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

• GARD:5862
• MESH:D001260
• NCI:C2887
• OMIM:208900
• SNOMEDCT_US_2023_03_01:68504005
• UMLS_CUI:C0004135

Ontology

Human Disease   ( DOID:12704 )