Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

ATAXIA-TELANGIECTASIA
Synonyms

AT, COMPLEMENTATION GROUP A
ID

http://purl.bioontology.org/ontology/OMIM/208900
altLabel

AT, COMPLEMENTATION GROUP A

ATD

LOUIS-BAR SYNDROME

AT, COMPLEMENTATION GROUP D

AT1

AT, COMPLEMENTATION GROUP E

ATAXIA-TELANGIECTASIA VARIANT

ATC

ATE

AT

AT, COMPLEMENTATION GROUP C

ATA
cui

C1876175

C0004135
Gene Locus

11q22.3
Gene Symbol

ATM

AT1

ATA
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU014319

http://purl.bioontology.org/ontology/OMIM/MTHU000132

http://purl.bioontology.org/ontology/OMIM/MTHU014307

http://purl.bioontology.org/ontology/OMIM/MTHU014305

http://purl.bioontology.org/ontology/OMIM/MTHU036384

http://purl.bioontology.org/ontology/OMIM/MTHU014313

http://purl.bioontology.org/ontology/OMIM/MTHU014325

http://purl.bioontology.org/ontology/OMIM/MTHU002023

http://purl.bioontology.org/ontology/OMIM/MTHU012071

http://purl.bioontology.org/ontology/OMIM/MTHU014329

http://purl.bioontology.org/ontology/OMIM/MTHU000926

http://purl.bioontology.org/ontology/OMIM/MTHU014323

http://purl.bioontology.org/ontology/OMIM/MTHU014311

http://purl.bioontology.org/ontology/OMIM/MTHU014317

http://purl.bioontology.org/ontology/OMIM/MTHU014315

http://purl.bioontology.org/ontology/OMIM/MTHU008966

http://purl.bioontology.org/ontology/OMIM/MTHU014333

http://purl.bioontology.org/ontology/OMIM/MTHU014327

http://purl.bioontology.org/ontology/OMIM/MTHU001903

http://purl.bioontology.org/ontology/OMIM/MTHU014335

http://purl.bioontology.org/ontology/OMIM/MTHU014321

http://purl.bioontology.org/ontology/OMIM/MTHU041732

http://purl.bioontology.org/ontology/OMIM/MTHU014331

http://purl.bioontology.org/ontology/OMIM/MTHU014337

http://purl.bioontology.org/ontology/OMIM/MTHU037265

http://purl.bioontology.org/ontology/OMIM/MTHU037263

http://purl.bioontology.org/ontology/OMIM/MTHU036721

http://purl.bioontology.org/ontology/OMIM/MTHU036798

http://purl.bioontology.org/ontology/OMIM/MTHU014304

http://purl.bioontology.org/ontology/OMIM/MTHU006260

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU036363

http://purl.bioontology.org/ontology/OMIM/MTHU014322

http://purl.bioontology.org/ontology/OMIM/MTHU014318

http://purl.bioontology.org/ontology/OMIM/MTHU014316

http://purl.bioontology.org/ontology/OMIM/MTHU014314

http://purl.bioontology.org/ontology/OMIM/MTHU004684

http://purl.bioontology.org/ontology/OMIM/MTHU014332

http://purl.bioontology.org/ontology/OMIM/MTHU001772

http://purl.bioontology.org/ontology/OMIM/MTHU014328

http://purl.bioontology.org/ontology/OMIM/MTHU014320

http://purl.bioontology.org/ontology/OMIM/MTHU014326

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU014324

http://purl.bioontology.org/ontology/OMIM/MTHU014312

http://purl.bioontology.org/ontology/OMIM/MTHU014330

http://purl.bioontology.org/ontology/OMIM/MTHU014336

http://purl.bioontology.org/ontology/OMIM/MTHU037264

http://purl.bioontology.org/ontology/OMIM/MTHU037262
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

208905
notation

208900
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

ATAXIA-TELANGIECTASIA
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C566865 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D001260 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D001260 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0004135 MedlinePlus Health Topics CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0004135 MedlinePlus Health Topics LOOM
http://purl.obolibrary.org/obo/DOID_12704 Human Disease Ontology 123 LOOM