amelogenesis imperfecta type 1F

Summary
Synonym
  • AI1F
  • amelogenesis imperfecta hypoplastic type IF
  • amelogenesis imperfecta type IF
Definition
An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ameloblastin gene (AMBN) on chromosome 4q13.
Super Class
amelogenesis imperfecta autosomal recessive disease
Disease Ontology
DOID:0110065
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
258 AMBN ameloblastin
Displaying 1 entry
Gene ID Gene Symbol Description Source
25376 Ambn ameloblastin

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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