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Hereditary Sensory And Autonomic Neuropathy Type 1A

Disease ID: disease_node_19416

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DbxrefMIM:162400
SubclassofDOID_0050736, DOID_0070162
Data SourceDOID
SynonymsHSAN1A, hereditary sensory and autonomic neuropathy type IA
Doid Labelhereditary sensory and autonomic neuropathy type 1A
Doid DescriptionA hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_19416
Doid IdDOID_0070152
LabelHereditary Sensory And Autonomic Neuropathy Type 1A