| Metadata | |
|---|---|
| ID | DOID:14791 |
| Name | Leber congenital amaurosis |
| Definition | A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. http://en.wikipedia.org/wiki/Leber%27s_congenital_amaurosis |
| Xrefs |
SNOMEDCT_US_2023_03_01:193413001 |
| Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
| Synonyms |
LCA [EXACT] Leber's amaurosis [EXACT] Leber's congenital amaurosis [EXACT] Leber's disease [EXACT] |
| Parent Relationships |
is_a retinal disease is_a physical disorder |
| Subclass Logical Relationships |
disease has basis in some Abnormality of prenatal development or birth |