Search Ontology:
Human Disease

Klippel-Feil syndrome

Term ID
DOID:10426
Synonyms
  • autosomal dominant Klippel-Feil syndrome
  • congenital dystrophia brevicollis
  • congenital synostosis of cervical vertebrae
  • Klippel-Feil and Turner syndrome
  • Klippel-Feil deformity, deafness and facial asymmetry
Definition
A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra. (3)
References
  • GARD:10280
  • ICD10CM:Q76.1
  • ICD9CM:756.16
  • MESH:D007714
  • MIM:PS118100
  • NCI:C98967
  • ORDO:2345
  • SNOMEDCT_US_2023_03_01:268349005
  • UMLS_CUI:C0022738
Ontology
Human Disease   ( DOID:10426 )
Relationships
is a type of
has subtype
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Genes Involved
Zebrafish Models