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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.

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

In OMIM:
OMIM:253300 - SPINAL MUSCULAR ATROPHY, TYPE I; SMA1

In Mondo Disease Ontology:
MONDO:0009669 - spinal muscular atrophy, type 1

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : smn1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): childhood spinal muscular atrophy (is_a)