Term Name: Charcot-Marie-Tooth disease dominant intermediate E
Synonyms: autosomal dominant intermediate Charcot-Marie-Tooth disease type E, Charcot-Marie-Tooth disease-nephropathy syndrome, Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis, CMTDIE
Definition: A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32.
Ontology: Human Disease [DOID:0110205]   ( DOID:0110205 )

Relationships
is a type of: autosomal dominant disease Charcot-Marie-Tooth disease intermediate type