loading...| Preferred Name |
Woodhouse-Sakati syndrome |
| Synonyms |
hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome progressive extrapyramidal disorder with primary hypogonadism, mental retardation, alopecia diabetes-hypogonadism-hearing loss-intellectual disability syndrome diabetes-hypogonadism-deafness-intellectual disability syndrome |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0112264 |
| database_cross_reference |
OMIM:241080 GARD:5592 ORDO:3464 MESH:C536742 |
| 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. |
| has exact synonym |
hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome progressive extrapyramidal disorder with primary hypogonadism, mental retardation, alopecia diabetes-hypogonadism-hearing loss-intellectual disability syndrome diabetes-hypogonadism-deafness-intellectual disability syndrome |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0112264 |
| in_subset | |
| label |
Woodhouse-Sakati syndrome |
| notation |
DOID:0112264 |
| prefLabel |
Woodhouse-Sakati syndrome |
| subClassOf |