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It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait."],"subClassOf":["http://purl.bioontology.org/ontology/MESH/D058490","http://purl.bioontology.org/ontology/MESH/D007006","http://purl.bioontology.org/ontology/MESH/D030342"],"parents":[{"id":"http://purl.bioontology.org/ontology/MESH/D058490","synonym":["46,XY Sex Reversal 3","DSDs, 46,XY","Pseudohermaphroditisms, Male","46,XY DSDs","DSD, 46,XY","46,XY Gonadal Dysgenesis, Complete or Partial, With or Without Adrenal Failure","Male Pseudohermaphroditism","Male Pseudohermaphroditisms","46, XY Disorders of Sex Development","46, XY DSD","46,XY Sex Reversal, Partial or Complete, NR5A1-Related","Pseudohermaphroditism, Male","46,XY Disorders of Sex Development","46,XY DSD","Sex Reversal, XY, With Or Without Adrenal Failure"],"notation":"D058490","semanticType":["http://purl.bioontology.org/ontology/STY/T047","http://purl.bioontology.org/ontology/STY/T019"],"cui":["C3489793","C2751824","C0238395"],"prefLabel":"Disorder of Sex Development, 46,XY","definition":["Congenital conditions in individuals with a male karyotype, in which the development of the gonadal or anatomical sex is 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It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics. Hypogonadism can be due to a deficiency of GONADOTROPINS (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism)."],"subClassOf":["http://purl.bioontology.org/ontology/MESH/D006058"],"label":[],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"@id":"http://purl.bioontology.org/ontology/MESH/D007006","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD007006","ontology":"https://data.bioontology.org/ontologies/MESH","children":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD007006/children","parents":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD007006/parents","descendants":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD007006/descendants","ancestors":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD007006/ancestors","instances":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD007006/instances","tree":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD007006/tree","notes":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD007006/notes","mappings":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD007006/mappings","ui":"http://bioportal.bioontology.org/ontologies/MESH?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD007006","@context":{"self":"http://www.w3.org/2002/07/owl#Class","ontology":"http://data.bioontology.org/metadata/Ontology","children":"http://www.w3.org/2002/07/owl#Class","parents":"http://www.w3.org/2002/07/owl#Class","descendants":"http://www.w3.org/2002/07/owl#Class","ancestors":"http://www.w3.org/2002/07/owl#Class","instances":"http://data.bioontology.org/metadata/Instance","tree":"http://www.w3.org/2002/07/owl#Class","notes":"http://data.bioontology.org/metadata/Note","mappings":"http://data.bioontology.org/metadata/Mapping","ui":"http://www.w3.org/2002/07/owl#Class"}},"@context":{"@vocab":"http://data.bioontology.org/metadata/","label":"http://www.w3.org/2000/01/rdf-schema#label","prefLabel":"http://www.w3.org/2004/02/skos/core#prefLabel","prefLabelXl":"http://www.w3.org/2008/05/skos-xl#prefLabel","altLabelXl":"http://www.w3.org/2008/05/skos-xl#altLabel","hiddenLabelXl":"http://www.w3.org/2008/05/skos-xl#hiddenLabel","synonym":"http://www.w3.org/2004/02/skos/core#altLabel","definition":"http://www.w3.org/2004/02/skos/core#definition","obsolete":"http://www.w3.org/2002/07/owl#deprecated","notation":"http://www.w3.org/2004/02/skos/core#notation","prefixIRI":"http://data.bioontology.org/metadata/prefixIRI","subClassOf":"http://www.w3.org/2000/01/rdf-schema#subClassOf","semanticType":"http://bioportal.bioontology.org/ontologies/umls/hasSTY","cui":"http://bioportal.bioontology.org/ontologies/umls/cui","xref":"http://www.geneontology.org/formats/oboInOwl#hasDbXref","inScheme":"http://www.w3.org/2004/02/skos/core#inScheme","created":"http://purl.org/dc/terms/created","modified":"http://purl.org/dc/terms/modified","@language":[]}},{"id":"http://purl.bioontology.org/ontology/MESH/D030342","synonym":["Disorders, Genetic","Disease, Hereditary","Single-Gene Defects","Diseases, Inborn Genetic","Inborn Genetic Disease","Genetic Disorder","Disorder, Genetic","Diseases, Genetic","Genetic Disease","Single Gene Defects","Defects, Single-Gene","Diseases, Hereditary","Single-Gene Defect","Disease, Inborn Genetic","Disease, Genetic","Hereditary Diseases","Defect, Single-Gene","Genetic Disorders","Genetic Diseases","Hereditary Disease","Inborn Genetic Diseases","Genetic Disease, Inborn"],"notation":"D030342","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0950123","C0037176","C0019247"],"prefLabel":"Genetic Diseases, Inborn","definition":["Diseases caused by genetic mutations that are inherited from a parent's genome.","Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in 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Syndrome"],"http://purl.bioontology.org/ontology/MESH/DC":["1"],"http://www.w3.org/2004/02/skos/core#definition":["Type 1 is the X-linked form with mutations of gene Kal1 which encodes anosmin-1 protein that plays a key role in the migration of GNRH-containing neurons and olfactory nerves to the HYPOTHALAMUS.","Type 2 is an autosomal dominant form with loss-of-function mutations of gene Kal2 which encodes fibroblast growth-factor receptor-1 (FGFR1 PROTEIN).","A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. 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