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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
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Woodhouse-Sakati Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcaf17 DDB1 and CUL4 associated factor 17 JBrowse link 3 57,646,799 57,678,802 RGD:7240710
G Mettl8 methyltransferase like 8 JBrowse link 3 57,257,394 57,642,096 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    syndrome 5218
      Woodhouse-Sakati Syndrome 2
Path 2
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  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        central nervous system disease 8118
          brain disease 7587
            disease of mental health 5531
              developmental disorder of mental health 2718
                specific developmental disorder 1890
                  intellectual disability 1712
                    Woodhouse-Sakati Syndrome 2
paths to the root


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