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 the CRB1 gene on chromosome 1q31.3. (2)
References:
Ontology: Human Disease   ( DOID:0111541 )
Relationships
is a type of:
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
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.