Search Ontology:
Human Disease

immunodeficiency 66

Term ID
DOID:0111998
Synonyms
  • IMD66
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/
References
Ontology
Human Disease   ( DOID:0111998 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models