Drug Target Ontology

Last uploaded: February 15, 2018
Preferred Name

Leber congenital amaurosis

Synonyms
Definitions

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

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

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_14791 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_14791 CLO 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/DOID_14791 DOID LOOM
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 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

This ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.

Term Label (required)
Suggested term name. If a term can be described with multiple synonyms, only list the preferred name here.

Term description (required)
A brief definition, description, or usage of your suggested term. Additional term synonyms may be listed in this section.

Superclass (required)
The parent term of the suggested term. The parent term should be an existing entry of the current ontology. The superclass can be selected directly from Bioportal's Classes tree viewer.

References (optional)
Provide evidence for the existence of the requested term such as Pubmed IDs of papers or links to other resources that describe the term.

Justification (optional)
Provide any additional information about the requested term here.

Request New Term