About   Help   FAQ
Disease Ontology Browser
Simpson-Golabi-Behmel syndrome type 1 (DOID:0060248)
Alliance: disease page
Synonyms: bulldog syndrome; DGSX Golabi-Rosen syndrome; Golabi-Rosen syndrome; Sara Angers syndrome; SGB syndrome; Simpson dysmorphia syndrome; X-linked dysplasia gigantism syndrome
Alt IDs: OMIM:312870, MESH:C537340, NCI:C118787, ORDO:373, UMLS_CUI:C0796154
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.

Disease References using Mouse Models (3)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory