Term Name: pigmented paravenous chorioretinal atrophy
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 )

Relationships
is a type of: autosomal dominant disease eye disease