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AttributesValues
rdf:type
rdfs:label
  • Polyostotic Fibrous Dysplasia
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Polyostotic Fibrous Dysplasia
UMLS_CUI
  • C0016065
Contributing_Source
  • NICHD
ALT_DEFINITION
  • FIBROUS DYSPLASIA OF BONE affecting several or many bones. When associated with melanotic pigmentation of the skin and endocrine disorders, it is known as Albright's syndrome. (From Dorland, 28th ed)MSH2003_2003_05_12
Legacy_Concept_Name
  • Polyostotic_Fibrous_Dysplasia_of_Bone
FULL_SYN
  • Polyostotic Fibrous Dysplasia of BoneSYNCI
  • Polyostotic Fibrous Dysplasia of BonePTNICHD
  • Polyostotic Fibrous DysplasiaPTNCI
DEFINITION
  • A genetic syndrome caused by mutations in the GNAS1 gene. It is characterized by deformities and fractures of the bones, endocrine abnormalities including early puberty, and skin hyperpigmentation.NCI
code
  • C34610
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