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DO Term : Woodhouse-Sakati syndrome [DOID:0112264] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • GARD:5592,
  • progressive extrapyramidal disorder with primary hypogonadism, mental retardation, alopecia,
  • hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome,
  • diabetes-hypogonadism-deafness-intellectual disability syndrome,
  • OMIM:241080,
  • 241080,
  • diabetes-hypogonadism-hearing loss-intellectual disability syndrome,
  • ORDO:3464,
  • MESH:C536742
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Ontology Term --> Direct children

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