Search Ontology:
Human Disease
Charcot-Marie-Tooth disease dominant intermediate E
- Term ID
- DOID:0110205
- Synonyms
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- autosomal dominant intermediate Charcot-Marie-Tooth disease type E
- Charcot-Marie-Tooth disease-nephropathy syndrome
- Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis
- CMTDIE
- Definition
- A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32. https://www.ncbi.nlm.nih.gov/pubmed/22187985
- References
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- ICD10CM:G60.0
- MIM:614455
- ORDO:93114
- Ontology
- Human Disease ( DOID:0110205 )
- is a type of
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Genes Involved
Zebrafish Models