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Charcot-Marie-Tooth disease axonal type 2K
Summary
- Synonym
-
- ARCMT2K
- Charcot-Marie-Tooth neuropathy axonal type 2K
- autosomal recessive Charcot-Marie-Tooth disease with hoarseness
- autosomal recessive axonal CMT4C4
- autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K
- autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
- Definition
- A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q.
- Super Class
- Charcot-Marie-Tooth disease type 2 autosomal dominant disease autosomal recessive disease
External Links
- Disease Ontology
- DOID:0110167
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
