amelogenesis imperfecta type 1H

Summary
Synonym
  • AI1H
  • amelogenesis imperfecta type IH
Definition
An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24.
Super Class
amelogenesis imperfecta autosomal recessive disease
Disease Ontology
DOID:0110064
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3694 ITGB6 integrin subunit beta 6
Displaying 1 entry
Gene ID Gene Symbol Description Source
16420 Itgb6 integrin beta 6
Displaying 1 entry
Gene ID Gene Symbol Description Source
311061 Itgb6 integrin subunit beta 6
Displaying 1 entry
Gene ID Gene Symbol Description Source
44885 mys myospheroid
Displaying 1 entry
Gene ID Gene Symbol Description Source
175504 pat-3 Integrin beta pat-3

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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