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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


show annotations for term's descendants           Sort by:
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:6876115 PMID:19026396 PMID:20507343 PMID:21964978 PMID:24015686 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: Progressive extrapyramidal disorder with primary hypogonadism and alopecia ClinVar 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 19139
    Pathological Conditions, Signs and Symptoms 13625
      Anatomical Pathological Conditions 2868
        alopecia 95
          Alopecia, Hypogonadism, Extrapyramidal Disorder 2
Path 2
Term Annotations click to browse term
  disease 19139
    Pathological Conditions, Signs and Symptoms 13625
      Signs and Symptoms 11221
        Neurologic Manifestations 10463
          sensory system disease 7383
            skin disease 4322
              hair disease 331
                hypotrichosis 150
                  alopecia 95
                    Alopecia, Hypogonadism, Extrapyramidal Disorder 2
paths to the root