Search Ontology:
Human Disease

ataxia telangiectasia

Term ID
DOID:12704
Synonyms
  • Boder-Sedgwick syndrome
  • Louis Bar syndrome
Definition
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. https://ghr.nlm.nih.gov/condition/ataxia-telangiectasia
References
Ontology
Human Disease   ( DOID:12704 )
Relationships
is a type of
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Genes Involved
Zebrafish Models