Charcot-Marie-Tooth disease type 4D

Term ID

DOID:0110186

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. https://www.ncbi.nlm.nih.gov/pubmed/10831399

References

• ICD10CM:G60.0
• OMIM:601455
• ORDO:99950

Ontology

Human Disease   ( DOID:0110186 )