National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
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Preferred Name

Leber Congenital Amaurosis
Synonyms

Leber Congenital Amaurosis
Definitions

A congenital retinopathy that is associated with mutation(s) in at least eighteen genes, typically characterized by severe visual impairment.
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C129075
code

C129075
Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258
Contributing_Source

Cellosaurus
DEFINITION

A congenital retinopathy that is associated with mutation(s) in at least eighteen genes, typically characterized by severe visual impairment.
FULL_SYN

Leber Congenital Amaurosis
label

Leber Congenital Amaurosis
Preferred_Name

Leber Congenital Amaurosis
prefixIRI

Thesaurus:C129075
Semantic_Type

Disease or Syndrome
UMLS_CUI

C3553847
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543
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http://purl.obolibrary.org/obo/MONDO_0018998 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018998 EFO LOOM
http://purl.obolibrary.org/obo/DOID_14791 DOID LOOM
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 BAO LOOM
http://purl.obolibrary.org/obo/DOID_14791 HHEAR 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://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://www.gamuts.net/entity#Leber_congenital_amaurosis GAMUTS 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
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