Search Ontology:
Human Disease
Klippel-Feil syndrome 1
- Term ID
- DOID:0080589
- Synonyms
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- 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
- References
- Ontology
- Human Disease ( DOID:0080589 )
- is a type of
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