amelogenesis imperfecta hypomaturation type 2A5

Summary
Synonym
  • AI2A5
  • amelogenesis imperfecta hypomaturation type IIA5
  • amelogenesis imperfecta type IIA5
Definition
An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the SLC24A4 gene on chromosome 14q32.
Super Class
amelogenesis imperfecta autosomal recessive disease
Disease Ontology
DOID:0110063
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
123041 SLC24A4 solute carrier family 24 member 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
238384 Slc24a4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4

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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