OBO ID: DOID:0111976 |
Term Name: | immunodeficiency 9 | Search Ontology: | |
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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 the ORAI1 gene, which encodes a subunit of the plasma membrane calcium channel CRAC, on chromosome 12q24.31. (2) | ||
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Ontology: | Human Disease ( DOID:0111976 ) |
OTHER immunodeficiency 9 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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