|OBO ID: DOID:0111976|
|Term Name:||immunodeficiency 9||Search Ontology:|
|Definition:||A T cell deficiency characterized by early onset of recurrent infections due to defective T-cell activation, ectodermal dysplasia, and congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in ORAI1 on chromosome 12q24.31. (2)|
|Ontology:||Human Disease (DOID:0111976)|
|is a type of:||
OTHER immunodeficiency 9 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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