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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, PMID:11641275, PMID:11966690, PMID:12406339, PMID:17609203, PMID:20087431, PMID:20512917, PMID:21747609, PMID:21919222, PMID:22584530, PMID:23548463, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr15:52,241,801...52,261,276
Ensembl chr15:52,241,801...52,261,276
JBrowse link
G Il4 interleukin 4 ISO protein:increased expression:serum RGD PMID:20671941 RGD:7829773 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Pathological Conditions, Signs and Symptoms 8723
      Anatomical Pathological Conditions 1524
        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 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          skin disease 2749
            hair disease 261
              hypotrichosis 126
                alopecia 92
                  alopecia universalis 2
                    Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia 0
                    Alopecia Universalis, Onychodystrophy, Vitiligo 0
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.