Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023
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Preferred Name

ataxia telangiectasia
Synonyms

ataxia - telangiectasia variant

immunodeficiency with ataxia telangiectasia

AT, complementation group C

AT

AT, complementation group D

AT1

ataxia-telangiectasia

cerebello-oculocutaneous telangiectasia

AT, complementation group A

AT, complementation group E

ataxia telangiectasia syndrome

boder-Sedgwick syndrome

Louis-Bar syndrome

ataxia - telangiectasia

Louis Bar syndrome

ataxia telangiectasia
Definitions

Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.
ID

http://purl.obolibrary.org/obo/MONDO_0008840
altLabel

ataxia - telangiectasia variant

immunodeficiency with ataxia telangiectasia

AT, complementation group C

AT

AT, complementation group D

AT1

ataxia-telangiectasia

cerebello-oculocutaneous telangiectasia

AT, complementation group A

AT, complementation group E

ataxia telangiectasia syndrome

boder-Sedgwick syndrome

Louis-Bar syndrome

ataxia - telangiectasia

Louis Bar syndrome

ataxia telangiectasia
definition

Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.
has_exact_synonym

ataxia telangiectasia syndrome

boder-Sedgwick syndrome

Louis-Bar syndrome

ataxia - telangiectasia

Louis Bar syndrome

ataxia telangiectasia
has_related_synonym

ataxia - telangiectasia variant

immunodeficiency with ataxia telangiectasia

AT, complementation group C

AT

AT, complementation group D

AT1

ataxia-telangiectasia

cerebello-oculocutaneous telangiectasia

AT, complementation group A

AT, complementation group E
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/5682
label

ataxia telangiectasia
prefixIRI

MONDO:0008840
prefLabel

ataxia telangiectasia
seeAlso

https://rarediseases.info.nih.gov/diseases/5862/ataxia-telangiectasia
textual definition

Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.
subClassOf

http://purl.obolibrary.org/obo/MONDO_0015131

http://purl.obolibrary.org/obo/MONDO_0019852

http://purl.obolibrary.org/obo/MONDO_0016756
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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 EFO 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 EFO 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 EFO 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