Search Ontology:
Human Disease
Charcot-Marie-Tooth disease type 4B2
- Term ID
- DOID:0110190
- Synonyms
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- autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2
- Charcot-Marie-Tooth neuropathy type 4B2
- CMT4B2
- Definition
- A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene. https://www.ncbi.nlm.nih.gov/pubmed/12554688
- References
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- GARD:9200
- ICD10CM:G60.0
- MESH:C535421
- MIM:604563
- ORDO:99956
- Ontology
- Human Disease ( DOID:0110190 )
- is a type of
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Genes Involved
Zebrafish Models