Charcot-Marie-Tooth disease X-linked dominant 1
Information
- Disease name
- Charcot-Marie-Tooth disease X-linked dominant 1
- Disease ID
- DOID:0110209
- Description
- "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8266101]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0050542
- Cross Reference ID (Disease Ontology)
- ICD10CM:G60.0
- Cross Reference ID (Disease Ontology)
- MIM:302800
- Cross Reference ID (Disease Ontology)
- ORDO:101075
- Exact Synonym (Disease Ontology)
- Charcot-Marie-Tooth neuropathy X-linked dominant 1
- Exact Synonym (Disease Ontology)
- CMT1X
- Exact Synonym (Disease Ontology)
- CMTX1
- Exact Synonym (Disease Ontology)
- X-linked Charcot-Marie-Tooth disease type 1