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DO Term : Leber congenital amaurosis 5 [DOID:0110215] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the LCA5 gene on chromosome 6q14.1.
  • synonyms:
  • ICD10CM:H35.5,
  • 604537,
  • OMIM:604537,
  • LCA5
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Disease

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Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents