Galloway-Mowat syndrome 1

Summary

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

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

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009627 - Galloway-Mowat syndrome

MONDO:0009627 - Galloway-Mowat syndrome

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), Galloway-Mowat syndrome (is_a)