Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002650	HP:0002650	Scoliosis	0	ABCB7 CL E G H	22	48	ORPHA:2802	X-linked sideroblastic anemia and spinocerebellar ataxia	HP:0040283 - Occasional		35
HP:0002650	HP:0002650	Scoliosis	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional		415
HP:0002650	HP:0002650	Scoliosis	0	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste	.		415
HP:0002650	HP:0002650	Scoliosis	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0002650	HP:0002650	Scoliosis	0	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0002650	HP:0002650	Scoliosis	0	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	.		51
HP:0002650	HP:0002650	Scoliosis	0	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of	.		90
HP:0002650	HP:0002650	Scoliosis	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0002650	HP:0002650	Scoliosis	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		96
HP:0002650	HP:0002650	Scoliosis	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0002650	HP:0002650	Scoliosis	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			96
HP:0002650	HP:0002650	Scoliosis	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.		96
HP:0002650	HP:0002650	Scoliosis	0	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome	HP:0040281 - Very frequent		96
HP:0002650	HP:0002650	Scoliosis	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		96
HP:0002650	HP:0002650	Scoliosis	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		94
HP:0002650	HP:0002650	Scoliosis	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040283 - Occasional		72
HP:0002650	HP:0002650	Scoliosis	0	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome	HP:0040283 - Occasional		72
HP:0002650	HP:0002650	Scoliosis	0	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome	HP:0040281 - Very frequent		72
HP:0002650	HP:0002650	Scoliosis	0	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset			72
HP:0002650	HP:0002650	Scoliosis	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040283 - Occasional		123
HP:0002650	HP:0002650	Scoliosis	0	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ			307
HP:0002650	HP:0002650	Scoliosis	0	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.		49
HP:0002650	HP:0002650	Scoliosis	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1	.		63
HP:0002650	HP:0002650	Scoliosis	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040282 - Frequent		165
HP:0002650	HP:0002650	Scoliosis	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040282 - Frequent		72
HP:0002650	HP:0002650	Scoliosis	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		116
HP:0002650	HP:0002650	Scoliosis	0	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9	HP:0040283 - Occasional		5
HP:0002650	HP:0002650	Scoliosis	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0002650	HP:0002650	Scoliosis	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0002650	HP:0002650	Scoliosis	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0002650	HP:0002650	Scoliosis	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040281 - Very frequent		76
HP:0002650	HP:0002650	Scoliosis	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.		76
HP:0002650	HP:0002650	Scoliosis	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		127
HP:0002650	HP:0002650	Scoliosis	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0002650	HP:0002650	Scoliosis	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040283 - Occasional		36
HP:0002650	HP:0002650	Scoliosis	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		175
HP:0002650	HP:0002650	Scoliosis	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		175
HP:0002650	HP:0002650	Scoliosis	0	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040283 - Occasional		5
HP:0002650	HP:0002650	Scoliosis	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0002650	HP:0002650	Scoliosis	0	AIFM1 CL E G H	9131	8768	ORPHA:101078	X-linked Charcot-Marie-Tooth disease type 4	HP:0040282 - Frequent		60
HP:0002650	HP:0002650	Scoliosis	0	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3			4
HP:0002650	HP:0002650	Scoliosis	0	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17			1
HP:0002650	HP:0002650	Scoliosis	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		1
HP:0002650	HP:0002650	Scoliosis	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		54
HP:0002650	HP:0002650	Scoliosis	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.		54
HP:0002650	HP:0002650	Scoliosis	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent		54
HP:0002650	HP:0002650	Scoliosis	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic			54
HP:0002650	HP:0002650	Scoliosis	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0002650	HP:0002650	Scoliosis	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B			89
HP:0002650	HP:0002650	Scoliosis	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.		89
HP:0002650	HP:0002650	Scoliosis	0	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome	HP:0040283 - Occasional		87
HP:0002650	HP:0002650	Scoliosis	0	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG	HP:0040282 - Frequent		58
HP:0002650	HP:0002650	Scoliosis	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040283 - Occasional		41
HP:0002650	HP:0002650	Scoliosis	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional		68
HP:0002650	HP:0002650	Scoliosis	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0002650	HP:0002650	Scoliosis	0	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		12
HP:0002650	HP:0002650	Scoliosis	0	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		46
HP:0002650	HP:0002650	Scoliosis	0	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14	HP:0040283 - Occasional		46
HP:0002650	HP:0002650	Scoliosis	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040283 - Occasional		66
HP:0002650	HP:0002650	Scoliosis	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0002650	HP:0002650	Scoliosis	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0002650	HP:0002650	Scoliosis	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0002650	HP:0002650	Scoliosis	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		114
HP:0002650	HP:0002650	Scoliosis	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.		114
HP:0002650	HP:0002650	Scoliosis	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent		9
HP:0002650	HP:0002650	Scoliosis	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0002650	HP:0002650	Scoliosis	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040282 - Frequent		34
HP:0002650	HP:0002650	Scoliosis	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional		102
HP:0002650	HP:0002650	Scoliosis	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent		102
HP:0002650	HP:0002650	Scoliosis	0	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0002650	HP:0002650	Scoliosis	0	ANO5 CL E G H	203859	27337	ORPHA:53697	Gnathodiaphyseal dysplasia	HP:0040283 - Occasional		304
HP:0002650	HP:0002650	Scoliosis	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.		8
HP:0002650	HP:0002650	Scoliosis	0	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0002650	HP:0002650	Scoliosis	0	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome	HP:0040282 - Frequent		13
HP:0002650	HP:0002650	Scoliosis	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	.		13
HP:0002650	HP:0002650	Scoliosis	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional		3179
HP:0002650	HP:0002650	Scoliosis	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		1
HP:0002650	HP:0002650	Scoliosis	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia			61
HP:0002650	HP:0002650	Scoliosis	0	ARF1 CL E G H	375	652	ORPHA:98892	Periventricular nodular heterotopia	HP:0040281 - Very frequent
HP:0002650	HP:0002650	Scoliosis	0	ARFGEF2 CL E G H	10564	15853	ORPHA:98892	Periventricular nodular heterotopia	HP:0040281 - Very frequent		179
HP:0002650	HP:0002650	Scoliosis	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		88
HP:0002650	HP:0002650	Scoliosis	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		219
HP:0002650	HP:0002650	Scoliosis	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0002650	HP:0002650	Scoliosis	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		25
HP:0002650	HP:0002650	Scoliosis	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0002650	HP:0002650	Scoliosis	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		62
HP:0002650	HP:0002650	Scoliosis	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		1
HP:0002650	HP:0002650	Scoliosis	0	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional		1
HP:0002650	HP:0002650	Scoliosis	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0002650	HP:0002650	Scoliosis	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0002650	HP:0002650	Scoliosis	0	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0002650	HP:0002650	Scoliosis	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0002650	HP:0002650	Scoliosis	0	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome	HP:0040282 - Frequent		166
HP:0002650	HP:0002650	Scoliosis	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.		166
HP:0002650	HP:0002650	Scoliosis	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy	.		78
HP:0002650	HP:0002650	Scoliosis	0	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	HP:0040283 - Occasional		78
HP:0002650	HP:0002650	Scoliosis	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0002650	HP:0002650	Scoliosis	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.		7
HP:0002650	HP:0002650	Scoliosis	0	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040283 - Occasional		49
HP:0002650	HP:0002650	Scoliosis	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0002650	HP:0002650	Scoliosis	0	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4
HP:0002650	HP:0002650	Scoliosis	0	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome	.		5
HP:0002650	HP:0002650	Scoliosis	0	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome	HP:0040283 - Occasional		5
HP:0002650	HP:0002650	Scoliosis	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0002650	HP:0002650	Scoliosis	0	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.		71
HP:0002650	HP:0002650	Scoliosis	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.		16
HP:0002650	HP:0002650	Scoliosis	0	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0002650	HP:0002650	Scoliosis	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040283 - Occasional		36
HP:0002650	HP:0002650	Scoliosis	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.		140
HP:0002650	HP:0002650	Scoliosis	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0002650	HP:0002650	Scoliosis	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.		140
HP:0002650	HP:0002650	Scoliosis	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0002650	HP:0002650	Scoliosis	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0002650	HP:0002650	Scoliosis	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC			2
HP:0002650	HP:0002650	Scoliosis	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional		192
HP:0002650	HP:0002650	Scoliosis	0	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040283 - Occasional		168
HP:0002650	HP:0002650	Scoliosis	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.		168
HP:0002650	HP:0002650	Scoliosis	0	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040283 - Occasional		1
HP:0002650	HP:0002650	Scoliosis	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0002650	HP:0002650	Scoliosis	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0002650	HP:0002650	Scoliosis	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional		61
HP:0002650	HP:0002650	Scoliosis	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.		61
HP:0002650	HP:0002650	Scoliosis	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional		38
HP:0002650	HP:0002650	Scoliosis	0	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2			38
HP:0002650	HP:0002650	Scoliosis	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040282 - Frequent		38
HP:0002650	HP:0002650	Scoliosis	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0002650	HP:0002650	Scoliosis	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0002650	HP:0002650	Scoliosis	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0002650	HP:0002650	Scoliosis	0	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26	HP:0040283 - Occasional		25
HP:0002650	HP:0002650	Scoliosis	0	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	.		25
HP:0002650	HP:0002650	Scoliosis	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome			29
HP:0002650	HP:0002650	Scoliosis	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0002650	HP:0002650	Scoliosis	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		28
HP:0002650	HP:0002650	Scoliosis	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		34
HP:0002650	HP:0002650	Scoliosis	0	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6	.		204
HP:0002650	HP:0002650	Scoliosis	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome	.		22
HP:0002650	HP:0002650	Scoliosis	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0002650	HP:0002650	Scoliosis	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040283 - Occasional		101
HP:0002650	HP:0002650	Scoliosis	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0002650	HP:0002650	Scoliosis	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	HP:0040283 - Occasional		101
HP:0002650	HP:0002650	Scoliosis	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040283 - Occasional		101
HP:0002650	HP:0002650	Scoliosis	0	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome	HP:0040283 - Occasional		5
HP:0002650	HP:0002650	Scoliosis	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0002650	HP:0002650	Scoliosis	0	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	.		46
HP:0002650	HP:0002650	Scoliosis	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0002650	HP:0002650	Scoliosis	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	.		99
HP:0002650	HP:0002650	Scoliosis	0	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII	HP:0040283 - Occasional		49
HP:0002650	HP:0002650	Scoliosis	0	BMPR1B CL E G H	658	1077	ORPHA:93388	Brachydactyly type A1	HP:0040283 - Occasional		90
HP:0002650	HP:0002650	Scoliosis	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0002650	HP:0002650	Scoliosis	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		276
HP:0002650	HP:0002650	Scoliosis	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0002650	HP:0002650	Scoliosis	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0002650	HP:0002650	Scoliosis	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0002650	HP:0002650	Scoliosis	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional		276
HP:0002650	HP:0002650	Scoliosis	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		5769
HP:0002650	HP:0002650	Scoliosis	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		7642
HP:0002650	HP:0002650	Scoliosis	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040281 - Very frequent		7
HP:0002650	HP:0002650	Scoliosis	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome	.		7
HP:0002650	HP:0002650	Scoliosis	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		1086
HP:0002650	HP:0002650	Scoliosis	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	HP:0040283 - Occasional		15
HP:0002650	HP:0002650	Scoliosis	0	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2	HP:0040283 - Occasional		7
HP:0002650	HP:0002650	Scoliosis	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040283 - Occasional		32
HP:0002650	HP:0002650	Scoliosis	0	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF			1
HP:0002650	HP:0002650	Scoliosis	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0002650	HP:0002650	Scoliosis	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0002650	HP:0002650	Scoliosis	0	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent		85
HP:0002650	HP:0002650	Scoliosis	0	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76	HP:0040283 - Occasional		4
HP:0002650	HP:0002650	Scoliosis	0	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76			4
HP:0002650	HP:0002650	Scoliosis	0	CASK CL E G H	8573	1497	OMIM:300422	FG SYNDROME 4; FGS4			118
HP:0002650	HP:0002650	Scoliosis	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0002650	HP:0002650	Scoliosis	0	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type	HP:0040283 - Occasional		118
HP:0002650	HP:0002650	Scoliosis	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0002650	HP:0002650	Scoliosis	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.		48
HP:0002650	HP:0002650	Scoliosis	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		317
HP:0002650	HP:0002650	Scoliosis	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040282 - Frequent		242
HP:0002650	HP:0002650	Scoliosis	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0002650	HP:0002650	Scoliosis	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		1
HP:0002650	HP:0002650	Scoliosis	0	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0002650	HP:0002650	Scoliosis	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		247
HP:0002650	HP:0002650	Scoliosis	0	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		247
HP:0002650	HP:0002650	Scoliosis	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.		147
HP:0002650	HP:0002650	Scoliosis	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent		33
HP:0002650	HP:0002650	Scoliosis	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.		33
HP:0002650	HP:0002650	Scoliosis	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	HP:0040284 - Very rare
HP:0002650	HP:0002650	Scoliosis	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040283 - Occasional		5
HP:0002650	HP:0002650	Scoliosis	0	CCM2 CL E G H	83605	21708	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040282 - Frequent		37
HP:0002650	HP:0002650	Scoliosis	0	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood
HP:0002650	HP:0002650	Scoliosis	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040282 - Frequent
HP:0002650	HP:0002650	Scoliosis	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.		83
HP:0002650	HP:0002650	Scoliosis	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040282 - Frequent		6
HP:0002650	HP:0002650	Scoliosis	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.		6
HP:0002650	HP:0002650	Scoliosis	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0002650	HP:0002650	Scoliosis	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.		9
HP:0002650	HP:0002650	Scoliosis	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0002650	HP:0002650	Scoliosis	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0002650	HP:0002650	Scoliosis	0	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0002650	HP:0002650	Scoliosis	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		405
HP:0002650	HP:0002650	Scoliosis	0	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder	HP:0040283 - Occasional		405
HP:0002650	HP:0002650	Scoliosis	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2			405
HP:0002650	HP:0002650	Scoliosis	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0002650	HP:0002650	Scoliosis	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0002650	HP:0002650	Scoliosis	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		200
HP:0002650	HP:0002650	Scoliosis	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		200
HP:0002650	HP:0002650	Scoliosis	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0002650	HP:0002650	Scoliosis	0	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040283 - Occasional		20
HP:0002650	HP:0002650	Scoliosis	0	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040283 - Occasional		161
HP:0002650	HP:0002650	Scoliosis	0	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0002650	HP:0002650	Scoliosis	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		5
HP:0002650	HP:0002650	Scoliosis	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		7
HP:0002650	HP:0002650	Scoliosis	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		7
HP:0002650	HP:0002650	Scoliosis	0	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040283 - Occasional		146
HP:0002650	HP:0002650	Scoliosis	0	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		342
HP:0002650	HP:0002650	Scoliosis	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		90
HP:0002650	HP:0002650	Scoliosis	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		90
HP:0002650	HP:0002650	Scoliosis	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0002650	HP:0002650	Scoliosis	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7			35
HP:0002650	HP:0002650	Scoliosis	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		35
HP:0002650	HP:0002650	Scoliosis	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0002650	HP:0002650	Scoliosis	0	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	HP:0040284 - Very rare		2
HP:0002650	HP:0002650	Scoliosis	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.		515
HP:0002650	HP:0002650	Scoliosis	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional		515
HP:0002650	HP:0002650	Scoliosis	0	CHKA CL E G H	1119	1937	OMIM:620023
HP:0002650	HP:0002650	Scoliosis	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0002650	HP:0002650	Scoliosis	0	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040283 - Occasional		4
HP:0002650	HP:0002650	Scoliosis	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.		74
HP:0002650	HP:0002650	Scoliosis	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		74
HP:0002650	HP:0002650	Scoliosis	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		53
HP:0002650	HP:0002650	Scoliosis	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		88
HP:0002650	HP:0002650	Scoliosis	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		139
HP:0002650	HP:0002650	Scoliosis	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040281 - Very frequent		68
HP:0002650	HP:0002650	Scoliosis	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.		68
HP:0002650	HP:0002650	Scoliosis	0	CHST11 CL E G H	50515	17422	OMIM:618167	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits	.		1
HP:0002650	HP:0002650	Scoliosis	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0002650	HP:0002650	Scoliosis	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		27
HP:0002650	HP:0002650	Scoliosis	0	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia	HP:0040281 - Very frequent		165
HP:0002650	HP:0002650	Scoliosis	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0002650	HP:0002650	Scoliosis	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.		165
HP:0002650	HP:0002650	Scoliosis	0	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45			39
HP:0002650	HP:0002650	Scoliosis	0	CLCF1 CL E G H	23529	17412	OMIM:610313	Cold-Induced sweating syndrome 2			6
HP:0002650	HP:0002650	Scoliosis	0	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent		6
HP:0002650	HP:0002650	Scoliosis	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040283 - Occasional		45
HP:0002650	HP:0002650	Scoliosis	0	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome	HP:0040283 - Occasional		45
HP:0002650	HP:0002650	Scoliosis	0	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32			4
HP:0002650	HP:0002650	Scoliosis	0	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome			4
HP:0002650	HP:0002650	Scoliosis	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10			7
HP:0002650	HP:0002650	Scoliosis	0	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS			2
HP:0002650	HP:0002650	Scoliosis	0	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0002650	HP:0002650	Scoliosis	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0002650	HP:0002650	Scoliosis	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.		52
HP:0002650	HP:0002650	Scoliosis	0	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0002650	HP:0002650	Scoliosis	0	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type			79
HP:0002650	HP:0002650	Scoliosis	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		65
HP:0002650	HP:0002650	Scoliosis	0	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		65
HP:0002650	HP:0002650	Scoliosis	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional		65
HP:0002650	HP:0002650	Scoliosis	0	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2			65
HP:0002650	HP:0002650	Scoliosis	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		6
HP:0002650	HP:0002650	Scoliosis	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0002650	HP:0002650	Scoliosis	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040282 - Frequent		373
HP:0002650	HP:0002650	Scoliosis	0	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease	HP:0040283 - Occasional		373
HP:0002650	HP:0002650	Scoliosis	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		373
HP:0002650	HP:0002650	Scoliosis	0	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1			373
HP:0002650	HP:0002650	Scoliosis	0	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1	.		373
HP:0002650	HP:0002650	Scoliosis	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.		373
HP:0002650	HP:0002650	Scoliosis	0	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV	.		373
HP:0002650	HP:0002650	Scoliosis	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040282 - Frequent		243
HP:0002650	HP:0002650	Scoliosis	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0002650	HP:0002650	Scoliosis	0	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2	.		243
HP:0002650	HP:0002650	Scoliosis	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.		243
HP:0002650	HP:0002650	Scoliosis	0	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV	.		243
HP:0002650	HP:0002650	Scoliosis	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional		3
HP:0002650	HP:0002650	Scoliosis	0	COL27A1 CL E G H	85301	22986	OMIM:615155	Steel syndrome	.		1
HP:0002650	HP:0002650	Scoliosis	0	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type	.		284
HP:0002650	HP:0002650	Scoliosis	0	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis	HP:0040281 - Very frequent		284
HP:0002650	HP:0002650	Scoliosis	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0002650	HP:0002650	Scoliosis	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type			284
HP:0002650	HP:0002650	Scoliosis	0	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type	.		284
HP:0002650	HP:0002650	Scoliosis	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040281 - Very frequent		284
HP:0002650	HP:0002650	Scoliosis	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita			284
HP:0002650	HP:0002650	Scoliosis	0	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type			284
HP:0002650	HP:0002650	Scoliosis	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040282 - Frequent		284
HP:0002650	HP:0002650	Scoliosis	0	COL2A1 CL E G H	1280	2200	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type	.		284
HP:0002650	HP:0002650	Scoliosis	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040282 - Frequent		284
HP:0002650	HP:0002650	Scoliosis	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I			284
HP:0002650	HP:0002650	Scoliosis	0	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria	HP:0040282 - Frequent		749
HP:0002650	HP:0002650	Scoliosis	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		660
HP:0002650	HP:0002650	Scoliosis	0	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF			660
HP:0002650	HP:0002650	Scoliosis	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		325
HP:0002650	HP:0002650	Scoliosis	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		442
HP:0002650	HP:0002650	Scoliosis	0	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		442
HP:0002650	HP:0002650	Scoliosis	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1			442
HP:0002650	HP:0002650	Scoliosis	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		478
HP:0002650	HP:0002650	Scoliosis	0	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		478
HP:0002650	HP:0002650	Scoliosis	0	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive			478
HP:0002650	HP:0002650	Scoliosis	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1			478
HP:0002650	HP:0002650	Scoliosis	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		702
HP:0002650	HP:0002650	Scoliosis	0	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		702
HP:0002650	HP:0002650	Scoliosis	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1			702
HP:0002650	HP:0002650	Scoliosis	0	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent		3
HP:0002650	HP:0002650	Scoliosis	0	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent		9
HP:0002650	HP:0002650	Scoliosis	0	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5	.		90
HP:0002650	HP:0002650	Scoliosis	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional		90
HP:0002650	HP:0002650	Scoliosis	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia			89
HP:0002650	HP:0002650	Scoliosis	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040283 - Occasional		89
HP:0002650	HP:0002650	Scoliosis	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0002650	HP:0002650	Scoliosis	0	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7	HP:0040283 - Occasional		24
HP:0002650	HP:0002650	Scoliosis	0	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0002650	HP:0002650	Scoliosis	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0002650	HP:0002650	Scoliosis	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		1
HP:0002650	HP:0002650	Scoliosis	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0002650	HP:0002650	Scoliosis	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0002650	HP:0002650	Scoliosis	0	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent		24
HP:0002650	HP:0002650	Scoliosis	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1			24
HP:0002650	HP:0002650	Scoliosis	0	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability
HP:0002650	HP:0002650	Scoliosis	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.		124
HP:0002650	HP:0002650	Scoliosis	0	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent
HP:0002650	HP:0002650	Scoliosis	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0002650	HP:0002650	Scoliosis	0	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	HP:0040283 - Occasional		12
HP:0002650	HP:0002650	Scoliosis	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		57
HP:0002650	HP:0002650	Scoliosis	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		2
HP:0002650	HP:0002650	Scoliosis	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0002650	HP:0002650	Scoliosis	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.		160
HP:0002650	HP:0002650	Scoliosis	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		160
HP:0002650	HP:0002650	Scoliosis	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy			17
HP:0002650	HP:0002650	Scoliosis	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040283 - Occasional		17
HP:0002650	HP:0002650	Scoliosis	0	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects			88
HP:0002650	HP:0002650	Scoliosis	0	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p	HP:0040282 - Frequent		15
HP:0002650	HP:0002650	Scoliosis	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0002650	HP:0002650	Scoliosis	0	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS	.		39
HP:0002650	HP:0002650	Scoliosis	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040282 - Frequent		38
HP:0002650	HP:0002650	Scoliosis	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040283 - Occasional		127
HP:0002650	HP:0002650	Scoliosis	0	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A	HP:0040284 - Very rare		57
HP:0002650	HP:0002650	Scoliosis	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive			57
HP:0002650	HP:0002650	Scoliosis	0	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2	.		2
HP:0002650	HP:0002650	Scoliosis	0	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2			36
HP:0002650	HP:0002650	Scoliosis	0	DCC CL E G H	1630	2701	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis	HP:0040281 - Very frequent		36
HP:0002650	HP:0002650	Scoliosis	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.		27
HP:0002650	HP:0002650	Scoliosis	0	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation	HP:0040283 - Occasional		145
HP:0002650	HP:0002650	Scoliosis	0	DDHD1 CL E G H	80821	19714	ORPHA:101008	Autosomal recessive spastic paraplegia type 28	HP:0040282 - Frequent		35
HP:0002650	HP:0002650	Scoliosis	0	DDHD1 CL E G H	80821	19714	OMIM:609340	Spastic paraplegia 28, autosomal recessive	.		35
HP:0002650	HP:0002650	Scoliosis	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.		45
HP:0002650	HP:0002650	Scoliosis	0	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040282 - Frequent
HP:0002650	HP:0002650	Scoliosis	0	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0002650	HP:0002650	Scoliosis	0	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102			57
HP:0002650	HP:0002650	Scoliosis	0	DDX3X CL E G H	1654	2745	ORPHA:457260	X-linked intellectual disability-hypotonia-movement disorder syndrome	HP:0040283 - Occasional		57
HP:0002650	HP:0002650	Scoliosis	0	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040283 - Occasional		2
HP:0002650	HP:0002650	Scoliosis	0	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V	HP:0040283 - Occasional		2
HP:0002650	HP:0002650	Scoliosis	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0002650	HP:0002650	Scoliosis	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		33
HP:0002650	HP:0002650	Scoliosis	0	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18	.
HP:0002650	HP:0002650	Scoliosis	0	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy			263
HP:0002650	HP:0002650	Scoliosis	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional		159
HP:0002650	HP:0002650	Scoliosis	0	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0002650	HP:0002650	Scoliosis	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0002650	HP:0002650	Scoliosis	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0002650	HP:0002650	Scoliosis	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		22
HP:0002650	HP:0002650	Scoliosis	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		22
HP:0002650	HP:0002650	Scoliosis	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0002650	HP:0002650	Scoliosis	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		65
HP:0002650	HP:0002650	Scoliosis	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0002650	HP:0002650	Scoliosis	0	DLG4 CL E G H	1742	2903	OMIM:618793	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62			2
HP:0002650	HP:0002650	Scoliosis	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0002650	HP:0002650	Scoliosis	0	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0002650	HP:0002650	Scoliosis	0	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional		1
HP:0002650	HP:0002650	Scoliosis	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0002650	HP:0002650	Scoliosis	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0002650	HP:0002650	Scoliosis	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		3
HP:0002650	HP:0002650	Scoliosis	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		3
HP:0002650	HP:0002650	Scoliosis	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0002650	HP:0002650	Scoliosis	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent		45
HP:0002650	HP:0002650	Scoliosis	0	DLL3 CL E G H	10683	2909	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0002650	HP:0002650	Scoliosis	0	DLX5 CL E G H	1749	2918	OMIM:220600	Split-Hand/foot malformation 1 with sensorineural hearing loss	HP:0040283 - Occasional		3
HP:0002650	HP:0002650	Scoliosis	0	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent		1496
HP:0002650	HP:0002650	Scoliosis	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy	.		1496
HP:0002650	HP:0002650	Scoliosis	0	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers			1496
HP:0002650	HP:0002650	Scoliosis	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0002650	HP:0002650	Scoliosis	0	DNA2 CL E G H	1763	2939	OMIM:615807	Seckel syndrome 8			41
HP:0002650	HP:0002650	Scoliosis	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent		6
HP:0002650	HP:0002650	Scoliosis	0	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040283 - Occasional		94
HP:0002650	HP:0002650	Scoliosis	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome			44
HP:0002650	HP:0002650	Scoliosis	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome	HP:0040283 - Occasional		44
HP:0002650	HP:0002650	Scoliosis	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent		91
HP:0002650	HP:0002650	Scoliosis	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		91
HP:0002650	HP:0002650	Scoliosis	0	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		38
HP:0002650	HP:0002650	Scoliosis	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional		38
HP:0002650	HP:0002650	Scoliosis	0	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates			38
HP:0002650	HP:0002650	Scoliosis	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0002650	HP:0002650	Scoliosis	0	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu	.		26
HP:0002650	HP:0002650	Scoliosis	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040282 - Frequent		26
HP:0002650	HP:0002650	Scoliosis	0	DPP6 CL E G H	1804	3010	OMIM:616311	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33			18
HP:0002650	HP:0002650	Scoliosis	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0002650	HP:0002650	Scoliosis	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		13
HP:0002650	HP:0002650	Scoliosis	0	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23			13
HP:0002650	HP:0002650	Scoliosis	0	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23			13
HP:0002650	HP:0002650	Scoliosis	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		14
HP:0002650	HP:0002650	Scoliosis	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0002650	HP:0002650	Scoliosis	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		5
HP:0002650	HP:0002650	Scoliosis	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0002650	HP:0002650	Scoliosis	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0002650	HP:0002650	Scoliosis	0	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1	.		65
HP:0002650	HP:0002650	Scoliosis	0	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	.		304
HP:0002650	HP:0002650	Scoliosis	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional		134
HP:0002650	HP:0002650	Scoliosis	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040283 - Occasional		134
HP:0002650	HP:0002650	Scoliosis	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.		51
HP:0002650	HP:0002650	Scoliosis	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0002650	HP:0002650	Scoliosis	0	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D	HP:0040283 - Occasional		37
HP:0002650	HP:0002650	Scoliosis	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0002650	HP:0002650	Scoliosis	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040283 - Occasional		4
HP:0002650	HP:0002650	Scoliosis	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040282 - Frequent		27
HP:0002650	HP:0002650	Scoliosis	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			58
HP:0002650	HP:0002650	Scoliosis	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0002650	HP:0002650	Scoliosis	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		172
HP:0002650	HP:0002650	Scoliosis	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0002650	HP:0002650	Scoliosis	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0002650	HP:0002650	Scoliosis	0	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia	HP:0040282 - Frequent		133
HP:0002650	HP:0002650	Scoliosis	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.		133
HP:0002650	HP:0002650	Scoliosis	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0002650	HP:0002650	Scoliosis	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	HP:0040282 - Frequent		5
HP:0002650	HP:0002650	Scoliosis	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		107
HP:0002650	HP:0002650	Scoliosis	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional		151
HP:0002650	HP:0002650	Scoliosis	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0002650	HP:0002650	Scoliosis	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0002650	HP:0002650	Scoliosis	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		20
HP:0002650	HP:0002650	Scoliosis	0	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0002650	HP:0002650	Scoliosis	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent		158
HP:0002650	HP:0002650	Scoliosis	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		158
HP:0002650	HP:0002650	Scoliosis	0	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F	HP:0040283 - Occasional		158
HP:0002650	HP:0002650	Scoliosis	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.		158
HP:0002650	HP:0002650	Scoliosis	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0002650	HP:0002650	Scoliosis	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent		199
HP:0002650	HP:0002650	Scoliosis	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		199
HP:0002650	HP:0002650	Scoliosis	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		199
HP:0002650	HP:0002650	Scoliosis	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent		55
HP:0002650	HP:0002650	Scoliosis	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		55
HP:0002650	HP:0002650	Scoliosis	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		55
HP:0002650	HP:0002650	Scoliosis	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62			2
HP:0002650	HP:0002650	Scoliosis	0	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive			2
HP:0002650	HP:0002650	Scoliosis	0	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive	.		18
HP:0002650	HP:0002650	Scoliosis	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040283 - Occasional		36
HP:0002650	HP:0002650	Scoliosis	0	ERMARD CL E G H	55780	21056	ORPHA:98892	Periventricular nodular heterotopia	HP:0040281 - Very frequent		36
HP:0002650	HP:0002650	Scoliosis	0	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome	HP:0040282 - Frequent		92
HP:0002650	HP:0002650	Scoliosis	0	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040282 - Frequent		3
HP:0002650	HP:0002650	Scoliosis	0	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	.		3
HP:0002650	HP:0002650	Scoliosis	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0002650	HP:0002650	Scoliosis	0	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome	.		102
HP:0002650	HP:0002650	Scoliosis	0	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome	HP:0040282 - Frequent		102
HP:0002650	HP:0002650	Scoliosis	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities			3
HP:0002650	HP:0002650	Scoliosis	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040283 - Occasional		81
HP:0002650	HP:0002650	Scoliosis	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.		81
HP:0002650	HP:0002650	Scoliosis	0	FAM111B CL E G H	374393	24200	OMIM:615704	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis	HP:0040283 - Occasional		6
HP:0002650	HP:0002650	Scoliosis	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		340
HP:0002650	HP:0002650	Scoliosis	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		58
HP:0002650	HP:0002650	Scoliosis	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		410
HP:0002650	HP:0002650	Scoliosis	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		147
HP:0002650	HP:0002650	Scoliosis	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		73
HP:0002650	HP:0002650	Scoliosis	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		87
HP:0002650	HP:0002650	Scoliosis	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		73
HP:0002650	HP:0002650	Scoliosis	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		157
HP:0002650	HP:0002650	Scoliosis	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		53
HP:0002650	HP:0002650	Scoliosis	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		107
HP:0002650	HP:0002650	Scoliosis	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77			36
HP:0002650	HP:0002650	Scoliosis	0	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0002650	HP:0002650	Scoliosis	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002650	HP:0002650	Scoliosis	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.		114
HP:0002650	HP:0002650	Scoliosis	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0002650	HP:0002650	Scoliosis	0	FBLN5 CL E G H	10516	3602	OMIM:614434	Cutis laxa, autosomal dominant 2	.		63
HP:0002650	HP:0002650	Scoliosis	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		1361
HP:0002650	HP:0002650	Scoliosis	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0002650	HP:0002650	Scoliosis	0	FBN1 CL E G H	2200	3603	OMIM:604308	MASS SYNDROME			1361
HP:0002650	HP:0002650	Scoliosis	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent		1361
HP:0002650	HP:0002650	Scoliosis	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant	.		1361
HP:0002650	HP:0002650	Scoliosis	0	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly	HP:0040281 - Very frequent		655
HP:0002650	HP:0002650	Scoliosis	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0002650	HP:0002650	Scoliosis	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	HP:0040283 - Occasional		384
HP:0002650	HP:0002650	Scoliosis	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002650	HP:0002650	Scoliosis	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome	.		62
HP:0002650	HP:0002650	Scoliosis	0	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H			158
HP:0002650	HP:0002650	Scoliosis	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare		17
HP:0002650	HP:0002650	Scoliosis	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0002650	HP:0002650	Scoliosis	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0002650	HP:0002650	Scoliosis	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		17
HP:0002650	HP:0002650	Scoliosis	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		17
HP:0002650	HP:0002650	Scoliosis	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0002650	HP:0002650	Scoliosis	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		172
HP:0002650	HP:0002650	Scoliosis	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		172
HP:0002650	HP:0002650	Scoliosis	0	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia	HP:0040283 - Occasional		172
HP:0002650	HP:0002650	Scoliosis	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		172
HP:0002650	HP:0002650	Scoliosis	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare		175
HP:0002650	HP:0002650	Scoliosis	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		175
HP:0002650	HP:0002650	Scoliosis	0	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome	.		145
HP:0002650	HP:0002650	Scoliosis	0	FGFR3 CL E G H	2261	3690	ORPHA:85164	Camptodactyly-tall stature-scoliosis-hearing loss syndrome	HP:0040281 - Very frequent		145
HP:0002650	HP:0002650	Scoliosis	0	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia	HP:0040283 - Occasional		145
HP:0002650	HP:0002650	Scoliosis	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare		145
HP:0002650	HP:0002650	Scoliosis	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		145
HP:0002650	HP:0002650	Scoliosis	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0002650	HP:0002650	Scoliosis	0	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset	.		68
HP:0002650	HP:0002650	Scoliosis	0	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy			68
HP:0002650	HP:0002650	Scoliosis	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.		68
HP:0002650	HP:0002650	Scoliosis	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		68
HP:0002650	HP:0002650	Scoliosis	0	FKBP10 CL E G H	60681	18169	ORPHA:2771	Bruck syndrome	HP:0040282 - Frequent		61
HP:0002650	HP:0002650	Scoliosis	0	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1	.		61
HP:0002650	HP:0002650	Scoliosis	0	FKBP10 CL E G H	60681	18169	ORPHA:1149	Kuskokwim syndrome	HP:0040283 - Occasional		61
HP:0002650	HP:0002650	Scoliosis	0	FKBP10 CL E G H	60681	18169	OMIM:610968	Osteogenesis imperfecta, type XI	.		61
HP:0002650	HP:0002650	Scoliosis	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0002650	HP:0002650	Scoliosis	0	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency			13
HP:0002650	HP:0002650	Scoliosis	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		157
HP:0002650	HP:0002650	Scoliosis	0	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			157
HP:0002650	HP:0002650	Scoliosis	0	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9	HP:0040283 - Occasional		157
HP:0002650	HP:0002650	Scoliosis	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.		157
HP:0002650	HP:0002650	Scoliosis	0	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.		157
HP:0002650	HP:0002650	Scoliosis	0	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			184
HP:0002650	HP:0002650	Scoliosis	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.		184
HP:0002650	HP:0002650	Scoliosis	0	FLAD1 CL E G H	80308	24671	OMIM:255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	HP:0040283 - Occasional		18
HP:0002650	HP:0002650	Scoliosis	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0002650	HP:0002650	Scoliosis	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040283 - Occasional		8
HP:0002650	HP:0002650	Scoliosis	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent
HP:0002650	HP:0002650	Scoliosis	0	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia			493
HP:0002650	HP:0002650	Scoliosis	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040281 - Very frequent		493
HP:0002650	HP:0002650	Scoliosis	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.		493
HP:0002650	HP:0002650	Scoliosis	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0002650	HP:0002650	Scoliosis	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040282 - Frequent		493
HP:0002650	HP:0002650	Scoliosis	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040283 - Occasional		493
HP:0002650	HP:0002650	Scoliosis	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.		493
HP:0002650	HP:0002650	Scoliosis	0	FLNA CL E G H	2316	3754	ORPHA:98892	Periventricular nodular heterotopia	HP:0040281 - Very frequent		493
HP:0002650	HP:0002650	Scoliosis	0	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0002650	HP:0002650	Scoliosis	0	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040283 - Occasional		233
HP:0002650	HP:0002650	Scoliosis	0	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III	.		233
HP:0002650	HP:0002650	Scoliosis	0	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome	HP:0040283 - Occasional		233
HP:0002650	HP:0002650	Scoliosis	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.		233
HP:0002650	HP:0002650	Scoliosis	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.		233
HP:0002650	HP:0002650	Scoliosis	0	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent
HP:0002650	HP:0002650	Scoliosis	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0002650	HP:0002650	Scoliosis	0	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome	HP:0040283 - Occasional		111
HP:0002650	HP:0002650	Scoliosis	0	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome	.		30
HP:0002650	HP:0002650	Scoliosis	0	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040284 - Very rare		30
HP:0002650	HP:0002650	Scoliosis	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040282 - Frequent		9
HP:0002650	HP:0002650	Scoliosis	0	FN1 CL E G H	2335	3778	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type	.		9
HP:0002650	HP:0002650	Scoliosis	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		23
HP:0002650	HP:0002650	Scoliosis	0	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040282 - Frequent		177
HP:0002650	HP:0002650	Scoliosis	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant	.		177
HP:0002650	HP:0002650	Scoliosis	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0002650	HP:0002650	Scoliosis	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0002650	HP:0002650	Scoliosis	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		48
HP:0002650	HP:0002650	Scoliosis	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		48
HP:0002650	HP:0002650	Scoliosis	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0002650	HP:0002650	Scoliosis	0	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19	.		61
HP:0002650	HP:0002650	Scoliosis	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.		43
HP:0002650	HP:0002650	Scoliosis	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		105
HP:0002650	HP:0002650	Scoliosis	0	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1			3
HP:0002650	HP:0002650	Scoliosis	0	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence	HP:0040282 - Frequent		3
HP:0002650	HP:0002650	Scoliosis	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040282 - Frequent		18
HP:0002650	HP:0002650	Scoliosis	0	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1	.		18
HP:0002650	HP:0002650	Scoliosis	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		5
HP:0002650	HP:0002650	Scoliosis	0	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59	.		5
HP:0002650	HP:0002650	Scoliosis	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0002650	HP:0002650	Scoliosis	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0002650	HP:0002650	Scoliosis	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.		123
HP:0002650	HP:0002650	Scoliosis	0	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy	HP:0040282 - Frequent		121
HP:0002650	HP:0002650	Scoliosis	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.		121
HP:0002650	HP:0002650	Scoliosis	0	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D	.
HP:0002650	HP:0002650	Scoliosis	0	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0002650	HP:0002650	Scoliosis	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0002650	HP:0002650	Scoliosis	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0002650	HP:0002650	Scoliosis	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		2
HP:0002650	HP:0002650	Scoliosis	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		2
HP:0002650	HP:0002650	Scoliosis	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0002650	HP:0002650	Scoliosis	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0002650	HP:0002650	Scoliosis	0	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity	HP:0040283 - Occasional		30
HP:0002650	HP:0002650	Scoliosis	0	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46	HP:0040283 - Occasional		30
HP:0002650	HP:0002650	Scoliosis	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	HP:0040283 - Occasional		30
HP:0002650	HP:0002650	Scoliosis	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional		86
HP:0002650	HP:0002650	Scoliosis	0	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia	.		86
HP:0002650	HP:0002650	Scoliosis	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0002650	HP:0002650	Scoliosis	0	GDAP1 CL E G H	54332	15968	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K			108
HP:0002650	HP:0002650	Scoliosis	0	GDAP1 CL E G H	54332	15968	OMIM:608340	Charcot-Marie-Tooth disease, recessive intermediate A	.		108
HP:0002650	HP:0002650	Scoliosis	0	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A			108
HP:0002650	HP:0002650	Scoliosis	0	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040282 - Frequent		7
HP:0002650	HP:0002650	Scoliosis	0	GDF3 CL E G H	9573	4218	OMIM:613702	Klippel-Feil syndrome 3, autosomal dominant			7
HP:0002650	HP:0002650	Scoliosis	0	GDF5 CL E G H	8200	4220	ORPHA:968	Acromesomelic dysplasia, Hunter-Thompson type	HP:0040282 - Frequent		52
HP:0002650	HP:0002650	Scoliosis	0	GDF5 CL E G H	8200	4220	ORPHA:93388	Brachydactyly type A1	HP:0040283 - Occasional		52
HP:0002650	HP:0002650	Scoliosis	0	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040282 - Frequent		64
HP:0002650	HP:0002650	Scoliosis	0	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant			64
HP:0002650	HP:0002650	Scoliosis	0	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I			188
HP:0002650	HP:0002650	Scoliosis	0	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II			188
HP:0002650	HP:0002650	Scoliosis	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional		43
HP:0002650	HP:0002650	Scoliosis	0	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		128
HP:0002650	HP:0002650	Scoliosis	0	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0002650	HP:0002650	Scoliosis	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0002650	HP:0002650	Scoliosis	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0002650	HP:0002650	Scoliosis	0	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1	HP:0040283 - Occasional		107
HP:0002650	HP:0002650	Scoliosis	0	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia	HP:0040282 - Frequent		107
HP:0002650	HP:0002650	Scoliosis	0	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive	HP:0040282 - Frequent		37
HP:0002650	HP:0002650	Scoliosis	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I	.		120
HP:0002650	HP:0002650	Scoliosis	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II			120
HP:0002650	HP:0002650	Scoliosis	0	GLB1 CL E G H	2720	4298	OMIM:230650	Gm1-gangliosidosis, type III	.		120
HP:0002650	HP:0002650	Scoliosis	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.		120
HP:0002650	HP:0002650	Scoliosis	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.		45
HP:0002650	HP:0002650	Scoliosis	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0002650	HP:0002650	Scoliosis	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0002650	HP:0002650	Scoliosis	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		173
HP:0002650	HP:0002650	Scoliosis	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		173
HP:0002650	HP:0002650	Scoliosis	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0002650	HP:0002650	Scoliosis	0	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0002650	HP:0002650	Scoliosis	0	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0002650	HP:0002650	Scoliosis	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		34
HP:0002650	HP:0002650	Scoliosis	0	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		34
HP:0002650	HP:0002650	Scoliosis	0	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional		16
HP:0002650	HP:0002650	Scoliosis	0	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei	HP:0040283 - Occasional		7
HP:0002650	HP:0002650	Scoliosis	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040282 - Frequent		101
HP:0002650	HP:0002650	Scoliosis	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002650	HP:0002650	Scoliosis	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.		173
HP:0002650	HP:0002650	Scoliosis	0	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2	.		58
HP:0002650	HP:0002650	Scoliosis	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0002650	HP:0002650	Scoliosis	0	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta	.		240
HP:0002650	HP:0002650	Scoliosis	0	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma	.		57
HP:0002650	HP:0002650	Scoliosis	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0002650	HP:0002650	Scoliosis	0	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica	HP:0040282 - Frequent		52
HP:0002650	HP:0002650	Scoliosis	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum			52
HP:0002650	HP:0002650	Scoliosis	0	GOSR2 CL E G H	9570	4431	OMIM:614018	Epilepsy, progressive myoclonic, 6	.		88
HP:0002650	HP:0002650	Scoliosis	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0002650	HP:0002650	Scoliosis	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent		73
HP:0002650	HP:0002650	Scoliosis	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0002650	HP:0002650	Scoliosis	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0002650	HP:0002650	Scoliosis	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002650	HP:0002650	Scoliosis	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional		30
HP:0002650	HP:0002650	Scoliosis	0	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	.		108
HP:0002650	HP:0002650	Scoliosis	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0002650	HP:0002650	Scoliosis	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0002650	HP:0002650	Scoliosis	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0002650	HP:0002650	Scoliosis	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome	.
HP:0002650	HP:0002650	Scoliosis	0	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7	HP:0040281 - Very frequent		54
HP:0002650	HP:0002650	Scoliosis	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.		54
HP:0002650	HP:0002650	Scoliosis	0	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia
HP:0002650	HP:0002650	Scoliosis	0	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0002650	HP:0002650	Scoliosis	0	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia	HP:0040281 - Very frequent		4
HP:0002650	HP:0002650	Scoliosis	0	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0002650	HP:0002650	Scoliosis	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0002650	HP:0002650	Scoliosis	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0002650	HP:0002650	Scoliosis	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0002650	HP:0002650	Scoliosis	0	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures	HP:0040283 - Occasional		10
HP:0002650	HP:0002650	Scoliosis	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040282 - Frequent		10
HP:0002650	HP:0002650	Scoliosis	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0002650	HP:0002650	Scoliosis	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.		16
HP:0002650	HP:0002650	Scoliosis	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0002650	HP:0002650	Scoliosis	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0002650	HP:0002650	Scoliosis	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent		10
HP:0002650	HP:0002650	Scoliosis	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0002650	HP:0002650	Scoliosis	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia			12
HP:0002650	HP:0002650	Scoliosis	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0002650	HP:0002650	Scoliosis	0	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G	HP:0040283 - Occasional		11
HP:0002650	HP:0002650	Scoliosis	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0002650	HP:0002650	Scoliosis	0	HK1 CL E G H	3098	4922	OMIM:605285	Neuropathy, hereditary motor and sensory, Russe type	HP:0040283 - Occasional		11
HP:0002650	HP:0002650	Scoliosis	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0002650	HP:0002650	Scoliosis	0	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13			2
HP:0002650	HP:0002650	Scoliosis	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0002650	HP:0002650	Scoliosis	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0002650	HP:0002650	Scoliosis	0	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.		8
HP:0002650	HP:0002650	Scoliosis	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040282 - Frequent		8
HP:0002650	HP:0002650	Scoliosis	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040282 - Frequent		8
HP:0002650	HP:0002650	Scoliosis	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0002650	HP:0002650	Scoliosis	0	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040283 - Occasional		39
HP:0002650	HP:0002650	Scoliosis	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0002650	HP:0002650	Scoliosis	0	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional		55
HP:0002650	HP:0002650	Scoliosis	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0002650	HP:0002650	Scoliosis	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			113
HP:0002650	HP:0002650	Scoliosis	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0002650	HP:0002650	Scoliosis	0	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1	.		98
HP:0002650	HP:0002650	Scoliosis	0	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L	.		38
HP:0002650	HP:0002650	Scoliosis	0	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13	HP:0040283 - Occasional		46
HP:0002650	HP:0002650	Scoliosis	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0002650	HP:0002650	Scoliosis	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent		345
HP:0002650	HP:0002650	Scoliosis	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0002650	HP:0002650	Scoliosis	0	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0002650	HP:0002650	Scoliosis	0	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome	.		12
HP:0002650	HP:0002650	Scoliosis	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.		98
HP:0002650	HP:0002650	Scoliosis	0	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX			28
HP:0002650	HP:0002650	Scoliosis	0	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5	.
HP:0002650	HP:0002650	Scoliosis	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		31
HP:0002650	HP:0002650	Scoliosis	0	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	HP:0040281 - Very frequent		25
HP:0002650	HP:0002650	Scoliosis	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.		25
HP:0002650	HP:0002650	Scoliosis	0	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome	HP:0040282 - Frequent		15
HP:0002650	HP:0002650	Scoliosis	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0002650	HP:0002650	Scoliosis	0	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome	HP:0040282 - Frequent		29
HP:0002650	HP:0002650	Scoliosis	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040282 - Frequent		115
HP:0002650	HP:0002650	Scoliosis	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome	.		115
HP:0002650	HP:0002650	Scoliosis	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		28
HP:0002650	HP:0002650	Scoliosis	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0002650	HP:0002650	Scoliosis	0	IFT172 CL E G H	26160	30391	OMIM:616394	Retinitis pigmentosa 71			48
HP:0002650	HP:0002650	Scoliosis	0	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	HP:0040281 - Very frequent		5
HP:0002650	HP:0002650	Scoliosis	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0002650	HP:0002650	Scoliosis	0	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia	HP:0040281 - Very frequent		9
HP:0002650	HP:0002650	Scoliosis	0	IGHMBP2 CL E G H	3508	5542	OMIM:616155	Charcot-Marie-Tooth disease, axonal, type 2S	HP:0040283 - Occasional		209
HP:0002650	HP:0002650	Scoliosis	0	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia	HP:0040283 - Occasional		44
HP:0002650	HP:0002650	Scoliosis	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0002650	HP:0002650	Scoliosis	0	IHH CL E G H	3549	5956	ORPHA:93388	Brachydactyly type A1	HP:0040283 - Occasional		44
HP:0002650	HP:0002650	Scoliosis	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040282 - Frequent		52
HP:0002650	HP:0002650	Scoliosis	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti			52
HP:0002650	HP:0002650	Scoliosis	0	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0002650	HP:0002650	Scoliosis	0	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0002650	HP:0002650	Scoliosis	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0002650	HP:0002650	Scoliosis	0	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0002650	HP:0002650	Scoliosis	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional		1
HP:0002650	HP:0002650	Scoliosis	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		111
HP:0002650	HP:0002650	Scoliosis	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		111
HP:0002650	HP:0002650	Scoliosis	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		111
HP:0002650	HP:0002650	Scoliosis	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent		7
HP:0002650	HP:0002650	Scoliosis	0	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	.		7
HP:0002650	HP:0002650	Scoliosis	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	.		18
HP:0002650	HP:0002650	Scoliosis	0	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0002650	HP:0002650	Scoliosis	0	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent
HP:0002650	HP:0002650	Scoliosis	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0002650	HP:0002650	Scoliosis	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0002650	HP:0002650	Scoliosis	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		119
HP:0002650	HP:0002650	Scoliosis	0	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome	HP:0040282 - Frequent		99
HP:0002650	HP:0002650	Scoliosis	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0002650	HP:0002650	Scoliosis	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0002650	HP:0002650	Scoliosis	0	ITGA7 CL E G H	3679	6143	OMIM:613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	.		127
HP:0002650	HP:0002650	Scoliosis	0	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0002650	HP:0002650	Scoliosis	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0002650	HP:0002650	Scoliosis	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0002650	HP:0002650	Scoliosis	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0002650	HP:0002650	Scoliosis	0	JPH1 CL E G H	56704	14201	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K			1
HP:0002650	HP:0002650	Scoliosis	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional		283
HP:0002650	HP:0002650	Scoliosis	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0002650	HP:0002650	Scoliosis	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional		283
HP:0002650	HP:0002650	Scoliosis	0	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		80
HP:0002650	HP:0002650	Scoliosis	0	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1	HP:0040283 - Occasional		145
HP:0002650	HP:0002650	Scoliosis	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0002650	HP:0002650	Scoliosis	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.		13
HP:0002650	HP:0002650	Scoliosis	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.		193
HP:0002650	HP:0002650	Scoliosis	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional		193
HP:0002650	HP:0002650	Scoliosis	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional		128
HP:0002650	HP:0002650	Scoliosis	0	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome	.		3
HP:0002650	HP:0002650	Scoliosis	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent		3
HP:0002650	HP:0002650	Scoliosis	0	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia	HP:0040281 - Very frequent		1
HP:0002650	HP:0002650	Scoliosis	0	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0002650	HP:0002650	Scoliosis	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent		53
HP:0002650	HP:0002650	Scoliosis	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.		53
HP:0002650	HP:0002650	Scoliosis	0	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		24
HP:0002650	HP:0002650	Scoliosis	0	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	.		14
HP:0002650	HP:0002650	Scoliosis	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040283 - Occasional		14
HP:0002650	HP:0002650	Scoliosis	0	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040284 - Very rare		93
HP:0002650	HP:0002650	Scoliosis	0	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	.		93
HP:0002650	HP:0002650	Scoliosis	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy	.		1
HP:0002650	HP:0002650	Scoliosis	0	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent		1
HP:0002650	HP:0002650	Scoliosis	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		13
HP:0002650	HP:0002650	Scoliosis	0	KLHL41 CL E G H	10324	16905	OMIM:615731	Nemaline myopathy 9	HP:0040283 - Occasional		13
HP:0002650	HP:0002650	Scoliosis	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		13
HP:0002650	HP:0002650	Scoliosis	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		1
HP:0002650	HP:0002650	Scoliosis	0	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2			99
HP:0002650	HP:0002650	Scoliosis	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent		660
HP:0002650	HP:0002650	Scoliosis	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.		660
HP:0002650	HP:0002650	Scoliosis	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		196
HP:0002650	HP:0002650	Scoliosis	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		196
HP:0002650	HP:0002650	Scoliosis	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			196
HP:0002650	HP:0002650	Scoliosis	0	KRIT1 CL E G H	889	1573	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040282 - Frequent		92
HP:0002650	HP:0002650	Scoliosis	0	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome			3
HP:0002650	HP:0002650	Scoliosis	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0002650	HP:0002650	Scoliosis	0	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked	.
HP:0002650	HP:0002650	Scoliosis	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040283 - Occasional		411
HP:0002650	HP:0002650	Scoliosis	0	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient			411
HP:0002650	HP:0002650	Scoliosis	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional		92
HP:0002650	HP:0002650	Scoliosis	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		136
HP:0002650	HP:0002650	Scoliosis	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040283 - Occasional		16
HP:0002650	HP:0002650	Scoliosis	0	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome	.		16
HP:0002650	HP:0002650	Scoliosis	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0002650	HP:0002650	Scoliosis	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional		68
HP:0002650	HP:0002650	Scoliosis	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		2
HP:0002650	HP:0002650	Scoliosis	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0002650	HP:0002650	Scoliosis	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent		13
HP:0002650	HP:0002650	Scoliosis	0	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive	.		13
HP:0002650	HP:0002650	Scoliosis	0	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome			51
HP:0002650	HP:0002650	Scoliosis	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040282 - Frequent		144
HP:0002650	HP:0002650	Scoliosis	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.		144
HP:0002650	HP:0002650	Scoliosis	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional		88
HP:0002650	HP:0002650	Scoliosis	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		645
HP:0002650	HP:0002650	Scoliosis	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		645
HP:0002650	HP:0002650	Scoliosis	0	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1			645
HP:0002650	HP:0002650	Scoliosis	0	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	HP:0040283 - Occasional		645
HP:0002650	HP:0002650	Scoliosis	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0002650	HP:0002650	Scoliosis	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0002650	HP:0002650	Scoliosis	0	LMNB2 CL E G H	84823	6638	OMIM:616540	Epilepsy, progressive myoclonic, 9	.		11
HP:0002650	HP:0002650	Scoliosis	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		11
HP:0002650	HP:0002650	Scoliosis	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.		165
HP:0002650	HP:0002650	Scoliosis	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional		165
HP:0002650	HP:0002650	Scoliosis	0	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome	HP:0040282 - Frequent		8
HP:0002650	HP:0002650	Scoliosis	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0002650	HP:0002650	Scoliosis	0	LOX CL E G H	4015	6664	OMIM:617168	Aortic aneurysm, familial thoracic 10	HP:0040283 - Occasional		6
HP:0002650	HP:0002650	Scoliosis	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		6
HP:0002650	HP:0002650	Scoliosis	0	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome			124
HP:0002650	HP:0002650	Scoliosis	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional		124
HP:0002650	HP:0002650	Scoliosis	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		124
HP:0002650	HP:0002650	Scoliosis	0	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome			125
HP:0002650	HP:0002650	Scoliosis	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040283 - Occasional		2
HP:0002650	HP:0002650	Scoliosis	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0002650	HP:0002650	Scoliosis	0	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature			12
HP:0002650	HP:0002650	Scoliosis	0	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent		92
HP:0002650	HP:0002650	Scoliosis	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	LYSET CL E G H	26175	20218	OMIM:619345	DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0002650	HP:0002650	Scoliosis	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		43
HP:0002650	HP:0002650	Scoliosis	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0002650	HP:0002650	Scoliosis	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		1
HP:0002650	HP:0002650	Scoliosis	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0002650	HP:0002650	Scoliosis	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0002650	HP:0002650	Scoliosis	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040283 - Occasional		21
HP:0002650	HP:0002650	Scoliosis	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent		63
HP:0002650	HP:0002650	Scoliosis	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0002650	HP:0002650	Scoliosis	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		63
HP:0002650	HP:0002650	Scoliosis	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		63
HP:0002650	HP:0002650	Scoliosis	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		63
HP:0002650	HP:0002650	Scoliosis	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.		63
HP:0002650	HP:0002650	Scoliosis	0	MAP1B CL E G H	4131	6836	ORPHA:98892	Periventricular nodular heterotopia	HP:0040281 - Very frequent
HP:0002650	HP:0002650	Scoliosis	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		134
HP:0002650	HP:0002650	Scoliosis	0	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0002650	HP:0002650	Scoliosis	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0002650	HP:0002650	Scoliosis	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		178
HP:0002650	HP:0002650	Scoliosis	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4	.		178
HP:0002650	HP:0002650	Scoliosis	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0002650	HP:0002650	Scoliosis	0	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion	.		2
HP:0002650	HP:0002650	Scoliosis	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.		11
HP:0002650	HP:0002650	Scoliosis	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040281 - Very frequent		11
HP:0002650	HP:0002650	Scoliosis	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.		11
HP:0002650	HP:0002650	Scoliosis	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0002650	HP:0002650	Scoliosis	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	.
HP:0002650	HP:0002650	Scoliosis	0	MAPT CL E G H	4137	6893	OMIM:260540	Supranuclear palsy, progressive atypical			140
HP:0002650	HP:0002650	Scoliosis	0	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy	HP:0040282 - Frequent		25
HP:0002650	HP:0002650	Scoliosis	0	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive			25
HP:0002650	HP:0002650	Scoliosis	0	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent		21
HP:0002650	HP:0002650	Scoliosis	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		13
HP:0002650	HP:0002650	Scoliosis	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0002650	HP:0002650	Scoliosis	0	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040282 - Frequent		22
HP:0002650	HP:0002650	Scoliosis	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.		22
HP:0002650	HP:0002650	Scoliosis	0	MBTPS2 CL E G H	51360	15455	OMIM:301014	Osteogenesis imperfecta, type XIX	.		22
HP:0002650	HP:0002650	Scoliosis	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	.		3
HP:0002650	HP:0002650	Scoliosis	0	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		950
HP:0002650	HP:0002650	Scoliosis	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0002650	HP:0002650	Scoliosis	0	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome	.		950
HP:0002650	HP:0002650	Scoliosis	0	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome	HP:0040283 - Occasional		950
HP:0002650	HP:0002650	Scoliosis	0	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome			950
HP:0002650	HP:0002650	Scoliosis	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0002650	HP:0002650	Scoliosis	0	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040281 - Very frequent		228
HP:0002650	HP:0002650	Scoliosis	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0002650	HP:0002650	Scoliosis	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional		43
HP:0002650	HP:0002650	Scoliosis	0	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional		43
HP:0002650	HP:0002650	Scoliosis	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0002650	HP:0002650	Scoliosis	0	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0002650	HP:0002650	Scoliosis	0	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional		1
HP:0002650	HP:0002650	Scoliosis	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.		158
HP:0002650	HP:0002650	Scoliosis	0	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome			13
HP:0002650	HP:0002650	Scoliosis	0	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040283 - Occasional		7
HP:0002650	HP:0002650	Scoliosis	0	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040282 - Frequent		5
HP:0002650	HP:0002650	Scoliosis	0	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive	.		5
HP:0002650	HP:0002650	Scoliosis	0	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0002650	HP:0002650	Scoliosis	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent		45
HP:0002650	HP:0002650	Scoliosis	0	MESP2 CL E G H	145873	29659	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0002650	HP:0002650	Scoliosis	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0002650	HP:0002650	Scoliosis	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		11
HP:0002650	HP:0002650	Scoliosis	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040284 - Very rare		203
HP:0002650	HP:0002650	Scoliosis	0	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	.		203
HP:0002650	HP:0002650	Scoliosis	0	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A	.		203
HP:0002650	HP:0002650	Scoliosis	0	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.		203
HP:0002650	HP:0002650	Scoliosis	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0002650	HP:0002650	Scoliosis	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional		39
HP:0002650	HP:0002650	Scoliosis	0	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0002650	HP:0002650	Scoliosis	0	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16			3
HP:0002650	HP:0002650	Scoliosis	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0002650	HP:0002650	Scoliosis	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0002650	HP:0002650	Scoliosis	0	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		127
HP:0002650	HP:0002650	Scoliosis	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		127
HP:0002650	HP:0002650	Scoliosis	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0002650	HP:0002650	Scoliosis	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0002650	HP:0002650	Scoliosis	0	MMP13 CL E G H	4322	7159	ORPHA:2501	Metaphyseal chondrodysplasia, Spahr type	HP:0040282 - Frequent		52
HP:0002650	HP:0002650	Scoliosis	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0002650	HP:0002650	Scoliosis	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB			37
HP:0002650	HP:0002650	Scoliosis	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0002650	HP:0002650	Scoliosis	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z	HP:0040283 - Occasional		8
HP:0002650	HP:0002650	Scoliosis	0	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0002650	HP:0002650	Scoliosis	0	MPL CL E G H	4352	7217	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia	HP:0040282 - Frequent		97
HP:0002650	HP:0002650	Scoliosis	0	MPZ CL E G H	4359	7225	ORPHA:101082	Charcot-Marie-Tooth disease type 1B	HP:0040282 - Frequent		134
HP:0002650	HP:0002650	Scoliosis	0	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B			134
HP:0002650	HP:0002650	Scoliosis	0	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			134
HP:0002650	HP:0002650	Scoliosis	0	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2	.		134
HP:0002650	HP:0002650	Scoliosis	0	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent		134
HP:0002650	HP:0002650	Scoliosis	0	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia			134
HP:0002650	HP:0002650	Scoliosis	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0002650	HP:0002650	Scoliosis	0	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32			1
HP:0002650	HP:0002650	Scoliosis	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0002650	HP:0002650	Scoliosis	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0002650	HP:0002650	Scoliosis	0	MTMR2 CL E G H	8898	7450	OMIM:601382	Charcot-Marie-Tooth disease, type 4B1	.		88
HP:0002650	HP:0002650	Scoliosis	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0002650	HP:0002650	Scoliosis	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040283 - Occasional		88
HP:0002650	HP:0002650	Scoliosis	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0002650	HP:0002650	Scoliosis	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent		72
HP:0002650	HP:0002650	Scoliosis	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		72
HP:0002650	HP:0002650	Scoliosis	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0002650	HP:0002650	Scoliosis	0	MYBPC1 CL E G H	4604	7549	OMIM:618524	MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM			66
HP:0002650	HP:0002650	Scoliosis	0	MYF5 CL E G H	4617	7565	OMIM:618155	Ophthalmoplegia, external, with rib and vertebral anomalies	.
HP:0002650	HP:0002650	Scoliosis	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		418
HP:0002650	HP:0002650	Scoliosis	0	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia	HP:0040283 - Occasional		105
HP:0002650	HP:0002650	Scoliosis	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0002650	HP:0002650	Scoliosis	0	MYH3 CL E G H	4621	7573	OMIM:618436	Arthrogryposis, distal, type 2B3	.		166
HP:0002650	HP:0002650	Scoliosis	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040281 - Very frequent		166
HP:0002650	HP:0002650	Scoliosis	0	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A	.		166
HP:0002650	HP:0002650	Scoliosis	0	MYH3 CL E G H	4621	7573	OMIM:618469	CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B			166
HP:0002650	HP:0002650	Scoliosis	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent		166
HP:0002650	HP:0002650	Scoliosis	0	MYH3 CL E G H	4621	7573	ORPHA:1147	Sheldon-Hall syndrome	HP:0040281 - Very frequent		166
HP:0002650	HP:0002650	Scoliosis	0	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		1269
HP:0002650	HP:0002650	Scoliosis	0	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy	HP:0040282 - Frequent		1269
HP:0002650	HP:0002650	Scoliosis	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1269
HP:0002650	HP:0002650	Scoliosis	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	.		1269
HP:0002650	HP:0002650	Scoliosis	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive	HP:0040283 - Occasional		1269
HP:0002650	HP:0002650	Scoliosis	0	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0002650	HP:0002650	Scoliosis	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0002650	HP:0002650	Scoliosis	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		326
HP:0002650	HP:0002650	Scoliosis	0	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040282 - Frequent		5
HP:0002650	HP:0002650	Scoliosis	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.		5
HP:0002650	HP:0002650	Scoliosis	0	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0002650	HP:0002650	Scoliosis	0	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040282 - Frequent
HP:0002650	HP:0002650	Scoliosis	0	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0002650	HP:0002650	Scoliosis	0	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0002650	HP:0002650	Scoliosis	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0002650	HP:0002650	Scoliosis	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent
HP:0002650	HP:0002650	Scoliosis	0	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy			217
HP:0002650	HP:0002650	Scoliosis	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		217
HP:0002650	HP:0002650	Scoliosis	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040283 - Occasional		23
HP:0002650	HP:0002650	Scoliosis	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0002650	HP:0002650	Scoliosis	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040282 - Frequent		23
HP:0002650	HP:0002650	Scoliosis	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	HP:0040283 - Occasional		23
HP:0002650	HP:0002650	Scoliosis	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0002650	HP:0002650	Scoliosis	0	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	.		1
HP:0002650	HP:0002650	Scoliosis	0	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract	HP:0040283 - Occasional		1
HP:0002650	HP:0002650	Scoliosis	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	HP:0040283 - Occasional		48
HP:0002650	HP:0002650	Scoliosis	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent		48
HP:0002650	HP:0002650	Scoliosis	0	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.		48
HP:0002650	HP:0002650	Scoliosis	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent		48
HP:0002650	HP:0002650	Scoliosis	0	NALCN CL E G H	259232	19082	ORPHA:1147	Sheldon-Hall syndrome	HP:0040281 - Very frequent		48
HP:0002650	HP:0002650	Scoliosis	0	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0002650	HP:0002650	Scoliosis	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.		2
HP:0002650	HP:0002650	Scoliosis	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0002650	HP:0002650	Scoliosis	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0002650	HP:0002650	Scoliosis	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0002650	HP:0002650	Scoliosis	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0002650	HP:0002650	Scoliosis	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040283 - Occasional		39
HP:0002650	HP:0002650	Scoliosis	0	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D			82
HP:0002650	HP:0002650	Scoliosis	0	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23	.		7
HP:0002650	HP:0002650	Scoliosis	0	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11	.		40
HP:0002650	HP:0002650	Scoliosis	0	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16			34
HP:0002650	HP:0002650	Scoliosis	0	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17	.		39
HP:0002650	HP:0002650	Scoliosis	0	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8			22
HP:0002650	HP:0002650	Scoliosis	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		745
HP:0002650	HP:0002650	Scoliosis	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.		745
HP:0002650	HP:0002650	Scoliosis	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		745
HP:0002650	HP:0002650	Scoliosis	0	NEDD4L CL E G H	23327	7728	ORPHA:98892	Periventricular nodular heterotopia	HP:0040281 - Very frequent		30
HP:0002650	HP:0002650	Scoliosis	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040283 - Occasional		118
HP:0002650	HP:0002650	Scoliosis	0	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E	HP:0040283 - Occasional		118
HP:0002650	HP:0002650	Scoliosis	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0002650	HP:0002650	Scoliosis	0	NEK9 CL E G H	91754	18591	ORPHA:64754	Nevus comedonicus syndrome	HP:0040283 - Occasional		9
HP:0002650	HP:0002650	Scoliosis	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0002650	HP:0002650	Scoliosis	0	NEMF CL E G H	9147	10663	OMIM:619099	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN			1
HP:0002650	HP:0002650	Scoliosis	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0002650	HP:0002650	Scoliosis	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040281 - Very frequent		43
HP:0002650	HP:0002650	Scoliosis	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional		1952
HP:0002650	HP:0002650	Scoliosis	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040282 - Frequent		1952
HP:0002650	HP:0002650	Scoliosis	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0002650	HP:0002650	Scoliosis	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0002650	HP:0002650	Scoliosis	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0002650	HP:0002650	Scoliosis	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040283 - Occasional		40
HP:0002650	HP:0002650	Scoliosis	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.		40
HP:0002650	HP:0002650	Scoliosis	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040282 - Frequent		40
HP:0002650	HP:0002650	Scoliosis	0	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2	.		40
HP:0002650	HP:0002650	Scoliosis	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional		32
HP:0002650	HP:0002650	Scoliosis	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0002650	HP:0002650	Scoliosis	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		27
HP:0002650	HP:0002650	Scoliosis	0	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type			55
HP:0002650	HP:0002650	Scoliosis	0	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7			55
HP:0002650	HP:0002650	Scoliosis	0	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0002650	HP:0002650	Scoliosis	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0002650	HP:0002650	Scoliosis	0	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy	HP:0040283 - Occasional		2
HP:0002650	HP:0002650	Scoliosis	0	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0002650	HP:0002650	Scoliosis	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0002650	HP:0002650	Scoliosis	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0002650	HP:0002650	Scoliosis	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		45
HP:0002650	HP:0002650	Scoliosis	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		45
HP:0002650	HP:0002650	Scoliosis	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0002650	HP:0002650	Scoliosis	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0002650	HP:0002650	Scoliosis	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0002650	HP:0002650	Scoliosis	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		17
HP:0002650	HP:0002650	Scoliosis	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0002650	HP:0002650	Scoliosis	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040282 - Frequent		138
HP:0002650	HP:0002650	Scoliosis	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:2289	Neuronal intranuclear inclusion disease	HP:0040282 - Frequent
HP:0002650	HP:0002650	Scoliosis	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040282 - Frequent		144
HP:0002650	HP:0002650	Scoliosis	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.		144
HP:0002650	HP:0002650	Scoliosis	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0002650	HP:0002650	Scoliosis	0	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional		85
HP:0002650	HP:0002650	Scoliosis	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		12
HP:0002650	HP:0002650	Scoliosis	0	NPR2 CL E G H	4882	7944	ORPHA:40	Acromesomelic dysplasia, Maroteaux type	HP:0040282 - Frequent		53
HP:0002650	HP:0002650	Scoliosis	0	NPR2 CL E G H	4882	7944	OMIM:615923	Epiphyseal chondrodysplasia, Miura type	.		53
HP:0002650	HP:0002650	Scoliosis	0	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional		27
HP:0002650	HP:0002650	Scoliosis	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		102
HP:0002650	HP:0002650	Scoliosis	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			102
HP:0002650	HP:0002650	Scoliosis	0	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0002650	HP:0002650	Scoliosis	0	NRXN1 CL E G H	9378	8008	OMIM:614325	Pitt-Hopkins-Like syndrome 2	.		470
HP:0002650	HP:0002650	Scoliosis	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		544
HP:0002650	HP:0002650	Scoliosis	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0002650	HP:0002650	Scoliosis	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040283 - Occasional		544
HP:0002650	HP:0002650	Scoliosis	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0002650	HP:0002650	Scoliosis	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		118
HP:0002650	HP:0002650	Scoliosis	0	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome			34
HP:0002650	HP:0002650	Scoliosis	0	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.		34
HP:0002650	HP:0002650	Scoliosis	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0002650	HP:0002650	Scoliosis	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional		84
HP:0002650	HP:0002650	Scoliosis	0	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		1
HP:0002650	HP:0002650	Scoliosis	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0002650	HP:0002650	Scoliosis	0	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent
HP:0002650	HP:0002650	Scoliosis	0	NUS1 CL E G H	116150	21042	OMIM:617082	Congenital disorder of glycosylation, type IAA	.	HP:0003577 - Congenital onset	1
HP:0002650	HP:0002650	Scoliosis	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent		2
HP:0002650	HP:0002650	Scoliosis	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040283 - Occasional		143
HP:0002650	HP:0002650	Scoliosis	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		121
HP:0002650	HP:0002650	Scoliosis	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		121
HP:0002650	HP:0002650	Scoliosis	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		121
HP:0002650	HP:0002650	Scoliosis	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		121
HP:0002650	HP:0002650	Scoliosis	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.		88
HP:0002650	HP:0002650	Scoliosis	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent		88
HP:0002650	HP:0002650	Scoliosis	0	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN			3
HP:0002650	HP:0002650	Scoliosis	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040282 - Frequent		4
HP:0002650	HP:0002650	Scoliosis	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0002650	HP:0002650	Scoliosis	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.		43
HP:0002650	HP:0002650	Scoliosis	0	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome	HP:0040282 - Frequent		2
HP:0002650	HP:0002650	Scoliosis	0	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1	.		2
HP:0002650	HP:0002650	Scoliosis	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0002650	HP:0002650	Scoliosis	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional		24
HP:0002650	HP:0002650	Scoliosis	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040284 - Very rare		231
HP:0002650	HP:0002650	Scoliosis	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		1349
HP:0002650	HP:0002650	Scoliosis	0	PAPSS2 CL E G H	9060	8604	OMIM:612847	Brachyolmia 4 with mild epiphyseal and metaphyseal changes			20
HP:0002650	HP:0002650	Scoliosis	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		26
HP:0002650	HP:0002650	Scoliosis	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0002650	HP:0002650	Scoliosis	0	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040283 - Occasional		59
HP:0002650	HP:0002650	Scoliosis	0	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome	HP:0040283 - Occasional		194
HP:0002650	HP:0002650	Scoliosis	0	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0002650	HP:0002650	Scoliosis	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0002650	HP:0002650	Scoliosis	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040282 - Frequent		531
HP:0002650	HP:0002650	Scoliosis	0	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040283 - Occasional		531
HP:0002650	HP:0002650	Scoliosis	0	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy	.		11
HP:0002650	HP:0002650	Scoliosis	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040283 - Occasional		11
HP:0002650	HP:0002650	Scoliosis	0	PDCD10 CL E G H	11235	8761	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040282 - Frequent		21
HP:0002650	HP:0002650	Scoliosis	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040282 - Frequent		113
HP:0002650	HP:0002650	Scoliosis	0	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome			28
HP:0002650	HP:0002650	Scoliosis	0	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type	HP:0040283 - Occasional		28
HP:0002650	HP:0002650	Scoliosis	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0002650	HP:0002650	Scoliosis	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0002650	HP:0002650	Scoliosis	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0002650	HP:0002650	Scoliosis	0	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1			72
HP:0002650	HP:0002650	Scoliosis	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0002650	HP:0002650	Scoliosis	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		20
HP:0002650	HP:0002650	Scoliosis	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0002650	HP:0002650	Scoliosis	0	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70			1
HP:0002650	HP:0002650	Scoliosis	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.		29
HP:0002650	HP:0002650	Scoliosis	0	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type	HP:0040283 - Occasional		23
HP:0002650	HP:0002650	Scoliosis	0	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		4
HP:0002650	HP:0002650	Scoliosis	0	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III	.		36
HP:0002650	HP:0002650	Scoliosis	0	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3			77
HP:0002650	HP:0002650	Scoliosis	0	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	HP:0040283 - Occasional		77
HP:0002650	HP:0002650	Scoliosis	0	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch			77
HP:0002650	HP:0002650	Scoliosis	0	PIEZO2 CL E G H	63895	26270	ORPHA:376	Gordon syndrome	HP:0040283 - Occasional		77
HP:0002650	HP:0002650	Scoliosis	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.		77
HP:0002650	HP:0002650	Scoliosis	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040282 - Frequent		77
HP:0002650	HP:0002650	Scoliosis	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0002650	HP:0002650	Scoliosis	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		7
HP:0002650	HP:0002650	Scoliosis	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		36
HP:0002650	HP:0002650	Scoliosis	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		84
HP:0002650	HP:0002650	Scoliosis	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0002650	HP:0002650	Scoliosis	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0002650	HP:0002650	Scoliosis	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040282 - Frequent		12
HP:0002650	HP:0002650	Scoliosis	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.		12
HP:0002650	HP:0002650	Scoliosis	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0002650	HP:0002650	Scoliosis	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		57
HP:0002650	HP:0002650	Scoliosis	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		6
HP:0002650	HP:0002650	Scoliosis	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		2
HP:0002650	HP:0002650	Scoliosis	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0002650	HP:0002650	Scoliosis	0	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	HP:0040283 - Occasional		162
HP:0002650	HP:0002650	Scoliosis	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		162
HP:0002650	HP:0002650	Scoliosis	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.		162
HP:0002650	HP:0002650	Scoliosis	0	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome	HP:0040283 - Occasional		162
HP:0002650	HP:0002650	Scoliosis	0	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome			12
HP:0002650	HP:0002650	Scoliosis	0	PISD CL E G H	23761	8999	OMIM:618889	LIBERFARB SYNDROME; LIBF			1
HP:0002650	HP:0002650	Scoliosis	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C			186
HP:0002650	HP:0002650	Scoliosis	0	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4	.		186
HP:0002650	HP:0002650	Scoliosis	0	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		11
HP:0002650	HP:0002650	Scoliosis	0	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040283 - Occasional		11
HP:0002650	HP:0002650	Scoliosis	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0002650	HP:0002650	Scoliosis	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0002650	HP:0002650	Scoliosis	0	PLOD2 CL E G H	5352	9082	ORPHA:2771	Bruck syndrome	HP:0040282 - Frequent		45
HP:0002650	HP:0002650	Scoliosis	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.		5
HP:0002650	HP:0002650	Scoliosis	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0002650	HP:0002650	Scoliosis	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0002650	HP:0002650	Scoliosis	0	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A			79
HP:0002650	HP:0002650	Scoliosis	0	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A			79
HP:0002650	HP:0002650	Scoliosis	0	PMP22 CL E G H	5376	9118	ORPHA:640	Hereditary neuropathy with liability to pressure palsies	HP:0040282 - Frequent		79
HP:0002650	HP:0002650	Scoliosis	0	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			79
HP:0002650	HP:0002650	Scoliosis	0	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent		79
HP:0002650	HP:0002650	Scoliosis	0	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia			79
HP:0002650	HP:0002650	Scoliosis	0	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4			244
HP:0002650	HP:0002650	Scoliosis	0	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25	.		60
HP:0002650	HP:0002650	Scoliosis	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040282 - Frequent		60
HP:0002650	HP:0002650	Scoliosis	0	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent		6
HP:0002650	HP:0002650	Scoliosis	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome	.		2
HP:0002650	HP:0002650	Scoliosis	0	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.		731
HP:0002650	HP:0002650	Scoliosis	0	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	.		1129
HP:0002650	HP:0002650	Scoliosis	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0002650	HP:0002650	Scoliosis	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0002650	HP:0002650	Scoliosis	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.		138
HP:0002650	HP:0002650	Scoliosis	0	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12	.		18
HP:0002650	HP:0002650	Scoliosis	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		213
HP:0002650	HP:0002650	Scoliosis	0	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			213
HP:0002650	HP:0002650	Scoliosis	0	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040283 - Occasional		213
HP:0002650	HP:0002650	Scoliosis	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		221
HP:0002650	HP:0002650	Scoliosis	0	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2	.		221
HP:0002650	HP:0002650	Scoliosis	0	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	.		221
HP:0002650	HP:0002650	Scoliosis	0	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2			6
HP:0002650	HP:0002650	Scoliosis	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.		76
HP:0002650	HP:0002650	Scoliosis	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional		76
HP:0002650	HP:0002650	Scoliosis	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040282 - Frequent		20
HP:0002650	HP:0002650	Scoliosis	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0002650	HP:0002650	Scoliosis	0	POU4F1 CL E G H	5457	9218	OMIM:619352	ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0002650	HP:0002650	Scoliosis	0	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX			39
HP:0002650	HP:0002650	Scoliosis	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0002650	HP:0002650	Scoliosis	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0002650	HP:0002650	Scoliosis	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0002650	HP:0002650	Scoliosis	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		2
HP:0002650	HP:0002650	Scoliosis	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0002650	HP:0002650	Scoliosis	0	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36			13
HP:0002650	HP:0002650	Scoliosis	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040282 - Frequent		13
HP:0002650	HP:0002650	Scoliosis	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	HP:0040284 - Very rare
HP:0002650	HP:0002650	Scoliosis	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040282 - Frequent		10
HP:0002650	HP:0002650	Scoliosis	0	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35			10
HP:0002650	HP:0002650	Scoliosis	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.		28
HP:0002650	HP:0002650	Scoliosis	0	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH			2
HP:0002650	HP:0002650	Scoliosis	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0002650	HP:0002650	Scoliosis	0	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040283 - Occasional		58
HP:0002650	HP:0002650	Scoliosis	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance	.		134
HP:0002650	HP:0002650	Scoliosis	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040282 - Frequent		134
HP:0002650	HP:0002650	Scoliosis	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia	.		7
HP:0002650	HP:0002650	Scoliosis	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		41
HP:0002650	HP:0002650	Scoliosis	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0002650	HP:0002650	Scoliosis	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0002650	HP:0002650	Scoliosis	0	PRPS1 CL E G H	5631	9462	ORPHA:99014	X-linked Charcot-Marie-Tooth disease type 5	HP:0040283 - Occasional		49
HP:0002650	HP:0002650	Scoliosis	0	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	.		8
HP:0002650	HP:0002650	Scoliosis	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0002650	HP:0002650	Scoliosis	0	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F	.		170
HP:0002650	HP:0002650	Scoliosis	0	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			170
HP:0002650	HP:0002650	Scoliosis	0	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2	.		27
HP:0002650	HP:0002650	Scoliosis	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent		4
HP:0002650	HP:0002650	Scoliosis	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0002650	HP:0002650	Scoliosis	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome	.		665
HP:0002650	HP:0002650	Scoliosis	0	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome	HP:0040282 - Frequent		665
HP:0002650	HP:0002650	Scoliosis	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0002650	HP:0002650	Scoliosis	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		665
HP:0002650	HP:0002650	Scoliosis	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		665
HP:0002650	HP:0002650	Scoliosis	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0002650	HP:0002650	Scoliosis	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome	.		40
HP:0002650	HP:0002650	Scoliosis	0	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome	HP:0040282 - Frequent		40
HP:0002650	HP:0002650	Scoliosis	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040283 - Occasional		6
HP:0002650	HP:0002650	Scoliosis	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040282 - Frequent		948
HP:0002650	HP:0002650	Scoliosis	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		948
HP:0002650	HP:0002650	Scoliosis	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.		948
HP:0002650	HP:0002650	Scoliosis	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent		948
HP:0002650	HP:0002650	Scoliosis	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1			291
HP:0002650	HP:0002650	Scoliosis	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		291
HP:0002650	HP:0002650	Scoliosis	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0002650	HP:0002650	Scoliosis	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional		291
HP:0002650	HP:0002650	Scoliosis	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0002650	HP:0002650	Scoliosis	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0002650	HP:0002650	Scoliosis	0	PUF60 CL E G H	22827	17042	OMIM:615583	Verheij syndrome	.		19
HP:0002650	HP:0002650	Scoliosis	0	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040282 - Frequent		57
HP:0002650	HP:0002650	Scoliosis	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0002650	HP:0002650	Scoliosis	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0002650	HP:0002650	Scoliosis	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.		53
HP:0002650	HP:0002650	Scoliosis	0	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica	HP:0040282 - Frequent		53
HP:0002650	HP:0002650	Scoliosis	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0002650	HP:0002650	Scoliosis	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0002650	HP:0002650	Scoliosis	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0002650	HP:0002650	Scoliosis	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent		85
HP:0002650	HP:0002650	Scoliosis	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0002650	HP:0002650	Scoliosis	0	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome			31
HP:0002650	HP:0002650	Scoliosis	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1	.		31
HP:0002650	HP:0002650	Scoliosis	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040283 - Occasional		90
HP:0002650	HP:0002650	Scoliosis	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent		90
HP:0002650	HP:0002650	Scoliosis	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1			90
HP:0002650	HP:0002650	Scoliosis	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040283 - Occasional		135
HP:0002650	HP:0002650	Scoliosis	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0002650	HP:0002650	Scoliosis	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent		135
HP:0002650	HP:0002650	Scoliosis	0	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0002650	HP:0002650	Scoliosis	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0002650	HP:0002650	Scoliosis	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional		3
HP:0002650	HP:0002650	Scoliosis	0	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF			1
HP:0002650	HP:0002650	Scoliosis	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		9
HP:0002650	HP:0002650	Scoliosis	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		391
HP:0002650	HP:0002650	Scoliosis	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		212
HP:0002650	HP:0002650	Scoliosis	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional		212
HP:0002650	HP:0002650	Scoliosis	0	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome	HP:0040282 - Frequent		150
HP:0002650	HP:0002650	Scoliosis	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		150
HP:0002650	HP:0002650	Scoliosis	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0002650	HP:0002650	Scoliosis	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent		73
HP:0002650	HP:0002650	Scoliosis	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		73
HP:0002650	HP:0002650	Scoliosis	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		3
HP:0002650	HP:0002650	Scoliosis	0	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome			68
HP:0002650	HP:0002650	Scoliosis	0	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040283 - Occasional		68
HP:0002650	HP:0002650	Scoliosis	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency	HP:0040283 - Occasional		10
HP:0002650	HP:0002650	Scoliosis	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional		16
HP:0002650	HP:0002650	Scoliosis	0	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome			1
HP:0002650	HP:0002650	Scoliosis	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome			1
HP:0002650	HP:0002650	Scoliosis	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040283 - Occasional		10
HP:0002650	HP:0002650	Scoliosis	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040283 - Occasional		445
HP:0002650	HP:0002650	Scoliosis	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.		445
HP:0002650	HP:0002650	Scoliosis	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0002650	HP:0002650	Scoliosis	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0002650	HP:0002650	Scoliosis	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0002650	HP:0002650	Scoliosis	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional		16
HP:0002650	HP:0002650	Scoliosis	0	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB	.		572
HP:0002650	HP:0002650	Scoliosis	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent
HP:0002650	HP:0002650	Scoliosis	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome	.		43
HP:0002650	HP:0002650	Scoliosis	0	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome	HP:0040281 - Very frequent		43
HP:0002650	HP:0002650	Scoliosis	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent		3
HP:0002650	HP:0002650	Scoliosis	0	RIPPLY2 CL E G H	134701	21390	OMIM:616566	Spondylocostal dysostosis 6, autosomal recessive	.		3
HP:0002650	HP:0002650	Scoliosis	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		39
HP:0002650	HP:0002650	Scoliosis	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.		37
HP:0002650	HP:0002650	Scoliosis	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent		37
HP:0002650	HP:0002650	Scoliosis	0	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040283 - Occasional		3
HP:0002650	HP:0002650	Scoliosis	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		33
HP:0002650	HP:0002650	Scoliosis	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		34
HP:0002650	HP:0002650	Scoliosis	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		60
HP:0002650	HP:0002650	Scoliosis	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.		5
HP:0002650	HP:0002650	Scoliosis	0	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0002650	HP:0002650	Scoliosis	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0002650	HP:0002650	Scoliosis	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002650	HP:0002650	Scoliosis	0	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1			90
HP:0002650	HP:0002650	Scoliosis	0	ROBO3 CL E G H	64221	13433	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis	HP:0040281 - Very frequent		90
HP:0002650	HP:0002650	Scoliosis	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent		120
HP:0002650	HP:0002650	Scoliosis	0	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1			120
HP:0002650	HP:0002650	Scoliosis	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.		120
HP:0002650	HP:0002650	Scoliosis	0	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7	.		167
HP:0002650	HP:0002650	Scoliosis	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		167
HP:0002650	HP:0002650	Scoliosis	0	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional		167
HP:0002650	HP:0002650	Scoliosis	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0002650	HP:0002650	Scoliosis	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040282 - Frequent		10
HP:0002650	HP:0002650	Scoliosis	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.		22
HP:0002650	HP:0002650	Scoliosis	0	RPL13 CL E G H	6137	10303	OMIM:618728	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST
HP:0002650	HP:0002650	Scoliosis	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.		65
HP:0002650	HP:0002650	Scoliosis	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040281 - Very frequent		65
HP:0002650	HP:0002650	Scoliosis	0	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19			65
HP:0002650	HP:0002650	Scoliosis	0	RPS6KA3 CL E G H	6197	10432	ORPHA:276630	Symptomatic form of Coffin-Lowry syndrome in female carriers	HP:0040283 - Occasional		65
HP:0002650	HP:0002650	Scoliosis	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0002650	HP:0002650	Scoliosis	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		1
HP:0002650	HP:0002650	Scoliosis	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040283 - Occasional		125
HP:0002650	HP:0002650	Scoliosis	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0002650	HP:0002650	Scoliosis	0	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type			2
HP:0002650	HP:0002650	Scoliosis	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		77
HP:0002650	HP:0002650	Scoliosis	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040283 - Occasional		90
HP:0002650	HP:0002650	Scoliosis	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.		90
HP:0002650	HP:0002650	Scoliosis	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0002650	HP:0002650	Scoliosis	0	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease			1200
HP:0002650	HP:0002650	Scoliosis	0	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease			1200
HP:0002650	HP:0002650	Scoliosis	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional		1200
HP:0002650	HP:0002650	Scoliosis	0	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset	HP:0040282 - Frequent		1200
HP:0002650	HP:0002650	Scoliosis	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0002650	HP:0002650	Scoliosis	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia			1200
HP:0002650	HP:0002650	Scoliosis	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1200
HP:0002650	HP:0002650	Scoliosis	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type			309
HP:0002650	HP:0002650	Scoliosis	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.		86
HP:0002650	HP:0002650	Scoliosis	0	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome	HP:0040282 - Frequent		86
HP:0002650	HP:0002650	Scoliosis	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome			86
HP:0002650	HP:0002650	Scoliosis	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.	HP:0003577 - Congenital onset	8
HP:0002650	HP:0002650	Scoliosis	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		55
HP:0002650	HP:0002650	Scoliosis	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0002650	HP:0002650	Scoliosis	0	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3	.		16
HP:0002650	HP:0002650	Scoliosis	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0002650	HP:0002650	Scoliosis	0	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2			180
HP:0002650	HP:0002650	Scoliosis	0	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0002650	HP:0002650	Scoliosis	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		263
HP:0002650	HP:0002650	Scoliosis	0	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0002650	HP:0002650	Scoliosis	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		237
HP:0002650	HP:0002650	Scoliosis	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		147
HP:0002650	HP:0002650	Scoliosis	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		129
HP:0002650	HP:0002650	Scoliosis	0	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040281 - Very frequent		2
HP:0002650	HP:0002650	Scoliosis	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.		2
HP:0002650	HP:0002650	Scoliosis	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		60
HP:0002650	HP:0002650	Scoliosis	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome	HP:0040282 - Frequent		5
HP:0002650	HP:0002650	Scoliosis	0	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		144
HP:0002650	HP:0002650	Scoliosis	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0002650	HP:0002650	Scoliosis	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			144
HP:0002650	HP:0002650	Scoliosis	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.		144
HP:0002650	HP:0002650	Scoliosis	0	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome	HP:0040281 - Very frequent		144
HP:0002650	HP:0002650	Scoliosis	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional		16
HP:0002650	HP:0002650	Scoliosis	0	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p	HP:0040282 - Frequent		6
HP:0002650	HP:0002650	Scoliosis	0	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.		52
HP:0002650	HP:0002650	Scoliosis	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare		143
HP:0002650	HP:0002650	Scoliosis	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		60
HP:0002650	HP:0002650	Scoliosis	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional		43
HP:0002650	HP:0002650	Scoliosis	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0002650	HP:0002650	Scoliosis	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1			162
HP:0002650	HP:0002650	Scoliosis	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0002650	HP:0002650	Scoliosis	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.		49
HP:0002650	HP:0002650	Scoliosis	0	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease	.		3
HP:0002650	HP:0002650	Scoliosis	0	SGCA CL E G H	6442	10805	ORPHA:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3			132
HP:0002650	HP:0002650	Scoliosis	0	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D	HP:0040283 - Occasional		132
HP:0002650	HP:0002650	Scoliosis	0	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040283 - Occasional		83
HP:0002650	HP:0002650	Scoliosis	0	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C	.		83
HP:0002650	HP:0002650	Scoliosis	0	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility	.
HP:0002650	HP:0002650	Scoliosis	0	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0002650	HP:0002650	Scoliosis	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0002650	HP:0002650	Scoliosis	0	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040282 - Frequent		134
HP:0002650	HP:0002650	Scoliosis	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0002650	HP:0002650	Scoliosis	0	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C	.		493
HP:0002650	HP:0002650	Scoliosis	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0002650	HP:0002650	Scoliosis	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0002650	HP:0002650	Scoliosis	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		67
HP:0002650	HP:0002650	Scoliosis	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		67
HP:0002650	HP:0002650	Scoliosis	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0002650	HP:0002650	Scoliosis	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0002650	HP:0002650	Scoliosis	0	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis			66
HP:0002650	HP:0002650	Scoliosis	0	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature	HP:0040281 - Very frequent		66
HP:0002650	HP:0002650	Scoliosis	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		6
HP:0002650	HP:0002650	Scoliosis	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent		67
HP:0002650	HP:0002650	Scoliosis	0	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome	.		67
HP:0002650	HP:0002650	Scoliosis	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent		40
HP:0002650	HP:0002650	Scoliosis	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040283 - Occasional		9
HP:0002650	HP:0002650	Scoliosis	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0002650	HP:0002650	Scoliosis	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0002650	HP:0002650	Scoliosis	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2	.		32
HP:0002650	HP:0002650	Scoliosis	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0002650	HP:0002650	Scoliosis	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		32
HP:0002650	HP:0002650	Scoliosis	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		32
HP:0002650	HP:0002650	Scoliosis	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0002650	HP:0002650	Scoliosis	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0002650	HP:0002650	Scoliosis	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0002650	HP:0002650	Scoliosis	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent		150
HP:0002650	HP:0002650	Scoliosis	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	.
HP:0002650	HP:0002650	Scoliosis	0	SLC12A6 CL E G H	9990	10914	OMIM:620068				163
HP:0002650	HP:0002650	Scoliosis	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.		163
HP:0002650	HP:0002650	Scoliosis	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.		57
HP:0002650	HP:0002650	Scoliosis	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0002650	HP:0002650	Scoliosis	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent		2
HP:0002650	HP:0002650	Scoliosis	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002650	HP:0002650	Scoliosis	0	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41			3
HP:0002650	HP:0002650	Scoliosis	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0002650	HP:0002650	Scoliosis	0	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0002650	HP:0002650	Scoliosis	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0002650	HP:0002650	Scoliosis	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB	.		14
HP:0002650	HP:0002650	Scoliosis	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0002650	HP:0002650	Scoliosis	0	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II			166
HP:0002650	HP:0002650	Scoliosis	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040281 - Very frequent		166
HP:0002650	HP:0002650	Scoliosis	0	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0002650	HP:0002650	Scoliosis	0	SLC26A2 CL E G H	1836	10994	OMIM:226900	Epiphyseal dysplasia, multiple, 4	.		166
HP:0002650	HP:0002650	Scoliosis	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional		166
HP:0002650	HP:0002650	Scoliosis	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional		178
HP:0002650	HP:0002650	Scoliosis	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040282 - Frequent		27
HP:0002650	HP:0002650	Scoliosis	0	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures			2
HP:0002650	HP:0002650	Scoliosis	0	SLC35A3 CL E G H	23443	11023	ORPHA:370943	Autism spectrum disorder-epilepsy-arthrogryposis syndrome	HP:0040283 - Occasional		2
HP:0002650	HP:0002650	Scoliosis	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0002650	HP:0002650	Scoliosis	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0002650	HP:0002650	Scoliosis	0	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome	HP:0040282 - Frequent		5
HP:0002650	HP:0002650	Scoliosis	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2	.		5
HP:0002650	HP:0002650	Scoliosis	0	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	HP:0040283 - Occasional		47
HP:0002650	HP:0002650	Scoliosis	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.		51
HP:0002650	HP:0002650	Scoliosis	0	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic	.		9
HP:0002650	HP:0002650	Scoliosis	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0002650	HP:0002650	Scoliosis	0	SLC6A1 CL E G H	6529	11042	OMIM:616421	Myoclonic-Atonic epilepsy	HP:0040283 - Occasional		29
HP:0002650	HP:0002650	Scoliosis	0	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional		13
HP:0002650	HP:0002650	Scoliosis	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		274
HP:0002650	HP:0002650	Scoliosis	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		7
HP:0002650	HP:0002650	Scoliosis	0	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6			7
HP:0002650	HP:0002650	Scoliosis	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent		260
HP:0002650	HP:0002650	Scoliosis	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		260
HP:0002650	HP:0002650	Scoliosis	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0002650	HP:0002650	Scoliosis	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		504
HP:0002650	HP:0002650	Scoliosis	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0002650	HP:0002650	Scoliosis	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0002650	HP:0002650	Scoliosis	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040282 - Frequent		146
HP:0002650	HP:0002650	Scoliosis	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		617
HP:0002650	HP:0002650	Scoliosis	0	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4	.		617
HP:0002650	HP:0002650	Scoliosis	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		87
HP:0002650	HP:0002650	Scoliosis	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3	.		87
HP:0002650	HP:0002650	Scoliosis	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		1
HP:0002650	HP:0002650	Scoliosis	0	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8	HP:0040284 - Very rare		1
HP:0002650	HP:0002650	Scoliosis	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0002650	HP:0002650	Scoliosis	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		47
HP:0002650	HP:0002650	Scoliosis	0	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		135
HP:0002650	HP:0002650	Scoliosis	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0002650	HP:0002650	Scoliosis	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		135
HP:0002650	HP:0002650	Scoliosis	0	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0002650	HP:0002650	Scoliosis	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0002650	HP:0002650	Scoliosis	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0002650	HP:0002650	Scoliosis	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002650	HP:0002650	Scoliosis	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0002650	HP:0002650	Scoliosis	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0002650	HP:0002650	Scoliosis	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.		6
HP:0002650	HP:0002650	Scoliosis	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0002650	HP:0002650	Scoliosis	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		37
HP:0002650	HP:0002650	Scoliosis	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		37
HP:0002650	HP:0002650	Scoliosis	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		37
HP:0002650	HP:0002650	Scoliosis	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0002650	HP:0002650	Scoliosis	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0002650	HP:0002650	Scoliosis	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	HP:0040283 - Occasional		14
HP:0002650	HP:0002650	Scoliosis	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0002650	HP:0002650	Scoliosis	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0002650	HP:0002650	Scoliosis	0	SORD CL E G H	6652	11184	OMIM:618912	SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0002650	HP:0002650	Scoliosis	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		315
HP:0002650	HP:0002650	Scoliosis	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0002650	HP:0002650	Scoliosis	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		30
HP:0002650	HP:0002650	Scoliosis	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		14
HP:0002650	HP:0002650	Scoliosis	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0002650	HP:0002650	Scoliosis	0	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency	HP:0040283 - Occasional		11
HP:0002650	HP:0002650	Scoliosis	0	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome			11
HP:0002650	HP:0002650	Scoliosis	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040281 - Very frequent		109
HP:0002650	HP:0002650	Scoliosis	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0002650	HP:0002650	Scoliosis	0	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII	.		34
HP:0002650	HP:0002650	Scoliosis	0	SPARC CL E G H	6678	11219	OMIM:616507	Osteogenesis imperfecta, type XVII	.		2
HP:0002650	HP:0002650	Scoliosis	0	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive			66
HP:0002650	HP:0002650	Scoliosis	0	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome	HP:0040283 - Occasional		19
HP:0002650	HP:0002650	Scoliosis	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040284 - Very rare		19
HP:0002650	HP:0002650	Scoliosis	0	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0002650	HP:0002650	Scoliosis	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0002650	HP:0002650	Scoliosis	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0002650	HP:0002650	Scoliosis	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040283 - Occasional		287
HP:0002650	HP:0002650	Scoliosis	0	SPG11 CL E G H	80208	11226	OMIM:616668	Charcot-Marie-Tooth disease, axonal, type 2X			287
HP:0002650	HP:0002650	Scoliosis	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		287
HP:0002650	HP:0002650	Scoliosis	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive	.		171
HP:0002650	HP:0002650	Scoliosis	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040283 - Occasional		171
HP:0002650	HP:0002650	Scoliosis	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0002650	HP:0002650	Scoliosis	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0002650	HP:0002650	Scoliosis	0	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome			3
HP:0002650	HP:0002650	Scoliosis	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002650	HP:0002650	Scoliosis	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0002650	HP:0002650	Scoliosis	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		54
HP:0002650	HP:0002650	Scoliosis	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0002650	HP:0002650	Scoliosis	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0002650	HP:0002650	Scoliosis	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional		23
HP:0002650	HP:0002650	Scoliosis	0	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy	.		12
HP:0002650	HP:0002650	Scoliosis	0	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG	HP:0040283 - Occasional		12
HP:0002650	HP:0002650	Scoliosis	0	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch			14
HP:0002650	HP:0002650	Scoliosis	0	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy			14
HP:0002650	HP:0002650	Scoliosis	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0002650	HP:0002650	Scoliosis	0	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040283 - Occasional		9
HP:0002650	HP:0002650	Scoliosis	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0002650	HP:0002650	Scoliosis	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.		1
HP:0002650	HP:0002650	Scoliosis	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0002650	HP:0002650	Scoliosis	0	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040282 - Frequent		110
HP:0002650	HP:0002650	Scoliosis	0	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome			110
HP:0002650	HP:0002650	Scoliosis	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0002650	HP:0002650	Scoliosis	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0002650	HP:0002650	Scoliosis	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		99
HP:0002650	HP:0002650	Scoliosis	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0002650	HP:0002650	Scoliosis	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome	.		124
HP:0002650	HP:0002650	Scoliosis	0	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome	HP:0040282 - Frequent		124
HP:0002650	HP:0002650	Scoliosis	0	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		124
HP:0002650	HP:0002650	Scoliosis	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		124
HP:0002650	HP:0002650	Scoliosis	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0002650	HP:0002650	Scoliosis	0	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K			73
HP:0002650	HP:0002650	Scoliosis	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040283 - Occasional		1
HP:0002650	HP:0002650	Scoliosis	0	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type	.		1129
HP:0002650	HP:0002650	Scoliosis	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		1129
HP:0002650	HP:0002650	Scoliosis	0	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040283 - Occasional		1129
HP:0002650	HP:0002650	Scoliosis	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0002650	HP:0002650	Scoliosis	0	SYNE1 CL E G H	23345	17089	OMIM:610743	Spinocerebellar ataxia, autosomal recessive 8	.		1129
HP:0002650	HP:0002650	Scoliosis	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		508
HP:0002650	HP:0002650	Scoliosis	0	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent		9
HP:0002650	HP:0002650	Scoliosis	0	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome	.		1
HP:0002650	HP:0002650	Scoliosis	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional		1
HP:0002650	HP:0002650	Scoliosis	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0002650	HP:0002650	Scoliosis	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0002650	HP:0002650	Scoliosis	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0002650	HP:0002650	Scoliosis	0	TANC2 CL E G H	26115	30212	OMIM:618906	INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS
HP:0002650	HP:0002650	Scoliosis	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent		15
HP:0002650	HP:0002650	Scoliosis	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0002650	HP:0002650	Scoliosis	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040283 - Occasional		16
HP:0002650	HP:0002650	Scoliosis	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0002650	HP:0002650	Scoliosis	0	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome	HP:0040283 - Occasional		52
HP:0002650	HP:0002650	Scoliosis	0	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO			52
HP:0002650	HP:0002650	Scoliosis	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0002650	HP:0002650	Scoliosis	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040283 - Occasional		13
HP:0002650	HP:0002650	Scoliosis	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0002650	HP:0002650	Scoliosis	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040282 - Frequent		22
HP:0002650	HP:0002650	Scoliosis	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0002650	HP:0002650	Scoliosis	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040283 - Occasional		32
HP:0002650	HP:0002650	Scoliosis	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.		32
HP:0002650	HP:0002650	Scoliosis	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0002650	HP:0002650	Scoliosis	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional		55
HP:0002650	HP:0002650	Scoliosis	0	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome	HP:0040282 - Frequent		123
HP:0002650	HP:0002650	Scoliosis	0	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome			123
HP:0002650	HP:0002650	Scoliosis	0	TBX6 CL E G H	6911	11605	ORPHA:1797	Autosomal dominant spondylocostal dysostosis	HP:0040281 - Very frequent		19
HP:0002650	HP:0002650	Scoliosis	0	TBX6 CL E G H	6911	11605	OMIM:122600	Spondylocostal dysostosis 5			19
HP:0002650	HP:0002650	Scoliosis	0	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26			28
HP:0002650	HP:0002650	Scoliosis	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.		1
HP:0002650	HP:0002650	Scoliosis	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0002650	HP:0002650	Scoliosis	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040283 - Occasional		241
HP:0002650	HP:0002650	Scoliosis	0	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		45
HP:0002650	HP:0002650	Scoliosis	0	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		76
HP:0002650	HP:0002650	Scoliosis	0	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18			31
HP:0002650	HP:0002650	Scoliosis	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0002650	HP:0002650	Scoliosis	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0002650	HP:0002650	Scoliosis	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		1
HP:0002650	HP:0002650	Scoliosis	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		1
HP:0002650	HP:0002650	Scoliosis	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0002650	HP:0002650	Scoliosis	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0002650	HP:0002650	Scoliosis	0	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome			12
HP:0002650	HP:0002650	Scoliosis	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		48
HP:0002650	HP:0002650	Scoliosis	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		238
HP:0002650	HP:0002650	Scoliosis	0	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040282 - Frequent		6
HP:0002650	HP:0002650	Scoliosis	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional		13
HP:0002650	HP:0002650	Scoliosis	0	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0002650	HP:0002650	Scoliosis	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		162
HP:0002650	HP:0002650	Scoliosis	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4			162
HP:0002650	HP:0002650	Scoliosis	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		85
HP:0002650	HP:0002650	Scoliosis	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0002650	HP:0002650	Scoliosis	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		239
HP:0002650	HP:0002650	Scoliosis	0	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent		239
HP:0002650	HP:0002650	Scoliosis	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0002650	HP:0002650	Scoliosis	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		253
HP:0002650	HP:0002650	Scoliosis	0	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent		253
HP:0002650	HP:0002650	Scoliosis	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0002650	HP:0002650	Scoliosis	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0002650	HP:0002650	Scoliosis	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0002650	HP:0002650	Scoliosis	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		32
HP:0002650	HP:0002650	Scoliosis	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		32
HP:0002650	HP:0002650	Scoliosis	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0002650	HP:0002650	Scoliosis	0	THPO CL E G H	7066	11795	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia	HP:0040282 - Frequent		23
HP:0002650	HP:0002650	Scoliosis	0	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12			2
HP:0002650	HP:0002650	Scoliosis	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		60
HP:0002650	HP:0002650	Scoliosis	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040284 - Very rare		103
HP:0002650	HP:0002650	Scoliosis	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.		1
HP:0002650	HP:0002650	Scoliosis	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040282 - Frequent		6
HP:0002650	HP:0002650	Scoliosis	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	HP:0040283 - Occasional		6
HP:0002650	HP:0002650	Scoliosis	0	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		39
HP:0002650	HP:0002650	Scoliosis	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0002650	HP:0002650	Scoliosis	0	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK			24
HP:0002650	HP:0002650	Scoliosis	0	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		45
HP:0002650	HP:0002650	Scoliosis	0	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		33
HP:0002650	HP:0002650	Scoliosis	0	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		82
HP:0002650	HP:0002650	Scoliosis	0	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		82
HP:0002650	HP:0002650	Scoliosis	0	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional		82
HP:0002650	HP:0002650	Scoliosis	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14			4
HP:0002650	HP:0002650	Scoliosis	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		171
HP:0002650	HP:0002650	Scoliosis	0	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		166
HP:0002650	HP:0002650	Scoliosis	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		166
HP:0002650	HP:0002650	Scoliosis	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.		1
HP:0002650	HP:0002650	Scoliosis	0	TMTC3 CL E G H	160418	26899	ORPHA:98892	Periventricular nodular heterotopia	HP:0040281 - Very frequent		5
HP:0002650	HP:0002650	Scoliosis	0	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B	.		37
HP:0002650	HP:0002650	Scoliosis	0	TNNI2 CL E G H	7136	11946	ORPHA:1147	Sheldon-Hall syndrome	HP:0040281 - Very frequent		37
HP:0002650	HP:0002650	Scoliosis	0	TNNT3 CL E G H	7140	11950	ORPHA:1147	Sheldon-Hall syndrome	HP:0040281 - Very frequent		43
HP:0002650	HP:0002650	Scoliosis	0	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0002650	HP:0002650	Scoliosis	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0002650	HP:0002650	Scoliosis	0	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant	.		47
HP:0002650	HP:0002650	Scoliosis	0	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.		54
HP:0002650	HP:0002650	Scoliosis	0	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy			54
HP:0002650	HP:0002650	Scoliosis	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		54
HP:0002650	HP:0002650	Scoliosis	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0002650	HP:0002650	Scoliosis	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			54
HP:0002650	HP:0002650	Scoliosis	0	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4			54
HP:0002650	HP:0002650	Scoliosis	0	TPM2 CL E G H	7169	12011	ORPHA:1147	Sheldon-Hall syndrome	HP:0040281 - Very frequent		54
HP:0002650	HP:0002650	Scoliosis	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		54
HP:0002650	HP:0002650	Scoliosis	0	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy			108
HP:0002650	HP:0002650	Scoliosis	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		108
HP:0002650	HP:0002650	Scoliosis	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0002650	HP:0002650	Scoliosis	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			108
HP:0002650	HP:0002650	Scoliosis	0	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1	.		108
HP:0002650	HP:0002650	Scoliosis	0	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040283 - Occasional		2
HP:0002650	HP:0002650	Scoliosis	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome	HP:0040282 - Frequent		27
HP:0002650	HP:0002650	Scoliosis	0	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	.		27
HP:0002650	HP:0002650	Scoliosis	0	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	HP:0040282 - Frequent		2
HP:0002650	HP:0002650	Scoliosis	0	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity	.		2
HP:0002650	HP:0002650	Scoliosis	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040283 - Occasional		46
HP:0002650	HP:0002650	Scoliosis	0	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked	.		46
HP:0002650	HP:0002650	Scoliosis	0	TRAPPC4 CL E G H	51399	19943	OMIM:618741	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA			1
HP:0002650	HP:0002650	Scoliosis	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		56
HP:0002650	HP:0002650	Scoliosis	0	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63			8
HP:0002650	HP:0002650	Scoliosis	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0002650	HP:0002650	Scoliosis	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040282 - Frequent		8
HP:0002650	HP:0002650	Scoliosis	0	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia	HP:0040282 - Frequent		133
HP:0002650	HP:0002650	Scoliosis	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia			133
HP:0002650	HP:0002650	Scoliosis	0	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040282 - Frequent		4
HP:0002650	HP:0002650	Scoliosis	0	TRIP4 CL E G H	9325	12310	OMIM:617066	Muscular dystrophy, congenital, Davignon-Chauveau type	.		4
HP:0002650	HP:0002650	Scoliosis	0	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1	HP:0040283 - Occasional		7
HP:0002650	HP:0002650	Scoliosis	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		7
HP:0002650	HP:0002650	Scoliosis	0	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3	HP:0040282 - Frequent		171
HP:0002650	HP:0002650	Scoliosis	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.		171
HP:0002650	HP:0002650	Scoliosis	0	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III	.		171
HP:0002650	HP:0002650	Scoliosis	0	TRPV4 CL E G H	59341	18083	ORPHA:93304	Autosomal dominant brachyolmia			214
HP:0002650	HP:0002650	Scoliosis	0	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3	.		214
HP:0002650	HP:0002650	Scoliosis	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.		214
HP:0002650	HP:0002650	Scoliosis	0	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia	HP:0040281 - Very frequent		214
HP:0002650	HP:0002650	Scoliosis	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	.		214
HP:0002650	HP:0002650	Scoliosis	0	TRPV4 CL E G H	59341	18083	OMIM:168400	Parastremmatic dwarfism	.		214
HP:0002650	HP:0002650	Scoliosis	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.		214
HP:0002650	HP:0002650	Scoliosis	0	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive	.		214
HP:0002650	HP:0002650	Scoliosis	0	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0002650	HP:0002650	Scoliosis	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040282 - Frequent		214
HP:0002650	HP:0002650	Scoliosis	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.		2
HP:0002650	HP:0002650	Scoliosis	0	TTC21B CL E G H	79809	25660	OMIM:613819	Short-Rib thoracic dysplasia 4 with or without polydactyly	.		132
HP:0002650	HP:0002650	Scoliosis	0	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39			11
HP:0002650	HP:0002650	Scoliosis	0	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	HP:0040282 - Frequent		11
HP:0002650	HP:0002650	Scoliosis	0	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		7128
HP:0002650	HP:0002650	Scoliosis	0	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy	.		7128
HP:0002650	HP:0002650	Scoliosis	0	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency	HP:0040282 - Frequent		62
HP:0002650	HP:0002650	Scoliosis	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent		106
HP:0002650	HP:0002650	Scoliosis	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0002650	HP:0002650	Scoliosis	0	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type			66
HP:0002650	HP:0002650	Scoliosis	0	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		14
HP:0002650	HP:0002650	Scoliosis	0	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		61
HP:0002650	HP:0002650	Scoliosis	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		18
HP:0002650	HP:0002650	Scoliosis	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		1
HP:0002650	HP:0002650	Scoliosis	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy			35
HP:0002650	HP:0002650	Scoliosis	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.		35
HP:0002650	HP:0002650	Scoliosis	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		2
HP:0002650	HP:0002650	Scoliosis	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0002650	HP:0002650	Scoliosis	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		278
HP:0002650	HP:0002650	Scoliosis	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	UFSP2 CL E G H	55325	25640	ORPHA:2114	Hip dysplasia, Beukes type	HP:0040283 - Occasional		2
HP:0002650	HP:0002650	Scoliosis	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	HP:0040283 - Occasional		23
HP:0002650	HP:0002650	Scoliosis	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent		23
HP:0002650	HP:0002650	Scoliosis	0	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency			44
HP:0002650	HP:0002650	Scoliosis	0	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040281 - Very frequent		33
HP:0002650	HP:0002650	Scoliosis	0	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14			33
HP:0002650	HP:0002650	Scoliosis	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		8
HP:0002650	HP:0002650	Scoliosis	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		1
HP:0002650	HP:0002650	Scoliosis	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0002650	HP:0002650	Scoliosis	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0002650	HP:0002650	Scoliosis	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional		27
HP:0002650	HP:0002650	Scoliosis	0	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic	.		2
HP:0002650	HP:0002650	Scoliosis	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002650	HP:0002650	Scoliosis	0	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence	HP:0040282 - Frequent		111
HP:0002650	HP:0002650	Scoliosis	0	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets	HP:0040283 - Occasional		104
HP:0002650	HP:0002650	Scoliosis	0	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy	HP:0040283 - Occasional		10
HP:0002650	HP:0002650	Scoliosis	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0002650	HP:0002650	Scoliosis	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040283 - Occasional		546
HP:0002650	HP:0002650	Scoliosis	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002650	HP:0002650	Scoliosis	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0002650	HP:0002650	Scoliosis	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent		83
HP:0002650	HP:0002650	Scoliosis	0	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures			1
HP:0002650	HP:0002650	Scoliosis	0	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2			27
HP:0002650	HP:0002650	Scoliosis	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0002650	HP:0002650	Scoliosis	0	WNT1 CL E G H	7471	12774	OMIM:615220	Osteogenesis imperfecta, type XV	.		12
HP:0002650	HP:0002650	Scoliosis	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		98
HP:0002650	HP:0002650	Scoliosis	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		40
HP:0002650	HP:0002650	Scoliosis	0	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome	HP:0040283 - Occasional		177
HP:0002650	HP:0002650	Scoliosis	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		125
HP:0002650	HP:0002650	Scoliosis	0	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent		14
HP:0002650	HP:0002650	Scoliosis	0	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040282 - Frequent		45
HP:0002650	HP:0002650	Scoliosis	0	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0002650	HP:0002650	Scoliosis	0	YWHAG CL E G H	7532	12852	OMIM:617665	Epileptic encephalopathy, early infantile, 56	.
HP:0002650	HP:0002650	Scoliosis	0	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	HP:0040281 - Very frequent		17
HP:0002650	HP:0002650	Scoliosis	0	ZC4H2 CL E G H	55906	24931	ORPHA:3454	Intellectual disability-developmental delay-contractures syndrome	HP:0040283 - Occasional		19
HP:0002650	HP:0002650	Scoliosis	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.		19
HP:0002650	HP:0002650	Scoliosis	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0002650	HP:0002650	Scoliosis	0	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040281 - Very frequent		10
HP:0002650	HP:0002650	Scoliosis	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional		362
HP:0002650	HP:0002650	Scoliosis	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional		362
HP:0002650	HP:0002650	Scoliosis	0	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6	HP:0040283 - Occasional		5
HP:0002650	HP:0002650	Scoliosis	0	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS			5
HP:0002650	HP:0002650	Scoliosis	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0002650	HP:0002650	Scoliosis	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0002650	HP:0002650	Scoliosis	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		34
HP:0002650	HP:0002650	Scoliosis	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		34
HP:0002650	HP:0002650	Scoliosis	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0002650	HP:0002650	Scoliosis	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0002650	HP:0002650	Scoliosis	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0002650	HP:0002650	Scoliosis	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0002650	HP:0002650	Scoliosis	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0002650	HP:0002650	Scoliosis	0	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		49
HP:0002650	HP:0002650	Scoliosis	0	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.		397
HP:0002650	HP:0002650	Scoliosis	0	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040283 - Occasional		397
HP:0002650	HP:0100884	Compensatory scoliosis	1	CL E G H
HP:0002650	HP:0002751	Kyphoscoliosis	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.		16
HP:0002650	HP:0002751	Kyphoscoliosis	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0002650	HP:0002751	Kyphoscoliosis	1	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset	.		72
HP:0002650	HP:0002751	Kyphoscoliosis	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0002650	HP:0002943	Thoracic scoliosis	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0002650	HP:0002943	Thoracic scoliosis	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0002650	HP:0002943	Thoracic scoliosis	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			127
HP:0002650	HP:0002751	Kyphoscoliosis	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		127
HP:0002650	HP:0002751	Kyphoscoliosis	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0002650	HP:0002751	Kyphoscoliosis	1	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3	.		4
HP:0002650	HP:0002751	Kyphoscoliosis	1	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17	.		1
HP:0002650	HP:0002943	Thoracic scoliosis	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			1
HP:0002650	HP:0002751	Kyphoscoliosis	1	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.		54
HP:0002650	HP:0002751	Kyphoscoliosis	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040283 - Occasional		89
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0002650	HP:0002943	Thoracic scoliosis	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent		404
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0002650	HP:0002751	Kyphoscoliosis	1	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0002650	HP:0002751	Kyphoscoliosis	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0002650	HP:0002751	Kyphoscoliosis	1	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4	.
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0002650	HP:0002751	Kyphoscoliosis	1	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0002650	HP:0002751	Kyphoscoliosis	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent		140
HP:0002650	HP:0002751	Kyphoscoliosis	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0002650	HP:0002751	Kyphoscoliosis	1	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.		2
HP:0002650	HP:0002751	Kyphoscoliosis	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.		169
HP:0002650	HP:0002751	Kyphoscoliosis	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.		169
HP:0002650	HP:0002751	Kyphoscoliosis	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent		38
HP:0002650	HP:0002751	Kyphoscoliosis	1	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2	.		38
HP:0002650	HP:0002751	Kyphoscoliosis	1	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040282 - Frequent		38
HP:0002650	HP:0002751	Kyphoscoliosis	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.		38
HP:0002650	HP:0002751	Kyphoscoliosis	1	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional		29
HP:0002650	HP:0002751	Kyphoscoliosis	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.	HP:0003577 - Congenital onset	101
HP:0002650	HP:0002751	Kyphoscoliosis	1	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII	HP:0040283 - Occasional		49
HP:0002650	HP:0002751	Kyphoscoliosis	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1	.		276
HP:0002650	HP:0002751	Kyphoscoliosis	1	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency	.		242
HP:0002650	HP:0002751	Kyphoscoliosis	1	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood	.
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0002650	HP:0002751	Kyphoscoliosis	1	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0002650	HP:0002751	Kyphoscoliosis	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0002650	HP:0002751	Kyphoscoliosis	1	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7			35
HP:0002650	HP:0002751	Kyphoscoliosis	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		65
HP:0002650	HP:0002943	Thoracic scoliosis	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			74
HP:0002650	HP:0002943	Thoracic scoliosis	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			53
HP:0002650	HP:0002943	Thoracic scoliosis	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			88
HP:0002650	HP:0002943	Thoracic scoliosis	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			139
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0002650	HP:0002751	Kyphoscoliosis	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040282 - Frequent		27
HP:0002650	HP:0002751	Kyphoscoliosis	1	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia	HP:0040282 - Frequent		165
HP:0002650	HP:0002751	Kyphoscoliosis	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.		165
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	CLCF1 CL E G H	23529	17412	OMIM:610313	Cold-Induced sweating syndrome 2	.		6
HP:0002650	HP:0002751	Kyphoscoliosis	1	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32			4
HP:0002650	HP:0002751	Kyphoscoliosis	1	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	HP:0040283 - Occasional		4
HP:0002650	HP:0002751	Kyphoscoliosis	1	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.		7
HP:0002650	HP:0002751	Kyphoscoliosis	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040283 - Occasional		52
HP:0002650	HP:0002751	Kyphoscoliosis	1	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional		65
HP:0002650	HP:0002751	Kyphoscoliosis	1	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2			65
HP:0002650	HP:0002943	Thoracic scoliosis	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			6
HP:0002650	HP:0002751	Kyphoscoliosis	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		6
HP:0002650	HP:0002751	Kyphoscoliosis	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional		243
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional		243
HP:0002650	HP:0002751	Kyphoscoliosis	1	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis	HP:0040281 - Very frequent		284
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0002650	HP:0002751	Kyphoscoliosis	1	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0002650	HP:0002943	Thoracic scoliosis	1	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040283 - Occasional		284
HP:0002650	HP:0002751	Kyphoscoliosis	1	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type	.		284
HP:0002650	HP:0002751	Kyphoscoliosis	1	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040283 - Occasional		284
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive	.		478
HP:0002650	HP:0002751	Kyphoscoliosis	1	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.		24
HP:0002650	HP:0002751	Kyphoscoliosis	1	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040283 - Occasional
HP:0002650	HP:0002751	Kyphoscoliosis	1	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	.		17
HP:0002650	HP:0002943	Thoracic scoliosis	1	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy			263
HP:0002650	HP:0002751	Kyphoscoliosis	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0002650	HP:0002751	Kyphoscoliosis	1	DLL3 CL E G H	10683	2909	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0002650	HP:0002943	Thoracic scoliosis	1	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers			1496
HP:0002650	HP:0002751	Kyphoscoliosis	1	DNA2 CL E G H	1763	2939	OMIM:615807	Seckel syndrome 8	.		41
HP:0002650	HP:0002751	Kyphoscoliosis	1	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040282 - Frequent		44
HP:0002650	HP:0002943	Thoracic scoliosis	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			91
HP:0002650	HP:0002751	Kyphoscoliosis	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040282 - Frequent		13
HP:0002650	HP:0002751	Kyphoscoliosis	1	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23	HP:0040282 - Frequent		13
HP:0002650	HP:0002751	Kyphoscoliosis	1	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0002650	HP:0002751	Kyphoscoliosis	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0002650	HP:0002751	Kyphoscoliosis	1	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0002650	HP:0002751	Kyphoscoliosis	1	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		58
HP:0002650	HP:0002751	Kyphoscoliosis	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0002650	HP:0002751	Kyphoscoliosis	1	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.		20
HP:0002650	HP:0002751	Kyphoscoliosis	1	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0002650	HP:0002751	Kyphoscoliosis	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.		199
HP:0002650	HP:0002943	Thoracic scoliosis	1	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62	HP:0040283 - Occasional		2
HP:0002650	HP:0002943	Thoracic scoliosis	1	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive	HP:0040283 - Occasional		2
HP:0002650	HP:0002751	Kyphoscoliosis	1	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040282 - Frequent		3
HP:0002650	HP:0002751	Kyphoscoliosis	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.		3
HP:0002650	HP:0002751	Kyphoscoliosis	1	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040283 - Occasional		36
HP:0002650	HP:0002751	Kyphoscoliosis	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0002650	HP:0002751	Kyphoscoliosis	1	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly			655
HP:0002650	HP:0002751	Kyphoscoliosis	1	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0002650	HP:0002751	Kyphoscoliosis	1	FKBP10 CL E G H	60681	18169	OMIM:610968	Osteogenesis imperfecta, type XI	.		61
HP:0002650	HP:0002751	Kyphoscoliosis	1	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	.		13
HP:0002650	HP:0002751	Kyphoscoliosis	1	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency	HP:0040281 - Very frequent		13
HP:0002650	HP:0002751	Kyphoscoliosis	1	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040283 - Occasional		157
HP:0002650	HP:0002751	Kyphoscoliosis	1	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040283 - Occasional		184
HP:0002650	HP:0002751	Kyphoscoliosis	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.		493
HP:0002650	HP:0002751	Kyphoscoliosis	1	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	.		3
HP:0002650	HP:0002751	Kyphoscoliosis	1	GDAP1 CL E G H	54332	15968	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K	.		108
HP:0002650	HP:0002751	Kyphoscoliosis	1	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A	HP:0040282 - Frequent		108
HP:0002650	HP:0002943	Thoracic scoliosis	1	GDF3 CL E G H	9573	4218	OMIM:613702	Klippel-Feil syndrome 3, autosomal dominant			7
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	HP:0040283 - Occasional		143
HP:0002650	HP:0002751	Kyphoscoliosis	1	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002650	HP:0002751	Kyphoscoliosis	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0002650	HP:0002943	Thoracic scoliosis	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0002650	HP:0002751	Kyphoscoliosis	1	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.		52
HP:0002650	HP:0002751	Kyphoscoliosis	1	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia	.
HP:0002650	HP:0002751	Kyphoscoliosis	1	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome	.
HP:0002650	HP:0002751	Kyphoscoliosis	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0002650	HP:0002751	Kyphoscoliosis	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040282 - Frequent		16
HP:0002650	HP:0002751	Kyphoscoliosis	1	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.		86
HP:0002650	HP:0002943	Thoracic scoliosis	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040284 - Very rare		12
HP:0002650	HP:0002751	Kyphoscoliosis	1	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13	HP:0040283 - Occasional		2
HP:0002650	HP:0002751	Kyphoscoliosis	1	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		113
HP:0002650	HP:0002751	Kyphoscoliosis	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0002650	HP:0002751	Kyphoscoliosis	1	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX			28
HP:0002650	HP:0002943	Thoracic scoliosis	1	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome			25
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0002650	HP:0002751	Kyphoscoliosis	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.		52
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0002650	HP:0002943	Thoracic scoliosis	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0002650	HP:0002751	Kyphoscoliosis	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0002650	HP:0002751	Kyphoscoliosis	1	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0002650	HP:0002751	Kyphoscoliosis	1	JPH1 CL E G H	56704	14201	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K	.		1
HP:0002650	HP:0002751	Kyphoscoliosis	1	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1	HP:0040283 - Occasional		145
HP:0002650	HP:0002751	Kyphoscoliosis	1	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040283 - Occasional		14
HP:0002650	HP:0002751	Kyphoscoliosis	1	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		196
HP:0002650	HP:0002751	Kyphoscoliosis	1	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	HP:0040282 - Frequent		3
HP:0002650	HP:0002751	Kyphoscoliosis	1	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient			411
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome			51
HP:0002650	HP:0002751	Kyphoscoliosis	1	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome			51
HP:0002650	HP:0002751	Kyphoscoliosis	1	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1	.		645
HP:0002650	HP:0002943	Thoracic scoliosis	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0002650	HP:0002943	Thoracic scoliosis	1	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			124
HP:0002650	HP:0002751	Kyphoscoliosis	1	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome	.		125
HP:0002650	HP:0002751	Kyphoscoliosis	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1	.		134
HP:0002650	HP:0002751	Kyphoscoliosis	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0002650	HP:0002751	Kyphoscoliosis	1	MAPT CL E G H	4137	6893	OMIM:260540	Supranuclear palsy, progressive atypical	.		140
HP:0002650	HP:0002751	Kyphoscoliosis	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0002650	HP:0002751	Kyphoscoliosis	1	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome	HP:0040283 - Occasional		950
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0002650	HP:0002751	Kyphoscoliosis	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0002650	HP:0002751	Kyphoscoliosis	1	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome	HP:0040283 - Occasional		13
HP:0002650	HP:0002751	Kyphoscoliosis	1	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0002650	HP:0002751	Kyphoscoliosis	1	MESP2 CL E G H	145873	29659	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0002650	HP:0002751	Kyphoscoliosis	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0002650	HP:0002751	Kyphoscoliosis	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0002650	HP:0002751	Kyphoscoliosis	1	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0002650	HP:0002943	Thoracic scoliosis	1	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB	.		37
HP:0002650	HP:0002943	Thoracic scoliosis	1	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional		37
HP:0002650	HP:0002751	Kyphoscoliosis	1	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B	HP:0040282 - Frequent		134
HP:0002650	HP:0002751	Kyphoscoliosis	1	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		134
HP:0002650	HP:0002751	Kyphoscoliosis	1	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent		134
HP:0002650	HP:0002751	Kyphoscoliosis	1	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.		134
HP:0002650	HP:0002751	Kyphoscoliosis	1	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32	.		1
HP:0002650	HP:0002943	Thoracic scoliosis	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040283 - Occasional
HP:0002650	HP:0002751	Kyphoscoliosis	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040283 - Occasional		81
HP:0002650	HP:0002943	Thoracic scoliosis	1	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			72
HP:0002650	HP:0002751	Kyphoscoliosis	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0002650	HP:0002751	Kyphoscoliosis	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.		166
HP:0002650	HP:0002943	Thoracic scoliosis	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive			1269
HP:0002650	HP:0002751	Kyphoscoliosis	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism	.		5
HP:0002650	HP:0002751	Kyphoscoliosis	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional
HP:0002650	HP:0002943	Thoracic scoliosis	1	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional		217
HP:0002650	HP:0002751	Kyphoscoliosis	1	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.	HP:0003577 - Congenital onset	23
HP:0002650	HP:0002751	Kyphoscoliosis	1	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D	HP:0040283 - Occasional		82
HP:0002650	HP:0002751	Kyphoscoliosis	1	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8	.		22
HP:0002650	HP:0002943	Thoracic scoliosis	1	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10	.		9
HP:0002650	HP:0002751	Kyphoscoliosis	1	NEMF CL E G H	9147	10663	OMIM:619099	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN			1
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0002650	HP:0002751	Kyphoscoliosis	1	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0002650	HP:0002751	Kyphoscoliosis	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040284 - Very rare		1952
HP:0002650	HP:0002751	Kyphoscoliosis	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional		40
HP:0002650	HP:0002943	Thoracic scoliosis	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0002650	HP:0002751	Kyphoscoliosis	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type			55
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7			55
HP:0002650	HP:0002751	Kyphoscoliosis	1	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0002650	HP:0002943	Thoracic scoliosis	1	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0002650	HP:0002751	Kyphoscoliosis	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040282 - Frequent		10
HP:0002650	HP:0002751	Kyphoscoliosis	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0002650	HP:0002751	Kyphoscoliosis	1	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.		138
HP:0002650	HP:0002751	Kyphoscoliosis	1	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		102
HP:0002650	HP:0002751	Kyphoscoliosis	1	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040281 - Very frequent		34
HP:0002650	HP:0002751	Kyphoscoliosis	1	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	PAPSS2 CL E G H	9060	8604	OMIM:612847	Brachyolmia 4 with mild epiphyseal and metaphyseal changes			20
HP:0002650	HP:0002751	Kyphoscoliosis	1	PAPSS2 CL E G H	9060	8604	OMIM:612847	Brachyolmia 4 with mild epiphyseal and metaphyseal changes	.		20
HP:0002650	HP:0002943	Thoracic scoliosis	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome	.		28
HP:0002650	HP:0002943	Thoracic scoliosis	1	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0002650	HP:0002751	Kyphoscoliosis	1	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1	.		72
HP:0002650	HP:0002751	Kyphoscoliosis	1	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.		77
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.		77
HP:0002650	HP:0002943	Thoracic scoliosis	1	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome	.		12
HP:0002650	HP:0002751	Kyphoscoliosis	1	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0002650	HP:0008458	Progressive congenital scoliosis	1	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.		105
HP:0002650	HP:0002943	Thoracic scoliosis	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040282 - Frequent		105
HP:0002650	HP:0002751	Kyphoscoliosis	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent		150
HP:0002650	HP:0002751	Kyphoscoliosis	1	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A	HP:0040283 - Occasional		79
HP:0002650	HP:0002751	Kyphoscoliosis	1	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A	.		79
HP:0002650	HP:0002751	Kyphoscoliosis	1	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		79
HP:0002650	HP:0002751	Kyphoscoliosis	1	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent		79
HP:0002650	HP:0002751	Kyphoscoliosis	1	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.		79
HP:0002650	HP:0002751	Kyphoscoliosis	1	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4	HP:0040283 - Occasional		244
HP:0002650	HP:0002751	Kyphoscoliosis	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0002650	HP:0002751	Kyphoscoliosis	1	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040283 - Occasional		213
HP:0002650	HP:0002751	Kyphoscoliosis	1	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2			6
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2			6
HP:0002650	HP:0002751	Kyphoscoliosis	1	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0002650	HP:0002751	Kyphoscoliosis	1	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0002650	HP:0002751	Kyphoscoliosis	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		2
HP:0002650	HP:0002943	Thoracic scoliosis	1	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0002650	HP:0002751	Kyphoscoliosis	1	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		170
HP:0002650	HP:0002751	Kyphoscoliosis	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome	.		665
HP:0002650	HP:0002751	Kyphoscoliosis	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome	.		40
HP:0002650	HP:0002751	Kyphoscoliosis	1	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.		291
HP:0002650	HP:0002751	Kyphoscoliosis	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1	.		291
HP:0002650	HP:0002943	Thoracic scoliosis	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional		19
HP:0002650	HP:0002943	Thoracic scoliosis	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional		19
HP:0002650	HP:0002943	Thoracic scoliosis	1	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0002650	HP:0002751	Kyphoscoliosis	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.		85
HP:0002650	HP:0002751	Kyphoscoliosis	1	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome	HP:0040283 - Occasional		31
HP:0002650	HP:0002751	Kyphoscoliosis	1	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1	.		90
HP:0002650	HP:0002943	Thoracic scoliosis	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0002650	HP:0002943	Thoracic scoliosis	1	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0002650	HP:0002943	Thoracic scoliosis	1	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			73
HP:0002650	HP:0002943	Thoracic scoliosis	1	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome	.		68
HP:0002650	HP:0002751	Kyphoscoliosis	1	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome	.		1
HP:0002650	HP:0002751	Kyphoscoliosis	1	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040282 - Frequent		1
HP:0002650	HP:0002751	Kyphoscoliosis	1	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1	.		90
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1	.		120
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.		120
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0002650	HP:0002751	Kyphoscoliosis	1	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19			65
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040282 - Frequent		2
HP:0002650	HP:0002751	Kyphoscoliosis	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040281 - Very frequent		2
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.		2
HP:0002650	HP:0002751	Kyphoscoliosis	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0002650	HP:0002751	Kyphoscoliosis	1	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040282 - Frequent		1200
HP:0002650	HP:0002751	Kyphoscoliosis	1	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0002650	HP:0002751	Kyphoscoliosis	1	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0002650	HP:0002751	Kyphoscoliosis	1	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2	.		180
HP:0002650	HP:0002943	Thoracic scoliosis	1	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			263
HP:0002650	HP:0002751	Kyphoscoliosis	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0002650	HP:0002751	Kyphoscoliosis	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional		143
HP:0002650	HP:0002943	Thoracic scoliosis	1	SGCA CL E G H	6442	10805	ORPHA:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3	HP:0040283 - Occasional		132
HP:0002650	HP:0002751	Kyphoscoliosis	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0002650	HP:0002751	Kyphoscoliosis	1	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	.
HP:0002650	HP:0002751	Kyphoscoliosis	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040282 - Frequent		57
HP:0002650	HP:0002751	Kyphoscoliosis	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0002650	HP:0002751	Kyphoscoliosis	1	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41	.		3
HP:0002650	HP:0002751	Kyphoscoliosis	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		28
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0002650	HP:0002751	Kyphoscoliosis	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0002650	HP:0002751	Kyphoscoliosis	1	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia	.		166
HP:0002650	HP:0002751	Kyphoscoliosis	1	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0002650	HP:0002751	Kyphoscoliosis	1	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	HP:0040283 - Occasional		47
HP:0002650	HP:0002751	Kyphoscoliosis	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		9
HP:0002650	HP:0002751	Kyphoscoliosis	1	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.		19
HP:0002650	HP:0002751	Kyphoscoliosis	1	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040281 - Very frequent		19
HP:0002650	HP:0002751	Kyphoscoliosis	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0002650	HP:0002751	Kyphoscoliosis	1	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040282 - Frequent		14
HP:0002650	HP:0002751	Kyphoscoliosis	1	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0002650	HP:0002751	Kyphoscoliosis	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0002650	HP:0002943	Thoracic scoliosis	1	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency			11
HP:0002650	HP:0002751	Kyphoscoliosis	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.		109
HP:0002650	HP:0002943	Thoracic scoliosis	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0002650	HP:0002751	Kyphoscoliosis	1	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.		66
HP:0002650	HP:0002751	Kyphoscoliosis	1	SPG11 CL E G H	80208	11226	OMIM:616668	Charcot-Marie-Tooth disease, axonal, type 2X	HP:0040283 - Occasional		287
HP:0002650	HP:0002943	Thoracic scoliosis	1	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome			3
HP:0002650	HP:0002751	Kyphoscoliosis	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional		138
HP:0002650	HP:0002751	Kyphoscoliosis	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0002650	HP:0002751	Kyphoscoliosis	1	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	.		14
HP:0002650	HP:0008458	Progressive congenital scoliosis	1	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040282 - Frequent		14
HP:0002650	HP:0002751	Kyphoscoliosis	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome	.		124
HP:0002650	HP:0002751	Kyphoscoliosis	1	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K			73
HP:0002650	HP:0002751	Kyphoscoliosis	1	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0002650	HP:0002751	Kyphoscoliosis	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		4
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0002650	HP:0002943	Thoracic scoliosis	1	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome	.		123
HP:0002650	HP:0002751	Kyphoscoliosis	1	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18	.		31
HP:0002650	HP:0002751	Kyphoscoliosis	1	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional		12
HP:0002650	HP:0002751	Kyphoscoliosis	1	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome	.		12
HP:0002650	HP:0002751	Kyphoscoliosis	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0002650	HP:0002751	Kyphoscoliosis	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0002650	HP:0002751	Kyphoscoliosis	1	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK	.		24
HP:0002650	HP:0002751	Kyphoscoliosis	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0002650	HP:0002751	Kyphoscoliosis	1	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0002650	HP:0002751	Kyphoscoliosis	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0002650	HP:0002943	Thoracic scoliosis	1	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional		54
HP:0002650	HP:0002751	Kyphoscoliosis	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0002650	HP:0002751	Kyphoscoliosis	1	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4	.		54
HP:0002650	HP:0002943	Thoracic scoliosis	1	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional		108
HP:0002650	HP:0002751	Kyphoscoliosis	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0002650	HP:0002751	Kyphoscoliosis	1	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040283 - Occasional		46
HP:0002650	HP:0002751	Kyphoscoliosis	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		7
HP:0002650	HP:0002751	Kyphoscoliosis	1	TRPV4 CL E G H	59341	18083	ORPHA:93304	Autosomal dominant brachyolmia	HP:0040281 - Very frequent		214
HP:0002650	HP:0002751	Kyphoscoliosis	1	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0002650	HP:0002751	Kyphoscoliosis	1	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type	.		214
HP:0002650	HP:0002751	Kyphoscoliosis	1	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39	.		11
HP:0002650	HP:0002751	Kyphoscoliosis	1	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	HP:0040282 - Frequent		11
HP:0002650	HP:0002751	Kyphoscoliosis	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional		64
HP:0002650	HP:0002943	Thoracic scoliosis	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional		64
HP:0002650	HP:0002751	Kyphoscoliosis	1	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type	HP:0040283 - Occasional		66
HP:0002650	HP:0002751	Kyphoscoliosis	1	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040283 - Occasional		35
HP:0002650	HP:0002944	Thoracolumbar scoliosis	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional		27
HP:0002650	HP:0002751	Kyphoscoliosis	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0002650	HP:0002943	Thoracic scoliosis	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.		546
HP:0002650	HP:0002751	Kyphoscoliosis	1	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures	.		1
HP:0002650	HP:0002943	Thoracic scoliosis	1	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2	.		27
HP:0002650	HP:0002943	Thoracic scoliosis	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0002650	HP:0002751	Kyphoscoliosis	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.		83
HP:0002650	HP:0005659	Thoracic kyphoscoliosis	2	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		127
HP:0002650	HP:0005659	Thoracic kyphoscoliosis	2	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		1
HP:0002650	HP:0004626	Lumbar scoliosis	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent		404
HP:0002650	HP:0004626	Lumbar scoliosis	2	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0002650	HP:0004626	Lumbar scoliosis	2	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0002650	HP:0004626	Lumbar scoliosis	2	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0002650	HP:0004619	Lumbar kyphoscoliosis	2	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0002650	HP:0004626	Lumbar scoliosis	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare		5
HP:0002650	HP:0008453	Congenital kyphoscoliosis	2	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional		38
HP:0002650	HP:0003423	Thoracolumbar kyphoscoliosis	2	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040282 - Frequent
HP:0002650	HP:0003423	Thoracolumbar kyphoscoliosis	2	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040282 - Frequent		2
HP:0002650	HP:0005659	Thoracic kyphoscoliosis	2	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		74
HP:0002650	HP:0005659	Thoracic kyphoscoliosis	2	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		53
HP:0002650	HP:0005659	Thoracic kyphoscoliosis	2	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		88
HP:0002650	HP:0005659	Thoracic kyphoscoliosis	2	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		139
HP:0002650	HP:0005659	Thoracic kyphoscoliosis	2	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		6
HP:0002650	HP:0004619	Lumbar kyphoscoliosis	2	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.		284
HP:0002650	HP:0004626	Lumbar scoliosis	2	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0002650	HP:0005659	Thoracic kyphoscoliosis	2	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy	HP:0040283 - Occasional		263
HP:0002650	HP:0005659	Thoracic kyphoscoliosis	2	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		91
HP:0002650	HP:0008453	Congenital kyphoscoliosis	2	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly	HP:0040281 - Very frequent		655
HP:0002650	HP:0008453	Congenital kyphoscoliosis	2	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.		655
HP:0002650	HP:0004626	Lumbar scoliosis	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0002650	HP:0003423	Thoracolumbar kyphoscoliosis	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.		240
HP:0002650	HP:0004626	Lumbar scoliosis	2	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX			28
HP:0002650	HP:0005659	Thoracic kyphoscoliosis	2	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	HP:0040281 - Very frequent		25
HP:0002650	HP:0004626	Lumbar scoliosis	2	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0002650	HP:0005659	Thoracic kyphoscoliosis	2	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0002650	HP:0003423	Thoracolumbar kyphoscoliosis	2	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome	HP:0040281 - Very frequent		51
HP:0002650	HP:0005659	Thoracic kyphoscoliosis	2	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		645
HP:0002650	HP:0004626	Lumbar scoliosis	2	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome	.		8
HP:0002650	HP:0005659	Thoracic kyphoscoliosis	2	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		124
HP:0002650	HP:0003423	Thoracolumbar kyphoscoliosis	2	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.		39
HP:0002650	HP:0005659	Thoracic kyphoscoliosis	2	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		72
HP:0002650	HP:0003423	Thoracolumbar kyphoscoliosis	2	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0002650	HP:0004626	Lumbar scoliosis	2	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type	HP:0040282 - Frequent		55
HP:0002650	HP:0004626	Lumbar scoliosis	2	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7	.		55
HP:0002650	HP:0005659	Thoracic kyphoscoliosis	2	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0002650	HP:0004626	Lumbar scoliosis	2	PAPSS2 CL E G H	9060	8604	OMIM:612847	Brachyolmia 4 with mild epiphyseal and metaphyseal changes	.		20
HP:0002650	HP:0005659	Thoracic kyphoscoliosis	2	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0002650	HP:0005659	Thoracic kyphoscoliosis	2	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040281 - Very frequent		105
HP:0002650	HP:0003423	Thoracolumbar kyphoscoliosis	2	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	.		6
HP:0002650	HP:0005659	Thoracic kyphoscoliosis	2	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional		11
HP:0002650	HP:0005659	Thoracic kyphoscoliosis	2	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		73
HP:0002650	HP:0004626	Lumbar scoliosis	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0002650	HP:0005659	Thoracic kyphoscoliosis	2	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		263
HP:0002650	HP:0003423	Thoracolumbar kyphoscoliosis	2	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent		166
HP:0002650	HP:0005659	Thoracic kyphoscoliosis	2	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency	HP:0040282 - Frequent		11
HP:0002650	HP:0005659	Thoracic kyphoscoliosis	2	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome	.		3
HP:0002650	HP:0004626	Lumbar scoliosis	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare		271
HP:0002650	HP:0005659	Thoracic kyphoscoliosis	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		83
HP:0002650	HP:0004619	Lumbar kyphoscoliosis	3	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0002650	HP:0004619	Lumbar kyphoscoliosis	3	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.		284