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Klippel-Feil syndrome
Summary
- Synonym
-
- Klippel-Feil and Turner syndrome
- Klippel-Feil deformity, deafness and facial asymmetry
- autosomal dominant Klippel-Feil syndrome
- congenital dystrophia brevicollis
- congenital synostosis of cervical vertebrae
- Definition
- A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra.
- Super Class
- physical disorder spinal disease syndrome
External Links
- Disease Ontology
- DOID:10426
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NRR6 | Phosphatidylinositol polyphosphate 5-phosphatase type IV | |
| Q9Y6Z7 | Collectin-10 |
