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Metadata
ID DOID:0111557
Name Charcot-Marie-Tooth disease type 2A2B
Definition A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in the MFN2 gene on chromosome 1p36.22.
https://www.ncbi.nlm.nih.gov/pubmed/21715711
Xrefs

OMIM:617087

ORDO:90118

Subsets

DO_rare_slim

Synonyms

AR-CMT2, Ouvrier type [EXACT]

autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type [EXACT]

Charcot-Marie-Tooth disease, axonal, type 2A2B [EXACT]

CMT2A2B [EXACT]

SEOAN due to MFN2 deficiency [EXACT]

severe early-onset axonal neuropathy due to MFN2 deficiency [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a Charcot-Marie-Tooth disease type 2

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