monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
Creative Commons Attribution 4.0 International
227 stars 53 forks source link

[Review Term] Re-examine the parent class Dysostosis #7856

Closed yshwetar closed 3 months ago

yshwetar commented 3 months ago

Dysostosis Definition: Dysostosis multiplex is a term that refers to the multiple abnormalities that are seen on radiographs of bones. (Source: https://www.sciencedirect.com/topics/veterinary-science-and-veterinary-medicine/dysostosis#:~:text=Dysostosis%20multiplex%20is%20a%20term,seen%20on%20radiographs%20of%20bones.)

Pubmed and other related databases return scant, if any, dedicated medical definitions of Dysostosis. When Dysostosis is mentioned in the literature, it is typically in relation to specific disease etiologies like Cleidrocranial Dysostosis (PMID:34367447 , source: https://pubmed.ncbi.nlm.nih.gov/34367447/), Spondylocostal Dysostosis (PMID: 8200707, source: https://pubmed.ncbi.nlm.nih.gov/8200707/), and Mandibulofacial Dysostosis (PMID:32965901, source: https://www.ncbi.nlm.nih.gov/books/NBK562230/). Furthermore, the use of Dysostosis in clinical medicine is questionable.

Scant clinical usage along with its broad categorization necessitates re-examining Dysostosis as a parent class, or obsoleting the term.