Human Disease Ontology

Last uploaded: June 2, 2024
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Preferred Name

Leber congenital amaurosis
Synonyms

Leber's amaurosis

Leber's congenital amaurosis
Definitions

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].
database_cross_reference

UMLS_CUI:C0339527

MESH:D057130

SNOMEDCT_US_2023_03_01:193413001

MIM:PS204000

NCI:C129075

GARD:634

ORDO:65
definition

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

http://purl.obolibrary.org/obo/HP_0001197
has exact synonym

Leber's amaurosis

Leber's disease

LCA

Leber's congenital amaurosis
has_obo_namespace

disease_ontology
id

DOID:14791
in_subset

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

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

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

Leber congenital amaurosis
notation

DOID:14791
prefLabel

Leber congenital amaurosis
subClassOf

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

http://purl.obolibrary.org/obo/DOID_0080015
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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 DTO 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 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://purl.obolibrary.org/obo/MONDO_0018998 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018998 EFO 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://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C129075 NCIT 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
http://www.gamuts.net/entity#Leber_congenital_amaurosis GAMUTS REST