Inactivating MPO Gene Mutation

Preferred Label : Inactivating MPO Gene Mutation;

NCIt synonyms : MPO Loss of Function Gene Mutation; MPO Deficient; MPO Loss of Function Mutation; MPO Gene Inactivation; Inactivating Myeloperoxidase Gene Mutation; MPO Loss of Function; MPO Inactivating Gene Mutation; MPO Deficiency; MPO Inactivating Mutation; Inactivating MPO Mutation;

NCIt definition : A change in the nucleotide sequence of the MPO gene that either inhibits expression or results in the translation of an inactive myeloperoxidase protein.;

NCI Metathesaurus CUI : CL1663137;

Details

Origin ID

C179372;

UMLS CUI

C5552989;

Automatic exact mappings (from CISMeF team)
- Myeloperoxidase deficiency [ORDO Disease]
- Myeloperoxidase deficiency [OMIM Phenotype]
- myeloperoxidase deficiency [MeSH Supplementary Concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- MPO Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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