humeroradial synostosis

Summary
Definition
A synostosis that is characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity.
Super Class
synostosis
External Links
Disease Ontology
DOID:0060467
Mondo Disease Ontology
MeSH
ORDO
OMIM
GARD
Related Genes
Displaying entries 11 - 16 of 16 in total
Gene ID Gene Symbol Description Source
9791 PTDSS1 phosphatidylserine synthase 1
10584 COLEC10 collectin subfamily member 10
11285 B4GALT7 beta-1,4-galactosyltransferase 7
26229 B3GAT3 beta-1,3-glucuronyltransferase 3
64131 XYLT1 xylosyltransferase 1
78989 COLEC11 collectin subfamily member 11

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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