Preferred Name |
Leber congenital amaurosis |
|
Synonyms |
Leber's amaurosis |
|
Definitions |
Xref MGI. OMIM mapping confirmed by DO. [SN]. A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. |
|
ID |
http://purl.obolibrary.org/obo/DOID_14791 |
|
comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
|
database_cross_reference |
UMLS_CUI:C0339527 MESH:D057130 OMIM:PS204000 SNOMEDCT_US_2020_03_01:193413001 NCI:C129075 GARD:634 ORDO:65 |
|
has exact synonym |
Leber's amaurosis Leber's disease LCA Leber's congenital amaurosis |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:14791 |
|
imported from | ||
in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim |
|
label |
Leber congenital amaurosis |
|
notation |
DOID:14791 |
|
prefLabel |
Leber congenital amaurosis |
|
textual definition |
A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. |
|
subClassOf |
The BioAssay Ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.
Term Label (required)
Suggested term name. If a term can be described with multiple synonyms, only list the preferred name here.
Example: tissue-based format
Term description (required)
A brief definition, description, or usage of your suggested term. Additional term synonyms may be listed in this section.
Example: Involves the use of a tissue derived from a living organism and is a heterogeneous assay type.
Superclass (required)
The parent term of the suggested term. The parent term should be an existing entry of the current ontology. The superclass can be selected directly from the 'Classes' viewer on Bioportal's left tree navigation.
Example: assay format
References (optional)
Provide evidence for the existence of the requested term such as PMIDs of papers or links to other resources that describe the term.
Justification (optional)
Provide any additional information about the requested term here.