Summary Literature (0)

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,

Echinobase Genes : dcaf17


OMIM:

MIM:241080 - woodhouse-sakati syndrome

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee