focal segmental glomerulosclerosis 1

Summary

DOID:0111128 - focal segmental glomerulosclerosis 1

Disease Ontology Definition:A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ACTN4 gene on chromosome 19q13.2.

Synonyms: FSGS1

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

: actn4

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011303 - focal segmental glomerulosclerosis 1

MONDO:0011303 - focal segmental glomerulosclerosis 1

MIM:

MIM:603278 - FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1

MIM:603278 - FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1

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

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

Parent(s): autosomal dominant disease (is_a), focal segmental glomerulosclerosis (is_a)