OBO ID: DOID:12704
Term Name: ataxia telangiectasia Search Ontology:
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:
OTHER ataxia telangiectasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ATM Ataxia-telangiectasia 208900
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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