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:0000687 | HP:0000687 | Widely spaced teeth | 0 | ACP4 CL E G H | 93650 | 14376 | OMIM:617297 | AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J | | | | 7 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | ACVR1 CL E G H | 90 | 171 | OMIM:135100 | Fibrodysplasia ossificans progressiva | . | | | 49 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | ADNP CL E G H | 23394 | 15766 | OMIM:615873 | Helsmoortel-van der Aa syndrome | | | | 47 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | AIMP2 CL E G H | 7965 | 20609 | OMIM:618006 | Leukodystrophy, hypomyelinating, 17 | . | | | 1 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | HP:0040282 - Frequent | | | 95 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | ALX4 CL E G H | 60529 | 450 | OMIM:613451 | Frontonasal dysplasia 2 | | | | 132 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | ARSK CL E G H | 153642 | 25239 | OMIM:619698 | MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10 | | | | | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | AXIN2 CL E G H | 8313 | 904 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 435 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | . | | | 36 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | BAP1 CL E G H | 8314 | 950 | OMIM:619762 | KURY-ISIDOR SYNDROME; KURIS | | | | 184 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | BCAS3 CL E G H | 54828 | 14347 | OMIM:619641 | HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS | | | | 2 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | CAMK2B CL E G H | 816 | 1461 | OMIM:617799 | Mental retardation, autosomal dominant 54 | | | | | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | . | | | | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | CDC42 CL E G H | 998 | 1736 | ORPHA:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | CDC42 CL E G H | 998 | 1736 | OMIM:616737 | Takenouchi-Kosaki syndrome | . | | | 6 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | CDH3 CL E G H | 1001 | 1762 | OMIM:225280 | Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome | . | | | 87 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | CDH3 CL E G H | 1001 | 1762 | ORPHA:1897 | EEM syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | CDK19 CL E G H | 23097 | 19338 | OMIM:618916 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87 | | | | | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | CDK5RAP2 CL E G H | 55755 | 18672 | OMIM:604804 | Microcephaly 3, primary, autosomal recessive | | | | 181 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | CERT1 CL E G H | 10087 | 2205 | OMIM:616351 | Mental retardation, autosomal dominant 34 | . | | | | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | . | | | 165 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | DLX3 CL E G H | 1747 | 2916 | ORPHA:3352 | Tricho-dento-osseous syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | DLX3 CL E G H | 1747 | 2916 | OMIM:190320 | Trichodentoosseous syndrome | . | | | 48 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | DPH1 CL E G H | 1801 | 3003 | ORPHA:459061 | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | HP:0040284 - Very rare | | | 134 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | EDA CL E G H | 1896 | 3157 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 115 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | EDARADD CL E G H | 128178 | 14341 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 56 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | EIF2S3 CL E G H | 1968 | 3267 | OMIM:300148 | Mehmo syndrome | . | | | 8 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:90322 | Cockayne syndrome type 2 | | | | 20 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 158 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 199 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90322 | Cockayne syndrome type 2 | | | | 199 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 55 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90322 | Cockayne syndrome type 2 | | | | 55 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | FGF3 CL E G H | 2248 | 3681 | ORPHA:90024 | Deafness with labyrinthine aplasia, microtia, and microdontia | HP:0040281 - Very frequent | | | 18 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | FGF3 CL E G H | 2248 | 3681 | OMIM:610706 | Deafness, congenital, with inner ear agenesis, microtia, and microdontia | . | | | 18 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 172 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | GALNS CL E G H | 2588 | 4122 | OMIM:253000 | Morquio syndrome A | . | | | 123 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:253010 | Mucopolysaccharidosis type IVB (Morquio) | . | | | 120 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | HP:0040282 - Frequent | | | 5 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | GPR101 CL E G H | 83550 | 14963 | OMIM:300942 | Chromosome Xq26.3 duplication syndrome | | | | 5 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | . | | | 54 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | HDAC4 CL E G H | 9759 | 14063 | OMIM:619797 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF | | | | 33 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | HDAC8 CL E G H | 55869 | 13315 | OMIM:300882 | Cornelia de Lange syndrome 5 | . | | | 37 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:618547 | NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA | | | | 11 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | . | | | 86 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | . | | | 93 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | . | | | 148 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | IFT43 CL E G H | 112752 | 29669 | OMIM:614099 | Cranioectodermal dysplasia 3 | . | | | 11 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | IFT52 CL E G H | 51098 | 15901 | OMIM:617102 | Short-Rib thoracic dysplasia 16 with or without polydactyly | . | | | 4 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 99 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | | | | 283 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | KATNB1 CL E G H | 10300 | 6217 | OMIM:616212 | Lissencephaly 6, with microcephaly | | | | 10 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | KDM1A CL E G H | 23028 | 29079 | OMIM:616728 | Cleft palate, psychomotor retardation, and distinctive facial features | | | | 3 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | KDM1A CL E G H | 23028 | 29079 | ORPHA:477993 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | KDM6A CL E G H | 7403 | 12637 | ORPHA:2322 | Kabuki syndrome | HP:0040282 - Frequent | | | 53 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619479 | SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21 | | | | 4 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | KMT2D CL E G H | 8085 | 7133 | ORPHA:2322 | Kabuki syndrome | HP:0040282 - Frequent | | | 660 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | LARP7 CL E G H | 51574 | 24912 | ORPHA:319671 | Alazami syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | LMBRD2 CL E G H | 92255 | 25287 | OMIM:619694 | DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA | | | | | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | LRP6 CL E G H | 4040 | 6698 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 26 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | LTBP3 CL E G H | 4054 | 6716 | OMIM:601216 | Dental anomalies and short stature | . | | | 12 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | MAN2B1 CL E G H | 4125 | 6826 | OMIM:248500 | Alpha-mannosidosis | . | | | 136 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040283 - Occasional | | | 136 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | . | | | 252 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | | | | 950 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:300895 | Ohdo syndrome, X-linked | | | | 228 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | MED13L CL E G H | 23389 | 22962 | ORPHA:369891 | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency | HP:0040283 - Occasional | | | 74 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | MED27 CL E G H | 9442 | 2377 | OMIM:619286 | NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC | | | | | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 12 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | NAA20 CL E G H | 51126 | 15908 | OMIM:619717 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73 | | | | | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | NARS1 CL E G H | 4677 | 7643 | OMIM:619092 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG | | | | | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | NDST1 CL E G H | 3340 | 7680 | OMIM:616116 | Mental retardation, autosomal recessive 46 | | | | 27 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | NECTIN4 CL E G H | 81607 | 19688 | OMIM:613573 | Ectodermal dysplasia-syndactyly syndrome 1 | . | | | 7 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 494 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | . | | | 494 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040282 - Frequent | | | 121 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | PAX9 CL E G H | 5083 | 8623 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 58 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | . | | | | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | . | | | 46 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:301072 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH | | | | 46 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | . | | | 36 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | PRKD1 CL E G H | 5587 | 9407 | OMIM:617364 | Congenital heart defects and ectodermal dysplasia | . | | | 7 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | PTPRF CL E G H | 5792 | 9670 | OMIM:616001 | Breasts and/or nipples, aplasia or hypoplasia of, 2 | | | | 1 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 25 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | RDH11 CL E G H | 51109 | 17964 | OMIM:616108 | Retinal dystrophy, juvenile cataracts, and short stature syndrome | . | | | 2 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | RLIM CL E G H | 51132 | 13429 | OMIM:300978 | Tonne-Kalscheuer syndrome | | | | 7 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | RNF113A CL E G H | 7737 | 12974 | OMIM:300953 | Trichothiodystrophy 5, nonphotosensitive | | | | 3 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:303600 | Coffin-Lowry syndrome | . | | | 65 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | SATB1 CL E G H | 6304 | 10541 | OMIM:619229 | KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL | | | | | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | SETD1A CL E G H | 9739 | 29010 | OMIM:619056 | NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID | | | | 6 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | SHANK3 CL E G H | 85358 | 14294 | OMIM:606232 | Phelan-Mcdermid syndrome | | | | 53 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:2728 | Blepharophimosis-intellectual disability syndrome, Ohdo type | HP:0040281 - Very frequent | | | 146 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | SMC1A CL E G H | 8243 | 11111 | OMIM:301044 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85 | | | | 135 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 91 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | SNRPN CL E G H | 6638 | 11164 | OMIM:105830 | Angelman syndrome | | | | 37 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | SSR4 CL E G H | 6748 | 11326 | OMIM:300934 | Congenital disorder of glycosylation, type Iy | | | | 12 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | SSR4 CL E G H | 6748 | 11326 | ORPHA:370927 | SSR4-CDG | HP:0040281 - Very frequent | | | 12 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | SUMO1 CL E G H | 7341 | 12502 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 8 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | TANC2 CL E G H | 26115 | 30212 | OMIM:618906 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS | | | | | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | HP:0040283 - Occasional | | | 271 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | TBCD CL E G H | 6904 | 11581 | OMIM:617193 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT | | | | 16 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | TBL1XR1 CL E G H | 79718 | 29529 | OMIM:602342 | Pierpont syndrome | | | | 22 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:487825 | Pierpont syndrome | HP:0040281 - Very frequent | | | 22 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | TBX4 CL E G H | 9496 | 11603 | ORPHA:261279 | 17q23.1q23.2 microdeletion syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | TCF4 CL E G H | 6925 | 11634 | OMIM:610954 | Pitt-Hopkins syndrome | . | | | 241 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | TGFA CL E G H | 7039 | 11765 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | . | | | 140 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:209885 | Barber-Say syndrome | | | | 7 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | UBE3A CL E G H | 7337 | 12496 | OMIM:105830 | Angelman syndrome | | | | 278 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411511 | Angelman syndrome due to a point mutation | HP:0040282 - Frequent | | | 278 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040282 - Frequent | | | 278 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98795 | Angelman syndrome due to paternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | 278 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | WDR26 CL E G H | 80232 | 21208 | ORPHA:513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | WDR26 CL E G H | 80232 | 21208 | OMIM:617616 | Skraban-Deardorff syndrome | . | | | 8 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | WNT10A CL E G H | 80326 | 13829 | OMIM:257980 | Odontoonychodermal dysplasia | | | | 71 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | WNT10A CL E G H | 80326 | 13829 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 71 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | WNT10B CL E G H | 7480 | 12775 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 4 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | . | | | 362 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | ZNF526 CL E G H | 116115 | 29415 | OMIM:619877 | | | | | 24 | | |
HP:0000687 | HP:0000687 | Widely spaced teeth | 0 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:617865 | Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | . | | | 5 | | |
HP:0000687 | HP:0006313 | Widely spaced primary teeth | 1 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 20 | | |
HP:0000687 | HP:0006313 | Widely spaced primary teeth | 1 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 158 | | |
HP:0000687 | HP:0006313 | Widely spaced primary teeth | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 199 | | |
HP:0000687 | HP:0006313 | Widely spaced primary teeth | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 199 | | |
HP:0000687 | HP:0006313 | Widely spaced primary teeth | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 55 | | |
HP:0000687 | HP:0006313 | Widely spaced primary teeth | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 55 | | |
HP:0000687 | HP:0006313 | Widely spaced primary teeth | 1 | RNF113A CL E G H | 7737 | 12974 | OMIM:300953 | Trichothiodystrophy 5, nonphotosensitive | . | | | 3 | | |
HP:0000687 | HP:0006313 | Widely spaced primary teeth | 1 | WNT10A CL E G H | 80326 | 13829 | OMIM:257980 | Odontoonychodermal dysplasia | | | | 71 | | |