Terminology Service for NFDI4Health
Leber congenital amaurosis
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http://purl.obolibrary.org/obo/DOID_14791
A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. [ http://purl.obolibrary.org/obo/ECO_0007638 ]
Term info
Label
Leber congenital amaurosis
Synonyms
- LCA
- Leber's amaurosis
- Leber's congenital amaurosis
- Leber's disease
Subsets
DO_FlyBase_slim, DO_rare_slim, NCIthesaurus
comment
Xref MGI. OMIM mapping confirmed by DO. [SN].
has obo namespace
disease_ontology
id
DOID:14791