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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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 175 | AGA | aspartylglucosaminidase | |
| 952 | CD38 | CD38 molecule | |
| 3425 | IDUA | alpha-L-iduronidase | |
| 3955 | LFNG | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | |
| 4125 | MAN2B1 | mannosidase alpha class 2B member 1 | |
| 5648 | MASP1 | MBL associated serine protease 1 | |
| 10584 | COLEC10 | collectin subfamily member 10 | |
| 10682 | EBP | EBP cholestenol delta-isomerase | |
| 23659 | PLA2G15 | phospholipase A2 group XV | |
| 55902 | ACSS2 | acyl-CoA synthetase short chain family member 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NRR6 | Phosphatidylinositol polyphosphate 5-phosphatase type IV | |
| Q9Y6Z7 | Collectin-10 |
