Leber congenital amaurosis

Term ID

DOID:14791

Synonyms

LCA
Leber's amaurosis
Leber's congenital amaurosis
Leber's disease

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

References

GARD:634
MESH:D057130
MIM:PS204000
NCI:C129075
ORDO:65
SNOMEDCT_US_2023_03_01:193413001
UMLS_CUI:C0339527

Ontology

Human Disease ( DOID:14791 )

Relationships

is a type of: physical disorder retinal disease

physical disorder retinal disease Show first 5 Terms
has subtype: Leber congenital amaurosis 1 Leber congenital amaurosis 2 Leber congenital amaurosis 3 Leber congenital amaurosis 4 Leber congenital amaurosis 5 ... Show All 18 Terms

Leber congenital amaurosis 1 Leber congenital amaurosis 2 Leber congenital amaurosis 3 Leber congenital amaurosis 4 Leber congenital amaurosis 5 Leber congenital amaurosis 6 Leber congenital amaurosis 7 Leber congenital amaurosis 8 Leber congenital amaurosis 9 Leber congenital amaurosis 10 Leber congenital amaurosis 11 Leber congenital amaurosis 12 Leber congenital amaurosis 13 Leber congenital amaurosis 14 Leber congenital amaurosis 15 Leber congenital amaurosis 16 Leber congenital amaurosis 17 Leber congenital amaurosis 19 Show first 5 Terms

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Alliance (1)

Genes Involved

Zebrafish Models