Drug Target Ontology

Last uploaded: February 15, 2018
Preferred Name

Leber congenital amaurosis
Synonyms
Definitions

A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. Xref MGI. OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_14791

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

definition

A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.

hasDbXref

OMIM:PS204000

MESH:D057130

ORDO:65

SNOMEDCT_US_2016_03_01:193413001

UMLS_CUI:C0339527

hasExactSynonym

Leber's disease

Leber's amaurosis

LCA

Leber's congenital amaurosis

hasOBONamespace

disease_ontology

id

DOID:14791

imported from

http://purl.obolibrary.org/obo/doid.owl

inSubset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#DO_FlyBase_slim

label

Leber congenital amaurosis

prefixIRI

DOID:14791

prefLabel

Leber congenital amaurosis

subClassOf

http://purl.obolibrary.org/obo/DOID_5679

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_14791 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_14791 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_14791 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_14791 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_14791 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_14791 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_14791 MIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_14791 FNS-H 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 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 CCONT 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