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DO Term : Leber congenital amaurosis 2 [DOID:0110016] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has_material_basis_in mutation in the RPE65 gene on chromosome 1.
  • synonyms:
  • amaurosis congenita of Leber II,
  • ICD10CM:H35.5,
  • 204100,
  • OMIM:204100,
  • LCA2
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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