Terminology Service for NFDI4Health

BLM Gene Mutation

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A change in the nucleotide sequence of the BLM gene. [ ]

Term info

Label

BLM Gene Mutation

Synonyms
  • BLM Gene Mutation
  • BS Gene Mutation
  • Bloom Syndrome Gene Mutation
  • RECQ2 Gene Mutation
  • RECQL2 Gene Mutation
  • RECQL3 Gene Mutation
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

Display Name

BLM Gene Mutation

Legacy Concept Name

BLM_Gene_Mutation

Preferred Name

BLM Gene Mutation

Semantic Type

Cell or Molecular Dysfunction

UMLS CUI

C1706890

code

C43287