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Standards Ontologies Notations
orofaciodigital syndrome XVI

Summary
Definition
An orofaciodigital syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13.
Super Class
autosomal recessive disease orofaciodigital syndrome
Disease Ontology
DOID:0080254
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
84314 TMEM107 transmembrane protein 107
Displaying 1 entry
Gene ID Gene Symbol Description Source
66910 Tmem107 transmembrane protein 107
Displaying 1 entry
Gene ID Gene Symbol Description Source
691750 Tmem107 transmembrane protein 107
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
735183 tmem107.L transmembrane protein 107 L homeolog Xenopus laevis (African clawed frog)
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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