Summary Literature (0)

DOID:0060248 - Simpson-Golabi-Behmel syndrome type 1

Disease Ontology Definition:A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26.

Synonyms: DGSX Golabi-Rosen syndrome, Golabi-Rosen syndrome, SGB syndrome, Sara Angers syndrome, Simpson dysmorphia syndrome, X-linked dysplasia gigantism syndrome, bulldog syndrome,

Echinobase Genes : ofd1


OMIM:

MIM:300209 - simpson-golabi-behmel syndrome, type 2

MIM:312870 - simpson-golabi-behmel syndrome, type 1; sgbs1

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

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