Klippel-Feil syndrome 1

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Echinobase

Summary

Literature (0)

DOID:0080589 - Klippel-Feil syndrome 1

Disease Ontology Definition:A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22.

Synonyms:

Echinobase 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

MIM:

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

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

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

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

Parent(s): autosomal dominant disease (is_a), Klippel-Feil syndrome (is_a)