Search Ontology:
Human Disease
immunodeficiency 7
- Term ID
- DOID:0111977
- Synonyms
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- IMD7
- immunodeficiency 7, TCR-alpha/beta deficient
- TCR-alpha-beta-positive T-cell deficiency
- Definition
- A T cell deficiency characterized by decreased or absent CD3+ T cells with TCR-alpha/beta expression, immune dysregulation, recurrent infections, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the TRAC gene on chromosome 14q11.2. https://pubmed.ncbi.nlm.nih.gov/21206088/
- References
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- MIM:615387
- ORDO:397959
- UMLS_CUI:C3809332
- Ontology
- Human Disease ( DOID:0111977 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models