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DO Term : pigmented paravenous chorioretinal atrophy [DOID:0111541] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • SNOMEDCT_US_2023_03_01:723450004,
  • ORDO:251295,
  • 172870,
  • OMIM:172870,
  • PPRCA,
  • UMLS_CUI:C1868310,
  • MESH:C566801
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Disease

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