Experimental Factor Ontology

Last uploaded: October 15, 2024

Details
Visualization
Notes ( 0 )
Class Mappings ( )

Preferred Name	ataxia telangiectasia
Synonyms	ataxia - telangiectasia variant cerebello-oculocutaneous telangiectasia immunodeficiency with ataxia telangiectasia ataxia-telangiectasia AT, complementation group C AT, complementation group A AT, complementation group D AT, complementation group E AT AT1 Louis Bar syndrome ataxia telangiectasia ataxia telangiectasia syndrome ataxia - telangiectasia boder-Sedgwick syndrome Louis-Bar syndrome
Definitions	Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.
ID	http://purl.obolibrary.org/obo/MONDO_0008840
curated_content_resource	https://search.clinicalgenome.org/kb/conditions/MONDO:0008840
database_cross_reference	OMIM:208900 NANDO:1200331 MedDRA:10003594 NANDO:2200705 SCTID:68504005 Orphanet:100 UMLS:C0004135 MESH:D001260 DOID:12704 GARD:5862 ICD9:334.8 MEDGEN:439 NCIT:C2887 NORD:816
definition	Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.
has_exact_synonym	Louis Bar syndrome ataxia telangiectasia ataxia telangiectasia syndrome ataxia - telangiectasia boder-Sedgwick syndrome Louis-Bar syndrome
has_related_synonym	ataxia - telangiectasia variant cerebello-oculocutaneous telangiectasia immunodeficiency with ataxia telangiectasia ataxia-telangiectasia AT, complementation group C AT, complementation group A AT, complementation group D AT, complementation group E AT AT1
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/5682 https://github.com/monarch-initiative/mondo/issues/6752
id	MONDO:0008840
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen 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	ataxia telangiectasia
notation	MONDO:0008840
preferred label	ataxia telangiectasia
prefLabel	ataxia telangiectasia
see also	https://rarediseases.info.nih.gov/diseases/5862/ataxia-telangiectasia
skos_closeMatch	http://identifiers.org/meddra/10003594
skos_exactMatch	http://linkedlifedata.com/resource/umls/id/C0004135 http://purl.obolibrary.org/obo/Orphanet_100 http://identifiers.org/medgen/439 http://identifiers.org/snomedct/68504005 http://identifiers.org/mesh/D001260 http://purl.obolibrary.org/obo/DOID_12704 https://omim.org/entry/208900 http://purl.obolibrary.org/obo/NCIT_C2887
subClassOf	http://purl.obolibrary.org/obo/MONDO_0015131 http://purl.obolibrary.org/obo/MONDO_0019852 http://purl.obolibrary.org/obo/MONDO_0100545
excluded_subClassOf	http://purl.obolibrary.org/obo/MONDO_0042983 http://purl.obolibrary.org/obo/MONDO_0019293

Add comment

Add proposal

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display

Create mapping

Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0008840	CCONT	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008840	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008840	DOVES	SAME_URI
http://nanbyodata.jp/ontology/NANDO_2200705	NANDO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10003594	MEDDRA	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036572	PMAPP-PMO	LOOM
http://bioontology.org/projects/ontologies/birnlex#birnlex_12649	BIRNLEX	LOOM
http://purl.bioontology.org/ontology/MESH/D001260	MESH	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_104	HRDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.252.190.530.060	RH-MESH	LOOM
http://purl.obolibrary.org/obo/OMIT_0002644	OMIT	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_12704	NATPRO	LOOM
http://purl.obolibrary.org/obo/DERMO_0000598	DERMO	LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000042838	PDQ	LOOM
http://purl.bioontology.org/ontology/CSP/0485-2495	CRISP	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.597.350.090.500.530.060	RH-MESH	LOOM
http://www.orpha.net/ORDO/Orphanet_100	CCONT	LOOM
http://www.orpha.net/ORDO/Orphanet_100	ORDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.562.100	RH-MESH	LOOM
http://purl.bioontology.org/ontology/OMIM/208900	OMIM	LOOM
http://purl.obolibrary.org/obo/MONDO_0008840	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0008840	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0008840	DOVES	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.907.823.213	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D001260	RH-MESH	LOOM
http://www.semanticweb.org/alan/ontologies/2013/8/untitled-ontology-9#Ataxia_Telangiectasia	DLORO	LOOM
http://purl.jp/bio/4/id/200906078141537445	IOBC	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C20.673.290	RH-MESH	LOOM
http://identifiers.org/omim/208900	REXO	LOOM
http://identifiers.org/omim/208900	GEXO	LOOM
http://identifiers.org/omim/208900	RETO	LOOM
http://nanbyodata.jp/ontology/NANDO_1200331	NANDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.284.060	RH-MESH	LOOM
http://localhost/plosthes.2017-1#2561	PLOSTHES	LOOM
http://purl.bioontology.org/ontology/RCD/F14y0	RCD	LOOM
http://radlex.org/RID/RID5126	RADLEX	LOOM
http://purl.obolibrary.org/obo/OMIM_208900	CCO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.080	RH-MESH	LOOM
http://id.nlm.nih.gov/mesh/D001260	MDM	LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0004135	MEDLINEPLUS	LOOM
http://purl.obolibrary.org/obo/DOID_12704	CLO	LOOM
http://purl.obolibrary.org/obo/DOID_12704	DTO	LOOM
http://purl.obolibrary.org/obo/DOID_12704	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_12704	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_12704	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_12704	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_12704	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_12704	FNS-H	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14433	DERMLEX	LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12649	NIFDYS	LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12649	NIFSTD	LOOM
http://purl.bioontology.org/ontology/RCTV2/F14y000	RCTV2	LOOM
rgo:07009	GAMUTS	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#1551	OCHV	LOOM