loading...| Preferred Name | Leber congenital amaurosis | |
| Synonyms |
congenital retinal blindness Leber's congenital tapetoretinal degeneration congenital absence of the rods and cones Leber's congenital tapetoretinal dysplasia Leber congenital amaurosis Leber's amaurosis amaurosis congenita of Leber Leber's disease Leber's congenital amaurosis LCA |
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| 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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| ID |
http://purl.obolibrary.org/obo/MONDO_0018998 |
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| closeMatch | ||
| database_cross_reference |
OMIMPS:204000 ICD10CM:H35.5 MESH:D057130 SCTID:193413001 Orphanet:65 UMLS:C0339527 MEDGEN:137922 icd11.foundation:650490256 MedDRA:10070667 NCIT:C129075 DOID:14791 GARD:634 NORD:1351 |
|
| 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. |
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| exactMatch |
http://purl.obolibrary.org/obo/DOID_14791 http://identifiers.org/medgen/137922 http://purl.obolibrary.org/obo/Orphanet_65 http://identifiers.org/snomedct/193413001 http://linkedlifedata.com/resource/umls/id/C0339527 http://identifiers.org/mesh/D057130 https://omim.org/phenotypicSeries/PS204000 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/650490256 |
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| has_exact_synonym |
Leber congenital amaurosis Leber's amaurosis amaurosis congenita of Leber Leber's disease Leber's congenital amaurosis LCA |
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| has_related_synonym |
congenital retinal blindness Leber's congenital tapetoretinal degeneration congenital absence of the rods and cones Leber's congenital tapetoretinal dysplasia |
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| IAO_0000233 | ||
| id |
MONDO:0018998 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
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| label |
Leber congenital amaurosis |
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| notation |
MONDO:0018998 |
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| preferred label |
Leber congenital amaurosis |
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| prefLabel |
Leber congenital amaurosis |
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| subClassOf |