Charcot-Marie-Tooth disease type 4F

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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
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