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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
 primary_id: MESH:C535358
 alt_id: OMIM:215500
 xref: ICD10CM:H31.10;   ICD9CM:363.4;   OMIM:PS215500


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 EYS eyes shut homolog ISO ClinVar Annotator: match by term: Central areolar choroidal dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32531858 NCBI chr 1:45,306,446...46,649,722 JBrowse link
G GUCY2D guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Choroidal dystrophy, central areolar, 1 OMIM
ClinVar		 PMID:8554074 PMID:8733141 PMID:8944027 PMID:9536098 PMID:9618177 More... NCBI chr12:53,200,570...53,250,566
Ensembl chr12:53,235,801...53,249,467 		JBrowse link
G PRPH2 peripherin 2 ISO ClinVar Annotator: match by term: Central areolar choroidal dystrophy ClinVar PMID:25741868 NCBI chr 7:37,788,547...37,805,142
Ensembl chr 7:37,790,178...37,805,142 		JBrowse link
G TTLL5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Central areolar choroidal dystrophy ClinVar PMID:25741868 NCBI chr 7:98,822,338...99,090,076
Ensembl chr 7:98,823,871...99,130,915 		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 OMIM
ClinVar		 PMID:7493155 PMID:7825692 PMID:7880786 PMID:8015786 PMID:8111389 More... NCBI chr 7:37,788,547...37,805,142
Ensembl chr 7:37,790,178...37,805,142 		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 ISO OMIM:613105 MouseDO NCBI chr 7:37,788,547...37,805,142
Ensembl chr 7:37,790,178...37,805,142 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    sensory system disease 6506
      eye disease 3323
        eye degenerative disease 823
          choroidal sclerosis 4
            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 17415
    disease of anatomical entity 14875
      nervous system disease 12962
        Neurologic Manifestations 9419
          sensory system disease 6506
            eye disease 3323
              uveal disease 221
                choroid disease 65
                  choroidal sclerosis 4
                    Senile atrophy of choroid 0
                    angioid streaks of choroid 0
                    diffuse secondary choroid atrophy 0
                    hereditary choroidal atrophy + 1
paths to the root