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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;   RDO:0002815
 xref: GARD:614
For additional species annotation, visit the Alliance of Genome Resources.



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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 OMIM:203655
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 chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313
JBrowse link
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 17445
    Pathological Conditions, Signs and Symptoms 10388
      Anatomical Pathological Conditions 2026
        alopecia 92
          alopecia universalis 2
            Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia 0
            Alopecia Universalis, Onychodystrophy, Vitiligo 0
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        sensory system disease 5700
          skin disease 3004
            hair disease 256
              hypotrichosis 129
                alopecia 92
                  alopecia universalis 2
                    Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia 0
                    Alopecia Universalis, Onychodystrophy, Vitiligo 0
paths to the root