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hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene.
Uniprot Description An autosomal dominant defect of enamel formation associated with enlarged pulp chambers. Enamel is thin, teeth are small and widely spaced.
Mondo Term and Equivalent IDs
MONDO:0007093:  hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
MESH:C566293: 
Orphanet:100034: 
UMLS:C1863012: