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Metadata
ID DOID:14791
Name Leber congenital amaurosis
Definition A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.
http://en.wikipedia.org/wiki/Leber%27s_congenital_amaurosis
Xrefs

GARD:634

MESH:D057130

NCI:C129075

OMIM:PS204000

ORDO:65

SNOMEDCT_US_2020_09_01:193413001

UMLS_CUI:C0339527

Subsets

DO_FlyBase_slim

DO_rare_slim

NCIthesaurus

Synonyms

LCA [EXACT]

Leber's amaurosis [EXACT]

Leber's congenital amaurosis [EXACT]

Leber's disease [EXACT]

Parent Relationships

is_a retinal disease

is_a physical disorder

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