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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Woodhouse-Sakati syndrome
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Accession:DOID:0112264 term browser browse the term
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 DCAF17 on chromosome 2q31.1. (DO)
Synonyms:exact_synonym: Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome;   WDSKS;   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;   progressive extrapyramidal disorder with primary hypogonadism, mental retardation, and alopecia
 primary_id: MESH:C536742
 alt_id: DOID:9007524;   OMIM:241080
 xref: GARD:5592;   ORDO:3464
For additional species annotation, visit the Alliance of Genome Resources.



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Woodhouse-Sakati syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcaf17 DDB1 and CUL4 associated factor 17 ISO ClinVar Annotator: match by term: Woodhouse-Sakati syndrome OMIM
ClinVar
PMID:6876115 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17710875 More... NCBI chr 3:55,863,776...55,895,601
Ensembl chr 3:55,863,799...55,891,820
JBrowse link
G Mettl8 methyltransferase 8, methylcytidine ISO ClinVar Annotator: match by term: Woodhouse-Sakati syndrome ClinVar PMID:9536098 PMID:17576681 PMID:17710875 PMID:19026396 PMID:20507343 More... NCBI chr 3:55,731,453...55,863,652
Ensembl chr 3:55,770,167...55,863,676
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    syndrome 9802
      Woodhouse-Sakati syndrome 2
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        central nervous system disease 11414
          brain disease 10710
            disease of mental health 7594
              developmental disorder of mental health 4927
                specific developmental disorder 4191
                  intellectual disability 3995
                    Woodhouse-Sakati syndrome 2
paths to the root