Simpson-Golabi-Behmel syndrome type 1

Summary

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

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

: gpc4, gpc3, ofd1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0020602 - Simpson-Golabi-Behmel syndrome type 1

MONDO:0020602 - Simpson-Golabi-Behmel syndrome type 1

MIM:

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

MIM:300209 - SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2

MIM:312870 - SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1

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

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

Parent(s): syndrome (is_a), X-linked monogenic disease (is_a), X-linked recessive disease (is_a)