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Metadata
ID DOID:0080589
Name Klippel-Feil syndrome 1
Definition A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22.
https://www.ncbi.nlm.nih.gov/pubmed/18425797
Xrefs

OMIM:118100

Parent Relationships

is_a Klippel-Feil syndrome

is_a autosomal dominant disease

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