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amelogenesis imperfecta hypomaturation type 2A4

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ODAPH 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 caused by homozygous mutation in the C4ORF26 gene on chromosome 4q21.
Mondo Term and Equivalent IDs
MONDO:0013906:  amelogenesis imperfecta hypomaturation type 2A4
UMLS:C3553830: