OBO ID: DOID:0060248
Term Name: Simpson-Golabi-Behmel syndrome type 1 Search Ontology:
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 Simpson-Golabi-Behmel syndrome type 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GPC3 Simpson-Golabi-Behmel syndrome, type 1 312870
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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