Preferred Name

Leber Congenital Amaurosis [Disease/Finding]
Synonyms

Leber Abiotrophy

Leber Congenital Amaurosis

Amaurosis, Leber Congenital

Congenital Retinal Blindness

Leber's Amaurosis

Leber Congenital Tapetoretinal Degeneration

ID

http://purl.bioontology.org/ontology/NDFRT/N0000181128

altLabel

Leber Abiotrophy

Leber Congenital Amaurosis

Amaurosis, Leber Congenital

Congenital Retinal Blindness

Leber's Amaurosis

Leber Congenital Tapetoretinal Degeneration

cui

C0339527

MESH DEFINITION

A rare degenerative inherited eye disease that appears at birth or in the first few months of life that results in a loss of vision. Not to be confused with LEBER HEREDITARY OPTIC NEUROPATHY, the disease is thought to be caused by abnormal development of PHOTORECEPTOR CELLS in the RETINA, or by the extremely premature degeneration of retinal cells.

MESH DUI

D057130

MeSH name

Leber Congenital Amaurosis

MESH UI

M0534720

NDFRT kind

DISEASE_KIND

notation

N0000181128

NUI

N0000181128

prefLabel

Leber Congenital Amaurosis [Disease/Finding]

tui

T047

subClassOf

http://purl.bioontology.org/ontology/NDFRT/N0000003314

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