| Metadata | |
|---|---|
| ID | DOID:13515 |
| Name | tuberous sclerosis |
| Definition | A hamartoma syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body. https://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex#synonyms |
| Xrefs |
SNOMEDCT_US_2023_03_01:157033002 |
| Subsets |
DO_cancer_slim DO_FlyBase_slim DO_rare_slim NCIthesaurus |
| Synonyms |
Bourneville's disease [EXACT] cerebral sclerosis [EXACT] Epiloia [EXACT] Tuberose sclerosis [EXACT] Tuberous sclerosis complex [EXACT] Tuberous sclerosis syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a hamartoma syndrome |
| Subclass Logical Relationships |
has material basis in some (loss_of_function_variant and disease has location min 1 (gene)) has material basis in some autosomal dominant inheritance disease has feature some hamartoma |