Simpson-Golabi-Behmel syndrome type 1

Term ID

DOID:0060248

Synonyms

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

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. (3)

References

• GARD:7649
• MESH:C537340
• NCI:C118787
• OMIM:312870
• ORDO:373
• UMLS_CUI:C0796154

Ontology

Human Disease   ( DOID:0060248 )