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Disease Ontology Browser
congenital hypomyelinating neuropathy 1 (DOID:0110195)
Alliance: disease page
Synonyms: autosomal recessive congenital hypomyelinating or amyelinating neuropathy; Charcot-Marie-Tooth disease type 4E; Charcot-Marie-Tooth neuropathy type 4E; CHN1; CMT4E; Neuropathy, congenital hypomyelinating, 1
Alt IDs: OMIM:605253, ICD10CM:G60.0, ORDO:99951, UMLS_CUI:C4721437
Definition: A congenital hypomyelinating neuropathy that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21.

Disease References using Mouse Models (2)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/14/2026
MGI 6.24 		The Jackson Laboratory