Term Name: Charcot-Marie-Tooth disease type 4D
Synonyms: autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth neuropathy type 4D, CMT4D, hereditary motor and sensory neuropathy LOM type, HMSN Lom type, HMSN-Lom, HMSN4D, HMSNL
Definition: A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24.
Ontology: Human Disease [DOID:0110186]   ( DOID:0110186 )

Relationships
is a type of: autosomal recessive disease Charcot-Marie-Tooth disease type 4