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About:
Nijmegen Breakage Syndrome
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Attributes
Values
label
nijmegen breakage syndrome
COEXISTS_WITH
Primary immune deficiency disorder
Autosome Disorders
schema:identifier
c0398791
ISA
Disease
Malignant Neoplasms
Hereditary Diseases
Immunologic Deficiency Syndromes
Ataxia Telangiectasia
Combined immunity deficiency NOS
Congenital chromosomal disease
Autosomal recessive hereditary disorder
DNA Repair-Deficiency
CAUSES
Chromosome Instability Syndromes
treatment complications
PROCESS_OF
C0030705
Family
Human
Child
Individual
Animal Model
Girls
Boys
AFFECTS
Leukemia, Lymphocytic, Acute, L1
PREDISPOSES
Malignant Neoplasms
Malignant lymphoid neoplasm
lymphatic cancer
PRECEDES
Malignant Neoplasms
MANIFESTATION_OF
DNA Repair
is
LOCATION_OF
of
8q21
is
COEXISTS_WITH
of
Malignant Neoplasms
Oxidative Stress
Chromosomal Instability
Microcephaly
Genomic Instability
Growth retardation
Polyarthritis
Immunologic Deficiency Syndromes
Ataxia Telangiectasia
Hodgkin Disease
Malignant lymphoid neoplasm
Speech impairment
is
ASSOCIATED_WITH
of
Genes
Proteins
Wound Healing
Protein complex
NBS1 gene|NBN|NLRP2
Predisposition
Cell phenotype
Radiation Tolerance
is
DIAGNOSES
of
Magnetic Resonance Imaging
genetic analysis
is
CAUSES
of
Genes
Mutation
Alternative Splicing
Transcript
Inactivation
DNA Double Strand Break
NBS1 gene|NBN|NLRP2
Founder Effect
NBN|NLRP2
is
TREATS
of
Hematopoietic Stem Cell Transplantation
Mitogens
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