loading...| Preferred Name | obsolete_Leber congenital amaurosis | |
| Synonyms |
Amaurosis congenita of Leber |
|
| Definitions |
Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness, nystagmus, roving eye movement and lack of detectable signals on an electroretinogram (ERG), leading to severe visual impairment within the first year of life. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_65 |
|
| Obsolete |
true |
|
| database_cross_reference |
OMIM:204000 OMIM:604537 ICD10:H35.5 OMIM:204100 OMIM:613829 OMIM:613826 OMIM:613835 OMIM:613837 MeSH:D057130 OMIM:179900 OMIM:604232 UMLS:C0339527 OMIM:613843 OMIM:610612 OMIM:618513 OMIM:614186 OMIM:615360 OMIM:608553 OMIM:617879 OMIM:613341 MedDRA:10070667 OMIM:604393 OMIM:611755 OMIM:612712 |
|
| definition |
Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness, nystagmus, roving eye movement and lack of detectable signals on an electroretinogram (ERG), leading to severe visual impairment within the first year of life. |
|
| definition_citation |
orphanet |
|
| deprecated |
true |
|
| has_exact_synonym |
Amaurosis congenita of Leber |
|
| label |
obsolete_Leber congenital amaurosis |
|
| obsoleted_in_version |
3.41.0 |
|
| preferred label |
obsolete_Leber congenital amaurosis |
|
| prefLabel |
obsolete_Leber congenital amaurosis |
|
| reason_for_obsolescence |
Replaced with Mondo term. |
|
| term replaced by | ||
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_65 | EFO | SAME_URI | |
| http://www.orpha.net/ORDO/Orphanet_65 | EFO | SAME_URI | |
| http://www.orpha.net/ORDO/Orphanet_65 | ORDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0002018 | MONDO | LOOM | |
| http://www.orpha.net/ORDO/Orphanet_65 | EFO | LOOM | |
| http://www.orpha.net/ORDO/Orphanet_65 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0002018 | MONDO | LOOM |