Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the vertebral column (HP:0000925)help
Parent Node:
expand
Abnormality of the curvature of the vertebral column (HP:0010674)help
..Starting node
..expand
Scoliosis (HP:0002650)help
Term ID: 2650
Name: Scoliosis
Synonym:
Definition: The presence of an abnormal lateral curvature of the spine.
Comments:
Reference: HP:0002650
Genes and Diseases:
 
       Child Nodes:
........expandKyphoscoliosis (HP:0002751) help
................... HP:0003423 Thoracolumbar kyphoscoliosis
................... HP:0004619 Lumbar kyphoscoliosis
................... HP:0008453 Congenital kyphoscoliosis
........expandThoracic scoliosis (HP:0002943) help
................... HP:0005659 Thoracic kyphoscoliosis
........expandThoracolumbar scoliosis (HP:0002944) help
................... HP:0003423 Thoracolumbar kyphoscoliosis
................... HP:0004626 Lumbar scoliosis
........expandProgressive congenital scoliosis (HP:0008458) help
........expandCompensatory scoliosis (HP:0100884) help

 Sister Nodes: 
..expandAbnormal cervical curvature (HP:0005905) help
..expandAbnormally straight spine (HP:0100795) help
..expandCamptocormia (HP:0100595) help
..expandHyperlordosis (HP:0003307) help
..expandKyphosis (HP:0002808) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002650HP:0002650Scoliosis0A2ML1 CL E G H144568648ORPHA178923336610627
HP:0002650HP:0002650Scoliosis0A2ML1 CL E G H144568648ORPHA191623336610627
HP:0002650HP:0002650Scoliosis0ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM191457603234
HP:0002650HP:0002650Scoliosis0ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1113757603234
HP:0002650HP:0002650Scoliosis0ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM126290606885
HP:0002650HP:0002650Scoliosis0ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM129490606885
HP:0002650HP:0002650Scoliosis0ACTA1 CL E G H5897244ORPHA1325129102610
HP:0002650HP:0002650Scoliosis0ACTA1 CL E G H5897244ORPHA1362129102610
HP:0002650HP:0002650Scoliosis0ACTA1 CL E G H58616852Myopathy, scapulohumeroperoneal616852C4225181OMIM1325129102610
HP:0002650HP:0002650Scoliosis0ACTA1 CL E G H58616852Myopathy, scapulohumeroperoneal616852C4225181OMIM1362129102610
HP:0002650HP:0002650Scoliosis0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1325129102610
HP:0002650HP:0002650Scoliosis0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1362129102610
HP:0002650HP:0002650Scoliosis0ACTB CL E G H6079107ORPHA1322132102630
HP:0002650HP:0002650Scoliosis0ACTB CL E G H6079107ORPHA1349132102630
HP:0002650HP:0002650Scoliosis0ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1122171102576
HP:0002650HP:0002650Scoliosis0ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1141171102576
HP:0002650HP:0002650Scoliosis0ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM124113201608990
HP:0002650HP:0002650Scoliosis0ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM136313201608990
HP:0002650HP:0002650Scoliosis0ADAMTS2 CL E G H95091901ORPHA1920218604539
HP:0002650HP:0002650Scoliosis0ADAMTS2 CL E G H95091901ORPHA11000218604539
HP:0002650HP:0002650Scoliosis0AGA CL E G H17593ORPHA1330318613228
HP:0002650HP:0002650Scoliosis0AGA CL E G H17593ORPHA1355318613228
HP:0002650HP:0002650Scoliosis0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1330318613228
HP:0002650HP:0002650Scoliosis0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1355318613228
HP:0002650HP:0002650Scoliosis0AIFM1 CL E G H9131101078ORPHA14138768300169
HP:0002650HP:0002650Scoliosis0AIFM1 CL E G H9131101078ORPHA14508768300169
HP:0002650HP:0002650Scoliosis0AKT1 CL E G H207744Aortic valves stenosis of the childORPHA1380391164730
HP:0002650HP:0002650Scoliosis0AKT1 CL E G H207744Aortic valves stenosis of the childORPHA1417391164730
HP:0002650HP:0002650Scoliosis0AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1380391164730
HP:0002650HP:0002650Scoliosis0AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1417391164730
HP:0002650HP:0002650Scoliosis0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM13469722138250
HP:0002650HP:0002650Scoliosis0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM13929722138250
HP:0002650HP:0002650Scoliosis0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM12504428606844
HP:0002650HP:0002650Scoliosis0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13342428606844
HP:0002650HP:0002650Scoliosis0ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1524443606352
HP:0002650HP:0002650Scoliosis0ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1644443606352
HP:0002650HP:0002650Scoliosis0ALX3 CL E G H257391474ORPHA142449606014
HP:0002650HP:0002650Scoliosis0ALX3 CL E G H257391474ORPHA143449606014
HP:0002650HP:0002650Scoliosis0AMER1 CL E G H1392852780Hydronephrosis congenitalORPHA124526837300647
HP:0002650HP:0002650Scoliosis0AMER1 CL E G H1392852780Hydronephrosis congenitalORPHA126326837300647
HP:0002650HP:0002650Scoliosis0ANKRD11 CL E G H291232332ORPHA1110121316611192
HP:0002650HP:0002650Scoliosis0ANKRD11 CL E G H291232332ORPHA1118421316611192
HP:0002650HP:0002650Scoliosis0ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM18321014606410
HP:0002650HP:0002650Scoliosis0ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM18421014606410
HP:0002650HP:0002650Scoliosis0AP1S2 CL E G H890585335ORPHA1216560300629
HP:0002650HP:0002650Scoliosis0AP1S2 CL E G H890585335ORPHA1219560300629
HP:0002650HP:0002650Scoliosis0AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1216560300629
HP:0002650HP:0002650Scoliosis0AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1219560300629
HP:0002650HP:0002650Scoliosis0APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM123615984606350
HP:0002650HP:0002650Scoliosis0APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM125815984606350
HP:0002650HP:0002650Scoliosis0ARID1A CL E G H82891465ORPHA138311110603024
HP:0002650HP:0002650Scoliosis0ARID1A CL E G H82891465ORPHA144211110603024
HP:0002650HP:0002650Scoliosis0ARID1B CL E G H574921465ORPHA186618040614556
HP:0002650HP:0002650Scoliosis0ARID1B CL E G H574921465ORPHA195818040614556
HP:0002650HP:0002650Scoliosis0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM186618040614556
HP:0002650HP:0002650Scoliosis0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM195818040614556
HP:0002650HP:0002650Scoliosis0ARID2 CL E G H1965281465ORPHA117918037609539
HP:0002650HP:0002650Scoliosis0ARID2 CL E G H1965281465ORPHA118618037609539
HP:0002650HP:0002650Scoliosis0ARX CL E G H1703022508ORPHA156518060300382
HP:0002650HP:0002650Scoliosis0ARX CL E G H1703022508ORPHA162418060300382
HP:0002650HP:0002650Scoliosis0ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM156518060300382
HP:0002650HP:0002650Scoliosis0ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM162418060300382
HP:0002650HP:0002650Scoliosis0ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1420735613468
HP:0002650HP:0002650Scoliosis0ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1593735613468
HP:0002650HP:0002650Scoliosis0ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM111123805612991
HP:0002650HP:0002650Scoliosis0ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM117023805612991
HP:0002650HP:0002650Scoliosis0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM125025567612316
HP:0002650HP:0002650Scoliosis0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM126425567612316
HP:0002650HP:0002650Scoliosis0ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM131011231606439
HP:0002650HP:0002650Scoliosis0ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM135611231606439
HP:0002650HP:0002650Scoliosis0ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM141718481611716
HP:0002650HP:0002650Scoliosis0ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM145818481611716
HP:0002650HP:0002650Scoliosis0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM141718481611716
HP:0002650HP:0002650Scoliosis0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM145818481611716
HP:0002650HP:0002650Scoliosis0ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM1755882601215
HP:0002650HP:0002650Scoliosis0ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM11007882601215
HP:0002650HP:0002650Scoliosis0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM143914262607270
HP:0002650HP:0002650Scoliosis0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM145414262607270
HP:0002650HP:0002650Scoliosis0B3GALT6 CL E G H12679293359ORPHA128117978615291
HP:0002650HP:0002650Scoliosis0B3GALT6 CL E G H12679293359ORPHA133717978615291
HP:0002650HP:0002650Scoliosis0B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM189923606374
HP:0002650HP:0002650Scoliosis0B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1126923606374
HP:0002650HP:0002650Scoliosis0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM122620207610308
HP:0002650HP:0002650Scoliosis0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM124820207610308
HP:0002650HP:0002650Scoliosis0B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11484117601873
HP:0002650HP:0002650Scoliosis0B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11694117601873
HP:0002650HP:0002650Scoliosis0BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1603939603883
HP:0002650HP:0002650Scoliosis0BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1738939603883
HP:0002650HP:0002650Scoliosis0BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14417397603811
HP:0002650HP:0002650Scoliosis0BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14517397603811
HP:0002650HP:0002650Scoliosis0BICD2 CL E G H23299618291618291618291OMIM144517208609797
HP:0002650HP:0002650Scoliosis0BICD2 CL E G H23299618291618291618291OMIM150617208609797
HP:0002650HP:0002650Scoliosis0BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14311052601248
HP:0002650HP:0002650Scoliosis0BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14871052601248
HP:0002650HP:0002650Scoliosis0BPTF CL E G H2186529962ORPHA11293581601819
HP:0002650HP:0002650Scoliosis0BPTF CL E G H2186529962ORPHA11393581601819
HP:0002650HP:0002650Scoliosis0BRAF CL E G H673648ORPHA16181097164757
HP:0002650HP:0002650Scoliosis0BRAF CL E G H673648ORPHA16801097164757
HP:0002650HP:0002650Scoliosis0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16181097164757
HP:0002650HP:0002650Scoliosis0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16801097164757
HP:0002650HP:0002650Scoliosis0BRCA1 CL E G H67284ORPHA1122071100113705
HP:0002650HP:0002650Scoliosis0BRCA1 CL E G H67284ORPHA1125861100113705
HP:0002650HP:0002650Scoliosis0BRCA2 CL E G H67584ORPHA1139121101600185
HP:0002650HP:0002650Scoliosis0BRCA2 CL E G H67584ORPHA1147421101600185
HP:0002650HP:0002650Scoliosis0BRF1 CL E G H2972616202Cerebellofaciodental syndrome616202C4015495OMIM114211551604902
HP:0002650HP:0002650Scoliosis0BRF1 CL E G H2972616202Cerebellofaciodental syndrome616202C4015495OMIM115811551604902
HP:0002650HP:0002650Scoliosis0BRIP1 CL E G H8399084ORPHA1346420473605882
HP:0002650HP:0002650Scoliosis0BRIP1 CL E G H8399084ORPHA1377820473605882
HP:0002650HP:0002650Scoliosis0CANT1 CL E G H1245831425Cole-Carpenter syndromeC1862178ORPHA118519721613165
HP:0002650HP:0002650Scoliosis0CANT1 CL E G H1245831425Cole-Carpenter syndromeC1862178ORPHA121819721613165
HP:0002650HP:0002650Scoliosis0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM118519721613165
HP:0002650HP:0002650Scoliosis0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM121819721613165
HP:0002650HP:0002650Scoliosis0CANT1 CL E G H124583617719EPIPHYSEAL DYSPLASIA, MULTIPLE, 7617719C4540251OMIM118519721613165
HP:0002650HP:0002650Scoliosis0CANT1 CL E G H124583617719EPIPHYSEAL DYSPLASIA, MULTIPLE, 7617719C4540251OMIM121819721613165
HP:0002650HP:0002650Scoliosis0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0002650HP:0002650Scoliosis0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0002650HP:0002650Scoliosis0CBS CL E G H875394ORPHA17921550613381
HP:0002650HP:0002650Scoliosis0CBS CL E G H875394ORPHA18561550613381
HP:0002650HP:0002650Scoliosis0CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM17921550613381
HP:0002650HP:0002650Scoliosis0CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM18561550613381
HP:0002650HP:0002650Scoliosis0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM134929426612753
HP:0002650HP:0002650Scoliosis0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM141329426612753
HP:0002650HP:0002650Scoliosis0CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM124228909300859
HP:0002650HP:0002650Scoliosis0CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM125028909300859
HP:0002650HP:0002650Scoliosis0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA124228909300859
HP:0002650HP:0002650Scoliosis0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA125028909300859
HP:0002650HP:0002650Scoliosis0CCM2 CL E G H83605221061ORPHA119621708607929
HP:0002650HP:0002650Scoliosis0CCM2 CL E G H83605221061ORPHA122321708607929
HP:0002650HP:0002650Scoliosis0CCN6 CL E G H88381159ORPHA18612771603400
HP:0002650HP:0002650Scoliosis0CCN6 CL E G H88381159ORPHA18712771603400
HP:0002650HP:0002650Scoliosis0CD96 CL E G H10225211750C syndrome211750C0796095OMIM15616892606037
HP:0002650HP:0002650Scoliosis0CD96 CL E G H10225211750C syndrome211750C0796095OMIM16216892606037
HP:0002650HP:0002650Scoliosis0CDC45 CL E G H8318617063Meier-gorlin syndrome 7617063C4310738OMIM15001739603465
HP:0002650HP:0002650Scoliosis0CDC45 CL E G H8318617063Meier-gorlin syndrome 7617063C4310738OMIM15421739603465
HP:0002650HP:0002650Scoliosis0CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1127011411300203
HP:0002650HP:0002650Scoliosis0CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1139911411300203
HP:0002650HP:0002650Scoliosis0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1175220626608892
HP:0002650HP:0002650Scoliosis0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1198020626608892
HP:0002650HP:0002650Scoliosis0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13161955100690
HP:0002650HP:0002650Scoliosis0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13571955100690
HP:0002650HP:0002650Scoliosis0CHRNG CL E G H11462990ORPHA12061967100730
HP:0002650HP:0002650Scoliosis0CHRNG CL E G H11462990ORPHA12121967100730
HP:0002650HP:0002650Scoliosis0CHRNG CL E G H1146265000Multiple pterygium syndrome Escobar type265000C0265261OMIM12061967100730
HP:0002650HP:0002650Scoliosis0CHRNG CL E G H1146265000Multiple pterygium syndrome Escobar type265000C0265261OMIM12121967100730
HP:0002650HP:0002650Scoliosis0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM113524464608429
HP:0002650HP:0002650Scoliosis0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM116424464608429
HP:0002650HP:0002650Scoliosis0CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM12851971603799
HP:0002650HP:0002650Scoliosis0CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM13331971603799
HP:0002650HP:0002650Scoliosis0CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA12817412607672
HP:0002650HP:0002650Scoliosis0COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM11816545606973
HP:0002650HP:0002650Scoliosis0COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM12486545606973
HP:0002650HP:0002650Scoliosis0COL12A1 CL E G H130375840ORPHA113672188120320
HP:0002650HP:0002650Scoliosis0COL12A1 CL E G H130375840ORPHA116782188120320
HP:0002650HP:0002650Scoliosis0COL1A1 CL E G H1277287ORPHA113972197120150
HP:0002650HP:0002650Scoliosis0COL1A1 CL E G H1277287ORPHA116552197120150
HP:0002650HP:0002650Scoliosis0COL1A1 CL E G H12771899ORPHA113972197120150
HP:0002650HP:0002650Scoliosis0COL1A1 CL E G H12771899ORPHA116552197120150
HP:0002650HP:0002650Scoliosis0COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM113972197120150
HP:0002650HP:0002650Scoliosis0COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM116552197120150
HP:0002650HP:0002650Scoliosis0COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM113972197120150
HP:0002650HP:0002650Scoliosis0COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM116552197120150
HP:0002650HP:0002650Scoliosis0COL1A1 CL E G H1277166220Osteogenesis imperfecta with normal sclerae, dominant form166220C0268363OMIM113972197120150
HP:0002650HP:0002650Scoliosis0COL1A1 CL E G H1277166220Osteogenesis imperfecta with normal sclerae, dominant form166220C0268363OMIM116552197120150
HP:0002650HP:0002650Scoliosis0COL1A2 CL E G H12781899ORPHA110422198120160
HP:0002650HP:0002650Scoliosis0COL1A2 CL E G H12781899ORPHA112032198120160
HP:0002650HP:0002650Scoliosis0COL1A2 CL E G H1278617821EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2617821CN706304OMIM110422198120160
HP:0002650HP:0002650Scoliosis0COL1A2 CL E G H1278617821EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2617821CN706304OMIM112032198120160
HP:0002650HP:0002650Scoliosis0COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM110422198120160
HP:0002650HP:0002650Scoliosis0COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM112032198120160
HP:0002650HP:0002650Scoliosis0COL1A2 CL E G H1278166220Osteogenesis imperfecta with normal sclerae, dominant form166220C0268363OMIM110422198120160
HP:0002650HP:0002650Scoliosis0COL1A2 CL E G H1278166220Osteogenesis imperfecta with normal sclerae, dominant form166220C0268363OMIM112032198120160
HP:0002650HP:0002650Scoliosis0COL27A1 CL E G H85301615155Steel syndrome615155C3554594OMIM171122986608461
HP:0002650HP:0002650Scoliosis0COL27A1 CL E G H85301615155Steel syndrome615155C3554594OMIM181322986608461
HP:0002650HP:0002650Scoliosis0COL2A1 CL E G H1280485ORPHA112132200120140
HP:0002650HP:0002650Scoliosis0COL2A1 CL E G H1280485ORPHA115402200120140
HP:0002650HP:0002650Scoliosis0COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM112132200120140
HP:0002650HP:0002650Scoliosis0COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM115402200120140
HP:0002650HP:0002650Scoliosis0COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM112132200120140
HP:0002650HP:0002650Scoliosis0COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM115402200120140
HP:0002650HP:0002650Scoliosis0COL2A1 CL E G H1280184250Spondylometaphyseal dysplasia184250C0700635OMIM112132200120140
HP:0002650HP:0002650Scoliosis0COL2A1 CL E G H1280184250Spondylometaphyseal dysplasia184250C0700635OMIM115402200120140
HP:0002650HP:0002650Scoliosis0COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM112132200120140
HP:0002650HP:0002650Scoliosis0COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM115402200120140
HP:0002650HP:0002650Scoliosis0COL3A1 CL E G H12812500Glucocorticoid sensitive hypertensionORPHA119352201120180
HP:0002650HP:0002650Scoliosis0COL3A1 CL E G H12812500Glucocorticoid sensitive hypertensionORPHA120832201120180
HP:0002650HP:0002650Scoliosis0COL5A1 CL E G H1289287ORPHA120772209120215
HP:0002650HP:0002650Scoliosis0COL5A1 CL E G H1289287ORPHA122462209120215
HP:0002650HP:0002650Scoliosis0COL5A2 CL E G H1290287ORPHA110302210120190
HP:0002650HP:0002650Scoliosis0COL5A2 CL E G H1290287ORPHA111212210120190
HP:0002650HP:0002650Scoliosis0COL6A1 CL E G H129175840ORPHA112192211120220
HP:0002650HP:0002650Scoliosis0COL6A1 CL E G H129175840ORPHA113422211120220
HP:0002650HP:0002650Scoliosis0COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM112192211120220
HP:0002650HP:0002650Scoliosis0COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113422211120220
HP:0002650HP:0002650Scoliosis0COL6A2 CL E G H129275840ORPHA113702212120240
HP:0002650HP:0002650Scoliosis0COL6A2 CL E G H129275840ORPHA115122212120240
HP:0002650HP:0002650Scoliosis0COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113702212120240
HP:0002650HP:0002650Scoliosis0COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM115122212120240
HP:0002650HP:0002650Scoliosis0COL6A3 CL E G H129375840ORPHA119712213120250
HP:0002650HP:0002650Scoliosis0COL6A3 CL E G H129375840ORPHA122332213120250
HP:0002650HP:0002650Scoliosis0COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM119712213120250
HP:0002650HP:0002650Scoliosis0COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM122332213120250
HP:0002650HP:0002650Scoliosis0COLEC10 CL E G H10584293843ORPHA1542220607620
HP:0002650HP:0002650Scoliosis0COLEC10 CL E G H10584293843ORPHA1552220607620
HP:0002650HP:0002650Scoliosis0COLEC11 CL E G H78989293843ORPHA16217213612502
HP:0002650HP:0002650Scoliosis0COLEC11 CL E G H78989293843ORPHA16517213612502
HP:0002650HP:0002650Scoliosis0COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM13642226603033
HP:0002650HP:0002650Scoliosis0COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14182226603033
HP:0002650HP:0002650Scoliosis0COMP CL E G H1311750ORPHA12872227600310
HP:0002650HP:0002650Scoliosis0COMP CL E G H1311750ORPHA13752227600310
HP:0002650HP:0002650Scoliosis0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11512309605032
HP:0002650HP:0002650Scoliosis0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11632309605032
HP:0002650HP:0002650Scoliosis0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110122348600140
HP:0002650HP:0002650Scoliosis0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110712348600140
HP:0002650HP:0002650Scoliosis0CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA1712364604237
HP:0002650HP:0002650Scoliosis0CRTAP CL E G H10491610682Osteogenesis imperfecta type 7610682C1853162OMIM13672379605497
HP:0002650HP:0002650Scoliosis0CRTAP CL E G H10491610682Osteogenesis imperfecta type 7610682C1853162OMIM14152379605497
HP:0002650HP:0002650Scoliosis0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11742494602618
HP:0002650HP:0002650Scoliosis0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11872494602618
HP:0002650HP:0002650Scoliosis0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM172926169613129
HP:0002650HP:0002650Scoliosis0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM191826169613129
HP:0002650HP:0002650Scoliosis0CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA13042516604275
HP:0002650HP:0002650Scoliosis0CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA13082516604275
HP:0002650HP:0002650Scoliosis0CTSK CL E G H1513265800Pyknodysostosis265800C0238402OMIM11632536601105
HP:0002650HP:0002650Scoliosis0CTSK CL E G H1513265800Pyknodysostosis265800C0238402OMIM11862536601105
HP:0002650HP:0002650Scoliosis0CUL4B CL E G H845085293ORPHA13102555300304
HP:0002650HP:0002650Scoliosis0CUL4B CL E G H845085293ORPHA13222555300304
HP:0002650HP:0002650Scoliosis0DACT1 CL E G H51339617466Townes-Brocks syndrome 2617466C4479534OMIM15617748607861
HP:0002650HP:0002650Scoliosis0DCHS1 CL E G H8642601390601390601390OMIM134713681603057
HP:0002650HP:0002650Scoliosis0DCHS1 CL E G H8642601390601390601390OMIM150213681603057
HP:0002650HP:0002650Scoliosis0DDHD1 CL E G H80821101008ORPHA122619714614603
HP:0002650HP:0002650Scoliosis0DDHD1 CL E G H80821101008ORPHA128019714614603
HP:0002650HP:0002650Scoliosis0DDHD1 CL E G H80821609340Spastic paraplegia 28, autosomal recessive609340C1836295OMIM122619714614603
HP:0002650HP:0002650Scoliosis0DDHD1 CL E G H80821609340Spastic paraplegia 28, autosomal recessive609340C1836295OMIM128019714614603
HP:0002650HP:0002650Scoliosis0DDR2 CL E G H4921271665Spondylometaepiphyseal dysplasia short limb-hand type271665C1849011OMIM11902731191311
HP:0002650HP:0002650Scoliosis0DDR2 CL E G H4921271665Spondylometaepiphyseal dysplasia short limb-hand type271665C1849011OMIM12252731191311
HP:0002650HP:0002650Scoliosis0DEAF1 CL E G H10522819ORPHA117914677602635
HP:0002650HP:0002650Scoliosis0DEAF1 CL E G H10522819ORPHA131114677602635
HP:0002650HP:0002650Scoliosis0DKK1 CL E G H22943268882ORPHA1242891605189
HP:0002650HP:0002650Scoliosis0DLL3 CL E G H106832311Autosomal recessive spondylocostal dysostosisCN043670ORPHA11852909602768
HP:0002650HP:0002650Scoliosis0DLL3 CL E G H106832311Autosomal recessive spondylocostal dysostosisCN043670ORPHA12282909602768
HP:0002650HP:0002650Scoliosis0DMD CL E G H175698896ORPHA156012928300377
HP:0002650HP:0002650Scoliosis0DMD CL E G H175698896ORPHA163952928300377
HP:0002650HP:0002650Scoliosis0DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM156012928300377
HP:0002650HP:0002650Scoliosis0DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM163952928300377
HP:0002650HP:0002650Scoliosis0DNAJC6 CL E G H9829391411ORPHA117315469608375
HP:0002650HP:0002650Scoliosis0DNAJC6 CL E G H9829391411ORPHA121515469608375
HP:0002650HP:0002650Scoliosis0DOK7 CL E G H285489994ORPHA164526594610285
HP:0002650HP:0002650Scoliosis0DOK7 CL E G H285489994ORPHA175026594610285
HP:0002650HP:0002650Scoliosis0DPAGT1 CL E G H1798614750Congenital myasthenic syndrome 13614750C3553645OMIM11992995191350
HP:0002650HP:0002650Scoliosis0DPAGT1 CL E G H1798614750Congenital myasthenic syndrome 13614750C3553645OMIM12332995191350
HP:0002650HP:0002650Scoliosis0DPF2 CL E G H59771465ORPHA1379964601671
HP:0002650HP:0002650Scoliosis0DPF2 CL E G H59771465ORPHA1459964601671
HP:0002650HP:0002650Scoliosis0DPM2 CL E G H8818615042Congenital disorder of glycosylation type 1u615042C3554385OMIM11133006603564
HP:0002650HP:0002650Scoliosis0DPM2 CL E G H8818615042Congenital disorder of glycosylation type 1u615042C3554385OMIM11233006603564
HP:0002650HP:0002650Scoliosis0DPP6 CL E G H1804616311Mental retardation, autosomal dominant 33616311C4225375OMIM12223010126141
HP:0002650HP:0002650Scoliosis0DPP6 CL E G H1804616311Mental retardation, autosomal dominant 33616311C4225375OMIM12253010126141
HP:0002650HP:0002650Scoliosis0DYM CL E G H54808239ORPHA119121317607461
HP:0002650HP:0002650Scoliosis0DYM CL E G H54808239ORPHA122921317607461
HP:0002650HP:0002650Scoliosis0DYM CL E G H54808607326Smith-McCort dysplasia 1607326C1846431OMIM119121317607461
HP:0002650HP:0002650Scoliosis0DYM CL E G H54808607326Smith-McCort dysplasia 1607326C1846431OMIM122921317607461
HP:0002650HP:0002650Scoliosis0DYNC2H1 CL E G H79659613091Short-rib thoracic dysplasia 3 with or without polydactyly613091C2751311OMIM112032962603297
HP:0002650HP:0002650Scoliosis0DYNC2H1 CL E G H79659613091Short-rib thoracic dysplasia 3 with or without polydactyly613091C2751311OMIM113762962603297
HP:0002650HP:0002650Scoliosis0EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12653133300205
HP:0002650HP:0002650Scoliosis0EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12863133300205
HP:0002650HP:0002650Scoliosis0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM1803188605984
HP:0002650HP:0002650Scoliosis0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM1863188605984
HP:0002650HP:0002650Scoliosis0EFNB1 CL E G H19471520ORPHA12013226300035
HP:0002650HP:0002650Scoliosis0EFNB1 CL E G H19471520ORPHA12103226300035
HP:0002650HP:0002650Scoliosis0ELP1 CL E G H85181764ORPHA110545959603722
HP:0002650HP:0002650Scoliosis0ELP1 CL E G H85181764ORPHA111815959603722
HP:0002650HP:0002650Scoliosis0ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM110545959603722
HP:0002650HP:0002650Scoliosis0ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM111815959603722
HP:0002650HP:0002650Scoliosis0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM16783373602700
HP:0002650HP:0002650Scoliosis0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM17313373602700
HP:0002650HP:0002650Scoliosis0ERCC4 CL E G H207284ORPHA14693436133520
HP:0002650HP:0002650Scoliosis0ERCC4 CL E G H207284ORPHA15383436133520
HP:0002650HP:0002650Scoliosis0ERLIN2 CL E G H11160209951ORPHA11381356611605
HP:0002650HP:0002650Scoliosis0ERLIN2 CL E G H11160209951ORPHA11471356611605
HP:0002650HP:0002650Scoliosis0ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM11381356611605
HP:0002650HP:0002650Scoliosis0ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM11471356611605
HP:0002650HP:0002650Scoliosis0EXT2 CL E G H2132616682Seizures, scoliosis, and macrocephaly syndrome616682C4225248OMIM13793513608210
HP:0002650HP:0002650Scoliosis0EXT2 CL E G H2132616682Seizures, scoliosis, and macrocephaly syndrome616682C4225248OMIM14663513608210
HP:0002650HP:0002650Scoliosis0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM13293527601573
HP:0002650HP:0002650Scoliosis0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM13643527601573
HP:0002650HP:0002650Scoliosis0FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM122524587610531
HP:0002650HP:0002650Scoliosis0FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM125124587610531
HP:0002650HP:0002650Scoliosis0FANCA CL E G H217584ORPHA126583582607139
HP:0002650HP:0002650Scoliosis0FANCA CL E G H217584ORPHA131463582607139
HP:0002650HP:0002650Scoliosis0FANCB CL E G H218784ORPHA14103583300515
HP:0002650HP:0002650Scoliosis0FANCB CL E G H218784ORPHA14813583300515
HP:0002650HP:0002650Scoliosis0FANCC CL E G H217684ORPHA110793584613899
HP:0002650HP:0002650Scoliosis0FANCC CL E G H217684ORPHA111753584613899
HP:0002650HP:0002650Scoliosis0FANCD2 CL E G H217784ORPHA17293585613984
HP:0002650HP:0002650Scoliosis0FANCD2 CL E G H217784ORPHA18643585613984
HP:0002650HP:0002650Scoliosis0FANCE CL E G H217884ORPHA12813586613976
HP:0002650HP:0002650Scoliosis0FANCE CL E G H217884ORPHA13603586613976
HP:0002650HP:0002650Scoliosis0FANCF CL E G H218884ORPHA12453587613897
HP:0002650HP:0002650Scoliosis0FANCF CL E G H218884ORPHA13123587613897
HP:0002650HP:0002650Scoliosis0FANCG CL E G H218984ORPHA14733588602956
HP:0002650HP:0002650Scoliosis0FANCG CL E G H218984ORPHA15353588602956
HP:0002650HP:0002650Scoliosis0FANCI CL E G H5521584ORPHA179125568611360
HP:0002650HP:0002650Scoliosis0FANCI CL E G H5521584ORPHA1104025568611360
HP:0002650HP:0002650Scoliosis0FANCL CL E G H5512084ORPHA126120748608111
HP:0002650HP:0002650Scoliosis0FANCL CL E G H5512084ORPHA134820748608111
HP:0002650HP:0002650Scoliosis0FANCM CL E G H5769784ORPHA1117923168609644
HP:0002650HP:0002650Scoliosis0FANCM CL E G H5769784ORPHA1145023168609644
HP:0002650HP:0002650Scoliosis0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM151923109612411
HP:0002650HP:0002650Scoliosis0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM198923109612411
HP:0002650HP:0002650Scoliosis0FBLN5 CL E G H10516614434Cutis laxa, autosomal dominant 2614434C3280794OMIM12003602604580
HP:0002650HP:0002650Scoliosis0FBLN5 CL E G H10516614434Cutis laxa, autosomal dominant 2614434C3280794OMIM12583602604580
HP:0002650HP:0002650Scoliosis0FBN1 CL E G H22002462ORPHA149683603134797
HP:0002650HP:0002650Scoliosis0FBN1 CL E G H22002462ORPHA154573603134797
HP:0002650HP:0002650Scoliosis0FBN1 CL E G H2200608328Weill-Marchesani syndrome 2608328C1869115OMIM149683603134797
HP:0002650HP:0002650Scoliosis0FBN1 CL E G H2200608328Weill-Marchesani syndrome 2608328C1869115OMIM154573603134797
HP:0002650HP:0002650Scoliosis0FGD1 CL E G H2245305400Aarskog syndrome305400C0175701OMIM13123663300546
HP:0002650HP:0002650Scoliosis0FGD1 CL E G H2245305400Aarskog syndrome305400C0175701OMIM13193663300546
HP:0002650HP:0002650Scoliosis0FGD4 CL E G H121512609311Charcot-Marie-Tooth disease, type 4H609311C1836336OMIM153919125611104
HP:0002650HP:0002650Scoliosis0FGD4 CL E G H121512609311Charcot-Marie-Tooth disease, type 4H609311C1836336OMIM159919125611104
HP:0002650HP:0002650Scoliosis0FGFR3 CL E G H226185164ORPHA15413690134934
HP:0002650HP:0002650Scoliosis0FGFR3 CL E G H226185164ORPHA15423690134934
HP:0002650HP:0002650Scoliosis0FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM15413690134934
HP:0002650HP:0002650Scoliosis0FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM15423690134934
HP:0002650HP:0002650Scoliosis0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12143693605830
HP:0002650HP:0002650Scoliosis0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12673693605830
HP:0002650HP:0002650Scoliosis0FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM14373702300163
HP:0002650HP:0002650Scoliosis0FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM14863702300163
HP:0002650HP:0002650Scoliosis0FHL1 CL E G H2273300280Uruguay faciocardiomusculoskeletal syndrome300280C1846010OMIM14373702300163
HP:0002650HP:0002650Scoliosis0FHL1 CL E G H2273300280Uruguay faciocardiomusculoskeletal syndrome300280C1846010OMIM14863702300163
HP:0002650HP:0002650Scoliosis0FKBP10 CL E G H60681259450Bruck syndrome 1259450C1850168OMIM119218169607063
HP:0002650HP:0002650Scoliosis0FKBP10 CL E G H60681259450Bruck syndrome 1259450C1850168OMIM124118169607063
HP:0002650HP:0002650Scoliosis0FKBP10 CL E G H606812771Hydrocephalus costovertebral dysplasia Sprengel anomalyORPHA119218169607063
HP:0002650HP:0002650Scoliosis0FKBP10 CL E G H606812771Hydrocephalus costovertebral dysplasia Sprengel anomalyORPHA124118169607063
HP:0002650HP:0002650Scoliosis0FKBP10 CL E G H60681610968Osteogenesis imperfecta, type XI610968C3151218OMIM119218169607063
HP:0002650HP:0002650Scoliosis0FKBP10 CL E G H60681610968Osteogenesis imperfecta, type XI610968C3151218OMIM124118169607063
HP:0002650HP:0002650Scoliosis0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM157217997606596
HP:0002650HP:0002650Scoliosis0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM167117997606596
HP:0002650HP:0002650Scoliosis0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM157217997606596
HP:0002650HP:0002650Scoliosis0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM167117997606596
HP:0002650HP:0002650Scoliosis0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM15993622607440
HP:0002650HP:0002650Scoliosis0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM16793622607440
HP:0002650HP:0002650Scoliosis0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1127427310607273
HP:0002650HP:0002650Scoliosis0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1143927310607273
HP:0002650HP:0002650Scoliosis0FLII CL E G H2314819ORPHA11553750600362
HP:0002650HP:0002650Scoliosis0FLII CL E G H2314819ORPHA11583750600362
HP:0002650HP:0002650Scoliosis0FLNA CL E G H23161826Dexamethasone sensitive hypertensionORPHA118933754300017
HP:0002650HP:0002650Scoliosis0FLNA CL E G H23161826Dexamethasone sensitive hypertensionORPHA121303754300017
HP:0002650HP:0002650Scoliosis0FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM118933754300017
HP:0002650HP:0002650Scoliosis0FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM121303754300017
HP:0002650HP:0002650Scoliosis0FLNA CL E G H23162484Glaucoma type 1CORPHA118933754300017
HP:0002650HP:0002650Scoliosis0FLNA CL E G H23162484Glaucoma type 1CORPHA121303754300017
HP:0002650HP:0002650Scoliosis0FLNA CL E G H2316311300Oto-palato-digital syndrome, type I311300C0265251OMIM118933754300017
HP:0002650HP:0002650Scoliosis0FLNA CL E G H2316311300Oto-palato-digital syndrome, type I311300C0265251OMIM121303754300017
HP:0002650HP:0002650Scoliosis0FLNB CL E G H2317108721Atelosteogenesis type 3108721C3668942OMIM17863755603381
HP:0002650HP:0002650Scoliosis0FLNB CL E G H2317108721Atelosteogenesis type 3108721C3668942OMIM19883755603381
HP:0002650HP:0002650Scoliosis0FLNB CL E G H2317150250Larsen syndrome, dominant type150250C1835564OMIM17863755603381
HP:0002650HP:0002650Scoliosis0FLNB CL E G H2317150250Larsen syndrome, dominant type150250C1835564OMIM19883755603381
HP:0002650HP:0002650Scoliosis0FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM17863755603381
HP:0002650HP:0002650Scoliosis0FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM19883755603381
HP:0002650HP:0002650Scoliosis0FLRT1 CL E G H23769320406ORPHA11213760604806
HP:0002650HP:0002650Scoliosis0FLRT1 CL E G H23769320406ORPHA11263760604806
HP:0002650HP:0002650Scoliosis0FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM132624682609144
HP:0002650HP:0002650Scoliosis0FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM139124682609144
HP:0002650HP:0002650Scoliosis0FMR1 CL E G H2332300624Fragile X syndrome300624C0016667OMIM13173775309550
HP:0002650HP:0002650Scoliosis0FMR1 CL E G H2332300624Fragile X syndrome300624C0016667OMIM13223775309550
HP:0002650HP:0002650Scoliosis0FN1 CL E G H2335184255Spondylometaphyseal dysplasia - Sutcliffe type184255C0432221OMIM14733778135600
HP:0002650HP:0002650Scoliosis0FN1 CL E G H2335184255Spondylometaphyseal dysplasia - Sutcliffe type184255C0432221OMIM16093778135600
HP:0002650HP:0002650Scoliosis0FOXG1 CL E G H2290261144ORPHA14913811164874
HP:0002650HP:0002650Scoliosis0FOXG1 CL E G H2290261144ORPHA15343811164874
HP:0002650HP:0002650Scoliosis0FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM14913811164874
HP:0002650HP:0002650Scoliosis0FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM15343811164874
HP:0002650HP:0002650Scoliosis0FUCA1 CL E G H2517230000Fucosidosis230000C0016788OMIM11374006612280
HP:0002650HP:0002650Scoliosis0FUCA1 CL E G H2517230000Fucosidosis230000C0016788OMIM11884006612280
HP:0002650HP:0002650Scoliosis0FUZ CL E G H801993027Iris dysplasia hypertelorism deafnessORPHA13526219610622
HP:0002650HP:0002650Scoliosis0FUZ CL E G H801993027Iris dysplasia hypertelorism deafnessORPHA13826219610622
HP:0002650HP:0002650Scoliosis0FXN CL E G H239595ORPHA11313951606829
HP:0002650HP:0002650Scoliosis0FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM11313951606829
HP:0002650HP:0002650Scoliosis0GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM11414092605363
HP:0002650HP:0002650Scoliosis0GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM11624092605363
HP:0002650HP:0002650Scoliosis0GALNS CL E G H2588253000Mucopolysaccharidosis, MPS-IV-A253000C0086651OMIM18174122612222
HP:0002650HP:0002650Scoliosis0GALNS CL E G H2588253000Mucopolysaccharidosis, MPS-IV-A253000C0086651OMIM18774122612222
HP:0002650HP:0002650Scoliosis0GAN CL E G H8139643ORPHA15334137605379
HP:0002650HP:0002650Scoliosis0GAN CL E G H8139643ORPHA15944137605379
HP:0002650HP:0002650Scoliosis0GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM15334137605379
HP:0002650HP:0002650Scoliosis0GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM15944137605379
HP:0002650HP:0002650Scoliosis0GARS CL E G H2617601472Charcot-Marie-Tooth disease type 2D601472C1832274OMIM14162600287
HP:0002650HP:0002650Scoliosis0GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM12574193600225
HP:0002650HP:0002650Scoliosis0GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM13154193600225
HP:0002650HP:0002650Scoliosis0GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM142315968606598
HP:0002650HP:0002650Scoliosis0GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM144415968606598
HP:0002650HP:0002650Scoliosis0GDF3 CL E G H95732345ORPHA1774218606522
HP:0002650HP:0002650Scoliosis0GDF3 CL E G H95732345ORPHA1824218606522
HP:0002650HP:0002650Scoliosis0GDF5 CL E G H8200968ORPHA11244220601146
HP:0002650HP:0002650Scoliosis0GDF5 CL E G H8200968ORPHA11494220601146
HP:0002650HP:0002650Scoliosis0GDF6 CL E G H3922552345ORPHA12124221601147
HP:0002650HP:0002650Scoliosis0GDF6 CL E G H3922552345ORPHA12704221601147
HP:0002650HP:0002650Scoliosis0GJB1 CL E G H27051175CDK4 linked melanomaORPHA17324283304040
HP:0002650HP:0002650Scoliosis0GJB1 CL E G H27051175CDK4 linked melanomaORPHA17714283304040
HP:0002650HP:0002650Scoliosis0GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM117417494608803
HP:0002650HP:0002650Scoliosis0GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM122117494608803
HP:0002650HP:0002650Scoliosis0GLB1 CL E G H2720230650Gangliosidosis GM1 type 3230650C0268273OMIM15074298611458
HP:0002650HP:0002650Scoliosis0GLB1 CL E G H2720230650Gangliosidosis GM1 type 3230650C0268273OMIM15964298611458
HP:0002650HP:0002650Scoliosis0GLB1 CL E G H2720230500Infantile GM1 gangliosidosis230500C0268271OMIM15074298611458
HP:0002650HP:0002650Scoliosis0GLB1 CL E G H2720230500Infantile GM1 gangliosidosis230500C0268271OMIM15964298611458
HP:0002650HP:0002650Scoliosis0GLB1 CL E G H2720253010Mucopolysaccharidosis, MPS-IV-B253010C0086652OMIM15074298611458
HP:0002650HP:0002650Scoliosis0GLB1 CL E G H2720253010Mucopolysaccharidosis, MPS-IV-B253010C0086652OMIM15964298611458
HP:0002650HP:0002650Scoliosis0GNE CL E G H10020269921Sialuria269921C0342853OMIM160423657603824
HP:0002650HP:0002650Scoliosis0GNE CL E G H10020269921Sialuria269921C0342853OMIM168223657603824
HP:0002650HP:0002650Scoliosis0GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM11934416602744
HP:0002650HP:0002650Scoliosis0GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM12414416602744
HP:0002650HP:0002650Scoliosis0GNPTAB CL E G H79158252600Pseudo-Hurler polydystrophy252600C0033788OMIM173029670607840
HP:0002650HP:0002650Scoliosis0GNPTAB CL E G H79158252600Pseudo-Hurler polydystrophy252600C0033788OMIM182829670607840
HP:0002650HP:0002650Scoliosis0GNPTG CL E G H84572252605Mucolipidosis III Gamma252605C1854896OMIM143823026607838
HP:0002650HP:0002650Scoliosis0GNPTG CL E G H84572252605Mucolipidosis III Gamma252605C1854896OMIM150623026607838
HP:0002650HP:0002650Scoliosis0GORAB CL E G H923442078ORPHA113025676607983
HP:0002650HP:0002650Scoliosis0GORAB CL E G H923442078ORPHA117425676607983
HP:0002650HP:0002650Scoliosis0GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM12174431604027
HP:0002650HP:0002650Scoliosis0GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM12524431604027
HP:0002650HP:0002650Scoliosis0GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA16944451300037
HP:0002650HP:0002650Scoliosis0GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA17834451300037
HP:0002650HP:0002650Scoliosis0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM16944451300037
HP:0002650HP:0002650Scoliosis0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM17834451300037
HP:0002650HP:0002650Scoliosis0GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12124452300168
HP:0002650HP:0002650Scoliosis0GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12174452300168
HP:0002650HP:0002650Scoliosis0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12124452300168
HP:0002650HP:0002650Scoliosis0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12174452300168
HP:0002650HP:0002650Scoliosis0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1344670607434
HP:0002650HP:0002650Scoliosis0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1504670607434
HP:0002650HP:0002650Scoliosis0GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA11934696611499
HP:0002650HP:0002650Scoliosis0GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA12304696611499
HP:0002650HP:0002650Scoliosis0GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM11934696611499
HP:0002650HP:0002650Scoliosis0GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM12304696611499
HP:0002650HP:0002650Scoliosis0H19 CL E G H2831202128Enolase deficiency type 3ORPHA1514713103280
HP:0002650HP:0002650Scoliosis0H19 CL E G H2831202128Enolase deficiency type 3ORPHA1534713103280
HP:0002650HP:0002650Scoliosis0HACE1 CL E G H57531464282ORPHA17621033610876
HP:0002650HP:0002650Scoliosis0HACE1 CL E G H57531464282ORPHA19121033610876
HP:0002650HP:0002650Scoliosis0HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM15064867605109
HP:0002650HP:0002650Scoliosis0HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM15454867605109
HP:0002650HP:0002650Scoliosis0HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM16024868605837
HP:0002650HP:0002650Scoliosis0HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM16224868605837
HP:0002650HP:0002650Scoliosis0HES7 CL E G H846672311Autosomal recessive spondylocostal dysostosisCN043670ORPHA15615977608059
HP:0002650HP:0002650Scoliosis0HES7 CL E G H846672311Autosomal recessive spondylocostal dysostosisCN043670ORPHA17815977608059
HP:0002650HP:0002650Scoliosis0HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11865042300610
HP:0002650HP:0002650Scoliosis0HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11915042300610
HP:0002650HP:0002650Scoliosis0HNRNPK CL E G H3190616580AU-KLINE SYNDROME616580C4225274OMIM11085044600712
HP:0002650HP:0002650Scoliosis0HNRNPK CL E G H3190616580AU-KLINE SYNDROME616580C4225274OMIM11115044600712
HP:0002650HP:0002650Scoliosis0HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM15605213601860
HP:0002650HP:0002650Scoliosis0HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM16395213601860
HP:0002650HP:0002650Scoliosis0HSPB8 CL E G H26353608673Charcot-Marie-Tooth disease, type 2L608673C1837552OMIM115730171608014
HP:0002650HP:0002650Scoliosis0HSPB8 CL E G H26353608673Charcot-Marie-Tooth disease, type 2L608673C1837552OMIM117430171608014
HP:0002650HP:0002650Scoliosis0HSPG2 CL E G H3339800ORPHA113275273142461
HP:0002650HP:0002650Scoliosis0HSPG2 CL E G H3339800ORPHA116005273142461
HP:0002650HP:0002650Scoliosis0HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM11454851613004
HP:0002650HP:0002650Scoliosis0HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM13934851613004
HP:0002650HP:0002650Scoliosis0IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM117729685612801
HP:0002650HP:0002650Scoliosis0IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM124629685612801
HP:0002650HP:0002650Scoliosis0IDH1 CL E G H3417163634ORPHA1685382147700
HP:0002650HP:0002650Scoliosis0IDH1 CL E G H3417163634ORPHA1695382147700
HP:0002650HP:0002650Scoliosis0IDH2 CL E G H3418163634ORPHA11405383147650
HP:0002650HP:0002650Scoliosis0IDH2 CL E G H3418163634ORPHA11625383147650
HP:0002650HP:0002650Scoliosis0IDUA CL E G H342593473ORPHA19715391252800
HP:0002650HP:0002650Scoliosis0IDUA CL E G H342593473ORPHA111145391252800
HP:0002650HP:0002650Scoliosis0IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM19715391252800
HP:0002650HP:0002650Scoliosis0IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM111145391252800
HP:0002650HP:0002650Scoliosis0IGBP1 CL E G H347652055ORPHA11535461300139
HP:0002650HP:0002650Scoliosis0IGBP1 CL E G H347652055ORPHA11565461300139
HP:0002650HP:0002650Scoliosis0IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM11535461300139
HP:0002650HP:0002650Scoliosis0IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM11565461300139
HP:0002650HP:0002650Scoliosis0IGF2 CL E G H34812128Enolase deficiency type 3ORPHA1785466147470
HP:0002650HP:0002650Scoliosis0IGF2 CL E G H34812128Enolase deficiency type 3ORPHA1875466147470
HP:0002650HP:0002650Scoliosis0IHH CL E G H3549607778Acrocapitofemoral dysplasia607778C1843096OMIM11475956600726
HP:0002650HP:0002650Scoliosis0IHH CL E G H3549607778Acrocapitofemoral dysplasia607778C1843096OMIM11785956600726
HP:0002650HP:0002650Scoliosis0IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA13265961300248
HP:0002650HP:0002650Scoliosis0IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA13375961300248
HP:0002650HP:0002650Scoliosis0INPP5K CL E G H51763559ORPHA114533882607875
HP:0002650HP:0002650Scoliosis0INPP5K CL E G H51763559ORPHA115333882607875
HP:0002650HP:0002650Scoliosis0INPP5K CL E G H51763617404Muscular dystrophy, congenital, with cataracts and intellectual disability617404C4479410OMIM114533882607875
HP:0002650HP:0002650Scoliosis0INPP5K CL E G H51763617404Muscular dystrophy, congenital, with cataracts and intellectual disability617404C4479410OMIM115333882607875
HP:0002650HP:0002650Scoliosis0IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM13176109601491
HP:0002650HP:0002650Scoliosis0IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM13186109601491
HP:0002650HP:0002650Scoliosis0IQSEC2 CL E G H23096819ORPHA175329059300522
HP:0002650HP:0002650Scoliosis0IQSEC2 CL E G H23096819ORPHA183229059300522
HP:0002650HP:0002650Scoliosis0IRF6 CL E G H36641300ORPHA12496121607199
HP:0002650HP:0002650Scoliosis0IRF6 CL E G H36641300ORPHA12666121607199
HP:0002650HP:0002650Scoliosis0ITGA7 CL E G H3679613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency613204C2750786OMIM15236143600536
HP:0002650HP:0002650Scoliosis0ITGA7 CL E G H3679613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency613204C2750786OMIM16286143600536
HP:0002650HP:0002650Scoliosis0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1104724565612452
HP:0002650HP:0002650Scoliosis0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1114324565612452
HP:0002650HP:0002650Scoliosis0KAT6B CL E G H23522648ORPHA139617582605880
HP:0002650HP:0002650Scoliosis0KAT6B CL E G H23522648ORPHA148717582605880
HP:0002650HP:0002650Scoliosis0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM11776250603305
HP:0002650HP:0002650Scoliosis0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM12776250603305
HP:0002650HP:0002650Scoliosis0KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM14046263600681
HP:0002650HP:0002650Scoliosis0KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM14496263600681
HP:0002650HP:0002650Scoliosis0KCNJ6 CL E G H3763435628ORPHA11016267600877
HP:0002650HP:0002650Scoliosis0KCNJ6 CL E G H3763435628ORPHA11156267600877
HP:0002650HP:0002650Scoliosis0KCNJ6 CL E G H3763614098Keppen-Lubinsky syndrome614098C3279800OMIM11016267600877
HP:0002650HP:0002650Scoliosis0KCNJ6 CL E G H3763614098Keppen-Lubinsky syndrome614098C3279800OMIM11156267600877
HP:0002650HP:0002650Scoliosis0KCNQ1OT1 CL E G H109842128Enolase deficiency type 3ORPHA11086295604115
HP:0002650HP:0002650Scoliosis0KCNQ1OT1 CL E G H109842128Enolase deficiency type 3ORPHA11186295604115
HP:0002650HP:0002650Scoliosis0KDM6A CL E G H74032322ORPHA150212637300128
HP:0002650HP:0002650Scoliosis0KDM6A CL E G H74032322ORPHA156212637300128
HP:0002650HP:0002650Scoliosis0KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM150212637300128
HP:0002650HP:0002650Scoliosis0KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM156212637300128
HP:0002650HP:0002650Scoliosis0KIF22 CL E G H383593360ORPHA13196391603213
HP:0002650HP:0002650Scoliosis0KIF22 CL E G H383593360ORPHA13686391603213
HP:0002650HP:0002650Scoliosis0KIF22 CL E G H3835603546Spondyloepimetaphyseal dysplasia with multiple dislocations603546C1863732OMIM13196391603213
HP:0002650HP:0002650Scoliosis0KIF22 CL E G H3835603546Spondyloepimetaphyseal dysplasia with multiple dislocations603546C1863732OMIM13686391603213
HP:0002650HP:0002650Scoliosis0KIF5A CL E G H3798604187Spastic paraplegia 10604187C1858712OMIM13696323602821
HP:0002650HP:0002650Scoliosis0KIF5A CL E G H3798604187Spastic paraplegia 10604187C1858712OMIM15486323602821
HP:0002650HP:0002650Scoliosis0KLC2 CL E G H64837320406ORPHA13120716611729
HP:0002650HP:0002650Scoliosis0KLC2 CL E G H64837320406ORPHA14520716611729
HP:0002650HP:0002650Scoliosis0KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM13120716611729
HP:0002650HP:0002650Scoliosis0KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM14520716611729
HP:0002650HP:0002650Scoliosis0KMT2C CL E G H58508617768KLEEFSTRA SYNDROME 2617768C4540395OMIM142213726606833
HP:0002650HP:0002650Scoliosis0KMT2C CL E G H58508617768KLEEFSTRA SYNDROME 2617768C4540395OMIM156413726606833
HP:0002650HP:0002650Scoliosis0KMT2D CL E G H80852322ORPHA118287133602113
HP:0002650HP:0002650Scoliosis0KMT2D CL E G H80852322ORPHA123717133602113
HP:0002650HP:0002650Scoliosis0KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM118287133602113
HP:0002650HP:0002650Scoliosis0KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM123717133602113
HP:0002650HP:0002650Scoliosis0KRAS CL E G H3845648ORPHA13316407190070
HP:0002650HP:0002650Scoliosis0KRAS CL E G H3845648ORPHA13416407190070
HP:0002650HP:0002650Scoliosis0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA13316407190070
HP:0002650HP:0002650Scoliosis0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA13416407190070
HP:0002650HP:0002650Scoliosis0KRIT1 CL E G H889221061ORPHA13991573604214
HP:0002650HP:0002650Scoliosis0KRIT1 CL E G H889221061ORPHA14511573604214
HP:0002650HP:0002650Scoliosis0LARP7 CL E G H51574615071Alazami syndrome615071C3554439OMIM19524912612026
HP:0002650HP:0002650Scoliosis0LARP7 CL E G H51574615071Alazami syndrome615071C3554439OMIM113324912612026
HP:0002650HP:0002650Scoliosis0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM11886556604407
HP:0002650HP:0002650Scoliosis0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM12286556604407
HP:0002650HP:0002650Scoliosis0LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA11886556604407
HP:0002650HP:0002650Scoliosis0LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA12286556604407
HP:0002650HP:0002650Scoliosis0LFNG CL E G H39552311Autosomal recessive spondylocostal dysostosisCN043670ORPHA11566560602576
HP:0002650HP:0002650Scoliosis0LFNG CL E G H39552311Autosomal recessive spondylocostal dysostosisCN043670ORPHA11916560602576
HP:0002650HP:0002650Scoliosis0LFNG CL E G H3955609813Spondylocostal dysostosis 3609813C1853296OMIM11566560602576
HP:0002650HP:0002650Scoliosis0LFNG CL E G H3955609813Spondylocostal dysostosis 3609813C1853296OMIM11916560602576
HP:0002650HP:0002650Scoliosis0LIFR CL E G H39773206ORPHA15546597151443
HP:0002650HP:0002650Scoliosis0LIFR CL E G H39773206ORPHA16106597151443
HP:0002650HP:0002650Scoliosis0LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM15546597151443
HP:0002650HP:0002650Scoliosis0LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM16106597151443
HP:0002650HP:0002650Scoliosis0LMNB2 CL E G H84823616540Epilepsy, progressive myoclonic, 9616540C4225289OMIM13146638150341
HP:0002650HP:0002650Scoliosis0LMNB2 CL E G H84823616540Epilepsy, progressive myoclonic, 9616540C4225289OMIM13886638150341
HP:0002650HP:0002650Scoliosis0LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM13746654602575
HP:0002650HP:0002650Scoliosis0LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM14306654602575
HP:0002650HP:0002650Scoliosis0LONP1 CL E G H93611458ORPHA12219479605490
HP:0002650HP:0002650Scoliosis0LONP1 CL E G H93611458ORPHA13579479605490
HP:0002650HP:0002650Scoliosis0LTBP4 CL E G H842598896ORPHA14056717604710
HP:0002650HP:0002650Scoliosis0LTBP4 CL E G H842598896ORPHA14746717604710
HP:0002650HP:0002650Scoliosis0LZTR1 CL E G H8216648ORPHA19566742600574
HP:0002650HP:0002650Scoliosis0LZTR1 CL E G H8216648ORPHA112786742600574
HP:0002650HP:0002650Scoliosis0MAD2L2 CL E G H1045984ORPHA1546764604094
HP:0002650HP:0002650Scoliosis0MAD2L2 CL E G H1045984ORPHA1576764604094
HP:0002650HP:0002650Scoliosis0MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM15576814605283
HP:0002650HP:0002650Scoliosis0MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM15806814605283
HP:0002650HP:0002650Scoliosis0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM15576814605283
HP:0002650HP:0002650Scoliosis0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM15806814605283
HP:0002650HP:0002650Scoliosis0MAP2K1 CL E G H5604615279Cardiofaciocutaneous syndrome 3615279C3809006OMIM13066840176872
HP:0002650HP:0002650Scoliosis0MAP2K1 CL E G H5604615279Cardiofaciocutaneous syndrome 3615279C3809006OMIM13366840176872
HP:0002650HP:0002650Scoliosis0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA13066840176872
HP:0002650HP:0002650Scoliosis0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA13366840176872
HP:0002650HP:0002650Scoliosis0MAP2K2 CL E G H5605615280Cardiofaciocutaneous syndrome 4615280C3809007OMIM14526842601263
HP:0002650HP:0002650Scoliosis0MAP2K2 CL E G H5605615280Cardiofaciocutaneous syndrome 4615280C3809007OMIM15156842601263
HP:0002650HP:0002650Scoliosis0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA14526842601263
HP:0002650HP:0002650Scoliosis0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA15156842601263
HP:0002650HP:0002650Scoliosis0MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM17617797609479
HP:0002650HP:0002650Scoliosis0MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM116217797609479
HP:0002650HP:0002650Scoliosis0MAP3K7 CL E G H68851826Dexamethasone sensitive hypertensionORPHA11166859602614
HP:0002650HP:0002650Scoliosis0MAP3K7 CL E G H68851826Dexamethasone sensitive hypertensionORPHA11306859602614
HP:0002650HP:0002650Scoliosis0MAP3K7 CL E G H6885157800Forney Robinson Pascoe syndrome157800C2931461OMIM11166859602614
HP:0002650HP:0002650Scoliosis0MAP3K7 CL E G H6885157800Forney Robinson Pascoe syndrome157800C2931461OMIM11306859602614
HP:0002650HP:0002650Scoliosis0MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM11166859602614
HP:0002650HP:0002650Scoliosis0MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM11306859602614
HP:0002650HP:0002650Scoliosis0MARS2 CL E G H92935314603ORPHA19525133609728
HP:0002650HP:0002650Scoliosis0MARS2 CL E G H92935314603ORPHA110925133609728
HP:0002650HP:0002650Scoliosis0MASP1 CL E G H5648293843ORPHA12146901600521
HP:0002650HP:0002650Scoliosis0MASP1 CL E G H5648293843ORPHA12206901600521
HP:0002650HP:0002650Scoliosis0MBTPS2 CL E G H5136085284ORPHA123115455300294
HP:0002650HP:0002650Scoliosis0MBTPS2 CL E G H5136085284ORPHA124215455300294
HP:0002650HP:0002650Scoliosis0MBTPS2 CL E G H51360308205IFAP syndrome with or without BRESHECK syndrome308205C1839988OMIM123115455300294
HP:0002650HP:0002650Scoliosis0MBTPS2 CL E G H51360308205IFAP syndrome with or without BRESHECK syndrome308205C1839988OMIM124215455300294
HP:0002650HP:0002650Scoliosis0MBTPS2 CL E G H51360301014OSTEOGENESIS IMPERFECTA, TYPE XIX301014CN252653OMIM123115455300294
HP:0002650HP:0002650Scoliosis0MBTPS2 CL E G H51360301014OSTEOGENESIS IMPERFECTA, TYPE XIX301014CN252653OMIM124215455300294
HP:0002650HP:0002650Scoliosis0MECP2 CL E G H4204778ORPHA116036990300005
HP:0002650HP:0002650Scoliosis0MECP2 CL E G H4204778ORPHA116846990300005
HP:0002650HP:0002650Scoliosis0MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM116036990300005
HP:0002650HP:0002650Scoliosis0MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM116846990300005
HP:0002650HP:0002650Scoliosis0MED12 CL E G H9968776ORPHA194111957300188
HP:0002650HP:0002650Scoliosis0MED12 CL E G H9968776ORPHA1103411957300188
HP:0002650HP:0002650Scoliosis0MEGF10 CL E G H84466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset614399C3280679OMIM164729634612453
HP:0002650HP:0002650Scoliosis0MEGF10 CL E G H84466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset614399C3280679OMIM172829634612453
HP:0002650HP:0002650Scoliosis0MEOX1 CL E G H42222345ORPHA1427013600147
HP:0002650HP:0002650Scoliosis0MEOX1 CL E G H42222345ORPHA1687013600147
HP:0002650HP:0002650Scoliosis0MEOX1 CL E G H4222214300Klippel-Feil syndrome 2, autosomal recessive214300C1859209OMIM1427013600147
HP:0002650HP:0002650Scoliosis0MEOX1 CL E G H4222214300Klippel-Feil syndrome 2, autosomal recessive214300C1859209OMIM1687013600147
HP:0002650HP:0002650Scoliosis0MESP2 CL E G H1458732311Autosomal recessive spondylocostal dysostosisCN043670ORPHA125729659605195
HP:0002650HP:0002650Scoliosis0MESP2 CL E G H1458732311Autosomal recessive spondylocostal dysostosisCN043670ORPHA128529659605195
HP:0002650HP:0002650Scoliosis0MFN2 CL E G H9927617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B617087C4310725OMIM182416877608507
HP:0002650HP:0002650Scoliosis0MFN2 CL E G H9927617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B617087C4310725OMIM194416877608507
HP:0002650HP:0002650Scoliosis0MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM182416877608507
HP:0002650HP:0002650Scoliosis0MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM194416877608507
HP:0002650HP:0002650Scoliosis0MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM182416877608507
HP:0002650HP:0002650Scoliosis0MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM194416877608507
HP:0002650HP:0002650Scoliosis0MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM13417114603856
HP:0002650HP:0002650Scoliosis0MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM13447114603856
HP:0002650HP:0002650Scoliosis0MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0002650HP:0002650Scoliosis0MMP13 CL E G H43222501Glucose-6-phosphate translocase deficiencyORPHA11527159600108
HP:0002650HP:0002650Scoliosis0MMP13 CL E G H43222501Glucose-6-phosphate translocase deficiencyORPHA11887159600108
HP:0002650HP:0002650Scoliosis0MPL CL E G H43523319ORPHA13147217159530
HP:0002650HP:0002650Scoliosis0MPL CL E G H43523319ORPHA13677217159530
HP:0002650HP:0002650Scoliosis0MPZ CL E G H4359101082ORPHA14937225159440
HP:0002650HP:0002650Scoliosis0MPZ CL E G H4359101082ORPHA15227225159440
HP:0002650HP:0002650Scoliosis0MSTO1 CL E G H55154502423ORPHA15929678617619
HP:0002650HP:0002650Scoliosis0MSTO1 CL E G H55154502423ORPHA16729678617619
HP:0002650HP:0002650Scoliosis0MTM1 CL E G H4534596Albright like syndromeORPHA16107448300415
HP:0002650HP:0002650Scoliosis0MTM1 CL E G H4534596Albright like syndromeORPHA16487448300415
HP:0002650HP:0002650Scoliosis0MTMR2 CL E G H8898601382Charcot-Marie-Tooth disease, type 4B1601382C1832399OMIM13597450603557
HP:0002650HP:0002650Scoliosis0MTMR2 CL E G H8898601382Charcot-Marie-Tooth disease, type 4B1601382C1832399OMIM14107450603557
HP:0002650HP:0002650Scoliosis0MUSK CL E G H4593994ORPHA13837525601296
HP:0002650HP:0002650Scoliosis0MUSK CL E G H4593994ORPHA14507525601296
HP:0002650HP:0002650Scoliosis0MYF5 CL E G H4617618155OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES618155OMIM1277565159990
HP:0002650HP:0002650Scoliosis0MYH3 CL E G H46211147ORPHA14447573160720
HP:0002650HP:0002650Scoliosis0MYH3 CL E G H46211147ORPHA15337573160720
HP:0002650HP:0002650Scoliosis0MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM14447573160720
HP:0002650HP:0002650Scoliosis0MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM15337573160720
HP:0002650HP:0002650Scoliosis0MYH3 CL E G H4621178110Distal arthrogryposis type 8178110C1867440OMIM14447573160720
HP:0002650HP:0002650Scoliosis0MYH3 CL E G H4621178110Distal arthrogryposis type 8178110C1867440OMIM15337573160720
HP:0002650HP:0002650Scoliosis0MYH3 CL E G H46212053Ectodermal dysplasia neurosensory deafnessORPHA14447573160720
HP:0002650HP:0002650Scoliosis0MYH3 CL E G H46212053Ectodermal dysplasia neurosensory deafnessORPHA15337573160720
HP:0002650HP:0002650Scoliosis0MYH7 CL E G H462559135ORPHA129607577160760
HP:0002650HP:0002650Scoliosis0MYH7 CL E G H462559135ORPHA132927577160760
HP:0002650HP:0002650Scoliosis0MYH7 CL E G H4625324604ORPHA129607577160760
HP:0002650HP:0002650Scoliosis0MYH7 CL E G H4625324604ORPHA132927577160760
HP:0002650HP:0002650Scoliosis0MYH7 CL E G H4625160500Myopathy, distal, 1160500CN074249OMIM129607577160760
HP:0002650HP:0002650Scoliosis0MYH7 CL E G H4625160500Myopathy, distal, 1160500CN074249OMIM132927577160760
HP:0002650HP:0002650Scoliosis0MYMK CL E G H3898271358ORPHA17733778615345
HP:0002650HP:0002650Scoliosis0MYOD1 CL E G H4654994ORPHA1347611159970
HP:0002650HP:0002650Scoliosis0NAA10 CL E G H8260276432ORPHA133318704300013
HP:0002650HP:0002650Scoliosis0NAA10 CL E G H8260276432ORPHA134818704300013
HP:0002650HP:0002650Scoliosis0NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM16120967610672
HP:0002650HP:0002650Scoliosis0NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM112420967610672
HP:0002650HP:0002650Scoliosis0NALCN CL E G H2592321147ORPHA157319082611549
HP:0002650HP:0002650Scoliosis0NALCN CL E G H2592321147ORPHA159019082611549
HP:0002650HP:0002650Scoliosis0NALCN CL E G H2592322053Ectodermal dysplasia neurosensory deafnessORPHA157319082611549
HP:0002650HP:0002650Scoliosis0NALCN CL E G H2592322053Ectodermal dysplasia neurosensory deafnessORPHA159019082611549
HP:0002650HP:0002650Scoliosis0NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM157319082611549
HP:0002650HP:0002650Scoliosis0NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM159019082611549
HP:0002650HP:0002650Scoliosis0NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM13217675602117
HP:0002650HP:0002650Scoliosis0NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM13267675602117
HP:0002650HP:0002650Scoliosis0NDUFAF1 CL E G H51103618234MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11618234OMIM19118828606934
HP:0002650HP:0002650Scoliosis0NDUFAF1 CL E G H51103618234MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11618234OMIM110218828606934
HP:0002650HP:0002650Scoliosis0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM146747720161650
HP:0002650HP:0002650Scoliosis0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM153137720161650
HP:0002650HP:0002650Scoliosis0NELFA CL E G H7469280Halal Setton Wang syndromeORPHA117112768606026
HP:0002650HP:0002650Scoliosis0NELFA CL E G H7469280Halal Setton Wang syndromeORPHA117512768606026
HP:0002650HP:0002650Scoliosis0NEU1 CL E G H4758812ORPHA11157758608272
HP:0002650HP:0002650Scoliosis0NEU1 CL E G H4758812ORPHA11347758608272
HP:0002650HP:0002650Scoliosis0NFIX CL E G H4784561ORPHA12147788164005
HP:0002650HP:0002650Scoliosis0NFIX CL E G H4784561ORPHA12307788164005
HP:0002650HP:0002650Scoliosis0NFIX CL E G H4784602535Marshall-Smith syndrome602535C0265211OMIM12147788164005
HP:0002650HP:0002650Scoliosis0NFIX CL E G H4784602535Marshall-Smith syndrome602535C0265211OMIM12307788164005
HP:0002650HP:0002650Scoliosis0NFIX CL E G H4784614753Sotos syndrome 2614753C3553660OMIM12147788164005
HP:0002650HP:0002650Scoliosis0NFIX CL E G H4784614753Sotos syndrome 2614753C3553660OMIM12307788164005
HP:0002650HP:0002650Scoliosis0NONO CL E G H4841300967Mental retardation, X-linked, syndromic 34300967C4225417OMIM11887871300084
HP:0002650HP:0002650Scoliosis0NONO CL E G H4841300967Mental retardation, X-linked, syndromic 34300967C4225417OMIM11937871300084
HP:0002650HP:0002650Scoliosis0NOTCH2 CL E G H4853955ORPHA15267882600275
HP:0002650HP:0002650Scoliosis0NOTCH2 CL E G H4853955ORPHA16277882600275
HP:0002650HP:0002650Scoliosis0NOTCH3 CL E G H48542789ORPHA18607883600276
HP:0002650HP:0002650Scoliosis0NOTCH3 CL E G H48542789ORPHA19467883600276
HP:0002650HP:0002650Scoliosis0NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM18607883600276
HP:0002650HP:0002650Scoliosis0NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM19467883600276
HP:0002650HP:0002650Scoliosis0NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13491190610922
HP:0002650HP:0002650Scoliosis0NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13511190610922
HP:0002650HP:0002650Scoliosis0NPR2 CL E G H488240ORPHA12857944108961
HP:0002650HP:0002650Scoliosis0NPR2 CL E G H488240ORPHA13447944108961
HP:0002650HP:0002650Scoliosis0NPR2 CL E G H4882615923Epiphyseal chondrodysplasia, miura type615923C4014690OMIM12857944108961
HP:0002650HP:0002650Scoliosis0NPR2 CL E G H4882615923Epiphyseal chondrodysplasia, miura type615923C4014690OMIM13447944108961
HP:0002650HP:0002650Scoliosis0NRAS CL E G H4893648ORPHA12127989164790
HP:0002650HP:0002650Scoliosis0NRAS CL E G H4893648ORPHA12267989164790
HP:0002650HP:0002650Scoliosis0NRXN1 CL E G H9378614325Pitt-Hopkins-like syndrome 2614325C3280479OMIM114138008600565
HP:0002650HP:0002650Scoliosis0NRXN1 CL E G H9378614325Pitt-Hopkins-like syndrome 2614325C3280479OMIM115838008600565
HP:0002650HP:0002650Scoliosis0NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1115414234606681
HP:0002650HP:0002650Scoliosis0NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1124014234606681
HP:0002650HP:0002650Scoliosis0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM124912766602952
HP:0002650HP:0002650Scoliosis0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM126212766602952
HP:0002650HP:0002650Scoliosis0NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA124912766602952
HP:0002650HP:0002650Scoliosis0NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA126212766602952
HP:0002650HP:0002650Scoliosis0NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM128913398300275
HP:0002650HP:0002650Scoliosis0NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM130313398300275
HP:0002650HP:0002650Scoliosis0NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM18621042610463
HP:0002650HP:0002650Scoliosis0NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM114321042610463
HP:0002650HP:0002650Scoliosis0NXN CL E G H643591507Congenital unilateral pulmonary hypoplasiaORPHA116618008612895
HP:0002650HP:0002650Scoliosis0NXN CL E G H643591507Congenital unilateral pulmonary hypoplasiaORPHA120318008612895
HP:0002650HP:0002650Scoliosis0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA14258108300535
HP:0002650HP:0002650Scoliosis0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA14758108300535
HP:0002650HP:0002650Scoliosis0OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM14258108300535
HP:0002650HP:0002650Scoliosis0OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM14758108300535
HP:0002650HP:0002650Scoliosis0OTUD6B CL E G H51633505237ORPHA15624281612021
HP:0002650HP:0002650Scoliosis0OTUD6B CL E G H51633505237ORPHA16124281612021
HP:0002650HP:0002650Scoliosis0OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM15624281612021
HP:0002650HP:0002650Scoliosis0OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM16124281612021
HP:0002650HP:0002650Scoliosis0P3H1 CL E G H64175610915Osteogenesis imperfecta type 8610915C1970458OMIM135919316610339
HP:0002650HP:0002650Scoliosis0P3H1 CL E G H64175610915Osteogenesis imperfecta type 8610915C1970458OMIM143619316610339
HP:0002650HP:0002650Scoliosis0P4HB CL E G H5034112240Cole-Carpenter syndrome 1112240C4317154OMIM1978548176790
HP:0002650HP:0002650Scoliosis0P4HB CL E G H5034112240Cole-Carpenter syndrome 1112240C4317154OMIM11288548176790
HP:0002650HP:0002650Scoliosis0P4HB CL E G H50342050Ectodermal dysplasia Margarita typeORPHA1978548176790
HP:0002650HP:0002650Scoliosis0P4HB CL E G H50342050Ectodermal dysplasia Margarita typeORPHA11288548176790
HP:0002650HP:0002650Scoliosis0PALB2 CL E G H7972884ORPHA1392526144610355
HP:0002650HP:0002650Scoliosis0PALB2 CL E G H7972884ORPHA1424526144610355
HP:0002650HP:0002650Scoliosis0PCNT CL E G H51162637HemimegalencephalyORPHA1112616068605925
HP:0002650HP:0002650Scoliosis0PCNT CL E G H51162637HemimegalencephalyORPHA1136116068605925
HP:0002650HP:0002650Scoliosis0PCYT1A CL E G H513085167ORPHA12098754123695
HP:0002650HP:0002650Scoliosis0PCYT1A CL E G H513085167ORPHA12618754123695
HP:0002650HP:0002650Scoliosis0PCYT1A CL E G H5130608940Spondylometaphyseal dysplasia with cone-rod dystrophy608940C1837073OMIM12098754123695
HP:0002650HP:0002650Scoliosis0PCYT1A CL E G H5130608940Spondylometaphyseal dysplasia with cone-rod dystrophy608940C1837073OMIM12618754123695
HP:0002650HP:0002650Scoliosis0PDCD10 CL E G H11235221061ORPHA11368761609118
HP:0002650HP:0002650Scoliosis0PDCD10 CL E G H11235221061ORPHA11508761609118
HP:0002650HP:0002650Scoliosis0PDE4D <