Search Ontology:
Human Disease

Charcot-Marie-Tooth disease type 2B

Term ID
DOID:0110159
Synonyms
  • autosomal dominant Charcot-Marie-Tooth disease type 2B
  • Charcot-Marie-Tooth neuropathy type 2B
  • CMT2B
  • hereditary motor and sensory nueropathy IIB
  • HMSN IIB
  • HMSN2B
Definition
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21. https://www.ncbi.nlm.nih.gov/pubmed/12545426
References
Ontology
Human Disease   ( DOID:0110159 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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