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DO Term : Klippel-Feil syndrome [DOID:10426] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra.
  • synonyms:
  • DOID:14747,
  • autosomal dominant Klippel-Feil syndrome,
  • ICD10CM:Q76.1,
  • ORDO:2345,
  • OMIM:PS118100,
  • NCI:C98967,
  • Klippel-Feil and Turner syndrome,
  • UMLS_CUI:C0022738,
  • ICD9CM:756.16,
  • congenital synostosis of cervical vertebrae,
  • SNOMEDCT_US_2023_03_01:268349005,
  • MESH:D007714,
  • PS118100,
  • Klippel-Feil deformity, deafness and facial asymmetry,
  • GARD:10280,
  • congenital dystrophia brevicollis
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Ontology Term --> Direct children

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