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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

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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 chrNW_004936601:1,413,236...1,434,036
Ensembl chrNW_004936601:1,413,208...1,433,455 		JBrowse link
G Rbp4 retinol binding protein 4 ISO 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 chrNW_004936601:1,401,215...1,410,195
Ensembl chrNW_004936601:1,402,691...1,410,208 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9491
      Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 2
Path 2
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11287
      Signs and Symptoms 9356
        Neurologic Manifestations 9046
          sensory system disease 6281
            eye disease 3213
              eye degenerative disease 783
                retinal degeneration 782
                  fundus dystrophy 662
                    Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 2
paths to the root