chondrodysplasia punctata

Summary
Synonym
  • Chondrodysplasia punctata congenita
Definition
A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography.
Super Class
monogenic disease syndrome
Related Genes
Displaying entries 1 - 10 of 19 in total
Gene ID Gene Symbol Description Source
411 ARSB arylsulfatase B
412 STS steroid sulfatase
1298 COL9A2 collagen type IX alpha 2 chain
1718 DHCR24 24-dehydrocholesterol reductase
1836 SLC26A2 solute carrier family 26 member 2
2137 EXTL3 exostosin like glycosyltransferase 3
2222 FDFT1 farnesyl-diphosphate farnesyltransferase 1
2990 GUSB glucuronidase beta
4758 NEU1 neuraminidase 1
6307 MSMO1 methylsterol monooxygenase 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