clubfoot

Summary
Synonym
  • Congenital equinovarus
  • Equinovarus deformity of foot
  • congenital clubfoot
  • congenital talipes equinovarus
Definition
A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities.
Super Class
bone development disease
External Links
Disease Ontology
DOID:11836
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 21 - 30 of 63 in total
Gene ID Gene Symbol Description Source
3339 HSPG2 heparan sulfate proteoglycan 2
3897 L1CAM L1 cell adhesion molecule
4247 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
5297 PI4KA phosphatidylinositol 4-kinase alpha
5373 PMM2 phosphomannomutase 2
5728 PTEN phosphatase and tensin homolog
6309 SC5D sterol-C5-desaturase
7355 SLC35A2 solute carrier family 35 member A2
8898 MTMR2 myotubularin related protein 2
8985 PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3
Related Glycoprotein
Displaying entries 51 - 52 of 52 in total
UniProt ID Protein Name Source
Q9Y5P6 Mannose-1-phosphate guanyltransferase beta
Q9Y6A1 Protein O-mannosyl-transferase 1

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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