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Nijmegen breakage syndrome-like disorder

^ http://purl.obolibrary.org/obo/MONDO_0013118

Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly. [ Orphanet:240760 ]

Term info

database cross reference
  • MESH:C567767 (MONDO:equivalentTo)
  • SCTID:766753005 (MONDO:equivalentTo)
  • OMIM:613078 (Orphanet:240760/e)
  • UMLS:C2751318 (Orphanet:240760)
  • Orphanet:240760 (OMIM:613078)
  • NCIT:C153178 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

abbreviation
NBSLD [ OMIM:613078 Orphanet:240760 MONDO:Lexical ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5347

definition

Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.

exactMatch

https://omim.org/entry/613078, http://identifiers.org/snomedct/766753005, http://purl.obolibrary.org/obo/Orphanet_240760, http://purl.obolibrary.org/obo/NCIT_C153178, http://identifiers.org/mesh/C567767, http://linkedlifedata.com/resource/umls/id/C2751318

has exact synonym

RAD50 deficiency, NBs-like disorder, Nijmegen breakage syndrome-like disorder, microcephaly and chromosomal instability without immunodeficiency, NBSLD

has related synonym

Rad50 deficiency, microcephaly and spontaneous chromosome instability without immunodeficiency

id

MONDO:0013118