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Spinal Muscular Atrophy With Lower Extremity Predomit 1

Disease ID: disease_node_18025

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DbxrefMIM:158600
SubclassofDOID_0070348
Data SourceDOID
Synonymsspinal muscular atrophy with lower extremity predominance 1
Doid Labelspinal muscular atrophy with lower extremity predomit 1
Doid DescriptionA spinal muscular atrophy with lower extremity predomice that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_18025
Doid IdDOID_0070351
LabelSpinal Muscular Atrophy With Lower Extremity Predomit 1