Search Ontology:
Human Disease

pigmented paravenous chorioretinal atrophy

Term ID
DOID:0111541
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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