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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 CRB1 on chromosome 1q31.3. (DO)
Synonyms:exact_synonym: PPCRA;   PPRCA
 primary_id: MESH:C566801
 alt_id: OMIM:172870
 xref: ORDO:251295
For additional species annotation, visit the Alliance of Genome Resources.


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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)
ClinVar Annotator: match by OMIM:172870
ClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophy
OMIM
ClinVar
PMID:10508521, PMID:11231775, PMID:12843338, PMID:14971589, PMID:15459956, PMID:15623792, PMID:16123401, PMID:16272259, PMID:17964524, PMID:18055816, PMID:19339744, PMID:19401883, PMID:20079931, PMID:20301475, PMID:20956273, PMID:21602930, PMID:22065545, PMID:23379534, PMID:24033266, PMID:24512366, PMID:25097241, PMID:25741868, PMID:27113771, PMID:28041643, PMID:28492532, PMID:30029497, PMID:30311386, PMID:30718709, PMID:15623792 RGD:8552694 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    sensory system disease 5163
      eye disease 2592
        Hereditary Eye Diseases 572
          pigmented paravenous chorioretinal atrophy 1
Path 2
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5628
            autosomal genetic disease 4631
              autosomal dominant disease 2996
                pigmented paravenous chorioretinal atrophy 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.