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
Displaying entries 1 - 10 of 13 in total
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
Displaying entries 11 - 12 of 12 in total
UniProt ID Protein Name Source
Q9NRR6 Phosphatidylinositol polyphosphate 5-phosphatase type IV
Q9Y6Z7 Collectin-10

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024