Noonan syndrome 2
Information
- Disease name
- Noonan syndrome 2
- Disease ID
- DOID:0060580
- Description
- "A Noonan syndrome characterized by hypertrophic obstructive cardiomyopathy and that has_material_basis_in homozygous or compound heterozygous mutation in the LZTR1 gene on chromosome 22q11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/5782826]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:3490
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q87.1
- Cross Reference ID (Disease Ontology)
- MESH:C548081
- Cross Reference ID (Disease Ontology)
- MIM:605275
- Exact Synonym (Disease Ontology)
- NS2