Search Ontology:
Human Disease
Charcot-Marie-Tooth disease axonal type 2S
- Term ID
- DOID:0110171
- Synonyms
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- autosomal recessive axonal Charcot-Marie-Tooth type 2S
- Charcot-Marie-Tooth disease type 2S
- Charcot-Marie-Tooth neuropathy type 2S
- CMT2S
- 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. https://www.ncbi.nlm.nih.gov/pubmed/25439726
- References
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- MIM:616155
- ORDO:443073
- Ontology
- Human Disease ( DOID:0110171 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models