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

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

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

: gdf3, myo18b, gdf6

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0001029 - Klippel-Feil syndrome

MONDO:0001029 - Klippel-Feil syndrome

MIM:

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: Alliance, 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)