FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Simpson-Golabi-Behmel syndrome type 1 ID (Ontology) DOID:0060248 (Human Disease)
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.
Also Known As "bulldog syndrome" ; "DGSX Golabi-Rosen syndrome" ; "Golabi-Rosen syndrome" (for all, see Synonyms field below)
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 Genes
 Simpson-Golabi-Behmel syndrome type 1       1
 for disease ribbon | Simpson-Golabi-Behmel syndrome type 1       1
 model of | Simpson-Golabi-Behmel syndrome type 1       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked recessive disease__
disease                         |
 |__syndrome____________________|
                                Simpson-Golabi-Behmel syndrome type 1  1 rec.
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Is a X-linked recessive disease
syndrome
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Synonyms
  • "bulldog syndrome" EXACT
    "DGSX Golabi-Rosen syndrome" EXACT
    "Golabi-Rosen syndrome" EXACT
    "Sara Angers syndrome" EXACT
    "SGB syndrome" EXACT
    "Simpson dysmorphia syndrome" EXACT
    "X-linked dysplasia gigantism syndrome" EXACT
Secondary IDs
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GARD:7649
MESH:C537340
MIM:312870
NCI:C118787
ORDO:373
UMLS_CUI:C0796154