omodysplasia 2

Summary
Definition
An omodysplasia that is characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies and that has_material_basis_in heterozygous mutation in the FZD2 gene on chromosome 17q21.
Super Class
autosomal dominant disease omodysplasia
Disease Ontology
DOID:0080845
Mondo Disease Ontology
MeSH
UMLS
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2535 FZD2 frizzled class receptor 2
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q14332 Frizzled-2

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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: April 7, 2025