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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 chr2B:58,725,392...58,776,238
Ensembl chr2B:176,184,348...176,234,825
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 chr2B:58,605,042...58,725,999
Ensembl chr2B:176,070,609...176,183,862
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12770
    Pathological Conditions, Signs and Symptoms 7583
      Anatomical Pathological Conditions 1342
        alopecia 93
          Alopecia, Hypogonadism, Extrapyramidal Disorder 2
Path 2
Term Annotations click to browse term
  disease 12770
    disease of anatomical entity 12302
      nervous system disease 10063
        sensory system disease 4826
          skin disease 2527
            hair disease 262
              hypotrichosis 126
                alopecia 93
                  Alopecia, Hypogonadism, Extrapyramidal Disorder 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.