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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 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

In OMIM:
OMIM:300209 - SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2
OMIM:312870 - SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1

In Mondo Disease Ontology:
MONDO:0020602 - Simpson-Golabi-Behmel syndrome type 1

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : gpc4, gpc3, ofd1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): X-linked disease (is_a), syndrome (is_a)