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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 the DCAF17 gene on chromosome 2q31.1. (DO)
Synonyms:exact_synonym: WDSKS;   diabetes-hypogonadism-deafness-intellectual disability syndrome;   diabetes-hypogonadism-hearing loss-intellectual disability syndrome;   hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal 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



show annotations for term's descendants           Sort by:
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Woodhouse-Sakati syndrome
OMIM
CTD
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, tRNA N3-cytidine ISO ClinVar Annotator: match by term: Woodhouse-Sakati syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:17710875 PMID:19026396 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 21128
    syndrome 10832
      Woodhouse-Sakati syndrome 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            disease of mental health 8301
              developmental disorder of mental health 5543
                specific developmental disorder 4505
                  intellectual disability 4290
                    Woodhouse-Sakati syndrome 2
paths to the root