Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the dentition (HP:0000164)help
Parent Node:
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Misalignment of teeth (HP:0000692)help
..Starting node
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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
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
..expandIrregularly spaced teeth (HP:0006316) help
..expandMisalignment of incisors (HP:0011062) help
..expandOpen bite (HP:0010807) help
..expandOverbite (HP:0011094) help
..expandOverjet (HP:0011095) help
..expandWidely spaced teeth (HP:0000687) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000689HP:0000689Dental malocclusion0AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM14121926837300647
HP:0000689HP:0000689Dental malocclusion0ANKRD55 CL E G H7972285408ORPHA12025681615189
HP:0000689HP:0000689Dental malocclusion0ASPH CL E G H444601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs601552C1832167OMIM1449757600582
HP:0000689HP:0000689Dental malocclusion0ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM134404882601215
HP:0000689HP:0000689Dental malocclusion0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA15187961605681
HP:0000689HP:0000689Dental malocclusion0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM15541520893300485
HP:0000689HP:0000689Dental malocclusion0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1684901097164757
HP:0000689HP:0000689Dental malocclusion0BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM1684901097164757
HP:0000689HP:0000689Dental malocclusion0BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM12824114981100113705
HP:0000689HP:0000689Dental malocclusion0BRF1 CL E G H2972616202Cerebellofaciodental syndrome616202C4015495OMIM11712311551604902
HP:0000689HP:0000689Dental malocclusion0CA2 CL E G H7602785ORPHA131761373611492
HP:0000689HP:0000689Dental malocclusion0CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM131761373611492
HP:0000689HP:0000689Dental malocclusion0CD247 CL E G H91985408ORPHA16691677186780
HP:0000689HP:0000689Dental malocclusion0CDH11 CL E G H1009211380Brachioskeletogenital syndrome211380C0809936OMIM110401750600023
HP:0000689HP:0000689Dental malocclusion0CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM11383871966100725
HP:0000689HP:0000689Dental malocclusion0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA111742586603432
HP:0000689HP:0000689Dental malocclusion0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0000689HP:0000689Dental malocclusion0DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0000689HP:0000689Dental malocclusion0DVL1 CL E G H1855616331Robinow syndrome, autosomal dominant 2616331C4225363OMIM1192443084601365
HP:0000689HP:0000689Dental malocclusion0EDN1 CL E G H1906137888ORPHA111433176131240
HP:0000689HP:0000689Dental malocclusion0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA11275233327130160
HP:0000689HP:0000689Dental malocclusion0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM11275233327130160
HP:0000689HP:0000689Dental malocclusion0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0000689HP:0000689Dental malocclusion0EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM11074153373602700
HP:0000689HP:0000689Dental malocclusion0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11404993438609413
HP:0000689HP:0000689Dental malocclusion0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM1701993439609412
HP:0000689HP:0000689Dental malocclusion0FAM83H CL E G H286077130900Amelogenesis imperfecta, hypocalcification type130900C0399376OMIM13411824797611927
HP:0000689HP:0000689Dental malocclusion0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0000689HP:0000689Dental malocclusion0FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM11593363689176943
HP:0000689HP:0000689Dental malocclusion0FGFR3 CL E G H226115Antisocial personality disorderORPHA1774313690134934
HP:0000689HP:0000689Dental malocclusion0FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM1774313690134934
HP:0000689HP:0000689Dental malocclusion0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1215103627310607273
HP:0000689HP:0000689Dental malocclusion0FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM127114723754300017
HP:0000689HP:0000689Dental malocclusion0FRAS1 CL E G H801442052ORPHA16167519185607830
HP:0000689HP:0000689Dental malocclusion0FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM16167519185607830
HP:0000689HP:0000689Dental malocclusion0FREM2 CL E G H3416402052ORPHA12551025396608945
HP:0000689HP:0000689Dental malocclusion0GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM1502924241138292
HP:0000689HP:0000689Dental malocclusion0GJA1 CL E G H2697257850Oculodentodigital dysplasia, autosomal recessive257850C2749477OMIM11091414274121014
HP:0000689HP:0000689Dental malocclusion0GLI2 CL E G H2736610829Holoprosencephaly 9610829C1835819OMIM1883724318165230
HP:0000689HP:0000689Dental malocclusion0GNAI3 CL E G H2773137888ORPHA112244387139370
HP:0000689HP:0000689Dental malocclusion0GNAI3 CL E G H2773602483Auriculocondylar syndrome 1602483C1865295OMIM112244387139370
HP:0000689HP:0000689Dental malocclusion0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM1985264451300037
HP:0000689HP:0000689Dental malocclusion0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM151964452300168
HP:0000689HP:0000689Dental malocclusion0GRIP1 CL E G H234262052ORPHA11815918708604597
HP:0000689HP:0000689Dental malocclusion0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA111574659601679
HP:0000689HP:0000689Dental malocclusion0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA162064661604318
HP:0000689HP:0000689Dental malocclusion0IL2RA CL E G H355985408ORPHA1191766008147730
HP:0000689HP:0000689Dental malocclusion0IL2RB CL E G H356085408ORPHA12436009146710
HP:0000689HP:0000689Dental malocclusion0KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM18131112637300128
HP:0000689HP:0000689Dental malocclusion0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA171936613601329
HP:0000689HP:0000689Dental malocclusion0LRP5 CL E G H4041144750Worth disease144750C0432273OMIM12214116697603506
HP:0000689HP:0000689Dental malocclusion0MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM1232136840176872
HP:0000689HP:0000689Dental malocclusion0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM1619712744605678
HP:0000689HP:0000689Dental malocclusion0NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM1813947882600275
HP:0000689HP:0000689Dental malocclusion0OBSL1 CL E G H23363612921Three M syndrome 2612921C2752041OMIM13533129092610991
HP:0000689HP:0000689Dental malocclusion0PCYT1A CL E G H5130608940Spondylometaphyseal dysplasia with cone-rod dystrophy608940C1837073OMIM1201438754123695
HP:0000689HP:0000689Dental malocclusion0PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM1291568979171833
HP:0000689HP:0000689Dental malocclusion0PLCB4 CL E G H5332137888ORPHA1151659059600810
HP:0000689HP:0000689Dental malocclusion0PLCB4 CL E G H5332614669Auriculocondylar syndrome 2614669C3553404OMIM1151659059600810
HP:0000689HP:0000689Dental malocclusion0PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM112121017652300651
HP:0000689HP:0000689Dental malocclusion0PRKAR1A CL E G H5573101800Acrodysostosis 1 with or without hormone resistance101800C3276228OMIM11884519388188830
HP:0000689HP:0000689Dental malocclusion0PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM11434759644176876
HP:0000689HP:0000689Dental malocclusion0PTPN2 CL E G H577185408ORPHA12789650176887
HP:0000689HP:0000689Dental malocclusion0PTPN22 CL E G H2619185408ORPHA114289652600716
HP:0000689HP:0000689Dental malocclusion0RDH11 CL E G H51109616108Retinal dystrophy, juvenile cataracts, and short stature syndrome616108C4015242OMIM134417964607849
HP:0000689HP:0000689Dental malocclusion0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA141739970600404
HP:0000689HP:0000689Dental malocclusion0RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM117130910432300075
HP:0000689HP:0000689Dental malocclusion0SH3PXD2B CL E G H285590249420Frank Ter Haar syndrome249420C1855305OMIM12026629242613293
HP:0000689HP:0000689Dental malocclusion0SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM119436614294606230
HP:0000689HP:0000689Dental malocclusion0SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM12450210896164780
HP:0000689HP:0000689Dental malocclusion0SLC39A13 CL E G H91252612350Spondylocheirodysplasia, Ehlers-Danlos syndrome-like612350C2676510OMIM1910420859608735
HP:0000689HP:0000689Dental malocclusion0SMAD3 CL E G H4088284984ORPHA1955926769603109
HP:0000689HP:0000689Dental malocclusion0SOS1 CL E G H6654610733Noonan syndrome 4610733C1853120OMIM17566511187182530
HP:0000689HP:0000689Dental malocclusion0SOST CL E G H50964269500Sclerosteosis 1269500CN032489OMIM1177013771605740
HP:0000689HP:0000689Dental malocclusion0STAT4 CL E G H677585408ORPHA165011365600558
HP:0000689HP:0000689Dental malocclusion0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA115911586605842
HP:0000689HP:0000689Dental malocclusion0THOC6 CL E G H79228613680Beaulieu-Boycott-Innes syndrome613680C3150939OMIM196728369615403
HP:0000689HP:0000689Dental malocclusion0TRPS1 CL E G H7227190350Trichorhinophalangeal dysplasia type I190350C0432233OMIM114222112340604386
HP:0000689HP:0000689Dental malocclusion1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM14121926837300647
HP:0000689HP:0000689Dental malocclusion1ANKRD55 CL E G H7972285408ORPHA12025681615189
HP:0000689HP:0000689Dental malocclusion1ASPH CL E G H444601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs601552C1832167OMIM1449757600582
HP:0000689HP:0000689Dental malocclusion1ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM134404882601215
HP:0000689HP:0000689Dental malocclusion1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA15187961605681
HP:0000689HP:0000689Dental malocclusion1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM15541520893300485
HP:0000689HP:0000689Dental malocclusion1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1684901097164757
HP:0000689HP:0000689Dental malocclusion1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM1684901097164757
HP:0000689HP:0000689Dental malocclusion1BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM12824114981100113705
HP:0000689HP:0000689Dental malocclusion1BRF1 CL E G H2972616202Cerebellofaciodental syndrome616202C4015495OMIM11712311551604902
HP:0000689HP:0000689Dental malocclusion1CA2 CL E G H7602785ORPHA131761373611492
HP:0000689HP:0000689Dental malocclusion1CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM131761373611492
HP:0000689HP:0000689Dental malocclusion1CD247 CL E G H91985408ORPHA16691677186780
HP:0000689HP:0000689Dental malocclusion1CDH11 CL E G H1009211380Brachioskeletogenital syndrome211380C0809936OMIM110401750600023
HP:0000689HP:0000689Dental malocclusion1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM11383871966100725
HP:0000689HP:0000689Dental malocclusion1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA111742586603432
HP:0000689HP:0000689Dental malocclusion1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0000689HP:0000689Dental malocclusion1DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0000689HP:0000689Dental malocclusion1DVL1 CL E G H1855616331Robinow syndrome, autosomal dominant 2616331C4225363OMIM1192443084601365
HP:0000689HP:0000689Dental malocclusion1EDN1 CL E G H1906137888ORPHA111433176131240
HP:0000689HP:0000689Dental malocclusion1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA11275233327130160
HP:0000689HP:0000689Dental malocclusion1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM11275233327130160
HP:0000689HP:0000689Dental malocclusion1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0000689HP:0000689Dental malocclusion1EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM11074153373602700
HP:0000689HP:0000689Dental malocclusion1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11404993438609413
HP:0000689HP:0000689Dental malocclusion1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM1701993439609412
HP:0000689HP:0000689Dental malocclusion1FAM83H CL E G H286077130900Amelogenesis imperfecta, hypocalcification type130900C0399376OMIM13411824797611927
HP:0000689HP:0000689Dental malocclusion1FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0000689HP:0000689Dental malocclusion1FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM11593363689176943
HP:0000689HP:0000689Dental malocclusion1FGFR3 CL E G H226115Antisocial personality disorderORPHA1774313690134934
HP:0000689HP:0000689Dental malocclusion1FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM1774313690134934
HP:0000689HP:0000689Dental malocclusion1FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1215103627310607273
HP:0000689HP:0000689Dental malocclusion1FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM127114723754300017
HP:0000689HP:0000689Dental malocclusion1FRAS1 CL E G H801442052ORPHA16167519185607830
HP:0000689HP:0000689Dental malocclusion1FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM16167519185607830
HP:0000689HP:0000689Dental malocclusion1FREM2 CL E G H3416402052ORPHA12551025396608945
HP:0000689HP:0000689Dental malocclusion1GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM1502924241138292
HP:0000689HP:0000689Dental malocclusion1GJA1 CL E G H2697257850Oculodentodigital dysplasia, autosomal recessive257850C2749477OMIM11091414274121014
HP:0000689HP:0000689Dental malocclusion1GLI2 CL E G H2736610829Holoprosencephaly 9610829C1835819OMIM1883724318165230
HP:0000689HP:0000689Dental malocclusion1GNAI3 CL E G H2773137888ORPHA112244387139370
HP:0000689HP:0000689Dental malocclusion1GNAI3 CL E G H2773602483Auriculocondylar syndrome 1602483C1865295OMIM112244387139370
HP:0000689HP:0000689Dental malocclusion1GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM1985264451300037
HP:0000689HP:0000689Dental malocclusion1GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM151964452300168
HP:0000689HP:0000689Dental malocclusion1GRIP1 CL E G H234262052ORPHA11815918708604597
HP:0000689HP:0000689Dental malocclusion1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA111574659601679
HP:0000689HP:0000689Dental malocclusion1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA162064661604318
HP:0000689HP:0000689Dental malocclusion1IL2RA CL E G H355985408ORPHA1191766008147730
HP:0000689HP:0000689Dental malocclusion1IL2RB CL E G H356085408ORPHA12436009146710
HP:0000689HP:0000689Dental malocclusion1KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM18131112637300128
HP:0000689HP:0000689Dental malocclusion1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA171936613601329
HP:0000689HP:0000689Dental malocclusion1LRP5 CL E G H4041144750Worth disease144750C0432273OMIM12214116697603506
HP:0000689HP:0000689Dental malocclusion1MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM1232136840176872
HP:0000689HP:0000689Dental malocclusion1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM1619712744605678
HP:0000689HP:0000689Dental malocclusion1NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM1813947882600275
HP:0000689HP:0000689Dental malocclusion1OBSL1 CL E G H23363612921Three M syndrome 2612921C2752041OMIM13533129092610991
HP:0000689HP:0000689Dental malocclusion1PCYT1A CL E G H5130608940Spondylometaphyseal dysplasia with cone-rod dystrophy608940C1837073OMIM1201438754123695
HP:0000689HP:0000689Dental malocclusion1PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM1291568979171833
HP:0000689HP:0000689Dental malocclusion1PLCB4 CL E G H5332137888ORPHA1151659059600810
HP:0000689HP:0000689Dental malocclusion1PLCB4 CL E G H5332614669Auriculocondylar syndrome 2614669C3553404OMIM1151659059600810
HP:0000689HP:0000689Dental malocclusion1PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM112121017652300651
HP:0000689HP:0000689Dental malocclusion1PRKAR1A CL E G H5573101800Acrodysostosis 1 with or without hormone resistance101800C3276228OMIM11884519388188830
HP:0000689HP:0000689Dental malocclusion1PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM11434759644176876
HP:0000689HP:0000689Dental malocclusion1PTPN2 CL E G H577185408ORPHA12789650176887
HP:0000689HP:0000689Dental malocclusion1PTPN22 CL E G H2619185408ORPHA114289652600716
HP:0000689HP:0000689Dental malocclusion1RDH11 CL E G H51109616108Retinal dystrophy, juvenile cataracts, and short stature syndrome616108C4015242OMIM134417964607849
HP:0000689HP:0000689Dental malocclusion1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA141739970600404
HP:0000689HP:0000689Dental malocclusion1RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM117130910432300075
HP:0000689HP:0000689Dental malocclusion1SH3PXD2B CL E G H285590249420Frank Ter Haar syndrome249420C1855305OMIM12026629242613293
HP:0000689HP:0000689Dental malocclusion1SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM119436614294606230
HP:0000689HP:0000689Dental malocclusion1SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM12450210896164780
HP:0000689HP:0000689Dental malocclusion1SLC39A13 CL E G H91252612350Spondylocheirodysplasia, Ehlers-Danlos syndrome-like612350C2676510OMIM1910420859608735
HP:0000689HP:0000689Dental malocclusion1SMAD3 CL E G H4088284984ORPHA1955926769603109
HP:0000689HP:0000689Dental malocclusion1SOS1 CL E G H6654610733Noonan syndrome 4610733C1853120OMIM17566511187182530
HP:0000689HP:0000689Dental malocclusion1SOST CL E G H50964269500Sclerosteosis 1269500CN032489OMIM1177013771605740
HP:0000689HP:0000689Dental malocclusion1STAT4 CL E G H677585408ORPHA165011365600558
HP:0000689HP:0000689Dental malocclusion1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA115911586605842
HP:0000689HP:0000689Dental malocclusion1THOC6 CL E G H79228613680Beaulieu-Boycott-Innes syndrome613680C3150939OMIM196728369615403
HP:0000689HP:0000689Dental malocclusion1TRPS1 CL E G H7227190350Trichorhinophalangeal dysplasia type I190350C0432233OMIM114222112340604386
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000689HP:0000689Dental malocclusion0CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM011331736116952
HP:0000689HP:0000689Dental malocclusion0COL1A1 CL E G H1277287ORPHA096711052197120150
HP:0000689HP:0000689Dental malocclusion0COL5A1 CL E G H1289287ORPHA015916302209120215
HP:0000689HP:0000689Dental malocclusion0COL5A2 CL E G H1290287ORPHA0397932210120190
HP:0000689HP:0000689Dental malocclusion0DVL3 CL E G H1857616894Robinow syndrome, autosomal dominant 3616894C4225164OMIM015773087601368
HP:0000689HP:0000689Dental malocclusion0HSPG2 CL E G H3339800ORPHA0678625273142461
HP:0000689HP:0000689Dental malocclusion0IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM064014361606195
HP:0000689HP:0000689Dental malocclusion0PAX1 CL E G H5075615560Otofaciocervical syndrome 2615560C3714942OMIM010528615167411
HP:0000689HP:0000689Dental malocclusion0SHANK3 CL E G H8535848652ORPHA019436614294606230
HP:0000689HP:0000689Dental malocclusion0SMAD3 CL E G H4088613795Loeys-Dietz syndrome 3613795C3151087OMIM0955926769603109
HP:0000689HP:0000689Dental malocclusion0SMCHD1 CL E G H23347603457Arhinia choanal atresia microphthalmia603457C1863878OMIM012550029090614982
HP:0000689HP:0000689Dental malocclusion1CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM011331736116952
HP:0000689HP:0000689Dental malocclusion1COL1A1 CL E G H1277287ORPHA096711052197120150
HP:0000689HP:0000689Dental malocclusion1COL5A1 CL E G H1289287ORPHA015916302209120215
HP:0000689HP:0000689Dental malocclusion1COL5A2 CL E G H1290287ORPHA0397932210120190
HP:0000689HP:0000689Dental malocclusion1DVL3 CL E G H1857616894Robinow syndrome, autosomal dominant 3616894C4225164OMIM015773087601368
HP:0000689HP:0000689Dental malocclusion1HSPG2 CL E G H3339800ORPHA0678625273142461
HP:0000689HP:0000689Dental malocclusion1IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM064014361606195
HP:0000689HP:0000689Dental malocclusion1PAX1 CL E G H5075615560Otofaciocervical syndrome 2615560C3714942OMIM010528615167411
HP:0000689HP:0000689Dental malocclusion1SHANK3 CL E G H8535848652ORPHA019436614294606230
HP:0000689HP:0000689Dental malocclusion1SMAD3 CL E G H4088613795Loeys-Dietz syndrome 3613795C3151087OMIM0955926769603109
HP:0000689HP:0000689Dental malocclusion1SMCHD1 CL E G H23347603457Arhinia choanal atresia microphthalmia603457C1863878OMIM012550029090614982


Genes (84) :AMER1 ANKRD55 ASPH ATP6V1B2 ATR BAZ1B BCOR BRAF BRCA1 BRF1 CA2 CD247 CDC42 CDH11 CHRNE CLIP2 COL1A1 COL5A1 COL5A2 CREBBP DCHS1 DVL1 DVL3 EDN1 ELN ENAM EP300 ERCC6 ERCC8 FAM83H FAT4 FGFR2 FGFR3 FLCN FLNA FRAS1 FREM2 GFPT1 GJA1 GLI2 GNAI3 GPC3 GPC4 GRIP1 GTF2I GTF2IRD1 HSPG2 IL2RA IL2RB IRX5 ITGB6 KCNH1 KDM6A KLK4 LIMK1 LRP5 MAP2K1 MLXIPL NOTCH2 OBSL1 PAX1 PCYT1A PIK3R1 PLCB4 PORCN PRKAR1A PTPN11 PTPN2 PTPN22 RDH11 RFC2 RPS6KA3 SH3PXD2B SHANK3 SKI SLC39A13 SMAD3 SMCHD1 SOS1 SOST STAT4 TBL2 THOC6 TRPS1

Diseases (68) :300373 85408 601552 210600 904 300166 115150 163950 617883 616202 2785 259730 616737 211380 608931 287 180849 601390 616331 616894 137888 194050 613684 133540 216400 130900 615546 101200 15 602849 610883 305620 2052 219000 257850 610829 602483 312870 800 611174 300867 144750 102500 612921 615560 608940 269880 614669 305600 101800 616108 303600 249420 48652 606232 182212 612350 284984 613795 603457 610733 269500 613680 190350 3473 204650 616221 204700
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.