has material basis in germline mutation in SMN1 spinal muscular atrophy, type 1 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/6462 https://www.malacards.org/card/spinal_muscular_atrophy_type_i SMA type 1 OMIM:253300 NANDO:1200004 proximal spinal muscular atrophy, type 1 Orphanet:83330 ICD9:335.0 Werdnig-Hoffman disease survival motor neuron spinal muscular atrophy Werdnig Hoffmann disease SMA1 A severe infantile form of proximal spinal muscular atrophy characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. severe infantile spinal muscular atrophy SMA type I Werdnig-Hoffmann disease SMNI SMA-I GARD:0007883 MONDO:0009669 Werdnig-Hoffmann Disease NORD:1844 infantile spinal muscular atrophy icd11.foundation:915903258 NCIT:C98670 spinal muscular atrophy, type I DOID:13137 MEDGEN:1845578 UMLS:C5848259 spinal muscular atrophy-1 SCTID:64383006 infantile muscular atrophy spinal muscular atrophy 1 spinal muscular atrophies of childhood proximal spinal muscular atrophy