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Disease Ontology Browser
Woodhouse-Sakati syndrome (DOID:0112264)
Alliance: disease page
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
Alt IDs: OMIM:241080, MESH:C536742, ORDO:3464
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory