Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | AXIN2 CL E G H | 8313 | 904 | ORPHA:99798 | Oligodontia | | | | 435 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | | | | 7 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | BRF1 CL E G H | 2972 | 11551 | OMIM:616202 | Cerebellofaciodental syndrome | | | | 7 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 373 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 660 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 325 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | | | | 160 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | | | | 33 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | | | | 65 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | DLX3 CL E G H | 1747 | 2916 | OMIM:104510 | AMELOGENESIS IMPERFECTA, TYPE IV; AI4 | | | | 48 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | DLX3 CL E G H | 1747 | 2916 | ORPHA:3352 | Tricho-dento-osseous syndrome | | | | 48 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | DLX3 CL E G H | 1747 | 2916 | OMIM:190320 | Trichodentoosseous syndrome | | | | 48 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | DSPP CL E G H | 1834 | 3054 | OMIM:125420 | Dentin dysplasia, type II | | | | 38 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | | | | 115 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | EDA CL E G H | 1896 | 3157 | ORPHA:99798 | Oligodontia | | | | 115 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | EDARADD CL E G H | 128178 | 14341 | ORPHA:99798 | Oligodontia | | | | 56 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | FAM20A CL E G H | 54757 | 23015 | OMIM:204690 | Enamel-Renal syndrome | | | | 16 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | FGF3 CL E G H | 2248 | 3681 | ORPHA:2791 | Otodental syndrome | HP:0040281 - Very frequent | | | 18 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:99798 | Oligodontia | | | | 172 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | | | | | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | GALNT3 CL E G H | 2591 | 4125 | OMIM:211900 | Tumoral calcinosis, hyperphosphatemic, familial, 1 | | | | 46 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | | | | 68 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | | | | 68 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | IFT122 CL E G H | 55764 | 13556 | ORPHA:1515 | Cranioectodermal dysplasia | | | | 93 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | IFT43 CL E G H | 112752 | 29669 | ORPHA:1515 | Cranioectodermal dysplasia | | | | 11 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | IFT52 CL E G H | 51098 | 15901 | ORPHA:1515 | Cranioectodermal dysplasia | | | | 4 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | | | | 119 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:99798 | Oligodontia | | | | 99 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | LAMB3 CL E G H | 3914 | 6490 | OMIM:104530 | Amelogenesis imperfecta, type IA | | | | 167 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | LRP6 CL E G H | 4040 | 6698 | ORPHA:99798 | Oligodontia | | | | 26 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | LRP6 CL E G H | 4040 | 6698 | OMIM:616724 | Tooth agenesis, selective, 7 | | | | 26 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:99798 | Oligodontia | | | | 12 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | | | | 101 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | HP:0040283 - Occasional | | | 1952 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | | | | 27 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | | | | 17 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | | | | 12 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | | | | 88 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | | | | 26 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | PAX9 CL E G H | 5083 | 8623 | ORPHA:99798 | Oligodontia | | | | 58 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:3220 | Deafness-enamel hypoplasia-nail defects syndrome | | | | 169 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:3220 | Deafness-enamel hypoplasia-nail defects syndrome | | | | 98 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | | | | 150 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | | | | 77 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | SMOC2 CL E G H | 64094 | 20323 | OMIM:125400 | Dentin dysplasia, type I, with microdontia and misshapen teeth | | | | 4 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | SUMO1 CL E G H | 7341 | 12502 | ORPHA:99798 | Oligodontia | | | | 8 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | | | | 48 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | | | | 238 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | TGFA CL E G H | 7039 | 11765 | ORPHA:99798 | Oligodontia | | | | | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | | | | 60 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | | | | 140 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | | | | 140 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | | | | 1 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | | | | 8 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:1515 | Cranioectodermal dysplasia | | | | 95 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614378 | Cranioectodermal dysplasia 4 | | | | 95 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:1515 | Cranioectodermal dysplasia | | | | 136 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | WNT10A CL E G H | 80326 | 13829 | ORPHA:99798 | Oligodontia | | | | 71 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | WNT10B CL E G H | 7480 | 12775 | ORPHA:99798 | Oligodontia | | | | 4 | | |
HP:0006479 | HP:0006479 | Abnormal dental pulp morphology | 0 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | | | | 40 | | |
HP:0006479 | HP:0033790 | Thistle tube shaped pulp | 1 | CL E G H | | | | | | | | | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | AXIN2 CL E G H | 8313 | 904 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 435 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | BRF1 CL E G H | 2972 | 11551 | OMIM:616202 | Cerebellofaciodental syndrome | . | | | 7 | | |
HP:0006479 | HP:0003771 | Pulp calcification | 1 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 373 | | |
HP:0006479 | HP:0003771 | Pulp calcification | 1 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 660 | | |
HP:0006479 | HP:0003771 | Pulp calcification | 1 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 325 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 160 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 65 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | DLX3 CL E G H | 1747 | 2916 | OMIM:104510 | AMELOGENESIS IMPERFECTA, TYPE IV; AI4 | | | | 48 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | DLX3 CL E G H | 1747 | 2916 | ORPHA:3352 | Tricho-dento-osseous syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | DLX3 CL E G H | 1747 | 2916 | OMIM:190320 | Trichodentoosseous syndrome | . | | | 48 | | |
HP:0006479 | HP:0003771 | Pulp calcification | 1 | DSPP CL E G H | 1834 | 3054 | OMIM:125420 | Dentin dysplasia, type II | . | | | 38 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | . | | | 115 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | EDA CL E G H | 1896 | 3157 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 115 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | EDARADD CL E G H | 128178 | 14341 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 56 | | |
HP:0006479 | HP:0003771 | Pulp calcification | 1 | FAM20A CL E G H | 54757 | 23015 | OMIM:204690 | Enamel-Renal syndrome | | | | 16 | | |
HP:0006479 | HP:0003771 | Pulp calcification | 1 | FGF3 CL E G H | 2248 | 3681 | ORPHA:2791 | Otodental syndrome | HP:0040282 - Frequent | | | 18 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | FGF3 CL E G H | 2248 | 3681 | ORPHA:2791 | Otodental syndrome | HP:0040282 - Frequent | | | 18 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 172 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | GALNT3 CL E G H | 2591 | 4125 | OMIM:211900 | Tumoral calcinosis, hyperphosphatemic, familial, 1 | . | | | 46 | | |
HP:0006479 | HP:0003771 | Pulp calcification | 1 | GALNT3 CL E G H | 2591 | 4125 | OMIM:211900 | Tumoral calcinosis, hyperphosphatemic, familial, 1 | . | | | 46 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040283 - Occasional | | | 68 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | HP:0040283 - Occasional | | | 68 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | IFT122 CL E G H | 55764 | 13556 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040283 - Occasional | | | 93 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | IFT43 CL E G H | 112752 | 29669 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040283 - Occasional | | | 11 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | IFT52 CL E G H | 51098 | 15901 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040283 - Occasional | | | 4 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 119 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | IRF6 CL E G H | 3664 | 6121 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 99 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | LAMB3 CL E G H | 3914 | 6490 | OMIM:104530 | Amelogenesis imperfecta, type IA | HP:0040283 - Occasional | | | 167 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | LRP6 CL E G H | 4040 | 6698 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 26 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | LRP6 CL E G H | 4040 | 6698 | OMIM:616724 | Tooth agenesis, selective, 7 | HP:0040283 - Occasional | | | 26 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | MSX1 CL E G H | 4487 | 7391 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 12 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | HP:0040283 - Occasional | | | 101 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 27 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 17 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 12 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040283 - Occasional | | | 88 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 26 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | PAX9 CL E G H | 5083 | 8623 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 58 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | PEX1 CL E G H | 5189 | 8850 | ORPHA:3220 | Deafness-enamel hypoplasia-nail defects syndrome | HP:0040281 - Very frequent | | | 169 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | PEX6 CL E G H | 5190 | 8859 | ORPHA:3220 | Deafness-enamel hypoplasia-nail defects syndrome | HP:0040281 - Very frequent | | | 98 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 77 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | SMOC2 CL E G H | 64094 | 20323 | OMIM:125400 | Dentin dysplasia, type I, with microdontia and misshapen teeth | HP:0040283 - Occasional | | | 4 | | |
HP:0006479 | HP:0006350 | Pulp obliteration | 1 | SMOC2 CL E G H | 64094 | 20323 | OMIM:125400 | Dentin dysplasia, type I, with microdontia and misshapen teeth | . | | | 4 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | SUMO1 CL E G H | 7341 | 12502 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 8 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 48 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 238 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | TGFA CL E G H | 7039 | 11765 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 60 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | | | | 140 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 1 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 8 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | WDR19 CL E G H | 57728 | 18340 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040283 - Occasional | | | 95 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | WDR19 CL E G H | 57728 | 18340 | OMIM:614378 | Cranioectodermal dysplasia 4 | | | | 95 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | WDR35 CL E G H | 57539 | 29250 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040283 - Occasional | | | 136 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | WNT10A CL E G H | 80326 | 13829 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 71 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | WNT10B CL E G H | 7480 | 12775 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 4 | | |
HP:0006479 | HP:0000679 | Taurodontia | 1 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 40 | | |
HP:0006479 | HP:0006302 | Dagger-shaped pulp calcifications | 2 | FAM20A CL E G H | 54757 | 23015 | OMIM:204690 | Enamel-Renal syndrome | . | | | 16 | | |