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:hypotrichosis and recurrent skin vesicles
go back to main search page
Accession:DOID:9000225 term browser browse the term
Synonyms:primary_id: MESH:C567751
 alt_id: OMIM:613102
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
hypotrichosis and recurrent skin vesicles term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsc3 desmocollin 3 ISO ClinVar Annotator: match by OMIM:613102
ClinVar Annotator: match by term: Hypotrichosis and recurrent skin vesicles
ClinVar
OMIM
PMID:19765682 PMID:31790667 NCBI chr18:11,379,759...11,413,797 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17160
    Pathological Conditions, Signs and Symptoms 10225
      Anatomical Pathological Conditions 1996
        Blister 8
          hypotrichosis and recurrent skin vesicles 1
Path 2
Term Annotations click to browse term
  disease 17160
    disease of anatomical entity 16500
      nervous system disease 12095
        sensory system disease 5603
          skin disease 2950
            dermatitis 422
              bullous skin disease 118
                vesiculobullous skin disease 105
                  Blister 8
                    hypotrichosis and recurrent skin vesicles 1
paths to the root