Term Name: | Charcot-Marie-Tooth disease type 4D |
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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 ) |