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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
ISS		 ClinVar Annotator: match by term: ATRICHIA, GENERALIZED | ClinVar Annotator: match by term: Alopecia universalis | ClinVar Annotator: match by term: Alopecia universalis congenita
CTD Direct Evidence: marker/mechanism
OMIM:203655		 OMIM
ClinVar
CTD
MouseDO		 PMID:8790387 PMID:9445480 PMID:9736769 PMID:9758627 PMID:11410842 More... NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313 		JBrowse link
G Hrurf HR upstream open reading frame ISO ClinVar Annotator: match by term: Alopecia universalis congenita ClinVar
G Il4 interleukin 4 ISO protein:increased expression:serum RGD PMID:20671941 RGD:7829773 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Anatomical Pathological Conditions 2657
        alopecia 94
          alopecia universalis 3
            Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia 0
            Alopecia Universalis, Onychodystrophy, Vitiligo 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              hair disease 328
                hypotrichosis 148
                  alopecia 94
                    alopecia universalis 3
                      Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia 0
                      Alopecia Universalis, Onychodystrophy, Vitiligo 0
paths to the root