Search Ontology:
Human Disease
Charcot-Marie-Tooth disease type 4B3
- Term ID
- DOID:0110194
- Synonyms
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- CMT4B3
- Definition
- A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q. https://www.ncbi.nlm.nih.gov/pubmed/23749797
- References
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- ICD10CM:G60.0
- MIM:615284
- ORDO:363981
- Ontology
- Human Disease ( DOID:0110194 )
- is a type of
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