Immunodeficiency 66

Preferred Label : Immunodeficiency 66;

NCIt synonyms : IMD66; Neutropenia with Combined Immune Deficiency; MKL1 Deficiency; Immunodeficiency-66;

NCIt definition : An autosomal recessive combined immunodeficiency caused by mutation(s) in the MRTFA (MKL1) gene, encoding myocardin-related transcription factor A. It is characterized by neutropenia and recurrent bacterial infections in infancy.;

NCI Metathesaurus CUI : CL1640319;

Details

Origin ID

C203465;

UMLS CUI

C5394265;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immunodeficiency 66 [OMIM Phenotype]
disease_mapped_to_gene
- MRTFA Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- MRTFA Gene [NCIt concept]
- MRTFA wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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