| Metadata | |
|---|---|
| ID | DOID:0111541 |
| Name | pigmented paravenous chorioretinal atrophy |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/15623792, https://www.ncbi.nlm.nih.gov/pubmed/3778279 |
| Xrefs |
SNOMEDCT_US_2023_03_01:723450004 |
| Subsets |
DO_rare_slim |
| Synonyms |
PPRCA [EXACT] |
| Parent Relationships |
is_a eye disease |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |