amelogenesis imperfecta type 3C

Summary
Synonym
  • AI3C
  • amelogenesis imperfecta type IIIC
  • autosomal recessive amelogenesis imperfecta hypocalcification type
Definition
An amelogenesis imperfecta type 3 that is characterized by hypocalcified enamel in both the primary and secondary dentition and that has_material_basis_in homozygous mutation in the RELT gene on chromosome 11q13.
Super Class
amelogenesis imperfecta type 3 autosomal recessive disease
External Links
Disease Ontology
DOID:0111722
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
84957 RELT RELT TNF receptor
Displaying 1 entry
Gene ID Gene Symbol Description Source
320100 Relt RELT tumor necrosis factor receptor

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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