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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


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 Ffar4 free fatty acid receptor 4 ISO ClinVar Annotator: match by term: Retinal dystrophy, iris coloboma, and comedogenic acne syndrome ClinVar PMID:9888420 PMID:10232633 PMID:16157297 PMID:25741868 PMID:25910211 More... NCBI chr 1:235,873,576...235,891,597
Ensembl chr 1:235,873,576...235,891,597 		JBrowse link
G Rbp4 retinol binding protein 4 ISO ClinVar Annotator: match by term: Retinal dystrophy, iris coloboma, and comedogenic acne syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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 21128
    syndrome 10833
      Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 2
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            eye disease 3477
              eye degenerative disease 848
                retinal degeneration 846
                  fundus dystrophy 699
                    Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 2
paths to the root