OBO ID: DOID:0111998
Term Name: immunodeficiency 66 Search Ontology:
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 MKL1 on chromosome 22q13.1-q13.2. https://pubmed.ncbi.nlm.nih.gov/26224645/
References:
Ontology: Human Disease   (DOID:0111998)
OTHER immunodeficiency 66 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MRTFA ?Immunodeficiency 66 618847
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None