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About: Simpson-Golabi-Behmel syndrome type 1     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
type
subClassOf
label
  • Simpson-Golabi-Behmel syndrome type 1
described by
id
  • DOID:0060248
created_by
  • emitraka
creation_date
  • 2015-01-29T15:15:46Z
database_cross_reference
  • GARD:7649
  • MESH:C537340
  • NCI:C118787
  • OMIM:312870
  • ORDO:373
  • UMLS_CUI:C0796154
has_exact_synonym
  • DGSX Golabi-Rosen syndrome (en)
  • Golabi-Rosen syndrome (en)
  • SGB syndrome (en)
  • Sara Angers syndrome (en)
  • Simpson dysmorphia syndrome (en)
  • X-linked dysplasia gigantism syndrome (en)
  • bulldog syndrome (en)
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • 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 on chromosome Xq26.
is topic of
is annotatedSource of
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