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Metadata
DOID DOID:7400
Name Nijmegen breakage syndrome
Synonyms

Berlin breakage syndrome [EXACT]

Microcephaly, normal intelligence and immunodeficiency [EXACT]

Seemanova syndrome [EXACT]

Xrefs

CSP2005:5005-0018

GARD:3904

MESH:D049932

NCI:C4692

OMIM:251260

UMLS_CUI:C0398791

Subsets

NCIthesaurus

Relationships

is_a autosomal recessive disease

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