About: Germline Mutation Abnormality     Goto   Sponge   Distinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Germline Mutation Abnormality
rdfs:subClassOf
Semantic_Type
  • Cell or Molecular Dysfunction
Preferred_Name
  • Germline Mutation Abnormality
UMLS_CUI
  • C1705427
Legacy_Concept_Name
  • Germline_Mutation_Abnormality
FULL_SYN
  • Germline MutationSYNCI
  • Germline Mutation AbnormalityPTNCI
DEFINITION
  • A mutation in the genomic DNA of reproductive cells (egg or sperm) that is retained during meiosis, mitosis, and cell differentiation. Ultimately, the mutation is present in every cell in the body of the offspring.NCI
code
  • C45587
is rdfs:subClassOf of
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