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:0000689 | HP:0000689 | Dental malocclusion | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:619719 | INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS | | | | 254 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | ACP5 CL E G H | 54 | 124 | ORPHA:1855 | Spondyloenchondrodysplasia | HP:0040283 - Occasional | | | 16 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | AGO2 CL E G H | 27161 | 3263 | OMIM:619149 | LESSEL-KREIENKAMP SYNDROME; LESKRES | | | | | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | AMELX CL E G H | 265 | 461 | OMIM:301200 | Amelogenesis imperfecta, type IE | | | | 17 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | . | | | 34 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | ARHGAP29 CL E G H | 9411 | 30207 | ORPHA:199306 | Cleft lip/palate | HP:0040283 - Occasional | | | 6 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | ASPH CL E G H | 444 | 757 | OMIM:601552 | Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs | . | | | 4 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 5 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | ATR CL E G H | 545 | 882 | OMIM:210600 | Seckel syndrome 1 | . | | | 168 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | AXIN2 CL E G H | 8313 | 904 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 435 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | BANF1 CL E G H | 8815 | 17397 | OMIM:614008 | Nestor-Guillermo progeria syndrome | | | | 22 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | . | | | 101 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | | | | 13 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | BMP4 CL E G H | 652 | 1071 | ORPHA:199306 | Cleft lip/palate | HP:0040283 - Occasional | | | 38 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | . | | | 276 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | . | | | 276 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | BRCA1 CL E G H | 672 | 1100 | OMIM:617883 | Fanconi anemia, complementation group S | . | | | 5769 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | BRF1 CL E G H | 2972 | 11551 | OMIM:616202 | Cerebellofaciodental syndrome | . | | | 7 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | CA2 CL E G H | 760 | 1373 | OMIM:259730 | Osteopetrosis, autosomal recessive 3 | . | | | 29 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | CDC42 CL E G H | 998 | 1736 | ORPHA:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | CDC42 CL E G H | 998 | 1736 | OMIM:616737 | Takenouchi-Kosaki syndrome | | | | 6 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | CDH1 CL E G H | 999 | 1748 | ORPHA:199306 | Cleft lip/palate | HP:0040283 - Occasional | | | 1003 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | CDH11 CL E G H | 1009 | 1750 | OMIM:211380 | Elsahy-Waters syndrome | . | | | 2 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 139 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | | | | 68 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:210110 | Intermediate osteopetrosis | HP:0040284 - Very rare | | | 102 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | HP:0040283 - Occasional | | | 291 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | HP:0040283 - Occasional | | | 291 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | | | | 39 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | DCHS1 CL E G H | 8642 | 13681 | OMIM:601390 | Van maldergem syndrome 1 | . | | | 27 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | DLG1 CL E G H | 1739 | 2900 | ORPHA:199306 | Cleft lip/palate | HP:0040283 - Occasional | | | | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | DLX4 CL E G H | 1748 | 2917 | ORPHA:199306 | Cleft lip/palate | HP:0040283 - Occasional | | | 1 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | DOCK3 CL E G H | 1795 | 2989 | OMIM:618292 | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | | | | 3 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | DPM2 CL E G H | 8818 | 3006 | ORPHA:329178 | Congenital muscular dystrophy with intellectual disability and severe epilepsy | HP:0040283 - Occasional | | | 26 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | DSPP CL E G H | 1834 | 3054 | OMIM:125500 | Dentinogenesis imperfecta, shields type III | | | | 38 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:616331 | Robinow syndrome, autosomal dominant 2 | . | | | 14 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | DVL3 CL E G H | 1857 | 3087 | OMIM:616894 | ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3 | | | | 5 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | EDA CL E G H | 1896 | 3157 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 115 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | EDARADD CL E G H | 128178 | 14341 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 56 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | EDN1 CL E G H | 1906 | 3176 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 172 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | ENAM CL E G H | 10117 | 3344 | OMIM:204650 | Amelogenesis imperfecta, type IC | | | | 50 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:613684 | Rubinstein-Taybi syndrome 2 | . | | | 250 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | HP:0040283 - Occasional | | | 250 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | . | | | 199 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | . | | | 55 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | FAM83H CL E G H | 286077 | 24797 | OMIM:130900 | Amelogenesis imperfecta, type III | . | | | 22 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | FAT4 CL E G H | 79633 | 23109 | OMIM:615546 | Van maldergem syndrome 2 | . | | | 114 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 172 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | . | | | 175 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:602849 | Muenke syndrome | . | | | 145 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | FLCN CL E G H | 201163 | 27310 | OMIM:610883 | Potocki-Lupski syndrome | . | | | 332 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:305620 | Frontometaphyseal dysplasia | . | | | 493 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | FRAS1 CL E G H | 80144 | 19185 | OMIM:219000 | Fraser syndrome | . | | | 353 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | FRAS1 CL E G H | 80144 | 19185 | ORPHA:2052 | Fraser syndrome | HP:0040282 - Frequent | | | 353 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | FREM2 CL E G H | 341640 | 25396 | ORPHA:2052 | Fraser syndrome | HP:0040282 - Frequent | | | 263 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | GFPT1 CL E G H | 2673 | 4241 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 128 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:257850 | Oculodentodigital dysplasia, autosomal recessive | . | | | 68 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | | | | 173 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | GNAI3 CL E G H | 2773 | 4387 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | GNAI3 CL E G H | 2773 | 4387 | OMIM:602483 | Auriculocondylar syndrome 1 | . | | | 2 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:562 | McCune-Albright syndrome | HP:0040283 - Occasional | | | 101 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | GPR68 CL E G H | 8111 | 4519 | OMIM:617217 | AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A6 | | | | 3 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | GRHL3 CL E G H | 57822 | 25839 | OMIM:606713 | Van der woude syndrome 2 | | | | 12 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | GRIP1 CL E G H | 23426 | 18708 | ORPHA:2052 | Fraser syndrome | HP:0040282 - Frequent | | | 80 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | HP:0040282 - Frequent | | | 8 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | HP:0040282 - Frequent | | | 8 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | IL11RA CL E G H | 3590 | 5967 | OMIM:614188 | Craniosynostosis and dental anomalies | | | | 8 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:199306 | Cleft lip/palate | HP:0040283 - Occasional | | | 99 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 99 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | ITGB6 CL E G H | 3694 | 6161 | OMIM:616221 | AMELOGENESIS IMPERFECTA, TYPE IH; AI1H | | | | 8 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 13 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | KCNN3 CL E G H | 3782 | 6292 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 7 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | KDM6A CL E G H | 7403 | 12637 | OMIM:300867 | Kabuki syndrome 2 | | | | 53 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | KLK4 CL E G H | 9622 | 6365 | OMIM:204700 | Amelogenesis imperfecta, hypomaturation type, iia1 | | | | 6 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:144750 | Hyperostosis, endosteal | . | | | 125 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | LRP6 CL E G H | 4040 | 6698 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 26 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | . | | | 134 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | MARS1 CL E G H | 4141 | 6898 | OMIM:619692 | TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9 | | | | | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | MMP20 CL E G H | 9313 | 7167 | OMIM:612529 | Amelogenesis imperfecta, hypomaturation type, iia2 | | | | 37 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:199306 | Cleft lip/palate | HP:0040283 - Occasional | | | 12 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 12 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | MTM1 CL E G H | 4534 | 7448 | OMIM:310400 | Myopathy, centronuclear, X-linked | | | | 185 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | MYOD1 CL E G H | 4654 | 7611 | OMIM:618975 | MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF | | | | | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:199306 | Cleft lip/palate | HP:0040283 - Occasional | | | 4 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:102500 | Hajdu-Cheney syndrome | . | | | 138 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | OBSL1 CL E G H | 23363 | 29092 | OMIM:612921 | 3-M syndrome 2 | . | | | 143 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | PAX1 CL E G H | 5075 | 8615 | OMIM:615560 | Otofaciocervical syndrome 2 | HP:0040283 - Occasional | | | 3 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | PAX9 CL E G H | 5083 | 8623 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 58 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | . | | | | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | PCYT1A CL E G H | 5130 | 8754 | OMIM:608940 | Spondylometaphyseal dysplasia with cone-rod dystrophy | . | | | 11 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | PDGFRA CL E G H | 5156 | 8803 | ORPHA:199306 | Cleft lip/palate | HP:0040283 - Occasional | | | 337 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:269880 | Short syndrome | . | | | 43 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | PLCB4 CL E G H | 5332 | 9059 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040282 - Frequent | | | 82 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | PLCB4 CL E G H | 5332 | 9059 | OMIM:614669 | Auriculocondylar syndrome 2 | . | | | 82 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | PLEKHM1 CL E G H | 9842 | 29017 | ORPHA:210110 | Intermediate osteopetrosis | HP:0040284 - Very rare | | | 2 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | . | | | 134 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | . | | | 291 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | PYROXD1 CL E G H | 79912 | 26162 | OMIM:617258 | MYOPATHY, MYOFIBRILLAR, 8; MFM8 | | | | 5 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | RDH11 CL E G H | 51109 | 17964 | OMIM:616108 | Retinal dystrophy, juvenile cataracts, and short stature syndrome | . | | | 2 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | RDH11 CL E G H | 51109 | 17964 | ORPHA:436245 | Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | RELT CL E G H | 84957 | 13764 | OMIM:618386 | Amelogenesis imperfecta, type IIIC | | | | | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | RHOA CL E G H | 387 | 667 | OMIM:618727 | ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB | | | | 8 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:303600 | Coffin-Lowry syndrome | . | | | 65 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | HP:0040283 - Occasional | | | 34 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | SH3BP2 CL E G H | 6452 | 10825 | OMIM:118400 | Cherubism | | | | 177 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | . | | | 134 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | SHANK3 CL E G H | 85358 | 14294 | ORPHA:48652 | Monosomy 22q13.3 | HP:0040283 - Occasional | | | 53 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | SHANK3 CL E G H | 85358 | 14294 | OMIM:606232 | Phelan-Mcdermid syndrome | | | | 53 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | SKI CL E G H | 6497 | 10896 | OMIM:182212 | Shprintzen-Goldberg craniosynostosis syndrome | . | | | 150 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | SLC39A13 CL E G H | 91252 | 20859 | OMIM:612350 | Ehlers-Danlos syndrome, spondylodysplastic type, 3 | . | | | 24 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:284984 | Aneurysm-osteoarthritis syndrome | HP:0040282 - Frequent | | | 260 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | SMCHD1 CL E G H | 23347 | 29090 | OMIM:603457 | Bosma arhinia microphthalmia syndrome | | | | 174 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | SOS1 CL E G H | 6654 | 11187 | OMIM:610733 | Noonan syndrome 4 | . | | | 315 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | SOST CL E G H | 50964 | 13771 | OMIM:269500 | Sclerosteosis 1 | . | | | 26 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | SUMO1 CL E G H | 7341 | 12502 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 8 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | TCF12 CL E G H | 6938 | 11623 | OMIM:615314 | Craniosynostosis 3 | | | | 28 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:210110 | Intermediate osteopetrosis | HP:0040284 - Very rare | | | 82 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | TGFA CL E G H | 7039 | 11765 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | THOC6 CL E G H | 79228 | 28369 | OMIM:613680 | Beaulieu-Boycott-Innes syndrome | . | | | 1 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | THOC6 CL E G H | 79228 | 28369 | ORPHA:363444 | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:199306 | Cleft lip/palate | HP:0040283 - Occasional | | | 140 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | | | | 78 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190350 | Trichorhinophalangeal syndrome, type I | . | | | 171 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | TSPAN7 CL E G H | 7102 | 11854 | OMIM:300210 | MENTAL RETARDATION, X-LINKED 58; MRX58 | | | | 26 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | TTI2 CL E G H | 80185 | 26262 | OMIM:615541 | Mental retardation, autosomal recessive 39 | | | | 11 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:209885 | Barber-Say syndrome | | | | 7 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | WNT10A CL E G H | 80326 | 13829 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 71 | | |
HP:0000689 | HP:0000689 | Dental malocclusion | 0 | WNT10B CL E G H | 7480 | 12775 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 4 | | |
HP:0000689 | HP:0009102 | Anterior open-bite malocclusion | 1 | AMELX CL E G H | 265 | 461 | OMIM:301200 | Amelogenesis imperfecta, type IE | . | | | 17 | | |
HP:0000689 | HP:0009102 | Anterior open-bite malocclusion | 1 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000689 | HP:0009102 | Anterior open-bite malocclusion | 1 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | . | | | 13 | | |
HP:0000689 | HP:0009102 | Anterior open-bite malocclusion | 1 | DSPP CL E G H | 1834 | 3054 | OMIM:125500 | Dentinogenesis imperfecta, shields type III | | | | 38 | | |
HP:0000689 | HP:0009102 | Anterior open-bite malocclusion | 1 | ENAM CL E G H | 10117 | 3344 | OMIM:204650 | Amelogenesis imperfecta, type IC | . | | | 50 | | |
HP:0000689 | HP:0009102 | Anterior open-bite malocclusion | 1 | FAM83H CL E G H | 286077 | 24797 | OMIM:130900 | Amelogenesis imperfecta, type III | . | | | 22 | | |
HP:0000689 | HP:0009102 | Anterior open-bite malocclusion | 1 | GNAI3 CL E G H | 2773 | 4387 | OMIM:602483 | Auriculocondylar syndrome 1 | . | | | 2 | | |
HP:0000689 | HP:0009102 | Anterior open-bite malocclusion | 1 | GPR68 CL E G H | 8111 | 4519 | OMIM:617217 | AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A6 | | | | 3 | | |
HP:0000689 | HP:0009102 | Anterior open-bite malocclusion | 1 | ITGB6 CL E G H | 3694 | 6161 | OMIM:616221 | AMELOGENESIS IMPERFECTA, TYPE IH; AI1H | | | | 8 | | |
HP:0000689 | HP:0009102 | Anterior open-bite malocclusion | 1 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0000689 | HP:0009102 | Anterior open-bite malocclusion | 1 | KCNN3 CL E G H | 3782 | 6292 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0000689 | HP:0009102 | Anterior open-bite malocclusion | 1 | KLK4 CL E G H | 9622 | 6365 | OMIM:204700 | Amelogenesis imperfecta, hypomaturation type, iia1 | HP:0040284 - Very rare | | | 6 | | |
HP:0000689 | HP:0009102 | Anterior open-bite malocclusion | 1 | MMP20 CL E G H | 9313 | 7167 | OMIM:612529 | Amelogenesis imperfecta, hypomaturation type, iia2 | HP:0040283 - Occasional | | | 37 | | |
HP:0000689 | HP:0009102 | Anterior open-bite malocclusion | 1 | RELT CL E G H | 84957 | 13764 | OMIM:618386 | Amelogenesis imperfecta, type IIIC | . | | | | | |