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Disease Ontology Browser
congenital hypomyelinating neuropathy (DOID:0070678)
Alliance: disease page
Synonyms: CHN; congenital hypomyelination neuropathy
Alt IDs: MESH:C535301, OMIM:PS605253, UMLS_CUI:C0393818
Definition: A neuromuscular disease characterized by fetal to infantile onset of hypotonia, areflexia, distal muscle weakness, very slow nerve conduction velocities, and delayed motor development resulting from impaired myelin formation with minimal or no evidence of demyelination.

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
03/31/2026
MGI 6.24 		The Jackson Laboratory