Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

NIJMEGEN BREAKAGE SYNDROME
Synonyms

AT-V1

NONSYNDROMAL MICROCEPHALY, AUTOSOMAL RECESSIVE, WITH NORMAL INTELLIGENCE

BERLIN BREAKAGE SYNDROME

MICROCEPHALY WITH NORMAL INTELLIGENCE, IMMUNODEFICIENCY, AND LYMPHORETICULAR MALIGNANCIES

ATAXIA-TELANGIECTASIA VARIANT V2

AT-V2

BBS

NBS

IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY

SEEMANOVA SYNDROME II

ATAXIA-TELANGIECTASIA VARIANT V1
ID

http://purl.bioontology.org/ontology/OMIM/251260
altLabel

AT-V1

NONSYNDROMAL MICROCEPHALY, AUTOSOMAL RECESSIVE, WITH NORMAL INTELLIGENCE

BERLIN BREAKAGE SYNDROME

MICROCEPHALY WITH NORMAL INTELLIGENCE, IMMUNODEFICIENCY, AND LYMPHORETICULAR MALIGNANCIES

ATAXIA-TELANGIECTASIA VARIANT V2

AT-V2

BBS

NBS

IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY

SEEMANOVA SYNDROME II

ATAXIA-TELANGIECTASIA VARIANT V1
cui

C1855057

C0398791
Gene Locus

8q21
Gene Symbol

NBS1

NBN
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU037282

http://purl.bioontology.org/ontology/OMIM/MTHU000511

http://purl.bioontology.org/ontology/OMIM/MTHU002424

http://purl.bioontology.org/ontology/OMIM/MTHU011470

http://purl.bioontology.org/ontology/OMIM/MTHU011456

http://purl.bioontology.org/ontology/OMIM/MTHU005996

http://purl.bioontology.org/ontology/OMIM/MTHU010521

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU011462

http://purl.bioontology.org/ontology/OMIM/MTHU008963

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU011466

http://purl.bioontology.org/ontology/OMIM/MTHU007429

http://purl.bioontology.org/ontology/OMIM/MTHU011457

http://purl.bioontology.org/ontology/OMIM/MTHU005779

http://purl.bioontology.org/ontology/OMIM/MTHU011467

http://purl.bioontology.org/ontology/OMIM/MTHU007383

http://purl.bioontology.org/ontology/OMIM/MTHU011468

http://purl.bioontology.org/ontology/OMIM/MTHU011460

http://purl.bioontology.org/ontology/OMIM/MTHU005462

http://purl.bioontology.org/ontology/OMIM/MTHU011454

http://purl.bioontology.org/ontology/OMIM/MTHU011464

http://purl.bioontology.org/ontology/OMIM/MTHU036343

http://purl.bioontology.org/ontology/OMIM/MTHU011461

http://purl.bioontology.org/ontology/OMIM/MTHU007448

http://purl.bioontology.org/ontology/OMIM/MTHU011459

http://purl.bioontology.org/ontology/OMIM/MTHU036653

http://purl.bioontology.org/ontology/OMIM/MTHU011465

http://purl.bioontology.org/ontology/OMIM/MTHU000090

http://purl.bioontology.org/ontology/OMIM/MTHU000554

http://purl.bioontology.org/ontology/OMIM/MTHU001611

http://purl.bioontology.org/ontology/OMIM/MTHU011455

http://purl.bioontology.org/ontology/OMIM/MTHU003464

http://purl.bioontology.org/ontology/OMIM/MTHU011469

http://purl.bioontology.org/ontology/OMIM/MTHU008968

http://purl.bioontology.org/ontology/OMIM/MTHU011463

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

http://purl.bioontology.org/ontology/OMIM/MTHU004922

http://purl.bioontology.org/ontology/OMIM/MTHU007930

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

http://purl.bioontology.org/ontology/OMIM/MTHU001437

http://purl.bioontology.org/ontology/OMIM/MTHU042039

http://purl.bioontology.org/ontology/OMIM/MTHU011458

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

http://purl.bioontology.org/ontology/OMIM/MTHU042038
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

600885
notation

251260
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

NIJMEGEN BREAKAGE SYNDROME
Scope Statement

Spontaneous chromosomal instability with multiple rearrangements, especially chromosome 7 and 14 [MISCELLANEOUS]

Radioresistant DNA synthesis [MISCELLANEOUS]

Caused by mutations in the Nijmegen breakage syndrome gene (NBS1, 602667.0001) [MOLECULAR BASIS]

Premature death [MISCELLANEOUS]

Chromosomal hypersensitivity to ionizing radiation and alkylating agents [MISCELLANEOUS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C565380 MESH CUI
http://purl.bioontology.org/ontology/MESH/D049932 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10067857 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10067857 MDRGER CUI
http://purl.bioontology.org/ontology/NDFRT/N0000171677 NDFRT CUI
http://purl.bioontology.org/ontology/MSHFRE/D049932 MSHFRE CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000725398 PDQ CUI
http://purl.bioontology.org/ontology/CSP/5005-0018 CRISP CUI
http://purl.bioontology.org/ontology/MDRFRE/10067857 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/234638009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/X20Ie RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/234638009 SCTSPA CUI
http://purl.obolibrary.org/obo/MONDO_0009623 MONDO LOOM
http://nanbyodata.jp/ontology/NANDO_2200706 NANDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.284.600 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0024248 OMIT LOOM
http://purl.obolibrary.org/obo/OMIM_251260 CCO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_2823 HRDO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_7400 NATPRO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038519 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/MESH/D049932 MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10067857 MEDDRA LOOM
http://purl.obolibrary.org/obo/DOID_7400 DTO LOOM
http://purl.obolibrary.org/obo/DOID_7400 DOID LOOM
http://purl.obolibrary.org/obo/DOID_7400 BAO LOOM
http://purl.obolibrary.org/obo/DOID_7400 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_7400 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_7400 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_7400 FNS-H LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C4692 NCIT LOOM
rgo:27236 GAMUTS LOOM
http://www.orpha.net/ORDO/Orphanet_647 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D049932 RH-MESH LOOM
http://nanbyodata.jp/ontology/NANDO_1200332 NANDO LOOM
http://id.nlm.nih.gov/mesh/D049932 MDM LOOM
http://purl.obolibrary.org/obo/MONDO_0009623 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0009623 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0009623 DOVES LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000725398 PDQ LOOM
http://purl.bioontology.org/ontology/CSP/5005-0018 CRISP LOOM
http://purl.obolibrary.org/obo/NCIT_C4692 BERO LOOM
http://purl.jp/bio/4/id/200906056714236689 IOBC LOOM
http://identifiers.org/omim/251260 REXO LOOM
http://identifiers.org/omim/251260 GEXO LOOM
http://identifiers.org/omim/251260 RETO LOOM