Myeloperoxidase deficiency

Preferred Label : Myeloperoxidase deficiency;

Symbol : MPOD;

CISMeF acronym : MPOD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mpo deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the myeloperoxidase gene (MPO, 606989.0001).;

Laboratory abnormalities : Absence of peroxidase staining in neutrophils and monocytes; Normal eosinophil peroxidase activity;

Prefixed ID : #254600;

Details

Origin ID

254600;

UMLS CUI

C0398595;

Automatic exact mappings (from CISMeF team)
- Inactivating MPO Gene Mutation [NCIt concept]
Currated CISMeF NLP mapping
- Myeloperoxidase deficiency [ICD-11 More detail]
- Myeloperoxidase deficiency [MedDRA Preferred Term]
- Myeloperoxidase deficiency [ORDO Disease]
- Myeloperoxidase deficiency (disorder) [SNOMED CT concept]
- myeloperoxidase deficiency [MeSH concept]
- myeloperoxidase deficiency [MeSH Supplementary Concept]
Genes related to phenotype
- Myeloperoxidase [OMIM gene]
HPO term(s)
- Abnormality of blood and blood-forming tissues [HPO term]
- Abnormality of metabolism/homeostasis [HPO term]
- Abnormality of the immune system [HPO term]
- Autosomal recessive inheritance [HPO term]
ORDO concept(s)
- Myeloperoxidase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Myeloperoxidase deficiency [ORDO Disease]
- Myeloperoxidase deficiency [MedDRA Preferred Term]
- Myeloperoxidase deficiency [ICD-11 More detail]
- Myeloperoxidase deficiency (disorder) [SNOMED CT concept]
- Myeloperoxidase deficiency syndrome (disorder) [SNOMED CT concept]
- myeloperoxidase deficiency [MeSH Supplementary Concept]
- myeloperoxidase deficiency [MeSH concept]

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