Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0110186 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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