FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term pigmented paravenous chorioretinal atrophy ID (Ontology) DOID:0111541 (Human Disease)
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.
Also Known As "PPRCA"
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DO.org
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 Genes
 pigmented paravenous chorioretinal atrophy       1
 for disease ribbon | pigmented paravenous chorioretinal atrophy       1
 model of | pigmented paravenous chorioretinal atrophy       1
Spanning Tree (Parents/Children)
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sensory system disease
 |__eye disease_________________
autosomal genetic disease       |
 |__autosomal dominant disease__|
                                pigmented paravenous chorioretinal atrophy  1 rec.
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Is a autosomal dominant disease
eye disease
Part of
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Synonyms
  • "PPRCA" EXACT OMO:0003012
Secondary IDs
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MESH:C566801
MIM:172870
ORDO:251295
SNOMEDCT_US_2023_03_01:723450004
UMLS_CUI:C1868310