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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 universalis
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Accession:DOID:0050634 term browser browse the term
Definition:An alopecia characterized by the complete loss of hair on the scalp and body. (DO)
Synonyms:exact_synonym: ALUNC;   alopecia universalis congenita;   generalized atrichia
 primary_id: MESH:C537055
 alt_id: OMIM:203655
 xref: GARD:614

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alopecia universalis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hr HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: ATRICHIA, GENERALIZED | ClinVar Annotator: match by term: Alopecia universalis | ClinVar Annotator: match by term: Alopecia universalis congenita OMIM
ClinVar		 PMID:8790387 PMID:9445480 PMID:9736769 PMID:9758627 PMID:11410842 More... NCBI chrNW_004936555:5,936,431...5,954,852
Ensembl chrNW_004936555:5,936,220...5,954,974 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11287
      Anatomical Pathological Conditions 2335
        alopecia 79
          alopecia universalis 1
            Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia 0
            Alopecia Universalis, Onychodystrophy, Vitiligo 0
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        Neurologic Manifestations 9046
          sensory system disease 6279
            skin disease 3576
              hair disease 298
                hypotrichosis 126
                  alopecia 79
                    alopecia universalis 1
                      Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia 0
                      Alopecia Universalis, Onychodystrophy, Vitiligo 0
paths to the root