Charcot-Marie-Tooth disease type 2E
Information
- Disease name
- Charcot-Marie-Tooth disease type 2E
- Disease ID
- DOID:0110165
- Description
- "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10841809, url:https\://www.ncbi.nlm.nih.gov/pubmed/17620486]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT05902351 | Recruiting | Natural History Study for Charcot Marie Tooth Disease | November 1, 2013 | December 31, 2029 |
- Disase is a (Disease Ontology)
- DOID:0050539
- Cross Reference ID (Disease Ontology)
- ICD10CM:G60.0
- Cross Reference ID (Disease Ontology)
- MIM:607684
- Cross Reference ID (Disease Ontology)
- ORDO:99939
- Exact Synonym (Disease Ontology)
- autosomal dominant Charcot-Marie-Tooth disease type 2E
- Exact Synonym (Disease Ontology)
- Charcot-Marie-Tooth neuropathy type 2E
- Exact Synonym (Disease Ontology)
- CMT2E