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:0000691 | HP:0000691 | Microdontia | 0 | ADGRV1 CL E G H | 84059 | 17416 | ORPHA:231178 | Usher syndrome type 2 | HP:0040283 - Occasional | | | 530 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | ANAPC1 CL E G H | 64682 | 19988 | ORPHA:221008 | Rothmund-Thomson syndrome type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:2834 | Wrinkly skin syndrome | | | | 140 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:278250 | Wrinkly skin syndrome | . | | | 140 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79499 | Autosomal dominant deafness-onychodystrophy syndrome | | | | 5 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | AXIN2 CL E G H | 8313 | 904 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 435 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 38 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | . | | | 5 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | BCL11B CL E G H | 64919 | 13222 | OMIM:618092 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES | . | | | 3 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | C1R CL E G H | 715 | 1246 | ORPHA:75392 | Periodontal Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | C1S CL E G H | 716 | 1247 | ORPHA:75392 | Periodontal Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:601005 | Timothy syndrome | . | | | 572 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | . | | | | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | CDH11 CL E G H | 1009 | 1750 | OMIM:619736 | TEEBI HYPERTELORISM SYNDROME 2; TBHS2 | | | | 2 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | CDH3 CL E G H | 1001 | 1762 | OMIM:225280 | Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome | . | | | 87 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | CDH3 CL E G H | 1001 | 1762 | ORPHA:1897 | EEM syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | | | | 8 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | . | | | 165 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | . | | | 165 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | CHSY1 CL E G H | 22856 | 17198 | OMIM:605282 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | CKAP2L CL E G H | 150468 | 26877 | OMIM:272440 | Filippi syndrome | . | | | 7 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 749 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | HP:0040283 - Occasional | | | 20 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | DLX3 CL E G H | 1747 | 2916 | ORPHA:3352 | Tricho-dento-osseous syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | DLX3 CL E G H | 1747 | 2916 | OMIM:190320 | Trichodentoosseous syndrome | . | | | 48 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:617052 | Bone marrow failure syndrome 3 | . | | | 5 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | DPF2 CL E G H | 5977 | 9964 | OMIM:618027 | Coffin-Siris syndrome 7 | . | | | | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | . | | | 115 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | EDA CL E G H | 1896 | 3157 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 115 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | EDA CL E G H | 1896 | 3157 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 115 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | EDA2R CL E G H | 60401 | 17756 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 11 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | EDAR CL E G H | 10913 | 2895 | OMIM:129490 | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | . | | | 86 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | EDAR CL E G H | 10913 | 2895 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 86 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:129490 | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | . | | | 56 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 56 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | EDARADD CL E G H | 128178 | 14341 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 56 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 172 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | EVC CL E G H | 2121 | 3497 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040282 - Frequent | | | 209 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | EVC2 CL E G H | 132884 | 19747 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040282 - Frequent | | | 137 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:113650 | Branchiootorenal syndrome 1 | . | | | 135 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | FAM20C CL E G H | 56975 | 22140 | OMIM:259775 | Raine syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | FGF3 CL E G H | 2248 | 3681 | ORPHA:90024 | Deafness with labyrinthine aplasia, microtia, and microdontia | HP:0040281 - Very frequent | | | 18 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | FGF3 CL E G H | 2248 | 3681 | OMIM:610706 | Deafness, congenital, with inner ear agenesis, microtia, and microdontia | . | | | 18 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 172 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | FOXC1 CL E G H | 2296 | 3800 | ORPHA:782 | Axenfeld-Rieger syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | FOXC1 CL E G H | 2296 | 3800 | OMIM:602482 | Axenfeld-rieger syndrome, type 3 | . | | | 63 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | GHR CL E G H | 2690 | 4263 | ORPHA:633 | Laron syndrome | HP:0040281 - Very frequent | | | 98 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | . | | | 68 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:148210 | Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant | | | | 199 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | GLI1 CL E G H | 2735 | 4317 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | GRB10 CL E G H | 2887 | 4564 | ORPHA:96182 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | HP:0040283 - Occasional | | | | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | HEPHL1 CL E G H | 341208 | 30477 | OMIM:261990 | PILI TORTI AND DEVELOPMENTAL DELAY | | | | | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | . | | | 115 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | . | | | 93 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | IFT122 CL E G H | 55764 | 13556 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 93 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | . | | | 148 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | IFT43 CL E G H | 112752 | 29669 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 11 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | IFT52 CL E G H | 51098 | 15901 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 4 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 99 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | KAT6B CL E G H | 23522 | 17582 | OMIM:603736 | Ohdo syndrome, sbbys variant | . | | | 141 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | KDM6A CL E G H | 7403 | 12637 | ORPHA:2322 | Kabuki syndrome | HP:0040282 - Frequent | | | 53 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619479 | SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21 | | | | 4 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | KMT2D CL E G H | 8085 | 7133 | ORPHA:2322 | Kabuki syndrome | HP:0040282 - Frequent | | | 660 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | LAMB3 CL E G H | 3914 | 6490 | OMIM:104530 | Amelogenesis imperfecta, type IA | | | | 167 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | LMBRD2 CL E G H | 92255 | 25287 | OMIM:619694 | DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA | | | | | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | LRP6 CL E G H | 4040 | 6698 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 26 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | LTBP3 CL E G H | 4054 | 6716 | OMIM:601216 | Dental anomalies and short stature | . | | | 12 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | HP:0040283 - Occasional | | | 4 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | MCOLN1 CL E G H | 57192 | 13356 | ORPHA:578 | Mucolipidosis type IV | HP:0040283 - Occasional | | | 78 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:300895 | Ohdo syndrome, X-linked | | | | 228 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 12 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | MSX1 CL E G H | 4487 | 7391 | OMIM:189500 | Witkop syndrome | | | | 12 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | MYO7A CL E G H | 4647 | 7606 | ORPHA:231178 | Usher syndrome type 2 | HP:0040283 - Occasional | | | 516 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | NECTIN1 CL E G H | 5818 | 9706 | OMIM:225060 | Cleft lip/palate-ectodermal dysplasia syndrome | . | | | 4 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | NHP2 CL E G H | 55651 | 14377 | OMIM:224230 | Dyskeratosis congenita, autosomal recessive 1 | . | | | 27 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | NOP10 CL E G H | 55505 | 14378 | OMIM:224230 | Dyskeratosis congenita, autosomal recessive 1 | . | | | 17 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | . | | | 53 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | P4HB CL E G H | 5034 | 8548 | OMIM:112240 | Cole-Carpenter syndrome 1 | . | | | 2 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | PAX9 CL E G H | 5083 | 8623 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 58 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | PAX9 CL E G H | 5083 | 8623 | OMIM:604625 | Tooth agenesis, selective, 3 | HP:0040283 - Occasional | | | 58 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | . | | | | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | PCNT CL E G H | 5116 | 16068 | ORPHA:2637 | Microcephalic osteodysplastic primordial dwarfism type II | HP:0040282 - Frequent | | | 531 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | HP:0040283 - Occasional | | | 531 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | PDZD7 CL E G H | 79955 | 26257 | ORPHA:231178 | Usher syndrome type 2 | HP:0040283 - Occasional | | | 40 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | . | | | 46 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:301072 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH | | | | 46 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | PIGF CL E G H | 5281 | 8962 | OMIM:619356 | ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS | | | | | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:3474 | CHIME syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | PIK3C2A CL E G H | 5286 | 8971 | ORPHA:557003 | Oculocerebrodental syndrome | HP:0040283 - Occasional | | | | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:3163 | SHORT syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | PITX2 CL E G H | 5308 | 9005 | ORPHA:782 | Axenfeld-Rieger syndrome | HP:0040283 - Occasional | | | 51 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | PITX2 CL E G H | 5308 | 9005 | OMIM:180500 | Axenfeld-rieger syndrome, type 1 | | | | 51 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | PLXNA1 CL E G H | 5361 | 9099 | OMIM:619955 | | | | | | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:570 | Moebius syndrome | HP:0040283 - Occasional | | | | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | PRKACA CL E G H | 5566 | 9380 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | PRKACB CL E G H | 5567 | 9381 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | PRKD1 CL E G H | 5587 | 9407 | OMIM:617364 | Congenital heart defects and ectodermal dysplasia | . | | | 7 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | RBBP8 CL E G H | 5932 | 9891 | OMIM:606744 | Seckel syndrome 2 | . | | | 68 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:221016 | Rothmund-Thomson syndrome type 2 | HP:0040283 - Occasional | | | 445 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:268400 | ROTHMUND-THOMSON SYNDROME; RTS | | | | 445 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | REV3L CL E G H | 5980 | 9968 | ORPHA:570 | Moebius syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | RHOA CL E G H | 387 | 667 | OMIM:618727 | ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB | | | | 8 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:607095 | Anauxetic dysplasia | | | | 37 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | HP:0040283 - Occasional | | | 34 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | SCNM1 CL E G H | 79005 | 23136 | OMIM:620107 | | | | | | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | SEC23A CL E G H | 10484 | 10701 | ORPHA:50814 | Craniolenticulosutural dysplasia | HP:0040281 - Very frequent | | | 2 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | SIX1 CL E G H | 6495 | 10887 | OMIM:113650 | Branchiootorenal syndrome 1 | . | | | 50 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:2728 | Blepharophimosis-intellectual disability syndrome, Ohdo type | HP:0040281 - Very frequent | | | 146 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | . | | | 74 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040282 - Frequent | | | 74 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | SMC3 CL E G H | 9126 | 2468 | OMIM:610759 | Cornelia de Lange syndrome 3 | | | | 91 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | SMOC2 CL E G H | 64094 | 20323 | OMIM:125400 | Dentin dysplasia, type I, with microdontia and misshapen teeth | HP:0040283 - Occasional | | | 4 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | | | | 37 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | SUMO1 CL E G H | 7341 | 12502 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 8 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | TCF12 CL E G H | 6938 | 11623 | OMIM:619718 | HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26 | | | | 28 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | TFAP2A CL E G H | 7020 | 11742 | ORPHA:1297 | Branchio-oculo-facial syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | TGFA CL E G H | 7039 | 11765 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | HP:0040283 - Occasional | | | | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:103285 | Adult syndrome | . | | | 140 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | . | | | 140 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | . | | | 140 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190350 | Trichorhinophalangeal syndrome, type I | . | | | 171 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:920 | Ablepharon macrostomia syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | UBE3B CL E G H | 89910 | 13478 | ORPHA:2707 | Oculocerebrofacial syndrome, Kaufman type | HP:0040282 - Frequent | | | 13 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | UBR1 CL E G H | 197131 | 16808 | ORPHA:2315 | Johanson-Blizzard syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | USH2A CL E G H | 7399 | 12601 | ORPHA:231178 | Usher syndrome type 2 | HP:0040283 - Occasional | | | 777 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 95 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 136 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:614091 | Short-Rib thoracic dysplasia 7 with or without polydactyly | . | | | 136 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | WDR4 CL E G H | 10785 | 12756 | OMIM:618347 | Galloway-Mowat syndrome 6 | . | | | | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | WHRN CL E G H | 25861 | 16361 | ORPHA:231178 | Usher syndrome type 2 | HP:0040283 - Occasional | | | 155 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | WNT10A CL E G H | 80326 | 13829 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 71 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | WNT10B CL E G H | 7480 | 12775 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 4 | | |
HP:0000691 | HP:0000691 | Microdontia | 0 | WNT10B CL E G H | 7480 | 12775 | OMIM:617073 | Tooth agenesis, selective, 8 | . | | | 4 | | |
HP:0000691 | HP:0001593 | Maxillary lateral incisor microdontia | 1 | CL E G H | | | | | | | | | | |
HP:0000691 | HP:0200141 | Small, conical teeth | 1 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:2834 | Wrinkly skin syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0000691 | HP:0200141 | Small, conical teeth | 1 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79499 | Autosomal dominant deafness-onychodystrophy syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000691 | HP:0006311 | Generalized microdontia | 1 | LAMB3 CL E G H | 3914 | 6490 | OMIM:104530 | Amelogenesis imperfecta, type IA | . | | | 167 | | |
HP:0000691 | HP:0006347 | Microdontia of primary teeth | 1 | MSX1 CL E G H | 4487 | 7391 | OMIM:189500 | Witkop syndrome | . | | | 12 | | |
HP:0000691 | HP:0006347 | Microdontia of primary teeth | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040283 - Occasional | | | 37 | | |
HP:0000691 | HP:0006347 | Microdontia of primary teeth | 1 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | . | | | 6 | | |
HP:0000691 | HP:0200141 | Small, conical teeth | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | . | | | 140 | | |