Klippel-Feil syndrome

Summary

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,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

OMIM:

MIM:118100 - klippel-feil syndrome 1, autosomal dominant; kfs1
MIM:613702 - klippel-feil syndrome 3, autosomal dominant; kfs3

MIM:118100 - klippel-feil syndrome 1, autosomal dominant; kfs1

MIM:613702 - klippel-feil syndrome 3, autosomal dominant; kfs3

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): physical disorder (is_a), spinal disease (is_a), syndrome (is_a)