OBO ID: DOID:0110159
Term Name: Charcot-Marie-Tooth disease type 2B Search Ontology:
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 Charcot-Marie-Tooth disease type 2B PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RAB7A Charcot-Marie-Tooth disease, type 2B 600882
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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