Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0060248 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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