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ZIRC
OBO ID: DOID:10426
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Term Name: Klippel-Feil syndrome Search Ontology:
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
  • NCI:C98967
  • OMIM:PS118100
  • ORDO:2345
  • SNOMEDCT_US_2018_03_01:5601008
  • UMLS_CUI:C0022738
Ontology: Human Disease   (DOID:10426)
Relationships
is a type of:
has subtype:
OTHER Klippel-Feil syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS
Fish Conditions Citations
meox1tm26/tm26(TU) standard conditions Dauer et al., 2018
PHENOTYPE No data available

CITATIONS (1)