About: COL1A1 Associated Connective Tissue Disorder     Goto   Sponge   NotDistinct   Permalink

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

AttributesValues
rdf:type
rdfs:label
  • COL1A1 Associated Connective Tissue Disorder
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • COL1A1 Associated Connective Tissue Disorder
UMLS_CUI
  • C0268331
Legacy_Concept_Name
  • COL1A1_Associated_Connective_Tissue_Disorder
FULL_SYN
  • COL1A1 Associated Connective Tissue DisorderPTNCI
DEFINITION
  • A group of connective tissue disorder caused by mutations in the COL1A1 gene mapped to chromosome 17q21. It includes the Ehlers-Danlos syndrome, osteogenesis imperfecta, and osteoporosis.NCI
code
  • C75471
is rdfs:subClassOf of
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