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amelogenesis imperfecta hypomaturation type 2A3

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 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.
Mondo Term and Equivalent IDs
MONDO:0013181:  amelogenesis imperfecta hypomaturation type 2A3
MESH:C567706: 
UMLS:C2750771: