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
External Links
Disease Ontology
DOID:0110064
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
1645 AKR1C1 aldo-keto reductase family 1 member C1
1646 AKR1C2 aldo-keto reductase family 1 member C2
55858 TMEM165 transmembrane protein 165
64386 MMP25 matrix metallopeptidase 25

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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: August 19, 2024