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Summary Literature (2)
DOID:0060364 - Galloway-Mowat syndrome 1


Disease Ontology Definition:A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25.

Synonyms: Galloway syndrome, SCAR5, autosomal recessive spinocerebellar ataxia 5, microcephaly, hiatal hernia and nephrotic syndrome, nephrosis-microcephaly syndrome, nephrosis-neuronal dysmigration syndrome,

Xenbase Genes : tp53rk, osgep, znf592, nup133, nup107, tprkb, wdr73, lage3, wdr4

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009627 - Galloway-Mowat syndrome


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Galloway-Mowat syndrome (is_a), autosomal recessive disease (is_a)