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


Disease Ontology Definition:An autosomal recessive disease characterized_by is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome.

Synonyms: Galloway syndrome, microcephaly, hiatal hernia and nephrotic syndrome, nephrosis-microcephaly syndrome, nephrosis-neuronal dysmigration syndrome

Xenbase Genes : tp53rk, osgep, 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): autosomal recessive disease (is_a)