Summary Literature (0)

DOID:13137 - Werdnig-Hoffmann disease

Disease Ontology 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.

Synonyms: hereditary motor neuropathy proximal type I, infantile muscular atrophy, progressive muscular atrophy of infancy, Werdnig-Hoffman disease, SMA1, Spinal muscular atrophy 1, HMN (Hereditary motor Neuropathy) Proximal type I

Echinobase Genes :



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee