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 1 - 10 of 63 in total
Gene ID Gene Symbol Description Source
175 AGA aspartylglucosaminidase
523 ATP6V1A ATPase H+ transporting V1 subunit A
1103 CHAT choline O-acetyltransferase
1312 COMT catechol-O-methyltransferase
1376 CPT2 carnitine palmitoyltransferase 2
1543 CYP1A1 cytochrome P450 family 1 subfamily A member 1
1645 AKR1C1 aldo-keto reductase family 1 member C1
1718 DHCR24 24-dehydrocholesterol reductase
1798 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
1836 SLC26A2 solute carrier family 26 member 2
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