Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the dentition (HP:0000164)help
Parent Node:
expand
Tooth malposition (HP:0000692)help
..Starting node
..expand
Dental malocclusion (HP:0000689)help
Term ID: 689
Name: Dental malocclusion
Synonym: Angle class 2 malocclusion; Angle class 3 malocclusion; Bad bite; Bilateral crossbite; Bilateral crossbite malocclusion; Incorrect relation between upper and lower dental arches; Malalignment of upper and lower dental arches; Malocclusion; Malocclusion of teeth; Misalignment of upper and lower dental arches; Occlusion anomaly
Definition: Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.
Comments:
Reference: HP:0000689
Genes and Diseases:
 
       Child Nodes:
........expandAnterior open-bite malocclusion (HP:0009102) help

 Sister Nodes: 
..expandDental crowding (HP:0000678) 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:0000689HP:0000689Dental malocclusion0ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0000689HP:0000689Dental malocclusion0ACP5 CL E G H54124ORPHA:1855SpondyloenchondrodysplasiaHP:0040283 - Occasional16
HP:0000689HP:0000689Dental malocclusion0AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000689HP:0000689Dental malocclusion0AMELX CL E G H265461OMIM:301200Amelogenesis imperfecta, type IE17
HP:0000689HP:0000689Dental malocclusion0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis.34
HP:0000689HP:0000689Dental malocclusion0ARHGAP29 CL E G H941130207ORPHA:199306Cleft lip/palateHP:0040283 - Occasional6
HP:0000689HP:0000689Dental malocclusion0ASPH CL E G H444757OMIM:601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs.4
HP:0000689HP:0000689Dental malocclusion0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndrome5
HP:0000689HP:0000689Dental malocclusion0ATR CL E G H545882OMIM:210600Seckel syndrome 1.168
HP:0000689HP:0000689Dental malocclusion0AXIN2 CL E G H8313904ORPHA:99798OligodontiaHP:0040282 - Frequent435
HP:0000689HP:0000689Dental malocclusion0BANF1 CL E G H881517397OMIM:614008Nestor-Guillermo progeria syndrome22
HP:0000689HP:0000689Dental malocclusion0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000689HP:0000689Dental malocclusion0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000689HP:0000689Dental malocclusion0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2.101
HP:0000689HP:0000689Dental malocclusion0BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies13
HP:0000689HP:0000689Dental malocclusion0BMP4 CL E G H6521071ORPHA:199306Cleft lip/palateHP:0040283 - Occasional38
HP:0000689HP:0000689Dental malocclusion0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1.276
HP:0000689HP:0000689Dental malocclusion0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1.276
HP:0000689HP:0000689Dental malocclusion0BRCA1 CL E G H6721100OMIM:617883Fanconi anemia, complementation group S.5769
HP:0000689HP:0000689Dental malocclusion0BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndromeHP:0040281 - Very frequent7
HP:0000689HP:0000689Dental malocclusion0BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome.7
HP:0000689HP:0000689Dental malocclusion0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000689HP:0000689Dental malocclusion0CA2 CL E G H7601373OMIM:259730Osteopetrosis, autosomal recessive 3.29
HP:0000689HP:0000689Dental malocclusion0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0000689HP:0000689Dental malocclusion0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0000689HP:0000689Dental malocclusion0CDH1 CL E G H9991748ORPHA:199306Cleft lip/palateHP:0040283 - Occasional1003
HP:0000689HP:0000689Dental malocclusion0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome.2
HP:0000689HP:0000689Dental malocclusion0CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.139
HP:0000689HP:0000689Dental malocclusion0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0000689HP:0000689Dental malocclusion0CLCN7 CL E G H11862025ORPHA:210110Intermediate osteopetrosisHP:0040284 - Very rare102
HP:0000689HP:0000689Dental malocclusion0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000689HP:0000689Dental malocclusion0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000689HP:0000689Dental malocclusion0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040283 - Occasional291
HP:0000689HP:0000689Dental malocclusion0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040283 - Occasional291
HP:0000689HP:0000689Dental malocclusion0CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0000689HP:0000689Dental malocclusion0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0000689HP:0000689Dental malocclusion0DLG1 CL E G H17392900ORPHA:199306Cleft lip/palateHP:0040283 - Occasional
HP:0000689HP:0000689Dental malocclusion0DLX4 CL E G H17482917ORPHA:199306Cleft lip/palateHP:0040283 - Occasional1
HP:0000689HP:0000689Dental malocclusion0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000689HP:0000689Dental malocclusion0DOCK3 CL E G H17952989OMIM:618292Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia3
HP:0000689HP:0000689Dental malocclusion0DPM2 CL E G H88183006ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsyHP:0040283 - Occasional26
HP:0000689HP:0000689Dental malocclusion0DSPP CL E G H18343054OMIM:125500Dentinogenesis imperfecta, shields type III38
HP:0000689HP:0000689Dental malocclusion0DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 2.14
HP:0000689HP:0000689Dental malocclusion0DVL3 CL E G H18573087OMIM:616894ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS35
HP:0000689HP:0000689Dental malocclusion0EDA CL E G H18963157ORPHA:99798OligodontiaHP:0040282 - Frequent115
HP:0000689HP:0000689Dental malocclusion0EDARADD CL E G H12817814341ORPHA:99798OligodontiaHP:0040282 - Frequent56
HP:0000689HP:0000689Dental malocclusion0EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndromeHP:0040282 - Frequent6
HP:0000689HP:0000689Dental malocclusion0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000689HP:0000689Dental malocclusion0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0000689HP:0000689Dental malocclusion0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0000689HP:0000689Dental malocclusion0ENAM CL E G H101173344OMIM:204650Amelogenesis imperfecta, type IC50
HP:0000689HP:0000689Dental malocclusion0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000689HP:0000689Dental malocclusion0EP300 CL E G H20333373OMIM:613684Rubinstein-Taybi syndrome 2.250
HP:0000689HP:0000689Dental malocclusion0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040283 - Occasional250
HP:0000689HP:0000689Dental malocclusion0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0000689HP:0000689Dental malocclusion0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0000689HP:0000689Dental malocclusion0FAM83H CL E G H28607724797OMIM:130900Amelogenesis imperfecta, type III.22
HP:0000689HP:0000689Dental malocclusion0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0000689HP:0000689Dental malocclusion0FGFR1 CL E G H22603688ORPHA:99798OligodontiaHP:0040282 - Frequent172
HP:0000689HP:0000689Dental malocclusion0FGFR2 CL E G H22633689OMIM:101200Apert syndrome.175
HP:0000689HP:0000689Dental malocclusion0FGFR3 CL E G H22613690OMIM:602849Muenke syndrome.145
HP:0000689HP:0000689Dental malocclusion0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000689HP:0000689Dental malocclusion0FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome.332
HP:0000689HP:0000689Dental malocclusion0FLNA CL E G H23163754OMIM:305620Frontometaphyseal dysplasia.493
HP:0000689HP:0000689Dental malocclusion0FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome.353
HP:0000689HP:0000689Dental malocclusion0FRAS1 CL E G H8014419185ORPHA:2052Fraser syndromeHP:0040282 - Frequent353
HP:0000689HP:0000689Dental malocclusion0FREM2 CL E G H34164025396ORPHA:2052Fraser syndromeHP:0040282 - Frequent263
HP:0000689HP:0000689Dental malocclusion0GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.128
HP:0000689HP:0000689Dental malocclusion0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive.68
HP:0000689HP:0000689Dental malocclusion0GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9173
HP:0000689HP:0000689Dental malocclusion0GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndromeHP:0040282 - Frequent2
HP:0000689HP:0000689Dental malocclusion0GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 1.2
HP:0000689HP:0000689Dental malocclusion0GNAS CL E G H27784392ORPHA:562McCune-Albright syndromeHP:0040283 - Occasional101
HP:0000689HP:0000689Dental malocclusion0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0000689HP:0000689Dental malocclusion0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0000689HP:0000689Dental malocclusion0GPR68 CL E G H81114519OMIM:617217AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A63
HP:0000689HP:0000689Dental malocclusion0GRHL3 CL E G H5782225839OMIM:606713Van der woude syndrome 212
HP:0000689HP:0000689Dental malocclusion0GRIP1 CL E G H2342618708ORPHA:2052Fraser syndromeHP:0040282 - Frequent80
HP:0000689HP:0000689Dental malocclusion0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000689HP:0000689Dental malocclusion0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000689HP:0000689Dental malocclusion0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000689HP:0000689Dental malocclusion0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040282 - Frequent8
HP:0000689HP:0000689Dental malocclusion0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040282 - Frequent8
HP:0000689HP:0000689Dental malocclusion0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040283 - Occasional345
HP:0000689HP:0000689Dental malocclusion0IL11RA CL E G H35905967OMIM:614188Craniosynostosis and dental anomalies8
HP:0000689HP:0000689Dental malocclusion0IRF6 CL E G H36646121ORPHA:199306Cleft lip/palateHP:0040283 - Occasional99
HP:0000689HP:0000689Dental malocclusion0IRF6 CL E G H36646121ORPHA:99798OligodontiaHP:0040282 - Frequent99
HP:0000689HP:0000689Dental malocclusion0IRX5 CL E G H1026514361OMIM:611174Hamamy syndromeHP:0040283 - Occasional4
HP:0000689HP:0000689Dental malocclusion0ITGB6 CL E G H36946161OMIM:616221AMELOGENESIS IMPERFECTA, TYPE IH; AI1H8
HP:0000689HP:0000689Dental malocclusion0KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndrome13
HP:0000689HP:0000689Dental malocclusion0KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndrome7
HP:0000689HP:0000689Dental malocclusion0KDM6A CL E G H740312637OMIM:300867Kabuki syndrome 253
HP:0000689HP:0000689Dental malocclusion0KLK4 CL E G H96226365OMIM:204700Amelogenesis imperfecta, hypomaturation type, iia16
HP:0000689HP:0000689Dental malocclusion0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000689HP:0000689Dental malocclusion0LRP5 CL E G H40416697OMIM:144750Hyperostosis, endosteal.125
HP:0000689HP:0000689Dental malocclusion0LRP6 CL E G H40406698ORPHA:99798OligodontiaHP:0040282 - Frequent26
HP:0000689HP:0000689Dental malocclusion0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1.134
HP:0000689HP:0000689Dental malocclusion0MARS1 CL E G H41416898OMIM:619692TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0000689HP:0000689Dental malocclusion0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0000689HP:0000689Dental malocclusion0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000689HP:0000689Dental malocclusion0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000689HP:0000689Dental malocclusion0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0000689HP:0000689Dental malocclusion0MMP20 CL E G H93137167OMIM:612529Amelogenesis imperfecta, hypomaturation type, iia237
HP:0000689HP:0000689Dental malocclusion0MSX1 CL E G H44877391ORPHA:199306Cleft lip/palateHP:0040283 - Occasional12
HP:0000689HP:0000689Dental malocclusion0MSX1 CL E G H44877391ORPHA:99798OligodontiaHP:0040282 - Frequent12
HP:0000689HP:0000689Dental malocclusion0MTM1 CL E G H45347448OMIM:310400Myopathy, centronuclear, X-linked185
HP:0000689HP:0000689Dental malocclusion0MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000689HP:0000689Dental malocclusion0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0000689HP:0000689Dental malocclusion0NECTIN1 CL E G H58189706ORPHA:199306Cleft lip/palateHP:0040283 - Occasional4
HP:0000689HP:0000689Dental malocclusion0NOTCH2 CL E G H48537882OMIM:102500Hajdu-Cheney syndrome.138
HP:0000689HP:0000689Dental malocclusion0OBSL1 CL E G H2336329092OMIM:6129213-M syndrome 2.143
HP:0000689HP:0000689Dental malocclusion0PAX1 CL E G H50758615OMIM:615560Otofaciocervical syndrome 2HP:0040283 - Occasional3
HP:0000689HP:0000689Dental malocclusion0PAX9 CL E G H50838623ORPHA:99798OligodontiaHP:0040282 - Frequent58
HP:0000689HP:0000689Dental malocclusion0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0000689HP:0000689Dental malocclusion0PCYT1A CL E G H51308754OMIM:608940Spondylometaphyseal dysplasia with cone-rod dystrophy.11
HP:0000689HP:0000689Dental malocclusion0PDGFRA CL E G H51568803ORPHA:199306Cleft lip/palateHP:0040283 - Occasional337
HP:0000689HP:0000689Dental malocclusion0PIK3R1 CL E G H52958979OMIM:269880Short syndrome.43
HP:0000689HP:0000689Dental malocclusion0PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndromeHP:0040282 - Frequent82
HP:0000689HP:0000689Dental malocclusion0PLCB4 CL E G H53329059OMIM:614669Auriculocondylar syndrome 2.82
HP:0000689HP:0000689Dental malocclusion0PLEKHM1 CL E G H984229017ORPHA:210110Intermediate osteopetrosisHP:0040284 - Very rare2
HP:0000689HP:0000689Dental malocclusion0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0000689HP:0000689Dental malocclusion0PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance.134
HP:0000689HP:0000689Dental malocclusion0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1.291
HP:0000689HP:0000689Dental malocclusion0PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0000689HP:0000689Dental malocclusion0RDH11 CL E G H5110917964OMIM:616108Retinal dystrophy, juvenile cataracts, and short stature syndrome.2
HP:0000689HP:0000689Dental malocclusion0RDH11 CL E G H5110917964ORPHA:436245Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndromeHP:0040282 - Frequent2
HP:0000689HP:0000689Dental malocclusion0RELT CL E G H8495713764OMIM:618386Amelogenesis imperfecta, type IIIC
HP:0000689HP:0000689Dental malocclusion0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000689HP:0000689Dental malocclusion0RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:0000689HP:0000689Dental malocclusion0RPS6KA3 CL E G H619710432OMIM:303600Coffin-Lowry syndrome.65
HP:0000689HP:0000689Dental malocclusion0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040283 - Occasional34
HP:0000689HP:0000689Dental malocclusion0SH3BP2 CL E G H645210825OMIM:118400Cherubism177
HP:0000689HP:0000689Dental malocclusion0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome.134
HP:0000689HP:0000689Dental malocclusion0SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.3HP:0040283 - Occasional53
HP:0000689HP:0000689Dental malocclusion0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0000689HP:0000689Dental malocclusion0SKI CL E G H649710896OMIM:182212Shprintzen-Goldberg craniosynostosis syndrome.150
HP:0000689HP:0000689Dental malocclusion0SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 3.24
HP:0000689HP:0000689Dental malocclusion0SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndromeHP:0040282 - Frequent260
HP:0000689HP:0000689Dental malocclusion0SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0000689HP:0000689Dental malocclusion0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0000689HP:0000689Dental malocclusion0SMCHD1 CL E G H2334729090OMIM:603457Bosma arhinia microphthalmia syndrome174
HP:0000689HP:0000689Dental malocclusion0SOS1 CL E G H665411187OMIM:610733Noonan syndrome 4.315
HP:0000689HP:0000689Dental malocclusion0SOST CL E G H5096413771OMIM:269500Sclerosteosis 1.26
HP:0000689HP:0000689Dental malocclusion0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000689HP:0000689Dental malocclusion0SUMO1 CL E G H734112502ORPHA:99798OligodontiaHP:0040282 - Frequent8
HP:0000689HP:0000689Dental malocclusion0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000689HP:0000689Dental malocclusion0TCF12 CL E G H693811623OMIM:615314Craniosynostosis 328
HP:0000689HP:0000689Dental malocclusion0TCIRG1 CL E G H1031211647ORPHA:210110Intermediate osteopetrosisHP:0040284 - Very rare82
HP:0000689HP:0000689Dental malocclusion0TGFA CL E G H703911765ORPHA:99798OligodontiaHP:0040282 - Frequent
HP:0000689HP:0000689Dental malocclusion0THOC6 CL E G H7922828369OMIM:613680Beaulieu-Boycott-Innes syndrome.1
HP:0000689HP:0000689Dental malocclusion0THOC6 CL E G H7922828369ORPHA:363444THOC6-related developmental delay-microcephaly-facial dysmorphism syndromeHP:0040283 - Occasional1
HP:0000689HP:0000689Dental malocclusion0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000689HP:0000689Dental malocclusion0TP63 CL E G H862615979ORPHA:199306Cleft lip/palateHP:0040283 - Occasional140
HP:0000689HP:0000689Dental malocclusion0TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism78
HP:0000689HP:0000689Dental malocclusion0TRPS1 CL E G H722712340OMIM:190350Trichorhinophalangeal syndrome, type I.171
HP:0000689HP:0000689Dental malocclusion0TSPAN7 CL E G H710211854OMIM:300210MENTAL RETARDATION, X-LINKED 58; MRX5826
HP:0000689HP:0000689Dental malocclusion0TTI2 CL E G H8018526262OMIM:615541Mental retardation, autosomal recessive 3911
HP:0000689HP:0000689Dental malocclusion0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0000689HP:0000689Dental malocclusion0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000689HP:0000689Dental malocclusion0WNT10A CL E G H8032613829ORPHA:99798OligodontiaHP:0040282 - Frequent71
HP:0000689HP:0000689Dental malocclusion0WNT10B CL E G H748012775ORPHA:99798OligodontiaHP:0040282 - Frequent4
HP:0000689HP:0009102Anterior open-bite malocclusion1AMELX CL E G H265461OMIM:301200Amelogenesis imperfecta, type IE.17
HP:0000689HP:0009102Anterior open-bite malocclusion1ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040282 - Frequent5
HP:0000689HP:0009102Anterior open-bite malocclusion1BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies.13
HP:0000689HP:0009102Anterior open-bite malocclusion1DSPP CL E G H18343054OMIM:125500Dentinogenesis imperfecta, shields type III38
HP:0000689HP:0009102Anterior open-bite malocclusion1ENAM CL E G H101173344OMIM:204650Amelogenesis imperfecta, type IC.50
HP:0000689HP:0009102Anterior open-bite malocclusion1FAM83H CL E G H28607724797OMIM:130900Amelogenesis imperfecta, type III.22
HP:0000689HP:0009102Anterior open-bite malocclusion1GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 1.2
HP:0000689HP:0009102Anterior open-bite malocclusion1GPR68 CL E G H81114519OMIM:617217AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A63
HP:0000689HP:0009102Anterior open-bite malocclusion1ITGB6 CL E G H36946161OMIM:616221AMELOGENESIS IMPERFECTA, TYPE IH; AI1H8
HP:0000689HP:0009102Anterior open-bite malocclusion1KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndromeHP:0040282 - Frequent13
HP:0000689HP:0009102Anterior open-bite malocclusion1KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndromeHP:0040282 - Frequent7
HP:0000689HP:0009102Anterior open-bite malocclusion1KLK4 CL E G H96226365OMIM:204700Amelogenesis imperfecta, hypomaturation type, iia1HP:0040284 - Very rare6
HP:0000689HP:0009102Anterior open-bite malocclusion1MMP20 CL E G H93137167OMIM:612529Amelogenesis imperfecta, hypomaturation type, iia2HP:0040283 - Occasional37
HP:0000689HP:0009102Anterior open-bite malocclusion1RELT CL E G H8495713764OMIM:618386Amelogenesis imperfecta, type IIIC.


Genes (142) :ABCC9 ACP5 AGO2 AMELX AMER1 ARHGAP29 ASPH ATP6V1B2 ATR AXIN2 BANF1 BAZ1B BCL7B BCOR BMP2 BMP4 BRAF BRCA1 BRF1 BUD23 CA2 CDC42 CDH1 CDH11 CHRNE CHRNG CLCN7 CLIP2 CREBBP CTSK DCHS1 DLG1 DLX4 DNAJC30 DOCK3 DPM2 DSPP DVL1 DVL3 EDA EDARADD EDN1 EIF4H ELN ENAM EP300 ERCC6 ERCC8 FAM83H FAT4 FGFR1 FGFR2 FGFR3 FKBP6 FLCN FLNA FRAS1 FREM2 GFPT1 GJA1 GLI2 GNAI3 GNAS GPC3 GPC4 GPR68 GRHL3 GRIP1 GTF2I GTF2IRD1 GTF2IRD2 HNRNPK HSPG2 IL11RA IRF6 IRX5 ITGB6 KCNH1 KCNN3 KDM6A KLK4 LIMK1 LRP5 LRP6 MAP2K1 MARS1 MEGF8 METTL27 MLXIPL MMP20 MSX1 MTM1 MYOD1 NCF1 NECTIN1 NOTCH2 OBSL1 PAX1 PAX9 PCGF2 PCYT1A PDGFRA PIK3R1 PLCB4 PLEKHM1 PORCN PRKAR1A PTPN11 PYROXD1 RDH11 RELT RFC2 RHOA RPS6KA3 SATB2 SH3BP2 SH3PXD2B SHANK3 SKI SLC39A13 SMAD3 SMARCA2 SMCHD1 SOS1 SOST STX1A SUMO1 TBL2 TCF12 TCIRG1 TGFA THOC6 TMEM270 TP63 TRIM37 TRPS1 TSPAN7 TTI2 TWIST2 VPS37D WNT10A WNT10B

Diseases (108) :OMIM:619719 ORPHA:1855 OMIM:619149 OMIM:301200 OMIM:300373 ORPHA:199306 OMIM:601552 ORPHA:3473 OMIM:210600 ORPHA:99798 OMIM:614008 ORPHA:904 OMIM:300166 OMIM:617877 OMIM:115150 OMIM:163950 OMIM:617883 ORPHA:444072 OMIM:616202 OMIM:259730 ORPHA:487796 OMIM:616737 OMIM:211380 OMIM:608931 OMIM:265000 ORPHA:210110 OMIM:180849 ORPHA:353281 ORPHA:353277 ORPHA:763 OMIM:601390 OMIM:618292 ORPHA:329178 OMIM:125500 OMIM:616331 OMIM:616894 ORPHA:137888 OMIM:194050 OMIM:204650 OMIM:613684 ORPHA:353284 OMIM:133540 OMIM:216400 OMIM:130900 OMIM:615546 OMIM:101200 OMIM:602849 OMIM:610883 OMIM:305620 OMIM:219000 ORPHA:2052 OMIM:257850 OMIM:610829 OMIM:602483 ORPHA:562 OMIM:312870 OMIM:617217 OMIM:606713 ORPHA:352665 ORPHA:453504 ORPHA:800 OMIM:614188 OMIM:611174 OMIM:616221 OMIM:300867 OMIM:204700 OMIM:144750 OMIM:619692 OMIM:614976 OMIM:612529 OMIM:310400 OMIM:618975 OMIM:102500 OMIM:612921 OMIM:615560 OMIM:618371 OMIM:608940 OMIM:269880 OMIM:614669 OMIM:305600 OMIM:101800 OMIM:617258 OMIM:616108 ORPHA:436245 OMIM:618386 OMIM:618727 OMIM:303600 ORPHA:251028 OMIM:118400 OMIM:249420 ORPHA:48652 OMIM:606232 OMIM:182212 OMIM:612350 ORPHA:284984 OMIM:613795 OMIM:619293 OMIM:603457 OMIM:610733 OMIM:269500 OMIM:615314 OMIM:613680 ORPHA:363444 OMIM:253250 OMIM:190350 OMIM:300210 OMIM:615541 OMIM:209885
 

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