orofaciodigital syndrome X

Summary
Synonym
  • OFD10
  • orofaciodigital syndrome with fibular aplasia
Definition
An orofaciodigital syndrome that is characterized by facial, oral and digital deformities as well as radial shortening, fibular agenesis and coalescence of tarsal bones.
Super Class
autosomal dominant disease orofaciodigital syndrome
External Links
Disease Ontology
DOID:0060380
Mondo Disease Ontology
MeSH
ORDO
OMIM
Related Genes
Displaying entries 11 - 12 of 12 in total
Gene ID Gene Symbol Description Source
9993 DGCR2 DiGeorge syndrome critical region gene 2
158326 FREM1 FRAS1 related extracellular matrix 1

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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