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Galloway-Mowat Syndrome 1

Disease ID: disease_node_20288

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DbxrefMIM:251300
SubclassofDOID_0050737, DOID_0080694
Data SourceDOID
SynonymsGalloway syndrome, SCAR5, autosomal recessive spinocerebellar ataxia 5, microcephaly, hiatal hernia and nephrotic syndrome, nephrosis-microcephaly syndrome, nephrosis-neuronal dysmigration syndrome
Doid LabelGalloway-Mowat syndrome 1
Doid DescriptionA Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_20288
Doid IdDOID_0060364
LabelGalloway-Mowat Syndrome 1