OBO ID: DOID:0110171
Term Name: Charcot-Marie-Tooth disease axonal type 2S Search Ontology:
Synonyms: autosomal recessive axonal Charcot-Marie-Tooth type 2S, Charcot-Marie-Tooth disease type 2S, Charcot-Marie-Tooth neuropathy type 2S (all 4) expand
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.http://www.ncbi.nlm.nih.gov/pubmed/?term=25439726
References: OMIM:616155, ORDO:443073
Ontology: Human Disease   (DOID:0110171)
Relationships
is a type of:
OTHER Charcot-Marie-Tooth disease axonal type 2S PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IGHMBP2 ighmbp2 Charcot-Marie-Tooth disease, axonal, type 2S 616155
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None