceroid lipofuscinosis'
http://purl.obolibrary.org/obo/GARD_0010730
http://purl.obolibrary.org/obo/GARD_0010730 EquivalentTo 'pyridoxal phosphate-responsive seizures'
http://purl.obolibrary.org/obo/GARD_0010733
http://purl.obolibrary.org/obo/GARD_0010733 EquivalentTo 'intravascular papillary endothelial hyperplasia'
http://purl.obolibrary.org/obo/GARD_0009759
http://purl.obolibrary.org/obo/GARD_0009759 EquivalentTo 'leukonychia totalis'
http://purl.obolibrary.org/obo/GARD_0009767
http://purl.obolibrary.org/obo/GARD_0009767 EquivalentTo 'perinatal necrotizing enterocolitis'
http://purl.obolibrary.org/obo/GARD_0009766
http://purl.obolibrary.org/obo/GARD_0009766 EquivalentTo 'Morvan syndrome'
http://purl.obolibrary.org/obo/GARD_0009762
http://purl.obolibrary.org/obo/GARD_0009762 EquivalentTo 'Potocki-Shaffer syndrome'
http://purl.obolibrary.org/obo/GARD_0009761
http://purl.obolibrary.org/obo/GARD_0009761 EquivalentTo 'nonsyndromic congenital nail disorder 7'
http://purl.obolibrary.org/obo/GARD_0009760
http://purl.obolibrary.org/obo/GARD_0009760 EquivalentTo 'nonsyndromic congenital nail disorder 2'
http://purl.obolibrary.org/obo/GARD_0010744
http://purl.obolibrary.org/obo/GARD_0010744 EquivalentTo 'malignant conjunctival melanoma'
http://purl.obolibrary.org/obo/GARD_0009703
http://purl.obolibrary.org/obo/GARD_0009703 EquivalentTo 'spondylocostal dysostosis 2, autosomal recessive'
http://purl.obolibrary.org/obo/GARD_0009700
http://purl.obolibrary.org/obo/GARD_0009700 EquivalentTo 'long chain acyl-CoA dehydrogenase deficiency'
http://purl.obolibrary.org/obo/GARD_0009709
http://purl.obolibrary.org/obo/GARD_0009709 EquivalentTo 'restless legs syndrome 1'
http://purl.obolibrary.org/obo/GARD_0009707
http://purl.obolibrary.org/obo/GARD_0009707 EquivalentTo 'familial cylindromatosis'
http://purl.obolibrary.org/obo/GARD_0009705
http://purl.obolibrary.org/obo/GARD_0009705 EquivalentTo 'epidermolysis bullosa simplex due to plakophilin deficiency'
http://www.ebi.ac.uk/efo/EFO_0003108
'essential tremor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0003108
http://purl.obolibrary.org/obo/GARD_0009704
http://purl.obolibrary.org/obo/GARD_0009704 EquivalentTo 'syndromic X-linked intellectual disability Siderius type'
http://purl.obolibrary.org/obo/GARD_0009712
http://purl.obolibrary.org/obo/GARD_0009712 EquivalentTo 'aquarium granuloma'
http://purl.obolibrary.org/obo/GARD_0009710
http://purl.obolibrary.org/obo/GARD_0009710 EquivalentTo 'RLS2'
http://purl.obolibrary.org/obo/GO_0016250
http://purl.obolibrary.org/obo/GARD_0009719
http://purl.obolibrary.org/obo/GARD_0009719 EquivalentTo 'orbit lymphoma'
http://purl.obolibrary.org/obo/GARD_0010704
http://purl.obolibrary.org/obo/GARD_0010704 EquivalentTo 'pontocerebellar hypoplasia type 1'
http://purl.obolibrary.org/obo/GARD_0009721
http://purl.obolibrary.org/obo/GARD_0009721 EquivalentTo 'ophthalmic herpes zoster'
http://purl.obolibrary.org/obo/GARD_0010707
http://purl.obolibrary.org/obo/GARD_0010707 EquivalentTo 'deafness with labyrinthine aplasia, microtia, and microdontia'
http://purl.obolibrary.org/obo/GARD_0010706
http://purl.obolibrary.org/obo/GARD_0010706 EquivalentTo 'cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome'
http://purl.obolibrary.org/obo/NCIT_C42088
'cerebral cortical dysplasia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C42088
http://www.orpha.net/ORDO/Orphanet_90339
'Rosselli-Gulienetti syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_90339
http://purl.obolibrary.org/obo/SCTID_55907008
'acquired aplastic anemia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_55907008
http://purl.obolibrary.org/obo/GARD_0010796
http://purl.obolibrary.org/obo/GARD_0010796 EquivalentTo 'hypnic headache (disease)'
http://linkedlifedata.com/resource/umls/id/C0559459
http://linkedlifedata.com/resource/umls/id/C0559459 EquivalentTo 'sacrococcygeal teratoma'
http://purl.obolibrary.org/obo/GARD_0009775
http://purl.obolibrary.org/obo/GARD_0009775 EquivalentTo 'Dowling-Degos disease'
http://purl.obolibrary.org/obo/MESH_D012478
http://purl.obolibrary.org/obo/MESH_D012478 EquivalentTo 'Salmonella gastroenteritis'
http://purl.obolibrary.org/obo/GARD_0010756
http://purl.obolibrary.org/obo/GARD_0010756 EquivalentTo 'multiple epiphyseal dysplasia (disease)'
http://purl.obolibrary.org/obo/GARD_0010769
http://purl.obolibrary.org/obo/GARD_0010769 EquivalentTo 'Laing early-onset distal myopathy'
http://purl.obolibrary.org/obo/SCTID_26249004
'intestinal helminthiasis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_26249004
http://purl.obolibrary.org/obo/GARD_0010760
http://purl.obolibrary.org/obo/GARD_0010760 EquivalentTo 'glycogen storage disease due to muscle and heart glycogen synthase deficiency'
http://purl.obolibrary.org/obo/GARD_0009781
http://purl.obolibrary.org/obo/GARD_0009781 EquivalentTo 'syndromic X-linked intellectual disability Lubs type'
http://purl.obolibrary.org/obo/GARD_0010762
http://purl.obolibrary.org/obo/GARD_0010762 EquivalentTo 'hereditary arterial and articular multiple calcification syndrome'
http://purl.obolibrary.org/obo/GARD_0010767
http://purl.obolibrary.org/obo/GARD_0010767 EquivalentTo 'MOGS-CDG'
http://purl.obolibrary.org/obo/GARD_0010766
http://purl.obolibrary.org/obo/GARD_0010766 EquivalentTo 'congenital factor XIII deficiency'
http://purl.obolibrary.org/obo/GARD_0010781
http://purl.obolibrary.org/obo/GARD_0010781 EquivalentTo 'enhanced S-cone syndrome'
http://purl.obolibrary.org/obo/GARD_0010779
http://purl.obolibrary.org/obo/GARD_0010779 EquivalentTo 'CLIPPERS'
http://purl.obolibrary.org/obo/GARD_0009798
http://purl.obolibrary.org/obo/GARD_0009798 EquivalentTo 'auriculocondylar syndrome'
http://purl.obolibrary.org/obo/GARD_0009797
http://purl.obolibrary.org/obo/GARD_0009797 EquivalentTo 'Dianzani autoimmune lymphoproliferative disease'
http://purl.obolibrary.org/obo/GARD_0009796
http://purl.obolibrary.org/obo/GARD_0009796 EquivalentTo 'autoimmune lymphoproliferative syndrome type 2B'
http://purl.obolibrary.org/obo/GARD_0009794
http://purl.obolibrary.org/obo/GARD_0009794 EquivalentTo 'multiple epiphyseal dysplasia type 5'
http://purl.obolibrary.org/obo/GARD_0009793
http://purl.obolibrary.org/obo/GARD_0009793 EquivalentTo 'multiple epiphyseal dysplasia type 4'
http://purl.obolibrary.org/obo/GARD_0010778
http://purl.obolibrary.org/obo/GARD_0010778 EquivalentTo 'recurrent infection due to specific granule deficiency'
http://purl.obolibrary.org/obo/GARD_0010777
http://purl.obolibrary.org/obo/GARD_0010777 EquivalentTo 'peritoneal multicystic mesothelioma'
http://purl.obolibrary.org/obo/GARD_0010790
http://purl.obolibrary.org/obo/GARD_0010790 EquivalentTo 'cone-rod dystrophy'
http://purl.obolibrary.org/obo/GARD_0010792
http://purl.obolibrary.org/obo/GARD_0010792 EquivalentTo 'semantic dementia'
http://purl.obolibrary.org/obo/GARD_0010782
http://purl.obolibrary.org/obo/GARD_0010782 EquivalentTo 'Stickler syndrome'
http://purl.obolibrary.org/obo/GARD_0010788
http://purl.obolibrary.org/obo/GARD_0010788 EquivalentTo 'Loeys-Dietz syndrome'
http://purl.obolibrary.org/obo/MESH_D002640
http://purl.obolibrary.org/obo/MESH_D002640 EquivalentTo 'postpartum amenorrhea-galactorrhea syndrome'
http://www.orpha.net/ORDO/Orphanet_3084
'retinopathy, pigmentary, and mental retardation' EquivalentTo http://www.orpha.net/ORDO/Orphanet_3084
http://purl.obolibrary.org/obo/SCTID_30270006
'parainfluenza virus type 3 infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_30270006
http://purl.obolibrary.org/obo/MESH_C536546
http://purl.obolibrary.org/obo/MESH_C536546 EquivalentTo 'ETM2'
http://www.orpha.net/ORDO/Orphanet_36205
'collagenous colitis' EquivalentTo http://www.orpha.net/ORDO/Orphanet_36205
http://www.ebi.ac.uk/efo/EFO_0007029
'Saethre-Chotzen syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0007029
http://purl.obolibrary.org/obo/MESH_C536511
http://purl.obolibrary.org/obo/MESH_C536511 EquivalentTo 'thickened earlobes with conductive deafness from incus-stapes abnormalities'
http://purl.obolibrary.org/obo/MESH_C536513
http://purl.obolibrary.org/obo/MESH_C536513 EquivalentTo 'microphthalmia microtia fetal akinesia'
http://www.ebi.ac.uk/efo/EFO_0007031
'Sjogren-Larsson syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0007031
http://www.ebi.ac.uk/efo/EFO_0007067
'decubitus ulcer' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0007067
http://www.ebi.ac.uk/efo/EFO_0007066
'chronic ulcer of skin' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0007066
http://www.ebi.ac.uk/efo/EFO_0007068
'ulcer of lower limbs' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0007068
http://purl.obolibrary.org/obo/GARD_0005305
http://purl.obolibrary.org/obo/GARD_0005305 EquivalentTo 'trisomy 12p'
http://purl.obolibrary.org/obo/GARD_0005304
http://purl.obolibrary.org/obo/GARD_0005304 EquivalentTo 'mosaic trisomy 12'
http://purl.obolibrary.org/obo/GARD_0005311
http://purl.obolibrary.org/obo/GARD_0005311 EquivalentTo 'partial duplication of the long arm of chromosome 14'
http://purl.obolibrary.org/obo/GARD_0005314
http://purl.obolibrary.org/obo/GARD_0005314 EquivalentTo 'partial duplication of the long arm of chromosome 15'
http://purl.obolibrary.org/obo/GARD_0005313
http://purl.obolibrary.org/obo/GARD_0005313 EquivalentTo 'mosaic trisomy 15'
http://purl.obolibrary.org/obo/GARD_0005316
http://purl.obolibrary.org/obo/GARD_0005316 EquivalentTo 'partial trisomy of the long arm of chromosome 16'
http://purl.obolibrary.org/obo/GARD_0005315
http://purl.obolibrary.org/obo/GARD_0005315 EquivalentTo 'partial duplication of the short arm of chromosome 16'
http://purl.obolibrary.org/obo/GARD_0005318
http://purl.obolibrary.org/obo/GARD_0005318 EquivalentTo 'trisomy 17p'
http://purl.obolibrary.org/obo/GARD_0005317
http://purl.obolibrary.org/obo/GARD_0005317 EquivalentTo 'mosaic trisomy 17'
http://purl.obolibrary.org/obo/GARD_0005323
http://purl.obolibrary.org/obo/GARD_0005323 EquivalentTo 'trisomy 18p'
http://purl.obolibrary.org/obo/GARD_0005324
http://purl.obolibrary.org/obo/GARD_0005324 EquivalentTo 'partial trisomy of the long arm of chromosome 18'
http://purl.obolibrary.org/obo/GARD_0005320
http://purl.obolibrary.org/obo/GARD_0005320 EquivalentTo 'partial duplication of the long arm of chromosome 17'
http://purl.obolibrary.org/obo/SCTID_205133005
'postaxial polydactyly of toes' EquivalentTo http://purl.obolibrary.org/obo/SCTID_205133005
http://purl.obolibrary.org/obo/GARD_0005258
http://purl.obolibrary.org/obo/GARD_0005258 EquivalentTo 'tricho-hepato-enteric syndrome'
http://purl.obolibrary.org/obo/GARD_0005252
http://purl.obolibrary.org/obo/GARD_0005252 EquivalentTo 'tricho-dento-osseous syndrome'
http://purl.obolibrary.org/obo/GARD_0005250
http://purl.obolibrary.org/obo/GARD_0005250 EquivalentTo 'Trichinellosis'
http://purl.obolibrary.org/obo/GARD_0005269
http://purl.obolibrary.org/obo/GARD_0005269 EquivalentTo 'trichostasis spinulosa'
http://purl.obolibrary.org/obo/GARD_0005266
http://purl.obolibrary.org/obo/GARD_0005266 EquivalentTo 'trichomegaly-retina pigmentary degeneration-dwarfism syndrome'
http://purl.obolibrary.org/obo/GARD_0005262
http://purl.obolibrary.org/obo/GARD_0005262 EquivalentTo 'trichoepithelioma, multiple familial, 1'
http://purl.obolibrary.org/obo/GARD_0005261
http://purl.obolibrary.org/obo/GARD_0005261 EquivalentTo 'trichodysplasia-xeroderma syndrome'
http://www.orpha.net/ORDO/Orphanet_3106
'Robinow-Sorauf syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_3106
http://purl.obolibrary.org/obo/GARD_0005274
http://purl.obolibrary.org/obo/GARD_0005274 EquivalentTo 'tricuspid atresia (disease)'
http://purl.obolibrary.org/obo/GARD_0005289
http://purl.obolibrary.org/obo/GARD_0005289 EquivalentTo 'polydactyly of a triphalangeal thumb'
http://purl.obolibrary.org/obo/GARD_0005288
http://purl.obolibrary.org/obo/GARD_0005288 EquivalentTo 'triphalangeal thumb, Nonopposable'
http://purl.obolibrary.org/obo/GARD_0005206
http://purl.obolibrary.org/obo/GARD_0005206 EquivalentTo 'thyroid cancer, nonmedullary, 2'
http://purl.obolibrary.org/obo/GARD_0005221
http://purl.obolibrary.org/obo/GARD_0005221 EquivalentTo 'hereditary neuropathy with liability to pressure palsies'
http://purl.obolibrary.org/obo/GARD_0005235
http://purl.obolibrary.org/obo/GARD_0005235 EquivalentTo 'Tracheobronchopathia osteochondroplastica'
http://purl.obolibrary.org/obo/GARD_0005234
http://purl.obolibrary.org/obo/GARD_0005234 EquivalentTo 'Mounier-Kuhn syndrome'
http://purl.obolibrary.org/obo/GARD_0005230
http://purl.obolibrary.org/obo/GARD_0005230 EquivalentTo 'torticollis-keloids-cryptorchidism-renal dysplasia syndrome'
http://purl.obolibrary.org/obo/GARD_0005232
http://purl.obolibrary.org/obo/GARD_0005232 EquivalentTo 'Weismann-Netter syndrome'
http://purl.obolibrary.org/obo/GARD_0005238
http://purl.obolibrary.org/obo/GARD_0005238 EquivalentTo 'X-linked intellectual disability-seizures-psoriasis syndrome'
http://purl.obolibrary.org/obo/GARD_0005244
http://purl.obolibrary.org/obo/GARD_0005244 EquivalentTo 'tremor, hereditary essential, 1'
http://purl.obolibrary.org/obo/GARD_0005243
http://purl.obolibrary.org/obo/GARD_0005243 EquivalentTo 'autosomal dominant optic atrophy plus syndrome'
http://purl.obolibrary.org/obo/MESH_D002590
http://purl.obolibrary.org/obo/MESH_D002590 EquivalentTo 'Cestode infectious disease'
http://purl.obolibrary.org/obo/MESH_D002581
http://purl.obolibrary.org/obo/MESH_D002581 EquivalentTo 'cervical incompetence'
http://purl.obolibrary.org/obo/MESH_C536445
http://purl.obolibrary.org/obo/MESH_C536445 EquivalentTo 'coronal synostosis, syndactyly and jejunal atresia'
http://purl.obolibrary.org/obo/NCIT_C95539
'sickle cell-beta-thalassemia disease syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C95539
http://purl.obolibrary.org/obo/GARD_0005299
http://purl.obolibrary.org/obo/GARD_0005299 EquivalentTo 'trisomy 10p'
http://purl.obolibrary.org/obo/GARD_0005290
http://purl.obolibrary.org/obo/GARD_0005290 EquivalentTo 'triphalangeal thumbs-brachyectrodactyly syndrome'
http://purl.obolibrary.org/obo/MESH_C536477
http://purl.obolibrary.org/obo/MESH_C536477 EquivalentTo 'urethral obstruction sequence'
http://purl.obolibrary.org/obo/MESH_C536474
http://purl.obolibrary.org/obo/MESH_C536474 EquivalentTo 'bladder urachal adenocarcinoma'
http://purl.obolibrary.org/obo/MESH_C536479
http://purl.obolibrary.org/obo/MESH_C536479 EquivalentTo 'urocanic aciduria (disease)'
http://purl.obolibrary.org/obo/MESH_C536606
http://purl.obolibrary.org/obo/MESH_C536606 EquivalentTo 'hypomaturation amelogenesis imperfecta'
http://purl.obolibrary.org/obo/MESH_C536639
http://purl.obolibrary.org/obo/MESH_C536639 EquivalentTo 'Schrander-stumpel-Theunissen-Hulsmans syndrome'
http://purl.obolibrary.org/obo/MESH_C536638
http://purl.obolibrary.org/obo/MESH_C536638 EquivalentTo 'intellectual disability-balding-patella luxation-acromicria syndrome'
http://purl.obolibrary.org/obo/MESH_C536635
http://purl.obolibrary.org/obo/MESH_C536635 EquivalentTo 'Schlegelberger-Grote syndrome'
http://purl.obolibrary.org/obo/GARD_0005201
http://purl.obolibrary.org/obo/GARD_0005201 EquivalentTo 'thymic epithelial neoplasm'
http://purl.obolibrary.org/obo/GARD_0005203
http://purl.obolibrary.org/obo/GARD_0005203 EquivalentTo 'thyrocerebrorenal syndrome'
http://purl.obolibrary.org/obo/GARD_0005200
http://purl.obolibrary.org/obo/GARD_0005200 EquivalentTo 'thumb stiffness-brachydactyly-intellectual disability syndrome'
http://purl.obolibrary.org/obo/GARD_0005135
http://purl.obolibrary.org/obo/GARD_0005135 EquivalentTo 'familial temporal lobe epilepsy 2'
http://purl.obolibrary.org/obo/GARD_0005133
http://purl.obolibrary.org/obo/GARD_0005133 EquivalentTo 'piebald trait-neurologic defects syndrome'
http://purl.obolibrary.org/obo/MEDGEN_358137
http://purl.obolibrary.org/obo/MEDGEN_358137 EquivalentTo 'autosomal dominant medullary cystic kidney disease with or without hyperuricemia'
http://purl.obolibrary.org/obo/GARD_0005148
http://purl.obolibrary.org/obo/GARD_0005148 EquivalentTo 'tetra-amelia'
http://purl.obolibrary.org/obo/SCTID_443805006
'auditory neuropathy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_443805006
http://purl.obolibrary.org/obo/GARD_0005104
http://purl.obolibrary.org/obo/GARD_0005104 EquivalentTo 'systemic primary carnitine deficiency disease'
http://purl.obolibrary.org/obo/GARD_0005100
http://purl.obolibrary.org/obo/GARD_0005100 EquivalentTo 'syringocystadenoma papilliferum'
http://purl.obolibrary.org/obo/GARD_0005116
http://purl.obolibrary.org/obo/GARD_0005116 EquivalentTo 'thrombocytopenia-absent radius syndrome'
http://purl.obolibrary.org/obo/GARD_0005119
http://purl.obolibrary.org/obo/GARD_0005119 EquivalentTo 'taurodontism (disease)'
http://purl.obolibrary.org/obo/GARD_0005124
http://purl.obolibrary.org/obo/GARD_0005124 EquivalentTo 'phocomelia, Schinzel type'
http://purl.obolibrary.org/obo/GARD_0005127
http://purl.obolibrary.org/obo/GARD_0005127 EquivalentTo 'non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome'
http://purl.obolibrary.org/obo/GARD_0005126
http://purl.obolibrary.org/obo/GARD_0005126 EquivalentTo 'trigonocephaly-bifid nose-acral anomalies syndrome'
http://purl.obolibrary.org/obo/GARD_0005121
http://purl.obolibrary.org/obo/GARD_0005121 EquivalentTo 'otopalatodigital syndrome type 1'
http://purl.obolibrary.org/obo/SCTID_419893006
'epidermoid cysts' EquivalentTo http://purl.obolibrary.org/obo/SCTID_419893006
http://www.ebi.ac.uk/efo/EFO_1002003
'hypersensitivity reaction disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1002003
http://www.ebi.ac.uk/efo/EFO_1002000
'Tako-tsubo cardiomyopathy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1002000
http://www.ebi.ac.uk/efo/EFO_1002008
'atypical teratoid rhabdoid tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1002008
http://purl.obolibrary.org/obo/NCIT_C119055
'pyogenic arthritis-pyoderma gangrenosum-acne syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C119055
http://purl.obolibrary.org/obo/MESH_C536572
http://purl.obolibrary.org/obo/MESH_C536572 EquivalentTo 'bone marrow failure syndrome'
http://www.ebi.ac.uk/efo/EFO_1002018
'bronchial disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1002018
http://www.ebi.ac.uk/efo/EFO_1002017
'differentiated thyroid carcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1002017
http://www.ebi.ac.uk/efo/EFO_1002013
'alcoholic pancreatitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1002013
http://www.ebi.ac.uk/efo/EFO_1002019
'oligoarticular juvenile idiopathic arthritis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1002019
http://www.ebi.ac.uk/efo/EFO_1002021
'prosthesis-related infectious disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1002021
http://www.ebi.ac.uk/efo/EFO_1002027
'osteomalacia (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1002027
http://www.ebi.ac.uk/efo/EFO_1002026
'rubella' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1002026
http://www.ebi.ac.uk/efo/EFO_1002025
'measles' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1002025
http://www.ebi.ac.uk/efo/EFO_1002023
'plantar wart' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1002023
http://www.ebi.ac.uk/efo/EFO_1002022
'herpes simplex infectious disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1002022
http://www.ebi.ac.uk/efo/EFO_1002032
'essential hypertension' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1002032
http://www.ebi.ac.uk/efo/EFO_1002039
'renal hypertension' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1002039
http://www.ebi.ac.uk/efo/EFO_1002034
'secondary hypertension' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1002034
http://purl.obolibrary.org/obo/MESH_C536558
http://purl.obolibrary.org/obo/MESH_C536558 EquivalentTo 'trichostasis spinulosa'
http://purl.obolibrary.org/obo/GARD_0005176
http://purl.obolibrary.org/obo/GARD_0005176 EquivalentTo 'X-linked thrombocytopenia with normal platelets'
http://purl.obolibrary.org/obo/GARD_0005175
http://purl.obolibrary.org/obo/GARD_0005175 EquivalentTo 'Thomas syndrome'
http://purl.obolibrary.org/obo/GARD_0005177
http://purl.obolibrary.org/obo/GARD_0005177 EquivalentTo 'hepatic fibrosis-renal cysts-intellectual disability syndrome'
http://purl.obolibrary.org/obo/GARD_0005173
http://purl.obolibrary.org/obo/GARD_0005173 EquivalentTo 'thiopurine S-methyltransferase deficiency'
http://purl.obolibrary.org/obo/GARD_0005186
http://purl.obolibrary.org/obo/GARD_0005186 EquivalentTo 'palmoplantar keratoderma, nonepidermolytic'
http://purl.obolibrary.org/obo/GARD_0005188
http://purl.obolibrary.org/obo/GARD_0005188 EquivalentTo 'Stormorken syndrome'
http://purl.obolibrary.org/obo/GARD_0005184
http://purl.obolibrary.org/obo/GARD_0005184 EquivalentTo 'thoracolaryngopelvic dysplasia'
http://purl.obolibrary.org/obo/GARD_0005199
http://purl.obolibrary.org/obo/GARD_0005199 EquivalentTo 'thumb deformity-alopecia-pigmentation anomaly syndrome'
http://purl.obolibrary.org/obo/GARD_0005194
http://purl.obolibrary.org/obo/GARD_0005194 EquivalentTo 'autoimmune thrombocytopenic purpura'
http://purl.obolibrary.org/obo/GARD_0005193
http://purl.obolibrary.org/obo/GARD_0005193 EquivalentTo 'thrombocytopenia-robin sequence syndrome'
http://purl.obolibrary.org/obo/MONDO_0024376
sleep disorder, initiating and maintaining sleep
'sleep disorder, initiating and maintaining sleep' SubClassOf 'sleep wake disorder'
'sleep disorder, initiating and maintaining sleep' EquivalentTo http://purl.obolibrary.org/obo/SCTID_194437008
http://www.ebi.ac.uk/efo/EFO_0007201
'cerebral ventricle cancer' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0007201
http://www.orpha.net/ORDO/Orphanet_36414
'brainstem neoplasm' EquivalentTo http://www.orpha.net/ORDO/Orphanet_36414
http://purl.obolibrary.org/obo/SCTID_307816004
'Leriche syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_307816004
http://purl.obolibrary.org/obo/SCTID_302873008
'thrombocytopenic purpura' EquivalentTo http://purl.obolibrary.org/obo/SCTID_302873008
http://purl.obolibrary.org/obo/MESH_D012207
http://purl.obolibrary.org/obo/MESH_D012207 EquivalentTo 'rhabdomyoma'
http://purl.obolibrary.org/obo/SCTID_125666000
'burn' EquivalentTo http://purl.obolibrary.org/obo/SCTID_125666000
http://purl.obolibrary.org/obo/NCIT_C32132
'hidradenitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C32132
http://www.ebi.ac.uk/efo/EFO_0007270
'femoral cancer' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0007270
http://purl.obolibrary.org/obo/GARD_0005015
http://purl.obolibrary.org/obo/GARD_0005015 EquivalentTo 'steroid dehydrogenase deficiency-dental anomalies syndrome'
http://purl.obolibrary.org/obo/GARD_0005018
http://purl.obolibrary.org/obo/GARD_0005018 EquivalentTo 'Stickler syndrome type 1'
http://purl.obolibrary.org/obo/GARD_0005026
http://purl.obolibrary.org/obo/GARD_0005026 EquivalentTo 'Stimmler syndrome'
http://purl.obolibrary.org/obo/GARD_0005027
http://purl.obolibrary.org/obo/GARD_0005027 EquivalentTo 'non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome'
http://purl.obolibrary.org/obo/GARD_0005023
http://purl.obolibrary.org/obo/GARD_0005023 EquivalentTo 'stiff-person syndrome'
http://purl.obolibrary.org/obo/SCTID_710010005
'mosaic monosomy X' EquivalentTo http://purl.obolibrary.org/obo/SCTID_710010005
http://purl.obolibrary.org/obo/MESH_C536284
http://purl.obolibrary.org/obo/MESH_C536284 EquivalentTo 'iida kannari syndrome'
http://purl.obolibrary.org/obo/NCBITaxon_287
http://purl.obolibrary.org/obo/GARD_0005049
http://purl.obolibrary.org/obo/GARD_0005049 EquivalentTo 'classic lissencephaly'
http://purl.obolibrary.org/obo/GARD_0005045
http://purl.obolibrary.org/obo/GARD_0005045 EquivalentTo 'StCve-Wiedemann syndrome'
http://purl.obolibrary.org/obo/GARD_0005040
http://purl.obolibrary.org/obo/GARD_0005040 EquivalentTo 'infantile bilateral striatal necrosis'
http://purl.obolibrary.org/obo/GARD_0005041
http://purl.obolibrary.org/obo/GARD_0005041 EquivalentTo 'hereditary spastic paraplegia 3A'
http://purl.obolibrary.org/obo/MESH_D012192
http://purl.obolibrary.org/obo/MESH_D012192 EquivalentTo 'uterine carcinosarcoma'
http://purl.obolibrary.org/obo/SCTID_237946002
'vitamin B12-unresponsive methylmalonic acidemia type mut-' EquivalentTo http://purl.obolibrary.org/obo/SCTID_237946002
http://www.orpha.net/ORDO/Orphanet_3315
'thiopurine S-methyltransferase deficiency' EquivalentTo http://www.orpha.net/ORDO/Orphanet_3315
http://purl.obolibrary.org/obo/GARD_0005004
http://purl.obolibrary.org/obo/GARD_0005004 EquivalentTo 'steatocystoma multiplex-natal teeth syndrome'
http://purl.obolibrary.org/obo/GARD_0005003
http://purl.obolibrary.org/obo/GARD_0005003 EquivalentTo 'Sebocystomatosis'
http://purl.obolibrary.org/obo/GARD_0005000
http://purl.obolibrary.org/obo/GARD_0005000 EquivalentTo 'familial intestinal malrotation-facial anomalies syndrome'
http://purl.obolibrary.org/obo/GARD_0005091
http://purl.obolibrary.org/obo/GARD_0005091 EquivalentTo 'syngnathia-cleft palate syndrome'
http://purl.obolibrary.org/obo/GARD_0005090
http://purl.obolibrary.org/obo/GARD_0005090 EquivalentTo 'syndactyly-polydactyly-ear lobe syndrome'
http://purl.obolibrary.org/obo/MESH_C536261
http://purl.obolibrary.org/obo/MESH_C536261 EquivalentTo 'radial defect robin sequence'
http://purl.obolibrary.org/obo/GARD_0005068
http://purl.obolibrary.org/obo/GARD_0005068 EquivalentTo '46,XY complete gonadal dysgenesis'
http://purl.obolibrary.org/obo/GARD_0005062
http://purl.obolibrary.org/obo/GARD_0005062 EquivalentTo 'isolated sulfite oxidase deficiency'
http://purl.obolibrary.org/obo/GARD_0005061
http://purl.obolibrary.org/obo/GARD_0005061 EquivalentTo 'mucosulfatidosis'
http://purl.obolibrary.org/obo/NCIT_C95752
'autoimmune gastritis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C95752
http://purl.obolibrary.org/obo/SCTID_230450001
'eating seizures' EquivalentTo http://purl.obolibrary.org/obo/SCTID_230450001
http://purl.obolibrary.org/obo/MESH_D012133
http://purl.obolibrary.org/obo/MESH_D012133 EquivalentTo 'respiratory paralysis'
http://purl.obolibrary.org/obo/SCTID_363246002
'nutritional deficiency disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_363246002
http://purl.obolibrary.org/obo/GARD_0005087
http://purl.obolibrary.org/obo/GARD_0005087 EquivalentTo 'syndactyly type 2'
http://purl.obolibrary.org/obo/GARD_0005084
http://purl.obolibrary.org/obo/GARD_0005084 EquivalentTo 'Cenani-Lenz syndactyly syndrome'
http://purl.obolibrary.org/obo/GARD_0005081
http://purl.obolibrary.org/obo/GARD_0005081 EquivalentTo 'syndactyly type 1'
http://purl.obolibrary.org/obo/MESH_C536403
http://purl.obolibrary.org/obo/MESH_C536403 EquivalentTo 'nephrotic syndrome ocular anomalies'
http://purl.obolibrary.org/obo/SCTID_716994006
'behavioral variant of frontotemporal dementia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_716994006
http://linkedlifedata.com/resource/umls/id/C0334245
http://linkedlifedata.com/resource/umls/id/C0334245 EquivalentTo 'squamous carcinoma in situ'
http://purl.obolibrary.org/obo/SCTID_424728002
'Prepapillary vascular loops' EquivalentTo http://purl.obolibrary.org/obo/SCTID_424728002
http://www.orpha.net/ORDO/Orphanet_3128
'Sakati-Nyhan syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_3128
http://purl.obolibrary.org/obo/SCTID_95802009
'hyalitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_95802009
http://purl.obolibrary.org/obo/NCBITaxon_196
http://purl.obolibrary.org/obo/MESH_C536396
http://purl.obolibrary.org/obo/MESH_C536396 EquivalentTo 'neonatal ovarian cyst'
http://purl.obolibrary.org/obo/SCTID_74969002
'isolated ectopia lentis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_74969002
http://purl.obolibrary.org/obo/MESH_D051677
http://purl.obolibrary.org/obo/MESH_D051677 EquivalentTo 'undifferentiated pleomorphic sarcoma'
http://purl.obolibrary.org/obo/SCTID_277155005
'external ear neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_277155005
http://purl.obolibrary.org/obo/MESH_C536343
http://purl.obolibrary.org/obo/MESH_C536343 EquivalentTo 'posterior column ataxia-retinitis pigmentosa syndrome'
http://purl.obolibrary.org/obo/MESH_C536348
http://purl.obolibrary.org/obo/MESH_C536348 EquivalentTo 'vibrio vulnificus infectious disease'
http://purl.obolibrary.org/obo/MESH_C536323
http://purl.obolibrary.org/obo/MESH_C536323 EquivalentTo 'pointer syndrome'
http://purl.obolibrary.org/obo/MESH_C536321
http://purl.obolibrary.org/obo/MESH_C536321 EquivalentTo 'Kindler syndrome'
http://purl.obolibrary.org/obo/MESH_C536313
http://purl.obolibrary.org/obo/MESH_C536313 EquivalentTo 'Pavone Fiumara Rizzo syndrome'
http://purl.obolibrary.org/obo/MESH_D026681
http://purl.obolibrary.org/obo/MESH_D026681 EquivalentTo 'pyridoxine deficiency anemia'
http://purl.obolibrary.org/obo/SCTID_28399005
'splenic tuberculosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_28399005
http://purl.obolibrary.org/obo/MESH_C536378
http://purl.obolibrary.org/obo/MESH_C536378 EquivalentTo 'anonychia-onychodystrophy syndrome'
http://purl.obolibrary.org/obo/MESH_C536360
http://purl.obolibrary.org/obo/MESH_C536360 EquivalentTo 'ANIB2'
http://purl.obolibrary.org/obo/SCTID_239132009
'Carney complex' EquivalentTo http://purl.obolibrary.org/obo/SCTID_239132009
http://purl.obolibrary.org/obo/MESH_D012001
http://purl.obolibrary.org/obo/MESH_D012001 EquivalentTo 'hyperacusis'
http://purl.obolibrary.org/obo/GARD_0005708
http://purl.obolibrary.org/obo/GARD_0005708 EquivalentTo 'idiopathic achalasia'
http://purl.obolibrary.org/obo/GARD_0005700
http://purl.obolibrary.org/obo/GARD_0005700 EquivalentTo 'rickets (disease)'
http://www.ebi.ac.uk/efo/EFO_0007456
'pseudomyxoma peritonei' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0007456
http://purl.obolibrary.org/obo/SCTID_302838006
'intradermal nevus' EquivalentTo http://purl.obolibrary.org/obo/SCTID_302838006
http://purl.obolibrary.org/obo/GARD_0005714
http://purl.obolibrary.org/obo/GARD_0005714 EquivalentTo 'glycogen storage disease II'
http://purl.obolibrary.org/obo/GARD_0005721
http://purl.obolibrary.org/obo/GARD_0005721 EquivalentTo 'acrocallosal syndrome'
http://purl.obolibrary.org/obo/MESH_C536956
http://purl.obolibrary.org/obo/MESH_C536956 EquivalentTo 'familial temporal lobe epilepsy 2'
http://www.orpha.net/ORDO/Orphanet_330197
'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_330197
http://purl.obolibrary.org/obo/MESH_C536993
http://purl.obolibrary.org/obo/MESH_C536993 EquivalentTo 'MYMY3'
http://purl.obolibrary.org/obo/NCIT_C12787
'vesiculitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C12787
http://purl.obolibrary.org/obo/GARD_0005768
http://purl.obolibrary.org/obo/GARD_0005768 EquivalentTo 'albinism'
http://purl.obolibrary.org/obo/GARD_0005776
http://purl.obolibrary.org/obo/GARD_0005776 EquivalentTo 'eosinophilic granulomatosis with polyangiitis'
http://purl.obolibrary.org/obo/GARD_0005770
http://purl.obolibrary.org/obo/GARD_0005770 EquivalentTo 'Albright hereditary osteodystrophy'
http://purl.obolibrary.org/obo/GARD_0005785
http://purl.obolibrary.org/obo/GARD_0005785 EquivalentTo 'X-linked Alport syndrome'
http://purl.obolibrary.org/obo/GARD_0005787
http://purl.obolibrary.org/obo/GARD_0005787 EquivalentTo 'Alstrom syndrome'
http://purl.obolibrary.org/obo/GARD_0005786
http://purl.obolibrary.org/obo/GARD_0005786 EquivalentTo 'amyotrophic lateral sclerosis'
http://purl.obolibrary.org/obo/GARD_0005783
http://purl.obolibrary.org/obo/GARD_0005783 EquivalentTo 'mitochondrial DNA depletion syndrome 4a'
http://purl.obolibrary.org/obo/GARD_0005797
http://purl.obolibrary.org/obo/GARD_0005797 EquivalentTo 'AL amyloidosis'
http://purl.obolibrary.org/obo/GARD_0005727
http://purl.obolibrary.org/obo/GARD_0005727 EquivalentTo 'adrenocorticotropic hormone deficiency (disease)'
http://purl.obolibrary.org/obo/GARD_0005726
http://purl.obolibrary.org/obo/GARD_0005726 EquivalentTo 'eccrine acrospiroma'
http://purl.obolibrary.org/obo/GARD_0005732
http://purl.obolibrary.org/obo/GARD_0005732 EquivalentTo 'acute intermittent porphyria'
http://purl.obolibrary.org/obo/GARD_0005736
http://purl.obolibrary.org/obo/GARD_0005736 EquivalentTo 'necrotizing ulcerative gingivitis'
http://purl.obolibrary.org/obo/GARD_0005741
http://purl.obolibrary.org/obo/GARD_0005741 EquivalentTo 'combined carcinoid and adenocarcinoma'
http://purl.obolibrary.org/obo/GARD_0005740
http://purl.obolibrary.org/obo/GARD_0005740 EquivalentTo 'Addison disease'
http://purl.obolibrary.org/obo/GARD_0005743
http://purl.obolibrary.org/obo/GARD_0005743 EquivalentTo 'adenoid cystic carcinoma'
http://purl.obolibrary.org/obo/MESH_C536938
http://purl.obolibrary.org/obo/MESH_C536938 EquivalentTo 'umbilical cord ulceration-intestinal atresia syndrome'
http://purl.obolibrary.org/obo/GARD_0005749
http://purl.obolibrary.org/obo/GARD_0005749 EquivalentTo 'Holmes-Adie syndrome'
http://purl.obolibrary.org/obo/GARD_0005745
http://purl.obolibrary.org/obo/GARD_0005745 EquivalentTo 'adrenal cortex adenoma'
http://purl.obolibrary.org/obo/GARD_0005747
http://purl.obolibrary.org/obo/GARD_0005747 EquivalentTo 'ameloblastoma'
http://purl.obolibrary.org/obo/GARD_0005751
http://purl.obolibrary.org/obo/GARD_0005751 EquivalentTo 'adrenal gland cancer'
http://purl.obolibrary.org/obo/NCIT_C95071
'circadian rhythm sleep disorder' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C95071
http://purl.obolibrary.org/obo/GARD_0005758
http://purl.obolibrary.org/obo/GARD_0005758 EquivalentTo 'X-linked adrenoleukodystrophy'
http://purl.obolibrary.org/obo/GARD_0005757
http://purl.obolibrary.org/obo/GARD_0005757 EquivalentTo 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency'
http://purl.obolibrary.org/obo/GARD_0005761
http://purl.obolibrary.org/obo/GARD_0005761 EquivalentTo 'congenital afibrinogenemia'
http://www.orpha.net/ORDO/Orphanet_330206
'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' EquivalentTo http://www.orpha.net/ORDO/Orphanet_330206
http://purl.obolibrary.org/obo/MESH_D002189
http://purl.obolibrary.org/obo/MESH_D002189 EquivalentTo 'cannabis dependence'
http://purl.obolibrary.org/obo/GARD_0005697
http://purl.obolibrary.org/obo/GARD_0005697 EquivalentTo 'fibrosclerosis, multifocal'
http://purl.obolibrary.org/obo/GARD_0005696
http://purl.obolibrary.org/obo/GARD_0005696 EquivalentTo 'Rett syndrome'
http://purl.obolibrary.org/obo/GARD_0005698
http://purl.obolibrary.org/obo/GARD_0005698 EquivalentTo 'adult respiratory distress syndrome'
http://purl.obolibrary.org/obo/GARD_0005695
http://purl.obolibrary.org/obo/GARD_0005695 EquivalentTo 'retinopathy of prematurity'
http://purl.obolibrary.org/obo/GARD_0005694
http://purl.obolibrary.org/obo/GARD_0005694 EquivalentTo 'retinitis pigmentosa'
http://purl.obolibrary.org/obo/MESH_D002169
http://purl.obolibrary.org/obo/MESH_D002169 EquivalentTo 'campylobacteriosis'
http://purl.obolibrary.org/obo/MESH_D002105
http://purl.obolibrary.org/obo/MESH_D002105 EquivalentTo 'cadmium poisoning'
http://purl.obolibrary.org/obo/MESH_D016774
http://purl.obolibrary.org/obo/MESH_D016774 EquivalentTo 'leishmaniasis, diffuse cutaneous'
http://purl.obolibrary.org/obo/MESH_D016770
http://purl.obolibrary.org/obo/MESH_D016770 EquivalentTo 'Ciliophora infectious disease'
http://www.ebi.ac.uk/efo/EFO_0007408
'orbital cancer' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0007408
http://purl.obolibrary.org/obo/MESH_D016735
http://purl.obolibrary.org/obo/MESH_D016735 EquivalentTo 'Munchausen by proxy'
http://purl.obolibrary.org/obo/MESH_D016720
http://purl.obolibrary.org/obo/MESH_D016720 EquivalentTo 'Pneumocystis infectious disease'
http://www.ebi.ac.uk/efo/EFO_0007412
'ossifying fibroma (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0007412
http://purl.obolibrary.org/obo/SCTID_90584004
'spinal cord injuries' EquivalentTo http://purl.obolibrary.org/obo/SCTID_90584004
http://www.ebi.ac.uk/efo/EFO_0007333
'jaw cancer' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0007333
http://purl.obolibrary.org/obo/GARD_0005654
http://purl.obolibrary.org/obo/GARD_0005654 EquivalentTo 'alveolar soft part sarcoma (disease)'
http://purl.obolibrary.org/obo/GARD_0005657
http://purl.obolibrary.org/obo/GARD_0005657 EquivalentTo 'PFAPA syndrome'
http://purl.obolibrary.org/obo/GARD_0005659
http://purl.obolibrary.org/obo/GARD_0005659 EquivalentTo '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency'
http://purl.obolibrary.org/obo/GARD_0005658
http://purl.obolibrary.org/obo/GARD_0005658 EquivalentTo 'congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency'
http://purl.obolibrary.org/obo/GARD_0005663
http://purl.obolibrary.org/obo/GARD_0005663 EquivalentTo '3-methylglutaconic aciduria type 3'
http://purl.obolibrary.org/obo/GARD_0005661
http://purl.obolibrary.org/obo/GARD_0005661 EquivalentTo 'D-2-hydroxyglutaric aciduria'
http://purl.obolibrary.org/obo/GARD_0005667
http://purl.obolibrary.org/obo/GARD_0005667 EquivalentTo '3-M syndrome'
http://purl.obolibrary.org/obo/GARD_0005674
http://purl.obolibrary.org/obo/GARD_0005674 EquivalentTo '47,XYY syndrome'
http://purl.obolibrary.org/obo/GARD_0005678
http://purl.obolibrary.org/obo/GARD_0005678 EquivalentTo 'pentasomy X'
http://purl.obolibrary.org/obo/GARD_0005686
http://purl.obolibrary.org/obo/GARD_0005686 EquivalentTo 'glycogen storage disease VII'
http://purl.obolibrary.org/obo/GARD_0005682
http://purl.obolibrary.org/obo/GARD_0005682 EquivalentTo 'BH4-deficient hyperphenylalaninemia A'
http://purl.obolibrary.org/obo/GARD_0005681
http://purl.obolibrary.org/obo/GARD_0005681 EquivalentTo '5-oxoprolinase deficiency (disease)'
http://purl.obolibrary.org/obo/GARD_0005680
http://purl.obolibrary.org/obo/GARD_0005680 EquivalentTo '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency'
http://purl.obolibrary.org/obo/GARD_0005611
http://purl.obolibrary.org/obo/GARD_0005611 EquivalentTo 'severe X-linked intellectual disability, Gustavson type'
http://purl.obolibrary.org/obo/GARD_0005618
http://purl.obolibrary.org/obo/GARD_0005618 EquivalentTo 'gamma chain deficiency'
http://purl.obolibrary.org/obo/GARD_0005613
http://purl.obolibrary.org/obo/GARD_0005613 EquivalentTo 'intellectual disability, X-linked 63'
http://purl.obolibrary.org/obo/GARD_0005615
http://purl.obolibrary.org/obo/GARD_0005615 EquivalentTo 'syndromic X-linked intellectual disability Snyder type'
http://purl.obolibrary.org/obo/GARD_0005614
http://purl.obolibrary.org/obo/GARD_0005614 EquivalentTo 'intellectual disability, X-linked, with or without seizures, arx-related'
http://purl.obolibrary.org/obo/GARD_0005621
http://purl.obolibrary.org/obo/GARD_0005621 EquivalentTo 'xanthinuria type I'
http://purl.obolibrary.org/obo/GARD_0005628
http://purl.obolibrary.org/obo/GARD_0005628 EquivalentTo 'xeroderma pigmentosum group F'
http://purl.obolibrary.org/obo/GARD_0005627
http://purl.obolibrary.org/obo/GARD_0005627 EquivalentTo 'xeroderma pigmentosum group E'
http://purl.obolibrary.org/obo/GARD_0005629
http://purl.obolibrary.org/obo/GARD_0005629 EquivalentTo 'xeroderma pigmentosum group G'
http://purl.obolibrary.org/obo/GARD_0005624
http://purl.obolibrary.org/obo/GARD_0005624 EquivalentTo 'xeroderma pigmentosum group A'
http://purl.obolibrary.org/obo/GARD_0005623
http://purl.obolibrary.org/obo/GARD_0005623 EquivalentTo 'dehydrated hereditary stomatocytosis'
http://purl.obolibrary.org/obo/GARD_0005626
http://purl.obolibrary.org/obo/GARD_0005626 EquivalentTo 'xeroderma pigmentosum group C'
http://purl.obolibrary.org/obo/GARD_0005625
http://purl.obolibrary.org/obo/GARD_0005625 EquivalentTo 'xeroderma pigmentosum group B'
http://purl.obolibrary.org/obo/GARD_0005642
http://purl.obolibrary.org/obo/GARD_0005642 EquivalentTo 'Aase-Smith syndrome'
http://purl.obolibrary.org/obo/MESH_D065634
http://purl.obolibrary.org/obo/MESH_D065634 EquivalentTo 'cerebrospinal fluid leak'
http://purl.obolibrary.org/obo/GARD_0005576
http://purl.obolibrary.org/obo/GARD_0005576 EquivalentTo 'Denys-Drash syndrome'
http://purl.obolibrary.org/obo/GARD_0005578
http://purl.obolibrary.org/obo/GARD_0005578 EquivalentTo 'Wilms tumor 5'
http://purl.obolibrary.org/obo/GARD_0005587
http://purl.obolibrary.org/obo/GARD_0005587 EquivalentTo 'tooth and nail syndrome'
http://purl.obolibrary.org/obo/GARD_0005597
http://purl.obolibrary.org/obo/GARD_0005597 EquivalentTo 'woolly hair (disease)'
http://purl.obolibrary.org/obo/MESH_D002056
http://purl.obolibrary.org/obo/MESH_D002056 EquivalentTo 'burn'
http://purl.obolibrary.org/obo/GARD_0005594
http://purl.obolibrary.org/obo/GARD_0005594 EquivalentTo 'woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome'
http://purl.obolibrary.org/obo/NCIT_C120408
'proximal 16p11.2 microdeletion syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C120408
http://purl.obolibrary.org/obo/NCIT_C5343
'mucoepidermoid esophageal carcinoma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C5343
http://purl.obolibrary.org/obo/MESH_C536741
http://purl.obolibrary.org/obo/MESH_C536741 EquivalentTo 'Wolffian adnexal tumor'
http://purl.obolibrary.org/obo/MESH_C536745
http://purl.obolibrary.org/obo/MESH_C536745 EquivalentTo 'woolly hair (disease)'
http://purl.obolibrary.org/obo/MESH_C536732
http://purl.obolibrary.org/obo/MESH_C536732 EquivalentTo 'partial duplication of the long arm of chromosome X'
http://purl.obolibrary.org/obo/MESH_C536724
http://purl.obolibrary.org/obo/MESH_C536724 EquivalentTo 'zerres rietschel majewski syndrome'
http://purl.obolibrary.org/obo/MESH_C536723
http://purl.obolibrary.org/obo/MESH_C536723 EquivalentTo 'zazam sheriff phillips syndrome'
http://purl.obolibrary.org/obo/MESH_C536721
http://purl.obolibrary.org/obo/MESH_C536721 EquivalentTo 'zadik barak levin syndrome'
http://purl.obolibrary.org/obo/GARD_0005525
http://purl.obolibrary.org/obo/GARD_0005525 EquivalentTo 'Waardenburg syndrome'
http://purl.obolibrary.org/obo/GARD_0005534
http://purl.obolibrary.org/obo/GARD_0005534 EquivalentTo 'Warburg micro syndrome'
http://purl.obolibrary.org/obo/GARD_0005530
http://purl.obolibrary.org/obo/GARD_0005530 EquivalentTo 'aniridia-intellectual disability syndrome'
http://purl.obolibrary.org/obo/UBERON_0004454
http://purl.obolibrary.org/obo/GARD_0005539
http://purl.obolibrary.org/obo/GARD_0005539 EquivalentTo 'acromelic frontonasal dysostosis'
http://purl.obolibrary.org/obo/GARD_0005535
http://purl.obolibrary.org/obo/GARD_0005535 EquivalentTo 'deaf blind hypopigmentation syndrome, Yemenite type'
http://purl.obolibrary.org/obo/GARD_0005538
http://purl.obolibrary.org/obo/GARD_0005538 EquivalentTo 'craniosynostosis, Boston type'
http://purl.obolibrary.org/obo/GARD_0005554
http://purl.obolibrary.org/obo/GARD_0005554 EquivalentTo 'cataract-aberrant oral frenula-growth delay syndrome'
http://purl.obolibrary.org/obo/GARD_0005555
http://purl.obolibrary.org/obo/GARD_0005555 EquivalentTo 'spastic paraparesis-deafness syndrome'
http://purl.obolibrary.org/obo/GARD_0005552
http://purl.obolibrary.org/obo/GARD_0005552 EquivalentTo 'distal myopathy, Welander type'
http://purl.obolibrary.org/obo/GARD_0005558
http://purl.obolibrary.org/obo/GARD_0005558 EquivalentTo 'autoimmune polyendocrine syndrome type 1'
http://purl.obolibrary.org/obo/GARD_0005557
http://purl.obolibrary.org/obo/GARD_0005557 EquivalentTo 'Westphal disease'
http://purl.obolibrary.org/obo/GARD_0005566
http://purl.obolibrary.org/obo/GARD_0005566 EquivalentTo 'hirsutism-skeletal dysplasia-intellectual disability syndrome'
http://purl.obolibrary.org/obo/GARD_0005562
http://purl.obolibrary.org/obo/GARD_0005562 EquivalentTo 'osteopathia striata-pigmentary dermopathy-white forelock syndrome'
http://purl.obolibrary.org/obo/MESH_C536704
http://purl.obolibrary.org/obo/MESH_C536704 EquivalentTo 'Wiedemann-Steiner syndrome'
http://purl.obolibrary.org/obo/GARD_0005500
http://purl.obolibrary.org/obo/GARD_0005500 EquivalentTo 'vitamin B12-responsive methylmalonic acidemia type cblA'
http://purl.obolibrary.org/obo/GARD_0005507
http://purl.obolibrary.org/obo/GARD_0005507 EquivalentTo 'autosomal dominant vitreoretinochoroidopathy'
http://purl.obolibrary.org/obo/GARD_0005509
http://purl.obolibrary.org/obo/GARD_0005509 EquivalentTo 'laryngeal abductor paralysis'
http://purl.obolibrary.org/obo/GARD_0005508
http://purl.obolibrary.org/obo/GARD_0005508 EquivalentTo 'very long chain acyl-CoA dehydrogenase deficiency'
http://purl.obolibrary.org/obo/GARD_0005518
http://purl.obolibrary.org/obo/GARD_0005518 EquivalentTo 'hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome'
http://purl.obolibrary.org/obo/GARD_0005513
http://purl.obolibrary.org/obo/GARD_0005513 EquivalentTo 'Mayer-Rokitansky-KCster-Hauser syndrome type 2'
http://purl.obolibrary.org/obo/GARD_0005496
http://purl.obolibrary.org/obo/GARD_0005496 EquivalentTo 'oculogastrointestinal muscular dystrophy'
http://purl.obolibrary.org/obo/GARD_0005493
http://purl.obolibrary.org/obo/GARD_0005493 EquivalentTo 'VIPoma'
http://purl.obolibrary.org/obo/GARD_0005456
http://purl.obolibrary.org/obo/GARD_0005456 EquivalentTo 'van Maldergem syndrome'
http://purl.obolibrary.org/obo/GARD_0005469
http://purl.obolibrary.org/obo/GARD_0005469 EquivalentTo 'velo-facial-skeletal syndrome'
http://purl.obolibrary.org/obo/GARD_0005478
http://purl.obolibrary.org/obo/GARD_0005478 EquivalentTo 'brachyolmia-amelogenesis imperfecta syndrome'
http://purl.obolibrary.org/obo/GARD_0005472
http://purl.obolibrary.org/obo/GARD_0005472 EquivalentTo 'ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome'
http://www.orpha.net/ORDO/Orphanet_138706
'age related macular degeneration 7' EquivalentTo http://www.orpha.net/ORDO/Orphanet_138706
http://purl.obolibrary.org/obo/GARD_0005470
http://purl.obolibrary.org/obo/GARD_0005470 EquivalentTo 'congenital velopharyngeal incompetence'
http://purl.obolibrary.org/obo/SCTID_279611005
'combat disorder' EquivalentTo http://purl.obolibrary.org/obo/SCTID_279611005
http://purl.obolibrary.org/obo/GARD_0005487
http://purl.obolibrary.org/obo/GARD_0005487 EquivalentTo 'posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome'
http://purl.obolibrary.org/obo/GARD_0005484
http://purl.obolibrary.org/obo/GARD_0005484 EquivalentTo 'inflammatory linear verrucous epidermal nevus'
http://purl.obolibrary.org/obo/GARD_0005481
http://purl.obolibrary.org/obo/GARD_0005481 EquivalentTo 'microspherophakia-metaphyseal dysplasia syndrome'
http://purl.obolibrary.org/obo/MESH_C536694
http://purl.obolibrary.org/obo/MESH_C536694 EquivalentTo 'Westphal disease'
http://purl.obolibrary.org/obo/MESH_C536688
http://purl.obolibrary.org/obo/MESH_C536688 EquivalentTo 'weinstein kliman scully syndrome'
http://purl.obolibrary.org/obo/MESH_C536673
http://purl.obolibrary.org/obo/MESH_C536673 EquivalentTo 'Slti-Salem syndrome'
http://purl.obolibrary.org/obo/MESH_C536869
http://purl.obolibrary.org/obo/MESH_C536869 EquivalentTo 'spastic paraplegia-epilepsy-intellectual disability syndrome'
http://purl.obolibrary.org/obo/SCTID_91955005
'Machado-Joseph disease type 3' EquivalentTo http://purl.obolibrary.org/obo/SCTID_91955005
http://purl.obolibrary.org/obo/SCTID_253231007
'aniridia 1' EquivalentTo http://purl.obolibrary.org/obo/SCTID_253231007
http://purl.obolibrary.org/obo/SCTID_77690003
'interstitial emphysema' EquivalentTo http://purl.obolibrary.org/obo/SCTID_77690003
http://purl.obolibrary.org/obo/GARD_0005408
http://purl.obolibrary.org/obo/GARD_0005408 EquivalentTo 'chromosome 17q11.2 deletion syndrome, 1.4Mb'
http://purl.obolibrary.org/obo/GARD_0005403
http://purl.obolibrary.org/obo/GARD_0005403 EquivalentTo 'umbilical cord ulceration-intestinal atresia syndrome'
http://purl.obolibrary.org/obo/GARD_0005406
http://purl.obolibrary.org/obo/GARD_0005406 EquivalentTo 'mosaic trisomy 10'
http://purl.obolibrary.org/obo/GARD_0005429
http://purl.obolibrary.org/obo/GARD_0005429 EquivalentTo 'orotic aciduria'
http://purl.obolibrary.org/obo/GARD_0005426
http://purl.obolibrary.org/obo/GARD_0005426 EquivalentTo 'urban-Rogers-Meyer syndrome'
http://purl.obolibrary.org/obo/GARD_0005425
http://purl.obolibrary.org/obo/GARD_0005425 EquivalentTo 'urachal cyst (disease)'
http://purl.obolibrary.org/obo/GARD_0005428
http://purl.obolibrary.org/obo/GARD_0005428 EquivalentTo 'urethral obstruction sequence'
http://purl.obolibrary.org/obo/GARD_0005435
http://purl.obolibrary.org/obo/GARD_0005435 EquivalentTo 'Usher syndrome type 1'
http://purl.obolibrary.org/obo/GARD_0005430
http://purl.obolibrary.org/obo/GARD_0005430 EquivalentTo 'mullerian derivatives-lymphangiectasia-polydactyly syndrome'
http://purl.obolibrary.org/obo/GARD_0005436
http://purl.obolibrary.org/obo/GARD_0005436 EquivalentTo 'Usher syndrome type 1'
http://purl.obolibrary.org/obo/GARD_0005443
http://purl.obolibrary.org/obo/GARD_0005443 EquivalentTo 'VACTERL/vater association'
http://purl.obolibrary.org/obo/GARD_0005440
http://purl.obolibrary.org/obo/GARD_0005440 EquivalentTo 'Usher syndrome type 2A'
http://purl.obolibrary.org/obo/MESH_C536813
http://purl.obolibrary.org/obo/MESH_C536813 EquivalentTo 'partial duplication of the long arm of chromosome 3'
http://purl.obolibrary.org/obo/MESH_C536811
http://purl.obolibrary.org/obo/MESH_C536811 EquivalentTo 'partial duplication of the short arm of chromosome 3'
http://purl.obolibrary.org/obo/MESH_C536804
http://purl.obolibrary.org/obo/MESH_C536804 EquivalentTo '3p- syndrome'
http://purl.obolibrary.org/obo/GARD_0005400
http://purl.obolibrary.org/obo/GARD_0005400 EquivalentTo 'ulnar hypoplasia-split foot syndrome'
http://purl.obolibrary.org/obo/GARD_0005376
http://purl.obolibrary.org/obo/GARD_0005376 EquivalentTo 'autosomal dominant trichoodontoonychodysplasia-syndactyly'
http://purl.obolibrary.org/obo/SCTID_238436005
'alternariosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_238436005
http://purl.obolibrary.org/obo/GARD_0005388
http://purl.obolibrary.org/obo/GARD_0005388 EquivalentTo 'transient tyrosinemia of the newborn'
http://purl.obolibrary.org/obo/GARD_0005381
http://purl.obolibrary.org/obo/GARD_0005381 EquivalentTo 'tuberous sclerosis 2'
http://purl.obolibrary.org/obo/GARD_0005380
http://purl.obolibrary.org/obo/GARD_0005380 EquivalentTo 'tuberous sclerosis 1'
http://purl.obolibrary.org/obo/GARD_0005398
http://purl.obolibrary.org/obo/GARD_0005398 EquivalentTo 'ulna hypoplasia-intellectual disability syndrome'
http://purl.obolibrary.org/obo/GARD_0005394
http://purl.obolibrary.org/obo/GARD_0005394 EquivalentTo 'Ulbright-Hodes syndrome'
http://purl.obolibrary.org/obo/GARD_0005393
http://purl.obolibrary.org/obo/GARD_0005393 EquivalentTo 'Uhl anomaly'
http://purl.obolibrary.org/obo/NCIT_C120203
'46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C120203
http://purl.obolibrary.org/obo/SCTID_24225004
'Holmes-Adie syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_24225004
http://purl.obolibrary.org/obo/GARD_0005326
http://purl.obolibrary.org/obo/GARD_0005326 EquivalentTo 'partial duplication of the long arm of chromosome 19'
http://purl.obolibrary.org/obo/MESH_D002275
http://purl.obolibrary.org/obo/MESH_D002275 EquivalentTo 'carcinoid heart disease'
http://purl.obolibrary.org/obo/GARD_0005333
http://purl.obolibrary.org/obo/GARD_0005333 EquivalentTo 'trisomy 20p'
http://purl.obolibrary.org/obo/HP_0007957
http://purl.obolibrary.org/obo/GARD_0005331
http://purl.obolibrary.org/obo/GARD_0005331 EquivalentTo 'mosaic trisomy 2'
http://purl.obolibrary.org/obo/GARD_0005337
http://purl.obolibrary.org/obo/GARD_0005337 EquivalentTo 'partial duplication of the short arm of chromosome 2'
http://purl.obolibrary.org/obo/MESH_D041881
http://purl.obolibrary.org/obo/MESH_D041881 EquivalentTo 'acute cholecystitis'
http://purl.obolibrary.org/obo/GARD_0005345
http://purl.obolibrary.org/obo/GARD_0005345 EquivalentTo 'partial duplication of the long arm of chromosome 3'
http://purl.obolibrary.org/obo/GARD_0005347
http://purl.obolibrary.org/obo/GARD_0005347 EquivalentTo 'partial duplication of the long arm of chromosome 4'
http://purl.obolibrary.org/obo/GARD_0005340
http://purl.obolibrary.org/obo/GARD_0005340 EquivalentTo 'partial duplication of the long arm of chromosome 2'
http://purl.obolibrary.org/obo/GARD_0005343
http://purl.obolibrary.org/obo/GARD_0005343 EquivalentTo 'partial duplication of the short arm of chromosome 3'
http://purl.obolibrary.org/obo/GARD_0005342
http://purl.obolibrary.org/obo/GARD_0005342 EquivalentTo 'mosaic trisomy 3'
http://purl.obolibrary.org/obo/GARD_0005355
http://purl.obolibrary.org/obo/GARD_0005355 EquivalentTo 'partial duplication of the short arm of chromosome 7'
http://purl.obolibrary.org/obo/GARD_0005357
http://purl.obolibrary.org/obo/GARD_0005357 EquivalentTo 'partial duplication of the long arm of chromosome 7'
http://purl.obolibrary.org/obo/GARD_0005352
http://purl.obolibrary.org/obo/GARD_0005352 EquivalentTo 'partial duplication of the short arm of chromosome 6'
http://purl.obolibrary.org/obo/GARD_0005351
http://purl.obolibrary.org/obo/GARD_0005351 EquivalentTo 'partial trisomy of the long arm of chromosome 5'
http://purl.obolibrary.org/obo/GARD_0005353
http://purl.obolibrary.org/obo/GARD_0005353 EquivalentTo 'partial duplication of the long arm of chromosome 6'
http://purl.obolibrary.org/obo/MESH_D002283
http://purl.obolibrary.org/obo/MESH_D002283 EquivalentTo 'bronchogenic carcinoma'
http://purl.obolibrary.org/obo/GARD_0005369
http://purl.obolibrary.org/obo/GARD_0005369 EquivalentTo 'partial duplication of the long arm of chromosome X'
http://purl.obolibrary.org/obo/GARD_0005362
http://purl.obolibrary.org/obo/GARD_0005362 EquivalentTo 'trisomy 8q'
http://purl.obolibrary.org/obo/GARD_0005364
http://purl.obolibrary.org/obo/GARD_0005364 EquivalentTo 'partial trisomy of the short arm of chromosome 9'
http://purl.obolibrary.org/obo/GARD_0005361
http://purl.obolibrary.org/obo/GARD_0005361 EquivalentTo 'partial duplication of the short arm of chromosome 8'
http://purl.obolibrary.org/obo/MESH_C536799
http://purl.obolibrary.org/obo/MESH_C536799 EquivalentTo 'trisomy 22'
http://purl.obolibrary.org/obo/GARD_0003521
http://purl.obolibrary.org/obo/GARD_0003521 EquivalentTo 'Smith-Fineman-Myers syndrome'
http://purl.obolibrary.org/obo/GARD_0003524
http://purl.obolibrary.org/obo/GARD_0003524 EquivalentTo 'Mietens syndrome'
http://purl.obolibrary.org/obo/GARD_0003531
http://purl.obolibrary.org/obo/GARD_0003531 EquivalentTo 'Brunner syndrome'
http://purl.obolibrary.org/obo/GARD_0003537
http://purl.obolibrary.org/obo/GARD_0003537 EquivalentTo 'Atkin-Flaitz syndrome'
http://purl.obolibrary.org/obo/GARD_0003542
http://purl.obolibrary.org/obo/GARD_0003542 EquivalentTo 'non-syndromic X-linked intellectual disability'
http://purl.obolibrary.org/obo/SCTID_4945003
'polymicrogyria' EquivalentTo http://purl.obolibrary.org/obo/SCTID_4945003
http://purl.obolibrary.org/obo/SCTID_81077008
'acute articular rheumatism' EquivalentTo http://purl.obolibrary.org/obo/SCTID_81077008
http://purl.obolibrary.org/obo/NCIT_C26920
'brain disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C26920
http://purl.obolibrary.org/obo/GARD_0003589
http://purl.obolibrary.org/obo/GARD_0003589 EquivalentTo 'multiple benign circumferential skin creases on limbs'
http://purl.obolibrary.org/obo/GARD_0003590
http://purl.obolibrary.org/obo/GARD_0003590 EquivalentTo 'michels caskey syndrome'
http://www.ebi.ac.uk/efo/EFO_1001501
'pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001501
http://purl.obolibrary.org/obo/NCIT_C85223
'Wallerian degeneration' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C85223
http://purl.obolibrary.org/obo/NCIT_C85221
'pyridoxine deficiency anemia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C85221
http://www.ebi.ac.uk/efo/EFO_1001506
'primary angle-closure glaucoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001506
http://www.ebi.ac.uk/efo/EFO_1001502
'RASopathy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001502
http://purl.obolibrary.org/obo/NCIT_C85224
'wandering spleen' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C85224
http://purl.obolibrary.org/obo/GARD_0003545
http://purl.obolibrary.org/obo/GARD_0003545 EquivalentTo 'merlob grunebaum reisner syndrome'
http://purl.obolibrary.org/obo/GARD_0003547
http://purl.obolibrary.org/obo/GARD_0003547 EquivalentTo 'nephrotic syndrome, type 4'
http://purl.obolibrary.org/obo/GARD_0003554
http://purl.obolibrary.org/obo/GARD_0003554 EquivalentTo 'mesomelic dwarfism, Nievergelt type'
http://www.ebi.ac.uk/efo/EFO_1001518
'heavy metal poisoning' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001518
http://www.ebi.ac.uk/efo/EFO_1001517
'renal fibrosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001517
http://www.ebi.ac.uk/efo/EFO_1001513
'liver neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001513
http://purl.obolibrary.org/obo/GARD_0003555
http://purl.obolibrary.org/obo/GARD_0003555 EquivalentTo 'mesomelic dwarfism, Reinhardt-Pfeiffer type'
http://purl.obolibrary.org/obo/GARD_0003563
http://purl.obolibrary.org/obo/GARD_0003563 EquivalentTo 'metaphyseal chondrodysplasia, Spahr type'
http://purl.obolibrary.org/obo/SCTID_39963006
'infantile diarrhea' EquivalentTo http://purl.obolibrary.org/obo/SCTID_39963006
http://purl.obolibrary.org/obo/GARD_0003584
http://purl.obolibrary.org/obo/GARD_0003584 EquivalentTo 'methylmalonic aciduria and homocystinuria type cblF'
http://purl.obolibrary.org/obo/GARD_0003586
http://purl.obolibrary.org/obo/GARD_0003586 EquivalentTo 'methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency'
http://purl.obolibrary.org/obo/GARD_0003582
http://purl.obolibrary.org/obo/GARD_0003582 EquivalentTo 'methylmalonic aciduria and homocystinuria type cblD'
http://purl.obolibrary.org/obo/NCIT_C36397
'chromosome 20 trisomy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C36397
http://purl.obolibrary.org/obo/NCIT_C36396
'chromosome 8, trisomy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C36396
http://purl.obolibrary.org/obo/NCIT_C117104
'bullous systemic lupus erythematosus' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C117104
http://purl.obolibrary.org/obo/NCIT_C12328
'epididymitis (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C12328
http://purl.obolibrary.org/obo/NCIT_C26952
'trigeminal nerve disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C26952
http://purl.obolibrary.org/obo/MESH_D018934
http://purl.obolibrary.org/obo/MESH_D018934 EquivalentTo 'fournier gangrene'
http://purl.obolibrary.org/obo/NCIT_C26974
'hearing loss, mixed conductive-sensorineural' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C26974
http://purl.obolibrary.org/obo/NCIT_C26972
'external ear disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C26972
http://www.orpha.net/ORDO/Orphanet_2654
'syndesmodysplasic dwarfism' EquivalentTo http://www.orpha.net/ORDO/Orphanet_2654
http://purl.obolibrary.org/obo/NCIT_C12399
'hypophysitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C12399
http://purl.obolibrary.org/obo/MONDO_0044083
alternariosis
'alternariosis' EquivalentTo 'infectious disease' and ('realized in response to' some http://purl.obolibrary.org/obo/NCBITaxon_5598)
'alternariosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_238436005
'alternariosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001893
'alternariosis' SubClassOf 'infectious disease'
'alternariosis' SubClassOf 'realized in response to' some http://purl.obolibrary.org/obo/NCBITaxon_5598
http://purl.obolibrary.org/obo/MESH_D060487 EquivalentTo 'alternariosis'
http://purl.obolibrary.org/obo/GARD_0003406
http://purl.obolibrary.org/obo/GARD_0003406 EquivalentTo 'cataract-intellectual disability-hypogonadism syndrome'
http://purl.obolibrary.org/obo/GARD_0003407
http://purl.obolibrary.org/obo/GARD_0003407 EquivalentTo 'massa casaer ceulemans syndrome'
http://purl.obolibrary.org/obo/GARD_0003401
http://purl.obolibrary.org/obo/GARD_0003401 EquivalentTo 'Marfanoid syndrome, de Silva type'
http://purl.obolibrary.org/obo/MONDO_0044092
collagenous sprue
'collagenous sprue' SubClassOf 'metabolic disease with intestinal involvement'
'collagenous sprue' EquivalentTo http://purl.obolibrary.org/obo/SCTID_61738006
'collagenous sprue' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C45426
http://purl.obolibrary.org/obo/MESH_D064068 EquivalentTo 'collagenous sprue'
http://purl.obolibrary.org/obo/GARD_0003413
http://purl.obolibrary.org/obo/GARD_0003413 EquivalentTo 'maternal phenylketonuria'
http://purl.obolibrary.org/obo/MONDO_0044098
ovarian ectopic pregnancy
'ovarian ectopic pregnancy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_9899009
'ovarian ectopic pregnancy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C92945
http://purl.obolibrary.org/obo/MESH_D065172 EquivalentTo 'ovarian ectopic pregnancy'
'ovarian ectopic pregnancy' EquivalentTo 'ectopic pregnancy' and ('disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0000992)
'ovarian ectopic pregnancy' SubClassOf 'ovarian disease'
'ovarian ectopic pregnancy' SubClassOf 'ectopic pregnancy'
http://purl.obolibrary.org/obo/SCTID_35912001
'renal aminoaciduria' EquivalentTo http://purl.obolibrary.org/obo/SCTID_35912001
http://purl.obolibrary.org/obo/SCTID_458422009
'volvulus of midgut' EquivalentTo http://purl.obolibrary.org/obo/SCTID_458422009
http://purl.obolibrary.org/obo/SCTID_22784002
'linear scleroderma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_22784002
http://purl.obolibrary.org/obo/GARD_0003471
http://purl.obolibrary.org/obo/GARD_0003471 EquivalentTo 'meningocele (disease)'
http://purl.obolibrary.org/obo/GARD_0003473
http://purl.obolibrary.org/obo/GARD_0003473 EquivalentTo 'meningoencephalocele'
http://purl.obolibrary.org/obo/GARD_0003472
http://purl.obolibrary.org/obo/GARD_0003472 EquivalentTo 'meningococcemia'
http://purl.obolibrary.org/obo/SCTID_51178009
'sudden infant death syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_51178009
http://purl.obolibrary.org/obo/GARD_0003491
http://purl.obolibrary.org/obo/GARD_0003491 EquivalentTo 'Hern'
http://purl.obolibrary.org/obo/GARD_0003431
http://purl.obolibrary.org/obo/GARD_0003431 EquivalentTo 'mcpherson robertson cammarano syndrome'
http://purl.obolibrary.org/obo/GARD_0003430
http://purl.obolibrary.org/obo/GARD_0003430 EquivalentTo 'cleft lip/palate-intestinal malrotation-cardiopathy syndrome'
http://purl.obolibrary.org/obo/GARD_0003432
http://purl.obolibrary.org/obo/GARD_0003432 EquivalentTo 'Meacham syndrome'
http://purl.obolibrary.org/obo/GARD_0003438
http://purl.obolibrary.org/obo/GARD_0003438 EquivalentTo 'dysraphism-cleft lip/palate-limb reduction defects syndrome'
http://purl.obolibrary.org/obo/GARD_0003436
http://purl.obolibrary.org/obo/GARD_0003436 EquivalentTo 'Meckel syndrome'
http://purl.obolibrary.org/obo/GARD_0003442
http://purl.obolibrary.org/obo/GARD_0003442 EquivalentTo 'megacystis-microcolon-intestinal hypoperistalsis syndrome'
http://purl.obolibrary.org/obo/GARD_0003443
http://purl.obolibrary.org/obo/GARD_0003443 EquivalentTo 'familial visceral myopathy'
http://purl.obolibrary.org/obo/GARD_0003449
http://purl.obolibrary.org/obo/GARD_0003449 EquivalentTo 'delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome'
http://purl.obolibrary.org/obo/GARD_0003454
http://purl.obolibrary.org/obo/GARD_0003454 EquivalentTo 'alpha-2-deficient collagen disease'
http://purl.obolibrary.org/obo/GARD_0003450
http://purl.obolibrary.org/obo/GARD_0003450 EquivalentTo 'mehta lewis patton syndrome'
http://purl.obolibrary.org/obo/GARD_0003460
http://purl.obolibrary.org/obo/GARD_0003460 EquivalentTo 'familial melanoma'
http://purl.obolibrary.org/obo/NCIT_C36475
'mosaic trisomy 6' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C36475
http://purl.obolibrary.org/obo/NCIT_C36474
'ring chromosome 1' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C36474
http://purl.obolibrary.org/obo/NCIT_C36470
'chromosome 6q24-q25 deletion syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C36470
http://purl.obolibrary.org/obo/NCIT_C12481
'endotheliitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C12481
http://purl.obolibrary.org/obo/SCTID_125603006
'ankle injury' EquivalentTo http://purl.obolibrary.org/obo/SCTID_125603006
http://purl.obolibrary.org/obo/MONDO_0044101
pregnancy, cornual
'pregnancy, cornual' SubClassOf 'disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0002247
http://purl.obolibrary.org/obo/MESH_D065173 EquivalentTo 'pregnancy, cornual'
'pregnancy, cornual' SubClassOf 'uterine disease'
'pregnancy, cornual' EquivalentTo http://purl.obolibrary.org/obo/SCTID_87605005
'pregnancy, cornual' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C92761
'pregnancy, cornual' EquivalentTo 'ectopic pregnancy' and ('disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0002247)
'pregnancy, cornual' SubClassOf 'ectopic pregnancy'
http://purl.obolibrary.org/obo/GARD_0003396
http://purl.obolibrary.org/obo/GARD_0003396 EquivalentTo 'Osteocraniostenosis'
http://purl.obolibrary.org/obo/GARD_0003395
http://purl.obolibrary.org/obo/GARD_0003395 EquivalentTo 'oculotrichoanal syndrome'
http://purl.obolibrary.org/obo/GARD_0003390
http://purl.obolibrary.org/obo/GARD_0003390 EquivalentTo 'Marie Unna hereditary hypotrichosis'
http://purl.obolibrary.org/obo/MONDO_0044113
bullous systemic lupus erythematosus
'bullous systemic lupus erythematosus' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008619
'bullous systemic lupus erythematosus' SubClassOf 'systemic lupus erythematosus (disease)'
'bullous systemic lupus erythematosus' EquivalentTo http://www.orpha.net/ORDO/Orphanet_46489
'bullous systemic lupus erythematosus' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C117104
'bullous systemic lupus erythematosus' EquivalentTo http://purl.obolibrary.org/obo/SCTID_239889005
'bullous systemic lupus erythematosus' SubClassOf 'cutaneous lupus erythematosus'
http://www.orpha.net/ORDO/Orphanet_2569
'dwarfism with stiff joints and ocular abnormalities' EquivalentTo http://www.orpha.net/ORDO/Orphanet_2569
http://purl.obolibrary.org/obo/MONDO_0044141
panic disorder without agoraphobia
'panic disorder without agoraphobia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C97193
'panic disorder without agoraphobia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_56576003
'panic disorder without agoraphobia' DisjointWith 'panic disorder with agoraphobia'
'panic disorder without agoraphobia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001906
'panic disorder without agoraphobia' SubClassOf 'panic disorder'
http://purl.obolibrary.org/obo/MONDO_0044144
panic disorder with agoraphobia
'panic disorder with agoraphobia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_35607004
'panic disorder with agoraphobia' SubClassOf 'agoraphobia'
'panic disorder with agoraphobia' SubClassOf 'panic disorder'
'panic disorder with agoraphobia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C97194
'panic disorder with agoraphobia' EquivalentTo 'agoraphobia' and 'panic disorder'
'panic disorder without agoraphobia' DisjointWith 'panic disorder with agoraphobia'
http://purl.obolibrary.org/obo/NCIT_C36410
'chromosome 12p deletion' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C36410
http://purl.obolibrary.org/obo/NCIT_C36428
'trisomy 8q' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C36428
http://purl.obolibrary.org/obo/MONDO_0044138
hyalitis
'hyalitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001907
'hyalitis' SubClassOf 'vitreous body disorder'
'hyalitis' SubClassOf 'intermediate uveitis (disease)'
'hyalitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_95802009
'hyalitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C50587
http://purl.obolibrary.org/obo/MONDO_0044137
vitreous body disorder
'vitreous body disorder' SubClassOf 'connective tissue disease'
'vitreous body disorder' SubClassOf 'disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0001798
'vitreous body disorder' EquivalentTo http://purl.obolibrary.org/obo/SCTID_76682005
'vitreous body disorder' SubClassOf 'eye disease'
'vitreous body disorder' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C45256
'vitreous body disorder' EquivalentTo 'disease or disorder' and ('disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0001798)
http://purl.obolibrary.org/obo/SCTID_253967005
'central polydactyly of toes' EquivalentTo http://purl.obolibrary.org/obo/SCTID_253967005
http://purl.obolibrary.org/obo/PR_000006537
http://purl.obolibrary.org/obo/NCIT_C36469
'monosomy 21' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C36469
http://www.ebi.ac.uk/efo/EFO_1001312
'endometritis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001312
http://www.ebi.ac.uk/efo/EFO_1001311
'candidemia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001311
http://www.ebi.ac.uk/efo/EFO_1001316
'eosinophilia-myalgia syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001316
http://www.ebi.ac.uk/efo/EFO_1001315
'enzootic bovine leukosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001315
http://purl.obolibrary.org/obo/MESH_C572845
http://purl.obolibrary.org/obo/MESH_C572845 EquivalentTo 'thyroid cancer, nonmedullary, 2'
http://www.ebi.ac.uk/efo/EFO_1001324
'fascioliasis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001324
http://www.ebi.ac.uk/efo/EFO_1001320
'exanthema subitum' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001320
http://purl.obolibrary.org/obo/UBERON_0003547
http://www.ebi.ac.uk/efo/EFO_1001335
'gynatresia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001335
http://www.ebi.ac.uk/efo/EFO_1001332
'Castleman disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001332
http://www.ebi.ac.uk/efo/EFO_1001330
'Foster-Kennedy syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001330
http://www.ebi.ac.uk/efo/EFO_1001339
'heart neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001339
http://www.ebi.ac.uk/efo/EFO_1001346
'hepatopulmonary syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001346
http://www.ebi.ac.uk/efo/EFO_1001344
'hemarthrosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001344
http://www.ebi.ac.uk/efo/EFO_1001342
'helminthiasis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001342
http://www.ebi.ac.uk/efo/EFO_1001341
'heavy chain disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001341
http://purl.obolibrary.org/obo/GARD_0003300
http://purl.obolibrary.org/obo/GARD_0003300 EquivalentTo 'Lowry-MacLean syndrome'
http://www.ebi.ac.uk/efo/EFO_1001354
'Kleine-Levin syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001354
http://www.ebi.ac.uk/efo/EFO_1001353
'Klebsiella infectious disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001353
http://www.ebi.ac.uk/efo/EFO_1001351
'bacterial arthritis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001351
http://www.ebi.ac.uk/efo/EFO_1001369
'myelomeningocele' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001369
http://www.ebi.ac.uk/efo/EFO_1001363
'cubital tunnel syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001363
http://www.ebi.ac.uk/efo/EFO_1001362
'lung abscess (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001362
http://www.ebi.ac.uk/efo/EFO_1001372
'monieziasis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001372
http://www.ebi.ac.uk/efo/EFO_1001379
'neuroleptic malignant syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001379
http://www.ebi.ac.uk/efo/EFO_1001378
'neurogenic arthropathy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001378
http://www.ebi.ac.uk/efo/EFO_1001376
'necrobiotic xanthogranuloma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001376
http://www.ebi.ac.uk/efo/EFO_1001375
'myocardial ischemia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001375
http://www.ebi.ac.uk/efo/EFO_1001373
'Monteggia's fracture' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001373
http://www.ebi.ac.uk/efo/EFO_1001383
'opsoclonus-myoclonus syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001383
http://www.ebi.ac.uk/efo/EFO_1001380
'Niemann-Pick disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001380
http://www.ebi.ac.uk/efo/EFO_1001389
'peptic ulcer perforation' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001389
http://www.ebi.ac.uk/efo/EFO_1001388
'pelvic inflammatory disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001388
http://www.ebi.ac.uk/efo/EFO_1001387
'peliosis hepatis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001387
http://purl.obolibrary.org/obo/NCIT_C36501
'partial deletion of the short arm of chromosome 1' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C36501
http://purl.obolibrary.org/obo/GARD_0003356
http://purl.obolibrary.org/obo/GARD_0003356 EquivalentTo 'male pseudohermaphroditism due to defective lh molecule'
http://purl.obolibrary.org/obo/GARD_0003360
http://purl.obolibrary.org/obo/GARD_0003360 EquivalentTo 'malignant germ cell tumor'
http://purl.obolibrary.org/obo/GARD_0003369
http://purl.obolibrary.org/obo/GARD_0003369 EquivalentTo 'malignant mesenchymoma'
http://purl.obolibrary.org/obo/GARD_0003371
http://purl.obolibrary.org/obo/GARD_0003371 EquivalentTo 'malonic aciduria'
http://purl.obolibrary.org/obo/GARD_0003373
http://purl.obolibrary.org/obo/GARD_0003373 EquivalentTo 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome'
http://purl.obolibrary.org/obo/GARD_0003388
http://purl.obolibrary.org/obo/GARD_0003388 EquivalentTo 'marfanoid habitus-autosomal recessive intellectual disability syndrome'
http://purl.obolibrary.org/obo/GARD_0003382
http://purl.obolibrary.org/obo/GARD_0003382 EquivalentTo 'van den Ende-Gupta syndrome'
http://purl.obolibrary.org/obo/GARD_0003307
http://purl.obolibrary.org/obo/GARD_0003307 EquivalentTo 'X-linked intellectual disability with marfanoid habitus'
http://purl.obolibrary.org/obo/GARD_0003303
http://purl.obolibrary.org/obo/GARD_0003303 EquivalentTo 'cystic fibrosis-gastritis-megaloblastic anemia syndrome'
http://purl.obolibrary.org/obo/GARD_0003304
http://purl.obolibrary.org/obo/GARD_0003304 EquivalentTo 'transient familial neonatal hyperbilirubinemia'
http://purl.obolibrary.org/obo/GARD_0003318
http://purl.obolibrary.org/obo/GARD_0003318 EquivalentTo 'Hennekam syndrome'
http://purl.obolibrary.org/obo/GARD_0003314
http://purl.obolibrary.org/obo/GARD_0003314 EquivalentTo 'cerebellar ataxia-hypogonadism syndrome'
http://purl.obolibrary.org/obo/GARD_0003321
http://purl.obolibrary.org/obo/GARD_0003321 EquivalentTo 'lymphatic filariasis'
http://purl.obolibrary.org/obo/GARD_0003324
http://purl.obolibrary.org/obo/GARD_0003324 EquivalentTo 'Meige disease'
http://purl.obolibrary.org/obo/SCTID_102878001
'habitual spontaneous abortion' EquivalentTo http://purl.obolibrary.org/obo/SCTID_102878001
http://www.ebi.ac.uk/efo/EFO_1001302
'cytomegalovirus retinitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001302
http://www.ebi.ac.uk/efo/EFO_1001300
'cryptogenic organizing pneumonia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001300
http://purl.obolibrary.org/obo/GARD_0003342
http://purl.obolibrary.org/obo/GARD_0003342 EquivalentTo 'macroglossia'
http://www.ebi.ac.uk/efo/EFO_1001307
'dumping syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001307
http://www.ebi.ac.uk/efo/EFO_1001304
'dental enamel hypoplasia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001304
http://purl.obolibrary.org/obo/SCTID_60735000
'lagophthalmos' EquivalentTo http://purl.obolibrary.org/obo/SCTID_60735000
http://purl.obolibrary.org/obo/SCTID_195469007
'fibroepithelial polyp of the anus' EquivalentTo http://purl.obolibrary.org/obo/SCTID_195469007
http://purl.obolibrary.org/obo/GARD_0003277
http://purl.obolibrary.org/obo/GARD_0003277 EquivalentTo 'Norman-Roberts syndrome'
http://purl.obolibrary.org/obo/GARD_0003287
http://purl.obolibrary.org/obo/GARD_0003287 EquivalentTo 'loose anagen syndrome'
http://purl.obolibrary.org/obo/GARD_0003284
http://purl.obolibrary.org/obo/GARD_0003284 EquivalentTo 'long QT syndrome 1'
http://purl.obolibrary.org/obo/GARD_0003295
http://purl.obolibrary.org/obo/GARD_0003295 EquivalentTo 'oculocerebrorenal syndrome'
http://www.ebi.ac.uk/efo/EFO_1001273
'Birt-Hogg-Dube syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001273
http://www.ebi.ac.uk/efo/EFO_1001272
'bacterial pneumonia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001272
http://www.ebi.ac.uk/efo/EFO_1001271
'postmenopausal atrophic vaginitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001271
http://www.ebi.ac.uk/efo/EFO_1001279
'Brown-Sequard syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001279
http://www.ebi.ac.uk/efo/EFO_1001277
'traumatic encephalopathy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001277
http://www.ebi.ac.uk/efo/EFO_1001282
'candidiasis, invasive' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001282
http://www.ebi.ac.uk/efo/EFO_1001281
'Buruli ulcer disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001281
http://purl.obolibrary.org/obo/MONDO_0044037
livedo reticularis
'livedo reticularis' SubClassOf 'peripheral vascular disease'
'livedo reticularis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_238772004
http://purl.obolibrary.org/obo/MESH_D054068 EquivalentTo 'livedo reticularis'
'livedo reticularis' SubClassOf 'skin vascular disease'
http://purl.obolibrary.org/obo/MONDO_0044033
posterior leukoencephalopathy syndrome
'posterior leukoencephalopathy syndrome' SubClassOf 'disease HAS feature' some http://purl.obolibrary.org/obo/HP_0002352
'posterior leukoencephalopathy syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001804
'posterior leukoencephalopathy syndrome' SubClassOf 'hypertensive encephalopathy'
'posterior leukoencephalopathy syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C78598
'posterior leukoencephalopathy syndrome' SubClassOf 'syndromic disease'
'posterior leukoencephalopathy syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_450886002
http://purl.obolibrary.org/obo/MESH_D054038 EquivalentTo 'posterior leukoencephalopathy syndrome'
http://www.ebi.ac.uk/efo/EFO_1001287
'Cestode infectious disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001287
http://www.ebi.ac.uk/efo/EFO_1001286
'Caroli disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001286
http://www.ebi.ac.uk/efo/EFO_1001285
'cardiac tamponade' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001285
http://www.ebi.ac.uk/efo/EFO_1001295
'microscopic colitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001295
http://www.ebi.ac.uk/efo/EFO_1001294
'lymphocytic colitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001294
http://www.ebi.ac.uk/efo/EFO_1001293
'collagenous colitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001293
http://www.ebi.ac.uk/efo/EFO_1001291
'postpartum amenorrhea-galactorrhea syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001291
http://www.ebi.ac.uk/efo/EFO_1001290
'chorea gravidarum' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001290
http://www.ebi.ac.uk/efo/EFO_1001299
'nosocomial infection' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001299
http://www.ebi.ac.uk/efo/EFO_1001298
'coxa vara (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001298
http://www.ebi.ac.uk/efo/EFO_1001297
'tetrasomy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001297
http://purl.obolibrary.org/obo/MONDO_0044001
hearing loss, mixed conductive-sensorineural
'hearing loss, mixed conductive-sensorineural' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001803
'hearing loss, mixed conductive-sensorineural' SubClassOf 'hearing loss'
'hearing loss, mixed conductive-sensorineural' EquivalentTo http://purl.obolibrary.org/obo/SCTID_77507001
http://purl.obolibrary.org/obo/MESH_D046089 EquivalentTo 'hearing loss, mixed conductive-sensorineural'
'hearing loss, mixed conductive-sensorineural' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C26974
http://purl.obolibrary.org/obo/MONDO_0044014
postpartum thyroiditis
'postpartum thyroiditis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001428
'postpartum thyroiditis' SubClassOf 'puerperal disorder'
'postpartum thyroiditis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_52772002
'postpartum thyroiditis' SubClassOf 'autoimmune thyroid disease'
'postpartum thyroiditis' EquivalentTo 'thyroiditis (disease)' and 'puerperal disorder'
'postpartum thyroiditis' SubClassOf 'autoimmune disease of urogenital tract'
http://purl.obolibrary.org/obo/MESH_D050032 EquivalentTo 'postpartum thyroiditis'
'postpartum thyroiditis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C114389
http://purl.obolibrary.org/obo/MONDO_0044013
puerperal disorder
'puerperal disorder' EquivalentTo http://purl.obolibrary.org/obo/SCTID_362973001
'puerperal disorder' SubClassOf 'pregnancy disorder'
http://purl.obolibrary.org/obo/MESH_D011644 EquivalentTo 'puerperal disorder'
http://purl.obolibrary.org/obo/MONDO_0044067
candidiasis, invasive
'candidiasis, invasive' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C116813
http://purl.obolibrary.org/obo/MESH_D058365 EquivalentTo 'candidiasis, invasive'
'candidiasis, invasive' SubClassOf 'candidiasis'
'candidiasis, invasive' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001282
http://www.orpha.net/ORDO/Orphanet_2829
'Partington-Anderson syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_2829
http://purl.obolibrary.org/obo/MONDO_0044070
candidemia
'candidemia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001311
http://purl.obolibrary.org/obo/MESH_D058387 EquivalentTo 'candidemia'
'candidemia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_432261003
'candidemia' SubClassOf 'candidiasis, invasive'
http://purl.obolibrary.org/obo/MONDO_0044079
cardio-renal syndrome
'cardio-renal syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001262
'cardio-renal syndrome' SubClassOf 'disease HAS feature' some 'kidney failure'
'cardio-renal syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C123225
'cardio-renal syndrome' SubClassOf 'disease HAS feature' some 'heart failure'
'cardio-renal syndrome' SubClassOf 'heart failure'
http://purl.obolibrary.org/obo/MESH_D059347 EquivalentTo 'cardio-renal syndrome'
'cardio-renal syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_445236007
'cardio-renal syndrome' SubClassOf 'syndromic disease'
http://purl.obolibrary.org/obo/SCTID_387891008
'vestibulocochlear nerve neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_387891008
http://www.ebi.ac.uk/efo/EFO_1001435
'tenosynovitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001435
http://www.ebi.ac.uk/efo/EFO_1001433
'taeniasis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001433
http://www.ebi.ac.uk/efo/EFO_1001431
'suppurative thyroiditis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001431
http://www.ebi.ac.uk/efo/EFO_1001430
'sublingual gland neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001430
http://purl.obolibrary.org/obo/SCTID_107581000119103
'brain stem astrocytic neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_107581000119103
http://www.ebi.ac.uk/efo/EFO_1001446
'uterine inversion' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001446
http://www.ebi.ac.uk/efo/EFO_1001445
'tungiasis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001445
http://www.ebi.ac.uk/efo/EFO_1001444
'tularemia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001444
http://www.ebi.ac.uk/efo/EFO_1001441
'tuberculosis, bovine' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001441
http://www.ebi.ac.uk/efo/EFO_1001440
'tuberculosis, avian' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001440
http://www.ebi.ac.uk/efo/EFO_1001449
'vertebrobasilar insufficiency' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001449
http://www.ebi.ac.uk/efo/EFO_1001447
'vaginal neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001447
http://www.ebi.ac.uk/efo/EFO_1001457
'cognitive disorder' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001457
http://www.ebi.ac.uk/efo/EFO_1001456
'central nervous system infectious disorder' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001456
http://www.ebi.ac.uk/efo/EFO_1001455
'auditory system disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001455
http://www.ebi.ac.uk/efo/EFO_1001454
'amnestic disorder' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001454
http://www.ebi.ac.uk/efo/EFO_1001453
'central nervous system lupus' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001453
http://www.ebi.ac.uk/efo/EFO_1001452
'yellow nail syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001452
http://www.ebi.ac.uk/efo/EFO_1001450
'Wolff-Parkinson-white syndrome (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001450
http://www.ebi.ac.uk/efo/EFO_1001460
'diverticulitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001460
http://www.ebi.ac.uk/efo/EFO_1001467
'hypereosinophilic syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001467
http://www.ebi.ac.uk/efo/EFO_1001465
'gliosarcoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001465
http://www.ebi.ac.uk/efo/EFO_1001463
'gastroenteritis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001463
http://www.ebi.ac.uk/efo/EFO_1001462
'erysipelas' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001462
http://www.ebi.ac.uk/efo/EFO_1001469
'mantle cell lymphoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001469
http://www.ebi.ac.uk/efo/EFO_1001476
'streptococcal infection' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001476
http://www.ebi.ac.uk/efo/EFO_1001475
'schistosomiasis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001475
http://www.ebi.ac.uk/efo/EFO_1001473
'non-familial restrictive cardiomyopathy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001473
http://www.ebi.ac.uk/efo/EFO_1001472
'myelitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001472
http://www.ebi.ac.uk/efo/EFO_1001481
'enterocolitis (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001481
http://purl.obolibrary.org/obo/NCIT_C36601
'tetrasomy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C36601
http://www.ebi.ac.uk/efo/EFO_1001485
'acromegaly' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001485
http://www.ebi.ac.uk/efo/EFO_1001484
'pain agnosia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001484
http://www.ebi.ac.uk/efo/EFO_1001499
'malignant histiocytosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001499
http://www.ebi.ac.uk/efo/EFO_1001496
'autosomal dominant polycystic kidney disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001496
http://purl.obolibrary.org/obo/SCTID_72779005
'anal fistula (disease)' EquivalentTo http://purl.obolibrary.org/obo/SCTID_72779005
http://purl.obolibrary.org/obo/GARD_0003228
http://purl.obolibrary.org/obo/GARD_0003228 EquivalentTo 'maple syrup urine disease'
http://purl.obolibrary.org/obo/GARD_0003227
http://purl.obolibrary.org/obo/GARD_0003227 EquivalentTo 'lethal congenital contracture syndrome 1'
http://purl.obolibrary.org/obo/GARD_0003230
http://purl.obolibrary.org/obo/GARD_0003230 EquivalentTo 'metachromatic leukodystrophy, juvenile form'
http://purl.obolibrary.org/obo/GARD_0003244
http://purl.obolibrary.org/obo/GARD_0003244 EquivalentTo 'Leydig cell hypoplasia'
http://purl.obolibrary.org/obo/SCTID_424952003
'soft tissue sarcoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_424952003
http://purl.obolibrary.org/obo/GARD_0003242
http://purl.obolibrary.org/obo/GARD_0003242 EquivalentTo 'autosomal dominant popliteal pterygium syndrome'
http://purl.obolibrary.org/obo/GARD_0003247
http://purl.obolibrary.org/obo/GARD_0003247 EquivalentTo 'lichen planopilaris'
http://purl.obolibrary.org/obo/GARD_0003249
http://purl.obolibrary.org/obo/GARD_0003249 EquivalentTo 'iida kannari syndrome'
http://purl.obolibrary.org/obo/GARD_0003259
http://purl.obolibrary.org/obo/GARD_0003259 EquivalentTo 'linear verrucous nevus syndrome'
http://purl.obolibrary.org/obo/GARD_0003268
http://purl.obolibrary.org/obo/GARD_0003268 EquivalentTo 'lipoid proteinosis'
http://purl.obolibrary.org/obo/GARD_0003262
http://purl.obolibrary.org/obo/GARD_0003262 EquivalentTo 'neutral lipid storage disease'
http://purl.obolibrary.org/obo/GARD_0003263
http://purl.obolibrary.org/obo/GARD_0003263 EquivalentTo 'pyruvate dehydrogenase E3 deficiency'
http://www.ebi.ac.uk/efo/EFO_1001402
'postencephalitic Parkinson disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001402
http://www.ebi.ac.uk/efo/EFO_1001409
'pyomyositis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001409
http://www.ebi.ac.uk/efo/EFO_1001408
'pulmonary embolism and infarction' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001408
http://www.ebi.ac.uk/efo/EFO_1001410
'pythiosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001410
http://purl.obolibrary.org/obo/GARD_0003203
http://purl.obolibrary.org/obo/GARD_0003203 EquivalentTo 'early-onset parkinsonism-intellectual disability syndrome'
http://www.ebi.ac.uk/efo/EFO_1001419
'intestinal schistosomiasis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001419
http://www.ebi.ac.uk/efo/EFO_1001418
'salmonellosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001418
http://www.ebi.ac.uk/efo/EFO_1001415
'lichen planus, oral' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001415
http://www.ebi.ac.uk/efo/EFO_1001414
'pseudolymphoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001414
http://www.ebi.ac.uk/efo/EFO_1001424
'skin epithelioid hemangioma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001424
http://www.ebi.ac.uk/efo/EFO_1001422
'Sertoli cell-only syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001422
http://www.ebi.ac.uk/efo/EFO_1001428
'postpartum thyroiditis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001428
http://www.orpha.net/ORDO/Orphanet_240651
'prostate intraepithelial neoplasia' EquivalentTo http://www.orpha.net/ORDO/Orphanet_240651
http://purl.obolibrary.org/obo/GARD_0003196
http://purl.obolibrary.org/obo/GARD_0003196 EquivalentTo 'retinal cone dystrophy type 1'
http://purl.obolibrary.org/obo/GARD_0003198
http://purl.obolibrary.org/obo/GARD_0003198 EquivalentTo 'laterality defects, autosomal dominant'
http://purl.obolibrary.org/obo/GARD_0003192
http://purl.obolibrary.org/obo/GARD_0003192 EquivalentTo 'larynx atresia'
http://purl.obolibrary.org/obo/GARD_0003194
http://purl.obolibrary.org/obo/GARD_0003194 EquivalentTo 'larynx atresia'
http://purl.obolibrary.org/obo/PR_000016156
http://purl.obolibrary.org/obo/GARD_0003157
http://purl.obolibrary.org/obo/GARD_0003157 EquivalentTo 'lachiewicz sibley syndrome'
http://purl.obolibrary.org/obo/GARD_0003150
http://purl.obolibrary.org/obo/GARD_0003150 EquivalentTo 'arthrogryposis-like syndrome'
http://purl.obolibrary.org/obo/GARD_0003159
http://purl.obolibrary.org/obo/GARD_0003159 EquivalentTo 'glycogen storage disease due to lactate dehydrogenase deficiency'
http://purl.obolibrary.org/obo/GARD_0003168
http://purl.obolibrary.org/obo/GARD_0003168 EquivalentTo 'familial lambdoid synostosis'
http://purl.obolibrary.org/obo/GARD_0003172
http://purl.obolibrary.org/obo/GARD_0003172 EquivalentTo 'Landy-Donnai syndrome'
http://purl.obolibrary.org/obo/NCIT_C117013
'migraine with brainstem aura' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C117013
http://purl.obolibrary.org/obo/GARD_0003181
http://purl.obolibrary.org/obo/GARD_0003181 EquivalentTo 'lethal Larsen-like syndrome'
http://purl.obolibrary.org/obo/NCIT_C117007
'neurovascular disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C117007
http://www.ebi.ac.uk/efo/EFO_1001391
'periapical periodontitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001391
http://www.ebi.ac.uk/efo/EFO_1001396
'pinta disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001396
http://www.ebi.ac.uk/efo/EFO_1001395
'phlebitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001395
http://purl.obolibrary.org/obo/MESH_D004414
http://purl.obolibrary.org/obo/MESH_D004414 EquivalentTo 'psychologic dyspareunia'
http://purl.obolibrary.org/obo/NCIT_C117077
'cluster headache syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C117077
http://purl.obolibrary.org/obo/PR_000006786
http://purl.obolibrary.org/obo/SCTID_711524008
'atrophoderma of Pierini and Pasini' EquivalentTo http://purl.obolibrary.org/obo/SCTID_711524008
http://purl.obolibrary.org/obo/GARD_0003986
http://purl.obolibrary.org/obo/GARD_0003986 EquivalentTo 'familial multiple nevi flammei'
http://purl.obolibrary.org/obo/GARD_0013307
http://purl.obolibrary.org/obo/GARD_0013307 EquivalentTo 'immune-mediated necrotizing myopathy'
http://purl.obolibrary.org/obo/GARD_0003999
http://purl.obolibrary.org/obo/GARD_0003999 EquivalentTo 'ectopia lentis-chorioretinal dystrophy-myopia syndrome'
http://purl.obolibrary.org/obo/MESH_C567259
http://purl.obolibrary.org/obo/MESH_C567259 EquivalentTo 'MYP16'
http://purl.obolibrary.org/obo/GARD_0003995
http://purl.obolibrary.org/obo/GARD_0003995 EquivalentTo 'congenital stationary night blindness'
http://purl.obolibrary.org/obo/MESH_C567251
http://purl.obolibrary.org/obo/MESH_C567251 EquivalentTo 'inflammatory bowel disease 25'
http://purl.obolibrary.org/obo/GARD_0013316
http://purl.obolibrary.org/obo/GARD_0013316 EquivalentTo 'Prader-Willi syndrome due to point mutation'
http://purl.obolibrary.org/obo/MESH_C567273
http://purl.obolibrary.org/obo/MESH_C567273 EquivalentTo 'dyschromatosis universalis hereditaria 1'
http://purl.obolibrary.org/obo/GARD_0013334
http://purl.obolibrary.org/obo/GARD_0013334 EquivalentTo 'Niemann-Pick disease'
http://purl.obolibrary.org/obo/GARD_0013339
http://purl.obolibrary.org/obo/GARD_0013339 EquivalentTo 'BENTA disease'
http://purl.obolibrary.org/obo/GARD_0003949
http://purl.obolibrary.org/obo/GARD_0003949 EquivalentTo 'encephalopathy, recurrent, of childhood'
http://purl.obolibrary.org/obo/GARD_0003948
http://purl.obolibrary.org/obo/GARD_0003948 EquivalentTo 'tremor-nystagmus-duodenal ulcer syndrome'
http://purl.obolibrary.org/obo/GARD_0003945
http://purl.obolibrary.org/obo/GARD_0003945 EquivalentTo 'nephrotic syndrome ocular anomalies'
http://purl.obolibrary.org/obo/MESH_C567203
http://purl.obolibrary.org/obo/MESH_C567203 EquivalentTo 'PHARC syndrome'
http://purl.obolibrary.org/obo/GARD_0003947
http://purl.obolibrary.org/obo/GARD_0003947 EquivalentTo 'congenital isolated hyperinsulinism'
http://purl.obolibrary.org/obo/GARD_0003946
http://purl.obolibrary.org/obo/GARD_0003946 EquivalentTo 'nephrotic syndrome, type 2'
http://purl.obolibrary.org/obo/GARD_0003943
http://purl.obolibrary.org/obo/GARD_0003943 EquivalentTo 'nephrosis-deafness-urinary tract-digital malformations syndrome'
http://purl.obolibrary.org/obo/MESH_C567201
http://purl.obolibrary.org/obo/MESH_C567201 EquivalentTo 'bilateral parasagittal parieto-occipital polymicrogyria'
http://purl.obolibrary.org/obo/GARD_0003956
http://purl.obolibrary.org/obo/GARD_0003956 EquivalentTo 'chorea-acanthocytosis'
http://purl.obolibrary.org/obo/GARD_0003955
http://purl.obolibrary.org/obo/GARD_0003955 EquivalentTo 'amyotrophic neuralgia'
http://purl.obolibrary.org/obo/GARD_0003957
http://purl.obolibrary.org/obo/GARD_0003957 EquivalentTo 'infantile neuroaxonal dystrophy'
http://purl.obolibrary.org/obo/MESH_C567210
http://purl.obolibrary.org/obo/MESH_C567210 EquivalentTo 'endocrine-cerebro-osteodysplasia syndrome'
http://purl.obolibrary.org/obo/GARD_0003969
http://purl.obolibrary.org/obo/GARD_0003969 EquivalentTo 'neuronal intestinal pseudoobstruction'
http://purl.obolibrary.org/obo/GARD_0003972
http://purl.obolibrary.org/obo/GARD_0003972 EquivalentTo 'Navajo neurohepatopathy'
http://purl.obolibrary.org/obo/GARD_0003979
http://purl.obolibrary.org/obo/GARD_0003979 EquivalentTo 'Dorfman-Chanarin disease'
http://purl.obolibrary.org/obo/MESH_C567237
http://purl.obolibrary.org/obo/MESH_C567237 EquivalentTo 'ANIB10'
http://purl.obolibrary.org/obo/GARD_0003976
http://purl.obolibrary.org/obo/GARD_0003976 EquivalentTo 'hereditary sensory and autonomic neuropathy type 2'
http://purl.obolibrary.org/obo/GARD_0013391
http://purl.obolibrary.org/obo/GARD_0013391 EquivalentTo 'chromosome 2p16.1-p15 deletion syndrome'
http://purl.obolibrary.org/obo/SCTID_716746003
'alpha-2-plasmin inhibitor deficiency' EquivalentTo http://purl.obolibrary.org/obo/SCTID_716746003
http://purl.obolibrary.org/obo/SCTID_88393000
'mucopolysaccharidosis type 3' EquivalentTo http://purl.obolibrary.org/obo/SCTID_88393000
http://purl.obolibrary.org/obo/GARD_0013361
http://purl.obolibrary.org/obo/GARD_0013361 EquivalentTo 'intellectual disability, autosomal recessive 58; MRT58'
http://www.orpha.net/ORDO/Orphanet_2161
'holoacardius amorphus' EquivalentTo http://www.orpha.net/ORDO/Orphanet_2161
http://purl.obolibrary.org/obo/GARD_0013373
http://purl.obolibrary.org/obo/GARD_0013373 EquivalentTo 'GATA2 deficiency with susceptibility to MDS/AML'
http://purl.obolibrary.org/obo/GARD_0013371
http://purl.obolibrary.org/obo/GARD_0013371 EquivalentTo 'magic syndrome'
http://linkedlifedata.com/resource/umls/id/C2931737
http://linkedlifedata.com/resource/umls/id/C2931737 EquivalentTo 'toluene embryopathy'
http://purl.obolibrary.org/obo/GARD_0013381
http://purl.obolibrary.org/obo/GARD_0013381 EquivalentTo 'leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome'
http://purl.obolibrary.org/obo/SCTID_35265002
'Mallory-Weiss syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_35265002
http://purl.obolibrary.org/obo/GARD_0013379
http://purl.obolibrary.org/obo/GARD_0013379 EquivalentTo 'intellectual disability, autosomal dominant 29'
http://purl.obolibrary.org/obo/GARD_0013378
http://purl.obolibrary.org/obo/GARD_0013378 EquivalentTo 'epileptic encephalopathy, early infantile, 17'
http://purl.obolibrary.org/obo/SCTID_13272007
'mesenteric lymphadenitis due to Yersinia infection' EquivalentTo http://purl.obolibrary.org/obo/SCTID_13272007
http://purl.obolibrary.org/obo/SCTID_191384005
'wandering spleen' EquivalentTo http://purl.obolibrary.org/obo/SCTID_191384005
http://purl.obolibrary.org/obo/GARD_0003909
http://purl.obolibrary.org/obo/GARD_0003909 EquivalentTo 'methemoglobinemia due to deficiency of methemoglobin reductase'
http://www.ebi.ac.uk/efo/EFO_1001038
'melanotic neuroectodermal tumor' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001038
http://purl.obolibrary.org/obo/GARD_0003903
http://purl.obolibrary.org/obo/GARD_0003903 EquivalentTo 'alpha-N-acetylgalactosaminidase deficiency type 1'
http://purl.obolibrary.org/obo/SCTID_433068007
'thoracic aortic aneurysm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_433068007
http://purl.obolibrary.org/obo/GARD_0003916
http://purl.obolibrary.org/obo/GARD_0003916 EquivalentTo 'Nakajo-Nishimura syndrome'
http://purl.obolibrary.org/obo/GARD_0003917
http://purl.obolibrary.org/obo/GARD_0003917 EquivalentTo 'proteasome disability syndrome'
http://purl.obolibrary.org/obo/GARD_0003912
http://purl.obolibrary.org/obo/GARD_0003912 EquivalentTo 'Naegeli-Franceschetti-Jadassohn syndrome'
http://www.ebi.ac.uk/efo/EFO_1001050
'multiple system atrophy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001050
http://purl.obolibrary.org/obo/GARD_0003928
http://purl.obolibrary.org/obo/GARD_0003928 EquivalentTo 'natal teeth-intestinal pseudoobstruction-patent ductus syndrome'
http://purl.obolibrary.org/obo/GARD_0003924
http://purl.obolibrary.org/obo/GARD_0003924 EquivalentTo 'growth hormone insensitivity syndrome'
http://purl.obolibrary.org/obo/GARD_0003934
http://purl.obolibrary.org/obo/GARD_0003934 EquivalentTo 'neonatal ovarian cyst'
http://purl.obolibrary.org/obo/GARD_0003931
http://purl.obolibrary.org/obo/GARD_0003931 EquivalentTo 'negative rheumatoid factor polyarthritis'
http://www.ebi.ac.uk/efo/EFO_1001073
'optic nerve neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001073
http://www.ebi.ac.uk/efo/EFO_1001079
'oncocytic adenoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001079
http://purl.obolibrary.org/obo/MESH_C567185
http://purl.obolibrary.org/obo/MESH_C567185 EquivalentTo 'ADDWOC'
http://purl.obolibrary.org/obo/MESH_C567194
http://purl.obolibrary.org/obo/MESH_C567194 EquivalentTo 'dyschromatosis universalis hereditaria 2'
http://purl.obolibrary.org/obo/MESH_C567191
http://purl.obolibrary.org/obo/MESH_C567191 EquivalentTo 'hypospadias 3, autosomal'
http://purl.obolibrary.org/obo/MESH_C567193
http://purl.obolibrary.org/obo/MESH_C567193 EquivalentTo 'MYP15'
http://purl.obolibrary.org/obo/GARD_0003865
http://purl.obolibrary.org/obo/GARD_0003865 EquivalentTo 'ataxia-pancytopenia syndrome'
http://purl.obolibrary.org/obo/GARD_0003873
http://purl.obolibrary.org/obo/GARD_0003873 EquivalentTo 'myoclonus-cerebellar ataxia-deafness syndrome'
http://purl.obolibrary.org/obo/GARD_0003872
http://purl.obolibrary.org/obo/GARD_0003872 EquivalentTo 'progressive myoclonic epilepsy type 6'
http://linkedlifedata.com/resource/umls/id/C4054549
http://linkedlifedata.com/resource/umls/id/C4054549 EquivalentTo 'autosomal dominant medullary cystic kidney disease with or without hyperuricemia'
http://purl.obolibrary.org/obo/GARD_0013201
http://purl.obolibrary.org/obo/GARD_0013201 EquivalentTo 'hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency'
http://purl.obolibrary.org/obo/GARD_0013200
http://purl.obolibrary.org/obo/GARD_0013200 EquivalentTo 'mitochondrial DNA depletion syndrome 8a'
http://www.ebi.ac.uk/efo/EFO_1001204
'sweat gland neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001204
http://www.ebi.ac.uk/efo/EFO_1001201
'superior mesenteric artery syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001201
http://purl.obolibrary.org/obo/GARD_0003875
http://purl.obolibrary.org/obo/GARD_0003875 EquivalentTo 'spinal muscular atrophy-progressive myoclonic epilepsy syndrome'
http://purl.obolibrary.org/obo/GARD_0003876
http://purl.obolibrary.org/obo/GARD_0003876 EquivalentTo 'Unverricht-Lundborg syndrome'
http://purl.obolibrary.org/obo/MESH_C567371
http://purl.obolibrary.org/obo/MESH_C567371 EquivalentTo 'GEFSP6'
http://purl.obolibrary.org/obo/GARD_0003881
http://purl.obolibrary.org/obo/GARD_0003881 EquivalentTo 'myopathy and diabetes mellitus'
http://purl.obolibrary.org/obo/GARD_0003885
http://purl.obolibrary.org/obo/GARD_0003885 EquivalentTo 'mitochondrial myopathy and sideroblastic anemia'
http://purl.obolibrary.org/obo/GARD_0013202
http://purl.obolibrary.org/obo/GARD_0013202 EquivalentTo 'neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency'
http://purl.obolibrary.org/obo/GARD_0013206
http://purl.obolibrary.org/obo/GARD_0013206 EquivalentTo 'chromosome 2q32-q33 deletion syndrome'
http://purl.obolibrary.org/obo/GARD_0013223
http://purl.obolibrary.org/obo/GARD_0013223 EquivalentTo 'bone neoplasm'
http://purl.obolibrary.org/obo/GARD_0013222
http://purl.obolibrary.org/obo/GARD_0013222 EquivalentTo 'autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures'
http://purl.obolibrary.org/obo/GARD_0013221
http://purl.obolibrary.org/obo/GARD_0013221 EquivalentTo 'intellectual disability, X-linked 1'
http://purl.obolibrary.org/obo/GARD_0013220
http://purl.obolibrary.org/obo/GARD_0013220 EquivalentTo 'lethal congenital contracture syndrome 11; LCCS11'
http://purl.obolibrary.org/obo/GARD_0003896
http://purl.obolibrary.org/obo/GARD_0003896 EquivalentTo 'inclusion body myositis'
http://purl.obolibrary.org/obo/GARD_0013215
http://purl.obolibrary.org/obo/GARD_0013215 EquivalentTo 'renal cell carcinoma (disease)'
http://purl.obolibrary.org/obo/GARD_0013219
http://purl.obolibrary.org/obo/GARD_0013219 EquivalentTo 'BAP1-related tumor predisposition syndrome'
http://purl.obolibrary.org/obo/GARD_0013218
http://purl.obolibrary.org/obo/GARD_0013218 EquivalentTo 'hereditary sclerosing poikiloderma with tendon and pulmonary involvement'
http://purl.obolibrary.org/obo/GARD_0003824
http://purl.obolibrary.org/obo/GARD_0003824 EquivalentTo 'multiple carboxylase deficiency'
http://www.ebi.ac.uk/efo/EFO_1001230
'uveal cancer' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001230
http://purl.obolibrary.org/obo/MESH_C567337
http://purl.obolibrary.org/obo/MESH_C567337 EquivalentTo 'Cowden syndrome 2'
http://purl.obolibrary.org/obo/GARD_0003836
http://purl.obolibrary.org/obo/GARD_0003836 EquivalentTo 'multiple synostoses syndrome 1'
http://www.ebi.ac.uk/efo/EFO_1001259
'Adams-Stokes syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001259
http://purl.obolibrary.org/obo/GARD_0003845
http://purl.obolibrary.org/obo/GARD_0003845 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2A'
http://www.ebi.ac.uk/efo/EFO_1001256
'acne keloid' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001256
http://purl.obolibrary.org/obo/GARD_0003842
http://purl.obolibrary.org/obo/GARD_0003842 EquivalentTo 'congenital muscular dystrophy-infantile cataract-hypogonadism syndrome'
http://www.ebi.ac.uk/efo/EFO_1001254
'noise induced hearing loss' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001254
http://purl.obolibrary.org/obo/GARD_0003844
http://purl.obolibrary.org/obo/GARD_0003844 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2H'
http://purl.obolibrary.org/obo/GARD_0003843
http://purl.obolibrary.org/obo/GARD_0003843 EquivalentTo 'congenital merosin-deficient muscular dystrophy 1A'
http://www.ebi.ac.uk/efo/EFO_1001252
'gastric cardia carcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001252
http://purl.obolibrary.org/obo/GARD_0003851
http://purl.obolibrary.org/obo/GARD_0003851 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2E'
http://www.ebi.ac.uk/efo/EFO_1001262
'cardio-renal syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001262
http://www.ebi.ac.uk/efo/EFO_1001260
'alcoholic psychosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001260
http://purl.obolibrary.org/obo/GO_0008080
http://www.ebi.ac.uk/efo/EFO_1001267
'aorta coarctation' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001267
http://www.ebi.ac.uk/efo/EFO_1001266
'aniseikonia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001266
http://purl.obolibrary.org/obo/GARD_0003862
http://purl.obolibrary.org/obo/GARD_0003862 EquivalentTo 'mycetoma'
http://purl.obolibrary.org/obo/GARD_0013273
http://purl.obolibrary.org/obo/GARD_0013273 EquivalentTo 'PSAT deficiency'
http://purl.obolibrary.org/obo/GARD_0013270
http://purl.obolibrary.org/obo/GARD_0013270 EquivalentTo 'extranodal nasal NK/T cell lymphoma'
http://purl.obolibrary.org/obo/GARD_0013296
http://purl.obolibrary.org/obo/GARD_0013296 EquivalentTo 'chromosome 17q12 duplication syndrome'
http://purl.obolibrary.org/obo/GARD_0013295
http://purl.obolibrary.org/obo/GARD_0013295 EquivalentTo 'familial focal epilepsy with variable foci'
http://purl.obolibrary.org/obo/GARD_0013293
http://purl.obolibrary.org/obo/GARD_0013293 EquivalentTo 'platelet-type bleeding disorder 11'
http://purl.obolibrary.org/obo/GARD_0013298
http://purl.obolibrary.org/obo/GARD_0013298 EquivalentTo 'mitochondrial DNA depletion syndrome 13'
http://purl.obolibrary.org/obo/GARD_0013297
http://purl.obolibrary.org/obo/GARD_0013297 EquivalentTo 'chromosome 17q12 deletion syndrome'
http://purl.obolibrary.org/obo/NCIT_C103184
'congenital genu recurvatum' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C103184
http://purl.obolibrary.org/obo/MESH_C567317
http://purl.obolibrary.org/obo/MESH_C567317 EquivalentTo 'AGA3'
http://purl.obolibrary.org/obo/MESH_C567319
http://purl.obolibrary.org/obo/MESH_C567319 EquivalentTo 'torsion dystonia 17'
http://purl.obolibrary.org/obo/GARD_0013233
http://purl.obolibrary.org/obo/GARD_0013233 EquivalentTo 'acute necrotizing encephalitis'
http://purl.obolibrary.org/obo/GARD_0013232
http://purl.obolibrary.org/obo/GARD_0013232 EquivalentTo 'familial acute necrotizing encephalopathy'
http://purl.obolibrary.org/obo/GARD_0013244
http://purl.obolibrary.org/obo/GARD_0013244 EquivalentTo 'X-linked intellectual disability, Cabezas type'
http://purl.obolibrary.org/obo/GARD_0013237
http://purl.obolibrary.org/obo/GARD_0013237 EquivalentTo 'marginal zone lymphoma'
http://purl.obolibrary.org/obo/GARD_0013256
http://purl.obolibrary.org/obo/GARD_0013256 EquivalentTo 'IgG4-related pachymeningitis'
http://www.orpha.net/ORDO/Orphanet_2051
'Fraser-like syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_2051
http://purl.obolibrary.org/obo/NCIT_C26684
'radiation-induced disorder' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C26684
http://purl.obolibrary.org/obo/SCTID_423709000
'drug-resistant tuberculosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_423709000
http://purl.obolibrary.org/obo/GARD_0013197
http://purl.obolibrary.org/obo/GARD_0013197 EquivalentTo 'childhood onset epileptic encephalopathy'
http://purl.obolibrary.org/obo/GARD_0013199
http://purl.obolibrary.org/obo/GARD_0013199 EquivalentTo 'cystic leukoencephalopathy without megalencephaly'
http://purl.obolibrary.org/obo/SCTID_722955006
'chronic lymphoproliferative disorder of NK-cells' EquivalentTo http://purl.obolibrary.org/obo/SCTID_722955006
http://purl.obolibrary.org/obo/ICD10_J13
http://purl.obolibrary.org/obo/ICD10_J13 EquivalentTo 'streptococcal pneumonia'
http://purl.obolibrary.org/obo/GARD_0003807
http://purl.obolibrary.org/obo/GARD_0003807 EquivalentTo 'mucopolysaccharidosis type 3'
http://purl.obolibrary.org/obo/GARD_0003800
http://purl.obolibrary.org/obo/GARD_0003800 EquivalentTo 'melorheostosis with osteopoikilosis'
http://purl.obolibrary.org/obo/GARD_0003812
http://purl.obolibrary.org/obo/GARD_0003812 EquivalentTo 'cerebral malformation, seizures, hypertrichosis, and overlapping fingers'
http://www.ebi.ac.uk/efo/EFO_1001188
'space motion sickness' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001188
http://purl.obolibrary.org/obo/MESH_C567283
http://purl.obolibrary.org/obo/MESH_C567283 EquivalentTo 'IHPS5'
http://purl.obolibrary.org/obo/MESH_C567288
http://purl.obolibrary.org/obo/MESH_C567288 EquivalentTo 'SLI4'
http://purl.obolibrary.org/obo/GARD_0003746
http://purl.obolibrary.org/obo/GARD_0003746 EquivalentTo '2q24 microdeletion syndrome'
http://purl.obolibrary.org/obo/MESH_C567009
http://purl.obolibrary.org/obo/MESH_C567009 EquivalentTo 'leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome'
http://purl.obolibrary.org/obo/MESH_C567008
http://purl.obolibrary.org/obo/MESH_C567008 EquivalentTo 'MRT4'
http://purl.obolibrary.org/obo/GARD_0003744
http://purl.obolibrary.org/obo/GARD_0003744 EquivalentTo 'partial deletion of the long arm of chromosome 2'
http://purl.obolibrary.org/obo/GARD_0003750
http://purl.obolibrary.org/obo/GARD_0003750 EquivalentTo '3p- syndrome'
http://purl.obolibrary.org/obo/SCTID_56038003
'staphylococcal infection' EquivalentTo http://purl.obolibrary.org/obo/SCTID_56038003
http://purl.obolibrary.org/obo/ICD10_G51
http://purl.obolibrary.org/obo/ICD10_G51 EquivalentTo 'facial nerve disease'
http://purl.obolibrary.org/obo/GARD_0003760
http://purl.obolibrary.org/obo/GARD_0003760 EquivalentTo 'partial deletion of the long arm of chromosome 6'
http://purl.obolibrary.org/obo/MESH_C567012
http://purl.obolibrary.org/obo/MESH_C567012 EquivalentTo 'MRT11'
http://purl.obolibrary.org/obo/MESH_C567011
http://purl.obolibrary.org/obo/MESH_C567011 EquivalentTo 'HPC10'
http://purl.obolibrary.org/obo/MESH_C567014
http://purl.obolibrary.org/obo/MESH_C567014 EquivalentTo 'MRT9'
http://purl.obolibrary.org/obo/MESH_C567013
http://purl.obolibrary.org/obo/MESH_C567013 EquivalentTo 'MRT10'
http://purl.obolibrary.org/obo/GARD_0003769
http://purl.obolibrary.org/obo/GARD_0003769 EquivalentTo '8p23.1 microdeletion syndrome'
http://purl.obolibrary.org/obo/GARD_0003768
http://purl.obolibrary.org/obo/GARD_0003768 EquivalentTo 'partial deletion of the short arm of chromosome 8'
http://purl.obolibrary.org/obo/GARD_0003765
http://purl.obolibrary.org/obo/GARD_0003765 EquivalentTo 'partial deletion of the long arm of chromosome 7'
http://purl.obolibrary.org/obo/GARD_0003764
http://purl.obolibrary.org/obo/GARD_0003764 EquivalentTo 'chromosome 6q24-q25 deletion syndrome'
http://purl.obolibrary.org/obo/GARD_0003773
http://purl.obolibrary.org/obo/GARD_0003773 EquivalentTo 'chromosome 9p deletion syndrome'
http://purl.obolibrary.org/obo/GARD_0003770
http://purl.obolibrary.org/obo/GARD_0003770 EquivalentTo 'partial deletion of the long arm of chromosome 8'
http://purl.obolibrary.org/obo/GARD_0003785
http://purl.obolibrary.org/obo/GARD_0003785 EquivalentTo 'mucopolysaccharidosis type 4A'
http://purl.obolibrary.org/obo/GARD_0003705
http://purl.obolibrary.org/obo/GARD_0003705 EquivalentTo 'sulfite oxidase deficiency due to molybdenum cofactor deficiency'
http://purl.obolibrary.org/obo/GARD_0003704
http://purl.obolibrary.org/obo/GARD_0003704 EquivalentTo 'choroidal atrophy-alopecia syndrome'
http://purl.obolibrary.org/obo/GARD_0003701
http://purl.obolibrary.org/obo/GARD_0003701 EquivalentTo 'orofaciodigital syndrome type II'
http://purl.obolibrary.org/obo/GARD_0003711
http://purl.obolibrary.org/obo/GARD_0003711 EquivalentTo 'distal 10q deletion syndrome'
http://www.orpha.net/ORDO/Orphanet_58220
'microscopic colitis' EquivalentTo http://www.orpha.net/ORDO/Orphanet_58220
http://purl.obolibrary.org/obo/GARD_0003726
http://purl.obolibrary.org/obo/GARD_0003726 EquivalentTo 'chromosome 18 mosaic monosomy'
http://purl.obolibrary.org/obo/GARD_0003722
http://purl.obolibrary.org/obo/GARD_0003722 EquivalentTo 'partial deletion of the long arm of chromosome 14'
http://purl.obolibrary.org/obo/GARD_0003730
http://purl.obolibrary.org/obo/GARD_0003730 EquivalentTo 'partial deletion of the short arm of chromosome 1'
http://purl.obolibrary.org/obo/GARD_0003739
http://purl.obolibrary.org/obo/GARD_0003739 EquivalentTo 'partial monosomy of the short arm of chromosome 20'
http://purl.obolibrary.org/obo/ECTO_0000231
http://purl.obolibrary.org/obo/NCIT_C26700
'infective arthritis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C26700
http://purl.obolibrary.org/obo/NCIT_C85013
'pityriasis lichenoides' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C85013
http://purl.obolibrary.org/obo/NCIT_C85012
'piriformis syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C85012
http://purl.obolibrary.org/obo/GARD_0013175
http://purl.obolibrary.org/obo/GARD_0013175 EquivalentTo 'renal medullary carcinoma'
http://purl.obolibrary.org/obo/GARD_0013179
http://purl.obolibrary.org/obo/GARD_0013179 EquivalentTo 'intellectual disability, autosomal dominant 43'
http://purl.obolibrary.org/obo/GARD_0013177
http://purl.obolibrary.org/obo/GARD_0013177 EquivalentTo 'hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase'
http://purl.obolibrary.org/obo/GARD_0013113
http://purl.obolibrary.org/obo/GARD_0013113 EquivalentTo 'fever-associated acute infantile liver failure syndrome'
http://purl.obolibrary.org/obo/GARD_0013112
http://purl.obolibrary.org/obo/GARD_0013112 EquivalentTo 'ataxia with oculomotor apraxia type 3'
http://purl.obolibrary.org/obo/GARD_0003787
http://purl.obolibrary.org/obo/GARD_0003787 EquivalentTo 'VIPoma'
http://purl.obolibrary.org/obo/GARD_0003786
http://purl.obolibrary.org/obo/GARD_0003786 EquivalentTo 'mucopolysaccharidosis type 4B'
http://purl.obolibrary.org/obo/GARD_0003788
http://purl.obolibrary.org/obo/GARD_0003788 EquivalentTo 'holoprosencephaly-hypokinesia-congenital contractures syndrome'
http://purl.obolibrary.org/obo/GARD_0003793
http://purl.obolibrary.org/obo/GARD_0003793 EquivalentTo 'Mounier-Kuhn syndrome'
http://purl.obolibrary.org/obo/GARD_0003795
http://purl.obolibrary.org/obo/GARD_0003795 EquivalentTo 'spastic ataxia-corneal dystrophy syndrome'
http://purl.obolibrary.org/obo/GARD_0013105
http://purl.obolibrary.org/obo/GARD_0013105 EquivalentTo 'Dent disease'
http://purl.obolibrary.org/obo/GARD_0013103
http://purl.obolibrary.org/obo/GARD_0013103 EquivalentTo 'adult T-cell leukemia/lymphoma'
http://purl.obolibrary.org/obo/GARD_0013108
http://purl.obolibrary.org/obo/GARD_0013108 EquivalentTo 'mirage syndrome; mirage'
http://purl.obolibrary.org/obo/GARD_0013107
http://purl.obolibrary.org/obo/GARD_0013107 EquivalentTo 'endometrial adenosquamous carcinoma'
http://purl.obolibrary.org/obo/GARD_0013114
http://purl.obolibrary.org/obo/GARD_0013114 EquivalentTo 'infantile liver failure syndrome 1'
http://purl.obolibrary.org/obo/SCTID_111318005
'congenital pulmonary airway malformation' EquivalentTo http://purl.obolibrary.org/obo/SCTID_111318005
http://purl.obolibrary.org/obo/GARD_0013119
http://purl.obolibrary.org/obo/GARD_0013119 EquivalentTo 'granulomatous mastitis'
http://purl.obolibrary.org/obo/MESH_D004198
http://purl.obolibrary.org/obo/MESH_D004198 EquivalentTo 'disease susceptibility'
http://purl.obolibrary.org/obo/NCIT_C85039
'pulmonary venoocclusive disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C85039
http://purl.obolibrary.org/obo/GARD_0013125
http://purl.obolibrary.org/obo/GARD_0013125 EquivalentTo 'CIDEC-related familial partial lipodystrophy'
http://purl.obolibrary.org/obo/NCIT_C85025
'progressive non-fluent aphasia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C85025
http://purl.obolibrary.org/obo/GARD_0013137
http://purl.obolibrary.org/obo/GARD_0013137 EquivalentTo 'methylmalonic acidemia with homocystinuria, type cblX'
http://purl.obolibrary.org/obo/GARD_0013136
http://purl.obolibrary.org/obo/GARD_0013136 EquivalentTo 'intellectual disability, autosomal dominant 30'
http://purl.obolibrary.org/obo/MESH_D018778
http://purl.obolibrary.org/obo/MESH_D018778 EquivalentTo 'Hantavirus infectious disease'
http://purl.obolibrary.org/obo/GARD_0013073
http://purl.obolibrary.org/obo/GARD_0013073 EquivalentTo 'nevus comedonicus syndrome'
http://purl.obolibrary.org/obo/GARD_0013079
http://purl.obolibrary.org/obo/GARD_0013079 EquivalentTo 'maculopapular cutaneous mastocytosis'
http://purl.obolibrary.org/obo/GARD_0013072
http://purl.obolibrary.org/obo/GARD_0013072 EquivalentTo 'intestinal hypomagnesemia 1'
http://purl.obolibrary.org/obo/GARD_0013085
http://purl.obolibrary.org/obo/GARD_0013085 EquivalentTo 'epileptic encephalopathy, early infantile, 13'
http://purl.obolibrary.org/obo/GARD_0013090
http://purl.obolibrary.org/obo/GARD_0013090 EquivalentTo 'small intestine adenocarcinoma'
http://purl.obolibrary.org/obo/GARD_0013093
http://purl.obolibrary.org/obo/GARD_0013093 EquivalentTo 'X-linked intellectual disability-cerebellar hypoplasia syndrome'
http://linkedlifedata.com/resource/umls/id/C1279186
http://linkedlifedata.com/resource/umls/id/C1279186 EquivalentTo 'Westphal disease'
http://purl.obolibrary.org/obo/MESH_D018702
http://purl.obolibrary.org/obo/MESH_D018702 EquivalentTo 'Filoviridae infectious disease'
http://purl.obolibrary.org/obo/MESH_D018701
http://purl.obolibrary.org/obo/MESH_D018701 EquivalentTo 'Mononegavirales infectious disease'
http://purl.obolibrary.org/obo/SCTID_111524003
'noninfectious dermatoses of eyelid' EquivalentTo http://purl.obolibrary.org/obo/SCTID_111524003
http://purl.obolibrary.org/obo/NCIT_C26756
'dyspepsia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C26756
http://purl.obolibrary.org/obo/NCIT_C26765
'enteritis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C26765
http://purl.obolibrary.org/obo/NCIT_C26766
'epistaxis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C26766
http://purl.obolibrary.org/obo/SCTID_254642004
'lung adenoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254642004
http://purl.obolibrary.org/obo/PR_000006427
http://purl.obolibrary.org/obo/NCIT_C26786
'gonadal disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C26786
http://purl.obolibrary.org/obo/GARD_0003629
http://purl.obolibrary.org/obo/GARD_0003629 EquivalentTo 'microcephaly microphthalmos blindness'
http://purl.obolibrary.org/obo/MESH_C567126
http://purl.obolibrary.org/obo/MESH_C567126 EquivalentTo 'hypotonia with lactic acidemia and hyperammonemia'
http://purl.obolibrary.org/obo/GARD_0003628
http://purl.obolibrary.org/obo/GARD_0003628 EquivalentTo 'microcephaly micropenis convulsions'
http://purl.obolibrary.org/obo/GARD_0003622
http://purl.obolibrary.org/obo/GARD_0003622 EquivalentTo 'microcephaly with or without chorioretinopathy, lymphedema, or mental retardation'
http://purl.obolibrary.org/obo/GARD_0003630
http://purl.obolibrary.org/obo/GARD_0003630 EquivalentTo 'isolated microcephaly'
http://purl.obolibrary.org/obo/SCTID_75544000
'opiate dependence' EquivalentTo http://purl.obolibrary.org/obo/SCTID_75544000
http://purl.obolibrary.org/obo/GARD_0003637
http://purl.obolibrary.org/obo/GARD_0003637 EquivalentTo 'microcornea-glaucoma-absent frontal sinuses syndrome'
http://purl.obolibrary.org/obo/GARD_0003636
http://purl.obolibrary.org/obo/GARD_0003636 EquivalentTo 'microcornea-corectopia-macular hypoplasia syndrome'
http://purl.obolibrary.org/obo/GARD_0003638
http://purl.obolibrary.org/obo/GARD_0003638 EquivalentTo 'microdontia hypodontia short stature'
http://purl.obolibrary.org/obo/GARD_0003633
http://purl.obolibrary.org/obo/GARD_0003633 EquivalentTo 'microcephaly sparse hair mental retardation seizures'
http://purl.obolibrary.org/obo/GARD_0003632
http://purl.obolibrary.org/obo/GARD_0003632 EquivalentTo 'microcephaly-seizures-intellectual disability-heart disease syndrome'
http://purl.obolibrary.org/obo/GARD_0003640
http://purl.obolibrary.org/obo/GARD_0003640 EquivalentTo 'microgastria-limb reduction defect syndrome'
http://purl.obolibrary.org/obo/GARD_0003642
http://purl.obolibrary.org/obo/GARD_0003642 EquivalentTo 'micromelic dwarfism, Fryns type'
http://purl.obolibrary.org/obo/MESH_C567131
http://purl.obolibrary.org/obo/MESH_C567131 EquivalentTo 'DYTCA'
http://purl.obolibrary.org/obo/MESH_C567147
http://purl.obolibrary.org/obo/MESH_C567147 EquivalentTo 'amelogenesis imperfecta type 1C'
http://purl.obolibrary.org/obo/NCIT_C85197
'Treponema infectious disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C85197
http://purl.obolibrary.org/obo/GARD_0003643
http://purl.obolibrary.org/obo/GARD_0003643 EquivalentTo 'autosomal dominant omodysplasia'
http://purl.obolibrary.org/obo/GARD_0003645
http://purl.obolibrary.org/obo/GARD_0003645 EquivalentTo 'microphthalmia with brain and digit anomalies'
http://purl.obolibrary.org/obo/GARD_0003650
http://purl.obolibrary.org/obo/GARD_0003650 EquivalentTo 'microphthalmia microtia fetal akinesia'
http://purl.obolibrary.org/obo/GARD_0003653
http://purl.obolibrary.org/obo/GARD_0003653 EquivalentTo 'oculoauriculovertebral spectrum with radial defects'
http://www.orpha.net/ORDO/Orphanet_117685
'cholelithiasis' EquivalentTo http://www.orpha.net/ORDO/Orphanet_117685
http://purl.obolibrary.org/obo/GARD_0003657
http://purl.obolibrary.org/obo/GARD_0003657 EquivalentTo 'microtia with meatal atresia and conductive deafness'
http://purl.obolibrary.org/obo/SCTID_51105006
'Ureaplasma urethritis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_51105006
http://purl.obolibrary.org/obo/GARD_0003609
http://purl.obolibrary.org/obo/GARD_0003609 EquivalentTo 'microcephaly-cardiomyopathy syndrome'
http://purl.obolibrary.org/obo/GARD_0003603
http://purl.obolibrary.org/obo/GARD_0003603 EquivalentTo 'microcephaly (disease)'
http://purl.obolibrary.org/obo/MESH_C567109
http://purl.obolibrary.org/obo/MESH_C567109 EquivalentTo 'primary hypergonadotropic hypogonadism-partial alopecia syndrome'
http://purl.obolibrary.org/obo/NCIT_C26816
'leukopenia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C26816
http://purl.obolibrary.org/obo/MESH_C567115
http://purl.obolibrary.org/obo/MESH_C567115 EquivalentTo 'combined immunodeficiency with skin granulomas'
http://purl.obolibrary.org/obo/GARD_0003610
http://purl.obolibrary.org/obo/GARD_0003610 EquivalentTo 'microcephaly-cervical spine fusion anomalies syndrome'
http://purl.obolibrary.org/obo/SCTID_71779008
'hydrocephalus with stenosis of the aqueduct of Sylvius' EquivalentTo http://purl.obolibrary.org/obo/SCTID_71779008
http://purl.obolibrary.org/obo/NCIT_C26826
'mediastinal diseases' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C26826
http://purl.obolibrary.org/obo/GARD_0013032
http://purl.obolibrary.org/obo/GARD_0013032 EquivalentTo 'complex cortical dysplasia with other brain malformations 1'
http://purl.obolibrary.org/obo/GARD_0013034
http://purl.obolibrary.org/obo/GARD_0013034 EquivalentTo 'pancreatic neuroendocrine tumor'
http://purl.obolibrary.org/obo/NCIT_C36194
'rare deafness' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C36194
http://purl.obolibrary.org/obo/GARD_0013043
http://purl.obolibrary.org/obo/GARD_0013043 EquivalentTo 'intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome'
http://purl.obolibrary.org/obo/GARD_0013042
http://purl.obolibrary.org/obo/GARD_0013042 EquivalentTo 'multicentric carpo-tarsal osteolysis with or without nephropathy'
http://purl.obolibrary.org/obo/GARD_0013041
http://purl.obolibrary.org/obo/GARD_0013041 EquivalentTo 'thrombophilia due to protein C deficiency, autosomal recessive'
http://purl.obolibrary.org/obo/GARD_0013047
http://purl.obolibrary.org/obo/GARD_0013047 EquivalentTo 'testicular germ cell tumor'
http://purl.obolibrary.org/obo/GARD_0013046
http://purl.obolibrary.org/obo/GARD_0013046 EquivalentTo 'giant cell tumor of bone (disease)'
http://purl.obolibrary.org/obo/GARD_0013063
http://purl.obolibrary.org/obo/GARD_0013063 EquivalentTo 'Bockenheimer syndrome'
http://purl.obolibrary.org/obo/GARD_0013060
http://purl.obolibrary.org/obo/GARD_0013060 EquivalentTo 'KCNQ2-related epileptic encephalopathy'
http://purl.obolibrary.org/obo/GARD_0003669
http://purl.obolibrary.org/obo/GARD_0003669 EquivalentTo 'Miller-Dieker lissencephaly syndrome'
http://purl.obolibrary.org/obo/GARD_0003668
http://purl.obolibrary.org/obo/GARD_0003668 EquivalentTo 'Miller Fisher syndrome'
http://purl.obolibrary.org/obo/GARD_0003671
http://purl.obolibrary.org/obo/GARD_0003671 EquivalentTo 'maternally-inherited Leigh syndrome'
http://purl.obolibrary.org/obo/GARD_0013000
http://purl.obolibrary.org/obo/GARD_0013000 EquivalentTo 'partial deletion of the long arm of chromosome 18'
http://purl.obolibrary.org/obo/GARD_0003685
http://purl.obolibrary.org/obo/GARD_0003685 EquivalentTo 'mitral atresia (disease)'
http://purl.obolibrary.org/obo/GARD_0013011
http://purl.obolibrary.org/obo/GARD_0013011 EquivalentTo 'Anti-neutrophil cytoplasmic antibody-associated vasculitis'
http://purl.obolibrary.org/obo/GARD_0003688
http://purl.obolibrary.org/obo/GARD_0003688 EquivalentTo 'MVP1'
http://purl.obolibrary.org/obo/GARD_0003687
http://purl.obolibrary.org/obo/GARD_0003687 EquivalentTo 'familial mitral valve prolapse'
http://purl.obolibrary.org/obo/GARD_0003697
http://purl.obolibrary.org/obo/GARD_0003697 EquivalentTo 'maturity-onset diabetes of the young (disease)'
http://purl.obolibrary.org/obo/GARD_0003690
http://purl.obolibrary.org/obo/GARD_0003690 EquivalentTo 'melorheostosis with osteopoikilosis'
http://purl.obolibrary.org/obo/GARD_0003693
http://purl.obolibrary.org/obo/GARD_0003693 EquivalentTo 'MMEP syndrome'
http://purl.obolibrary.org/obo/GARD_0003692
http://purl.obolibrary.org/obo/GARD_0003692 EquivalentTo 'syndromic microphthalmia type 5'
http://purl.obolibrary.org/obo/GARD_0013007
http://purl.obolibrary.org/obo/GARD_0013007 EquivalentTo 'hemoglobin M disease'
http://purl.obolibrary.org/obo/GARD_0013020
http://purl.obolibrary.org/obo/GARD_0013020 EquivalentTo 'microcystic lymphatic malformation'
http://purl.obolibrary.org/obo/GARD_0013022
http://purl.obolibrary.org/obo/GARD_0013022 EquivalentTo 'germ cell tumor'
http://purl.obolibrary.org/obo/GARD_0013018
http://purl.obolibrary.org/obo/GARD_0013018 EquivalentTo 'chromosome 10q23 deletion syndrome'
http://purl.obolibrary.org/obo/GARD_0013016
http://purl.obolibrary.org/obo/GARD_0013016 EquivalentTo 'immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome'
http://purl.obolibrary.org/obo/GARD_0013019
http://purl.obolibrary.org/obo/GARD_0013019 EquivalentTo 'mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency'
http://purl.obolibrary.org/obo/SCTID_398318005
'fournier gangrene' EquivalentTo http://purl.obolibrary.org/obo/SCTID_398318005
http://purl.obolibrary.org/obo/NCIT_C85204
'triploidy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C85204
http://purl.obolibrary.org/obo/MESH_C567084
http://purl.obolibrary.org/obo/MESH_C567084 EquivalentTo 'neuronopathy, distal hereditary motor, type 2B'
http://purl.obolibrary.org/obo/MESH_C567095
http://purl.obolibrary.org/obo/MESH_C567095 EquivalentTo 'progressive myoclonic epilepsy type 3'
http://purl.obolibrary.org/obo/MESH_C567098
http://purl.obolibrary.org/obo/MESH_C567098 EquivalentTo 'FAME3'
http://purl.obolibrary.org/obo/NCIT_C26870
'thrombocytopenic purpura' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C26870
http://purl.obolibrary.org/obo/MESH_C567050
http://purl.obolibrary.org/obo/MESH_C567050 EquivalentTo 'PSNP3'
http://purl.obolibrary.org/obo/NCIT_C26895
'laryngeal tuberculosis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C26895
http://purl.obolibrary.org/obo/NCIT_C36218
'myelophthisic anemia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C36218
http://purl.obolibrary.org/obo/MESH_C567074
http://purl.obolibrary.org/obo/MESH_C567074 EquivalentTo 'MAFD5'
http://purl.obolibrary.org/obo/MESH_C567073
http://purl.obolibrary.org/obo/MESH_C567073 EquivalentTo 'MAFD4'
http://purl.obolibrary.org/obo/MESH_C567075
http://purl.obolibrary.org/obo/MESH_C567075 EquivalentTo 'MAFD6'
http://purl.obolibrary.org/obo/NCIT_C99004
'congenital partial pulmonary venous return anomaly' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C99004
http://purl.obolibrary.org/obo/MESH_D057792
http://purl.obolibrary.org/obo/MESH_D057792 EquivalentTo 'mirizzi syndrome'
http://purl.obolibrary.org/obo/NCIT_C99058
'shone complex' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C99058
http://purl.obolibrary.org/obo/SCTID_448563005
'non-functioning pituitary gland neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_448563005
http://purl.obolibrary.org/obo/MESH_D018174
http://purl.obolibrary.org/obo/MESH_D018174 EquivalentTo 'Arterivirus infectious disease'
http://purl.obolibrary.org/obo/MESH_D018176
http://purl.obolibrary.org/obo/MESH_D018176 EquivalentTo 'Torovirus infectious disease'
http://purl.obolibrary.org/obo/NCIT_C99055
'sacrococcygeal teratoma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C99055
http://purl.obolibrary.org/obo/MESH_D018178
http://purl.obolibrary.org/obo/MESH_D018178 EquivalentTo 'Flaviviridae infectious disease'
http://purl.obolibrary.org/obo/MESH_C567699
http://purl.obolibrary.org/obo/MESH_C567699 EquivalentTo 'amyotrophic lateral sclerosis type 6'
http://purl.obolibrary.org/obo/NCIT_C99037
'pyruvate kinase deficiency of red cells' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C99037
http://purl.obolibrary.org/obo/MESH_D018184
http://purl.obolibrary.org/obo/MESH_D018184 EquivalentTo 'Paramyxoviridae infectious disease'
http://purl.obolibrary.org/obo/MESH_D018185
http://purl.obolibrary.org/obo/MESH_D018185 EquivalentTo 'Morbillivirus infectious disease'
http://purl.obolibrary.org/obo/SCTID_91952008
'Machado-Joseph disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_91952008
http://purl.obolibrary.org/obo/MESH_C567642
http://purl.obolibrary.org/obo/MESH_C567642 EquivalentTo 'congenital generalized lipodystrophy type 4'
http://purl.obolibrary.org/obo/SCTID_22558005
'hypothyroidism due to iodide transport defect' EquivalentTo http://purl.obolibrary.org/obo/SCTID_22558005
http://purl.obolibrary.org/obo/MESH_C567666
http://purl.obolibrary.org/obo/MESH_C567666 EquivalentTo 'CFEOM3C'
http://www.orpha.net/ORDO/Orphanet_293928
'cognitive impairment with or without cerebellar ataxia' EquivalentTo http://www.orpha.net/ORDO/Orphanet_293928
http://purl.obolibrary.org/obo/MESH_C567606
http://purl.obolibrary.org/obo/MESH_C567606 EquivalentTo 'MYP18'
http://purl.obolibrary.org/obo/MESH_C567624
http://purl.obolibrary.org/obo/MESH_C567624 EquivalentTo 'mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria'
http://purl.obolibrary.org/obo/SCTID_70572005
'disseminated candidiasis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_70572005
http://purl.obolibrary.org/obo/SCTID_46459009
'pemphigus and fogo selvagem' EquivalentTo http://purl.obolibrary.org/obo/SCTID_46459009
http://www.orpha.net/ORDO/Orphanet_430
'hypodermyiasis' EquivalentTo http://www.orpha.net/ORDO/Orphanet_430
http://purl.obolibrary.org/obo/SCTID_126770008
'lip neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_126770008
http://purl.obolibrary.org/obo/SCTID_403468003
'squamous cell carcinoma of penis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_403468003
http://purl.obolibrary.org/obo/NCIT_C89715
'migraine disorder' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C89715
http://www.orpha.net/ORDO/Orphanet_252
'spondyloepimetaphyseal dysplasia' EquivalentTo http://www.orpha.net/ORDO/Orphanet_252
http://purl.obolibrary.org/obo/MESH_C567726
http://purl.obolibrary.org/obo/MESH_C567726 EquivalentTo 'PARK16'
http://purl.obolibrary.org/obo/MESH_C567749
http://purl.obolibrary.org/obo/MESH_C567749 EquivalentTo 'BRV2'
http://purl.obolibrary.org/obo/SCTID_715217004
'arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_715217004
http://purl.obolibrary.org/obo/SCTID_440214006
'amniotic band syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_440214006
http://purl.obolibrary.org/obo/SCTID_13048006
'orbit lymphoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_13048006
http://purl.obolibrary.org/obo/MESH_C567447
http://purl.obolibrary.org/obo/MESH_C567447 EquivalentTo 'HPC15'
http://purl.obolibrary.org/obo/MESH_C567449
http://purl.obolibrary.org/obo/MESH_C567449 EquivalentTo 'HPC11'
http://purl.obolibrary.org/obo/MESH_C567448
http://purl.obolibrary.org/obo/MESH_C567448 EquivalentTo 'HPC14'
http://purl.obolibrary.org/obo/MESH_C567452
http://purl.obolibrary.org/obo/MESH_C567452 EquivalentTo 'LMPH1B'
http://purl.obolibrary.org/obo/MESH_C567463
http://purl.obolibrary.org/obo/MESH_C567463 EquivalentTo 'Alzheimer disease 16'
http://purl.obolibrary.org/obo/MESH_C567477
http://purl.obolibrary.org/obo/MESH_C567477 EquivalentTo 'HPCX2'
http://purl.obolibrary.org/obo/MESH_C567470
http://purl.obolibrary.org/obo/MESH_C567470 EquivalentTo 'MRX95'
http://purl.obolibrary.org/obo/MESH_C567472
http://purl.obolibrary.org/obo/MESH_C567472 EquivalentTo 'IHPS4'
http://purl.obolibrary.org/obo/MESH_C567473
http://purl.obolibrary.org/obo/MESH_C567473 EquivalentTo 'AGA2'
http://purl.obolibrary.org/obo/MESH_C567405
http://purl.obolibrary.org/obo/MESH_C567405 EquivalentTo 'ANIB8'
http://purl.obolibrary.org/obo/MESH_C567406
http://purl.obolibrary.org/obo/MESH_C567406 EquivalentTo 'ANIB7'
http://purl.obolibrary.org/obo/SCTID_707273001
'dyskeratosis congenita, autosomal dominant 1' EquivalentTo http://purl.obolibrary.org/obo/SCTID_707273001
http://purl.obolibrary.org/obo/SCTID_92068002
'benign conjunctival neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_92068002
http://purl.obolibrary.org/obo/MESH_C567421
http://purl.obolibrary.org/obo/MESH_C567421 EquivalentTo 'OTSC8'
http://purl.obolibrary.org/obo/MESH_C567434
http://purl.obolibrary.org/obo/MESH_C567434 EquivalentTo 'juvenile cataract-microcornea-renal glucosuria syndrome'
http://purl.obolibrary.org/obo/MESH_C567435
http://purl.obolibrary.org/obo/MESH_C567435 EquivalentTo 'IHPS3'
http://purl.obolibrary.org/obo/MESH_D018331
http://purl.obolibrary.org/obo/MESH_D018331 EquivalentTo 'pigmented spindle cell nevus'
http://purl.obolibrary.org/obo/MESH_D018357
http://purl.obolibrary.org/obo/MESH_D018357 EquivalentTo 'respiratory syncytial virus infectious disease'
http://purl.obolibrary.org/obo/MESH_D018352
http://purl.obolibrary.org/obo/MESH_D018352 EquivalentTo 'coronavinae infectious disease'
http://purl.obolibrary.org/obo/MESH_D018354
http://purl.obolibrary.org/obo/MESH_D018354 EquivalentTo 'Alphavirus infectious disease'
http://purl.obolibrary.org/obo/MESH_D018347
http://purl.obolibrary.org/obo/MESH_D018347 EquivalentTo 'Hepadnaviridae infectious disease'
http://purl.obolibrary.org/obo/SCTID_25289003
'hyperacusis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_25289003
http://purl.obolibrary.org/obo/SCTID_239889005
'bullous systemic lupus erythematosus' EquivalentTo http://purl.obolibrary.org/obo/SCTID_239889005
http://purl.obolibrary.org/obo/SCTID_717705004
'Mayer-Rokitansky-KCster-Hauser syndrome type 2' EquivalentTo http://purl.obolibrary.org/obo/SCTID_717705004
http://www.orpha.net/ORDO/Orphanet_93962
'cervical dystonia' EquivalentTo http://www.orpha.net/ORDO/Orphanet_93962
http://www.orpha.net/ORDO/Orphanet_93968
'meningocele (disease)' EquivalentTo http://www.orpha.net/ORDO/Orphanet_93968
http://purl.obolibrary.org/obo/SCTID_111568001
'hypothalamic dysfunction' EquivalentTo http://purl.obolibrary.org/obo/SCTID_111568001
http://purl.obolibrary.org/obo/SCTID_359640008
'acute myeloblastic leukemia without maturation' EquivalentTo http://purl.obolibrary.org/obo/SCTID_359640008
http://purl.obolibrary.org/obo/SCTID_72050006
'acquired agranulocytosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_72050006
http://purl.obolibrary.org/obo/MESH_D018290
http://purl.obolibrary.org/obo/MESH_D018290 EquivalentTo 'uterine cervix carcinoma in situ'
http://purl.obolibrary.org/obo/MESH_D018292
http://purl.obolibrary.org/obo/MESH_D018292 EquivalentTo 'papillary cystadenoma'
http://purl.obolibrary.org/obo/MESH_D018285
http://purl.obolibrary.org/obo/MESH_D018285 EquivalentTo 'hilar cholangiocarcinoma'
http://purl.obolibrary.org/obo/MESH_C567594
http://purl.obolibrary.org/obo/MESH_C567594 EquivalentTo 'CFTDX'
http://www.orpha.net/ORDO/Orphanet_463
'adrenal cortex adenoma' EquivalentTo http://www.orpha.net/ORDO/Orphanet_463
http://purl.obolibrary.org/obo/MESH_C567531
http://purl.obolibrary.org/obo/MESH_C567531 EquivalentTo 'MAFD9'
http://purl.obolibrary.org/obo/MESH_C567530
http://purl.obolibrary.org/obo/MESH_C567530 EquivalentTo 'MAFD8'
http://purl.obolibrary.org/obo/MESH_D018245
http://purl.obolibrary.org/obo/MESH_D018245 EquivalentTo 'placental site trophoblastic tumor'
http://purl.obolibrary.org/obo/MESH_C567548
http://purl.obolibrary.org/obo/MESH_C567548 EquivalentTo 'OFC12'
http://purl.obolibrary.org/obo/MESH_D043202
http://purl.obolibrary.org/obo/MESH_D043202 EquivalentTo 'steroid inherited metabolic disorder'
http://linkedlifedata.com/resource/umls/id/C1275122
http://linkedlifedata.com/resource/umls/id/C1275122 EquivalentTo 'familial multiple trichoepithelioma'
http://purl.obolibrary.org/obo/MESH_D018209
http://purl.obolibrary.org/obo/MESH_D018209 EquivalentTo 'adrenal gland myelolipoma'
http://purl.obolibrary.org/obo/MESH_D008882
http://purl.obolibrary.org/obo/MESH_D008882 EquivalentTo 'IgG4-related dacryoadenitis and sialadenitis'
http://purl.obolibrary.org/obo/MESH_C567500
http://purl.obolibrary.org/obo/MESH_C567500 EquivalentTo 'ANIB6'
http://purl.obolibrary.org/obo/MESH_C567502
http://purl.obolibrary.org/obo/MESH_C567502 EquivalentTo 'lethal arthrogryposis-anterior horn cell disease syndrome'
http://purl.obolibrary.org/obo/MESH_D018224
http://purl.obolibrary.org/obo/MESH_D018224 EquivalentTo 'myofibromatosis'
http://purl.obolibrary.org/obo/SCTID_95797003
'necrotizing scleritis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_95797003
http://www.orpha.net/ORDO/Orphanet_494451
'vulva basal cell carcinoma' EquivalentTo http://www.orpha.net/ORDO/Orphanet_494451
http://www.orpha.net/ORDO/Orphanet_494454
'vulvar adenocarcinoma' EquivalentTo http://www.orpha.net/ORDO/Orphanet_494454
http://www.orpha.net/ORDO/Orphanet_494448
'vulvar squamous cell carcinoma' EquivalentTo http://www.orpha.net/ORDO/Orphanet_494448
http://www.ebi.ac.uk/efo/EFO_1001952
'endometrial adenosquamous carcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001952
http://www.ebi.ac.uk/efo/EFO_1001950
'colon carcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001950
http://www.ebi.ac.uk/efo/EFO_1001956
'gallbladder carcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001956
http://www.ebi.ac.uk/efo/EFO_1001963
'ovarian mucinous cystadenocarcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001963
http://www.ebi.ac.uk/efo/EFO_1001962
'ovarian cystadenocarcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001962
http://www.ebi.ac.uk/efo/EFO_1001961
'intrahepatic cholangiocarcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001961
http://www.ebi.ac.uk/efo/EFO_1001969
'acantholytic variant squamous cell breast carcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001969
http://www.ebi.ac.uk/efo/EFO_1001968
'soft tissue sarcoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001968
http://www.ebi.ac.uk/efo/EFO_1001964
'pancreatic somatostatinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001964
http://www.ebi.ac.uk/efo/EFO_1001973
'ureter transitional cell carcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001973
http://www.ebi.ac.uk/efo/EFO_1001972
'undifferentiated pleomorphic sarcoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001972
http://www.ebi.ac.uk/efo/EFO_1001971
'thyroid sarcoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001971
http://www.ebi.ac.uk/efo/EFO_1001970
'squamous papilloma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001970
http://www.ebi.ac.uk/efo/EFO_1001979
'adrenocorticotropic hormone deficiency (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001979
http://www.ebi.ac.uk/efo/EFO_1001978
'3MC syndrome 1' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001978
http://www.ebi.ac.uk/efo/EFO_1001977
'3MC syndrome 2' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001977
http://www.ebi.ac.uk/efo/EFO_1001975
'vulvar leiomyosarcoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001975
http://www.ebi.ac.uk/efo/EFO_1001983
'Charcot-Marie-tooth disease axonal type 2X' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001983
http://www.ebi.ac.uk/efo/EFO_1001982
'antisynthetase syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001982
http://www.ebi.ac.uk/efo/EFO_1001981
'neurological conditions associated with aminoacylase 1 deficiency' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001981
http://www.ebi.ac.uk/efo/EFO_1001980
'alpha-methylacyl-CoA racemase deficiency' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001980
http://purl.obolibrary.org/obo/SCTID_128091003
'autoimmune thrombocytopenia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_128091003
http://www.ebi.ac.uk/efo/EFO_1001989
'monomelic amyotrophy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001989
http://www.ebi.ac.uk/efo/EFO_1001988
'juvenile polymyositis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001988
http://www.ebi.ac.uk/efo/EFO_1001996
'thalassemia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001996
http://www.ebi.ac.uk/efo/EFO_1001992
'scapuloperoneal spinal muscular atrophy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001992
http://www.ebi.ac.uk/efo/EFO_1001990
'ocular motility disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001990
http://www.ebi.ac.uk/efo/EFO_1001999
'systemic-onset juvenile idiopathic arthritis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001999
http://www.ebi.ac.uk/efo/EFO_1001997
'triple-A syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001997
http://purl.obolibrary.org/obo/NCIT_C41236
'osteosclerosis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C41236
http://purl.obolibrary.org/obo/MONDO_0029001
chemically-induced disorders
'chemically-induced disorders' EquivalentTo 'disease or disorder' and ('realized in response to' some http://purl.obolibrary.org/obo/ECTO_0000231)
http://purl.obolibrary.org/obo/MESH_D064419 EquivalentTo 'chemically-induced disorders'
'chemically-induced disorders' SubClassOf 'realized in response to' some http://purl.obolibrary.org/obo/ECTO_0000231
'chemically-induced disorders' SubClassOf 'disease or disorder'
http://purl.obolibrary.org/obo/MONDO_0029000
poisoning
'poisoning' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0008546
http://purl.obolibrary.org/obo/MESH_D011041 EquivalentTo 'poisoning'
'poisoning' EquivalentTo http://purl.obolibrary.org/obo/SCTID_75478009
'poisoning' SubClassOf 'chemically-induced disorders'
http://www.orpha.net/ORDO/Orphanet_93275
'thanatophoric dysplasia, Glasgow variant' EquivalentTo http://www.orpha.net/ORDO/Orphanet_93275
http://purl.obolibrary.org/obo/SCTID_74025007
'intermittent squint' EquivalentTo http://purl.obolibrary.org/obo/SCTID_74025007
http://purl.obolibrary.org/obo/MESH_D008309
http://purl.obolibrary.org/obo/MESH_D008309 EquivalentTo 'Mallory-Weiss syndrome'
http://purl.obolibrary.org/obo/SCTID_231827008
'palpebral nevus' EquivalentTo http://purl.obolibrary.org/obo/SCTID_231827008
http://www.ebi.ac.uk/efo/EFO_0001226
'ring chromosome 18' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0001226
http://www.ebi.ac.uk/efo/EFO_1001904
'stomatitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001904
http://www.ebi.ac.uk/efo/EFO_1001903
'nosophobia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001903
http://www.ebi.ac.uk/efo/EFO_1001902
'neuromuscular disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001902
http://www.ebi.ac.uk/efo/EFO_1001901
'neuroendocrine neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001901
http://www.ebi.ac.uk/efo/EFO_1001900
'early myoclonic encephalopathy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001900
http://www.ebi.ac.uk/efo/EFO_1001909
'plantar fasciitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001909
http://www.ebi.ac.uk/efo/EFO_1001908
'phobic disorder' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001908
http://www.ebi.ac.uk/efo/EFO_1001907
'hyalitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001907
http://www.ebi.ac.uk/efo/EFO_1001906
'panic disorder without agoraphobia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001906
http://www.ebi.ac.uk/efo/EFO_1001916
'separation anxiety disorder' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001916
http://www.ebi.ac.uk/efo/EFO_1001913
'purpura fulminans' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001913
http://www.ebi.ac.uk/efo/EFO_1001918
'specific phobia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001918
http://www.ebi.ac.uk/efo/EFO_1001917
'social phobia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001917
http://www.ebi.ac.uk/efo/EFO_1001927
'skin squamous cell carcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001927
http://www.ebi.ac.uk/efo/EFO_1001926
'pathological gambling' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001926
http://www.ebi.ac.uk/efo/EFO_1001929
'selective IgA deficiency disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001929
http://www.ebi.ac.uk/efo/EFO_1001928
'small intestine neuroendocrine tumor, well differentiated, low or intermediate grade' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001928
http://www.ebi.ac.uk/efo/EFO_1001937
'amelanotic melanoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001937
http://www.ebi.ac.uk/efo/EFO_1001936
'T-cell adult acute lymphocytic leukemia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001936
http://www.ebi.ac.uk/efo/EFO_1001935
'B-cell adult acute lymphocytic leukemia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001935
http://www.ebi.ac.uk/efo/EFO_1001931
'oropharynx cancer' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001931
http://www.ebi.ac.uk/efo/EFO_1001939
'Barrett adenocarcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001939
http://www.ebi.ac.uk/efo/EFO_1001949
'colon adenocarcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001949
http://www.ebi.ac.uk/efo/EFO_1001948
'T-cell childhood lymphoblastic lymphoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001948
http://www.ebi.ac.uk/efo/EFO_1001947
'T-cell childhood acute lymphocytic leukemia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001947
http://www.ebi.ac.uk/efo/EFO_1001946
'B-cell childhood acute lymphoblastic leukemia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001946
http://www.ebi.ac.uk/efo/EFO_1001942
'bronchogenic carcinoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001942
http://purl.obolibrary.org/obo/ICD10_Q23
http://purl.obolibrary.org/obo/ICD10_Q23 EquivalentTo 'congenital mitral valve insufficiency and/or stenosis'
http://www.orpha.net/ORDO/Orphanet_494433
'mirage syndrome; mirage' EquivalentTo http://www.orpha.net/ORDO/Orphanet_494433
http://www.orpha.net/ORDO/Orphanet_494421
'sacrococcygeal teratoma' EquivalentTo http://www.orpha.net/ORDO/Orphanet_494421
http://www.orpha.net/ORDO/Orphanet_494418
'vulvar carcinoma' EquivalentTo http://www.orpha.net/ORDO/Orphanet_494418
http://purl.obolibrary.org/obo/SCTID_399029005
'dermatophytosis of groin and perianal area' EquivalentTo http://purl.obolibrary.org/obo/SCTID_399029005
http://purl.obolibrary.org/obo/SCTID_38539003
'onchocerciasis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_38539003
http://purl.obolibrary.org/obo/SCTID_66345008
'adactyly of foot' EquivalentTo http://purl.obolibrary.org/obo/SCTID_66345008
http://purl.obolibrary.org/obo/SCTID_702349003
'nemaline myopathy 3' EquivalentTo http://purl.obolibrary.org/obo/SCTID_702349003
http://purl.obolibrary.org/obo/SCTID_423425006
'malignant tumor of palpebral epidermis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_423425006
http://purl.obolibrary.org/obo/NCIT_C41377
'3p- syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C41377
http://purl.obolibrary.org/obo/SCTID_718210003
'Brunner syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_718210003
http://purl.obolibrary.org/obo/MESH_D057178
http://purl.obolibrary.org/obo/MESH_D057178 EquivalentTo 'progressive non-fluent aphasia'
http://purl.obolibrary.org/obo/SCTID_229752008
'auditory perceptual disorders' EquivalentTo http://purl.obolibrary.org/obo/SCTID_229752008
http://purl.obolibrary.org/obo/SCTID_92260003
'ovarian benign neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_92260003
http://www.orpha.net/ORDO/Orphanet_730
'autosomal dominant polycystic kidney disease' EquivalentTo http://www.orpha.net/ORDO/Orphanet_730
http://www.ebi.ac.uk/efo/EFO_1001798
'alpha-heavy chain disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001798
http://www.ebi.ac.uk/efo/EFO_1001797
'sickle cell anemia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001797
http://www.ebi.ac.uk/efo/EFO_1001795
'fusariosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001795
http://www.ebi.ac.uk/efo/EFO_1001793
'femoral neck fracture' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001793
http://www.ebi.ac.uk/efo/EFO_1001754
'placental abruption (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001754
http://www.ebi.ac.uk/efo/EFO_1001759
'alcohol amnestic disorder' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001759
http://www.ebi.ac.uk/efo/EFO_1001757
'endometriosis of uterus' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001757
http://www.ebi.ac.uk/efo/EFO_1001765
'mastitis, bovine' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001765
http://purl.obolibrary.org/obo/MESH_C567851
http://purl.obolibrary.org/obo/MESH_C567851 EquivalentTo 'idiopathic ventricular fibrillation, non Brugada type'
http://purl.obolibrary.org/obo/MESH_C567856
http://purl.obolibrary.org/obo/MESH_C567856 EquivalentTo 'lethal polymalformative syndrome, Boissel type'
http://www.ebi.ac.uk/efo/EFO_1001768
'burn' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001768
http://www.ebi.ac.uk/efo/EFO_1001767
'childhood brain stem neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001767
http://www.ebi.ac.uk/efo/EFO_1001776
'lathyrism' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001776
http://www.ebi.ac.uk/efo/EFO_1001775
'carcinoid heart disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001775
http://www.ebi.ac.uk/efo/EFO_1001772
'nocturnal paroxysmal dystonia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001772
http://purl.obolibrary.org/obo/MESH_C567803
http://purl.obolibrary.org/obo/MESH_C567803 EquivalentTo 'pituitary hormone deficiency, combined, 1'
http://purl.obolibrary.org/obo/MESH_C567802
http://purl.obolibrary.org/obo/MESH_C567802 EquivalentTo 'ATFB8'
http://purl.obolibrary.org/obo/MESH_C567816
http://purl.obolibrary.org/obo/MESH_C567816 EquivalentTo 'primary biliary cholangitis 3'
http://purl.obolibrary.org/obo/MESH_C567815
http://purl.obolibrary.org/obo/MESH_C567815 EquivalentTo 'lymphoproliferative syndrome 1'
http://purl.obolibrary.org/obo/MESH_C567817
http://purl.obolibrary.org/obo/MESH_C567817 EquivalentTo 'primary biliary cholangitis 2'
http://purl.obolibrary.org/obo/SCTID_49084001
'radiodermatitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_49084001
http://purl.obolibrary.org/obo/MESH_C567833
http://purl.obolibrary.org/obo/MESH_C567833 EquivalentTo 'autosomal recessive optic atrophy, OPA7 type'
http://purl.obolibrary.org/obo/SCTID_34041001
'Achard-Thiers syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_34041001
http://purl.obolibrary.org/obo/SCTID_230744007
'cerebrospinal fluid leak' EquivalentTo http://purl.obolibrary.org/obo/SCTID_230744007
http://purl.obolibrary.org/obo/SCTID_43248007
'pentasomy X' EquivalentTo http://purl.obolibrary.org/obo/SCTID_43248007
http://purl.obolibrary.org/obo/SCTID_703614006
'calcified aponeurotic fibroma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_703614006
http://www.ebi.ac.uk/efo/EFO_1001838
'renal nutcracker syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001838
http://purl.obolibrary.org/obo/SCTID_86348002
'mycotic endocarditis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_86348002
http://www.ebi.ac.uk/efo/EFO_1001832
'ankle injury' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001832
http://www.ebi.ac.uk/efo/EFO_1001842
'serotonin syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001842
http://www.ebi.ac.uk/efo/EFO_1001840
'radiodermatitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001840
http://www.ebi.ac.uk/efo/EFO_1001845
'serum sickness' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001845
http://www.ebi.ac.uk/efo/EFO_1001853
'submandibular gland neoplasm' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001853
http://purl.obolibrary.org/obo/MESH_D008477
http://purl.obolibrary.org/obo/MESH_D008477 EquivalentTo 'mediastinal diseases'
http://www.ebi.ac.uk/efo/EFO_1001858
'perineural cyst' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001858
http://www.ebi.ac.uk/efo/EFO_1001857
'Takayasu arteritis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001857
http://purl.obolibrary.org/obo/SCTID_402965002
'vibrio vulnificus infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_402965002
http://www.ebi.ac.uk/efo/EFO_1001856
'Susac syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001856
http://www.ebi.ac.uk/efo/EFO_1001855
'silicosiderosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001855
http://www.ebi.ac.uk/efo/EFO_1001860
'mirizzi syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001860
http://www.ebi.ac.uk/efo/EFO_1001869
'dysentery' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001869
http://www.ebi.ac.uk/efo/EFO_1001868
'congenital contractures of the limbs and face, hypotonia, and developmental delay' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001868
http://www.ebi.ac.uk/efo/EFO_1001875
'amyloidosis (disease)' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001875
http://www.ebi.ac.uk/efo/EFO_1001873
'AIDS phobia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001873
http://www.ebi.ac.uk/efo/EFO_1001872
'agoraphobia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001872
http://www.ebi.ac.uk/efo/EFO_1001879
'cancerophobia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001879
http://www.ebi.ac.uk/efo/EFO_1001876
'animal phobia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001876
http://purl.obolibrary.org/obo/NCIT_C113159
'pneumonitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C113159
http://www.ebi.ac.uk/efo/EFO_1001881
'cold urticaria' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001881
http://www.ebi.ac.uk/efo/EFO_1001889
'flying phobia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001889
http://www.ebi.ac.uk/efo/EFO_1001897
'Morvan syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001897
http://www.ebi.ac.uk/efo/EFO_1001893
'alternariosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001893
http://www.ebi.ac.uk/efo/EFO_1001892
'generalized anxiety disorder' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001892
http://www.ebi.ac.uk/efo/EFO_1001890
'food allergy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001890
http://www.ebi.ac.uk/efo/EFO_1001899
'muscular channelopathy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001899
http://purl.obolibrary.org/obo/NCIT_C113171
'transient congenital hypothyroidism' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C113171
http://purl.obolibrary.org/obo/NCIT_C113169
'rare insulin-resistance syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C113169
http://purl.obolibrary.org/obo/MESH_C567935
http://purl.obolibrary.org/obo/MESH_C567935 EquivalentTo 'congenital nongoitrous hypothryoidism 3'
http://www.ebi.ac.uk/efo/EFO_1001806
'macrophage activation syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001806
http://www.ebi.ac.uk/efo/EFO_1001805
'lobomycosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001805
http://www.ebi.ac.uk/efo/EFO_1001804
'posterior leukoencephalopathy syndrome' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001804
http://www.ebi.ac.uk/efo/EFO_1001803
'hearing loss, mixed conductive-sensorineural' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001803
http://www.ebi.ac.uk/efo/EFO_1001809
'Marchiafava-Bignami disease' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001809
http://www.ebi.ac.uk/efo/EFO_1001808
'manganese poisoning' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001808
http://www.ebi.ac.uk/efo/EFO_1001807
'malakoplakia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001807
http://www.ebi.ac.uk/efo/EFO_1001814
'nephrogenic systemic fibrosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001814
http://www.ebi.ac.uk/efo/EFO_1001810
'mercury poisoning' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001810
http://www.ebi.ac.uk/efo/EFO_1001818
'oral submucous fibrosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001818
http://www.ebi.ac.uk/efo/EFO_1001827
'zoster sine herpete' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001827
http://www.ebi.ac.uk/efo/EFO_1001825
'pleurisy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001825
http://www.ebi.ac.uk/efo/EFO_1001824
'pinguecula' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001824
http://www.ebi.ac.uk/efo/EFO_1001822
'paroxysmal hemicrania' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001822
http://www.ebi.ac.uk/efo/EFO_1001821
'lytic metastatic bone lesion' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001821
http://purl.obolibrary.org/obo/GO_0003867
http://www.orpha.net/ORDO/Orphanet_918
'ABCD syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_918
http://purl.obolibrary.org/obo/SCTID_711499009
'collagenous gastritis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_711499009
http://purl.obolibrary.org/obo/SCTID_275322007
'severe cutaneous adverse reaction' EquivalentTo http://purl.obolibrary.org/obo/SCTID_275322007
http://purl.obolibrary.org/obo/SCTID_717333002
'congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies' EquivalentTo http://purl.obolibrary.org/obo/SCTID_717333002
http://www.orpha.net/ORDO/Orphanet_936
'succinic acidemia' EquivalentTo http://www.orpha.net/ORDO/Orphanet_936
http://purl.obolibrary.org/obo/SCTID_722113001
'osteoporosis-oculocutaneous hypopigmentation syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_722113001
http://purl.obolibrary.org/obo/SCTID_57920007
'herpes simplex virus gingivostomatitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_57920007
http://purl.obolibrary.org/obo/NCIT_C123055
'immunoglobulin-mediated membranoproliferative glomerulonephritis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C123055
http://purl.obolibrary.org/obo/NCIT_C123060
'idiopathic membranous glomerulonephritis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C123060
http://purl.obolibrary.org/obo/MESH_D023521
http://purl.obolibrary.org/obo/MESH_D023521 EquivalentTo 'Chlamydophila infectious disease'
http://purl.obolibrary.org/obo/MONDO_0040699
necrotizing scleritis
'necrotizing scleritis' SubClassOf 'scleritis (disease)'
'necrotizing scleritis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/PATO_0000647
'necrotizing scleritis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_95797003
'necrotizing scleritis' EquivalentTo 'scleritis (disease)' and ('has modifier' some http://purl.obolibrary.org/obo/PATO_0000647)
http://purl.obolibrary.org/obo/MONDO_0040698
subacute bursitis
'subacute bursitis' SubClassOf 'bursitis'
'subacute bursitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_109298000
http://www.orpha.net/ORDO/Orphanet_137577
'asphyxia neonatorum' EquivalentTo http://www.orpha.net/ORDO/Orphanet_137577
http://purl.obolibrary.org/obo/GARD_0008309
http://purl.obolibrary.org/obo/GARD_0008309 EquivalentTo 'absent tibia-polydactyly syndrome'
http://purl.obolibrary.org/obo/GARD_0008312
http://purl.obolibrary.org/obo/GARD_0008312 EquivalentTo 'pseudo-von Willebrand disease'
http://purl.obolibrary.org/obo/GARD_0008310
http://purl.obolibrary.org/obo/GARD_0008310 EquivalentTo 'myotonic dystrophy type 1'
http://purl.obolibrary.org/obo/SCTID_239806000
'juvenile spondyloarthropathy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_239806000
http://purl.obolibrary.org/obo/GARD_0008360
http://purl.obolibrary.org/obo/GARD_0008360 EquivalentTo 'X-linked intellectual disability-retinitis pigmentosa syndrome'
http://purl.obolibrary.org/obo/GARD_0008378
http://purl.obolibrary.org/obo/GARD_0008378 EquivalentTo 'autosomal recessive polycystic kidney disease'
http://purl.obolibrary.org/obo/GARD_0008372
http://purl.obolibrary.org/obo/GARD_0008372 EquivalentTo 'silicosiderosis'
http://purl.obolibrary.org/obo/GARD_0008370
http://purl.obolibrary.org/obo/GARD_0008370 EquivalentTo 'congenital lactic acidosis, Saguenay-Lac-saint-Jean type'
http://purl.obolibrary.org/obo/GARD_0008387
http://purl.obolibrary.org/obo/GARD_0008387 EquivalentTo '3-hydroxy-3-methylglutaric aciduria'
http://purl.obolibrary.org/obo/GARD_0008380
http://purl.obolibrary.org/obo/GARD_0008380 EquivalentTo 'arterial calcification of infancy'
http://purl.obolibrary.org/obo/GARD_0008397
http://purl.obolibrary.org/obo/GARD_0008397 EquivalentTo 'brain demyelination due to methionine adenosyltransferase deficiency'
http://purl.obolibrary.org/obo/GARD_0008394
http://purl.obolibrary.org/obo/GARD_0008394 EquivalentTo 'hypolipoproteinemia (disease)'
http://purl.obolibrary.org/obo/GARD_0008391
http://purl.obolibrary.org/obo/GARD_0008391 EquivalentTo 'ornithine carbamoyltransferase deficiency'
http://purl.obolibrary.org/obo/MONDO_0040700
orbital dermoid cyst
'orbital dermoid cyst' SubClassOf 'facial dermoid cyst'
'orbital dermoid cyst' SubClassOf 'disease of orbital region'
'orbital dermoid cyst' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C4548
'orbital dermoid cyst' EquivalentTo http://purl.obolibrary.org/obo/SCTID_255002002
'orbital dermoid cyst' EquivalentTo 'dermoid cyst' and ('disease HAS location' some http://purl.obolibrary.org/obo/UBERON_0004088)
http://www.ebi.ac.uk/efo/EFO_0006545
'brain glioblastoma' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0006545
http://purl.obolibrary.org/obo/GARD_0008329
http://purl.obolibrary.org/obo/GARD_0008329 EquivalentTo 'atelosteogenesis type II'
http://purl.obolibrary.org/obo/GARD_0008338
http://purl.obolibrary.org/obo/GARD_0008338 EquivalentTo 'PHACE syndrome'
http://purl.obolibrary.org/obo/GARD_0008337
http://purl.obolibrary.org/obo/GARD_0008337 EquivalentTo 'IgG4-related mediastinitis'
http://purl.obolibrary.org/obo/GARD_0008334
http://purl.obolibrary.org/obo/GARD_0008334 EquivalentTo 'nemaline myopathy 5'
http://purl.obolibrary.org/obo/GARD_0008333
http://purl.obolibrary.org/obo/GARD_0008333 EquivalentTo 'Athabaskan brainstem dysgenesis syndrome'
http://purl.obolibrary.org/obo/GARD_0008331
http://purl.obolibrary.org/obo/GARD_0008331 EquivalentTo 'deafness dystonia syndrome'
http://www.ebi.ac.uk/efo/EFO_0006572
'juvenile myoclonic epilepsy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0006572
http://purl.obolibrary.org/obo/GARD_0008349
http://purl.obolibrary.org/obo/GARD_0008349 EquivalentTo 'hypomaturation amelogenesis imperfecta'
http://purl.obolibrary.org/obo/NCIT_C113615
'levator syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C113615
http://purl.obolibrary.org/obo/GARD_0008348
http://purl.obolibrary.org/obo/GARD_0008348 EquivalentTo 'pulmonary edema of mountaineers, susceptibility to'
http://purl.obolibrary.org/obo/GARD_0008343
http://purl.obolibrary.org/obo/GARD_0008343 EquivalentTo 'spondylometaphyseal dysplasia, golden type'
http://purl.obolibrary.org/obo/GARD_0008341
http://purl.obolibrary.org/obo/GARD_0008341 EquivalentTo 'Marinesco-Sjogren syndrome'
http://purl.obolibrary.org/obo/GARD_0008356
http://purl.obolibrary.org/obo/GARD_0008356 EquivalentTo 'pneumoconiosis'
http://purl.obolibrary.org/obo/SCTID_79586000
'tubal pregnancy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_79586000
http://purl.obolibrary.org/obo/NCIT_C123166
'polycystic kidney disease 2' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C123166
http://purl.obolibrary.org/obo/SCTID_400054000
'rheumatoid vasculitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_400054000
http://purl.obolibrary.org/obo/MESH_C537091
http://purl.obolibrary.org/obo/MESH_C537091 EquivalentTo 'brachydactyly type A5'
http://purl.obolibrary.org/obo/SCTID_408647009
'gastric adenocarcinoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_408647009
http://purl.obolibrary.org/obo/MESH_C537013
http://purl.obolibrary.org/obo/MESH_C537013 EquivalentTo 'oculocerebrofacial syndrome, Kaufman type'
http://purl.obolibrary.org/obo/SCTID_93235007
'X-linked adrenal hypoplasia congenita' EquivalentTo http://purl.obolibrary.org/obo/SCTID_93235007
http://purl.obolibrary.org/obo/SCTID_441658007
'staphylococcus aureus pneumonia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_441658007
http://purl.obolibrary.org/obo/GARD_0008249
http://purl.obolibrary.org/obo/GARD_0008249 EquivalentTo 'pyridoxine-refractory autosomal recessive sideroblastic anemia'
http://purl.obolibrary.org/obo/SCTID_254290004
'post-transplant lymphoproliferative disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254290004
http://purl.obolibrary.org/obo/GARD_0008241
http://purl.obolibrary.org/obo/GARD_0008241 EquivalentTo 'sea-blue histiocyte syndrome'
http://purl.obolibrary.org/obo/GARD_0008258
http://purl.obolibrary.org/obo/GARD_0008258 EquivalentTo 'mediastinal yolk sac tumor'
http://purl.obolibrary.org/obo/GARD_0008278
http://purl.obolibrary.org/obo/GARD_0008278 EquivalentTo 'cataract 40'
http://purl.obolibrary.org/obo/GARD_0008206
http://purl.obolibrary.org/obo/GARD_0008206 EquivalentTo 'Ambras type hypertrichosis universalis congenita'
http://purl.obolibrary.org/obo/GARD_0008204
http://purl.obolibrary.org/obo/GARD_0008204 EquivalentTo 'immunoglobulin a vasculitis'
http://purl.obolibrary.org/obo/GARD_0008203
http://purl.obolibrary.org/obo/GARD_0008203 EquivalentTo 'Rhabditida infectious disease'
http://purl.obolibrary.org/obo/GARD_0008208
http://purl.obolibrary.org/obo/GARD_0008208 EquivalentTo 'tropical spastic paraparesis'
http://purl.obolibrary.org/obo/SCTID_11999007
'inactive tuberculosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_11999007
http://purl.obolibrary.org/obo/SCTID_253781004
'megacystis-microcolon-intestinal hypoperistalsis syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_253781004
http://purl.obolibrary.org/obo/GARD_0008224
http://purl.obolibrary.org/obo/GARD_0008224 EquivalentTo 'T-cell prolymphocytic leukemia'
http://purl.obolibrary.org/obo/GARD_0008238
http://purl.obolibrary.org/obo/GARD_0008238 EquivalentTo 'choroid plexus carcinoma'
http://purl.obolibrary.org/obo/GARD_0008233
http://purl.obolibrary.org/obo/GARD_0008233 EquivalentTo 'Gaucher disease'
http://purl.obolibrary.org/obo/GARD_0008232
http://purl.obolibrary.org/obo/GARD_0008232 EquivalentTo 'hemangioblastoma'
http://purl.obolibrary.org/obo/GARD_0008231
http://purl.obolibrary.org/obo/GARD_0008231 EquivalentTo 'non-Langerhans cell histiocytosis'
http://purl.obolibrary.org/obo/MESH_D008175
http://purl.obolibrary.org/obo/MESH_D008175 EquivalentTo 'lung neoplasm'
http://purl.obolibrary.org/obo/SCTID_86133004
'Cestode infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_86133004
http://purl.obolibrary.org/obo/SCTID_241774007
'ciguatera fish poisoning' EquivalentTo http://purl.obolibrary.org/obo/SCTID_241774007
http://purl.obolibrary.org/obo/SCTID_44743006
'gonococcal infection of joint' EquivalentTo http://purl.obolibrary.org/obo/SCTID_44743006
http://purl.obolibrary.org/obo/SCTID_703226008
'intracranial berry aneurysm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_703226008
http://purl.obolibrary.org/obo/SCTID_425887005
'bacterial meningitis caused by gram-negative bacteria' EquivalentTo http://purl.obolibrary.org/obo/SCTID_425887005
http://purl.obolibrary.org/obo/GARD_0008167
http://purl.obolibrary.org/obo/GARD_0008167 EquivalentTo 'palmoplantar keratosis'
http://purl.obolibrary.org/obo/GARD_0008178
http://purl.obolibrary.org/obo/GARD_0008178 EquivalentTo 'hypotrichosis 7'
http://purl.obolibrary.org/obo/GARD_0008174
http://purl.obolibrary.org/obo/GARD_0008174 EquivalentTo 'cryptomicrotia-brachydactyly-excess fingertip arch syndrome'
http://purl.obolibrary.org/obo/GARD_0008172
http://purl.obolibrary.org/obo/GARD_0008172 EquivalentTo 'transient global amnesia (disease)'
http://purl.obolibrary.org/obo/GARD_0008189
http://purl.obolibrary.org/obo/GARD_0008189 EquivalentTo 'conotruncal heart malformations'
http://purl.obolibrary.org/obo/GARD_0008182
http://purl.obolibrary.org/obo/GARD_0008182 EquivalentTo 'proximal symphalangism (disease)'
http://purl.obolibrary.org/obo/GARD_0008197
http://purl.obolibrary.org/obo/GARD_0008197 EquivalentTo 'Smith-Magenis syndrome'
http://purl.obolibrary.org/obo/GARD_0008192
http://purl.obolibrary.org/obo/GARD_0008192 EquivalentTo 'uveal disease'
http://purl.obolibrary.org/obo/MESH_D008108
http://purl.obolibrary.org/obo/MESH_D008108 EquivalentTo 'alcoholic liver diseases'
http://purl.obolibrary.org/obo/MESH_C566993
http://purl.obolibrary.org/obo/MESH_C566993 EquivalentTo 'spastic ataxia 1'
http://purl.obolibrary.org/obo/SCTID_254637007
'non-small cell lung carcinoma (disease)' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254637007
http://purl.obolibrary.org/obo/MESH_C566955
http://purl.obolibrary.org/obo/MESH_C566955 EquivalentTo 'cataract 33'
http://purl.obolibrary.org/obo/MESH_C566969
http://purl.obolibrary.org/obo/MESH_C566969 EquivalentTo 'spastic ataxia 2'
http://purl.obolibrary.org/obo/MESH_C566961
http://purl.obolibrary.org/obo/MESH_C566961 EquivalentTo 'lethal congenital contracture syndrome 3'
http://purl.obolibrary.org/obo/MESH_C566976
http://purl.obolibrary.org/obo/MESH_C566976 EquivalentTo 'GLC1H'
http://purl.obolibrary.org/obo/MESH_C566977
http://purl.obolibrary.org/obo/MESH_C566977 EquivalentTo 'GLC1N'
http://purl.obolibrary.org/obo/SCTID_41309000
'alcoholic liver diseases' EquivalentTo http://purl.obolibrary.org/obo/SCTID_41309000
http://purl.obolibrary.org/obo/UBERON_0007119
http://purl.obolibrary.org/obo/MESH_C566914
http://purl.obolibrary.org/obo/MESH_C566914 EquivalentTo 'OTSC4'
http://purl.obolibrary.org/obo/MESH_C566913
http://purl.obolibrary.org/obo/MESH_C566913 EquivalentTo 'OTSC7'
http://purl.obolibrary.org/obo/MESH_C566924
http://purl.obolibrary.org/obo/MESH_C566924 EquivalentTo 'familial cavitary optic disc anomaly'
http://purl.obolibrary.org/obo/MESH_C566932
http://purl.obolibrary.org/obo/MESH_C566932 EquivalentTo 'ATFB5'
http://purl.obolibrary.org/obo/MESH_C566949
http://purl.obolibrary.org/obo/MESH_C566949 EquivalentTo 'ETM3'
http://www.orpha.net/ORDO/Orphanet_137862
'Martinez-Frias syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_137862
http://purl.obolibrary.org/obo/MESH_C566903
http://purl.obolibrary.org/obo/MESH_C566903 EquivalentTo 'ETL3'
http://purl.obolibrary.org/obo/SCTID_5724005
'lathyrism' EquivalentTo http://purl.obolibrary.org/obo/SCTID_5724005
http://purl.obolibrary.org/obo/MESH_C566909
http://purl.obolibrary.org/obo/MESH_C566909 EquivalentTo 'cataract 12 multiple types'
http://purl.obolibrary.org/obo/MESH_C566908
http://purl.obolibrary.org/obo/MESH_C566908 EquivalentTo 'lissencephaly due to TUBA1A mutation'
http://purl.obolibrary.org/obo/GARD_0008156
http://purl.obolibrary.org/obo/GARD_0008156 EquivalentTo 'endometriosis of uterus'
http://www.ebi.ac.uk/efo/EFO_0006792
'Lewy body dementia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0006792
http://www.orpha.net/ORDO/Orphanet_402570
'type 1 diabetes mellitus 19' EquivalentTo http://www.orpha.net/ORDO/Orphanet_402570
http://purl.obolibrary.org/obo/NCIT_C79765
'Adams-Stokes syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C79765
http://purl.obolibrary.org/obo/SCTID_449783002
'zoster sine herpete' EquivalentTo http://purl.obolibrary.org/obo/SCTID_449783002
http://purl.obolibrary.org/obo/SCTID_25225006
'adenoviridae infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_25225006
http://purl.obolibrary.org/obo/NCIT_C79705
'prosthesis-related infectious disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C79705
http://purl.obolibrary.org/obo/NCIT_C79704
'precocious puberty' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C79704
http://purl.obolibrary.org/obo/NCIT_C79718
'serum sickness' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C79718
http://purl.obolibrary.org/obo/NCIT_C79717
'scleral disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C79717
http://purl.obolibrary.org/obo/SCTID_109298000
'subacute bursitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_109298000
http://purl.obolibrary.org/obo/SCTID_64228003
'respiratory paralysis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_64228003
http://purl.obolibrary.org/obo/SCTID_82661006
'abdominal ectopic pregnancy' EquivalentTo http://purl.obolibrary.org/obo/SCTID_82661006
http://purl.obolibrary.org/obo/SCTID_90448008
'ossification of the posterior longitudinal ligament of the spine' EquivalentTo http://purl.obolibrary.org/obo/SCTID_90448008
http://purl.obolibrary.org/obo/SCTID_38573008
'leishmaniasis, diffuse cutaneous' EquivalentTo http://purl.obolibrary.org/obo/SCTID_38573008
http://purl.obolibrary.org/obo/SCTID_308121000
'follicular lymphoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_308121000
http://purl.obolibrary.org/obo/MESH_C562390
http://purl.obolibrary.org/obo/MESH_C562390 EquivalentTo 'humoral hypercalcemia of malignancy'
http://purl.obolibrary.org/obo/MESH_C537392
http://purl.obolibrary.org/obo/MESH_C537392 EquivalentTo 'neurofibromatosis, type IV, of Riccardi'
http://purl.obolibrary.org/obo/SCTID_699301008
'multiple cutaneous and mucosal venous malformations' EquivalentTo http://purl.obolibrary.org/obo/SCTID_699301008
http://purl.obolibrary.org/obo/MESH_C537386
http://purl.obolibrary.org/obo/MESH_C537386 EquivalentTo 'neuroaxonal dystrophy renal tubular acidosis'
http://www.ebi.ac.uk/efo/EFO_0006928
'motion sickness' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0006928
http://www.ebi.ac.uk/efo/EFO_0006926
'acquired aplastic anemia' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0006926
http://purl.obolibrary.org/obo/GARD_0008719
http://purl.obolibrary.org/obo/GARD_0008719 EquivalentTo 'spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome'
http://www.ebi.ac.uk/efo/EFO_0006951
'toxic labyrinthitis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0006951
http://purl.obolibrary.org/obo/GARD_0008717
http://purl.obolibrary.org/obo/GARD_0008717 EquivalentTo 'Odontochondrodysplasia'
http://purl.obolibrary.org/obo/GARD_0008723
http://purl.obolibrary.org/obo/GARD_0008723 EquivalentTo 'chromosome 5q deletion syndrome'
http://purl.obolibrary.org/obo/GARD_0008722
http://purl.obolibrary.org/obo/GARD_0008722 EquivalentTo 'paroxysmal nonkinesigenic dyskinesia 1'
http://purl.obolibrary.org/obo/GARD_0008721
http://purl.obolibrary.org/obo/GARD_0008721 EquivalentTo 'episodic kinesigenic dyskinesia 1'
http://purl.obolibrary.org/obo/GARD_0008729
http://purl.obolibrary.org/obo/GARD_0008729 EquivalentTo 'neurosyphilis'
http://purl.obolibrary.org/obo/GARD_0008731
http://purl.obolibrary.org/obo/GARD_0008731 EquivalentTo 'syphilitic meningitis'
http://purl.obolibrary.org/obo/GARD_0008730
http://purl.obolibrary.org/obo/GARD_0008730 EquivalentTo 'tabes dorsalis'
http://purl.obolibrary.org/obo/SCTID_60573004
'aortic valve stenosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_60573004
http://purl.obolibrary.org/obo/GARD_0008748
http://purl.obolibrary.org/obo/GARD_0008748 EquivalentTo 'Camurati-Engelmann disease, type 2'
http://purl.obolibrary.org/obo/GARD_0008757
http://purl.obolibrary.org/obo/GARD_0008757 EquivalentTo 'pleuropulmonary blastoma'
http://purl.obolibrary.org/obo/GARD_0008750
http://purl.obolibrary.org/obo/GARD_0008750 EquivalentTo 'coxa vara (disease)'
http://purl.obolibrary.org/obo/SCTID_75019001
'cerebral palsy athetoid' EquivalentTo http://purl.obolibrary.org/obo/SCTID_75019001
http://purl.obolibrary.org/obo/SCTID_5758002
'bacterial infectious disease with sepsis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_5758002
http://purl.obolibrary.org/obo/NCIT_C123434
'IgAD1' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C123434
http://purl.obolibrary.org/obo/NCIT_C123413
'Alzheimer disease 4' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C123413
http://purl.obolibrary.org/obo/NCIT_C123412
'Alzheimer disease 3' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C123412
http://purl.obolibrary.org/obo/MESH_C537337
http://purl.obolibrary.org/obo/MESH_C537337 EquivalentTo 'silicosiderosis'
http://purl.obolibrary.org/obo/SCTID_124274002
'adenine phosphoribosyltransferase deficiency' EquivalentTo http://purl.obolibrary.org/obo/SCTID_124274002
http://purl.obolibrary.org/obo/MESH_C537518
http://purl.obolibrary.org/obo/MESH_C537518 EquivalentTo 'podder-tolmie syndrome'
http://purl.obolibrary.org/obo/MESH_C537505
http://purl.obolibrary.org/obo/MESH_C537505 EquivalentTo 'short stature due to growth hormone qualitative anomaly'
http://purl.obolibrary.org/obo/SCTID_47903000
'vitamin b deficiency' EquivalentTo http://purl.obolibrary.org/obo/SCTID_47903000
http://purl.obolibrary.org/obo/SCTID_427795000
'Brucella abortus brucellosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_427795000
http://purl.obolibrary.org/obo/SCTID_26033009
'mycotoxicosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_26033009
http://purl.obolibrary.org/obo/GARD_0008701
http://purl.obolibrary.org/obo/GARD_0008701 EquivalentTo 'osteogenesis imperfecta type 7'
http://purl.obolibrary.org/obo/GARD_0008700
http://purl.obolibrary.org/obo/GARD_0008700 EquivalentTo 'osteogenesis imperfecta type 6'
http://purl.obolibrary.org/obo/GARD_0008709
http://purl.obolibrary.org/obo/GARD_0008709 EquivalentTo 'patella aplasia/hypoplasia'
http://www.orpha.net/ORDO/Orphanet_123271
'hyperreflexia (disease)' EquivalentTo http://www.orpha.net/ORDO/Orphanet_123271
http://purl.obolibrary.org/obo/GARD_0008707
http://purl.obolibrary.org/obo/GARD_0008707 EquivalentTo 'tibial hemimelia'
http://purl.obolibrary.org/obo/GARD_0008713
http://purl.obolibrary.org/obo/GARD_0008713 EquivalentTo 'achondrogenesis type II'
http://purl.obolibrary.org/obo/MESH_C562479
http://purl.obolibrary.org/obo/MESH_C562479 EquivalentTo 'age related macular degeneration 2'
http://purl.obolibrary.org/obo/GARD_0008638
http://purl.obolibrary.org/obo/GARD_0008638 EquivalentTo 'acute leukemia of ambiguous lineage'
http://purl.obolibrary.org/obo/GARD_0008650
http://purl.obolibrary.org/obo/GARD_0008650 EquivalentTo 'undifferentiated (embryonal) sarcoma'
http://www.ebi.ac.uk/efo/EFO_0006835
'pyoderma gangrenosum' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0006835
http://purl.obolibrary.org/obo/GARD_0008600
http://purl.obolibrary.org/obo/GARD_0008600 EquivalentTo 'Saldino-Mainzer syndrome'
http://purl.obolibrary.org/obo/GARD_0008604
http://purl.obolibrary.org/obo/GARD_0008604 EquivalentTo 'acanthoma (disease)'
http://purl.obolibrary.org/obo/GARD_0008614
http://purl.obolibrary.org/obo/GARD_0008614 EquivalentTo 'sickle cell anemia'
http://purl.obolibrary.org/obo/GARD_0008618
http://purl.obolibrary.org/obo/GARD_0008618 EquivalentTo 'primary myelofibrosis'
http://purl.obolibrary.org/obo/GARD_0008616
http://purl.obolibrary.org/obo/GARD_0008616 EquivalentTo 'systemic mastocytosis'
http://purl.obolibrary.org/obo/GARD_0008623
http://purl.obolibrary.org/obo/GARD_0008623 EquivalentTo 'microcephaly-cleft palate syndrome'
http://purl.obolibrary.org/obo/GARD_0008622
http://purl.obolibrary.org/obo/GARD_0008622 EquivalentTo 'Good syndrome'
http://purl.obolibrary.org/obo/GARD_0008621
http://purl.obolibrary.org/obo/GARD_0008621 EquivalentTo 'uveal melanoma'
http://purl.obolibrary.org/obo/GARD_0008627
http://purl.obolibrary.org/obo/GARD_0008627 EquivalentTo 'Krukenberg carcinoma'
http://purl.obolibrary.org/obo/GARD_0008631
http://purl.obolibrary.org/obo/GARD_0008631 EquivalentTo 'chromosome 18p deletion syndrome'
http://purl.obolibrary.org/obo/MESH_C537413
http://purl.obolibrary.org/obo/MESH_C537413 EquivalentTo 'burning mouth syndrome type 3'
http://www.ebi.ac.uk/efo/EFO_0006891
'breast adenosis' EquivalentTo http://www.ebi.ac.uk/efo/EFO_0006891
http://purl.obolibrary.org/obo/SCTID_230500006
'nocturnal paroxysmal dystonia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_230500006
http://purl.obolibrary.org/obo/GARD_0008689
http://purl.obolibrary.org/obo/GARD_0008689 EquivalentTo 'autoimmune enteropathy'
http://purl.obolibrary.org/obo/GARD_0008686
http://purl.obolibrary.org/obo/GARD_0008686 EquivalentTo 'autoimmune lymphoproliferative syndrome'
http://purl.obolibrary.org/obo/SCTID_247153005
'retinal drusen' EquivalentTo http://purl.obolibrary.org/obo/SCTID_247153005
http://www.orpha.net/ORDO/Orphanet_353890
'age related macular degeneration 10' EquivalentTo http://www.orpha.net/ORDO/Orphanet_353890
http://purl.obolibrary.org/obo/GARD_0008680
http://purl.obolibrary.org/obo/GARD_0008680 EquivalentTo 'Wolffian adnexal tumor'
http://purl.obolibrary.org/obo/MESH_C537461
http://purl.obolibrary.org/obo/MESH_C537461 EquivalentTo 'merlob grunebaum reisner syndrome'
http://purl.obolibrary.org/obo/GARD_0008699
http://purl.obolibrary.org/obo/GARD_0008699 EquivalentTo 'osteogenesis imperfecta type 5'
http://purl.obolibrary.org/obo/GARD_0008698
http://purl.obolibrary.org/obo/GARD_0008698 EquivalentTo 'Gnathodiaphyseal dysplasia'
http://purl.obolibrary.org/obo/GARD_0008696
http://purl.obolibrary.org/obo/GARD_0008696 EquivalentTo 'osteogenesis imperfecta type 4'
http://purl.obolibrary.org/obo/GARD_0008695
http://purl.obolibrary.org/obo/GARD_0008695 EquivalentTo 'osteogenesis imperfecta type 3'
http://purl.obolibrary.org/obo/GARD_0008694
http://purl.obolibrary.org/obo/GARD_0008694 EquivalentTo 'osteogenesis imperfecta type 1'
http://purl.obolibrary.org/obo/MESH_C537454
http://purl.obolibrary.org/obo/MESH_C537454 EquivalentTo 'MRX14'
http://purl.obolibrary.org/obo/MESH_C537453
http://purl.obolibrary.org/obo/MESH_C537453 EquivalentTo 'macrocephaly/megalencephaly syndrome, autosomal recessive'
http://purl.obolibrary.org/obo/MESH_C537441
http://purl.obolibrary.org/obo/MESH_C537441 EquivalentTo 'Tricho-oculo-dermo-vertebral syndrome'
http://purl.obolibrary.org/obo/SCTID_193031009
'cluster headache syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_193031009
http://purl.obolibrary.org/obo/NCIT_C123259
'atrophy of testis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C123259
http://purl.obolibrary.org/obo/NCIT_C123225
'cardio-renal syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C123225
http://purl.obolibrary.org/obo/MESH_D013978
http://purl.obolibrary.org/obo/MESH_D013978 EquivalentTo 'tibia fracture'
http://purl.obolibrary.org/obo/SCTID_83351003
'migraine with brainstem aura' EquivalentTo http://purl.obolibrary.org/obo/SCTID_83351003
http://purl.obolibrary.org/obo/GARD_0008524
http://purl.obolibrary.org/obo/GARD_0008524 EquivalentTo 'cavernous hemangiomas of face-supraumbilical midline raphe syndrome'
http://purl.obolibrary.org/obo/GARD_0008521
http://purl.obolibrary.org/obo/GARD_0008521 EquivalentTo 'infantile-onset X-linked spinal muscular atrophy'
http://purl.obolibrary.org/obo/GARD_0008520
http://purl.obolibrary.org/obo/GARD_0008520 EquivalentTo 'syndromic X-linked intellectual disability 5'
http://purl.obolibrary.org/obo/SCTID_36921006
'vesicular stomatitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_36921006
http://purl.obolibrary.org/obo/MESH_C537140
http://purl.obolibrary.org/obo/MESH_C537140 EquivalentTo 'hereditary hemorrhagic telangiectasia type 3'
http://purl.obolibrary.org/obo/GARD_0008529
http://purl.obolibrary.org/obo/GARD_0008529 EquivalentTo 'macrodactyly of fingers'
http://purl.obolibrary.org/obo/GARD_0008527
http://purl.obolibrary.org/obo/GARD_0008527 EquivalentTo 'pulmonary capillary hemangiomatosis'
http://purl.obolibrary.org/obo/GARD_0008532
http://purl.obolibrary.org/obo/GARD_0008532 EquivalentTo 'attenuated familial adenomatous polyposis'
http://purl.obolibrary.org/obo/GARD_0008530
http://purl.obolibrary.org/obo/GARD_0008530 EquivalentTo 'spermatogenic failure 4'
http://purl.obolibrary.org/obo/GARD_0008539
http://purl.obolibrary.org/obo/GARD_0008539 EquivalentTo 'urocanic aciduria (disease)'
http://purl.obolibrary.org/obo/GARD_0008538
http://purl.obolibrary.org/obo/GARD_0008538 EquivalentTo '46,XY disorder of sex development'
http://purl.obolibrary.org/obo/GARD_0008541
http://purl.obolibrary.org/obo/GARD_0008541 EquivalentTo 'primary progressive aphasia'
http://purl.obolibrary.org/obo/MESH_C537126
http://purl.obolibrary.org/obo/MESH_C537126 EquivalentTo 'OPA5'
http://purl.obolibrary.org/obo/GARD_0008549
http://purl.obolibrary.org/obo/GARD_0008549 EquivalentTo 'Mobius syndrome'
http://purl.obolibrary.org/obo/GARD_0008557
http://purl.obolibrary.org/obo/GARD_0008557 EquivalentTo 'MRX14'
http://purl.obolibrary.org/obo/GARD_0008555
http://purl.obolibrary.org/obo/GARD_0008555 EquivalentTo 'dense deposit disease'
http://purl.obolibrary.org/obo/GARD_0008553
http://purl.obolibrary.org/obo/GARD_0008553 EquivalentTo 'infantile convulsions and choreoathetosis'
http://purl.obolibrary.org/obo/MESH_C537196
http://purl.obolibrary.org/obo/MESH_C537196 EquivalentTo 'spinocerebellar ataxia type 14'
http://purl.obolibrary.org/obo/MESH_C537195
http://purl.obolibrary.org/obo/MESH_C537195 EquivalentTo 'spinocerebellar ataxia type 13'
http://purl.obolibrary.org/obo/MESH_C537193
http://purl.obolibrary.org/obo/MESH_C537193 EquivalentTo 'Saal-Bulas syndrome'
http://purl.obolibrary.org/obo/MESH_C537192
http://purl.obolibrary.org/obo/MESH_C537192 EquivalentTo 'Ruzicka-Goerz-Anton syndrome'
http://purl.obolibrary.org/obo/MESH_C537190
http://purl.obolibrary.org/obo/MESH_C537190 EquivalentTo 'ruvalcaba churesigaew myhre syndrome'
http://purl.obolibrary.org/obo/GARD_0008502
http://purl.obolibrary.org/obo/GARD_0008502 EquivalentTo 'coloboma of optic nerve (disease)'
http://purl.obolibrary.org/obo/MESH_C537169
http://purl.obolibrary.org/obo/MESH_C537169 EquivalentTo 'papular urticaria'
http://purl.obolibrary.org/obo/MESH_C537164
http://purl.obolibrary.org/obo/MESH_C537164 EquivalentTo 'panostotic fibrous dysplasia'
http://purl.obolibrary.org/obo/GARD_0008509
http://purl.obolibrary.org/obo/GARD_0008509 EquivalentTo 'AREDYLD syndrome'
http://purl.obolibrary.org/obo/GARD_0008508
http://purl.obolibrary.org/obo/GARD_0008508 EquivalentTo 'Ehlers-Danlos syndrome, fibronectinemic type'
http://purl.obolibrary.org/obo/GARD_0008507
http://purl.obolibrary.org/obo/GARD_0008507 EquivalentTo 'Ehlers-Danlos syndrome due to tenascin-X deficiency'
http://purl.obolibrary.org/obo/GARD_0008514
http://purl.obolibrary.org/obo/GARD_0008514 EquivalentTo 'visceral steatosis, congenital'
http://purl.obolibrary.org/obo/SCTID_186903006
'late latent syphilis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_186903006
http://purl.obolibrary.org/obo/GARD_0008568
http://purl.obolibrary.org/obo/GARD_0008568 EquivalentTo 'acinar cell carcinoma'
http://purl.obolibrary.org/obo/GARD_0008562
http://purl.obolibrary.org/obo/GARD_0008562 EquivalentTo 'Seckel syndrome'
http://purl.obolibrary.org/obo/NCIT_C113824
'twin to twin transfusion syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C113824
http://purl.obolibrary.org/obo/GARD_0008578
http://purl.obolibrary.org/obo/GARD_0008578 EquivalentTo 'PARK3'
http://purl.obolibrary.org/obo/GARD_0008576
http://purl.obolibrary.org/obo/GARD_0008576 EquivalentTo 'Balkan nephropathy'
http://purl.obolibrary.org/obo/GARD_0008575
http://purl.obolibrary.org/obo/GARD_0008575 EquivalentTo 'myasthenia, limb-girdle, autoimmune'
http://purl.obolibrary.org/obo/GARD_0008574
http://purl.obolibrary.org/obo/GARD_0008574 EquivalentTo 'autosomal recessive limb-girdle muscular dystrophy type 2B'
http://purl.obolibrary.org/obo/GARD_0008570
http://purl.obolibrary.org/obo/GARD_0008570 EquivalentTo 'steroid-responsive encephalopathy associated with autoimmune thyroiditis'
http://purl.obolibrary.org/obo/GARD_0008586
http://purl.obolibrary.org/obo/GARD_0008586 EquivalentTo 'cardiocranial syndrome, Pfeiffer type'
http://www.orpha.net/ORDO/Orphanet_123631
'hypertrophic cardiomyopathy 10' EquivalentTo http://www.orpha.net/ORDO/Orphanet_123631
http://purl.obolibrary.org/obo/GARD_0008598
http://purl.obolibrary.org/obo/GARD_0008598 EquivalentTo 'gastrointestinal stromal tumor'
http://purl.obolibrary.org/obo/GARD_0008595
http://purl.obolibrary.org/obo/GARD_0008595 EquivalentTo 'familial isolated deficiency of vitamin E'
http://purl.obolibrary.org/obo/GARD_0008592
http://purl.obolibrary.org/obo/GARD_0008592 EquivalentTo 'autosomal recessive distal spinal muscular atrophy 1'
http://purl.obolibrary.org/obo/SCTID_66987001
'congenital lobar emphysema' EquivalentTo http://purl.obolibrary.org/obo/SCTID_66987001
http://purl.obolibrary.org/obo/MONDO_0030502
tetrasomy
'tetrasomy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C36601
'tetrasomy' SubClassOf 'chromosomal anomaly'
'tetrasomy' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001297
http://purl.obolibrary.org/obo/SCTID_205655003
'trisomy 22' EquivalentTo http://purl.obolibrary.org/obo/SCTID_205655003
http://purl.obolibrary.org/obo/SCTID_126778001
'tongue neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_126778001
http://purl.obolibrary.org/obo/GARD_0008402
http://purl.obolibrary.org/obo/GARD_0008402 EquivalentTo 'Gaisbock syndrome'
http://purl.obolibrary.org/obo/GARD_0008401
http://purl.obolibrary.org/obo/GARD_0008401 EquivalentTo 'lactocele'
http://purl.obolibrary.org/obo/SCTID_12381000132107
'ichthyosis prematurity syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_12381000132107
http://purl.obolibrary.org/obo/MESH_C537266
http://purl.obolibrary.org/obo/MESH_C537266 EquivalentTo 'Landy-Donnai syndrome'
http://purl.obolibrary.org/obo/GARD_0008407
http://purl.obolibrary.org/obo/GARD_0008407 EquivalentTo 'Feingold syndrome'
http://purl.obolibrary.org/obo/GARD_0008416
http://purl.obolibrary.org/obo/GARD_0008416 EquivalentTo 'focal facial dermal dysplasia type I'
http://purl.obolibrary.org/obo/GARD_0008414
http://purl.obolibrary.org/obo/GARD_0008414 EquivalentTo 'van der Woude syndrome'
http://purl.obolibrary.org/obo/GARD_0008410
http://purl.obolibrary.org/obo/GARD_0008410 EquivalentTo 'postaxial acrofacial dysostosis'
http://purl.obolibrary.org/obo/MESH_C537258
http://purl.obolibrary.org/obo/MESH_C537258 EquivalentTo 'fibrolamellar carcinoma'
http://purl.obolibrary.org/obo/GARD_0008419
http://purl.obolibrary.org/obo/GARD_0008419 EquivalentTo 'isolated optic nerve hypoplasia'
http://purl.obolibrary.org/obo/GARD_0008427
http://purl.obolibrary.org/obo/GARD_0008427 EquivalentTo 'MHC class I deficiency'
http://purl.obolibrary.org/obo/GARD_0008423
http://purl.obolibrary.org/obo/GARD_0008423 EquivalentTo 'Richards-Rundle syndrome'
http://purl.obolibrary.org/obo/GARD_0008421
http://purl.obolibrary.org/obo/GARD_0008421 EquivalentTo 'tetrasomy 12p'
http://purl.obolibrary.org/obo/MESH_C537244
http://purl.obolibrary.org/obo/MESH_C537244 EquivalentTo 'prostatic malacoplakia associated with prostatic abscess'
http://purl.obolibrary.org/obo/MESH_C537241
http://purl.obolibrary.org/obo/MESH_C537241 EquivalentTo 'properdin deficiency'
http://purl.obolibrary.org/obo/GARD_0008436
http://purl.obolibrary.org/obo/GARD_0008436 EquivalentTo 'frontotemporal dementia'
http://purl.obolibrary.org/obo/GARD_0008433
http://purl.obolibrary.org/obo/GARD_0008433 EquivalentTo 'King-Denborough syndrome'
http://purl.obolibrary.org/obo/GARD_0008432
http://purl.obolibrary.org/obo/GARD_0008432 EquivalentTo 'Native American myopathy'
http://purl.obolibrary.org/obo/SCTID_7678002
'cytomegalovirus pneumonia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_7678002
http://purl.obolibrary.org/obo/SCTID_89449005
'primary systemic amyloidosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_89449005
http://purl.obolibrary.org/obo/MESH_C537285
http://purl.obolibrary.org/obo/MESH_C537285 EquivalentTo 'Gomez-Lopez-Hernandez syndrome'
http://purl.obolibrary.org/obo/GARD_0008486
http://purl.obolibrary.org/obo/GARD_0008486 EquivalentTo 'Ehlers-Danlos syndrome, musculocontractural type'
http://purl.obolibrary.org/obo/GARD_0008482
http://purl.obolibrary.org/obo/GARD_0008482 EquivalentTo 'thumb deformity (disease)'
http://purl.obolibrary.org/obo/GARD_0008480
http://purl.obolibrary.org/obo/GARD_0008480 EquivalentTo 'autosomal recessive cutis laxa type 1'
http://purl.obolibrary.org/obo/GARD_0008498
http://purl.obolibrary.org/obo/GARD_0008498 EquivalentTo 'VACTERL association, X-linked, with or without hydrocephalus'
http://purl.obolibrary.org/obo/GARD_0008495
http://purl.obolibrary.org/obo/GARD_0008495 EquivalentTo 'African iron overload'
http://purl.obolibrary.org/obo/GARD_0008490
http://purl.obolibrary.org/obo/GARD_0008490 EquivalentTo 'ectopia pupillae (disease)'
http://purl.obolibrary.org/obo/MESH_C537233
http://purl.obolibrary.org/obo/MESH_C537233 EquivalentTo 'Sandhaus-Ben-Ami syndrome'
http://purl.obolibrary.org/obo/MESH_C537232
http://purl.obolibrary.org/obo/MESH_C537232 EquivalentTo 'Sanderson-Fraser syndrome'
http://purl.obolibrary.org/obo/MESH_C537230
http://purl.obolibrary.org/obo/MESH_C537230 EquivalentTo 'Samson-Gardner syndrome'
http://purl.obolibrary.org/obo/MESH_C537222
http://purl.obolibrary.org/obo/MESH_C537222 EquivalentTo 'sacral hemangiomas multiple congenital abnormalities'
http://purl.obolibrary.org/obo/GARD_0008457
http://purl.obolibrary.org/obo/GARD_0008457 EquivalentTo 'autosomal dominant familial periodic fever'
http://purl.obolibrary.org/obo/GARD_0008452
http://purl.obolibrary.org/obo/GARD_0008452 EquivalentTo 'blue nevus'
http://purl.obolibrary.org/obo/MESH_D013798
http://purl.obolibrary.org/obo/MESH_D013798 EquivalentTo 'thecoma'
http://purl.obolibrary.org/obo/SCTID_237960000
'D-2-hydroxyglutaric aciduria' EquivalentTo http://purl.obolibrary.org/obo/SCTID_237960000
http://purl.obolibrary.org/obo/GARD_0008468
http://purl.obolibrary.org/obo/GARD_0008468 EquivalentTo 'melanoma and neural system tumor syndrome'
http://purl.obolibrary.org/obo/GARD_0008466
http://purl.obolibrary.org/obo/GARD_0008466 EquivalentTo 'autoimmune polyendocrine syndrome type 1'
http://purl.obolibrary.org/obo/MESH_C537219
http://purl.obolibrary.org/obo/MESH_C537219 EquivalentTo 'Sackey-Sakati-Aur syndrome'
http://purl.obolibrary.org/obo/MESH_C537201
http://purl.obolibrary.org/obo/MESH_C537201 EquivalentTo 'spinocerebellar ataxia type 23'
http://purl.obolibrary.org/obo/MESH_C537200
http://purl.obolibrary.org/obo/MESH_C537200 EquivalentTo 'spinocerebellar ataxia type 21'
http://purl.obolibrary.org/obo/SCTID_21851000119103
'malignant adrenal gland pheochromocytoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_21851000119103
http://purl.obolibrary.org/obo/GARD_0008479
http://purl.obolibrary.org/obo/GARD_0008479 EquivalentTo 'FMDF'
http://purl.obolibrary.org/obo/GARD_0008476
http://purl.obolibrary.org/obo/GARD_0008476 EquivalentTo 'Leber optic atrophy and dystonia'
http://purl.obolibrary.org/obo/GARD_0008472
http://purl.obolibrary.org/obo/GARD_0008472 EquivalentTo 'Muckle-Wells syndrome'
http://purl.obolibrary.org/obo/GARD_0008471
http://purl.obolibrary.org/obo/GARD_0008471 EquivalentTo 'X-linked recessive ocular albinism'
http://purl.obolibrary.org/obo/GARD_0008470
http://purl.obolibrary.org/obo/GARD_0008470 EquivalentTo 'Lambotte syndrome'
http://purl.obolibrary.org/obo/MESH_C537205
http://purl.obolibrary.org/obo/MESH_C537205 EquivalentTo 'spinocerebellar ataxia type 28'
http://purl.obolibrary.org/obo/NCIT_C35823
'splenic disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35823
http://purl.obolibrary.org/obo/MESH_D003968
http://purl.obolibrary.org/obo/MESH_D003968 EquivalentTo 'infantile diarrhea'
http://purl.obolibrary.org/obo/MESH_D003967
http://purl.obolibrary.org/obo/MESH_D003967 EquivalentTo 'diarrhea (disease)'
http://purl.obolibrary.org/obo/MESH_C537828
http://purl.obolibrary.org/obo/MESH_C537828 EquivalentTo 'partial deletion of the long arm of chromosome 8'
http://purl.obolibrary.org/obo/MESH_C537822
http://purl.obolibrary.org/obo/MESH_C537822 EquivalentTo 'mosaic trisomy 7'
http://purl.obolibrary.org/obo/MESH_C537821
http://purl.obolibrary.org/obo/MESH_C537821 EquivalentTo 'partial duplication of the long arm of chromosome 7'
http://purl.obolibrary.org/obo/MESH_C537819
http://purl.obolibrary.org/obo/MESH_C537819 EquivalentTo 'partial duplication of the short arm of chromosome 7'
http://purl.obolibrary.org/obo/MESH_C537812
http://purl.obolibrary.org/obo/MESH_C537812 EquivalentTo 'partial duplication of the long arm of chromosome 6'
http://purl.obolibrary.org/obo/MESH_C537811
http://purl.obolibrary.org/obo/MESH_C537811 EquivalentTo 'partial duplication of the short arm of chromosome 6'
http://purl.obolibrary.org/obo/MESH_C537807
http://purl.obolibrary.org/obo/MESH_C537807 EquivalentTo 'partial deletion of the long arm of chromosome 6'
http://purl.obolibrary.org/obo/SCTID_36813001
'placenta praevia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_36813001
http://purl.obolibrary.org/obo/MESH_C537875
http://purl.obolibrary.org/obo/MESH_C537875 EquivalentTo 'laryngotracheoesophageal cleft'
http://purl.obolibrary.org/obo/SCTID_398064005
'neurogenic bladder (disease)' EquivalentTo http://purl.obolibrary.org/obo/SCTID_398064005
http://purl.obolibrary.org/obo/NCIT_C35878
'monoclonal paraproteinemia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35878
http://linkedlifedata.com/resource/umls/id/C0854912
http://linkedlifedata.com/resource/umls/id/C0854912 EquivalentTo 'pineal region germinoma'
http://purl.obolibrary.org/obo/NCIT_C35885
'polyclonal hypergammaglobulinemia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35885
http://purl.obolibrary.org/obo/MESH_C537855
http://purl.obolibrary.org/obo/MESH_C537855 EquivalentTo 'NYS3'
http://purl.obolibrary.org/obo/SCTID_268029009
'pathologic fracture' EquivalentTo http://purl.obolibrary.org/obo/SCTID_268029009
http://purl.obolibrary.org/obo/SCTID_445236007
'cardio-renal syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_445236007
http://purl.obolibrary.org/obo/NCIT_C35803
'zoonoses' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35803
http://purl.obolibrary.org/obo/SCTID_231504006
'mixed anxiety and depressive disorder' EquivalentTo http://purl.obolibrary.org/obo/SCTID_231504006
http://purl.obolibrary.org/obo/SCTID_237833006
'carcinoid crisis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_237833006
http://purl.obolibrary.org/obo/SCTID_404042005
'melanotic neuroectodermal tumor' EquivalentTo http://purl.obolibrary.org/obo/SCTID_404042005
http://purl.obolibrary.org/obo/MESH_C537783
http://purl.obolibrary.org/obo/MESH_C537783 EquivalentTo 'Loeys-Dietz syndrome 2'
http://purl.obolibrary.org/obo/MESH_C537782
http://purl.obolibrary.org/obo/MESH_C537782 EquivalentTo 'congenital aortopulmonary window'
http://purl.obolibrary.org/obo/NCIT_C45256
'vitreous body disorder' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C45256
http://purl.obolibrary.org/obo/NCIT_C84808
'Leber hereditary optic neuropathy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84808
http://purl.obolibrary.org/obo/MESH_C537762
http://purl.obolibrary.org/obo/MESH_C537762 EquivalentTo 'mosaic trisomy 5'
http://purl.obolibrary.org/obo/NCIT_C84881
'Mallory-Weiss syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84881
http://purl.obolibrary.org/obo/MESH_D013203
http://purl.obolibrary.org/obo/MESH_D013203 EquivalentTo 'staphylococcal infection'
http://purl.obolibrary.org/obo/MESH_D003873
http://purl.obolibrary.org/obo/MESH_D003873 EquivalentTo 'exfoliative dermatitis'
http://purl.obolibrary.org/obo/MESH_C562731
http://purl.obolibrary.org/obo/MESH_C562731 EquivalentTo 'dermoid cyst of ovary'
http://purl.obolibrary.org/obo/MESH_C562740
http://purl.obolibrary.org/obo/MESH_C562740 EquivalentTo 'hemangiopericytoma, malignant'
http://purl.obolibrary.org/obo/MESH_C562746
http://purl.obolibrary.org/obo/MESH_C562746 EquivalentTo 'retinal macular dystrophy type 2'
http://purl.obolibrary.org/obo/MESH_C537940
http://purl.obolibrary.org/obo/MESH_C537940 EquivalentTo 'mosaic trisomy 8'
http://purl.obolibrary.org/obo/MESH_C537945
http://purl.obolibrary.org/obo/MESH_C537945 EquivalentTo 'spastic diplegia cerebral palsy'
http://purl.obolibrary.org/obo/MESH_C537942
http://purl.obolibrary.org/obo/MESH_C537942 EquivalentTo 'chromosome 8, trisomy'
http://purl.obolibrary.org/obo/MESH_C562934
http://purl.obolibrary.org/obo/MESH_C562934 EquivalentTo 'myopathy, centronuclear, 2'
http://purl.obolibrary.org/obo/SCTID_126788000
'parotid gland neoplasm' EquivalentTo http://purl.obolibrary.org/obo/SCTID_126788000
http://purl.obolibrary.org/obo/NCIT_C84920
'nephrogenic systemic fibrosis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84920
http://purl.obolibrary.org/obo/MESH_C537972
http://purl.obolibrary.org/obo/MESH_C537972 EquivalentTo 'camptodactyly-taurinuria syndrome'
http://purl.obolibrary.org/obo/MESH_C537968
http://purl.obolibrary.org/obo/MESH_C537968 EquivalentTo 'idiopathic camptocormia'
http://purl.obolibrary.org/obo/SCTID_362973001
'puerperal disorder' EquivalentTo http://purl.obolibrary.org/obo/SCTID_362973001
http://purl.obolibrary.org/obo/MESH_C537913
http://purl.obolibrary.org/obo/MESH_C537913 EquivalentTo 'acromesomelic dysplasia, Demirhan type'
http://purl.obolibrary.org/obo/SCTID_48124008
'fibrosis of bile duct' EquivalentTo http://purl.obolibrary.org/obo/SCTID_48124008
http://purl.obolibrary.org/obo/MESH_D062108
http://purl.obolibrary.org/obo/MESH_D062108 EquivalentTo 'May-Thurner syndrome'
http://purl.obolibrary.org/obo/MESH_D013124
http://purl.obolibrary.org/obo/MESH_D013124 EquivalentTo 'spinal injury'
http://purl.obolibrary.org/obo/MESH_D013122
http://purl.obolibrary.org/obo/MESH_D013122 EquivalentTo 'vertebral column disease'
http://purl.obolibrary.org/obo/MESH_D013119
http://purl.obolibrary.org/obo/MESH_D013119 EquivalentTo 'spinal cord injuries'
http://purl.obolibrary.org/obo/MESH_C537897
http://purl.obolibrary.org/obo/MESH_C537897 EquivalentTo 'phosphoribosylpyrophosphate synthetase deficiency'
http://purl.obolibrary.org/obo/NCIT_C45372
'eye infectious disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C45372
http://purl.obolibrary.org/obo/MESH_C537893
http://purl.obolibrary.org/obo/MESH_C537893 EquivalentTo 'phakomatosis pigmentokeratotica'
http://purl.obolibrary.org/obo/MESH_C537891
http://purl.obolibrary.org/obo/MESH_C537891 EquivalentTo 'pfeiffer tietze welte syndrome'
http://purl.obolibrary.org/obo/MESH_C537890
http://purl.obolibrary.org/obo/MESH_C537890 EquivalentTo 'pfeiffer rockelein syndrome'
http://purl.obolibrary.org/obo/SCTID_55735004
'respiratory syncytial virus infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_55735004
http://purl.obolibrary.org/obo/MESH_C537885
http://purl.obolibrary.org/obo/MESH_C537885 EquivalentTo 'Peters anomaly-cataract syndrome'
http://purl.obolibrary.org/obo/NCIT_C84935
'neurosyphilis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84935
http://purl.obolibrary.org/obo/NCIT_C84975
'ossification of the posterior longitudinal ligament of the spine' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84975
http://purl.obolibrary.org/obo/NCIT_C133085
'ermine phenotype' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C133085
http://purl.obolibrary.org/obo/SCTID_20052008
'hereditary fructose intolerance' EquivalentTo http://purl.obolibrary.org/obo/SCTID_20052008
http://purl.obolibrary.org/obo/MESH_C537639
http://purl.obolibrary.org/obo/MESH_C537639 EquivalentTo 'partial deletion of the long arm of chromosome 4'
http://purl.obolibrary.org/obo/SCTID_128351009
'eye infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_128351009
http://purl.obolibrary.org/obo/NCIT_C45426
'collagenous sprue' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C45426
http://www.orpha.net/ORDO/Orphanet_98770
'spinocerebellar ataxia type 16' EquivalentTo http://www.orpha.net/ORDO/Orphanet_98770
http://purl.obolibrary.org/obo/SCTID_239918008
'undifferentiated connective tissue syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_239918008
http://purl.obolibrary.org/obo/SCTID_444830001
'nephronophthisis 1' EquivalentTo http://purl.obolibrary.org/obo/SCTID_444830001
http://purl.obolibrary.org/obo/MESH_C562593
http://purl.obolibrary.org/obo/MESH_C562593 EquivalentTo 'xeroderma pigmentosum group G'
http://purl.obolibrary.org/obo/MESH_C562590
http://purl.obolibrary.org/obo/MESH_C562590 EquivalentTo 'xeroderma pigmentosum group B'
http://purl.obolibrary.org/obo/MESH_C537554
http://purl.obolibrary.org/obo/MESH_C537554 EquivalentTo 'microgastria-limb reduction defect syndrome'
http://purl.obolibrary.org/obo/MESH_C537553
http://purl.obolibrary.org/obo/MESH_C537553 EquivalentTo 'microdontia hypodontia short stature'
http://purl.obolibrary.org/obo/MESH_C537551
http://purl.obolibrary.org/obo/MESH_C537551 EquivalentTo 'microcornea-corectopia-macular hypoplasia syndrome'
http://purl.obolibrary.org/obo/SCTID_269476000
'neoplasm of mature B-cells' EquivalentTo http://purl.obolibrary.org/obo/SCTID_269476000
http://purl.obolibrary.org/obo/MESH_C537545
http://purl.obolibrary.org/obo/MESH_C537545 EquivalentTo 'microcephaly sparse hair mental retardation seizures'
http://purl.obolibrary.org/obo/MESH_C537544
http://purl.obolibrary.org/obo/MESH_C537544 EquivalentTo 'microcephaly-seizures-intellectual disability-heart disease syndrome'
http://purl.obolibrary.org/obo/MESH_C537542
http://purl.obolibrary.org/obo/MESH_C537542 EquivalentTo 'isolated microcephaly'
http://purl.obolibrary.org/obo/MESH_C537541
http://purl.obolibrary.org/obo/MESH_C537541 EquivalentTo 'microcephaly microphthalmos blindness'
http://purl.obolibrary.org/obo/MESH_C537540
http://purl.obolibrary.org/obo/MESH_C537540 EquivalentTo 'microcephaly micropenis convulsions'
http://purl.obolibrary.org/obo/MESH_D013479
http://purl.obolibrary.org/obo/MESH_D013479 EquivalentTo 'superior vena cava syndrome'
http://purl.obolibrary.org/obo/SCTID_197352008
'drug-induced liver injury' EquivalentTo http://purl.obolibrary.org/obo/SCTID_197352008
http://purl.obolibrary.org/obo/NCIT_C70428
'serositis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C70428
http://purl.obolibrary.org/obo/MESH_C537524
http://purl.obolibrary.org/obo/MESH_C537524 EquivalentTo 'diabetic mastopathy'
http://purl.obolibrary.org/obo/MESH_C537597
http://purl.obolibrary.org/obo/MESH_C537597 EquivalentTo 'short limb dwarf lethal colavita kozlowski type'
http://purl.obolibrary.org/obo/MESH_C537576
http://purl.obolibrary.org/obo/MESH_C537576 EquivalentTo 'michels caskey syndrome'
http://purl.obolibrary.org/obo/MESH_C537722
http://purl.obolibrary.org/obo/MESH_C537722 EquivalentTo 'macrogyria, pseudobulbar palsy and mental retardation'
http://purl.obolibrary.org/obo/SCTID_126499002
'palpebral epidermal tumor' EquivalentTo http://purl.obolibrary.org/obo/SCTID_126499002
http://purl.obolibrary.org/obo/SCTID_9062008
'toxic labyrinthitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_9062008
http://purl.obolibrary.org/obo/SCTID_254867003
'ovarian gynandroblastoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_254867003
http://purl.obolibrary.org/obo/ICD10_E70.3
http://purl.obolibrary.org/obo/ICD10_E70.3 EquivalentTo 'albinism'
http://purl.obolibrary.org/obo/SCTID_715561008
'hereditary papillary renal cell carcinoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_715561008
http://purl.obolibrary.org/obo/NCIT_C123729
'primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C123729
http://purl.obolibrary.org/obo/SCTID_238700008
'carbon baby syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_238700008
http://purl.obolibrary.org/obo/SCTID_205132000
'preaxial polydactyly of toes' EquivalentTo http://purl.obolibrary.org/obo/SCTID_205132000
http://purl.obolibrary.org/obo/MESH_D013365
http://purl.obolibrary.org/obo/MESH_D013365 EquivalentTo 'submandibular gland neoplasm'
http://purl.obolibrary.org/obo/MESH_D013362
http://purl.obolibrary.org/obo/MESH_D013362 EquivalentTo 'sublingual gland neoplasm'
http://purl.obolibrary.org/obo/MESH_C537650
http://purl.obolibrary.org/obo/MESH_C537650 EquivalentTo 'partial trisomy of the long arm of chromosome 5'
http://purl.obolibrary.org/obo/MESH_C537657
http://purl.obolibrary.org/obo/MESH_C537657 EquivalentTo 'IBGC2'
http://purl.obolibrary.org/obo/MESH_C537644
http://purl.obolibrary.org/obo/MESH_C537644 EquivalentTo 'partial duplication of the long arm of chromosome 4'
http://linkedlifedata.com/resource/umls/id/C2931284
http://linkedlifedata.com/resource/umls/id/C2931284 EquivalentTo 'Slti-Salem syndrome'
http://purl.obolibrary.org/obo/MESH_C562618
http://purl.obolibrary.org/obo/MESH_C562618 EquivalentTo 'porphyria due to ALA dehydratase deficiency'
http://purl.obolibrary.org/obo/SCTID_45142002
'congenital pulmonary lymphangiectasia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_45142002
http://purl.obolibrary.org/obo/MESH_C562628
http://purl.obolibrary.org/obo/MESH_C562628 EquivalentTo 'cutis laxa, autosomal recessive, type 1A'
http://purl.obolibrary.org/obo/SCTID_77507001
'hearing loss, mixed conductive-sensorineural' EquivalentTo http://purl.obolibrary.org/obo/SCTID_77507001
http://purl.obolibrary.org/obo/SCTID_52330001
'meningoencephalocele' EquivalentTo http://purl.obolibrary.org/obo/SCTID_52330001
http://purl.obolibrary.org/obo/GO_0042088
http://purl.obolibrary.org/obo/SCTID_91956006
'Machado-Joseph disease type 4' EquivalentTo http://purl.obolibrary.org/obo/SCTID_91956006
http://purl.obolibrary.org/obo/GO_0042092
http://purl.obolibrary.org/obo/SCTID_47032000
'congenital hydrocephalus' EquivalentTo http://purl.obolibrary.org/obo/SCTID_47032000
http://purl.obolibrary.org/obo/GARD_0004439
http://purl.obolibrary.org/obo/GARD_0004439 EquivalentTo 'punctate palmoplantar keratoderma type 2'
http://purl.obolibrary.org/obo/GARD_0004436
http://purl.obolibrary.org/obo/GARD_0004436 EquivalentTo 'Bartsocas-Papas syndrome'
http://purl.obolibrary.org/obo/GARD_0004438
http://purl.obolibrary.org/obo/GARD_0004438 EquivalentTo 'porokeratosis of Mibelli'
http://purl.obolibrary.org/obo/GARD_0004437
http://purl.obolibrary.org/obo/GARD_0004437 EquivalentTo 'porencephaly-cerebellar hypoplasia-internal malformations syndrome'
http://purl.obolibrary.org/obo/GARD_0004446
http://purl.obolibrary.org/obo/GARD_0004446 EquivalentTo 'cutaneous porphyria'
http://purl.obolibrary.org/obo/GARD_0004454
http://purl.obolibrary.org/obo/GARD_0004454 EquivalentTo 'postpoliomyelitis syndrome'
http://purl.obolibrary.org/obo/GARD_0004457
http://purl.obolibrary.org/obo/GARD_0004457 EquivalentTo 'posterior uveitis'
http://purl.obolibrary.org/obo/GARD_0004459
http://purl.obolibrary.org/obo/GARD_0004459 EquivalentTo 'potassium-aggravated myotonia'
http://purl.obolibrary.org/obo/GARD_0004462
http://purl.obolibrary.org/obo/GARD_0004462 EquivalentTo 'Potter syndrome'
http://purl.obolibrary.org/obo/GARD_0004475
http://purl.obolibrary.org/obo/GARD_0004475 EquivalentTo 'familial male-limited precocious puberty'
http://purl.obolibrary.org/obo/GARD_0004478
http://purl.obolibrary.org/obo/GARD_0004478 EquivalentTo 'premature aging syndrome, Okamoto type'
http://purl.obolibrary.org/obo/GARD_0004470
http://purl.obolibrary.org/obo/GARD_0004470 EquivalentTo 'Guttmacher syndrome'
http://www.orpha.net/ORDO/Orphanet_489978
'Wernicke-Korsakoff syndrome' EquivalentTo http://www.orpha.net/ORDO/Orphanet_489978
http://purl.obolibrary.org/obo/GARD_0004410
http://purl.obolibrary.org/obo/GARD_0004410 EquivalentTo 'non-syndromic polydactyly'
http://purl.obolibrary.org/obo/GARD_0004417
http://purl.obolibrary.org/obo/GARD_0004417 EquivalentTo 'polydactyly of a biphalangeal thumb'
http://purl.obolibrary.org/obo/GARD_0004421
http://purl.obolibrary.org/obo/GARD_0004421 EquivalentTo 'catecholaminergic polymorphic ventricular tachycardia'
http://purl.obolibrary.org/obo/GARD_0004428
http://purl.obolibrary.org/obo/GARD_0004428 EquivalentTo 'polysyndactyly-cardiac malformation syndrome'
http://purl.obolibrary.org/obo/GARD_0004424
http://purl.obolibrary.org/obo/GARD_0004424 EquivalentTo 'polyneuropathy-intellectual disability-acromicria-premature menopause syndrome'
http://purl.obolibrary.org/obo/NCIT_C84445
'non-alcoholic steatohepatitis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84445
http://purl.obolibrary.org/obo/NCIT_C84411
'cirrhosis, familial' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84411
http://purl.obolibrary.org/obo/GARD_0004359
http://purl.obolibrary.org/obo/GARD_0004359 EquivalentTo 'ringed hair disease'
http://purl.obolibrary.org/obo/GARD_0004365
http://purl.obolibrary.org/obo/GARD_0004365 EquivalentTo 'Ophthalmomandibulomelic dysplasia'
http://purl.obolibrary.org/obo/GARD_0004362
http://purl.obolibrary.org/obo/GARD_0004362 EquivalentTo 'pili torti-developmental delay-neurological abnormalities syndrome'
http://purl.obolibrary.org/obo/GARD_0004361
http://purl.obolibrary.org/obo/GARD_0004361 EquivalentTo 'pili torti (disease)'
http://purl.obolibrary.org/obo/GARD_0004364
http://purl.obolibrary.org/obo/GARD_0004364 EquivalentTo 'ectodermal dysplasia 4, hair/nail type'
http://purl.obolibrary.org/obo/GARD_0004369
http://purl.obolibrary.org/obo/GARD_0004369 EquivalentTo 'Trichodermodysplasia-dental alterations syndrome'
http://purl.obolibrary.org/obo/GARD_0004377
http://purl.obolibrary.org/obo/GARD_0004377 EquivalentTo 'X-linked intellectual disability-plagiocephaly syndrome'
http://purl.obolibrary.org/obo/GARD_0004371
http://purl.obolibrary.org/obo/GARD_0004371 EquivalentTo 'refsum disease with increased pipecolic acidemia'
http://purl.obolibrary.org/obo/SCTID_237113009
'pelvic organ prolapse' EquivalentTo http://purl.obolibrary.org/obo/SCTID_237113009
http://purl.obolibrary.org/obo/GARD_0004387
http://purl.obolibrary.org/obo/GARD_0004387 EquivalentTo 'podder-tolmie syndrome'
http://purl.obolibrary.org/obo/GARD_0004380
http://purl.obolibrary.org/obo/GARD_0004380 EquivalentTo 'hypoplasminogenemia'
http://purl.obolibrary.org/obo/GARD_0004382
http://purl.obolibrary.org/obo/GARD_0004382 EquivalentTo 'Platyspondylic dysplasia, Torrance type'
http://purl.obolibrary.org/obo/GARD_0004381
http://purl.obolibrary.org/obo/GARD_0004381 EquivalentTo 'congenital plasminogen activator inhibitor type 1 deficiency'
http://purl.obolibrary.org/obo/GARD_0004395
http://purl.obolibrary.org/obo/GARD_0004395 EquivalentTo 'pointer syndrome'
http://purl.obolibrary.org/obo/GARD_0004391
http://purl.obolibrary.org/obo/GARD_0004391 EquivalentTo 'Kindler syndrome'
http://purl.obolibrary.org/obo/GARD_0004392
http://purl.obolibrary.org/obo/GARD_0004392 EquivalentTo 'Rothmund-Thomson syndrome'
http://purl.obolibrary.org/obo/NCIT_C35420
'phobic disorder' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35420
http://purl.obolibrary.org/obo/MESH_D003444
http://purl.obolibrary.org/obo/MESH_D003444 EquivalentTo 'crush syndrome'
http://purl.obolibrary.org/obo/NCIT_C35458
'substance dependence' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35458
http://purl.obolibrary.org/obo/NCIT_C35464
'granulomatous slack skin' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35464
http://purl.obolibrary.org/obo/MESH_D003428
http://purl.obolibrary.org/obo/MESH_D003428 EquivalentTo 'nosocomial infection'
http://purl.obolibrary.org/obo/NCIT_C35492
'cancerophobia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35492
http://purl.obolibrary.org/obo/SCTID_28183005
'fructose-1,6-bisphosphatase deficiency' EquivalentTo http://purl.obolibrary.org/obo/SCTID_28183005
http://purl.obolibrary.org/obo/MONDO_0040998
Pasteurella multocida infectious disease
'Pasteurella multocida infectious disease' SubClassOf 'pasteurellosis'
'Pasteurella multocida infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_197718007
'Pasteurella multocida infectious disease' SubClassOf 'realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_747
'Pasteurella multocida infectious disease' EquivalentTo 'infectious disease' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_747)
http://purl.obolibrary.org/obo/MONDO_0040964
superimposed infection
'superimposed infection' SubClassOf 'infectious disease'
'superimposed infection' EquivalentTo http://purl.obolibrary.org/obo/SCTID_193198003
http://purl.obolibrary.org/obo/NCIT_C35503
'digestive system infectious disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35503
http://purl.obolibrary.org/obo/SCTID_186437007
'Proteus infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_186437007
http://purl.obolibrary.org/obo/SCTID_422470007
'Warthin tumor' EquivalentTo http://purl.obolibrary.org/obo/SCTID_422470007
http://purl.obolibrary.org/obo/NCIT_C35530
'thrombocytosis disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35530
http://purl.obolibrary.org/obo/GARD_0004315
http://purl.obolibrary.org/obo/GARD_0004315 EquivalentTo 'phenobarbital embryopathy'
http://purl.obolibrary.org/obo/GARD_0004323
http://purl.obolibrary.org/obo/GARD_0004323 EquivalentTo 'phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome'
http://purl.obolibrary.org/obo/SCTID_33806008
'endarteritis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_33806008
http://purl.obolibrary.org/obo/GARD_0004329
http://purl.obolibrary.org/obo/GARD_0004329 EquivalentTo 'PGM1-CDG'
http://purl.obolibrary.org/obo/GARD_0004331
http://purl.obolibrary.org/obo/GARD_0004331 EquivalentTo 'PGM3-CDG'
http://purl.obolibrary.org/obo/GARD_0004337
http://purl.obolibrary.org/obo/GARD_0004337 EquivalentTo 'phosphoribosylpyrophosphate synthetase deficiency'
http://purl.obolibrary.org/obo/GARD_0004346
http://purl.obolibrary.org/obo/GARD_0004346 EquivalentTo 'autosomal dominant cerebellar ataxia'
http://purl.obolibrary.org/obo/GARD_0004345
http://purl.obolibrary.org/obo/GARD_0004345 EquivalentTo 'piepkorn karp hickok syndrome'
http://purl.obolibrary.org/obo/GARD_0004347
http://purl.obolibrary.org/obo/GARD_0004347 EquivalentTo 'isolated Pierre-Robin syndrome'
http://purl.obolibrary.org/obo/GARD_0004354
http://purl.obolibrary.org/obo/GARD_0004354 EquivalentTo 'isolated Pierre-Robin syndrome'
http://purl.obolibrary.org/obo/GARD_0004357
http://purl.obolibrary.org/obo/GARD_0004357 EquivalentTo 'late-onset retinal degenration'
http://purl.obolibrary.org/obo/GARD_0004351
http://purl.obolibrary.org/obo/GARD_0004351 EquivalentTo 'Weissenbacher-Zweymuller syndrome'
http://purl.obolibrary.org/obo/GARD_0004308
http://purl.obolibrary.org/obo/GARD_0004308 EquivalentTo 'pfeiffer tietze welte syndrome'
http://purl.obolibrary.org/obo/GARD_0004304
http://purl.obolibrary.org/obo/GARD_0004304 EquivalentTo 'preaxial polydactyly-colobomata-intellectual disability syndrome'
http://purl.obolibrary.org/obo/GARD_0004303
http://purl.obolibrary.org/obo/GARD_0004303 EquivalentTo 'deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome'
http://purl.obolibrary.org/obo/GARD_0004306
http://purl.obolibrary.org/obo/GARD_0004306 EquivalentTo 'pfeiffer rockelein syndrome'
http://purl.obolibrary.org/obo/GARD_0004311
http://purl.obolibrary.org/obo/GARD_0004311 EquivalentTo 'phakomatosis pigmentokeratotica'
http://purl.obolibrary.org/obo/GARD_0004312
http://purl.obolibrary.org/obo/GARD_0004312 EquivalentTo 'phakomatosis pigmentovascularis'
http://purl.obolibrary.org/obo/NCIT_C84565
'anthrax infection' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84565
http://purl.obolibrary.org/obo/GARD_0004280
http://purl.obolibrary.org/obo/GARD_0004280 EquivalentTo 'lipodystrophy due to peptidic growth factors deficiency'
http://purl.obolibrary.org/obo/NCIT_C84568
'hyperargininemia' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84568
http://purl.obolibrary.org/obo/NCIT_C84552
'amniotic band syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84552
http://purl.obolibrary.org/obo/GARD_0004299
http://purl.obolibrary.org/obo/GARD_0004299 EquivalentTo 'autosomal recessive distal osteolysis syndrome'
http://purl.obolibrary.org/obo/NCIT_C84550
'amaurosis fugax' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84550
http://purl.obolibrary.org/obo/NCIT_C84555
'hereditary amyloidosis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84555
http://purl.obolibrary.org/obo/GARD_0004291
http://purl.obolibrary.org/obo/GARD_0004291 EquivalentTo 'alopecia-intellectual disability syndrome 2'
http://purl.obolibrary.org/obo/NCIT_C84543
'albinism' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84543
http://purl.obolibrary.org/obo/SCTID_109333005
'osteoradionecrosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_109333005
http://purl.obolibrary.org/obo/NCIT_C133730
'autosomal recessive limb-girdle muscular dystrophy type 2K' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C133730
http://purl.obolibrary.org/obo/GARD_0004253
http://purl.obolibrary.org/obo/GARD_0004253 EquivalentTo 'Clouston syndrome'
http://purl.obolibrary.org/obo/GARD_0004259
http://purl.obolibrary.org/obo/GARD_0004259 EquivalentTo 'pseudoleprechaunism syndrome, Patterson type'
http://purl.obolibrary.org/obo/MESH_D003384
http://purl.obolibrary.org/obo/MESH_D003384 EquivalentTo 'coxsackievirus infectious disease'
http://purl.obolibrary.org/obo/GARD_0004269
http://purl.obolibrary.org/obo/GARD_0004269 EquivalentTo 'pelvic dysplasia-arthrogryposis of lower limbs syndrome'
http://purl.obolibrary.org/obo/GARD_0004262
http://purl.obolibrary.org/obo/GARD_0004262 EquivalentTo 'Pavone Fiumara Rizzo syndrome'
http://purl.obolibrary.org/obo/GARD_0004261
http://purl.obolibrary.org/obo/GARD_0004261 EquivalentTo 'oligoarticular juvenile idiopathic arthritis'
http://purl.obolibrary.org/obo/GARD_0004278
http://purl.obolibrary.org/obo/GARD_0004278 EquivalentTo 'phosphoenolpyruvate carboxykinase deficiency, cytosolic'
http://purl.obolibrary.org/obo/NCIT_C84574
'atrophic muscular disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84574
http://purl.obolibrary.org/obo/GARD_0004279
http://purl.obolibrary.org/obo/GARD_0004279 EquivalentTo 'phosphoenolpyruvate carboxykinase deficiency, mitochondrial'
http://purl.obolibrary.org/obo/SCTID_237945003
'vitamin B12-unresponsive methylmalonic acidemia type mut0' EquivalentTo http://purl.obolibrary.org/obo/SCTID_237945003
http://purl.obolibrary.org/obo/GARD_0004273
http://purl.obolibrary.org/obo/GARD_0004273 EquivalentTo 'penoscrotal transposition (disease)'
http://purl.obolibrary.org/obo/GARD_0004276
http://purl.obolibrary.org/obo/GARD_0004276 EquivalentTo 'acroosteolysis-keloid-like lesions-premature aging syndrome'
http://purl.obolibrary.org/obo/NCIT_C84575
'auditory perceptual disorders' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84575
http://purl.obolibrary.org/obo/GARD_0004270
http://purl.obolibrary.org/obo/GARD_0004270 EquivalentTo 'pemphigus vulgaris'
http://purl.obolibrary.org/obo/GARD_0004272
http://purl.obolibrary.org/obo/GARD_0004272 EquivalentTo 'penile agenesis'
http://purl.obolibrary.org/obo/GARD_0004271
http://purl.obolibrary.org/obo/GARD_0004271 EquivalentTo 'Pendred syndrome'
http://purl.obolibrary.org/obo/NCIT_C35548
'monoclonal gammopathy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35548
http://purl.obolibrary.org/obo/NCIT_C35542
'traumatic encephalopathy' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35542
http://purl.obolibrary.org/obo/NCIT_C84523
'3-hydroxy-3-methylglutaric aciduria' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84523
http://linkedlifedata.com/resource/umls/id/C2931030
http://linkedlifedata.com/resource/umls/id/C2931030 EquivalentTo 'pseudoachondroplastic dysplasia 2'
http://purl.obolibrary.org/obo/SCTID_18241005
'urethral obstruction sequence' EquivalentTo http://purl.obolibrary.org/obo/SCTID_18241005
http://purl.obolibrary.org/obo/SCTID_82699004
'Dyggve-Melchior-Clausen disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_82699004
http://purl.obolibrary.org/obo/SCTID_52089001
'arteritis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_52089001
http://purl.obolibrary.org/obo/MONDO_0040871
psychogenic polydipsia
'psychogenic polydipsia' DisjointWith 'non-psychogenic polydipsia'
'psychogenic polydipsia' SubClassOf 'primary polydipsia'
'psychogenic polydipsia' EquivalentTo 'primary polydipsia' and ('disease arises from feature' some 'mental disorder')
'psychogenic polydipsia' SubClassOf 'disease arises from feature' some 'mental disorder'
'psychogenic polydipsia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_15945005
http://purl.obolibrary.org/obo/MONDO_0040870
primary polydipsia
'primary polydipsia' SubClassOf 'impulse control disorder'
'primary polydipsia' SubClassOf 'disease HAS feature' some http://purl.obolibrary.org/obo/HP_0001959
http://purl.obolibrary.org/obo/MONDO_0040872
non-psychogenic polydipsia
'psychogenic polydipsia' DisjointWith 'non-psychogenic polydipsia'
'non-psychogenic polydipsia' SubClassOf 'primary polydipsia'
http://purl.obolibrary.org/obo/GARD_0004203
http://purl.obolibrary.org/obo/GARD_0004203 EquivalentTo 'pancreas, dorsal, agenesis of'
http://purl.obolibrary.org/obo/SCTID_24069003
'Nairobi sheep disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_24069003
http://purl.obolibrary.org/obo/GARD_0004208
http://purl.obolibrary.org/obo/GARD_0004208 EquivalentTo 'pancreatic lipomatosis duodenal stenosis'
http://purl.obolibrary.org/obo/SCTID_715414009
'familial pancreatic carcinoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_715414009
http://purl.obolibrary.org/obo/GARD_0004204
http://purl.obolibrary.org/obo/GARD_0004204 EquivalentTo 'adenoma of pancreas'
http://purl.obolibrary.org/obo/GARD_0004206
http://purl.obolibrary.org/obo/GARD_0004206 EquivalentTo 'familial pancreatic carcinoma'
http://purl.obolibrary.org/obo/GARD_0004214
http://purl.obolibrary.org/obo/GARD_0004214 EquivalentTo 'choroid plexus papilloma'
http://purl.obolibrary.org/obo/GARD_0004213
http://purl.obolibrary.org/obo/GARD_0004213 EquivalentTo 'panostotic fibrous dysplasia'
http://purl.obolibrary.org/obo/GARD_0004219
http://purl.obolibrary.org/obo/GARD_0004219 EquivalentTo 'hereditary spastic paraplegia 17'
http://purl.obolibrary.org/obo/GARD_0004215
http://purl.obolibrary.org/obo/GARD_0004215 EquivalentTo 'parainfluenza virus type 3 infectious disease'
http://purl.obolibrary.org/obo/GARD_0004218
http://purl.obolibrary.org/obo/GARD_0004218 EquivalentTo 'omphalocele, autosomal'
http://purl.obolibrary.org/obo/GARD_0004227
http://purl.obolibrary.org/obo/GARD_0004227 EquivalentTo 'idiopathic ventricular fibrillation, non Brugada type'
http://purl.obolibrary.org/obo/GARD_0004228
http://purl.obolibrary.org/obo/GARD_0004228 EquivalentTo 'brachial plexus neuritis'
http://purl.obolibrary.org/obo/GARD_0004236
http://purl.obolibrary.org/obo/GARD_0004236 EquivalentTo 'fetal parvovirus syndrome'
http://purl.obolibrary.org/obo/GARD_0004235
http://purl.obolibrary.org/obo/GARD_0004235 EquivalentTo 'Partington syndrome'
http://purl.obolibrary.org/obo/GARD_0004230
http://purl.obolibrary.org/obo/GARD_0004230 EquivalentTo 'partial chromosome Y deletion'
http://purl.obolibrary.org/obo/SCTID_716281000
'progressive non-fluent aphasia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_716281000
http://purl.obolibrary.org/obo/GARD_0004168
http://purl.obolibrary.org/obo/GARD_0004168 EquivalentTo 'Otodental syndrome'
http://purl.obolibrary.org/obo/GARD_0004169
http://purl.obolibrary.org/obo/GARD_0004169 EquivalentTo 'otofaciocervical syndrome'
http://purl.obolibrary.org/obo/NCIT_C84687
'cephalocele (disease)' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84687
http://purl.obolibrary.org/obo/GARD_0004166
http://purl.obolibrary.org/obo/GARD_0004166 EquivalentTo 'heart defect-tongue hamartoma-polysyndactyly syndrome'
http://purl.obolibrary.org/obo/GARD_0004174
http://purl.obolibrary.org/obo/GARD_0004174 EquivalentTo 'familial osteosclerosis'
http://purl.obolibrary.org/obo/GARD_0004176
http://purl.obolibrary.org/obo/GARD_0004176 EquivalentTo 'benign paroxysmal tonic upgaze of childhood with ataxia'
http://purl.obolibrary.org/obo/GARD_0004183
http://purl.obolibrary.org/obo/GARD_0004183 EquivalentTo 'overhydrated hereditary stomatocytosis'
http://purl.obolibrary.org/obo/GARD_0004199
http://purl.obolibrary.org/obo/GARD_0004199 EquivalentTo 'palmer pagon syndrome'
http://purl.obolibrary.org/obo/GARD_0004192
http://purl.obolibrary.org/obo/GARD_0004192 EquivalentTo 'extramammary Paget disease'
http://purl.obolibrary.org/obo/GARD_0004195
http://purl.obolibrary.org/obo/GARD_0004195 EquivalentTo 'pagon stephan syndrome'
http://purl.obolibrary.org/obo/GARD_0004191
http://purl.obolibrary.org/obo/GARD_0004191 EquivalentTo 'Paget disease of bone 3'
http://purl.obolibrary.org/obo/GARD_0004116
http://purl.obolibrary.org/obo/GARD_0004116 EquivalentTo 'oromandibular-limb hypogenesis syndrome'
http://purl.obolibrary.org/obo/GARD_0004119
http://purl.obolibrary.org/obo/GARD_0004119 EquivalentTo 'syndromic X-linked intellectual disability Shashi type'
http://purl.obolibrary.org/obo/GARD_0004121
http://purl.obolibrary.org/obo/GARD_0004121 EquivalentTo 'orofaciodigital syndrome I'
http://purl.obolibrary.org/obo/GARD_0004129
http://purl.obolibrary.org/obo/GARD_0004129 EquivalentTo 'OSLAM syndrome'
http://purl.obolibrary.org/obo/GARD_0004131
http://purl.obolibrary.org/obo/GARD_0004131 EquivalentTo 'Thiemann disease, familial form'
http://purl.obolibrary.org/obo/GARD_0004130
http://purl.obolibrary.org/obo/GARD_0004130 EquivalentTo 'otospondylomegaepiphyseal dysplasia'
http://purl.obolibrary.org/obo/GARD_0004133
http://purl.obolibrary.org/obo/GARD_0004133 EquivalentTo 'osteochondritis dissecans (disease)'
http://purl.obolibrary.org/obo/GARD_0004148
http://purl.obolibrary.org/obo/GARD_0004148 EquivalentTo 'osteopathia striata with cranial sclerosis'
http://purl.obolibrary.org/obo/GARD_0004142
http://purl.obolibrary.org/obo/GARD_0004142 EquivalentTo 'osteoglophonic dwarfism'
http://purl.obolibrary.org/obo/GARD_0004144
http://purl.obolibrary.org/obo/GARD_0004144 EquivalentTo 'autosomal recessive distal osteolysis syndrome'
http://purl.obolibrary.org/obo/SCTID_444408007
'tubular adenoma' EquivalentTo http://purl.obolibrary.org/obo/SCTID_444408007
http://purl.obolibrary.org/obo/GARD_0004158
http://purl.obolibrary.org/obo/GARD_0004158 EquivalentTo 'osteopoikilosis (disease)'
http://purl.obolibrary.org/obo/GARD_0004155
http://purl.obolibrary.org/obo/GARD_0004155 EquivalentTo 'osteopetrosis (disease)'
http://purl.obolibrary.org/obo/NCIT_C84697
'cutaneous porphyria' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84697
http://purl.obolibrary.org/obo/GARD_0004151
http://purl.obolibrary.org/obo/GARD_0004151 EquivalentTo 'autosomal dominant osteopetrosis 1'
http://purl.obolibrary.org/obo/NCIT_C35664
'ocular vascular disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35664
http://purl.obolibrary.org/obo/MESH_D013009
http://purl.obolibrary.org/obo/MESH_D013009 EquivalentTo 'PSMNSW'
http://purl.obolibrary.org/obo/MESH_D027601
http://purl.obolibrary.org/obo/MESH_D027601 EquivalentTo 'Polyomavirus infectious disease'
http://purl.obolibrary.org/obo/NCIT_C60672
'multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C60672
http://purl.obolibrary.org/obo/MESH_D003639
http://purl.obolibrary.org/obo/MESH_D003639 EquivalentTo 'sudden sensorineural hearing loss'
http://purl.obolibrary.org/obo/MESH_C562978
http://purl.obolibrary.org/obo/MESH_C562978 EquivalentTo 'myofibromatosis, infantile, 1'
http://purl.obolibrary.org/obo/MONDO_0040923
late latent syphilis
'late latent syphilis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_186903006
'late latent syphilis' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C128371
'late latent syphilis' SubClassOf 'latent syphilis'
'late latent syphilis' SubClassOf 'tertiary syphilis'
http://purl.obolibrary.org/obo/MONDO_0040922
latent early syphilis
'latent early syphilis' SubClassOf 'latent syphilis'
'latent early syphilis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_186867005
http://purl.obolibrary.org/obo/MONDO_0040925
latent yaws
'latent yaws' SubClassOf 'yaws'
'latent yaws' EquivalentTo http://purl.obolibrary.org/obo/SCTID_186973005
http://purl.obolibrary.org/obo/SCTID_419503008
'hyperhomocysteinemia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_419503008
http://purl.obolibrary.org/obo/NCIT_C84615
'congenital disorder of glycosylation' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84615
http://purl.obolibrary.org/obo/SCTID_49607006
'nutritional biotin deficiency' EquivalentTo http://purl.obolibrary.org/obo/SCTID_49607006
http://purl.obolibrary.org/obo/NCIT_C84618
'narcolepsy 1' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84618
http://purl.obolibrary.org/obo/MONDO_0040753
inactive tuberculosis
'inactive tuberculosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_11999007
'inactive tuberculosis' SubClassOf 'tuberculosis'
http://purl.obolibrary.org/obo/MESH_D055985 EquivalentTo 'inactive tuberculosis'
http://purl.obolibrary.org/obo/NCIT_C35729
'congenital anomaly of cardiovascular system' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35729
http://purl.obolibrary.org/obo/NCIT_C35723
'nasopharyngeal disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C35723
http://purl.obolibrary.org/obo/MONDO_0040728
Campylobacter fetus infectious disease
'Campylobacter fetus infectious disease' SubClassOf 'realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_196
'Campylobacter fetus infectious disease' EquivalentTo 'infectious disease' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_196)
'Campylobacter fetus infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_111835002
'Campylobacter fetus infectious disease' SubClassOf 'campylobacteriosis'
http://purl.obolibrary.org/obo/MONDO_0040732
Pseudomonas aeruginosa infectious disease
'Pseudomonas aeruginosa infectious disease' EquivalentTo 'infectious disease' and ('realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_287)
'Pseudomonas aeruginosa infectious disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_11218009
'Pseudomonas aeruginosa infectious disease' SubClassOf 'Pseudomonas infection'
'Pseudomonas aeruginosa infectious disease' SubClassOf 'realized in response to stimulus' some http://purl.obolibrary.org/obo/NCBITaxon_287
http://purl.obolibrary.org/obo/MONDO_0040797
obsolete vascular headache
http://purl.obolibrary.org/obo/MESH_D014653 EquivalentTo 'obsolete vascular headache'
'obsolete vascular headache' EquivalentTo http://purl.obolibrary.org/obo/SCTID_128187005
http://purl.obolibrary.org/obo/SCTID_17653001
'skeletal tuberculosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_17653001
http://purl.obolibrary.org/obo/SCTID_239869009
'osteoarthritis susceptibility 2' EquivalentTo http://purl.obolibrary.org/obo/SCTID_239869009
http://purl.obolibrary.org/obo/GARD_0004039
http://purl.obolibrary.org/obo/GARD_0004039 EquivalentTo 'oculocutaneous albinism type 3'
http://purl.obolibrary.org/obo/GARD_0004046
http://purl.obolibrary.org/obo/GARD_0004046 EquivalentTo 'oculomaxillofacial dysostosis'
http://purl.obolibrary.org/obo/GARD_0004045
http://purl.obolibrary.org/obo/GARD_0004045 EquivalentTo 'oculodentodigital dysplasia, autosomal recessive'
http://purl.obolibrary.org/obo/GARD_0004054
http://purl.obolibrary.org/obo/GARD_0004054 EquivalentTo 'odonto-onycho-dermal dysplasia'
http://purl.obolibrary.org/obo/GARD_0004051
http://purl.obolibrary.org/obo/GARD_0004051 EquivalentTo 'odonto-onycho dysplasia-alopecia syndrome'
http://purl.obolibrary.org/obo/GARD_0004066
http://purl.obolibrary.org/obo/GARD_0004066 EquivalentTo 'oligomeganephronia'
http://purl.obolibrary.org/obo/GARD_0004060
http://purl.obolibrary.org/obo/GARD_0004060 EquivalentTo 'orofaciodigital syndrome VIII'
http://purl.obolibrary.org/obo/GARD_0004062
http://purl.obolibrary.org/obo/GARD_0004062 EquivalentTo 'infantile onset spinocerebellar ataxia'
http://purl.obolibrary.org/obo/NCIT_C84771
'familial lipoprotein lipase deficiency' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84771
http://purl.obolibrary.org/obo/GARD_0004076
http://purl.obolibrary.org/obo/GARD_0004076 EquivalentTo 'autosomal recessive omodysplasia'
http://purl.obolibrary.org/obo/GARD_0004075
http://purl.obolibrary.org/obo/GARD_0004075 EquivalentTo 'mutilating palmoplantar keratoderma with periorificial keratotic plaques'
http://purl.obolibrary.org/obo/GARD_0004072
http://purl.obolibrary.org/obo/GARD_0004072 EquivalentTo 'spinocerebellar ataxia type 2'
http://purl.obolibrary.org/obo/GARD_0004071
http://purl.obolibrary.org/obo/GARD_0004071 EquivalentTo 'spinocerebellar ataxia type 1'
http://purl.obolibrary.org/obo/GARD_0004070
http://purl.obolibrary.org/obo/GARD_0004070 EquivalentTo 'olivopontocerebellar atrophy-deafness syndrome'
http://purl.obolibrary.org/obo/GARD_0004009
http://purl.obolibrary.org/obo/GARD_0004009 EquivalentTo 'normokalemic periodic paralysis'
http://purl.obolibrary.org/obo/GARD_0004015
http://purl.obolibrary.org/obo/GARD_0004015 EquivalentTo 'cleft larynx, posterior'
http://purl.obolibrary.org/obo/GARD_0004011
http://purl.obolibrary.org/obo/GARD_0004011 EquivalentTo 'Norum disease'
http://purl.obolibrary.org/obo/GARD_0004018
http://purl.obolibrary.org/obo/GARD_0004018 EquivalentTo 'primary tethered cord syndrome'
http://purl.obolibrary.org/obo/GARD_0004017
http://purl.obolibrary.org/obo/GARD_0004017 EquivalentTo 'occipital horn syndrome'
http://purl.obolibrary.org/obo/GARD_0004037
http://purl.obolibrary.org/obo/GARD_0004037 EquivalentTo 'oculocutaneous albinism type 1'
http://purl.obolibrary.org/obo/GARD_0004034
http://purl.obolibrary.org/obo/GARD_0004034 EquivalentTo 'oculocerebral hypopigmentation syndrome of Preus'
http://purl.obolibrary.org/obo/MESH_D003555
http://purl.obolibrary.org/obo/MESH_D003555 EquivalentTo 'cystinuria (disease)'
http://purl.obolibrary.org/obo/NCIT_C6438
'mediastinum teratoma' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C6438
http://purl.obolibrary.org/obo/SCTID_715438008
'Jacobsen syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_715438008
http://purl.obolibrary.org/obo/GARD_0004083
http://purl.obolibrary.org/obo/GARD_0004083 EquivalentTo 'Cooks syndrome'
http://purl.obolibrary.org/obo/GARD_0004085
http://purl.obolibrary.org/obo/GARD_0004085 EquivalentTo 'poikiloderma with neutropenia'
http://purl.obolibrary.org/obo/SCTID_91051003
'disseminated sporotrichosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_91051003
http://purl.obolibrary.org/obo/GARD_0004080
http://purl.obolibrary.org/obo/GARD_0004080 EquivalentTo 'cloacal exstrophy (disease)'
http://purl.obolibrary.org/obo/NCIT_C84735
'Danon disease' EquivalentTo http://purl.obolibrary.org/obo/NCIT_C84735
http://purl.obolibrary.org/obo/SCTID_34020007
'streptococcal pneumonia' EquivalentTo http://purl.obolibrary.org/obo/SCTID_34020007
http://purl.obolibrary.org/obo/SCTID_36010004
'cranial meningocele' EquivalentTo http://purl.obolibrary.org/obo/SCTID_36010004
http://purl.obolibrary.org/obo/SCTID_124470009
'mucopolysaccharidosis type 7' EquivalentTo http://purl.obolibrary.org/obo/SCTID_124470009
http://purl.obolibrary.org/obo/MESH_D000031
http://purl.obolibrary.org/obo/MESH_D000031 EquivalentTo 'septic abortion'
http://purl.obolibrary.org/obo/SCTID_27873005
'Machado-Joseph disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_27873005
http://purl.obolibrary.org/obo/SCTID_95437004
'adult respiratory distress syndrome' EquivalentTo http://purl.obolibrary.org/obo/SCTID_95437004
http://purl.obolibrary.org/obo/SCTID_233763009
'silicosis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_233763009
http://purl.obolibrary.org/obo/SCTID_46956008
'vasculitis' EquivalentTo http://purl.obolibrary.org/obo/SCTID_46956008
http://purl.obolibrary.org/obo/NCBITaxon_11552
http://purl.obolibrary.org/obo/HP_0002564
http://purl.obolibrary.org/obo/OMIM_205000
'obsolete amyotonia congenita' EquivalentTo http://purl.obolibrary.org/obo/OMIM_205000
http://purl.obolibrary.org/obo/SCTID_238074007
'Wolman disease' EquivalentTo http://purl.obolibrary.org/obo/SCTID_238074007
http://purl.obolibrary.org/obo/NCBITaxon_197
http://www.ebi.ac.uk/efo/EFO_1001177
'septic abortion' EquivalentTo http://www.ebi.ac.uk/efo/EFO_1001177