amelogenesis imperfecta type 1C

Summary
Synonym
  • AI1C
  • amelogenesis imperfecta type IC
  • autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion
  • autosomal recessive amelogenesis imperfecta local hypoplastic type
Definition
An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the enamelin gene (ENAM).
Super Class
amelogenesis imperfecta autosomal recessive disease
Disease Ontology
DOID:0110056
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
10117 ENAM enamelin
Displaying 1 entry
Gene ID Gene Symbol Description Source
13801 Enam enamelin

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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