tuberous sclerosis 2
Information
- Disease name
- tuberous sclerosis 2
- Disease ID
- DOID:0080325
- Description
- "A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TSC2 gene, which encodes tuberin, on chromosome 16p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28667702, url:https\://www.omim.org/entry/613254]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03655223 | Enrolling by invitation | Early Check: Expanded Screening in Newborns | October 15, 2018 | December 31, 2025 |
- Disase is a (Disease Ontology)
- DOID:13515
- Cross Reference ID (Disease Ontology)
- MESH:C566021
- Cross Reference ID (Disease Ontology)
- MIM:613254
- MedGen concept unique identifier (MedGen Concept name)
- C1860707
- MedGen unique identifier (MedGen Concept name)
- 348170