Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the dentition (HP:0000164)help
Parent Node:
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Tooth malposition (HP:0000692)help
..Starting node
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Dental crowding (HP:0000678)help
Term ID: 678
Name: Dental crowding
Synonym: Crowded teeth; Dental crowding; Dental overcrowding; Inadequate arch length for tooth size; Overcrowding of teeth; Tooth mass arch size discrepancy; Tooth size discrepancy
Definition: Changes in alignment of teeth in the dental arch
Comments:
Reference: HP:0000678
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDental malocclusion (HP:0000689) help
..expandDiastema (HP:0000699) help
..expandIncreased overbite (HP:0011094) help
..expandIrregularly spaced teeth (HP:0006316) help
..expandMisalignment of incisors (HP:0011062) help
..expandOpen bite (HP:0010807) help
..expandOverjet (HP:0011095) help
..expandWidely spaced teeth (HP:0000687) 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:0000678HP:0000678Dental crowding0ABL1 CL E G H2576OMIM:617602Congenital heart defects and skeletal malformations syndrome.51
HP:0000678HP:0000678Dental crowding0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent96
HP:0000678HP:0000678Dental crowding0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis.34
HP:0000678HP:0000678Dental crowding0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis.2
HP:0000678HP:0000678Dental crowding0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 1.29
HP:0000678HP:0000678Dental crowding0ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040283 - Occasional49
HP:0000678HP:0000678Dental crowding0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000678HP:0000678Dental crowding0ATP6V1E1 CL E G H529857OMIM:617402Cutis laxa, autosomal recessive, type IIC.2
HP:0000678HP:0000678Dental crowding0ATR CL E G H545882OMIM:210600Seckel syndrome 1.168
HP:0000678HP:0000678Dental crowding0BANF1 CL E G H881517397OMIM:614008Nestor-Guillermo progeria syndrome.22
HP:0000678HP:0000678Dental crowding0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1.114
HP:0000678HP:0000678Dental crowding0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0000678HP:0000678Dental crowding0BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies.13
HP:0000678HP:0000678Dental crowding0C12ORF57 CL E G H11324629521OMIM:218340Temtamy syndrome.13
HP:0000678HP:0000678Dental crowding0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0000678HP:0000678Dental crowding0CBS CL E G H8751550ORPHA:394Classic homocystinuriaHP:0040281 - Very frequent242
HP:0000678HP:0000678Dental crowding0CBS CL E G H8751550OMIM:236200Homocystinuria due to cystathionine beta-synthase deficiency.242
HP:0000678HP:0000678Dental crowding0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 1.4
HP:0000678HP:0000678Dental crowding0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome.
HP:0000678HP:0000678Dental crowding0COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndromeHP:0040282 - Frequent243
HP:0000678HP:0000678Dental crowding0COL3A1 CL E G H12812201OMIM:618343Polymicrogyria with or without vascular-type ehlers-danlos syndrome.749
HP:0000678HP:0000678Dental crowding0COL5A1 CL E G H12892209OMIM:619329FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF660
HP:0000678HP:0000678Dental crowding0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000678HP:0000678Dental crowding0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040283 - Occasional291
HP:0000678HP:0000678Dental crowding0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040283 - Occasional291
HP:0000678HP:0000678Dental crowding0DDR2 CL E G H49212731OMIM:618175WARBURG-CINOTTI SYNDROME; WRCN45
HP:0000678HP:0000678Dental crowding0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000678HP:0000678Dental crowding0DSE CL E G H2994021144OMIM:615539Ehlers-Danlos syndrome, musculocontractural type, 2.13
HP:0000678HP:0000678Dental crowding0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 1.14
HP:0000678HP:0000678Dental crowding0DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 2.14
HP:0000678HP:0000678Dental crowding0EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndromeHP:0040282 - Frequent6
HP:0000678HP:0000678Dental crowding0EDNRA CL E G H19093179OMIM:616367Mandibulofacial dysostosis with alopecia.3
HP:0000678HP:0000678Dental crowding0EMC10 CL E G H28436127609OMIM:619264NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0000678HP:0000678Dental crowding0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000678HP:0000678Dental crowding0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040283 - Occasional250
HP:0000678HP:0000678Dental crowding0FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0000678HP:0000678Dental crowding0FGFR1 CL E G H22603688OMIM:101600Pfeiffer syndrome.172
HP:0000678HP:0000678Dental crowding0FGFR2 CL E G H22633689OMIM:123500Crouzon syndrome.175
HP:0000678HP:0000678Dental crowding0FGFR2 CL E G H22633689OMIM:101600Pfeiffer syndrome.175
HP:0000678HP:0000678Dental crowding0FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome.332
HP:0000678HP:0000678Dental crowding0FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome.353
HP:0000678HP:0000678Dental crowding0FRAS1 CL E G H8014419185ORPHA:2052Fraser syndromeHP:0040282 - Frequent353
HP:0000678HP:0000678Dental crowding0FREM2 CL E G H34164025396ORPHA:2052Fraser syndromeHP:0040282 - Frequent263
HP:0000678HP:0000678Dental crowding0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive.68
HP:0000678HP:0000678Dental crowding0GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndromeHP:0040282 - Frequent2
HP:0000678HP:0000678Dental crowding0GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 1.2
HP:0000678HP:0000678Dental crowding0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000678HP:0000678Dental crowding0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7HP:0040283 - Occasional
HP:0000678HP:0000678Dental crowding0GRIP1 CL E G H2342618708ORPHA:2052Fraser syndromeHP:0040282 - Frequent80
HP:0000678HP:0000678Dental crowding0H19 CL E G H2831204713ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040282 - Frequent4
HP:0000678HP:0000678Dental crowding0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent2
HP:0000678HP:0000678Dental crowding0HNRNPH1 CL E G H31875041OMIM:620083
HP:0000678HP:0000678Dental crowding0IGF2 CL E G H34815466ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040282 - Frequent9
HP:0000678HP:0000678Dental crowding0IL11RA CL E G H35905967OMIM:614188Craniosynostosis and dental anomalies8
HP:0000678HP:0000678Dental crowding0IL1RAPL1 CL E G H111415996OMIM:300143Mental retardation, X-linked 21.42
HP:0000678HP:0000678Dental crowding0IL6ST CL E G H35726021OMIM:618523HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0000678HP:0000678Dental crowding0INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndromeHP:0040282 - Frequent229
HP:0000678HP:0000678Dental crowding0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent127
HP:0000678HP:0000678Dental crowding0KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis193
HP:0000678HP:0000678Dental crowding0KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional193
HP:0000678HP:0000678Dental crowding0KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional128
HP:0000678HP:0000678Dental crowding0KIDINS220 CL E G H5749829508OMIM:617296SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO4
HP:0000678HP:0000678Dental crowding0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040283 - Occasional
HP:0000678HP:0000678Dental crowding0LGI4 CL E G H16317518712OMIM:617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect.6
HP:0000678HP:0000678Dental crowding0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040283 - Occasional645
HP:0000678HP:0000678Dental crowding0LMNA CL E G H40006636OMIM:248370Mandibuloacral dysplasia.645
HP:0000678HP:0000678Dental crowding0LOX CL E G H40156664OMIM:617168Aortic aneurysm, familial thoracic 10HP:0040283 - Occasional6
HP:0000678HP:0000678Dental crowding0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0000678HP:0000678Dental crowding0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent2
HP:0000678HP:0000678Dental crowding0MASP1 CL E G H56486901OMIM:2579203mc syndrome 1.21
HP:0000678HP:0000678Dental crowding0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040282 - Frequent228
HP:0000678HP:0000678Dental crowding0MED12 CL E G H996811957ORPHA:776Lujan-Fryns syndromeHP:0040283 - Occasional228
HP:0000678HP:0000678Dental crowding0MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome.228
HP:0000678HP:0000678Dental crowding0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome.228
HP:0000678HP:0000678Dental crowding0MGAT2 CL E G H42477045ORPHA:79329MGAT2-CDGHP:0040283 - Occasional39
HP:0000678HP:0000678Dental crowding0MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A166
HP:0000678HP:0000678Dental crowding0MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent131
HP:0000678HP:0000678Dental crowding0MYMX CL E G H10192972652391OMIM:619941
HP:0000678HP:0000678Dental crowding0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 1.23
HP:0000678HP:0000678Dental crowding0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040282 - Frequent10
HP:0000678HP:0000678Dental crowding0NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0000678HP:0000678Dental crowding0NOTCH3 CL E G H48547883OMIM:130720Lateral meningocele syndrome.144
HP:0000678HP:0000678Dental crowding0NOTCH3 CL E G H48547883ORPHA:2789Lateral meningocele syndromeHP:0040282 - Frequent144
HP:0000678HP:0000678Dental crowding0NSDHL CL E G H5081413398ORPHA:251383CK syndromeHP:0040281 - Very frequent34
HP:0000678HP:0000678Dental crowding0NSDHL CL E G H5081413398OMIM:300831Ck syndrome.34
HP:0000678HP:0000678Dental crowding0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040283 - Occasional88
HP:0000678HP:0000678Dental crowding0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0000678HP:0000678Dental crowding0PEX6 CL E G H51908859OMIM:616617Heimler syndrome 2.98
HP:0000678HP:0000678Dental crowding0PIGK CL E G H100268965OMIM:618879NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0000678HP:0000678Dental crowding0PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndromeHP:0040282 - Frequent82
HP:0000678HP:0000678Dental crowding0PLCB4 CL E G H53329059OMIM:614669Auriculocondylar syndrome 2.82
HP:0000678HP:0000678Dental crowding0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1.105
HP:0000678HP:0000678Dental crowding0POLD1 CL E G H54249175OMIM:615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome.731
HP:0000678HP:0000678Dental crowding0PUS7 CL E G H5451726033OMIM:618342Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000678HP:0000678Dental crowding0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive.120
HP:0000678HP:0000678Dental crowding0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0000678HP:0000678Dental crowding0RPL10 CL E G H613410298ORPHA:435938X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndromeHP:0040282 - Frequent10
HP:0000678HP:0000678Dental crowding0RPS6KA3 CL E G H619710432OMIM:300844MENTAL RETARDATION, X-LINKED 19; MRX1965
HP:0000678HP:0000678Dental crowding0SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndromeHP:0040282 - Frequent34
HP:0000678HP:0000678Dental crowding0SATB2 CL E G H2331421637OMIM:612313Glass syndrome.34
HP:0000678HP:0000678Dental crowding0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040283 - Occasional34
HP:0000678HP:0000678Dental crowding0SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome.11
HP:0000678HP:0000678Dental crowding0SCUBE3 CL E G H22266313655OMIM:619184SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC21
HP:0000678HP:0000678Dental crowding0SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent144
HP:0000678HP:0000678Dental crowding0SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 58.1
HP:0000678HP:0000678Dental crowding0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29.143
HP:0000678HP:0000678Dental crowding0SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0000678HP:0000678Dental crowding0SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.3HP:0040283 - Occasional53
HP:0000678HP:0000678Dental crowding0SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0000678HP:0000678Dental crowding0SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type.19
HP:0000678HP:0000678Dental crowding0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040283 - Occasional19
HP:0000678HP:0000678Dental crowding0SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040283 - Occasional14
HP:0000678HP:0000678Dental crowding0SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 20.14
HP:0000678HP:0000678Dental crowding0SOBP CL E G H5508429256OMIM:613671Mental retardation, anterior maxillary protrusion, and strabismus29
HP:0000678HP:0000678Dental crowding0SOX5 CL E G H666011201ORPHA:313892Developmental and speech delay due to SOX5 deficiencyHP:0040282 - Frequent11
HP:0000678HP:0000678Dental crowding0SOX5 CL E G H666011201OMIM:616803Lamb-Shaffer syndrome11
HP:0000678HP:0000678Dental crowding0SPECC1L CL E G H2338429022OMIM:145420Hypertelorism, Teebi type.6
HP:0000678HP:0000678Dental crowding0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000678HP:0000678Dental crowding0TAB2 CL E G H2311817075ORPHA:228410Polyvalvular heart disease syndromeHP:0040282 - Frequent11
HP:0000678HP:0000678Dental crowding0TAF6 CL E G H687811540OMIM:617126Alazami-Yuan syndrome.5
HP:0000678HP:0000678Dental crowding0TECPR2 CL E G H989519957ORPHA:320385Hereditary sensory and autonomic neuropathy due to TECPR2 mutationHP:0040282 - Frequent39
HP:0000678HP:0000678Dental crowding0TECPR2 CL E G H989519957OMIM:615031Spastic paraplegia 49, autosomal recessive.39
HP:0000678HP:0000678Dental crowding0TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent54
HP:0000678HP:0000678Dental crowding0TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent108
HP:0000678HP:0000678Dental crowding0TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism.78
HP:0000678HP:0000678Dental crowding0TRIO CL E G H720412303OMIM:618825INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD638
HP:0000678HP:0000678Dental crowding0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 44.8
HP:0000678HP:0000678Dental crowding0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040282 - Frequent8
HP:0000678HP:0000678Dental crowding0TRPS1 CL E G H722712340OMIM:190351Trichorhinophalangeal syndrome, type III.171
HP:0000678HP:0000678Dental crowding0UPF3B CL E G H6510920439ORPHA:776Lujan-Fryns syndromeHP:0040283 - Occasional33
HP:0000678HP:0000678Dental crowding0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 1.98
HP:0000678HP:0000678Dental crowding0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 2.14
HP:0000678HP:0000678Dental crowding0ZBTB7A CL E G H5134118078OMIM:619769MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0000678HP:0000678Dental crowding0ZDHHC9 CL E G H5111418475ORPHA:776Lujan-Fryns syndromeHP:0040283 - Occasional10
HP:0000678HP:0000678Dental crowding0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040283 - Occasional362
HP:0000678HP:0000678Dental crowding0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040283 - Occasional362
HP:0000678HP:0000678Dental crowding0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040283 - Occasional83
HP:0000678HP:0000678Dental crowding0ZMPSTE24 CL E G H1026912877OMIM:608612Mandibuloacral dysplasia with type B lipodystrophy.83


Genes (109) :ABL1 ACTA1 AMER1 AMMECR1 ARL6 ASXL3 ATP6V1E1 ATR BANF1 BBS1 BCOR BMP2 C12ORF57 CAMK2B CBS CCDC28B CCDC47 COL1A2 COL3A1 COL5A1 CREBBP DDR2 DHCR7 DSE DVL1 EDN1 EDNRA EMC10 EP300 FBN1 FGFR1 FGFR2 FLCN FRAS1 FREM2 GJA1 GNAI3 GNB2 GRB10 GRIP1 H19 HACD1 HNRNPH1 IGF2 IL11RA IL1RAPL1 IL6ST INSR ITGA7 KCNJ2 KCNJ5 KIDINS220 KIF15 LGI4 LMNA LOX MADD MAP3K20 MASP1 MED12 MGAT2 MYH3 MYL2 MYMX NAA10 NONO NOTCH3 NSDHL OCRL PCGF2 PEX6 PIGK PLCB4 PLOD1 POLD1 PUS7 ROR2 RPL10 RPS6KA3 SATB2 SCARF2 SCUBE3 SELENON SET SETBP1 SETD5 SHANK3 SMC1A SMS SNX14 SOBP SOX5 SPECC1L SPEN TAB2 TAF6 TECPR2 TPM2 TPM3 TRIM37 TRIO TRPS1 UPF3B WNT5A XYLT1 ZBTB7A ZDHHC9 ZEB2 ZMPSTE24

Diseases (116) :OMIM:617602 ORPHA:2020 OMIM:300373 OMIM:300990 OMIM:209900 ORPHA:352577 OMIM:615485 OMIM:617402 OMIM:210600 OMIM:614008 OMIM:309800 OMIM:617877 OMIM:218340 OMIM:617799 ORPHA:394 OMIM:236200 OMIM:618268 ORPHA:230851 OMIM:618343 OMIM:619329 OMIM:180849 ORPHA:353281 ORPHA:353277 OMIM:618175 OMIM:270400 OMIM:615539 OMIM:180700 OMIM:616331 ORPHA:137888 OMIM:616367 OMIM:619264 ORPHA:353284 OMIM:154700 OMIM:101600 OMIM:123500 OMIM:610883 OMIM:219000 ORPHA:2052 OMIM:257850 OMIM:602483 OMIM:619503 ORPHA:96182 ORPHA:231140 OMIM:620083 OMIM:614188 OMIM:300143 OMIM:618523 ORPHA:769 OMIM:170390 ORPHA:37553 OMIM:617296 ORPHA:261323 OMIM:617468 ORPHA:740 OMIM:248370 OMIM:617168 OMIM:619005 OMIM:257920 ORPHA:93932 ORPHA:776 OMIM:309520 OMIM:305450 ORPHA:79329 OMIM:193700 OMIM:619941 ORPHA:466791 OMIM:300967 OMIM:130720 ORPHA:2789 ORPHA:251383 OMIM:300831 ORPHA:534 OMIM:618371 OMIM:616617 OMIM:618879 OMIM:614669 OMIM:225400 OMIM:615381 OMIM:618342 OMIM:268310 OMIM:300998 ORPHA:435938 OMIM:300844 ORPHA:251019 OMIM:612313 ORPHA:251028 OMIM:600920 OMIM:619184 OMIM:618106 OMIM:616078 OMIM:615761 ORPHA:48652 OMIM:301044 OMIM:309583 ORPHA:3063 ORPHA:397709 OMIM:616354 OMIM:613671 ORPHA:313892 OMIM:616803 OMIM:145420 OMIM:619312 ORPHA:228410 OMIM:617126 ORPHA:320385 OMIM:615031 OMIM:253250 OMIM:618825 OMIM:617061 ORPHA:476126 OMIM:190351 OMIM:615777 OMIM:619769 ORPHA:261552 ORPHA:261537 OMIM:608612
 

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