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An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Osteogenesis Imperfecta
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Osteogenesis Imperfecta
UMLS_CUI
  • C0029434
Contributing_Source
  • NICHD
ALT_DEFINITION
  • Autosomal dominant COLLAGEN DISEASES resulting from defective biosynthesis of COLLAGEN TYPE I and characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. There are four major types, I-IV.MSH2003_2003_05_12
Legacy_Concept_Name
  • Osteogenesis_Imperfecta
FULL_SYN
  • Osteogenesis ImperfectaPTNCI
  • Osteogenesis ImperfectaPTNICHD
DEFINITION
  • A group of usually autosomal dominant inherited disorders characterized by defective synthesis of collagen type I resulting in defective collagen formation. It is characterized by brittle and easily fractured bones.NCI
code
  • C26837
is rdfs:subClassOf of
is someValuesFrom of
is Has_NICHD_Parent of
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