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This portal was initiated by Prof Andreas Zankl at the University of Sydney. Our goal is to create Wikipathways diagrams for all known skeletal dysplasia genes.

Skeletal dysplasias are rare genetic disorders affecting the development and normal function of the skeleton. They are typically caused by genetic variants in a single gene, causing abnormal function of that particular gene. As such, skeletal dysplasias allow us to study the effect of abnormal function of a particular gene on skeletal development. Skeletal dysplasias occur as spontanous mutations in humans, but also in cats, dogs, mice and other animals. In addition, mouse models that carry mutations found in human patients have been created to study the functional consequences of these mutations in more detail. There are 461 different skeletal dysplasias and pathogenic variants in 437 different genes have been identified in 425 of these 461 disorders (PMID:31633310). We thus know the genetic basis for over 90% of all skeletal dysplasias. However, we are only beginning to understand what these genes do, how they interact and how mutations in these genes lead to the extreme skeletal phenotypes that we observe in patients with skeletal dysplasias. By curating the world's knowledge about these genes and the disorders they cause, we hope to arrive at a systems level understanding of skeletal biology, seen through the lens of skeletal dysplasias.

The pathway diagrams listed below cover over 100 skeletal dysplasia genes, about 25% of the total number of known skeletal dysplasia genes. Please help us cover the rest!

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