ZFIN Human Disease: Charcot-Marie-Tooth disease type 2A2B

OBO ID: DOID:0111557

Term Name:	Charcot-Marie-Tooth disease type 2A2B		Search Ontology:
Synonyms:	AR-CMT2, Ouvrier type autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type Charcot-Marie-Tooth disease, axonal, type 2A2B CMT2A2B SEOAN due to MFN2 deficiency severe early-onset axonal neuropathy due to MFN2 deficiency
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
References:	OMIM:617087 ORDO:90118
Ontology:	Human Disease ( DOID:0111557 )

Relationships

is a type of:	autosomal recessive disease Charcot-Marie-Tooth disease type 2 autosomal recessive disease Charcot-Marie-Tooth disease type 2 Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MFN2	mfn2	Charcot-Marie-Tooth disease, axonal, type 2A2B	617087

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None