loading...| Preferred Name | ataxia telangiectasia | |
| Synonyms |
Louis Bar syndrome Boder-Sedgwick syndrome |
|
| Definitions |
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. OMIM mapping confirmed by DO. [SN]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_12704 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| database_cross_reference |
SNOMEDCT_US_2023_03_01:68504005 UMLS_CUI:C0004135 MESH:D001260 GARD:5862 MIM:208900 NCI:C2887 |
|
| 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. |
|
| has exact match |
MESH:D001260 |
|
| has exact synonym |
Louis Bar syndrome Boder-Sedgwick syndrome |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:12704 |
|
| in_subset |
http://purl.obolibrary.org/obo/doid#NCIthesaurus |
|
| label |
ataxia telangiectasia |
|
| notation |
DOID:12704 |
|
| prefLabel |
ataxia telangiectasia |
|
| subClassOf |