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Bloom syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008876

Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer. [ Orphanet:125 ]

Term info

database cross reference
  • GARD:0000915 (MONDO:equivalentTo)
  • UMLS:C0005859 (Orphanet:125/e)
  • SCTID:4434006 (MONDO:equivalentTo)
  • NCIT:C2903 (MONDO:equivalentTo)
  • ICD9:757.39 (MONDO:relatedTo)
  • MESH:D001816 (Orphanet:125/e)
  • OMIM:210900 (Orphanet:125/e)
  • Orphanet:125 (OMIM:210900)
  • DOID:2717 (MONDO:equivalentTo)
  • ICD10CM:Q82.2 (Orphanet:125/ntbt)
Subsets

gard_rare, ordo_disease

abbreviation
BS [ OMIM:210900 ]

abbreviation
BLM [ OMIM:210900 MONDO:Lexical ]

abbreviation
BLS [ GARD:0000915 ]

abbreviation
MGRISCE1 [ MONDO:cjm ]

closeMatch

http://purl.bioontology.org/ontology/ICD10CM/Q82.2

definition

Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C2903, http://purl.obolibrary.org/obo/Orphanet_125, http://identifiers.org/snomedct/4434006, http://linkedlifedata.com/resource/umls/id/C0005859, https://omim.org/entry/210900, http://purl.obolibrary.org/obo/DOID_2717, http://identifiers.org/mesh/D001816

has exact synonym

Bloom syndrome, Bloom-Torre-Machacek syndrome, BSyn, congenital telangiectatic erythema syndrome

has related synonym

MGRISCE1, BS, BLM, microcephaly, growth restriction, and increased sister chromatid exchange 1, growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability, BLS, congenital telangiectatic erythema

id

MONDO:0008876

seeAlso

https://rarediseases.info.nih.gov/diseases/915/bloom-syndrome