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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
For additional species annotation, visit the Alliance of Genome Resources.

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 Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Choroidal sclerosis
ClinVar Annotator: match by term: Choroidal dystrophy, central areolar 1		 ClinVar
OMIM		 PMID:8554074 PMID:8733141 PMID:9618177 PMID:10766140 PMID:10951519 PMID:11115851 PMID:12552567 PMID:15175914 PMID:16505055 PMID:17724218 PMID:17964524 PMID:20050595 PMID:22695961 PMID:23035049 PMID:25477517 PMID:25741868 PMID:26253563 PMID:26298565 PMID:26626312 PMID:28492532 PMID:29061346 PMID:29559409 PMID:30718709 NCBI chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235 		JBrowse link
G Prph2 peripherin 2 ISO DNA:polymorphism:cds:p.R142W(human)
ClinVar Annotator: match by term: Choroidal dystrophy central areolar
DNA:missense mutation:cds:p.R195L(human)		 ClinVar PMID:25741868, PMID:8644804, PMID:16832026 RGD:8553207, RGD:8554858 NCBI chr 9:16,085,933...16,386,176 JBrowse link
G Ttll5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Choroidal dystrophy central areolar ClinVar PMID:25741868 NCBI chr 6:109,693,915...109,910,479
Ensembl chr 6:109,710,781...109,879,607 		JBrowse link
Choroidal Dystrophy, Central Areolar 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: MACULAR DYSTROPHY, PROGRESSIVE
ClinVar Annotator: match by term: Choroidal dystrophy, central areolar 2
ClinVar Annotator: match by OMIM:613105		 OMIM
ClinVar		 PMID:7493155 PMID:8015786 PMID:8302543 PMID:8485576 PMID:8644804 PMID:8675410 PMID:8747448 PMID:8994365 PMID:9010868 PMID:9443872 PMID:14510799 PMID:14557183 PMID:18310263 PMID:19038374 PMID:19243827 PMID:24463884 PMID:24629188 PMID:25474345 PMID:25741868 PMID:26161267 PMID:28076437 PMID:28492532 PMID:28559085 PMID:30718709 NCBI chr 9:16,085,933...16,386,176 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 9:16,085,933...16,386,176 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    sensory system disease 5201
      eye disease 2608
        eye degenerative disease 470
          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 16158
    disease of anatomical entity 15408
      nervous system disease 11007
        sensory system disease 5201
          eye disease 2608
            uveal disease 227
              choroid disease 56
                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