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Summary Literature (0)
DOID:10426 - Klippel-Feil syndrome


Disease Ontology Definition:A physical disorder that has_material_basis_in 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

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

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)


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