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DO Term : familial benign fleck retina [DOID:0111677] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A retinal disease characterized by a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but with no apparent visual or electrophysiologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the PLA2G5 gene on chromosome 1p36.13.
  • synonyms:
  • UMLS_CUI:C1856718,
  • MESH:C565564,
  • SNOMEDCT_US_2023_03_01:770434009,
  • ORDO:363989,
  • 228980,
  • OMIM:228980,
  • FRFB
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents