About   Help   FAQ
Disease Ontology Browser
Werdnig-Hoffmann disease (DOID:13137)
Alliance: disease page
Synonyms: hereditary motor neuropathy proximal type I; HMN (Hereditary motor Neuropathy) Proximal type I; infantile muscular atrophy; progressive muscular atrophy of infancy; SMA1; Spinal muscular atrophy 1
Alt IDs: OMIM:253300, ICD10CM:G12.0, ICD9CM:335.0, MESH:D014897, NCI:C98670, UMLS_CUI:C0043116
Definition: A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted and that has_material_basis_in a mutation or deletion in the telomeric copy of the SMN gene, known as SMN1, on chromosome 5q13.

Disease References using Mouse Models (64)
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory