Term Name: | Charcot-Marie-Tooth disease recessive intermediate A |
---|---|
Synonyms: | autosomal recessive intermediate Charcot-Marie-Tooth disease type A, Charcot-Marie-Tooth neuropathy recessive intermediate A, CMTRIA, RI-CMTA |
Definition: | A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21. |
Ontology: | Human Disease [DOID:0110201] ( DOID:0110201 ) |