|
| General Information | |||
|---|---|---|---|
| Term | Leber congenital amaurosis | ID (Ontology) | DOID:14791 (Human Disease) |
| Definition | A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. | ||
| Also Known As | "LCA" ; "Leber's amaurosis" ; "Leber's congenital amaurosis" (for all, see Synonyms field below) | ||
| Comment | |||
| Links to External Ontologies | |||
| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
|||
|
||||||
disease |__physical disorder__ eye disease | |__retinal disease____| Leber congenital amaurosis 34 rec. |__Leber congenital amaurosis 1 3 rec. |__Leber congenital amaurosis 2 1 rec. |__Leber congenital amaurosis 3 |__Leber congenital amaurosis 4 1 rec. |__Leber congenital amaurosis 5 1 rec. |__Leber congenital amaurosis 6 |__Leber congenital amaurosis 7 2 rec. |__Leber congenital amaurosis 8 3 rec. |__Leber congenital amaurosis 9 1 rec. |__Leber congenital amaurosis 10 1 rec. |__Leber congenital amaurosis 11 1 rec. |__Leber congenital amaurosis 12 |__Leber congenital amaurosis 13 8 rec. |__Leber congenital amaurosis 14 |__Leber congenital amaurosis 15 1 rec. |__Leber congenital amaurosis 16 2 rec. |__Leber congenital amaurosis 17 |__Leber congenital amaurosis 19 1 rec. |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a |
physical disorder retinal disease |
||
| Part of | |||
|
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
|
External Crossreferences & Linkouts
|
|||
|
GARD:634 MESH:D057130 MIM:PS204000 NCI:C129075 ORDO:65 SNOMEDCT_US_2023_03_01:193413001 UMLS_CUI:C0339527 |
|||