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:Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome
go back to main search page
Accession:DOID:9002470 term browser browse the term
Synonyms:exact_synonym: RDCCAS
 primary_id: OMIM:615147
 alt_id: RDO:9000495
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbp4 retinol binding protein 4 ISO ClinVar Annotator: match by OMIM:615147
ClinVar Annotator: match by term: Retinal dystrophy, iris coloboma, and comedogenic acne syndrome
OMIM
ClinVar
PMID:9888420 PMID:10232633 PMID:16157297 PMID:23189188 PMID:25741868 More... NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        central nervous system disease 10373
          neurodegenerative disease 3507
            eye degenerative disease 508
              retinal degeneration 506
                fundus dystrophy 372
                  Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 1
paths to the root