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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/251260
http://purl.bioontology.org/ontology/OMIM/251260
|
|---|---|
| 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
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|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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
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|
|---|---|
| prefLabel | NIJMEGEN BREAKAGE SYNDROME
|
| Gene Symbol |
NBS1
NBN
|
| 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]
|
| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 8q21
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 251260
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C1855057
C0398791
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| Moved from | 600885
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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