Cell Culture Ontology

Last uploaded: July 23, 2014
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

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.

ID

http://purl.obolibrary.org/obo/MONDO_0018998

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.

has_exact_synonym

Leber congenital amaurosis

Leber's amaurosis

amaurosis congenita of Leber

Leber's disease

Leber's congenital amaurosis

LCA

has_related_synonym

congenital retinal blindness

Leber's congenital tapetoretinal degeneration

congenital absence of the rods and cones

Leber's congenital tapetoretinal dysplasia

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4069

id

MONDO:0018998

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

label

Leber congenital amaurosis

notation

MONDO:0018998

preferred label

Leber congenital amaurosis

prefLabel

Leber congenital amaurosis

skos_closeMatch

http://identifiers.org/meddra/10070667

skos_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

http://purl.obolibrary.org/obo/NCIT_C129075

subClassOf

http://purl.obolibrary.org/obo/MONDO_0019118

http://purl.obolibrary.org/obo/MONDO_0002320

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0018998 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018998 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018998 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018998 DOVES SAME_URI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.270.516 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_14791 CLO LOOM
http://purl.obolibrary.org/obo/DOID_14791 DTO LOOM
http://purl.obolibrary.org/obo/DOID_14791 DOID LOOM
http://purl.obolibrary.org/obo/DOID_14791 BAO LOOM
http://purl.obolibrary.org/obo/DOID_14791 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14791 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_14791 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14791 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_14791 FNS-H LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU020281 OMIM LOOM
http://www.phoc.org.cn/pmo/class/PMO_00037133 PMAPP-PMO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C129075 NCIT LOOM
http://purl.obolibrary.org/obo/MONDO_0018998 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018998 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018998 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018998 DOVES LOOM
http://purl.jp/bio/4/id/200906035255009260 IOBC LOOM
http://www.limics.org/hrdo/rdfns#pat_id_3243 HRDO LOOM
http://purl.bioontology.org/ontology/MESH/D057130 MESH LOOM
http://www.orpha.net/ORDO/Orphanet_65 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.768.364 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14791 NATPRO LOOM
rgo:26659 GAMUTS LOOM
http://purl.obolibrary.org/obo/OMIT_0026867 OMIT LOOM
http://purl.obolibrary.org/obo/NCIT_C129075 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D057130 RH-MESH LOOM
http://www.semanticweb.org/hamide/ontologies/2019/3/IRD_1_2 HAMIDEHSGH LOOM