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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:9007524 term browser browse the term
Definition:WDSKS is caused by homozygous mutation in the C2ORF37 gene (DCAF17) on chromosome 2q31. (OMIM)
Synonyms:exact_synonym: HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION, DEAFNESS, AND EXTRAPYRAMIDAL SYNDROME;   Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome;   WDSKS;   progressive extrapyramidal disorder with primary hypogonadism, mental retardation, and alopecia
 primary_id: MESH:C536742
 alt_id: OMIM:241080;   RDO:0002413
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:17710875, PMID:18049083, PMID:18175354, PMID:18414213, PMID:19026396, PMID:20507343, PMID:21044051, PMID:24015686, PMID:24088041, PMID:25326637, PMID:25741868, PMID:26612766, PMID:26633545, PMID:26664771, PMID:28492532, PMID:29546359 NCBI chr 3:57,646,799...57,678,802
Ensembl chr 3:57,646,811...57,673,418
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:26612766, PMID:28492532 NCBI chr 3:57,257,394...57,642,096 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      Woodhouse-Sakati Syndrome 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            disease of mental health 6047
              developmental disorder of mental health 3163
                specific developmental disorder 2343
                  intellectual disability 2166
                    Woodhouse-Sakati Syndrome 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.