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DO Term : immunodeficiency 52 [DOID:0111983] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2.
  • synonyms:
  • SNOMEDCT_US_2023_03_01:1179284005,
  • OMIM:617514,
  • severe combined immunodeficiency due to LAT deficiency,
  • UMLS_CUI:C4479588,
  • IMD52,
  • 617514,
  • ORDO:504523
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents