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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:Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome
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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:25910211, PMID:28492532 NCBI chr 1:256,806,476...256,813,678
Ensembl chr 1:256,806,472...256,813,711
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          neurodegenerative disease 3191
            eye degenerative disease 468
              retinal degeneration 466
                fundus dystrophy 333
                  Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 1
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.