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loading...| Preferred Name | Leber congenital amaurosis | |
| Synonyms |
Leber's amaurosis Leber's disease LCA Leber's congenital amaurosis |
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| 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]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_14791 |
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| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
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| database_cross_reference |
UMLS_CUI:C0339527 MESH:D057130 SNOMEDCT_US_2023_03_01:193413001 MIM:PS204000 NCI:C129075 GARD:634 ORDO:65 |
|
| definition |
A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. |
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| disease has basis in | ||
| has exact synonym |
Leber's amaurosis Leber's disease LCA Leber's congenital amaurosis |
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| has_obo_namespace |
disease_ontology |
|
| id |
DOID:14791 |
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| in_subset |
http://purl.obolibrary.org/obo/doid#NCIthesaurus |
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| label |
Leber congenital amaurosis |
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| notation |
DOID:14791 |
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| prefLabel |
Leber congenital amaurosis |
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| subClassOf |
Create mapping