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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)
