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

OBO ID: DOID:0111559

Term Name:	Charcot-Marie-Tooth disease type 2EE		Search Ontology:
Synonyms:	Charcot-Marie-Tooth disease, axonal, type 2EE CMT2EE
Definition:	A Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the MPV17 gene on chromosome 2p23.3. (2)
References:	OMIM:618400
Ontology:	Human Disease ( DOID:0111559 )

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
MPV17	mpv17	Charcot-Marie-Tooth disease, axonal, type 2EE	618400

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None