lateral meningocele syndrome
Information
- Disease name
- lateral meningocele syndrome
- Disease ID
- DOID:0111343
- Description
- "A syndrome characterized by facial anomalies, hyperextensibility, hypotonia, and meningocele-related neurologic dysfunction that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25394726]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| NOTCH3 | 19 | 15,159,038 | 15,200,995 | 2 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:9873
- Cross Reference ID (Disease Ontology)
- MESH:C537878
- Cross Reference ID (Disease Ontology)
- MIM:130720
- Cross Reference ID (Disease Ontology)
- ORDO:2789
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1851710
- Exact Synonym (Disease Ontology)
- Lehman syndrome