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Summary Literature (1)
DOID:10426 - Klippel-Feil syndrome


Disease Ontology Definition:A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra.

Synonyms: Klippel-Feil and Turner syndrome, Klippel-Feil deformity, deafness and facial asymmetry, autosomal dominant Klippel-Feil syndrome, congenital dystrophia brevicollis, congenital synostosis of cervical vertebrae

In OMIM:
OMIM:118100 - KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1
OMIM:613702 - KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT; KFS3

In Mondo Disease Ontology:
MONDO:0001029 - Klippel-Feil syndrome

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : gdf3, gdf6

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): physical disorder (is_a), spinal disease (is_a), syndrome (is_a)