Germline Mutation Abnormality

Preferred Label : Germline Mutation Abnormality;

Obsolete resource : true;

NCIt synonyms : Germline Mutation;

NCIt 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.;

NCIt note : See 'Germline Mutation(C17666)';

Concept status : Retired_Concept;

Details

Origin ID

C45587;

UMLS CUI

C1705427;

Automatic exact mappings (from CISMeF team)
- Somatic mutation [HPO term]
Currated CISMeF NLP mapping
- Germ-Line mutation [MeSH concept]
- germ-line mutation [MeSH Descriptor]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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