Term Name: | pigmented paravenous chorioretinal atrophy |
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Synonyms: | PPRCA |
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. |
Ontology: | Human Disease [DOID:0111541] ( DOID:0111541 ) |