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Charcot-Marie-Tooth disease recessive intermediate B
Summary
- Synonym
-
- CMTRIB
- Charcot-Marie-Tooth neuropathy recessive intermediate B
- RI-CMTB
- autosomal recessive intermediate Charcot-Marie-Tooth disease type B
- Definition
- A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23.
- Super Class
- Charcot-Marie-Tooth disease intermediate type autosomal recessive disease
External Links
- Disease Ontology
- DOID:0110204
- Mondo Disease Ontology
- ORDO
- OMIM
