OBO ID: DOID:12704 |
Term Name: | ataxia telangiectasia | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:12704 ) |
OTHER ataxia telangiectasia PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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