Disease #01671 (AT (ataxia-telangiectasia (AT)), OMIM:208900)
| Official abbreviation |
AT |
| Name |
ataxia-telangiectasia (AT) |
| OMIM ID |
208900 |
| Human Phenotype Ontology Project (HPO) |
HPO |
| Inheritance |
Autosomal recessive |
| Individuals reported having this disease |
1209 |
| Phenotype entries for this disease |
295 |
| Associated with 1 gene |
ATM |
| Associated tissues |
- |
| Disease features |
autosomal recessive disorder characterized by cerebellar ataxia, telangiectases, immune defects, predisposition to malignancy, chromosomal breakag; AT cells are abnormally sensitive to killing by ionizing radiation (IR), abnormally resistant to inhibition of DNA synthesis by ionizing radiation |
| Remarks |
- |
| Date created |
2014-09-25 23:29:40 +02:00 (CEST) |
| Date last edited |
2021-12-10 21:51:32 +01:00 (CET) |
Individuals
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