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Metadata
ID DOID:0080590
Name Klippel-Feil syndrome 2
Definition A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MEOX1 gene on chromosome 17q21.
https://www.ncbi.nlm.nih.gov/pubmed/23290072
Xrefs

OMIM:214300

Parent Relationships

is_a Klippel-Feil syndrome

is_a autosomal recessive disease

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