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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
 alt_id: RDO:0002813
For additional species annotation, visit the Alliance of Genome Resources.


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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: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 chr36:15,906,013...15,961,318
Ensembl chr36:15,905,085...15,938,910
JBrowse link
G METTL8 methyltransferase like 8 ISO ClinVar Annotator: match by term: Progressive extrapyramidal disorder with primary hypogonadism and alopecia ClinVar PMID:17710875 PMID:19026396 PMID:26612766 PMID:28492532 NCBI chr36:15,816,518...15,906,019
Ensembl chr36:15,819,138...15,905,064
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12725
    Pathological Conditions, Signs and Symptoms 7646
      Anatomical Pathological Conditions 1362
        alopecia 91
          Alopecia, Hypogonadism, Extrapyramidal Disorder 2
Path 2
Term Annotations click to browse term
  disease 12725
    disease of anatomical entity 12264
      nervous system disease 10017
        sensory system disease 4841
          skin disease 2534
            hair disease 257
              hypotrichosis 123
                alopecia 91
                  Alopecia, Hypogonadism, Extrapyramidal Disorder 2
paths to the root