split hand-foot malformation 5

Summary
Synonym
  • SHFM5
Definition
A split-hand/foot malformation that has_material_basis_in deletions in the chromosome region 2q31.
Super Class
split hand-foot malformation
External Links
Disease Ontology
DOID:0090022
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
7368 UGT8 UDP glycosyltransferase 8
81890 QTRT1 queuine tRNA-ribosyltransferase catalytic subunit 1
Related Glycoprotein

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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