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 1 - 10 of 12 in total
Gene ID Gene Symbol Description Source
1109 AKR1C4 aldo-keto reductase family 1 member C4
1555 CYP2B6 cytochrome P450 family 2 subfamily B member 6
1836 SLC26A2 solute carrier family 26 member 2
2539 G6PD glucose-6-phosphate dehydrogenase
2619 GAS1 growth arrest specific 1
2998 GYS2 glycogen synthase 2
4047 LSS lanosterol synthase
4907 NT5E 5'-nucleotidase ecto
5067 CNTN3 contactin 3
9382 COG1 component of oligomeric golgi complex 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