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Entry Name Description Category Pathway Gene
H00487 Tricho-dento-osseous syndrome Tricho-dento-osseous syndrome (TDO) is a dysplasia with an autosomal dominant mode of inheritance. Mutation in DLX3 leads to the defects in hair, teeth, and bone. Congenital malformation DLX3 [HSA:1747] [KO:K09315]
H00618 Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism (AIHHT) is a condition characterized by enamel defects and enlarged pulp chambers. Unlike its allelic disorder trichodentoosseous dysplasia ... Congenital malformation DLX3 [HSA:1747] [KO:K09315]
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