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BioAssay Ontology
Last uploaded:
January 17, 2025
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| Id | http://purl.obolibrary.org/obo/DOID_14791
http://purl.obolibrary.org/obo/DOID_14791
|
|---|---|
| Preferred Name | Leber congenital amaurosis |
| Definitions |
A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.
Xref MGI.
OMIM mapping confirmed by DO. [SN].
|
| Synonyms |
Leber's amaurosis
Leber's disease
LCA
Leber's congenital amaurosis
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label |
Leber congenital amaurosis
|
|---|---|
| comment |
Xref MGI.
OMIM mapping confirmed by DO. [SN].
|
| prefLabel |
Leber congenital amaurosis
|
| has cross-reference |
UMLS_CUI:C0339527
MESH:D057130
OMIM:PS204000
SNOMEDCT_US_2020_03_01:193413001
NCI:C129075
GARD:634
ORDO:65
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|
| notation |
DOID:14791
|
| in_subset | |
| id |
DOID:14791
|
| has_obo_namespace |
disease_ontology
|
| textual definition |
A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.
|
| subClassOf | |
| imported from | |
| type | |
| has exact synonym |
Leber's amaurosis
Leber's disease
LCA
Leber's congenital amaurosis
|
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