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DO Term : ataxia telangiectasia [DOID:12704] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22.
  • synonyms:
  • GARD:5862,
  • UMLS_CUI:C0004135,
  • Boder-Sedgwick syndrome,
  • SNOMEDCT_US_2023_03_01:68504005,
  • MESH:D001260,
  • Louis Bar syndrome,
  • 208900,
  • NCI:C2887,
  • OMIM:208900
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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