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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:choroidal sclerosis
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Accession:DOID:980 term browser browse the term
Synonyms:exact_synonym: CACD;   CACD1;   central areolar choroidal dystrophy;   central areolar choroidal dystrophy 1;   central areolar choroidal sclerosis;   choroidal degenerations
 xref: ICD10CM:H31.10;   ICD9CM:363.4;   MESH:C535358;   MIM:215500;   MIM:PS215500;   MONDO:0004885


show annotations for term's descendants           Sort by:
choroidal sclerosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gucy2e guanylate cyclase 2E ISO ClinVar Annotator: match by term: Choroidal dystrophy, central areolar, 1
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3636964 PMID:8554074 PMID:8733141 PMID:8944027 PMID:9536098 More... NCBI chr10:54,453,753...54,478,639
Ensembl chr10:54,457,844...54,472,898 		JBrowse link
G Prph2 peripherin 2 ISO DNA:polymorphism:cds:p.R142W(human)
DNA:missense mutation:cds:p.R195L(human)
ClinVar Annotator: match by term: Central areolar choroidal dystrophy 		ClinVar
RGD		 PMID:25741868 PMID:8644804 PMID:16832026 RGD:8553207, RGD:8554858 NCBI chr 9:21,563,770...21,579,074
Ensembl chr 9:21,563,777...21,579,074 		JBrowse link
G Ttll5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Central areolar choroidal dystrophy ClinVar PMID:25741868 NCBI chr 6:111,214,048...111,431,892
Ensembl chr 6:111,214,103...111,431,891 		JBrowse link
Central Areolar Choroidal Dystrophy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Choroidal dystrophy, central areolar 2 | ClinVar Annotator: match by term: MACULAR DYSTROPHY, PROGRESSIVE
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:279751 PMID:3441139 PMID:7493155 PMID:7825692 PMID:7880786 More... NCBI chr 9:21,563,770...21,579,074
Ensembl chr 9:21,563,777...21,579,074 		JBrowse link
partial central choroid dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prph2 peripherin 2 ISS OMIM:613105 MouseDO NCBI chr 9:21,563,770...21,579,074
Ensembl chr 9:21,563,777...21,579,074 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    sensory system disease 7348
      eye disease 3565
        eye degenerative disease 934
          choroidal sclerosis 3
            Senile atrophy of choroid 0
            angioid streaks of choroid 0
            diffuse secondary choroid atrophy 0
            hereditary choroidal atrophy + 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        Neurologic Manifestations 10446
          sensory system disease 7348
            eye disease 3565
              uveal disease 247
                choroid disease 67
                  choroidal sclerosis 3
                    Senile atrophy of choroid 0
                    angioid streaks of choroid 0
                    diffuse secondary choroid atrophy 0
                    hereditary choroidal atrophy + 1
paths to the root