schwannomatosis 2
Information
- Disease name
- schwannomatosis 2
- Disease ID
- DOID:0070481
- Description
- "A schwannomatosis that has_material_basis_in germline heterozygous mutation in the LZTR1 gene on chromosome 22q11.2." [url:https\://pubmed.ncbi.nlm.nih.gov/24362817/, url:https\://pubmed.ncbi.nlm.nih.gov/35674741/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:3204
- Cross Reference ID (Disease Ontology)
- MIM:615670
- Cross Reference ID (Disease Ontology)
- NCI:C186704
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C5670708
- Exact Synonym (Disease Ontology)
- LZTR1-related schwannomatosis
- Exact Synonym (Disease Ontology)
- SWN2
- Disase Synonym (Disease Ontology)
- neurofibromatosis 3