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Leber Congenital Amaurosis

^ http://purl.obolibrary.org/obo/NCIT_C129075


A congenital retinopathy that is associated with mutation(s) in at least eighteen genes, typically characterized by severe visual impairment. [ NCI ]

Synonyms: Leber Congenital Amaurosis

Term info

Preferred Name

Leber Congenital Amaurosis

Semantic Type

Disease or Syndrome

UMLS CUI

C0339527

code

C129075

Term relations