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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	MESH:C566801 OMIM:172870 ORDO:251295 SNOMEDCT_US_2023_03_01:723450004 UMLS_CUI:C1868310
Subsets	DO_rare_slim
Synonyms	PPRCA [EXACT]
Parent Relationships	is_a eye disease is_a autosomal dominant disease