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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, DEAFNESS, AND EXTRAPYRAMIDAL SYNDROME;   Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome;   WDSKS;   diabetes-hypogonadism-deafness-intellectual disability syndrome;   diabetes-hypogonadism-hearing loss-intellectual disability 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 OMIM:241080
ClinVar Annotator: match by term: Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome
ClinVar Annotator: match by term: Woodhouse-Sakati syndrome
OMIM
ClinVar
PMID:6876115 PMID:16199547 PMID:17710875 PMID:18049083 PMID:18175354 More... NCBI chr 3:55,863,776...55,895,601
Ensembl chr 3:55,863,799...55,891,820
JBrowse link
G Mettl8 methyltransferase like 8 ISO ClinVar Annotator: match by term: Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome
ClinVar Annotator: match by term: Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome
ClinVar PMID:17710875 PMID:19026396 PMID:25741868 PMID:26612766 PMID:28492532 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 17445
    syndrome 8267
      Woodhouse-Sakati syndrome 2
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        central nervous system disease 10506
          brain disease 9870
            disease of mental health 7143
              developmental disorder of mental health 4462
                specific developmental disorder 3707
                  intellectual disability 3518
                    Woodhouse-Sakati syndrome 2
paths to the root