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DOID:0112264 - Woodhouse-Sakati syndrome
Disease Ontology Definition:A syndrome characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the DCAF17 gene on chromosome 2q31.1.
Synonyms: diabetes-hypogonadism-deafness-intellectual disability syndrome, diabetes-hypogonadism-hearing loss-intellectual disability syndrome, hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome, progressive extrapyramidal disorder with primary hypogonadism, mental retardation, alopecia,
Xenbase Genes
:
dcaf17
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)