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bn:03077212n
Noun Concept
Categories: Syndromes affecting stature, Autosomal recessive disorders, DNA replication and repair-deficiency disorders, Rare syndromes, IUIS-PID table 3 immunodeficiencies
EN
Nijmegen breakage syndrome  Microcephaly, normal intelligence and immunodeficiency  AT V1  Ataxia-telangiectasia, variant 1  Ataxia-Telangiectasia Variant V1
EN
Nijmegen breakage syndrome is a rare autosomal recessive congenital disorder causing chromosomal instability, probably as a result of a defect in the double Holliday junction DNA repair mechanism and/or the synthesis dependent strand annealing mechanism for repairing double strand breaks in DNA. Wikipedia
Definitions
Relations
Sources
EN
Nijmegen breakage syndrome is a rare autosomal recessive congenital disorder causing chromosomal instability, probably as a result of a defect in the double Holliday junction DNA repair mechanism and/or the synthesis dependent strand annealing mechanism for repairing double strand breaks in DNA. Wikipedia
A genetic medical condition Wikipedia Disambiguation
Human disease Wikidata
IS A
rare disease
syndrome
inherited tumor
autosomal recessive disease
GENETIC ASSOCIATION
nibrin
HEALTH SPECIALTY
endocrinology
NAMED AFTER
Nijmegen
Wikipedia
EN
Nijmegen breakage syndrome
Wikidata
EN
Nijmegen breakage syndrome
Wikipedia Redirections
EN
Ataxia telangiectasia variant V1, Berlin Breakage syndrome, Berlin breakage syndrome, Berlin syndrome, Nijmegen Breakage Syndrome, Seemanova syndrome
Wikidata Alias
EN
AT V1, Ataxia-telangiectasia, variant 1, Ataxia-Telangiectasia Variant V1, Ataxia-Telangiectasia Variant V2, Berlin breakage syndrome, Immunodeficiency, Microcephaly, and Chromosomal Instability, Immunodeficiency-microcephaly-chromosomal instability syndrome, Microcephaly, normal intelligence and immunodeficiency, Microcephaly-immunodeficiency-lymphoreticuloma syndrome, Microcephaly immunodeficiency lymphoreticuloma, Microcephaly With Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancies, Microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies, NBS, NIJMEGEN BREAKAGE SYNDROME, Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence, Nonsyndromal microcephaly autosomal recessive with normal intelligence, Seemanova syndrome, Seemanova Syndrome 2, Seemanova syndrome type 2, ataxia telangiectasia variant 1 (AT-V1)

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