Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ACP4 CL E G H | 93650 | 14376 | OMIM:617297 | AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J | | | | 7 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ADGRV1 CL E G H | 84059 | 17416 | ORPHA:231178 | Usher syndrome type 2 | HP:0040283 - Occasional | | | 530 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ALDH3A2 CL E G H | 224 | 403 | ORPHA:816 | Sjögren-Larsson syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ALDH3A2 CL E G H | 224 | 403 | OMIM:270200 | Sjogren-Larsson syndrome | | | | 87 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | AMBN CL E G H | 258 | 452 | OMIM:616270 | AMELOGENESIS IMPERFECTA, TYPE IF; AI1F | | | | 2 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | AMELX CL E G H | 265 | 461 | OMIM:301200 | Amelogenesis imperfecta, type IE | | | | 17 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | AMTN CL E G H | 401138 | 33188 | OMIM:617607 | AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B | | | | 1 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ANAPC1 CL E G H | 64682 | 19988 | ORPHA:221008 | Rothmund-Thomson syndrome type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | APC CL E G H | 324 | 583 | ORPHA:3258 | Cenani-Lenz syndrome | HP:0040283 - Occasional | | | 3179 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ATR CL E G H | 545 | 882 | OMIM:614564 | Cutaneous telangiectasia and cancer syndrome, familial | | | | 168 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ATR CL E G H | 545 | 882 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 168 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ATR CL E G H | 545 | 882 | OMIM:210600 | Seckel syndrome 1 | | | | 168 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ATRIP CL E G H | 84126 | 33499 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | AXIN2 CL E G H | 8313 | 904 | ORPHA:99798 | Oligodontia | | | | 435 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | CCDC8 CL E G H | 83987 | 25367 | ORPHA:2616 | 3M syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:231169 | Usher syndrome type 1 | HP:0040283 - Occasional | | | 636 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | CENPE CL E G H | 1062 | 1856 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 20 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | CENPJ CL E G H | 55835 | 17272 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 161 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | CEP152 CL E G H | 22995 | 29298 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 146 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | CIB2 CL E G H | 10518 | 24579 | ORPHA:231169 | Usher syndrome type 1 | HP:0040283 - Occasional | | | 15 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | CLDN1 CL E G H | 9076 | 2032 | OMIM:607626 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis | | | | 11 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | CLDN1 CL E G H | 9076 | 2032 | ORPHA:59303 | Neonatal ichthyosis-sclerosing cholangitis syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | CLDN19 CL E G H | 149461 | 2040 | OMIM:248190 | Hypomagnesemia 5, renal, with or without ocular involvement | | | | 42 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | CLEC7A CL E G H | 64581 | 14558 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040283 - Occasional | | | 3 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | CNNM4 CL E G H | 26504 | 105 | ORPHA:1873 | Jalili syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | CNNM4 CL E G H | 26504 | 105 | OMIM:217080 | Jalili syndrome | | | | 61 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | COG6 CL E G H | 57511 | 18621 | OMIM:614576 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L | | | | 71 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | COG6 CL E G H | 57511 | 18621 | ORPHA:363523 | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | | | | 71 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | COG6 CL E G H | 57511 | 18621 | OMIM:615328 | Shaheen syndrome | | | | 71 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | COL17A1 CL E G H | 1308 | 2194 | OMIM:619787 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4 | | | | 129 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 129 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:79406 | Late-onset junctional epidermolysis bullosa | | | | 129 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:251393 | Localized junctional epidermolysis bullosa | | | | 129 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | COL7A1 CL E G H | 1294 | 2214 | OMIM:226600 | Epidermolysis bullosa dystrophica, autosomal recessive | | | | 263 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | COX7B CL E G H | 1349 | 2291 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | | | | 39 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | CUL7 CL E G H | 9820 | 21024 | ORPHA:2616 | 3M syndrome | HP:0040282 - Frequent | | | 127 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | CYP27B1 CL E G H | 1594 | 2606 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | | | | 41 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | CYP27B1 CL E G H | 1594 | 2606 | OMIM:264700 | Vitamin D hydroxylation-deficient rickets, type 1A | | | | 41 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | CYP2R1 CL E G H | 120227 | 20580 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | | | | 5 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | DDX59 CL E G H | 83479 | 25360 | ORPHA:2919 | Orofaciodigital syndrome type 5 | | | | 2 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040283 - Occasional | | | 159 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | DLX3 CL E G H | 1747 | 2916 | OMIM:104510 | AMELOGENESIS IMPERFECTA, TYPE IV; AI4 | | | | 48 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | DLX3 CL E G H | 1747 | 2916 | ORPHA:3352 | Tricho-dento-osseous syndrome | | | | 48 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:617052 | Bone marrow failure syndrome 3 | | | | 5 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | DSPP CL E G H | 1834 | 3054 | OMIM:125500 | Dentinogenesis imperfecta, shields type III | | | | 38 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | EDA CL E G H | 1896 | 3157 | ORPHA:99798 | Oligodontia | | | | 115 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | EDARADD CL E G H | 128178 | 14341 | ORPHA:99798 | Oligodontia | | | | 56 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ELMO2 CL E G H | 63916 | 17233 | ORPHA:3019 | Ramon syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 172 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ENAM CL E G H | 10117 | 3344 | OMIM:104500 | Amelogenesis imperfecta, type IB | | | | 50 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ENAM CL E G H | 10117 | 3344 | OMIM:204650 | Amelogenesis imperfecta, type IC | | | | 50 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:90322 | Cockayne syndrome type 2 | | | | 20 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | | | | 106 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | | | | 54 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 158 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ERCC4 CL E G H | 2072 | 3436 | OMIM:610965 | XFE progeroid syndrome | | | | 158 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 199 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90322 | Cockayne syndrome type 2 | | | | 199 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | | | | 199 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | | | | 55 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 55 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90322 | Cockayne syndrome type 2 | | | | 55 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | | | | 55 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ESPN CL E G H | 83715 | 13281 | ORPHA:231169 | Usher syndrome type 1 | HP:0040283 - Occasional | | | 33 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | FAM20A CL E G H | 54757 | 23015 | ORPHA:1031 | Enamel-renal syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | FAM20A CL E G H | 54757 | 23015 | OMIM:204690 | Enamel-Renal syndrome | | | | 16 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | FAM20C CL E G H | 56975 | 22140 | OMIM:259775 | Raine syndrome | | | | 35 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | FAM83H CL E G H | 286077 | 24797 | OMIM:130900 | Amelogenesis imperfecta, type III | | | | 22 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | FERMT1 CL E G H | 55612 | 15889 | ORPHA:2908 | Kindler epidermolysis bullosa | HP:0040282 - Frequent | | | 136 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040282 - Frequent | | | 17 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | FGF3 CL E G H | 2248 | 3681 | ORPHA:2791 | Otodental syndrome | HP:0040282 - Frequent | | | 18 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:99798 | Oligodontia | | | | 172 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040282 - Frequent | | | 175 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:272460 | Spondylocarpotarsal synostosis syndrome | | | | 233 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | GALNS CL E G H | 2588 | 4122 | OMIM:253000 | Morquio syndrome A | | | | 123 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | GALNT3 CL E G H | 2591 | 4125 | OMIM:211900 | Tumoral calcinosis, hyperphosphatemic, familial, 1 | | | | 46 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | | | | 68 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040281 - Very frequent | | | 68 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:257850 | Oculodentodigital dysplasia, autosomal recessive | . | | | 68 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:253010 | Mucopolysaccharidosis type IVB (Morquio) | | | | 120 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | | | | 101 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | | | | 101 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | | | | 101 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:103580 | Pseudohypoparathyroidism, type IA | | | | 101 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:612462 | Pseudohypoparathyroidism, type IC | | | | 101 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:612463 | PSEUDOPSEUDOHYPOPARATHYROIDISM | | | | 101 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | GPR68 CL E G H | 8111 | 4519 | OMIM:617217 | AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A6 | | | | 3 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | GRHL2 CL E G H | 79977 | 2799 | OMIM:616029 | Ectodermal dysplasia/short stature syndrome | | | | 33 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | | | | 2 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | HCCS CL E G H | 3052 | 4837 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | HLA-DQA1 CL E G H | 3117 | 4942 | OMIM:212750 | Celiac disease, susceptibility to, 1 | | | | | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:212750 | Celiac disease, susceptibility to, 1 | | | | | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:3071 | Costello syndrome | HP:0040282 - Frequent | | | 113 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | | | | 93 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | IFT122 CL E G H | 55764 | 13556 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040283 - Occasional | | | 93 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | IFT43 CL E G H | 112752 | 29669 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040283 - Occasional | | | 11 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | IFT52 CL E G H | 51098 | 15901 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040283 - Occasional | | | 4 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | HP:0040283 - Occasional | | | 52 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | IL17F CL E G H | 112744 | 16404 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040283 - Occasional | | | 14 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | IL17RA CL E G H | 23765 | 5985 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040283 - Occasional | | | 196 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | IL17RC CL E G H | 84818 | 18358 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040283 - Occasional | | | 4 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:99798 | Oligodontia | | | | 99 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | | | | 4 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ITGA6 CL E G H | 3655 | 6142 | ORPHA:79403 | Junctional epidermolysis bullosa with pyloric atresia | | | | 79 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ITGB4 CL E G H | 3691 | 6158 | OMIM:226730 | Epidermolysis bullosa, junctional, with pyloric atresia | | | | 124 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 124 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:79403 | Junctional epidermolysis bullosa with pyloric atresia | | | | 124 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:251393 | Localized junctional epidermolysis bullosa | | | | 124 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ITGB6 CL E G H | 3694 | 6161 | OMIM:616221 | AMELOGENESIS IMPERFECTA, TYPE IH; AI1H | | | | 8 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:170390 | Andersen cardiodysrhythmic periodic paralysis | | | | 193 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | KLK4 CL E G H | 9622 | 6365 | OMIM:204700 | Amelogenesis imperfecta, hypomaturation type, iia1 | . | | | 6 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | | | | 110 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:69087 | Naegeli-Franceschetti-Jadassohn syndrome | HP:0040281 - Very frequent | | | 110 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | | | | 173 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | LAMA3 CL E G H | 3909 | 6483 | OMIM:226700 | Epidermolysis bullosa, junctional, Herlitz type | | | | 116 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 116 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | LAMA3 CL E G H | 3909 | 6483 | OMIM:245660 | Laryngoonychocutaneous syndrome | | | | 116 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | | | | 116 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | LAMB3 CL E G H | 3914 | 6490 | OMIM:104530 | Amelogenesis imperfecta, type IA | | | | 167 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | LAMB3 CL E G H | 3914 | 6490 | OMIM:226700 | Epidermolysis bullosa, junctional, Herlitz type | | | | 167 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | LAMB3 CL E G H | 3914 | 6490 | OMIM:226650 | Epidermolysis bullosa, junctional, Non-Herlitz type | | | | 167 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 167 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | | | | 167 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | LAMC2 CL E G H | 3918 | 6493 | OMIM:226700 | Epidermolysis bullosa, junctional, Herlitz type | | | | 135 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 135 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | | | | 135 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | | | | 165 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | LONP1 CL E G H | 9361 | 9479 | ORPHA:1458 | CODAS syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | LONP1 CL E G H | 9361 | 9479 | OMIM:600373 | CODAS syndrome | | | | 8 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | LRP4 CL E G H | 4038 | 6696 | OMIM:212780 | Cenani-Lenz syndactyly syndrome | | | | 124 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | LRP4 CL E G H | 4038 | 6696 | ORPHA:3258 | Cenani-Lenz syndrome | HP:0040283 - Occasional | | | 124 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | LRP6 CL E G H | 4040 | 6698 | ORPHA:99798 | Oligodontia | | | | 26 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | LTBP3 CL E G H | 4054 | 6716 | OMIM:601216 | Dental anomalies and short stature | | | | 12 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | MMP1 CL E G H | 4312 | 7155 | OMIM:226600 | Epidermolysis bullosa dystrophica, autosomal recessive | | | | 6 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | MMP20 CL E G H | 9313 | 7167 | OMIM:612529 | Amelogenesis imperfecta, hypomaturation type, iia2 | . | | | 37 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | | | | 9 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:99798 | Oligodontia | | | | 12 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | MYO7A CL E G H | 4647 | 7606 | ORPHA:231169 | Usher syndrome type 1 | HP:0040283 - Occasional | | | 516 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | MYO7A CL E G H | 4647 | 7606 | ORPHA:231178 | Usher syndrome type 2 | HP:0040283 - Occasional | | | 516 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | NECTIN4 CL E G H | 81607 | 19688 | OMIM:613573 | Ectodermal dysplasia-syndactyly syndrome 1 | | | | 7 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:139474 | 17q11.2 microduplication syndrome | HP:0040282 - Frequent | | | 1952 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | NUP133 CL E G H | 55746 | 18016 | OMIM:618349 | Galloway-Mowat syndrome 8 | | | | 1 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | NUP85 CL E G H | 79902 | 8734 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | OBSL1 CL E G H | 23363 | 29092 | ORPHA:2616 | 3M syndrome | HP:0040282 - Frequent | | | 143 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | OCRL CL E G H | 4952 | 8108 | OMIM:309000 | Lowe syndrome | | | | 88 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040283 - Occasional | | | 88 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ODAPH CL E G H | 152816 | 26300 | OMIM:614832 | Amelogenesis imperfecta, hypomaturation type, iia4 | | | | 6 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:311200 | Orofaciodigital syndrome I | | | | 201 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | HP:0040283 - Occasional | | | 201 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ORAI1 CL E G H | 84876 | 25896 | OMIM:612782 | Immunodeficiency 9 | | | | 19 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | P4HB CL E G H | 5034 | 8548 | ORPHA:2050 | Cole-Carpenter syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | PAK2 CL E G H | 5062 | 8591 | OMIM:618458 | | | | | | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | PAX9 CL E G H | 5083 | 8623 | ORPHA:99798 | Oligodontia | | | | 58 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | PCDH15 CL E G H | 65217 | 14674 | ORPHA:231169 | Usher syndrome type 1 | HP:0040283 - Occasional | | | 352 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | | | | 531 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | PCNT CL E G H | 5116 | 16068 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 531 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:439822 | PDE4D haploinsufficiency syndrome | HP:0040283 - Occasional | | | 113 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | PDZD7 CL E G H | 79955 | 26257 | ORPHA:231178 | Usher syndrome type 2 | HP:0040283 - Occasional | | | 40 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:3220 | Deafness-enamel hypoplasia-nail defects syndrome | HP:0040281 - Very frequent | | | 169 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:234580 | Heimler syndrome 1 | | | | 169 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:3220 | Deafness-enamel hypoplasia-nail defects syndrome | HP:0040281 - Very frequent | | | 98 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | PEX6 CL E G H | 5190 | 8859 | OMIM:616617 | Heimler syndrome 2 | | | | 98 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | PGAP1 CL E G H | 80055 | 25712 | OMIM:615802 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42 | | | | 20 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | PHEX CL E G H | 5251 | 8918 | OMIM:307800 | Hypophosphatemic rickets, X-linked dominant | | | | 217 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | PIK3C2A CL E G H | 5286 | 8971 | ORPHA:557003 | Oculocerebrodental syndrome | | | | | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:3163 | SHORT syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:226670 | Epidermolysis bullosa simplex with muscular dystrophy | | | | 759 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:257 | Epidermolysis bullosa simplex with muscular dystrophy | HP:0040282 - Frequent | | | 759 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:226730 | Epidermolysis bullosa, junctional, with pyloric atresia | | | | 759 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | PLK4 CL E G H | 10733 | 11397 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | POLR1B CL E G H | 84172 | 20454 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | POLR1C CL E G H | 9533 | 20194 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 38 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | POLR1D CL E G H | 51082 | 20422 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | | | | 20 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | HP:0040281 - Very frequent | | | 20 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | PTDSS1 CL E G H | 9791 | 9587 | ORPHA:2658 | Lenz-Majewski hyperostotic dwarfism | HP:0040281 - Very frequent | | | 6 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | RAD21 CL E G H | 5885 | 9811 | OMIM:614701 | Cornelia de Lange syndrome 4 | | | | 25 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | RBBP8 CL E G H | 5932 | 9891 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 68 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:221016 | Rothmund-Thomson syndrome type 2 | HP:0040283 - Occasional | | | 445 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | RELT CL E G H | 84957 | 13764 | OMIM:618386 | Amelogenesis imperfecta, type IIIC | | | | | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | RHOA CL E G H | 387 | 667 | OMIM:618727 | ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB | | | | 8 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ROGDI CL E G H | 79641 | 29478 | ORPHA:1946 | Amelocerebrohypohidrotic syndrome | HP:0040281 - Very frequent | | | 57 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | ROGDI CL E G H | 79641 | 29478 | OMIM:226750 | Kohlschutter-Tonz syndrome | | | | 57 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | HP:0040281 - Very frequent | | | 90 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | RUNX2 CL E G H | 860 | 10472 | OMIM:119600 | Cleidocranial dysplasia | | | | 90 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | SATB1 CL E G H | 6304 | 10541 | OMIM:619229 | KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL | | | | | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | SCUBE3 CL E G H | 222663 | 13655 | OMIM:619184 | SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2 | | | | 1 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | SEC24D CL E G H | 9871 | 10706 | ORPHA:2050 | Cole-Carpenter syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | SLC10A7 CL E G H | 84068 | 23088 | OMIM:618363 | Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis | | | | | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | SLC13A5 CL E G H | 284111 | 23089 | ORPHA:1946 | Amelocerebrohypohidrotic syndrome | HP:0040281 - Very frequent | | | 73 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | SLC13A5 CL E G H | 284111 | 23089 | OMIM:615905 | Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta | | | | 73 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | SLC24A4 CL E G H | 123041 | 10978 | OMIM:615887 | Amelogenesis imperfecta, hypomaturation type, iia5 | | | | 4 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:1782 | Dysosteosclerosis | HP:0040281 - Very frequent | | | 68 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | SLC35A2 CL E G H | 7355 | 11022 | OMIM:300896 | Congenital disorder of glycosylation, type IIm | | | | 27 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | SMARCD2 CL E G H | 6603 | 11107 | OMIM:617475 | SPECIFIC GRANULE DEFICIENCY 2; SGD2 | | | | 3 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | SMOC2 CL E G H | 64094 | 20323 | OMIM:125400 | Dentin dysplasia, type I, with microdontia and misshapen teeth | | | | 4 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | SP6 CL E G H | 80320 | 14530 | OMIM:620104 | | | | | | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:612783 | Immunodeficiency 10 | | | | 31 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | STX16 CL E G H | 8675 | 11431 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | | | | 86 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | SUMO1 CL E G H | 7341 | 12502 | ORPHA:99798 | Oligodontia | | | | 8 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:2323 | Sanjad-Sakati syndrome | HP:0040282 - Frequent | | | 52 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:1782 | Dysosteosclerosis | HP:0040281 - Very frequent | | | 82 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | TCOF1 CL E G H | 6949 | 11654 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | TGFA CL E G H | 7039 | 11765 | ORPHA:99798 | Oligodontia | | | | | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | TMEM165 CL E G H | 55858 | 30760 | OMIM:614727 | Congenital disorder of glycosylation, type IIK | | | | 24 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | TNFRSF11A CL E G H | 8792 | 11908 | ORPHA:1782 | Dysosteosclerosis | HP:0040281 - Very frequent | | | 72 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | | | | 140 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | TRAF3IP2 CL E G H | 10758 | 1343 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040283 - Occasional | | | 4 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | TRAIP CL E G H | 10293 | 30764 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | | | | 78 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | TSC1 CL E G H | 7248 | 12362 | OMIM:191100 | Tuberous sclerosis-1 | | | | 1090 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | | | | 26 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | USH1C CL E G H | 10083 | 12597 | ORPHA:231169 | Usher syndrome type 1 | HP:0040283 - Occasional | | | 173 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | USH1G CL E G H | 124590 | 16356 | ORPHA:231169 | Usher syndrome type 1 | HP:0040283 - Occasional | | | 78 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | USH2A CL E G H | 7399 | 12601 | ORPHA:231178 | Usher syndrome type 2 | HP:0040283 - Occasional | | | 777 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | VDR CL E G H | 7421 | 12679 | OMIM:277440 | Vitamin d-dependent rickets, type 2A | | | | 104 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040283 - Occasional | | | 95 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040283 - Occasional | | | 136 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | WDR72 CL E G H | 256764 | 26790 | OMIM:613211 | Amelogenesis imperfecta, hypomaturation type, iia3 | | | | 137 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | WHRN CL E G H | 25861 | 16361 | ORPHA:231178 | Usher syndrome type 2 | HP:0040283 - Occasional | | | 155 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | WNT10A CL E G H | 80326 | 13829 | ORPHA:99798 | Oligodontia | | | | 71 | | |
HP:0000682 | HP:0000682 | Abnormal dental enamel morphology | 0 | WNT10B CL E G H | 7480 | 12775 | ORPHA:99798 | Oligodontia | | | | 4 | | |
HP:0000682 | HP:0033786 | Hypomature enamel | 1 | CL E G H | | | | | | | | | | |
HP:0000682 | HP:0033776 | Enamel pearls | 1 | CL E G H | | | | | | | | | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | ACP4 CL E G H | 93650 | 14376 | OMIM:617297 | AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J | | | | 7 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | ACP4 CL E G H | 93650 | 14376 | OMIM:617297 | AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J | | | | 7 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | ALDH3A2 CL E G H | 224 | 403 | OMIM:270200 | Sjogren-Larsson syndrome | . | | | 87 | | |
HP:0000682 | HP:0009722 | Dental enamel pits | 1 | AMBN CL E G H | 258 | 452 | OMIM:616270 | AMELOGENESIS IMPERFECTA, TYPE IF; AI1F | | | | 2 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | AMBN CL E G H | 258 | 452 | OMIM:616270 | AMELOGENESIS IMPERFECTA, TYPE IF; AI1F | | | | 2 | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | AMBN CL E G H | 258 | 452 | OMIM:616270 | AMELOGENESIS IMPERFECTA, TYPE IF; AI1F | | | | 2 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | AMELX CL E G H | 265 | 461 | OMIM:301200 | Amelogenesis imperfecta, type IE | . | | | 17 | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | AMELX CL E G H | 265 | 461 | OMIM:301200 | Amelogenesis imperfecta, type IE | . | | | 17 | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | AMTN CL E G H | 401138 | 33188 | OMIM:617607 | AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B | | | | 1 | | |
HP:0000682 | HP:0006285 | Enamel hypomineralization | 1 | AMTN CL E G H | 401138 | 33188 | OMIM:617607 | AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B | | | | 1 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | ATR CL E G H | 545 | 882 | OMIM:614564 | Cutaneous telangiectasia and cancer syndrome, familial | . | | | 168 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | ATR CL E G H | 545 | 882 | OMIM:210600 | Seckel syndrome 1 | . | | | 168 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | AXIN2 CL E G H | 8313 | 904 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 435 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | CLDN1 CL E G H | 9076 | 2032 | OMIM:607626 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis | . | | | 11 | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | CLDN19 CL E G H | 149461 | 2040 | OMIM:248190 | Hypomagnesemia 5, renal, with or without ocular involvement | HP:0040284 - Very rare | | | 42 | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | CNNM4 CL E G H | 26504 | 105 | ORPHA:1873 | Jalili syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0000682 | HP:0033785 | Enamel agenesis | 1 | CNNM4 CL E G H | 26504 | 105 | OMIM:217080 | Jalili syndrome | | | | 61 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | COG6 CL E G H | 57511 | 18621 | OMIM:614576 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L | | | | 71 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | COG6 CL E G H | 57511 | 18621 | ORPHA:363523 | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | HP:0040282 - Frequent | | | 71 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | COG6 CL E G H | 57511 | 18621 | OMIM:615328 | Shaheen syndrome | . | | | 71 | | |
HP:0000682 | HP:0009722 | Dental enamel pits | 1 | COL17A1 CL E G H | 1308 | 2194 | OMIM:619787 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4 | | | | 129 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 129 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:79406 | Late-onset junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 129 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:251393 | Localized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 129 | | |
HP:0000682 | HP:0009722 | Dental enamel pits | 1 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:251393 | Localized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 129 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | COL7A1 CL E G H | 1294 | 2214 | OMIM:226600 | Epidermolysis bullosa dystrophica, autosomal recessive | . | | | 263 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | . | | | 291 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | | | | 39 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | CYP27B1 CL E G H | 1594 | 2606 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040283 - Occasional | | | 41 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | CYP27B1 CL E G H | 1594 | 2606 | OMIM:264700 | Vitamin D hydroxylation-deficient rickets, type 1A | . | | | 41 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | CYP2R1 CL E G H | 120227 | 20580 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040283 - Occasional | | | 5 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | DDX59 CL E G H | 83479 | 25360 | ORPHA:2919 | Orofaciodigital syndrome type 5 | HP:0040283 - Occasional | | | 2 | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | DLX3 CL E G H | 1747 | 2916 | OMIM:104510 | AMELOGENESIS IMPERFECTA, TYPE IV; AI4 | | | | 48 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | DLX3 CL E G H | 1747 | 2916 | OMIM:104510 | AMELOGENESIS IMPERFECTA, TYPE IV; AI4 | | | | 48 | | |
HP:0000682 | HP:0009722 | Dental enamel pits | 1 | DLX3 CL E G H | 1747 | 2916 | ORPHA:3352 | Tricho-dento-osseous syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0000682 | HP:0006285 | Enamel hypomineralization | 1 | DLX3 CL E G H | 1747 | 2916 | ORPHA:3352 | Tricho-dento-osseous syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:617052 | Bone marrow failure syndrome 3 | . | | | 5 | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:617052 | Bone marrow failure syndrome 3 | . | | | 5 | | |
HP:0000682 | HP:0009722 | Dental enamel pits | 1 | DSPP CL E G H | 1834 | 3054 | OMIM:125500 | Dentinogenesis imperfecta, shields type III | | | | 38 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | EDA CL E G H | 1896 | 3157 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 115 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | EDARADD CL E G H | 128178 | 14341 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 56 | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | ENAM CL E G H | 10117 | 3344 | OMIM:104500 | Amelogenesis imperfecta, type IB | . | | | 50 | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | ENAM CL E G H | 10117 | 3344 | OMIM:204650 | Amelogenesis imperfecta, type IC | . | | | 50 | | |
HP:0000682 | HP:0006285 | Enamel hypomineralization | 1 | ENAM CL E G H | 10117 | 3344 | OMIM:204650 | Amelogenesis imperfecta, type IC | . | | | 50 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | . | | | 250 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 20 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 158 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | ERCC4 CL E G H | 2072 | 3436 | OMIM:610965 | XFE progeroid syndrome | . | | | 158 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 199 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 199 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040283 - Occasional | | | 199 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | | | | 55 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 55 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 55 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040283 - Occasional | | | 55 | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | FAM20A CL E G H | 54757 | 23015 | ORPHA:1031 | Enamel-renal syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | FAM20A CL E G H | 54757 | 23015 | OMIM:204690 | Enamel-Renal syndrome | . | | | 16 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | FAM20C CL E G H | 56975 | 22140 | OMIM:259775 | Raine syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | FAM83H CL E G H | 286077 | 24797 | OMIM:130900 | Amelogenesis imperfecta, type III | . | | | 22 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 17 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 172 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 175 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 145 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | FLNB CL E G H | 2317 | 3755 | OMIM:272460 | Spondylocarpotarsal synostosis syndrome | . | | | 233 | | |
HP:0000682 | HP:0000683 | Grayish enamel | 1 | GALNS CL E G H | 2588 | 4122 | OMIM:253000 | Morquio syndrome A | . | | | 123 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | GALNT3 CL E G H | 2591 | 4125 | OMIM:211900 | Tumoral calcinosis, hyperphosphatemic, familial, 1 | . | | | 46 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | . | | | 68 | | |
HP:0000682 | HP:0000683 | Grayish enamel | 1 | GLB1 CL E G H | 2720 | 4298 | OMIM:253010 | Mucopolysaccharidosis type IVB (Morquio) | . | | | 120 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040282 - Frequent | | | 101 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | HP:0040282 - Frequent | | | 101 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040282 - Frequent | | | 101 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | GNAS CL E G H | 2778 | 4392 | OMIM:103580 | Pseudohypoparathyroidism, type IA | . | | | 101 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | GNAS CL E G H | 2778 | 4392 | OMIM:612462 | Pseudohypoparathyroidism, type IC | . | | | 101 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | GNAS CL E G H | 2778 | 4392 | OMIM:612463 | PSEUDOPSEUDOHYPOPARATHYROIDISM | . | | | 101 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | GPR68 CL E G H | 8111 | 4519 | OMIM:617217 | AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A6 | | | | 3 | | |
HP:0000682 | HP:0006285 | Enamel hypomineralization | 1 | GPR68 CL E G H | 8111 | 4519 | OMIM:617217 | AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A6 | | | | 3 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | GRHL2 CL E G H | 79977 | 2799 | OMIM:616029 | Ectodermal dysplasia/short stature syndrome | . | | | 33 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | HLA-DQA1 CL E G H | 3117 | 4942 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | . | | | 93 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | IRF6 CL E G H | 3664 | 6121 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 99 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | | | | 4 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | ITGA6 CL E G H | 3655 | 6142 | ORPHA:79403 | Junctional epidermolysis bullosa with pyloric atresia | HP:0040282 - Frequent | | | 79 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | ITGB4 CL E G H | 3691 | 6158 | OMIM:226730 | Epidermolysis bullosa, junctional, with pyloric atresia | . | | | 124 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 124 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:79403 | Junctional epidermolysis bullosa with pyloric atresia | HP:0040282 - Frequent | | | 124 | | |
HP:0000682 | HP:0009722 | Dental enamel pits | 1 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:251393 | Localized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 124 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:251393 | Localized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 124 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | ITGB6 CL E G H | 3694 | 6161 | OMIM:616221 | AMELOGENESIS IMPERFECTA, TYPE IH; AI1H | | | | 8 | | |
HP:0000682 | HP:0009722 | Dental enamel pits | 1 | ITGB6 CL E G H | 3694 | 6161 | OMIM:616221 | AMELOGENESIS IMPERFECTA, TYPE IH; AI1H | | | | 8 | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | ITGB6 CL E G H | 3694 | 6161 | OMIM:616221 | AMELOGENESIS IMPERFECTA, TYPE IH; AI1H | | | | 8 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:170390 | Andersen cardiodysrhythmic periodic paralysis | . | | | 193 | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | KLK4 CL E G H | 9622 | 6365 | OMIM:204700 | Amelogenesis imperfecta, hypomaturation type, iia1 | . | | | 6 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040282 - Frequent | | | 110 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | KRT14 CL E G H | 3861 | 6416 | ORPHA:69087 | Naegeli-Franceschetti-Jadassohn syndrome | | | | 110 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040282 - Frequent | | | 173 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | LAMA3 CL E G H | 3909 | 6483 | OMIM:226700 | Epidermolysis bullosa, junctional, Herlitz type | . | | | 116 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 116 | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | LAMA3 CL E G H | 3909 | 6483 | OMIM:245660 | Laryngoonychocutaneous syndrome | . | | | 116 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | LAMA3 CL E G H | 3909 | 6483 | OMIM:245660 | Laryngoonychocutaneous syndrome | | | | 116 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 116 | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | LAMB3 CL E G H | 3914 | 6490 | OMIM:104530 | Amelogenesis imperfecta, type IA | . | | | 167 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | LAMB3 CL E G H | 3914 | 6490 | OMIM:226700 | Epidermolysis bullosa, junctional, Herlitz type | . | | | 167 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | LAMB3 CL E G H | 3914 | 6490 | OMIM:226650 | Epidermolysis bullosa, junctional, Non-Herlitz type | | | | 167 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 167 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 167 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | LAMC2 CL E G H | 3918 | 6493 | OMIM:226700 | Epidermolysis bullosa, junctional, Herlitz type | . | | | 135 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 135 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 135 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | HP:0040283 - Occasional | | | 165 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | LONP1 CL E G H | 9361 | 9479 | OMIM:600373 | CODAS syndrome | | | | 8 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | LRP4 CL E G H | 4038 | 6696 | OMIM:212780 | Cenani-Lenz syndactyly syndrome | | | | 124 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | LRP6 CL E G H | 4040 | 6698 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 26 | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | LTBP3 CL E G H | 4054 | 6716 | OMIM:601216 | Dental anomalies and short stature | . | | | 12 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | MMP1 CL E G H | 4312 | 7155 | OMIM:226600 | Epidermolysis bullosa dystrophica, autosomal recessive | . | | | 6 | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | MMP20 CL E G H | 9313 | 7167 | OMIM:612529 | Amelogenesis imperfecta, hypomaturation type, iia2 | . | | | 37 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | MSX1 CL E G H | 4487 | 7391 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 12 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | NECTIN4 CL E G H | 81607 | 19688 | OMIM:613573 | Ectodermal dysplasia-syndactyly syndrome 1 | . | | | 7 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:139474 | 17q11.2 microduplication syndrome | HP:0040282 - Frequent | | | 1952 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | NUP133 CL E G H | 55746 | 18016 | OMIM:618349 | Galloway-Mowat syndrome 8 | . | | | 1 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | OCRL CL E G H | 4952 | 8108 | OMIM:309000 | Lowe syndrome | . | | | 88 | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | ODAPH CL E G H | 152816 | 26300 | OMIM:614832 | Amelogenesis imperfecta, hypomaturation type, iia4 | . | | | 6 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | ODAPH CL E G H | 152816 | 26300 | OMIM:614832 | Amelogenesis imperfecta, hypomaturation type, iia4 | . | | | 6 | | |
HP:0000682 | HP:0006285 | Enamel hypomineralization | 1 | ODAPH CL E G H | 152816 | 26300 | OMIM:614832 | Amelogenesis imperfecta, hypomaturation type, iia4 | . | | | 6 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | OFD1 CL E G H | 8481 | 2567 | OMIM:311200 | Orofaciodigital syndrome I | . | | | 201 | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | ORAI1 CL E G H | 84876 | 25896 | OMIM:612782 | Immunodeficiency 9 | . | | | 19 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | PAK2 CL E G H | 5062 | 8591 | OMIM:618458 | | | | | | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | PAX9 CL E G H | 5083 | 8623 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 58 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | . | | | 531 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | PEX1 CL E G H | 5189 | 8850 | OMIM:234580 | Heimler syndrome 1 | . | | | 169 | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | PEX1 CL E G H | 5189 | 8850 | OMIM:234580 | Heimler syndrome 1 | . | | | 169 | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | PEX6 CL E G H | 5190 | 8859 | OMIM:616617 | Heimler syndrome 2 | | | | 98 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | PGAP1 CL E G H | 80055 | 25712 | OMIM:615802 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42 | | | | 20 | | |
HP:0000682 | HP:0006285 | Enamel hypomineralization | 1 | PHEX CL E G H | 5251 | 8918 | OMIM:307800 | Hypophosphatemic rickets, X-linked dominant | . | | | 217 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | PIK3C2A CL E G H | 5286 | 8971 | ORPHA:557003 | Oculocerebrodental syndrome | HP:0040283 - Occasional | | | | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | PLEC CL E G H | 5339 | 9069 | OMIM:226670 | Epidermolysis bullosa simplex with muscular dystrophy | . | | | 759 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | PLEC CL E G H | 5339 | 9069 | OMIM:226730 | Epidermolysis bullosa, junctional, with pyloric atresia | . | | | 759 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0000682 | HP:0033785 | Enamel agenesis | 1 | RAD21 CL E G H | 5885 | 9811 | OMIM:614701 | Cornelia de Lange syndrome 4 | | | | 25 | | |
HP:0000682 | HP:0006285 | Enamel hypomineralization | 1 | RELT CL E G H | 84957 | 13764 | OMIM:618386 | Amelogenesis imperfecta, type IIIC | | | | | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | RELT CL E G H | 84957 | 13764 | OMIM:618386 | Amelogenesis imperfecta, type IIIC | | | | | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | RHOA CL E G H | 387 | 667 | OMIM:618727 | ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB | | | | 8 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | ROGDI CL E G H | 79641 | 29478 | ORPHA:1946 | Amelocerebrohypohidrotic syndrome | HP:0040281 - Very frequent | | | 57 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | ROGDI CL E G H | 79641 | 29478 | OMIM:226750 | Kohlschutter-Tonz syndrome | . | | | 57 | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | ROGDI CL E G H | 79641 | 29478 | OMIM:226750 | Kohlschutter-Tonz syndrome | . | | | 57 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | RUNX2 CL E G H | 860 | 10472 | OMIM:119600 | Cleidocranial dysplasia | . | | | 90 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | SATB1 CL E G H | 6304 | 10541 | OMIM:619229 | KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL | | | | | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | SATB1 CL E G H | 6304 | 10541 | OMIM:619229 | KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL | | | | | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | SCUBE3 CL E G H | 222663 | 13655 | OMIM:619184 | SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2 | | | | 1 | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | SLC10A7 CL E G H | 84068 | 23088 | OMIM:618363 | Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis | . | | | | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | SLC13A5 CL E G H | 284111 | 23089 | ORPHA:1946 | Amelocerebrohypohidrotic syndrome | HP:0040281 - Very frequent | | | 73 | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | SLC13A5 CL E G H | 284111 | 23089 | OMIM:615905 | Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta | . | | | 73 | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | SLC24A4 CL E G H | 123041 | 10978 | OMIM:615887 | Amelogenesis imperfecta, hypomaturation type, iia5 | . | | | 4 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | SLC35A2 CL E G H | 7355 | 11022 | OMIM:300896 | Congenital disorder of glycosylation, type IIm | | | | 27 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | SMARCD2 CL E G H | 6603 | 11107 | OMIM:617475 | SPECIFIC GRANULE DEFICIENCY 2; SGD2 | | | | 3 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | SMOC2 CL E G H | 64094 | 20323 | OMIM:125400 | Dentin dysplasia, type I, with microdontia and misshapen teeth | | | | 4 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | SP6 CL E G H | 80320 | 14530 | OMIM:620104 | | | | | | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | SP6 CL E G H | 80320 | 14530 | OMIM:620104 | | | | | | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | STIM1 CL E G H | 6786 | 11386 | OMIM:612783 | Immunodeficiency 10 | . | | | 31 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | STX16 CL E G H | 8675 | 11431 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | HP:0040282 - Frequent | | | 86 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | SUMO1 CL E G H | 7341 | 12502 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 8 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | TGFA CL E G H | 7039 | 11765 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | TMEM165 CL E G H | 55858 | 30760 | OMIM:614727 | Congenital disorder of glycosylation, type IIK | HP:0040283 - Occasional | | | 24 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | | | | 140 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | | | | 78 | | |
HP:0000682 | HP:0009722 | Dental enamel pits | 1 | TSC1 CL E G H | 7248 | 12362 | OMIM:191100 | Tuberous sclerosis-1 | . | | | 1090 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | HP:0040284 - Very rare | | | 26 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | VDR CL E G H | 7421 | 12679 | OMIM:277440 | Vitamin d-dependent rickets, type 2A | . | | | 104 | | |
HP:0000682 | HP:0006285 | Enamel hypomineralization | 1 | WDR72 CL E G H | 256764 | 26790 | OMIM:613211 | Amelogenesis imperfecta, hypomaturation type, iia3 | . | | | 137 | | |
HP:0000682 | HP:0000705 | Amelogenesis imperfecta | 1 | WDR72 CL E G H | 256764 | 26790 | OMIM:613211 | Amelogenesis imperfecta, hypomaturation type, iia3 | . | | | 137 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | WNT10A CL E G H | 80326 | 13829 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 71 | | |
HP:0000682 | HP:0006297 | Enamel hypoplasia | 1 | WNT10B CL E G H | 7480 | 12775 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 4 | | |
HP:0000682 | HP:0011074 | Localized hypoplasia of dental enamel | 2 | CL E G H | | | | | | | | | | |
HP:0000682 | HP:0006282 | Generalized hypoplasia of dental enamel | 2 | CL E G H | | | | | | | | | | |
HP:0000682 | HP:0011084 | Hypocalcification of dental enamel | 2 | RELT CL E G H | 84957 | 13764 | OMIM:618386 | Amelogenesis imperfecta, type IIIC | | | | | | |
HP:0000682 | HP:0011085 | Hypomature dental enamel | 2 | WDR72 CL E G H | 256764 | 26790 | OMIM:613211 | Amelogenesis imperfecta, hypomaturation type, iia3 | . | | | 137 | | |