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Standards Ontologies Notations
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
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2535 FZD2 frizzled class receptor 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
57265 Fzd2 frizzled class receptor 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
64512 Fzd2 frizzled class receptor 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
45307 fz frizzled
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
399141 fzd2.S frizzled class receptor 2 S homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
172856 mom-5 Protein mom-5
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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: December 9, 2024