loading...| Preferred Name | Leber congenital amaurosis | |
| Synonyms |
Leber's amaurosis Leber's disease LCA Leber's 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]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_14791 |
|
| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
|
| alternative label |
Leber's amaurosis Leber's disease LCA Leber's congenital amaurosis |
|
| database_cross_reference |
UMLS_CUI:C0339527 MESH:D057130 SNOMEDCT_US_2023_03_01:193413001 OMIM: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. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
|
| disease has basis in | ||
| has exact synonym |
Leber's amaurosis Leber's disease LCA Leber's congenital amaurosis |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:14791 |
|
| in_subset |
http://purl.obolibrary.org/obo/doid#NCIthesaurus |
|
| label |
Leber congenital amaurosis |
|
| notation |
DOID:14791 |
|
| note |
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]. |
|
| preferred label |
Leber congenital amaurosis |
|
| prefLabel |
Leber congenital amaurosis |
|
| subClassOf |
http://purl.obolibrary.org/obo/DOID_5679 |