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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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| Id | http://purl.obolibrary.org/obo/MONDO_0018998
http://purl.obolibrary.org/obo/MONDO_0018998
|
|---|---|
| Preferred Name | Leber congenital amaurosis |
| Definitions |
Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.
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| Synonyms |
congenital absence of the rods and cones
congenital retinal blindness
Leber's congenital tapetoretinal degeneration
Leber's congenital tapetoretinal dysplasia
Leber's disease
Leber's amaurosis
LCA
Leber's congenital amaurosis
Leber congenital amaurosis
amaurosis congenita of Leber
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life. |
|---|---|
| altLabel |
congenital absence of the rods and cones
congenital retinal blindness
Leber's congenital tapetoretinal degeneration
Leber's congenital tapetoretinal dysplasia
Leber's disease
Leber's amaurosis
LCA
Leber's congenital amaurosis
Leber congenital amaurosis
amaurosis congenita of Leber
See more
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|
| label | Leber congenital amaurosis
|
| prefLabel | Leber congenital amaurosis
|
| IAO_0000233 | |
| has_related_synonym |
congenital absence of the rods and cones
congenital retinal blindness
Leber's congenital tapetoretinal degeneration
Leber's congenital tapetoretinal dysplasia
|
| prefixIRI | MONDO:0018998
|
| textual definition | Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.
|
| subClassOf | |
| type | |
| has_exact_synonym |
Leber's disease
Leber's amaurosis
LCA
Leber's congenital amaurosis
Leber congenital amaurosis
amaurosis congenita of Leber
See more
See less
|
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