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amelogenesis imperfecta hypomaturation type 2A5

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any amelogenesis imperfecta in which the cause of the disease is a mutation in the SLC24A4 gene.
Uniprot Description A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel.
Disease Ontology Description An amelogenesis imperfecta that has material basis in homozygous mutation in the SLC24A4 gene on chromosome 14q32.
Mondo Term and Equivalent IDs
MONDO:0014385:  amelogenesis imperfecta hypomaturation type 2A5
UMLS:C4014578: