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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:pigmented paravenous chorioretinal atrophy
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Accession:DOID:0111541 term browser browse the term
Definition:An eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that has_material_basis_in heterozygous mutation in the CRB1 gene on chromosome 1q31.3. (DO)
Synonyms:exact_synonym: PPCRA;   PPRCA
 primary_id: MESH:C566801
 alt_id: OMIM:172870
 xref: ORDO:251295


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pigmented paravenous chorioretinal atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb1 crumbs cell polarity complex component 1 ISO DNA:missense mutation:cds:p.V162M (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophy		 OMIM
CTD
ClinVar
RGD		 PMID:1389483 PMID:1427914 PMID:9536098 PMID:10508521 PMID:11231775 More... RGD:8552694 NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6961
      eye disease 3492
        Hereditary Eye Diseases 1101
          pigmented paravenous chorioretinal atrophy 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Neurologic Manifestations 10055
          sensory system disease 6961
            eye disease 3492
              retinal disease 1223
                retinal degeneration 853
                  pigmented paravenous chorioretinal atrophy 1
paths to the root