OBO ID: DOID:0110186
Term Name: Charcot-Marie-Tooth disease type 4D Search Ontology:
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)
OTHER Charcot-Marie-Tooth disease type 4D PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NDRG1 Charcot-Marie-Tooth disease, type 4D 601455
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None