OBO ID: DOID:0111977
Term Name: immunodeficiency 7 Search Ontology:
Synonyms:
  • 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 TRAC on chromosome 14q11.2. https://pubmed.ncbi.nlm.nih.gov/21206088/
References:
Ontology: Human Disease   (DOID:0111977)
OTHER immunodeficiency 7 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TRAC Immunodeficiency 7, TCR-alpha/beta deficient 615387
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None