loading...| Preferred Name |
ataxia telangiectasia |
| Synonyms |
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 |
OMIM:208900 SNOMEDCT_US_2020_03_01:68504005 NCI:C2887 GARD:5862 MESH:D001260 UMLS_CUI:C0004135 |
| has exact match |
MESH:D001260 |
| has exact synonym |
Boder-Sedgwick syndrome Louis Bar syndrome |
| id |
DOID:12704 |
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim |
| label |
ataxia telangiectasia |
| notation |
DOID:12704 |
| prefLabel |
ataxia telangiectasia |
| textual 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. |
| 引自 | |
| 有_obo_命名空间 |
disease_ontology |
| subClassOf |