Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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 17014
    Pathological Conditions, Signs and Symptoms 9933
      Anatomical Pathological Conditions 1616
        alopecia 82
          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 17014
    disease of anatomical entity 16363
      nervous system disease 11947
        sensory system disease 5443
          skin disease 2816
            hair disease 244
              hypotrichosis 119
                alopecia 82
                  alopecia universalis 2
                    Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia 0
                    Alopecia Universalis, Onychodystrophy, Vitiligo 0
paths to the root