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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:Alopecia, Hypogonadism, Extrapyramidal Disorder
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Accession:DOID:9001242 term browser browse the term
Synonyms:exact_synonym: Progressive extrapyramidal disorder with primary hypogonadism and alopecia
 primary_id: MESH:C537053


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Alopecia, Hypogonadism, Extrapyramidal Disorder 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: Progressive extrapyramidal disorder with primary hypogonadism and alopecia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:55,863,776...55,895,601
Ensembl chr 3:55,863,799...55,891,820 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Anatomical Pathological Conditions 2665
        alopecia 94
          Alopecia, Hypogonadism, Extrapyramidal Disorder 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Neurologic Manifestations 10055
          sensory system disease 6961
            skin disease 3968
              hair disease 328
                hypotrichosis 148
                  alopecia 94
                    Alopecia, Hypogonadism, Extrapyramidal Disorder 1
paths to the root