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:0008544 | HP:0008544 | Abnormally folded helix | 0 | ACTB CL E G H | 60 | 132 | OMIM:243310 | Baraitser-Winter syndrome 1 | | | | 72 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | AGO2 CL E G H | 27161 | 3263 | OMIM:619149 | LESSEL-KREIENKAMP SYNDROME; LESKRES | | | | | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | | | | 34 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | AMMECR1 CL E G H | 9949 | 467 | OMIM:300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | | | | 2 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 1 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | ASXL2 CL E G H | 55252 | 23805 | OMIM:617190 | Shashi-Pena syndrome | | | | 7 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | BCL11A CL E G H | 53335 | 13221 | OMIM:617101 | Intellectual developmental disorder with persistence of fetal hemoglobin | | | | 11 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 101 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | BHLHA9 CL E G H | 727857 | 35126 | ORPHA:3329 | Tibial aplasia-ectrodactyly syndrome | | | | 4 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | | | | 8 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | | | | 515 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | CHUK CL E G H | 1147 | 1974 | OMIM:619339 | BARTSOCAS-PAPAS SYNDROME 2; BPS2 | | | | 3 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | CLIC2 CL E G H | 1193 | 2063 | ORPHA:324410 | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | | | | 4 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | | | | 284 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 6 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | | | | 101 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:618332 | MENKE-HENNEKAM SYNDROME 1; MKHK1 | | | | 291 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 57 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | | | | 2 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | DACT1 CL E G H | 51339 | 17748 | OMIM:617466 | Townes-Brocks syndrome 2 | | | | 2 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | DDX6 CL E G H | 1656 | 2747 | OMIM:618653 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF | | | | | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | EFTUD2 CL E G H | 9343 | 30858 | OMIM:610536 | Mandibulofacial dysostosis, Guion-Almeida type | | | | 48 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | EFTUD2 CL E G H | 9343 | 30858 | ORPHA:79113 | Mandibulofacial dysostosis-microcephaly syndrome | | | | 48 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | FANCB CL E G H | 2187 | 3583 | OMIM:300514 | FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB | | | | 58 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | FBN2 CL E G H | 2201 | 3604 | ORPHA:115 | Congenital contractural arachnodactyly | HP:0040281 - Very frequent | | | 655 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:313855 | FGFR2-related bent bone dysplasia | | | | 175 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | FN1 CL E G H | 2335 | 3778 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | | | | 9 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | FOXP2 CL E G H | 93986 | 13875 | ORPHA:209908 | Childhood apraxia of speech | | | | 143 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | FREM1 CL E G H | 158326 | 23399 | OMIM:608980 | Bifid nose with or without anorectal and renal anomalies | | | | 198 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | GNAI3 CL E G H | 2773 | 4387 | OMIM:602483 | Auriculocondylar syndrome 1 | | | | 2 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | GNB1 CL E G H | 2782 | 4396 | ORPHA:488613 | Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome | | | | 12 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | | | | 12 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 8 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 3 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | HOXA2 CL E G H | 3199 | 5103 | OMIM:612290 | MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE | | | | 21 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | | | | 345 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | | | | 345 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 2 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | | | | 283 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 24 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | LONP1 CL E G H | 9361 | 9479 | ORPHA:1458 | CODAS syndrome | | | | 8 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | | | | 4 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:309520 | Lujan-Fryns syndrome | . | | | 228 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 23 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | NARS1 CL E G H | 4677 | 7643 | OMIM:619092 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG | | | | | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | | | | 46 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | PIGB CL E G H | 9488 | 8959 | OMIM:618580 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80 | | | | | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | | | | 36 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | | | | 37 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | PIGN CL E G H | 23556 | 8967 | OMIM:614080 | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | | | | 37 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | PLCB4 CL E G H | 5332 | 9059 | OMIM:614669 | Auriculocondylar syndrome 2 | | | | 82 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | | | | | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | PYCR2 CL E G H | 29920 | 30262 | ORPHA:481152 | PYCR2-related microcephaly-progressive leukoencephalopathy | | | | 11 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:268400 | ROTHMUND-THOMSON SYNDROME; RTS | | | | 445 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | RPS23 CL E G H | 6228 | 10410 | OMIM:617412 | BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD | | | | 2 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | | | | 124 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | | | | 124 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | | | | 11 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | SCNM1 CL E G H | 79005 | 23136 | OMIM:620107 | | | | | | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | | | | 16 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | SLC16A2 CL E G H | 6567 | 10923 | OMIM:300523 | Allan-Herndon-Dudley syndrome | | | | 57 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:628 | Diastrophic dysplasia | | | | 166 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | SLC6A8 CL E G H | 6535 | 11055 | OMIM:300352 | Creatine deficiency syndrome, X-linked | | | | 122 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | SMC1A CL E G H | 8243 | 11111 | OMIM:301044 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85 | | | | 135 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 32 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | TBX2 CL E G H | 6909 | 11597 | OMIM:618223 | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | | | | | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | | | | 12 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | TGFB3 CL E G H | 7043 | 11769 | OMIM:615582 | LOEYS-DIETZ SYNDROME 5; LDS5 | | | | 85 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | | | | 1 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | TRIO CL E G H | 7204 | 12303 | OMIM:617061 | Mental retardation, autosomal dominant 44 | | | | 8 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | TWIST1 CL E G H | 7291 | 12428 | OMIM:617746 | Sweeney-Cox syndrome | | | | 18 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | VPS51 CL E G H | 738 | 1172 | OMIM:618606 | PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13 | | | | | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | ZMYND11 CL E G H | 10771 | 16966 | OMIM:616083 | Mental retardation, autosomal dominant 30 | | | | 24 | | |
HP:0008544 | HP:0008544 | Abnormally folded helix | 0 | ZNF462 CL E G H | 58499 | 21684 | OMIM:618619 | WEISS-KRUSZKA SYNDROME; WSKA | | | | 4 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | ACTB CL E G H | 60 | 132 | OMIM:243310 | Baraitser-Winter syndrome 1 | . | | | 72 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | AGO2 CL E G H | 27161 | 3263 | OMIM:619149 | LESSEL-KREIENKAMP SYNDROME; LESKRES | | | | | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | . | | | 34 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | AMMECR1 CL E G H | 9949 | 467 | OMIM:300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | | | | 2 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | ASXL2 CL E G H | 55252 | 23805 | OMIM:617190 | Shashi-Pena syndrome | | | | 7 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | BCL11A CL E G H | 53335 | 13221 | OMIM:617101 | Intellectual developmental disorder with persistence of fetal hemoglobin | . | | | 11 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 101 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | BHLHA9 CL E G H | 727857 | 35126 | ORPHA:3329 | Tibial aplasia-ectrodactyly syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | | | | 8 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | HP:0040281 - Very frequent | | | 515 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | CHUK CL E G H | 1147 | 1974 | OMIM:619339 | BARTSOCAS-PAPAS SYNDROME 2; BPS2 | | | | 3 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | CLIC2 CL E G H | 1193 | 2063 | ORPHA:324410 | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0008544 | HP:0008577 | Underfolded helix | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040283 - Occasional | | | 284 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | . | | | 101 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | CREBBP CL E G H | 1387 | 2348 | OMIM:618332 | MENKE-HENNEKAM SYNDROME 1; MKHK1 | | | | 291 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 57 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | DACT1 CL E G H | 51339 | 17748 | OMIM:617466 | Townes-Brocks syndrome 2 | . | | | 2 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | DDX6 CL E G H | 1656 | 2747 | OMIM:618653 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF | | | | | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | EFTUD2 CL E G H | 9343 | 30858 | OMIM:610536 | Mandibulofacial dysostosis, Guion-Almeida type | . | | | 48 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | EFTUD2 CL E G H | 9343 | 30858 | ORPHA:79113 | Mandibulofacial dysostosis-microcephaly syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | FANCB CL E G H | 2187 | 3583 | OMIM:300514 | FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB | | | | 58 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:313855 | FGFR2-related bent bone dysplasia | | | | 175 | | |
HP:0008544 | HP:0008577 | Underfolded helix | 1 | FN1 CL E G H | 2335 | 3778 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040283 - Occasional | | | 9 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | FOXP2 CL E G H | 93986 | 13875 | ORPHA:209908 | Childhood apraxia of speech | HP:0040284 - Very rare | | | 143 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | FREM1 CL E G H | 158326 | 23399 | OMIM:608980 | Bifid nose with or without anorectal and renal anomalies | | | | 198 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | GNAI3 CL E G H | 2773 | 4387 | OMIM:602483 | Auriculocondylar syndrome 1 | | | | 2 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | GNB1 CL E G H | 2782 | 4396 | ORPHA:488613 | Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome | HP:0040284 - Very rare | | | 12 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | | | | 12 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | HOXA2 CL E G H | 3199 | 5103 | OMIM:612290 | MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE | | | | 21 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040282 - Frequent | | | 345 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | . | | | 345 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | . | | | 283 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | LONP1 CL E G H | 9361 | 9479 | ORPHA:1458 | CODAS syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | | | | 4 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 23 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | NARS1 CL E G H | 4677 | 7643 | OMIM:619092 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG | | | | | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | . | | | 40 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | . | | | 46 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | PIGB CL E G H | 9488 | 8959 | OMIM:618580 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80 | | | | | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | . | | | 36 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | PIGN CL E G H | 23556 | 8967 | OMIM:614080 | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | . | | | 37 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | PLCB4 CL E G H | 5332 | 9059 | OMIM:614669 | Auriculocondylar syndrome 2 | | | | 82 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | . | | | | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | PYCR2 CL E G H | 29920 | 30262 | ORPHA:481152 | PYCR2-related microcephaly-progressive leukoencephalopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0008544 | HP:0008577 | Underfolded helix | 1 | RECQL4 CL E G H | 9401 | 9949 | OMIM:268400 | ROTHMUND-THOMSON SYNDROME; RTS | | | | 445 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | RECQL4 CL E G H | 9401 | 9949 | OMIM:268400 | ROTHMUND-THOMSON SYNDROME; RTS | | | | 445 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | RPS23 CL E G H | 6228 | 10410 | OMIM:617412 | BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD | | | | 2 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | HP:0040282 - Frequent | | | 124 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | | | | 124 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | | | | 11 | | |
HP:0008544 | HP:0008577 | Underfolded helix | 1 | SCNM1 CL E G H | 79005 | 23136 | OMIM:620107 | | | | | | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0008544 | HP:0008577 | Underfolded helix | 1 | SLC16A2 CL E G H | 6567 | 10923 | OMIM:300523 | Allan-Herndon-Dudley syndrome | | | | 57 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:628 | Diastrophic dysplasia | HP:0040282 - Frequent | | | 166 | | |
HP:0008544 | HP:0008577 | Underfolded helix | 1 | SLC6A8 CL E G H | 6535 | 11055 | OMIM:300352 | Creatine deficiency syndrome, X-linked | | | | 122 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | SMC1A CL E G H | 8243 | 11111 | OMIM:301044 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85 | | | | 135 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | TBX2 CL E G H | 6909 | 11597 | OMIM:618223 | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | . | | | | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | . | | | 12 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | TGFB3 CL E G H | 7043 | 11769 | OMIM:615582 | LOEYS-DIETZ SYNDROME 5; LDS5 | | | | 85 | | |
HP:0008544 | HP:0008577 | Underfolded helix | 1 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | | | | 1 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | TRIO CL E G H | 7204 | 12303 | OMIM:617061 | Mental retardation, autosomal dominant 44 | | | | 8 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | TWIST1 CL E G H | 7291 | 12428 | OMIM:617746 | Sweeney-Cox syndrome | . | | | 18 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | VPS51 CL E G H | 738 | 1172 | OMIM:618606 | PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13 | | | | | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | ZMYND11 CL E G H | 10771 | 16966 | OMIM:616083 | Mental retardation, autosomal dominant 30 | | | | 24 | | |
HP:0008544 | HP:0000396 | Overfolded helix | 1 | ZNF462 CL E G H | 58499 | 21684 | OMIM:618619 | WEISS-KRUSZKA SYNDROME; WSKA | | | | 4 | | |
HP:0008544 | HP:0004453 | Overfolding of the superior helices | 2 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0008544 | HP:0004453 | Overfolding of the superior helices | 2 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:313855 | FGFR2-related bent bone dysplasia | HP:0040281 - Very frequent | | | 175 | | |
HP:0008544 | HP:0004453 | Overfolding of the superior helices | 2 | GNAI3 CL E G H | 2773 | 4387 | OMIM:602483 | Auriculocondylar syndrome 1 | . | | | 2 | | |
HP:0008544 | HP:0004453 | Overfolding of the superior helices | 2 | PLCB4 CL E G H | 5332 | 9059 | OMIM:614669 | Auriculocondylar syndrome 2 | . | | | 82 | | |
HP:0008544 | HP:0004453 | Overfolding of the superior helices | 2 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | . | | | 124 | | |
HP:0008544 | HP:0008583 | Underfolded superior helices | 2 | SLC16A2 CL E G H | 6567 | 10923 | OMIM:300523 | Allan-Herndon-Dudley syndrome | | | | 57 | | |
HP:0008544 | HP:0008583 | Underfolded superior helices | 2 | SLC6A8 CL E G H | 6535 | 11055 | OMIM:300352 | Creatine deficiency syndrome, X-linked | . | | | 122 | | |