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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)
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Send questions and comments to User Support. 		last database update
10/29/2024
MGI 6.24 		The Jackson Laboratory