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Disease Ontology Browser
pigmented paravenous chorioretinal atrophy (DOID:0111541)
Alliance: disease page
Synonyms: PPRCA
Alt IDs: OMIM:172870, MESH:C566801, ORDO:251295, UMLS_CUI:C1868310
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory