OBO ID: DOID:0111541
Term Name: pigmented paravenous chorioretinal atrophy Search Ontology:
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 CRB1 on chromosome 1q31.3. (2)
References:
Ontology: Human Disease   (DOID:0111541)
OTHER pigmented paravenous chorioretinal atrophy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CRB1 Pigmented paravenous chorioretinal atrophy 172870
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None