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Warsaw breakage syndrome

^ http://purl.obolibrary.org/obo/MONDO_0013252

A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It has material basis in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11. [ PMID:20137776 PMID:26089203 PMID:21490908 DOID:0060535 PMID:23033317 ]

Term info

database cross reference
  • OMIM:613398 (Orphanet:280558/e)
  • ICD9:759.89 (MONDO:relatedTo)
  • UMLS:C3150658 (OMIM:613398)
  • Orphanet:280558 (OMIM:613398)
  • SCTID:702829000 (MONDO:equivalentTo)
  • DOID:0060535 (MONDO:equivalentTo)
  • NCIT:C164675 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

abbreviation
WABS [ MONDO:Lexical Orphanet:280558 DOID:0060535 OMIM:613398 ]

definition

A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It has material basis in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11.

exactMatch

http://linkedlifedata.com/resource/umls/id/C3150658, http://purl.obolibrary.org/obo/Orphanet_280558, https://omim.org/entry/613398, http://identifiers.org/snomedct/702829000, http://purl.obolibrary.org/obo/NCIT_C164675, http://purl.obolibrary.org/obo/DOID_0060535

has exact synonym

Warsaw breakage syndrome, WABS

has related synonym

WARSAW breakage syndrome

id

MONDO:0013252