amelogenesis imperfecta type 3A

Summary
Synonym
  • ADHCAI
  • amelogenesis imperfecta hypomineralization type
  • amelogenesis imperfecta type III
  • autosomal dominant amelogenesis imperfecta hypocalcification type
Definition
An amelogenesis imperfecta type 3 that has_material_basis_in heterozygous mutation in the FAM83H gene on chromosome 8q24.
Super Class
amelogenesis imperfecta type 3 autosomal dominant disease
Disease Ontology
DOID:0110055
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
105732 Fam83h family with sequence similarity 83, member H

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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