Human Phenotype Ontology 
Grandparent Node:
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Abnormal pinna morphology (HP:0000377)help
Parent Node:
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Abnormal helix morphology (HP:0011039)help
..Starting node
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Abnormally folded helix (HP:0008544)help
Term ID: 8544
Name: Abnormally folded helix
Synonym:
Definition: Any structural anomaly of the border of the helix, which usually forms a rolled rim but is highly variable in shape.
Comments:
Reference: HP:0008544
Genes and Diseases:
 
       Child Nodes:
........expandOverfolded helix (HP:0000396) help
................... HP:0004453 Overfolding of the superior helices
........expandUnderfolded helix (HP:0008577) help
................... HP:0008583 Underfolded superior helices

 Sister Nodes: 
..expandAbnormal incisura morphology (HP:0031228) help
..expandAbnormality of the crus of the helix (HP:0009895) help
..expandCleft helix (HP:0009902) help
..expandCrimped helix (HP:0011262) help
..expandDarwin tubercle of helix (HP:0011261) help
..expandDiscontinuous ascending root of helix (HP:0011264) help
..expandHypoplastic helices (HP:0008589) help
..expandLong hairs growing from helix of pinna (HP:0008528) help
..expandPointed helix (HP:0100810) help
..expandPosterior helix pit (HP:0008523) help
..expandProminent ear helix (HP:0009904) help
..expandSquared superior portion of helix (HP:0030026) help
..expandThickened helices (HP:0000391) help
..expandThin ear helix (HP:0009905) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008544HP:0008544Abnormally folded helix0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 172
HP:0008544HP:0008544Abnormally folded helix0AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0008544HP:0008544Abnormally folded helix0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis34
HP:0008544HP:0008544Abnormally folded helix0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0008544HP:0008544Abnormally folded helix0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0008544HP:0008544Abnormally folded helix0ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome7
HP:0008544HP:0008544Abnormally folded helix0BCL11A CL E G H5333513221OMIM:617101Intellectual developmental disorder with persistence of fetal hemoglobin11
HP:0008544HP:0008544Abnormally folded helix0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0008544HP:0008544Abnormally folded helix0BHLHA9 CL E G H72785735126ORPHA:3329Tibial aplasia-ectrodactyly syndrome4
HP:0008544HP:0008544Abnormally folded helix0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0008544HP:0008544Abnormally folded helix0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0008544HP:0008544Abnormally folded helix0CHD7 CL E G H5563620626ORPHA:138CHARGE syndrome515
HP:0008544HP:0008544Abnormally folded helix0CHUK CL E G H11471974OMIM:619339BARTSOCAS-PAPAS SYNDROME 2; BPS23
HP:0008544HP:0008544Abnormally folded helix0CLIC2 CL E G H11932063ORPHA:324410X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome4
HP:0008544HP:0008544Abnormally folded helix0COL2A1 CL E G H12802200ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' type284
HP:0008544HP:0008544Abnormally folded helix0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0008544HP:0008544Abnormally folded helix0CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal101
HP:0008544HP:0008544Abnormally folded helix0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0008544HP:0008544Abnormally folded helix0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy57
HP:0008544HP:0008544Abnormally folded helix0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndrome2
HP:0008544HP:0008544Abnormally folded helix0DACT1 CL E G H5133917748OMIM:617466Townes-Brocks syndrome 22
HP:0008544HP:0008544Abnormally folded helix0DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0008544HP:0008544Abnormally folded helix0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0008544HP:0008544Abnormally folded helix0EFTUD2 CL E G H934330858OMIM:610536Mandibulofacial dysostosis, Guion-Almeida type48
HP:0008544HP:0008544Abnormally folded helix0EFTUD2 CL E G H934330858ORPHA:79113Mandibulofacial dysostosis-microcephaly syndrome48
HP:0008544HP:0008544Abnormally folded helix0FANCB CL E G H21873583OMIM:300514FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB58
HP:0008544HP:0008544Abnormally folded helix0FBN2 CL E G H22013604ORPHA:115Congenital contractural arachnodactylyHP:0040281 - Very frequent655
HP:0008544HP:0008544Abnormally folded helix0FGFR2 CL E G H22633689ORPHA:313855FGFR2-related bent bone dysplasia175
HP:0008544HP:0008544Abnormally folded helix0FN1 CL E G H23353778ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' type9
HP:0008544HP:0008544Abnormally folded helix0FOXP2 CL E G H9398613875ORPHA:209908Childhood apraxia of speech143
HP:0008544HP:0008544Abnormally folded helix0FREM1 CL E G H15832623399OMIM:608980Bifid nose with or without anorectal and renal anomalies198
HP:0008544HP:0008544Abnormally folded helix0GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 12
HP:0008544HP:0008544Abnormally folded helix0GNB1 CL E G H27824396ORPHA:488613Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome12
HP:0008544HP:0008544Abnormally folded helix0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0008544HP:0008544Abnormally folded helix0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0008544HP:0008544Abnormally folded helix0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0008544HP:0008544Abnormally folded helix0HOXA2 CL E G H31995103OMIM:612290MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE21
HP:0008544HP:0008544Abnormally folded helix0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndrome345
HP:0008544HP:0008544Abnormally folded helix0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1345
HP:0008544HP:0008544Abnormally folded helix0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0008544HP:0008544Abnormally folded helix0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0008544HP:0008544Abnormally folded helix0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy24
HP:0008544HP:0008544Abnormally folded helix0LONP1 CL E G H93619479ORPHA:1458CODAS syndrome8
HP:0008544HP:0008544Abnormally folded helix0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0008544HP:0008544Abnormally folded helix0MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome.228
HP:0008544HP:0008544Abnormally folded helix0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 123
HP:0008544HP:0008544Abnormally folded helix0NARS1 CL E G H46777643OMIM:619092NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0008544HP:0008544Abnormally folded helix0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0008544HP:0008544Abnormally folded helix0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 246
HP:0008544HP:0008544Abnormally folded helix0PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0008544HP:0008544Abnormally folded helix0PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome36
HP:0008544HP:0008544Abnormally folded helix0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0008544HP:0008544Abnormally folded helix0PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 137
HP:0008544HP:0008544Abnormally folded helix0PLCB4 CL E G H53329059OMIM:614669Auriculocondylar syndrome 282
HP:0008544HP:0008544Abnormally folded helix0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0008544HP:0008544Abnormally folded helix0PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0008544HP:0008544Abnormally folded helix0PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathy11
HP:0008544HP:0008544Abnormally folded helix0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0008544HP:0008544Abnormally folded helix0RPS23 CL E G H622810410OMIM:617412BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD2
HP:0008544HP:0008544Abnormally folded helix0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0008544HP:0008544Abnormally folded helix0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndrome124
HP:0008544HP:0008544Abnormally folded helix0SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1124
HP:0008544HP:0008544Abnormally folded helix0SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome11
HP:0008544HP:0008544Abnormally folded helix0SCNM1 CL E G H7900523136OMIM:620107
HP:0008544HP:0008544Abnormally folded helix0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0008544HP:0008544Abnormally folded helix0SEMA3E CL E G H972310727ORPHA:138CHARGE syndrome16
HP:0008544HP:0008544Abnormally folded helix0SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome57
HP:0008544HP:0008544Abnormally folded helix0SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasia166
HP:0008544HP:0008544Abnormally folded helix0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked122
HP:0008544HP:0008544Abnormally folded helix0SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0008544HP:0008544Abnormally folded helix0TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0008544HP:0008544Abnormally folded helix0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0008544HP:0008544Abnormally folded helix0TBX2 CL E G H690911597OMIM:618223VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0008544HP:0008544Abnormally folded helix0TCF3 CL E G H692911633OMIM:619824AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B2
HP:0008544HP:0008544Abnormally folded helix0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0008544HP:0008544Abnormally folded helix0TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0008544HP:0008544Abnormally folded helix0TMEM94 CL E G H977228983OMIM:618316Intellectual developmental disorder with cardiac defects and dysmorphic facies1
HP:0008544HP:0008544Abnormally folded helix0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0008544HP:0008544Abnormally folded helix0TWIST1 CL E G H729112428OMIM:617746Sweeney-Cox syndrome18
HP:0008544HP:0008544Abnormally folded helix0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0008544HP:0008544Abnormally folded helix0VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0008544HP:0008544Abnormally folded helix0ZMYND11 CL E G H1077116966OMIM:616083Mental retardation, autosomal dominant 3024
HP:0008544HP:0008544Abnormally folded helix0ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0008544HP:0000396Overfolded helix1ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 1.72
HP:0008544HP:0000396Overfolded helix1AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0008544HP:0000396Overfolded helix1AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis.34
HP:0008544HP:0000396Overfolded helix1AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0008544HP:0000396Overfolded helix1ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent1
HP:0008544HP:0000396Overfolded helix1ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome7
HP:0008544HP:0000396Overfolded helix1BCL11A CL E G H5333513221OMIM:617101Intellectual developmental disorder with persistence of fetal hemoglobin.11
HP:0008544HP:0000396Overfolded helix1BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0008544HP:0000396Overfolded helix1BHLHA9 CL E G H72785735126ORPHA:3329Tibial aplasia-ectrodactyly syndromeHP:0040283 - Occasional4
HP:0008544HP:0000396Overfolded helix1BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0008544HP:0000396Overfolded helix1CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0008544HP:0000396Overfolded helix1CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040281 - Very frequent515
HP:0008544HP:0000396Overfolded helix1CHUK CL E G H11471974OMIM:619339BARTSOCAS-PAPAS SYNDROME 2; BPS23
HP:0008544HP:0000396Overfolded helix1CLIC2 CL E G H11932063ORPHA:324410X-linked intellectual disability-cardiomegaly-congestive heart failure syndromeHP:0040282 - Frequent4
HP:0008544HP:0008577Underfolded helix1COL2A1 CL E G H12802200ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040283 - Occasional284
HP:0008544HP:0000396Overfolded helix1COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent6
HP:0008544HP:0000396Overfolded helix1CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal.101
HP:0008544HP:0000396Overfolded helix1CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0008544HP:0000396Overfolded helix1CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional57
HP:0008544HP:0000396Overfolded helix1DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040282 - Frequent2
HP:0008544HP:0000396Overfolded helix1DACT1 CL E G H5133917748OMIM:617466Townes-Brocks syndrome 2.2
HP:0008544HP:0000396Overfolded helix1DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0008544HP:0000396Overfolded helix1EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0008544HP:0000396Overfolded helix1EFTUD2 CL E G H934330858OMIM:610536Mandibulofacial dysostosis, Guion-Almeida type.48
HP:0008544HP:0000396Overfolded helix1EFTUD2 CL E G H934330858ORPHA:79113Mandibulofacial dysostosis-microcephaly syndromeHP:0040282 - Frequent48
HP:0008544HP:0000396Overfolded helix1FANCB CL E G H21873583OMIM:300514FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB58
HP:0008544HP:0000396Overfolded helix1FGFR2 CL E G H22633689ORPHA:313855FGFR2-related bent bone dysplasia175
HP:0008544HP:0008577Underfolded helix1FN1 CL E G H23353778ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040283 - Occasional9
HP:0008544HP:0000396Overfolded helix1FOXP2 CL E G H9398613875ORPHA:209908Childhood apraxia of speechHP:0040284 - Very rare143
HP:0008544HP:0000396Overfolded helix1FREM1 CL E G H15832623399OMIM:608980Bifid nose with or without anorectal and renal anomalies198
HP:0008544HP:0000396Overfolded helix1GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 12
HP:0008544HP:0000396Overfolded helix1GNB1 CL E G H27824396ORPHA:488613Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndromeHP:0040284 - Very rare12
HP:0008544HP:0000396Overfolded helix1GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0008544HP:0000396Overfolded helix1GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent8
HP:0008544HP:0000396Overfolded helix1HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent3
HP:0008544HP:0000396Overfolded helix1HOXA2 CL E G H31995103OMIM:612290MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE21
HP:0008544HP:0000396Overfolded helix1HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040282 - Frequent345
HP:0008544HP:0000396Overfolded helix1HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1.345
HP:0008544HP:0000396Overfolded helix1JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent2
HP:0008544HP:0000396Overfolded helix1KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome.283
HP:0008544HP:0000396Overfolded helix1KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional24
HP:0008544HP:0000396Overfolded helix1LONP1 CL E G H93619479ORPHA:1458CODAS syndromeHP:0040281 - Very frequent8
HP:0008544HP:0000396Overfolded helix1MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0008544HP:0000396Overfolded helix1NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 1.23
HP:0008544HP:0000396Overfolded helix1NARS1 CL E G H46777643OMIM:619092NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0008544HP:0000396Overfolded helix1NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome.40
HP:0008544HP:0000396Overfolded helix1PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 2.46
HP:0008544HP:0000396Overfolded helix1PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0008544HP:0000396Overfolded helix1PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome.36
HP:0008544HP:0000396Overfolded helix1PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0008544HP:0000396Overfolded helix1PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 1.37
HP:0008544HP:0000396Overfolded helix1PLCB4 CL E G H53329059OMIM:614669Auriculocondylar syndrome 282
HP:0008544HP:0000396Overfolded helix1PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0008544HP:0000396Overfolded helix1PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy.
HP:0008544HP:0000396Overfolded helix1PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathyHP:0040283 - Occasional11
HP:0008544HP:0008577Underfolded helix1RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0008544HP:0000396Overfolded helix1RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0008544HP:0000396Overfolded helix1RPS23 CL E G H622810410OMIM:617412BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD2
HP:0008544HP:0000396Overfolded helix1RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0008544HP:0000396Overfolded helix1SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040282 - Frequent124
HP:0008544HP:0000396Overfolded helix1SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1124
HP:0008544HP:0000396Overfolded helix1SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome11
HP:0008544HP:0008577Underfolded helix1SCNM1 CL E G H7900523136OMIM:620107
HP:0008544HP:0000396Overfolded helix1SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0008544HP:0000396Overfolded helix1SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040281 - Very frequent16
HP:0008544HP:0008577Underfolded helix1SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome57
HP:0008544HP:0000396Overfolded helix1SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasiaHP:0040282 - Frequent166
HP:0008544HP:0008577Underfolded helix1SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked122
HP:0008544HP:0000396Overfolded helix1SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0008544HP:0000396Overfolded helix1TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0008544HP:0000396Overfolded helix1TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent32
HP:0008544HP:0000396Overfolded helix1TBX2 CL E G H690911597OMIM:618223VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION.
HP:0008544HP:0000396Overfolded helix1TCF3 CL E G H692911633OMIM:619824AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B2
HP:0008544HP:0000396Overfolded helix1TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0008544HP:0000396Overfolded helix1TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0008544HP:0008577Underfolded helix1TMEM94 CL E G H977228983OMIM:618316Intellectual developmental disorder with cardiac defects and dysmorphic facies1
HP:0008544HP:0000396Overfolded helix1TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0008544HP:0000396Overfolded helix1TWIST1 CL E G H729112428OMIM:617746Sweeney-Cox syndrome.18
HP:0008544HP:0000396Overfolded helix1UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0008544HP:0000396Overfolded helix1VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0008544HP:0000396Overfolded helix1ZMYND11 CL E G H1077116966OMIM:616083Mental retardation, autosomal dominant 3024
HP:0008544HP:0000396Overfolded helix1ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0008544HP:0004453Overfolding of the superior helices2BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0008544HP:0004453Overfolding of the superior helices2FGFR2 CL E G H22633689ORPHA:313855FGFR2-related bent bone dysplasiaHP:0040281 - Very frequent175
HP:0008544HP:0004453Overfolding of the superior helices2GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 1.2
HP:0008544HP:0004453Overfolding of the superior helices2PLCB4 CL E G H53329059OMIM:614669Auriculocondylar syndrome 2.82
HP:0008544HP:0004453Overfolding of the superior helices2SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1.124
HP:0008544HP:0008583Underfolded superior helices2SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome57
HP:0008544HP:0008583Underfolded superior helices2SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked.122


Genes (77) :ACTB AGO2 AMER1 AMMECR1 ARVCF ASXL2 BCL11A BCOR BHLHA9 BICRA CDK13 CHD7 CHUK CLIC2 COL2A1 COMT CPT2 CREBBP CSPP1 DACT1 DDX6 EBF3 EFTUD2 FANCB FBN2 FGFR2 FN1 FOXP2 FREM1 GNAI3 GNB1 GP1BB HIRA HOXA2 HSPG2 JMJD1C KANSL1 KIAA0586 LONP1 MAPRE2 MED12 NAA10 NARS1 NFIX PIGA PIGB PIGL PIGN PLCB4 PPP1CB PPP2R3C PYCR2 RECQL4 RPS23 RREB1 SALL1 SCARF2 SCNM1 SEC24C SEMA3E SLC16A2 SLC26A2 SLC6A8 SMC1A TASP1 TBX1 TBX2 TCF3 TFAP2A TGFB3 TMEM94 TRIO TWIST1 UFD1 VPS51 ZMYND11 ZNF462

Diseases (70) :OMIM:243310 OMIM:619149 OMIM:300373 OMIM:300990 ORPHA:567 OMIM:617190 OMIM:617101 OMIM:309800 ORPHA:3329 OMIM:619325 OMIM:617360 ORPHA:138 OMIM:619339 ORPHA:324410 ORPHA:93315 OMIM:608836 OMIM:618332 ORPHA:397715 ORPHA:857 OMIM:617466 OMIM:618653 OMIM:617330 OMIM:610536 ORPHA:79113 OMIM:300514 ORPHA:115 ORPHA:313855 ORPHA:209908 OMIM:608980 OMIM:602483 ORPHA:488613 OMIM:616973 OMIM:612290 ORPHA:800 OMIM:255800 OMIM:610443 ORPHA:1458 OMIM:616734 OMIM:309520 OMIM:619092 OMIM:602535 OMIM:300868 OMIM:618580 OMIM:280000 ORPHA:280633 OMIM:614080 OMIM:614669 OMIM:617506 OMIM:618419 ORPHA:481152 OMIM:268400 OMIM:617412 OMIM:107480 OMIM:600920 OMIM:620107 OMIM:300523 ORPHA:628 OMIM:300352 OMIM:301044 OMIM:618950 OMIM:618223 OMIM:619824 OMIM:113620 OMIM:615582 OMIM:618316 OMIM:617061 OMIM:617746 OMIM:618606 OMIM:616083 OMIM:618619
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.