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Charcot-Marie-Tooth disease dominant intermediate E
Summary
- Synonym
-
- CMTDIE
- Charcot-Marie-Tooth disease-nephropathy syndrome
- Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis
- autosomal dominant intermediate Charcot-Marie-Tooth disease type E
- Definition
- A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32.
- Super Class
- Charcot-Marie-Tooth disease intermediate type autosomal dominant disease
External Links
- Disease Ontology
- DOID:0110205
- Mondo Disease Ontology
- ORDO
- OMIM
