Charcot-Marie-Tooth disease type 4F
Information
- Disease name
- Charcot-Marie-Tooth disease type 4F
- Disease ID
- DOID:0110193
- Description
- "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the periaxin gene (PRX) on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11157804]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes | Mutation | Description | Source | Links |
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- Disase is a (Disease Ontology)
- DOID:0050541
- Cross Reference ID (Disease Ontology)
- ICD10CM:G60.0
- Cross Reference ID (Disease Ontology)
- MIM:614895
- Cross Reference ID (Disease Ontology)
- ORDO:99952
- Exact Synonym (Disease Ontology)
- CMT4F
- OrphaNumber from OrphaNet (Orphanet)
- 99952