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Metadata
ID DOID:0111998
Name immunodeficiency 66
Definition A primary immunodeficiency disease characterized by onset in infancy of recurrent bacterial infections and defective immune cell migration and chemotaxis primarily in neutrophils although other cell types may also be affected that has_material_basis_in homozygous or compound heterozygous mutation in the MKL1 gene on chromosome 22q13.1-q13.2.
https://pubmed.ncbi.nlm.nih.gov/26224645/
Xrefs

MIM:618847

Synonyms

IMD66 [EXACT]

Parent Relationships

is_a primary immunodeficiency disease

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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