Search Ontology:
Human Disease

Charcot-Marie-Tooth disease type 4B1

Term ID
DOID:0110191
Synonyms
  • autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1
  • Charcot-Marie-Tooth neuropathy type 4B1
  • CMT4B1
Definition
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2). https://www.ncbi.nlm.nih.gov/pubmed/10802647
References
(all 4)
Ontology
Human Disease   ( DOID:0110191 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Human Gene Zebrafish Ortholog OMIM Term Disease OMIM Phenotype ID
MTMR2Charcot-Marie-Tooth disease, type 4B1Charcot-Marie-Tooth disease type 4B1601382
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Zebrafish Models
No data available
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