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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, HMN (Hereditary motor Neuropathy) Proximal type I, infantile muscular atrophy, progressive muscular atrophy of infancy, SMA1, Spinal muscular atrophy 1, Werdnig-Hoffman disease
Xenbase Genes
:
smn1
| MONDO:0009669 - embryonic cloacal lumen |
| MIM:253300 - SPINAL MUSCULAR ATROPHY, TYPE I; SMA1 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
childhood spinal muscular atrophy (is_a)