Term Name: | Charcot-Marie-Tooth disease dominant intermediate F |
---|---|
Synonyms: | autosomal dominant intermediate Charcot-Marie-Tooth disease type F, CMTDIF |
Definition: | A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the GNB4 gene on chromosome 3q28. |
Ontology: | Human Disease [DOID:0110206] ( DOID:0110206 ) |