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DO Term : Simpson-Golabi-Behmel syndrome type 1 [DOID:0060248] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • 312870,
  • MESH:C537340,
  • Sara Angers syndrome,
  • X-linked dysplasia gigantism syndrome,
  • DGSX Golabi-Rosen syndrome,
  • Golabi-Rosen syndrome,
  • GARD:7649,
  • NCI:C118787,
  • OMIM:312870,
  • Simpson dysmorphia syndrome,
  • bulldog syndrome,
  • ORDO:373,
  • UMLS_CUI:C0796154,
  • SGB syndrome
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents