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

In OMIM:

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

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

MONDO:0001029 - Klippel-Feil syndrome

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

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, gdf6

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

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