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Metadata
ID DOID:0110205
Name Charcot-Marie-Tooth disease dominant intermediate E
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
Xrefs

ICD10CM:G60.0

OMIM:614455

ORDO:93114

Subsets

DO_rare_slim

Synonyms

autosomal dominant intermediate Charcot-Marie-Tooth disease type E [EXACT]

Charcot-Marie-Tooth disease-nephropathy syndrome [EXACT]

Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis [EXACT]

CMTDIE [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a Charcot-Marie-Tooth disease intermediate type

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