Immunodeficiency 66

Preferred Label : Immunodeficiency 66;

Symbol : IMD66;

CISMeF acronym : IMD66;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the megakaryoblastic leukemia 1 gene (MKL1, 606078.0001);

Prefixed ID : #618847;

Details

Origin ID

618847;

UMLS CUI

C5394265;

Currated CISMeF NLP mapping
- immunodeficiency 66 [DO Concept]
DO Cross reference
- immunodeficiency 66 [DO Concept]
Genes related to phenotype
- Myocardin-related transcription factor a [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Defective T cell proliferation [HPO term]
- Meningitis [HPO term]
- Otitis externa [HPO term]
- Pustule [HPO term]
- Recurrent skin infections [HPO term]
- Sepsis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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