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Klippel-Feil Syndrome 1

Disease ID: disease_node_17383

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DbxrefMIM:118100
SubclassofDOID_0050736, DOID_10426
Data SourceDOID
Doid LabelKlippel-Feil syndrome 1
Doid DescriptionA Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_17383
Doid IdDOID_0080589
LabelKlippel-Feil Syndrome 1