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Charcot-Marie-Tooth disease axonal type 2O
Summary
- Synonym
-
- Charcot-Marie-Tooth neuropathy axonal type 2O
- autosomal dominant Charcot-Marie-Tooth disease type 2O
- autosomal dominant axonal Charcot-Marie-Tooth disease type 2O
- Definition
- A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.
- Super Class
- Charcot-Marie-Tooth disease type 2 autosomal dominant disease
External Links
- Disease Ontology
- DOID:0110175
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
