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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
:
gpc4,
gpc3,
ofd1
| MONDO:0020602 - Simpson-Golabi-Behmel syndrome type 1 |
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)