ZFIN Human Disease: Charcot-Marie-Tooth disease type 4E

OBO ID: DOID:0110195

Term Name:	Charcot-Marie-Tooth disease type 4E		Search Ontology:
Synonyms:	autosomal recessive congenital hypomyelinating or amyelinating neuropathy Charcot-Marie-Tooth neuropathy type 4E CMT4E Neuropathy, congenital hypomyelinating, 1
Definition:	A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23. (2)
References:	ICD10CM:G60.0 OMIM:605253 ORDO:99951
Ontology:	Human Disease ( DOID:0110195 )

Relationships

is a type of:	autosomal dominant disease autosomal recessive disease Charcot-Marie-Tooth disease type 4 autosomal dominant disease autosomal recessive disease Charcot-Marie-Tooth disease type 4 Show first 5 Terms

OTHER Charcot-Marie-Tooth disease type 4E PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
EGR2	egr2b egr2a	Hypomyelinating neuropathy, congenital, 1	605253

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None