ZFIN Human Disease: immunodeficiency 66

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 the MKL1 gene on chromosome 22q13.1-q13.2. https://pubmed.ncbi.nlm.nih.gov/26224645/
References:	OMIM:618847
Ontology:	Human Disease ( DOID:0111998 )

Relationships

is a type of:	autosomal recessive disease primary immunodeficiency disease autosomal recessive disease primary immunodeficiency disease Show first 5 Terms

OTHER immunodeficiency 66 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MRTFA	mrtfaa mrtfab	?Immunodeficiency 66	618847

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None