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:0000668 | HP:0000668 | Hypodontia | 0 | AARS1 CL E G H | 16 | 20 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | ACOX1 CL E G H | 51 | 119 | ORPHA:2971 | Peroxisomal acyl-CoA oxidase deficiency | HP:0040281 - Very frequent | | | 120 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | ACTL6B CL E G H | 51412 | 160 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | ADAMTS2 CL E G H | 9509 | 218 | OMIM:225410 | Ehlers-Danlos syndrome, type VII, autosomal recessive | . | | | 165 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | AP3B2 CL E G H | 8120 | 567 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 7 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | APC CL E G H | 324 | 583 | ORPHA:3258 | Cenani-Lenz syndrome | HP:0040283 - Occasional | | | 3179 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 29 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | ARV1 CL E G H | 64801 | 29561 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 239 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 150 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | ATP6V1A CL E G H | 523 | 851 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 114 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | BCL11B CL E G H | 64919 | 13222 | OMIM:618092 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES | . | | | 3 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 449 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | CACNA1B CL E G H | 774 | 1389 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 5 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | CACNA2D1 CL E G H | 781 | 1399 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 59 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 4 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | CDH1 CL E G H | 999 | 1748 | OMIM:119580 | Blepharocheilodontic syndrome 1 | . | | | 1003 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | CDK19 CL E G H | 23097 | 19338 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | CELF2 CL E G H | 10659 | 2550 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | CEP152 CL E G H | 22995 | 29298 | OMIM:613823 | Seckel syndrome 5 | . | | | 146 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | CEP85L CL E G H | 387119 | 21638 | OMIM:618873 | LISSENCEPHALY 10; LIS10 | | | | 1 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | CFAP418 CL E G H | 157657 | 27232 | OMIM:617406 | Bardet-Biedl syndrome 21 | . | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | CKAP2L CL E G H | 150468 | 26877 | OMIM:272440 | Filippi syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | CLDN1 CL E G H | 9076 | 2032 | OMIM:607626 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis | . | | | 11 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | CLDN1 CL E G H | 9076 | 2032 | ORPHA:59303 | Neonatal ichthyosis-sclerosing cholangitis syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | CLTC CL E G H | 1213 | 2092 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | CNKSR2 CL E G H | 22866 | 19701 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 18 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | HP:0040283 - Occasional | | | 291 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | HP:0040283 - Occasional | | | 291 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 160 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | | | | 39 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | CTSK CL E G H | 1513 | 2536 | OMIM:265800 | PYCNODYSOSTOSIS | . | | | 39 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | CYFIP2 CL E G H | 26999 | 13760 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | DALRD3 CL E G H | 55152 | 25536 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | DDX59 CL E G H | 83479 | 25360 | ORPHA:2919 | Orofaciodigital syndrome type 5 | HP:0040283 - Occasional | | | 2 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | DDX59 CL E G H | 83479 | 25360 | OMIM:174300 | Orofaciodigital syndrome V | | | | 2 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | DHDDS CL E G H | 79947 | 20603 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 47 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 65 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:617052 | Bone marrow failure syndrome 3 | HP:0040283 - Occasional | | | 5 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | DNM1 CL E G H | 1759 | 2972 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 72 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | OMIM:617088 | Short-rib thoracic dysplasia 15 with polydactyly | . | | | 7 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | . | | | 115 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | EDA CL E G H | 1896 | 3157 | OMIM:313500 | TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1 | | | | 115 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | EDAR CL E G H | 10913 | 2895 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 86 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | EDAR CL E G H | 10913 | 2895 | OMIM:129490 | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | . | | | 86 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | EDAR CL E G H | 10913 | 2895 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 86 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | EDARADD CL E G H | 128178 | 14341 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 56 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:129490 | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | . | | | 56 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 56 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:614940 | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant | . | | | 56 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:614941 | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 56 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | EEF1A2 CL E G H | 1917 | 3192 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 60 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 172 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | HP:0040283 - Occasional | | | 250 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | EVC CL E G H | 2121 | 3497 | ORPHA:952 | Acrofacial dysostosis, Weyers type | HP:0040281 - Very frequent | | | 209 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | EVC CL E G H | 2121 | 3497 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040282 - Frequent | | | 209 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | EVC CL E G H | 2121 | 3497 | OMIM:225500 | Ellis-Van creveld syndrome | . | | | 209 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | EVC2 CL E G H | 132884 | 19747 | ORPHA:952 | Acrofacial dysostosis, Weyers type | HP:0040281 - Very frequent | | | 137 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | EVC2 CL E G H | 132884 | 19747 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040282 - Frequent | | | 137 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | EVC2 CL E G H | 132884 | 19747 | OMIM:225500 | Ellis-Van creveld syndrome | . | | | 137 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | FGD1 CL E G H | 2245 | 3663 | OMIM:305400 | Aarskog-Scott syndrome | . | | | 62 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 17 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | FGF12 CL E G H | 2257 | 3668 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | FGF13 CL E G H | 2258 | 3670 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | FGF3 CL E G H | 2248 | 3681 | ORPHA:90024 | Deafness with labyrinthine aplasia, microtia, and microdontia | HP:0040283 - Occasional | | | 18 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 175 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 145 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | . | | | 233 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | FOXC1 CL E G H | 2296 | 3800 | ORPHA:782 | Axenfeld-Rieger syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | FOXC1 CL E G H | 2296 | 3800 | OMIM:602482 | Axenfeld-rieger syndrome, type 3 | . | | | 63 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | FZR1 CL E G H | 51343 | 24824 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 5 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | GABRA2 CL E G H | 2555 | 4076 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 4 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | GABRA5 CL E G H | 2558 | 4079 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | GABRB2 CL E G H | 2561 | 4082 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 44 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 139 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:63442 | Angel-shaped phalango-epiphyseal dysplasia | HP:0040282 - Frequent | | | 52 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | GLI1 CL E G H | 2735 | 4317 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | GRHL2 CL E G H | 79977 | 2799 | OMIM:616029 | Ectodermal dysplasia/short stature syndrome | . | | | 33 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | GRHL3 CL E G H | 57822 | 25839 | ORPHA:888 | Van der Woude syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | GRHL3 CL E G H | 57822 | 25839 | OMIM:606713 | Van der woude syndrome 2 | | | | 12 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | GRIN2D CL E G H | 2906 | 4588 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | HCN1 CL E G H | 348980 | 4845 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:94063 | 12q14 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | HSPA9 CL E G H | 3313 | 5244 | OMIM:616854 | Even-Plus syndrome | | | | 6 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | IFT122 CL E G H | 55764 | 13556 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040282 - Frequent | | | 93 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | . | | | 93 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | IFT43 CL E G H | 112752 | 29669 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040282 - Frequent | | | 11 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | IFT52 CL E G H | 51098 | 15901 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040282 - Frequent | | | 4 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:300636 | Immunodeficiency 33 | | | | 52 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | . | | | 52 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | HP:0040281 - Very frequent | | | 52 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:141291 | Cleft lip and alveolus | HP:0040283 - Occasional | | | 99 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:199302 | Isolated cleft lip | HP:0040284 - Very rare | | | 99 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:888 | Van der Woude syndrome | HP:0040283 - Occasional | | | 99 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | IRF6 CL E G H | 3664 | 6121 | OMIM:119300 | van der Woude syndrome 1 | . | | | 99 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | KCNA2 CL E G H | 3737 | 6220 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | KCNB1 CL E G H | 3745 | 6231 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 65 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | KCNN3 CL E G H | 3782 | 6292 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | KDF1 CL E G H | 126695 | 26624 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 1 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | KDM6A CL E G H | 7403 | 12637 | ORPHA:2322 | Kabuki syndrome | HP:0040282 - Frequent | | | 53 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | KDM6A CL E G H | 7403 | 12637 | OMIM:300867 | Kabuki syndrome 2 | | | | 53 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | KIF1C CL E G H | 10749 | 6317 | ORPHA:397946 | Autosomal spastic paraplegia type 58 | HP:0040281 - Very frequent | | | 38 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | KMT2D CL E G H | 8085 | 7133 | ORPHA:2322 | Kabuki syndrome | HP:0040282 - Frequent | | | 660 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | LAMB3 CL E G H | 3914 | 6490 | OMIM:226650 | Epidermolysis bullosa, junctional, Non-Herlitz type | . | | | 167 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | LEMD2 CL E G H | 221496 | 21244 | OMIM:619322 | MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS | | | | 1 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:94063 | 12q14 microdeletion syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040283 - Occasional | | | 645 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | LRP4 CL E G H | 4038 | 6696 | OMIM:212780 | Cenani-Lenz syndactyly syndrome | | | | 124 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | LRP4 CL E G H | 4038 | 6696 | ORPHA:3258 | Cenani-Lenz syndrome | HP:0040283 - Occasional | | | 124 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | MAPK8IP3 CL E G H | 23162 | 6884 | OMIM:618443 | Neurodevelopmental disorder with or without variable brain abnormalities | | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | HP:0040282 - Frequent | | | 22 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | MID1 CL E G H | 4281 | 7095 | ORPHA:2745 | Opitz GBBB syndrome | HP:0040284 - Very rare | | | 57 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:141291 | Cleft lip and alveolus | HP:0040283 - Occasional | | | 12 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:2228 | Hypodontia-dysplasia of nails syndrome | HP:0040281 - Very frequent | | | 12 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:199302 | Isolated cleft lip | HP:0040284 - Very rare | | | 12 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | MSX1 CL E G H | 4487 | 7391 | OMIM:106600 | Tooth agenesis, selective, 1 | . | | | 12 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | MTX2 CL E G H | 10651 | 7506 | OMIM:619127 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS | | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | NECAP1 CL E G H | 25977 | 24539 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:141291 | Cleft lip and alveolus | HP:0040283 - Occasional | | | 4 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | NECTIN1 CL E G H | 5818 | 9706 | OMIM:225060 | Cleft lip/palate-ectodermal dysplasia syndrome | . | | | 4 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:199302 | Isolated cleft lip | HP:0040284 - Very rare | | | 4 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | NFKBIA CL E G H | 4792 | 7797 | OMIM:612132 | ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT | . | | | 27 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 27 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:209905 | Brain-lung-thyroid syndrome | HP:0040284 - Very rare | | | 51 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 17 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 12 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 544 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 118 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | NTRK2 CL E G H | 4915 | 8032 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 8 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | NUS1 CL E G H | 116150 | 21042 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | HP:0040282 - Frequent | | | 201 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 26 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | PARS2 CL E G H | 25973 | 30563 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 14 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | PERP CL E G H | 64065 | 17637 | ORPHA:659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | HP:0040282 - Frequent | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:3474 | CHIME syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:269880 | Short syndrome | . | | | 43 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | PITX2 CL E G H | 5308 | 9005 | ORPHA:782 | Axenfeld-Rieger syndrome | HP:0040283 - Occasional | | | 51 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | PITX2 CL E G H | 5308 | 9005 | OMIM:180500 | Axenfeld-rieger syndrome, type 1 | . | | | 51 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | POLR1C CL E G H | 9533 | 20194 | ORPHA:88637 | Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | HP:0040281 - Very frequent | | | 38 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:88637 | Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | HP:0040281 - Very frequent | | | 138 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | . | | | 138 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | . | | | 138 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | POLR3B CL E G H | 55703 | 30348 | ORPHA:88637 | Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | HP:0040281 - Very frequent | | | 67 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | . | | | 67 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | POLR3K CL E G H | 51728 | 14121 | OMIM:619310 | LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21 | | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | POP1 CL E G H | 10940 | 30129 | OMIM:617396 | Anauxetic dysplasia 2 | HP:0040283 - Occasional | | | 6 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | . | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | PPP3CA CL E G H | 5530 | 9314 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | PRKACA CL E G H | 5566 | 9380 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | PRKACB CL E G H | 5567 | 9381 | OMIM:619143 | CARDIOACROFACIAL DYSPLASIA 2; CAFD2 | | | | 2 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | PRKACB CL E G H | 5567 | 9381 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | . | | | 134 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:125350 | Dental noneruption | . | | | 58 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | PUS7 CL E G H | 54517 | 26033 | OMIM:618342 | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | . | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | RBM28 CL E G H | 55131 | 21863 | OMIM:612079 | Alopecia, neurologic defects, and endocrinopathy syndrome | . | | | 1 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | RBM28 CL E G H | 55131 | 21863 | ORPHA:157954 | ANE syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:607095 | Anauxetic dysplasia | . | | | 37 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | RNF13 CL E G H | 11342 | 10057 | ORPHA:544503 | RNF13-related severe early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040283 - Occasional | | | 120 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:303600 | Coffin-Lowry syndrome | . | | | 65 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 77 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | SCN3A CL E G H | 6328 | 10590 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 70 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | SCN8A CL E G H | 6334 | 10596 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 357 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | SCNM1 CL E G H | 79005 | 23136 | OMIM:620107 | | | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 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:0000668 | HP:0000668 | Hypodontia | 0 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 60 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | SLC13A5 CL E G H | 284111 | 23089 | OMIM:615905 | Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta | . | | | 73 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | SLC13A5 CL E G H | 284111 | 23089 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 73 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | SLC1A2 CL E G H | 6506 | 10940 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | SLC38A3 CL E G H | 10991 | 18044 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | SLC39A13 CL E G H | 91252 | 20859 | OMIM:612350 | Ehlers-Danlos syndrome, spondylodysplastic type, 3 | . | | | 24 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040283 - Occasional | | | 74 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | SMG8 CL E G H | 55181 | 25551 | OMIM:619268 | ALZAHRANI-KUWAHARA SYNDROME; ALKUS | | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 9 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | SZT2 CL E G H | 23334 | 29040 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 123 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | . | | | 100 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | TBX3 CL E G H | 6926 | 11602 | ORPHA:3138 | Ulnar-mammary syndrome | HP:0040283 - Occasional | | | 100 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 48 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 238 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 60 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:103285 | Adult syndrome | . | | | 140 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | . | | | 140 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:141291 | Cleft lip and alveolus | HP:0040283 - Occasional | | | 140 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:199302 | Isolated cleft lip | HP:0040284 - Very rare | | | 140 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:69085 | Limb-mammary syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:603543 | Limb-Mammary syndrome | . | | | 140 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | . | | | 140 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | TRAF6 CL E G H | 7189 | 12036 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | TRAK1 CL E G H | 22906 | 29947 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | . | | | 78 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | TRPV3 CL E G H | 162514 | 18084 | ORPHA:659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | HP:0040282 - Frequent | | | 151 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | TSPEAR CL E G H | 54084 | 1268 | OMIM:618180 | Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | . | | | 39 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:209885 | Barber-Say syndrome | | | | 7 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 1 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | UBA5 CL E G H | 79876 | 23230 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 8 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040282 - Frequent | | | 95 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040282 - Frequent | | | 136 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | WNT10A CL E G H | 80326 | 13829 | OMIM:257980 | Odontoonychodermal dysplasia | . | | | 71 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | WNT10A CL E G H | 80326 | 13829 | ORPHA:50944 | Schöpf-Schulz-Passarge syndrome | HP:0040282 - Frequent | | | 71 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | WNT10A CL E G H | 80326 | 13829 | OMIM:224750 | Schopf-Schulz-Passarge syndrome | . | | | 71 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 98 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 40 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | WWOX CL E G H | 51741 | 12799 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 149 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | XYLT1 CL E G H | 64131 | 15516 | OMIM:615777 | Desbuquois dysplasia 2 | . | | | 14 | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | YWHAG CL E G H | 7532 | 12852 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0000668 | HP:0000668 | Hypodontia | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040283 - Occasional | | | 83 | | |