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 |
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ID |
http://purl.bioontology.org/ontology/NDFRT/N0000181128 |
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altLabel |
Leber Abiotrophy Leber Congenital Amaurosis Amaurosis, Leber Congenital Congenital Retinal Blindness Leber's Amaurosis Leber Congenital Tapetoretinal Degeneration |
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cui |
C0339527 |
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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. |
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MESH DUI |
D057130 |
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MeSH name |
Leber Congenital Amaurosis |
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MESH UI |
M0534720 |
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NDFRT kind |
DISEASE_KIND |
|
notation |
N0000181128 |
|
NUI |
N0000181128 |
|
prefLabel |
Leber Congenital Amaurosis [Disease/Finding] |
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tui |
T047 |
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subClassOf |