Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the dentition (HP:0000164)help
Parent Node:
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Abnormal odontoid tissue morphology (HP:3000050)help
Parent Node:
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Abnormality of dental structure (HP:0011061)help
..Starting node
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Abnormal dental enamel morphology (HP:0000682)help
Term ID: 682
Name: Abnormal dental enamel morphology
Synonym: Abnormal tooth enamel; Abnormality of dental enamel; Defective tooth enamel; Dystrophic tooth enamel; Enamel abnormalities; Enamel abnormality; Malformation of dental enamel; Malformation of tooth enamel
Definition: An abnormality of the dental enamel.
Comments:
Reference: HP:0000682
Genes and Diseases:
 
       Child Nodes:
........expandGrayish enamel (HP:0000683) help
........expandAmelogenesis imperfecta (HP:0000705) help
........expandHypomineralization of enamel (HP:0006285) help
................... HP:0011084 Hypocalcification of dental enamel
................... HP:0011085 Hypomature dental enamel
........expandHypoplasia of dental enamel (HP:0006297) help
................... HP:0006282 Generalized hypoplasia of dental enamel
................... HP:0011074 Localized hypoplasia of dental enamel
........expandDental enamel pits (HP:0009722) help

 Sister Nodes: 
..expandAbnormal cementum morphology (HP:0100717) help
..expandAbnormal dental pulp morphology (HP:0006479) help
..expandAbnormal dentin morphology (HP:0010299) help
..expandAbnormality of dental color (HP:0011073) help
..expandCarious teeth (HP:0000670) help
..expandHypoplasia of teeth (HP:0000685) help
..expandTooth abscess (HP:0030757) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000682HP:0000682Abnormal dental enamel morphology0ACP4 CL E G H9365014376OMIM:617297AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J7
HP:0000682HP:0000682Abnormal dental enamel morphology0ADGRV1 CL E G H8405917416ORPHA:231178Usher syndrome type 2HP:0040283 - Occasional530
HP:0000682HP:0000682Abnormal dental enamel morphology0AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0000682HP:0000682Abnormal dental enamel morphology0AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0000682HP:0000682Abnormal dental enamel morphology0ALDH3A2 CL E G H224403ORPHA:816Sjögren-Larsson syndromeHP:0040283 - Occasional87
HP:0000682HP:0000682Abnormal dental enamel morphology0ALDH3A2 CL E G H224403OMIM:270200Sjogren-Larsson syndrome87
HP:0000682HP:0000682Abnormal dental enamel morphology0AMBN CL E G H258452OMIM:616270AMELOGENESIS IMPERFECTA, TYPE IF; AI1F2
HP:0000682HP:0000682Abnormal dental enamel morphology0AMELX CL E G H265461OMIM:301200Amelogenesis imperfecta, type IE17
HP:0000682HP:0000682Abnormal dental enamel morphology0AMTN CL E G H40113833188OMIM:617607AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B1
HP:0000682HP:0000682Abnormal dental enamel morphology0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040283 - Occasional2
HP:0000682HP:0000682Abnormal dental enamel morphology0APC CL E G H324583ORPHA:3258Cenani-Lenz syndromeHP:0040283 - Occasional3179
HP:0000682HP:0000682Abnormal dental enamel morphology0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0000682HP:0000682Abnormal dental enamel morphology0ATR CL E G H545882OMIM:614564Cutaneous telangiectasia and cancer syndrome, familial168
HP:0000682HP:0000682Abnormal dental enamel morphology0ATR CL E G H545882ORPHA:808Seckel syndromeHP:0040282 - Frequent168
HP:0000682HP:0000682Abnormal dental enamel morphology0ATR CL E G H545882OMIM:210600Seckel syndrome 1168
HP:0000682HP:0000682Abnormal dental enamel morphology0ATRIP CL E G H8412633499ORPHA:808Seckel syndromeHP:0040282 - Frequent1
HP:0000682HP:0000682Abnormal dental enamel morphology0AXIN2 CL E G H8313904ORPHA:99798Oligodontia435
HP:0000682HP:0000682Abnormal dental enamel morphology0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000682HP:0000682Abnormal dental enamel morphology0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000682HP:0000682Abnormal dental enamel morphology0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000682HP:0000682Abnormal dental enamel morphology0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0000682HP:0000682Abnormal dental enamel morphology0CCDC8 CL E G H8398725367ORPHA:26163M syndromeHP:0040282 - Frequent5
HP:0000682HP:0000682Abnormal dental enamel morphology0CDH23 CL E G H6407213733ORPHA:231169Usher syndrome type 1HP:0040283 - Occasional636
HP:0000682HP:0000682Abnormal dental enamel morphology0CENPE CL E G H10621856ORPHA:808Seckel syndromeHP:0040282 - Frequent20
HP:0000682HP:0000682Abnormal dental enamel morphology0CENPJ CL E G H5583517272ORPHA:808Seckel syndromeHP:0040282 - Frequent161
HP:0000682HP:0000682Abnormal dental enamel morphology0CEP152 CL E G H2299529298ORPHA:808Seckel syndromeHP:0040282 - Frequent146
HP:0000682HP:0000682Abnormal dental enamel morphology0CIB2 CL E G H1051824579ORPHA:231169Usher syndrome type 1HP:0040283 - Occasional15
HP:0000682HP:0000682Abnormal dental enamel morphology0CLDN1 CL E G H90762032OMIM:607626Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis11
HP:0000682HP:0000682Abnormal dental enamel morphology0CLDN1 CL E G H90762032ORPHA:59303Neonatal ichthyosis-sclerosing cholangitis syndromeHP:0040283 - Occasional11
HP:0000682HP:0000682Abnormal dental enamel morphology0CLDN19 CL E G H1494612040OMIM:248190Hypomagnesemia 5, renal, with or without ocular involvement42
HP:0000682HP:0000682Abnormal dental enamel morphology0CLEC7A CL E G H6458114558ORPHA:1334Chronic mucocutaneous candidiasisHP:0040283 - Occasional3
HP:0000682HP:0000682Abnormal dental enamel morphology0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000682HP:0000682Abnormal dental enamel morphology0CNNM4 CL E G H26504105OMIM:217080Jalili syndrome61
HP:0000682HP:0000682Abnormal dental enamel morphology0CNNM4 CL E G H26504105ORPHA:1873Jalili syndromeHP:0040281 - Very frequent61
HP:0000682HP:0000682Abnormal dental enamel morphology0COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0000682HP:0000682Abnormal dental enamel morphology0COG6 CL E G H5751118621ORPHA:363523Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome71
HP:0000682HP:0000682Abnormal dental enamel morphology0COG6 CL E G H5751118621OMIM:615328Shaheen syndrome71
HP:0000682HP:0000682Abnormal dental enamel morphology0COL17A1 CL E G H13082194OMIM:619787EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4129
HP:0000682HP:0000682Abnormal dental enamel morphology0COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosa129
HP:0000682HP:0000682Abnormal dental enamel morphology0COL17A1 CL E G H13082194ORPHA:79406Late-onset junctional epidermolysis bullosa129
HP:0000682HP:0000682Abnormal dental enamel morphology0COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosa129
HP:0000682HP:0000682Abnormal dental enamel morphology0COL7A1 CL E G H12942214OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive263
HP:0000682HP:0000682Abnormal dental enamel morphology0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0000682HP:0000682Abnormal dental enamel morphology0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional6
HP:0000682HP:0000682Abnormal dental enamel morphology0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000682HP:0000682Abnormal dental enamel morphology0CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0000682HP:0000682Abnormal dental enamel morphology0CUL7 CL E G H982021024ORPHA:26163M syndromeHP:0040282 - Frequent127
HP:0000682HP:0000682Abnormal dental enamel morphology0CYP27B1 CL E G H15942606ORPHA:289157Hypocalcemic vitamin D-dependent rickets41
HP:0000682HP:0000682Abnormal dental enamel morphology0CYP27B1 CL E G H15942606OMIM:264700Vitamin D hydroxylation-deficient rickets, type 1A41
HP:0000682HP:0000682Abnormal dental enamel morphology0CYP2R1 CL E G H12022720580ORPHA:289157Hypocalcemic vitamin D-dependent rickets5
HP:0000682HP:0000682Abnormal dental enamel morphology0DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 52
HP:0000682HP:0000682Abnormal dental enamel morphology0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040283 - Occasional159
HP:0000682HP:0000682Abnormal dental enamel morphology0DLX3 CL E G H17472916OMIM:104510AMELOGENESIS IMPERFECTA, TYPE IV; AI448
HP:0000682HP:0000682Abnormal dental enamel morphology0DLX3 CL E G H17472916ORPHA:3352Tricho-dento-osseous syndrome48
HP:0000682HP:0000682Abnormal dental enamel morphology0DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 35
HP:0000682HP:0000682Abnormal dental enamel morphology0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000682HP:0000682Abnormal dental enamel morphology0DSPP CL E G H18343054OMIM:125500Dentinogenesis imperfecta, shields type III38
HP:0000682HP:0000682Abnormal dental enamel morphology0EDA CL E G H18963157ORPHA:99798Oligodontia115
HP:0000682HP:0000682Abnormal dental enamel morphology0EDARADD CL E G H12817814341ORPHA:99798Oligodontia56
HP:0000682HP:0000682Abnormal dental enamel morphology0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000682HP:0000682Abnormal dental enamel morphology0ELMO2 CL E G H6391617233ORPHA:3019Ramon syndromeHP:0040283 - Occasional3
HP:0000682HP:0000682Abnormal dental enamel morphology0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0000682HP:0000682Abnormal dental enamel morphology0ENAM CL E G H101173344OMIM:104500Amelogenesis imperfecta, type IB50
HP:0000682HP:0000682Abnormal dental enamel morphology0ENAM CL E G H101173344OMIM:204650Amelogenesis imperfecta, type IC50
HP:0000682HP:0000682Abnormal dental enamel morphology0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000682HP:0000682Abnormal dental enamel morphology0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 220
HP:0000682HP:0000682Abnormal dental enamel morphology0ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0000682HP:0000682Abnormal dental enamel morphology0ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0000682HP:0000682Abnormal dental enamel morphology0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1158
HP:0000682HP:0000682Abnormal dental enamel morphology0ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome158
HP:0000682HP:0000682Abnormal dental enamel morphology0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1199
HP:0000682HP:0000682Abnormal dental enamel morphology0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2199
HP:0000682HP:0000682Abnormal dental enamel morphology0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:0000682HP:0000682Abnormal dental enamel morphology0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A55
HP:0000682HP:0000682Abnormal dental enamel morphology0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 155
HP:0000682HP:0000682Abnormal dental enamel morphology0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 255
HP:0000682HP:0000682Abnormal dental enamel morphology0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:0000682HP:0000682Abnormal dental enamel morphology0ESPN CL E G H8371513281ORPHA:231169Usher syndrome type 1HP:0040283 - Occasional33
HP:0000682HP:0000682Abnormal dental enamel morphology0FAM20A CL E G H5475723015ORPHA:1031Enamel-renal syndromeHP:0040281 - Very frequent16
HP:0000682HP:0000682Abnormal dental enamel morphology0FAM20A CL E G H5475723015OMIM:204690Enamel-Renal syndrome16
HP:0000682HP:0000682Abnormal dental enamel morphology0FAM20C CL E G H5697522140OMIM:259775Raine syndrome35
HP:0000682HP:0000682Abnormal dental enamel morphology0FAM83H CL E G H28607724797OMIM:130900Amelogenesis imperfecta, type III22
HP:0000682HP:0000682Abnormal dental enamel morphology0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000682HP:0000682Abnormal dental enamel morphology0FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosaHP:0040282 - Frequent136
HP:0000682HP:0000682Abnormal dental enamel morphology0FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome17
HP:0000682HP:0000682Abnormal dental enamel morphology0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040282 - Frequent17
HP:0000682HP:0000682Abnormal dental enamel morphology0FGF3 CL E G H22483681ORPHA:2791Otodental syndromeHP:0040282 - Frequent18
HP:0000682HP:0000682Abnormal dental enamel morphology0FGFR1 CL E G H22603688ORPHA:99798Oligodontia172
HP:0000682HP:0000682Abnormal dental enamel morphology0FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome175
HP:0000682HP:0000682Abnormal dental enamel morphology0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040282 - Frequent175
HP:0000682HP:0000682Abnormal dental enamel morphology0FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome145
HP:0000682HP:0000682Abnormal dental enamel morphology0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040282 - Frequent145
HP:0000682HP:0000682Abnormal dental enamel morphology0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000682HP:0000682Abnormal dental enamel morphology0FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome233
HP:0000682HP:0000682Abnormal dental enamel morphology0GALNS CL E G H25884122OMIM:253000Morquio syndrome A123
HP:0000682HP:0000682Abnormal dental enamel morphology0GALNT3 CL E G H25914125OMIM:211900Tumoral calcinosis, hyperphosphatemic, familial, 146
HP:0000682HP:0000682Abnormal dental enamel morphology0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia68
HP:0000682HP:0000682Abnormal dental enamel morphology0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040281 - Very frequent68
HP:0000682HP:0000682Abnormal dental enamel morphology0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive.68
HP:0000682HP:0000682Abnormal dental enamel morphology0GLB1 CL E G H27204298OMIM:253010Mucopolysaccharidosis type IVB (Morquio)120
HP:0000682HP:0000682Abnormal dental enamel morphology0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0000682HP:0000682Abnormal dental enamel morphology0GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1B101
HP:0000682HP:0000682Abnormal dental enamel morphology0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1C101
HP:0000682HP:0000682Abnormal dental enamel morphology0GNAS CL E G H27784392OMIM:103580Pseudohypoparathyroidism, type IA101
HP:0000682HP:0000682Abnormal dental enamel morphology0GNAS CL E G H27784392OMIM:612462Pseudohypoparathyroidism, type IC101
HP:0000682HP:0000682Abnormal dental enamel morphology0GNAS CL E G H27784392OMIM:612463PSEUDOPSEUDOHYPOPARATHYROIDISM101
HP:0000682HP:0000682Abnormal dental enamel morphology0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000682HP:0000682Abnormal dental enamel morphology0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0000682HP:0000682Abnormal dental enamel morphology0GPR68 CL E G H81114519OMIM:617217AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A63
HP:0000682HP:0000682Abnormal dental enamel morphology0GRHL2 CL E G H799772799OMIM:616029Ectodermal dysplasia/short stature syndrome33
HP:0000682HP:0000682Abnormal dental enamel morphology0GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0000682HP:0000682Abnormal dental enamel morphology0GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0000682HP:0000682Abnormal dental enamel morphology0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000682HP:0000682Abnormal dental enamel morphology0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000682HP:0000682Abnormal dental enamel morphology0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000682HP:0000682Abnormal dental enamel morphology0HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional11
HP:0000682HP:0000682Abnormal dental enamel morphology0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0000682HP:0000682Abnormal dental enamel morphology0HLA-DQA1 CL E G H31174942OMIM:212750Celiac disease, susceptibility to, 1
HP:0000682HP:0000682Abnormal dental enamel morphology0HLA-DQB1 CL E G H31194944OMIM:212750Celiac disease, susceptibility to, 1
HP:0000682HP:0000682Abnormal dental enamel morphology0HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040282 - Frequent113
HP:0000682HP:0000682Abnormal dental enamel morphology0IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional93
HP:0000682HP:0000682Abnormal dental enamel morphology0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia93
HP:0000682HP:0000682Abnormal dental enamel morphology0IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional11
HP:0000682HP:0000682Abnormal dental enamel morphology0IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional4
HP:0000682HP:0000682Abnormal dental enamel morphology0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040283 - Occasional52
HP:0000682HP:0000682Abnormal dental enamel morphology0IL17F CL E G H11274416404ORPHA:1334Chronic mucocutaneous candidiasisHP:0040283 - Occasional14
HP:0000682HP:0000682Abnormal dental enamel morphology0IL17RA CL E G H237655985ORPHA:1334Chronic mucocutaneous candidiasisHP:0040283 - Occasional196
HP:0000682HP:0000682Abnormal dental enamel morphology0IL17RC CL E G H8481818358ORPHA:1334Chronic mucocutaneous candidiasisHP:0040283 - Occasional4
HP:0000682HP:0000682Abnormal dental enamel morphology0IRF6 CL E G H36646121ORPHA:99798Oligodontia99
HP:0000682HP:0000682Abnormal dental enamel morphology0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0000682HP:0000682Abnormal dental enamel morphology0ITGA6 CL E G H36556142ORPHA:79403Junctional epidermolysis bullosa with pyloric atresia79
HP:0000682HP:0000682Abnormal dental enamel morphology0ITGB4 CL E G H36916158OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia124
HP:0000682HP:0000682Abnormal dental enamel morphology0ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosa124
HP:0000682HP:0000682Abnormal dental enamel morphology0ITGB4 CL E G H36916158ORPHA:79403Junctional epidermolysis bullosa with pyloric atresia124
HP:0000682HP:0000682Abnormal dental enamel morphology0ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosa124
HP:0000682HP:0000682Abnormal dental enamel morphology0ITGB6 CL E G H36946161OMIM:616221AMELOGENESIS IMPERFECTA, TYPE IH; AI1H8
HP:0000682HP:0000682Abnormal dental enamel morphology0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0000682HP:0000682Abnormal dental enamel morphology0KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis193
HP:0000682HP:0000682Abnormal dental enamel morphology0KLK4 CL E G H96226365OMIM:204700Amelogenesis imperfecta, hypomaturation type, iia1.6
HP:0000682HP:0000682Abnormal dental enamel morphology0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form110
HP:0000682HP:0000682Abnormal dental enamel morphology0KRT14 CL E G H38616416ORPHA:69087Naegeli-Franceschetti-Jadassohn syndromeHP:0040281 - Very frequent110
HP:0000682HP:0000682Abnormal dental enamel morphology0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form173
HP:0000682HP:0000682Abnormal dental enamel morphology0LAMA3 CL E G H39096483OMIM:226700Epidermolysis bullosa, junctional, Herlitz type116
HP:0000682HP:0000682Abnormal dental enamel morphology0LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosa116
HP:0000682HP:0000682Abnormal dental enamel morphology0LAMA3 CL E G H39096483OMIM:245660Laryngoonychocutaneous syndrome116
HP:0000682HP:0000682Abnormal dental enamel morphology0LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosa116
HP:0000682HP:0000682Abnormal dental enamel morphology0LAMB3 CL E G H39146490OMIM:104530Amelogenesis imperfecta, type IA167
HP:0000682HP:0000682Abnormal dental enamel morphology0LAMB3 CL E G H39146490OMIM:226700Epidermolysis bullosa, junctional, Herlitz type167
HP:0000682HP:0000682Abnormal dental enamel morphology0LAMB3 CL E G H39146490OMIM:226650Epidermolysis bullosa, junctional, Non-Herlitz type167
HP:0000682HP:0000682Abnormal dental enamel morphology0LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosa167
HP:0000682HP:0000682Abnormal dental enamel morphology0LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosa167
HP:0000682HP:0000682Abnormal dental enamel morphology0LAMC2 CL E G H39186493OMIM:226700Epidermolysis bullosa, junctional, Herlitz type135
HP:0000682HP:0000682Abnormal dental enamel morphology0LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosa135
HP:0000682HP:0000682Abnormal dental enamel morphology0LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosa135
HP:0000682HP:0000682Abnormal dental enamel morphology0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000682HP:0000682Abnormal dental enamel morphology0LMX1B CL E G H40106654ORPHA:2614Nail-patella syndrome165
HP:0000682HP:0000682Abnormal dental enamel morphology0LONP1 CL E G H93619479ORPHA:1458CODAS syndromeHP:0040281 - Very frequent8
HP:0000682HP:0000682Abnormal dental enamel morphology0LONP1 CL E G H93619479OMIM:600373CODAS syndrome8
HP:0000682HP:0000682Abnormal dental enamel morphology0LRP4 CL E G H40386696OMIM:212780Cenani-Lenz syndactyly syndrome124
HP:0000682HP:0000682Abnormal dental enamel morphology0LRP4 CL E G H40386696ORPHA:3258Cenani-Lenz syndromeHP:0040283 - Occasional124
HP:0000682HP:0000682Abnormal dental enamel morphology0LRP6 CL E G H40406698ORPHA:99798Oligodontia26
HP:0000682HP:0000682Abnormal dental enamel morphology0LTBP3 CL E G H40546716OMIM:601216Dental anomalies and short stature12
HP:0000682HP:0000682Abnormal dental enamel morphology0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040283 - Occasional22
HP:0000682HP:0000682Abnormal dental enamel morphology0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000682HP:0000682Abnormal dental enamel morphology0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000682HP:0000682Abnormal dental enamel morphology0MMP1 CL E G H43127155OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive6
HP:0000682HP:0000682Abnormal dental enamel morphology0MMP20 CL E G H93137167OMIM:612529Amelogenesis imperfecta, hypomaturation type, iia2.37
HP:0000682HP:0000682Abnormal dental enamel morphology0MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0000682HP:0000682Abnormal dental enamel morphology0MSX1 CL E G H44877391ORPHA:99798Oligodontia12
HP:0000682HP:0000682Abnormal dental enamel morphology0MYO7A CL E G H46477606ORPHA:231169Usher syndrome type 1HP:0040283 - Occasional516
HP:0000682HP:0000682Abnormal dental enamel morphology0MYO7A CL E G H46477606ORPHA:231178Usher syndrome type 2HP:0040283 - Occasional516
HP:0000682HP:0000682Abnormal dental enamel morphology0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0000682HP:0000682Abnormal dental enamel morphology0NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional3
HP:0000682HP:0000682Abnormal dental enamel morphology0NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndromeHP:0040283 - Occasional4
HP:0000682HP:0000682Abnormal dental enamel morphology0NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 17
HP:0000682HP:0000682Abnormal dental enamel morphology0NF1 CL E G H47637765ORPHA:13947417q11.2 microduplication syndromeHP:0040282 - Frequent1952
HP:0000682HP:0000682Abnormal dental enamel morphology0NUP133 CL E G H5574618016OMIM:618349Galloway-Mowat syndrome 81
HP:0000682HP:0000682Abnormal dental enamel morphology0NUP85 CL E G H799028734ORPHA:808Seckel syndromeHP:0040282 - Frequent
HP:0000682HP:0000682Abnormal dental enamel morphology0OBSL1 CL E G H2336329092ORPHA:26163M syndromeHP:0040282 - Frequent143
HP:0000682HP:0000682Abnormal dental enamel morphology0OCRL CL E G H49528108OMIM:309000Lowe syndrome88
HP:0000682HP:0000682Abnormal dental enamel morphology0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040283 - Occasional88
HP:0000682HP:0000682Abnormal dental enamel morphology0ODAPH CL E G H15281626300OMIM:614832Amelogenesis imperfecta, hypomaturation type, iia46
HP:0000682HP:0000682Abnormal dental enamel morphology0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I201
HP:0000682HP:0000682Abnormal dental enamel morphology0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040283 - Occasional201
HP:0000682HP:0000682Abnormal dental enamel morphology0ORAI1 CL E G H8487625896OMIM:612782Immunodeficiency 919
HP:0000682HP:0000682Abnormal dental enamel morphology0P4HB CL E G H50348548ORPHA:2050Cole-Carpenter syndromeHP:0040282 - Frequent2
HP:0000682HP:0000682Abnormal dental enamel morphology0PAK2 CL E G H50628591OMIM:618458
HP:0000682HP:0000682Abnormal dental enamel morphology0PAX9 CL E G H50838623ORPHA:99798Oligodontia58
HP:0000682HP:0000682Abnormal dental enamel morphology0PCDH15 CL E G H6521714674ORPHA:231169Usher syndrome type 1HP:0040283 - Occasional352
HP:0000682HP:0000682Abnormal dental enamel morphology0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II531
HP:0000682HP:0000682Abnormal dental enamel morphology0PCNT CL E G H511616068ORPHA:808Seckel syndromeHP:0040282 - Frequent531
HP:0000682HP:0000682Abnormal dental enamel morphology0PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndromeHP:0040283 - Occasional113
HP:0000682HP:0000682Abnormal dental enamel morphology0PDZD7 CL E G H7995526257ORPHA:231178Usher syndrome type 2HP:0040283 - Occasional40
HP:0000682HP:0000682Abnormal dental enamel morphology0PEX1 CL E G H51898850ORPHA:3220Deafness-enamel hypoplasia-nail defects syndromeHP:0040281 - Very frequent169
HP:0000682HP:0000682Abnormal dental enamel morphology0PEX1 CL E G H51898850OMIM:234580Heimler syndrome 1169
HP:0000682HP:0000682Abnormal dental enamel morphology0PEX6 CL E G H51908859ORPHA:3220Deafness-enamel hypoplasia-nail defects syndromeHP:0040281 - Very frequent98
HP:0000682HP:0000682Abnormal dental enamel morphology0PEX6 CL E G H51908859OMIM:616617Heimler syndrome 298
HP:0000682HP:0000682Abnormal dental enamel morphology0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0000682HP:0000682Abnormal dental enamel morphology0PHEX CL E G H52518918OMIM:307800Hypophosphatemic rickets, X-linked dominant217
HP:0000682HP:0000682Abnormal dental enamel morphology0PIK3C2A CL E G H52868971ORPHA:557003Oculocerebrodental syndrome
HP:0000682HP:0000682Abnormal dental enamel morphology0PIK3R1 CL E G H52958979ORPHA:3163SHORT syndromeHP:0040282 - Frequent43
HP:0000682HP:0000682Abnormal dental enamel morphology0PLEC CL E G H53399069OMIM:226670Epidermolysis bullosa simplex with muscular dystrophy759
HP:0000682HP:0000682Abnormal dental enamel morphology0PLEC CL E G H53399069ORPHA:257Epidermolysis bullosa simplex with muscular dystrophyHP:0040282 - Frequent759
HP:0000682HP:0000682Abnormal dental enamel morphology0PLEC CL E G H53399069OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia759
HP:0000682HP:0000682Abnormal dental enamel morphology0PLK4 CL E G H1073311397ORPHA:808Seckel syndromeHP:0040282 - Frequent11
HP:0000682HP:0000682Abnormal dental enamel morphology0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional
HP:0000682HP:0000682Abnormal dental enamel morphology0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional38
HP:0000682HP:0000682Abnormal dental enamel morphology0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional31
HP:0000682HP:0000682Abnormal dental enamel morphology0PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040281 - Very frequent20
HP:0000682HP:0000682Abnormal dental enamel morphology0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:0000682HP:0000682Abnormal dental enamel morphology0PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfismHP:0040281 - Very frequent6
HP:0000682HP:0000682Abnormal dental enamel morphology0PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0000682HP:0000682Abnormal dental enamel morphology0RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0000682HP:0000682Abnormal dental enamel morphology0RBBP8 CL E G H59329891ORPHA:808Seckel syndromeHP:0040282 - Frequent68
HP:0000682HP:0000682Abnormal dental enamel morphology0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2HP:0040283 - Occasional445
HP:0000682HP:0000682Abnormal dental enamel morphology0RELT CL E G H8495713764OMIM:618386Amelogenesis imperfecta, type IIIC
HP:0000682HP:0000682Abnormal dental enamel morphology0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000682HP:0000682Abnormal dental enamel morphology0RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:0000682HP:0000682Abnormal dental enamel morphology0RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0000682HP:0000682Abnormal dental enamel morphology0ROGDI CL E G H7964129478ORPHA:1946Amelocerebrohypohidrotic syndromeHP:0040281 - Very frequent57
HP:0000682HP:0000682Abnormal dental enamel morphology0ROGDI CL E G H7964129478OMIM:226750Kohlschutter-Tonz syndrome57
HP:0000682HP:0000682Abnormal dental enamel morphology0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0000682HP:0000682Abnormal dental enamel morphology0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040281 - Very frequent90
HP:0000682HP:0000682Abnormal dental enamel morphology0RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia90
HP:0000682HP:0000682Abnormal dental enamel morphology0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000682HP:0000682Abnormal dental enamel morphology0SCUBE3 CL E G H22266313655OMIM:619184SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC21
HP:0000682HP:0000682Abnormal dental enamel morphology0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0000682HP:0000682Abnormal dental enamel morphology0SEC24D CL E G H987110706ORPHA:2050Cole-Carpenter syndromeHP:0040282 - Frequent5
HP:0000682HP:0000682Abnormal dental enamel morphology0SLC10A7 CL E G H8406823088OMIM:618363Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0000682HP:0000682Abnormal dental enamel morphology0SLC13A5 CL E G H28411123089ORPHA:1946Amelocerebrohypohidrotic syndromeHP:0040281 - Very frequent73
HP:0000682HP:0000682Abnormal dental enamel morphology0SLC13A5 CL E G H28411123089OMIM:615905Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta73
HP:0000682HP:0000682Abnormal dental enamel morphology0SLC24A4 CL E G H12304110978OMIM:615887Amelogenesis imperfecta, hypomaturation type, iia54
HP:0000682HP:0000682Abnormal dental enamel morphology0SLC29A3 CL E G H5531523096ORPHA:1782DysosteosclerosisHP:0040281 - Very frequent68
HP:0000682HP:0000682Abnormal dental enamel morphology0SLC35A2 CL E G H735511022OMIM:300896Congenital disorder of glycosylation, type IIm27
HP:0000682HP:0000682Abnormal dental enamel morphology0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0000682HP:0000682Abnormal dental enamel morphology0SMARCD2 CL E G H660311107OMIM:617475SPECIFIC GRANULE DEFICIENCY 2; SGD23
HP:0000682HP:0000682Abnormal dental enamel morphology0SMOC2 CL E G H6409420323OMIM:125400Dentin dysplasia, type I, with microdontia and misshapen teeth4
HP:0000682HP:0000682Abnormal dental enamel morphology0SP6 CL E G H8032014530OMIM:620104
HP:0000682HP:0000682Abnormal dental enamel morphology0STIM1 CL E G H678611386OMIM:612783Immunodeficiency 1031
HP:0000682HP:0000682Abnormal dental enamel morphology0STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1B86
HP:0000682HP:0000682Abnormal dental enamel morphology0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000682HP:0000682Abnormal dental enamel morphology0SUMO1 CL E G H734112502ORPHA:99798Oligodontia8
HP:0000682HP:0000682Abnormal dental enamel morphology0TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0000682HP:0000682Abnormal dental enamel morphology0TBCE CL E G H690511582ORPHA:2323Sanjad-Sakati syndromeHP:0040282 - Frequent52
HP:0000682HP:0000682Abnormal dental enamel morphology0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000682HP:0000682Abnormal dental enamel morphology0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:0000682HP:0000682Abnormal dental enamel morphology0TCIRG1 CL E G H1031211647ORPHA:1782DysosteosclerosisHP:0040281 - Very frequent82
HP:0000682HP:0000682Abnormal dental enamel morphology0TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional140
HP:0000682HP:0000682Abnormal dental enamel morphology0TGFA CL E G H703911765ORPHA:99798Oligodontia
HP:0000682HP:0000682Abnormal dental enamel morphology0TMEM165 CL E G H5585830760OMIM:614727Congenital disorder of glycosylation, type IIK24
HP:0000682HP:0000682Abnormal dental enamel morphology0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000682HP:0000682Abnormal dental enamel morphology0TNFRSF11A CL E G H879211908ORPHA:1782DysosteosclerosisHP:0040281 - Very frequent72
HP:0000682HP:0000682Abnormal dental enamel morphology0TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040281 - Very frequent140
HP:0000682HP:0000682Abnormal dental enamel morphology0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0000682HP:0000682Abnormal dental enamel morphology0TRAF3IP2 CL E G H107581343ORPHA:1334Chronic mucocutaneous candidiasisHP:0040283 - Occasional4
HP:0000682HP:0000682Abnormal dental enamel morphology0TRAIP CL E G H1029330764ORPHA:808Seckel syndromeHP:0040282 - Frequent2
HP:0000682HP:0000682Abnormal dental enamel morphology0TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism78
HP:0000682HP:0000682Abnormal dental enamel morphology0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0000682HP:0000682Abnormal dental enamel morphology0TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndrome26
HP:0000682HP:0000682Abnormal dental enamel morphology0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0000682HP:0000682Abnormal dental enamel morphology0USH1C CL E G H1008312597ORPHA:231169Usher syndrome type 1HP:0040283 - Occasional173
HP:0000682HP:0000682Abnormal dental enamel morphology0USH1G CL E G H12459016356ORPHA:231169Usher syndrome type 1HP:0040283 - Occasional78
HP:0000682HP:0000682Abnormal dental enamel morphology0USH2A CL E G H739912601ORPHA:231178Usher syndrome type 2HP:0040283 - Occasional777
HP:0000682HP:0000682Abnormal dental enamel morphology0VDR CL E G H742112679OMIM:277440Vitamin d-dependent rickets, type 2A104
HP:0000682HP:0000682Abnormal dental enamel morphology0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000682HP:0000682Abnormal dental enamel morphology0WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional95
HP:0000682HP:0000682Abnormal dental enamel morphology0WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional136
HP:0000682HP:0000682Abnormal dental enamel morphology0WDR72 CL E G H25676426790OMIM:613211Amelogenesis imperfecta, hypomaturation type, iia3137
HP:0000682HP:0000682Abnormal dental enamel morphology0WHRN CL E G H2586116361ORPHA:231178Usher syndrome type 2HP:0040283 - Occasional155
HP:0000682HP:0000682Abnormal dental enamel morphology0WNT10A CL E G H8032613829ORPHA:99798Oligodontia71
HP:0000682HP:0000682Abnormal dental enamel morphology0WNT10B CL E G H748012775ORPHA:99798Oligodontia4
HP:0000682HP:0033776Enamel pearls1 CL E G H
HP:0000682HP:0033786Hypomature enamel1 CL E G H
HP:0000682HP:0006297Enamel hypoplasia1ACP4 CL E G H9365014376OMIM:617297AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J7
HP:0000682HP:0000705Amelogenesis imperfecta1ACP4 CL E G H9365014376OMIM:617297AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J7
HP:0000682HP:0006297Enamel hypoplasia1AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0000682HP:0006297Enamel hypoplasia1ALDH3A2 CL E G H224403OMIM:270200Sjogren-Larsson syndrome.87
HP:0000682HP:0000705Amelogenesis imperfecta1AMBN CL E G H258452OMIM:616270AMELOGENESIS IMPERFECTA, TYPE IF; AI1F2
HP:0000682HP:0009722Dental enamel pits1AMBN CL E G H258452OMIM:616270AMELOGENESIS IMPERFECTA, TYPE IF; AI1F2
HP:0000682HP:0006297Enamel hypoplasia1AMBN CL E G H258452OMIM:616270AMELOGENESIS IMPERFECTA, TYPE IF; AI1F2
HP:0000682HP:0000705Amelogenesis imperfecta1AMELX CL E G H265461OMIM:301200Amelogenesis imperfecta, type IE.17
HP:0000682HP:0006297Enamel hypoplasia1AMELX CL E G H265461OMIM:301200Amelogenesis imperfecta, type IE.17
HP:0000682HP:0000705Amelogenesis imperfecta1AMTN CL E G H40113833188OMIM:617607AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B1
HP:0000682HP:0006285Enamel hypomineralization1AMTN CL E G H40113833188OMIM:617607AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B1
HP:0000682HP:0006297Enamel hypoplasia1ATR CL E G H545882OMIM:614564Cutaneous telangiectasia and cancer syndrome, familial.168
HP:0000682HP:0006297Enamel hypoplasia1ATR CL E G H545882OMIM:210600Seckel syndrome 1.168
HP:0000682HP:0006297Enamel hypoplasia1AXIN2 CL E G H8313904ORPHA:99798OligodontiaHP:0040283 - Occasional435
HP:0000682HP:0006297Enamel hypoplasia1CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000682HP:0006297Enamel hypoplasia1CLDN1 CL E G H90762032OMIM:607626Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis.11
HP:0000682HP:0000705Amelogenesis imperfecta1CLDN19 CL E G H1494612040OMIM:248190Hypomagnesemia 5, renal, with or without ocular involvementHP:0040284 - Very rare42
HP:0000682HP:0033785Enamel agenesis1CNNM4 CL E G H26504105OMIM:217080Jalili syndrome61
HP:0000682HP:0000705Amelogenesis imperfecta1CNNM4 CL E G H26504105ORPHA:1873Jalili syndromeHP:0040281 - Very frequent61
HP:0000682HP:0006297Enamel hypoplasia1COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0000682HP:0006297Enamel hypoplasia1COG6 CL E G H5751118621ORPHA:363523Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndromeHP:0040282 - Frequent71
HP:0000682HP:0006297Enamel hypoplasia1COG6 CL E G H5751118621OMIM:615328Shaheen syndrome.71
HP:0000682HP:0009722Dental enamel pits1COL17A1 CL E G H13082194OMIM:619787EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4129
HP:0000682HP:0006297Enamel hypoplasia1COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040283 - Occasional129
HP:0000682HP:0006297Enamel hypoplasia1COL17A1 CL E G H13082194ORPHA:79406Late-onset junctional epidermolysis bullosaHP:0040282 - Frequent129
HP:0000682HP:0006297Enamel hypoplasia1COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosaHP:0040282 - Frequent129
HP:0000682HP:0009722Dental enamel pits1COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosaHP:0040282 - Frequent129
HP:0000682HP:0006297Enamel hypoplasia1COL7A1 CL E G H12942214OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.263
HP:0000682HP:0006297Enamel hypoplasia1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1.291
HP:0000682HP:0006297Enamel hypoplasia1CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0000682HP:0006297Enamel hypoplasia1CYP27B1 CL E G H15942606ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040283 - Occasional41
HP:0000682HP:0006297Enamel hypoplasia1CYP27B1 CL E G H15942606OMIM:264700Vitamin D hydroxylation-deficient rickets, type 1A.41
HP:0000682HP:0006297Enamel hypoplasia1CYP2R1 CL E G H12022720580ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040283 - Occasional5
HP:0000682HP:0006297Enamel hypoplasia1DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 5HP:0040283 - Occasional2
HP:0000682HP:0006297Enamel hypoplasia1DLX3 CL E G H17472916OMIM:104510AMELOGENESIS IMPERFECTA, TYPE IV; AI448
HP:0000682HP:0000705Amelogenesis imperfecta1DLX3 CL E G H17472916OMIM:104510AMELOGENESIS IMPERFECTA, TYPE IV; AI448
HP:0000682HP:0006285Enamel hypomineralization1DLX3 CL E G H17472916ORPHA:3352Tricho-dento-osseous syndromeHP:0040282 - Frequent48
HP:0000682HP:0009722Dental enamel pits1DLX3 CL E G H17472916ORPHA:3352Tricho-dento-osseous syndromeHP:0040282 - Frequent48
HP:0000682HP:0000705Amelogenesis imperfecta1DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 3.5
HP:0000682HP:0006297Enamel hypoplasia1DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 3.5
HP:0000682HP:0009722Dental enamel pits1DSPP CL E G H18343054OMIM:125500Dentinogenesis imperfecta, shields type III38
HP:0000682HP:0006297Enamel hypoplasia1EDA CL E G H18963157ORPHA:99798OligodontiaHP:0040283 - Occasional115
HP:0000682HP:0006297Enamel hypoplasia1EDARADD CL E G H12817814341ORPHA:99798OligodontiaHP:0040283 - Occasional56
HP:0000682HP:0000705Amelogenesis imperfecta1ENAM CL E G H101173344OMIM:104500Amelogenesis imperfecta, type IB.50
HP:0000682HP:0006285Enamel hypomineralization1ENAM CL E G H101173344OMIM:204650Amelogenesis imperfecta, type IC.50
HP:0000682HP:0000705Amelogenesis imperfecta1ENAM CL E G H101173344OMIM:204650Amelogenesis imperfecta, type IC.50
HP:0000682HP:0006297Enamel hypoplasia1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1.250
HP:0000682HP:0006297Enamel hypoplasia1ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional20
HP:0000682HP:0006297Enamel hypoplasia1ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0000682HP:0006297Enamel hypoplasia1ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0000682HP:0006297Enamel hypoplasia1ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional158
HP:0000682HP:0006297Enamel hypoplasia1ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome.158
HP:0000682HP:0006297Enamel hypoplasia1ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional199
HP:0000682HP:0006297Enamel hypoplasia1ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional199
HP:0000682HP:0006297Enamel hypoplasia1ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040283 - Occasional199
HP:0000682HP:0006297Enamel hypoplasia1ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A55
HP:0000682HP:0006297Enamel hypoplasia1ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional55
HP:0000682HP:0006297Enamel hypoplasia1ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional55
HP:0000682HP:0006297Enamel hypoplasia1ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040283 - Occasional55
HP:0000682HP:0000705Amelogenesis imperfecta1FAM20A CL E G H5475723015OMIM:204690Enamel-Renal syndrome.16
HP:0000682HP:0000705Amelogenesis imperfecta1FAM20A CL E G H5475723015ORPHA:1031Enamel-renal syndromeHP:0040281 - Very frequent16
HP:0000682HP:0006297Enamel hypoplasia1FAM20C CL E G H5697522140OMIM:259775Raine syndromeHP:0040283 - Occasional35
HP:0000682HP:0000705Amelogenesis imperfecta1FAM83H CL E G H28607724797OMIM:130900Amelogenesis imperfecta, type III.22
HP:0000682HP:0006297Enamel hypoplasia1FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000682HP:0006297Enamel hypoplasia1FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome.17
HP:0000682HP:0006297Enamel hypoplasia1FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional17
HP:0000682HP:0006297Enamel hypoplasia1FGFR1 CL E G H22603688ORPHA:99798OligodontiaHP:0040283 - Occasional172
HP:0000682HP:0006297Enamel hypoplasia1FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome.175
HP:0000682HP:0006297Enamel hypoplasia1FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional175
HP:0000682HP:0006297Enamel hypoplasia1FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional145
HP:0000682HP:0006297Enamel hypoplasia1FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome.145
HP:0000682HP:0006297Enamel hypoplasia1FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome.233
HP:0000682HP:0000683Grayish enamel1GALNS CL E G H25884122OMIM:253000Morquio syndrome A.123
HP:0000682HP:0006297Enamel hypoplasia1GALNT3 CL E G H25914125OMIM:211900Tumoral calcinosis, hyperphosphatemic, familial, 1.46
HP:0000682HP:0006297Enamel hypoplasia1GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia.68
HP:0000682HP:0000683Grayish enamel1GLB1 CL E G H27204298OMIM:253010Mucopolysaccharidosis type IVB (Morquio).120
HP:0000682HP:0006297Enamel hypoplasia1GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040282 - Frequent101
HP:0000682HP:0006297Enamel hypoplasia1GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040282 - Frequent101
HP:0000682HP:0006297Enamel hypoplasia1GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040282 - Frequent101
HP:0000682HP:0006297Enamel hypoplasia1GNAS CL E G H27784392OMIM:103580Pseudohypoparathyroidism, type IA.101
HP:0000682HP:0006297Enamel hypoplasia1GNAS CL E G H27784392OMIM:612462Pseudohypoparathyroidism, type IC.101
HP:0000682HP:0006297Enamel hypoplasia1GNAS CL E G H27784392OMIM:612463PSEUDOPSEUDOHYPOPARATHYROIDISM.101
HP:0000682HP:0006297Enamel hypoplasia1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000682HP:0000705Amelogenesis imperfecta1GPR68 CL E G H81114519OMIM:617217AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A63
HP:0000682HP:0006285Enamel hypomineralization1GPR68 CL E G H81114519OMIM:617217AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A63
HP:0000682HP:0006297Enamel hypoplasia1GRHL2 CL E G H799772799OMIM:616029Ectodermal dysplasia/short stature syndrome.33
HP:0000682HP:0006297Enamel hypoplasia1GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0000682HP:0006297Enamel hypoplasia1GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000682HP:0006297Enamel hypoplasia1HLA-DQA1 CL E G H31174942OMIM:212750Celiac disease, susceptibility to, 1.
HP:0000682HP:0006297Enamel hypoplasia1HLA-DQB1 CL E G H31194944OMIM:212750Celiac disease, susceptibility to, 1.
HP:0000682HP:0006297Enamel hypoplasia1IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia.93
HP:0000682HP:0006297Enamel hypoplasia1IRF6 CL E G H36646121ORPHA:99798OligodontiaHP:0040283 - Occasional99
HP:0000682HP:0006297Enamel hypoplasia1IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0000682HP:0006297Enamel hypoplasia1ITGA6 CL E G H36556142ORPHA:79403Junctional epidermolysis bullosa with pyloric atresiaHP:0040282 - Frequent79
HP:0000682HP:0006297Enamel hypoplasia1ITGB4 CL E G H36916158OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia.124
HP:0000682HP:0006297Enamel hypoplasia1ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040283 - Occasional124
HP:0000682HP:0006297Enamel hypoplasia1ITGB4 CL E G H36916158ORPHA:79403Junctional epidermolysis bullosa with pyloric atresiaHP:0040282 - Frequent124
HP:0000682HP:0006297Enamel hypoplasia1ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosaHP:0040282 - Frequent124
HP:0000682HP:0009722Dental enamel pits1ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosaHP:0040282 - Frequent124
HP:0000682HP:0006297Enamel hypoplasia1ITGB6 CL E G H36946161OMIM:616221AMELOGENESIS IMPERFECTA, TYPE IH; AI1H8
HP:0000682HP:0000705Amelogenesis imperfecta1ITGB6 CL E G H36946161OMIM:616221AMELOGENESIS IMPERFECTA, TYPE IH; AI1H8
HP:0000682HP:0009722Dental enamel pits1ITGB6 CL E G H36946161OMIM:616221AMELOGENESIS IMPERFECTA, TYPE IH; AI1H8
HP:0000682HP:0006297Enamel hypoplasia1KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis.193
HP:0000682HP:0000705Amelogenesis imperfecta1KLK4 CL E G H96226365OMIM:204700Amelogenesis imperfecta, hypomaturation type, iia1.6
HP:0000682HP:0006297Enamel hypoplasia1KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040282 - Frequent110
HP:0000682HP:0006297Enamel hypoplasia1KRT14 CL E G H38616416ORPHA:69087Naegeli-Franceschetti-Jadassohn syndrome110
HP:0000682HP:0006297Enamel hypoplasia1KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040282 - Frequent173
HP:0000682HP:0006297Enamel hypoplasia1LAMA3 CL E G H39096483OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.116
HP:0000682HP:0006297Enamel hypoplasia1LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040283 - Occasional116
HP:0000682HP:0000705Amelogenesis imperfecta1LAMA3 CL E G H39096483OMIM:245660Laryngoonychocutaneous syndrome.116
HP:0000682HP:0006297Enamel hypoplasia1LAMA3 CL E G H39096483OMIM:245660Laryngoonychocutaneous syndrome116
HP:0000682HP:0006297Enamel hypoplasia1LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040281 - Very frequent116
HP:0000682HP:0000705Amelogenesis imperfecta1LAMB3 CL E G H39146490OMIM:104530Amelogenesis imperfecta, type IA.167
HP:0000682HP:0006297Enamel hypoplasia1LAMB3 CL E G H39146490OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.167
HP:0000682HP:0006297Enamel hypoplasia1LAMB3 CL E G H39146490OMIM:226650Epidermolysis bullosa, junctional, Non-Herlitz type167
HP:0000682HP:0006297Enamel hypoplasia1LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040283 - Occasional167
HP:0000682HP:0006297Enamel hypoplasia1LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040281 - Very frequent167
HP:0000682HP:0006297Enamel hypoplasia1LAMC2 CL E G H39186493OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.135
HP:0000682HP:0006297Enamel hypoplasia1LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040283 - Occasional135
HP:0000682HP:0006297Enamel hypoplasia1LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040281 - Very frequent135
HP:0000682HP:0006297Enamel hypoplasia1LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040283 - Occasional165
HP:0000682HP:0006297Enamel hypoplasia1LONP1 CL E G H93619479OMIM:600373CODAS syndrome8
HP:0000682HP:0006297Enamel hypoplasia1LRP4 CL E G H40386696OMIM:212780Cenani-Lenz syndactyly syndrome124
HP:0000682HP:0006297Enamel hypoplasia1LRP6 CL E G H40406698ORPHA:99798OligodontiaHP:0040283 - Occasional26
HP:0000682HP:0000705Amelogenesis imperfecta1LTBP3 CL E G H40546716OMIM:601216Dental anomalies and short stature.12
HP:0000682HP:0006297Enamel hypoplasia1MMP1 CL E G H43127155OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.6
HP:0000682HP:0000705Amelogenesis imperfecta1MMP20 CL E G H93137167OMIM:612529Amelogenesis imperfecta, hypomaturation type, iia2.37
HP:0000682HP:0006297Enamel hypoplasia1MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0000682HP:0006297Enamel hypoplasia1MSX1 CL E G H44877391ORPHA:99798OligodontiaHP:0040283 - Occasional12
HP:0000682HP:0006297Enamel hypoplasia1NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 1.7
HP:0000682HP:0006297Enamel hypoplasia1NF1 CL E G H47637765ORPHA:13947417q11.2 microduplication syndromeHP:0040282 - Frequent1952
HP:0000682HP:0006297Enamel hypoplasia1NUP133 CL E G H5574618016OMIM:618349Galloway-Mowat syndrome 8.1
HP:0000682HP:0006297Enamel hypoplasia1OCRL CL E G H49528108OMIM:309000Lowe syndrome.88
HP:0000682HP:0006297Enamel hypoplasia1ODAPH CL E G H15281626300OMIM:614832Amelogenesis imperfecta, hypomaturation type, iia4.6
HP:0000682HP:0006285Enamel hypomineralization1ODAPH CL E G H15281626300OMIM:614832Amelogenesis imperfecta, hypomaturation type, iia4.6
HP:0000682HP:0000705Amelogenesis imperfecta1ODAPH CL E G H15281626300OMIM:614832Amelogenesis imperfecta, hypomaturation type, iia4.6
HP:0000682HP:0006297Enamel hypoplasia1OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I.201
HP:0000682HP:0000705Amelogenesis imperfecta1ORAI1 CL E G H8487625896OMIM:612782Immunodeficiency 9.19
HP:0000682HP:0006297Enamel hypoplasia1PAK2 CL E G H50628591OMIM:618458
HP:0000682HP:0006297Enamel hypoplasia1PAX9 CL E G H50838623ORPHA:99798OligodontiaHP:0040283 - Occasional58
HP:0000682HP:0006297Enamel hypoplasia1PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II.531
HP:0000682HP:0006297Enamel hypoplasia1PEX1 CL E G H51898850OMIM:234580Heimler syndrome 1.169
HP:0000682HP:0000705Amelogenesis imperfecta1PEX1 CL E G H51898850OMIM:234580Heimler syndrome 1.169
HP:0000682HP:0000705Amelogenesis imperfecta1PEX6 CL E G H51908859OMIM:616617Heimler syndrome 298
HP:0000682HP:0006297Enamel hypoplasia1PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0000682HP:0006285Enamel hypomineralization1PHEX CL E G H52518918OMIM:307800Hypophosphatemic rickets, X-linked dominant.217
HP:0000682HP:0006297Enamel hypoplasia1PIK3C2A CL E G H52868971ORPHA:557003Oculocerebrodental syndromeHP:0040283 - Occasional
HP:0000682HP:0006297Enamel hypoplasia1PLEC CL E G H53399069OMIM:226670Epidermolysis bullosa simplex with muscular dystrophy.759
HP:0000682HP:0006297Enamel hypoplasia1PLEC CL E G H53399069OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia.759
HP:0000682HP:0006297Enamel hypoplasia1PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0000682HP:0033785Enamel agenesis1RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0000682HP:0000705Amelogenesis imperfecta1RELT CL E G H8495713764OMIM:618386Amelogenesis imperfecta, type IIIC
HP:0000682HP:0006285Enamel hypomineralization1RELT CL E G H8495713764OMIM:618386Amelogenesis imperfecta, type IIIC
HP:0000682HP:0006297Enamel hypoplasia1RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:0000682HP:0006297Enamel hypoplasia1RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000682HP:0000705Amelogenesis imperfecta1ROGDI CL E G H7964129478ORPHA:1946Amelocerebrohypohidrotic syndromeHP:0040281 - Very frequent57
HP:0000682HP:0000705Amelogenesis imperfecta1ROGDI CL E G H7964129478OMIM:226750Kohlschutter-Tonz syndrome.57
HP:0000682HP:0006297Enamel hypoplasia1ROGDI CL E G H7964129478OMIM:226750Kohlschutter-Tonz syndrome.57
HP:0000682HP:0006297Enamel hypoplasia1RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0000682HP:0000705Amelogenesis imperfecta1SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000682HP:0006297Enamel hypoplasia1SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000682HP:0006297Enamel hypoplasia1SCUBE3 CL E G H22266313655OMIM:619184SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC21
HP:0000682HP:0000705Amelogenesis imperfecta1SLC10A7 CL E G H8406823088OMIM:618363Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis.
HP:0000682HP:0000705Amelogenesis imperfecta1SLC13A5 CL E G H28411123089ORPHA:1946Amelocerebrohypohidrotic syndromeHP:0040281 - Very frequent73
HP:0000682HP:0000705Amelogenesis imperfecta1SLC13A5 CL E G H28411123089OMIM:615905Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta.73
HP:0000682HP:0000705Amelogenesis imperfecta1SLC24A4 CL E G H12304110978OMIM:615887Amelogenesis imperfecta, hypomaturation type, iia5.4
HP:0000682HP:0006297Enamel hypoplasia1SLC35A2 CL E G H735511022OMIM:300896Congenital disorder of glycosylation, type IIm27
HP:0000682HP:0006297Enamel hypoplasia1SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0000682HP:0000705Amelogenesis imperfecta1SMARCD2 CL E G H660311107OMIM:617475SPECIFIC GRANULE DEFICIENCY 2; SGD23
HP:0000682HP:0006297Enamel hypoplasia1SMOC2 CL E G H6409420323OMIM:125400Dentin dysplasia, type I, with microdontia and misshapen teeth4
HP:0000682HP:0000705Amelogenesis imperfecta1SP6 CL E G H8032014530OMIM:620104
HP:0000682HP:0006297Enamel hypoplasia1SP6 CL E G H8032014530OMIM:620104
HP:0000682HP:0000705Amelogenesis imperfecta1STIM1 CL E G H678611386OMIM:612783Immunodeficiency 10.31
HP:0000682HP:0006297Enamel hypoplasia1STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040282 - Frequent86
HP:0000682HP:0006297Enamel hypoplasia1SUMO1 CL E G H734112502ORPHA:99798OligodontiaHP:0040283 - Occasional8
HP:0000682HP:0006297Enamel hypoplasia1TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000682HP:0006297Enamel hypoplasia1TGFA CL E G H703911765ORPHA:99798OligodontiaHP:0040283 - Occasional
HP:0000682HP:0000705Amelogenesis imperfecta1TMEM165 CL E G H5585830760OMIM:614727Congenital disorder of glycosylation, type IIKHP:0040283 - Occasional24
HP:0000682HP:0006297Enamel hypoplasia1TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0000682HP:0006297Enamel hypoplasia1TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism78
HP:0000682HP:0009722Dental enamel pits1TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-1.1090
HP:0000682HP:0006297Enamel hypoplasia1TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndromeHP:0040284 - Very rare26
HP:0000682HP:0006297Enamel hypoplasia1VDR CL E G H742112679OMIM:277440Vitamin d-dependent rickets, type 2A.104
HP:0000682HP:0000705Amelogenesis imperfecta1WDR72 CL E G H25676426790OMIM:613211Amelogenesis imperfecta, hypomaturation type, iia3.137
HP:0000682HP:0006285Enamel hypomineralization1WDR72 CL E G H25676426790OMIM:613211Amelogenesis imperfecta, hypomaturation type, iia3.137
HP:0000682HP:0006297Enamel hypoplasia1WNT10A CL E G H8032613829ORPHA:99798OligodontiaHP:0040283 - Occasional71
HP:0000682HP:0006297Enamel hypoplasia1WNT10B CL E G H748012775ORPHA:99798OligodontiaHP:0040283 - Occasional4
HP:0000682HP:0011074Localized hypoplasia of dental enamel2 CL E G H
HP:0000682HP:0006282Generalized hypoplasia of dental enamel2 CL E G H
HP:0000682HP:0011084Hypocalcification of dental enamel2RELT CL E G H8495713764OMIM:618386Amelogenesis imperfecta, type IIIC
HP:0000682HP:0011085Hypomature dental enamel2WDR72 CL E G H25676426790OMIM:613211Amelogenesis imperfecta, hypomaturation type, iia3.137


Genes (212) :ACP4 ADGRV1 AIRE AKT1 ALDH3A2 AMBN AMELX AMTN ANAPC1 APC ARVCF ATR ATRIP AXIN2 BAZ1B BCL7B BUD23 CARS1 CCDC8 CDH23 CENPE CENPJ CEP152 CIB2 CLDN1 CLDN19 CLEC7A CLIP2 CNNM4 COG6 COL17A1 COL7A1 COMT COX7B CREBBP CTSK CUL7 CYP27B1 CYP2R1 DDX59 DHCR7 DLX3 DNAJC21 DNAJC30 DSPP EDA EDARADD EIF4H ELMO2 ELN ENAM EP300 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6 ERCC8 ESPN FAM20A FAM20C FAM83H FBXO28 FERMT1 FGF10 FGF3 FGFR1 FGFR2 FGFR3 FKBP6 FLNB GALNS GALNT3 GJA1 GLB1 GNAS GNB2 GP1BB GPR68 GRHL2 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 HCCS HIRA HLA-DQA1 HLA-DQB1 HRAS IFT122 IFT43 IFT52 IKBKG IL17F IL17RA IL17RC IRF6 IRX5 ITGA6 ITGB4 ITGB6 JMJD1C KCNJ2 KLK4 KRT14 KRT5 LAMA3 LAMB3 LAMC2 LIMK1 LMX1B LONP1 LRP4 LRP6 LTBP3 MBTPS2 METTL27 MLXIPL MMP1 MMP20 MPLKIP MSX1 MYO7A NCF1 NDUFB11 NECTIN1 NECTIN4 NF1 NUP133 NUP85 OBSL1 OCRL ODAPH OFD1 ORAI1 P4HB PAK2 PAX9 PCDH15 PCNT PDE4D PDZD7 PEX1 PEX6 PGAP1 PHEX PIK3C2A PIK3R1 PLEC PLK4 POLR1B POLR1C POLR1D PORCN PTDSS1 PTEN RAD21 RBBP8 RECQL4 RELT RFC2 RHOA RNF113A ROGDI RREB1 RUNX2 SATB1 SCUBE3 SEC24C SEC24D SLC10A7 SLC13A5 SLC24A4 SLC29A3 SLC35A2 SMARCA2 SMARCD2 SMOC2 SP6 STIM1 STX16 STX1A SUMO1 TARS1 TBCE TBL2 TBX1 TCIRG1 TCOF1 TGFA TMEM165 TMEM270 TNFRSF11A TP63 TRAF3IP2 TRAIP TRIM37 TSC1 TTC7A UFD1 USH1C USH1G USH2A VDR VPS37D WDR19 WDR35 WDR72 WHRN WNT10A WNT10B

Diseases (159) :OMIM:617297 ORPHA:231178 OMIM:240300 ORPHA:744 ORPHA:816 OMIM:270200 OMIM:616270 OMIM:301200 OMIM:617607 ORPHA:221008 ORPHA:3258 ORPHA:567 OMIM:614564 ORPHA:808 OMIM:210600 ORPHA:99798 ORPHA:904 ORPHA:33364 ORPHA:2616 ORPHA:231169 OMIM:607626 ORPHA:59303 OMIM:248190 ORPHA:1334 OMIM:217080 ORPHA:1873 OMIM:614576 ORPHA:363523 OMIM:615328 OMIM:619787 ORPHA:79402 ORPHA:79406 ORPHA:251393 OMIM:226600 ORPHA:2556 OMIM:180849 ORPHA:763 ORPHA:289157 OMIM:264700 ORPHA:2919 ORPHA:818 OMIM:104510 ORPHA:3352 OMIM:617052 OMIM:125500 ORPHA:3019 OMIM:104500 OMIM:204650 ORPHA:90322 ORPHA:90321 OMIM:610965 ORPHA:90324 OMIM:216400 ORPHA:1031 OMIM:204690 OMIM:259775 OMIM:130900 OMIM:619777 ORPHA:2908 OMIM:149730 ORPHA:2363 ORPHA:2791 OMIM:272460 OMIM:253000 OMIM:211900 OMIM:164200 ORPHA:2710 OMIM:257850 OMIM:253010 ORPHA:79443 ORPHA:94089 ORPHA:79444 OMIM:103580 OMIM:612462 OMIM:612463 OMIM:619503 OMIM:617217 OMIM:616029 OMIM:212750 ORPHA:3071 ORPHA:1515 OMIM:218330 ORPHA:464 OMIM:611174 ORPHA:79403 OMIM:226730 OMIM:616221 OMIM:170390 OMIM:204700 ORPHA:79396 ORPHA:69087 OMIM:226700 OMIM:245660 ORPHA:79404 OMIM:104530 OMIM:226650 ORPHA:2614 ORPHA:1458 OMIM:600373 OMIM:212780 OMIM:601216 ORPHA:2273 OMIM:612529 ORPHA:3253 OMIM:613573 ORPHA:139474 OMIM:618349 OMIM:309000 ORPHA:534 OMIM:614832 OMIM:311200 ORPHA:2750 OMIM:612782 ORPHA:2050 OMIM:618458 OMIM:210720 ORPHA:439822 ORPHA:3220 OMIM:234580 OMIM:616617 OMIM:615802 OMIM:307800 ORPHA:557003 ORPHA:3163 OMIM:226670 ORPHA:257 ORPHA:861 ORPHA:2092 OMIM:305600 ORPHA:2658 OMIM:614701 ORPHA:221016 OMIM:618386 OMIM:618727 ORPHA:1946 OMIM:226750 ORPHA:1452 OMIM:119600 OMIM:619229 OMIM:619184 OMIM:618363 OMIM:615905 OMIM:615887 ORPHA:1782 OMIM:300896 OMIM:619293 OMIM:617475 OMIM:125400 OMIM:620104 OMIM:612783 ORPHA:2323 OMIM:614727 ORPHA:1896 OMIM:129400 OMIM:253250 OMIM:191100 OMIM:243150 OMIM:277440 OMIM:613211
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.