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Entry	Name	Description	Category	Gene
H00615	Amelogenesis imperfecta	... imperfecta (AI) represents a heterogeneous group of inherited disorders characterized by very thin dental enamel. Defects in mineralization or matrix formation during tooth development lead to enamel hypoplasia ...	Congenital malformation	(AI1A) LAMB3 [HSA:3914] [KO:K06244] (AI1B/C) ENAM [HSA:10117] [KO:K23444] (AI1E) AMELX [HSA:265] [KO:K23443] (AI1F) AMBN [HSA:258] [KO:K23442] (AI1G) FAM20A [HSA:54757] [KO:K21957] (AI1H) ITGB6 [HSA:3694] [KO:K06589] (AI1J) ACP4 [HSA:93650] [KO:K19284] (AI1K) SP6 [HSA:80320] [KO:K09196] (AI2A1) KLK4 [HSA:9622] [KO:K08666] (AI2A2) MMP20 [HSA:9313] [KO:K07999] (AI2A3) WDR72 [HSA:256764] [KO:K24753] (AI2A4) ODAPH [HSA:152816] [KO:K24398] (AI2A5) SLC24A4 [HSA:123041] [KO:K13752] (AI2A6) GPR68 [HSA:8111] [KO:K08408] (AI3A) FAM83H [HSA:286077] [KO:K23931] (AI3B) AMTN [HSA:401138] [KO:K25225] (AI3C) RELT [HSA:84957] [KO:K05156]
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]
H00708	Naegeli-Franceschetti-Jadassohn syndrome	... dermatoglyphics, reticulate hyperpigmentation of the skin, palmoplantar keratoderma, and decreased sweating. Enamel defects and nail dystrophy have been observed in some patients. Decreased expression of keratin ...	Congenital malformation	KRT14 [HSA:3861] [KO:K07604]
H01331	Dental caries Dental decay	Dental caries occurs due to demineralization of enamel and dentine (the hard tissues of the teeth) by organic acids formed by bacteria in dental plaque through the anaerobic metabolism of sugars derived ...	Bacterial infectious disease
H01408	Periodontal disease	... disease, saccharolytic, aerobic Streptococcus spp. and other bacteria adhere to and colonize the tooth enamel and root surface. This sets the stage for Fusobacterium nucleatum to coaggregate with these early ...	Bacterial infectious disease
H01468	Eosinophilic granulomatosis with polyangiitis Churg-Strauss syndrome	... small-to-medium-size blood vessels. This disease has been called Churg-Strauss syndrome (CSS) for many years, and renamed eosinophilic granulomatosis with polyangiitis (EGPA) in 2012. EGPA is characterized by asthma ...	Immune system disease
H01775	PCDH19-related epilepsy syndrome Early infantile epileptic encephalopathy 9 Epilepsy with mental retardation limited to females	... disorder, first reported as epilepsy and mental retardation limited to females (EMFR) and recently renamed early infantile epileptic encephalopathy 9 (EIEE9). It was transmitted via asymptomatic males ...	Nervous system disease	PCDH19 [HSA:57526] [KO:K16499]
H01793	Young-Simpson syndrome Say-Barber-Biesecker-Young-Simpson syndrome Say-Barber-Biesecker variant of Ohdo syndrome	... teeth. Subsequently, the Young-Simpson syndrome was described. Later the Young-Simpson syndrome was renamed the Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome. SBBYSS and genitopatellar ...	Congenital malformation	KAT6B [HSA:23522] [KO:K11306]
H01824	CODAS syndrome Cerebral, ocular, dental, auricular, and skeletal anomalies syndrome	... highly distinctive with characteristic features consisting of developmental delay, cataracts, unusual enamel projections, overfolded and crumpled ears, epiphyseal dysplasia, and dysmorphic features (grooved ...	Congenital malformation	LONP1 [HSA:9361] [KO:K08675]
H02234	Hamamy syndrome	... recessive syndrome comprising severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, and osteopenia with repeated fractures. Patients have severe myopia, mild to moderate ...	Congenital malformation	IRX5 [HSA:10265] [KO:K24889]
H02619	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (HADDTS) is caused by a pathogenic CTBP1 missense mutation. CTBP1 is the transcriptional corepressor. The enzymatic constituents ...	Congenital malformation	CTBP1 [HSA:1487] [KO:K04496]

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