Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		127
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		1
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome		87
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome		102
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		74
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		53
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		88
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		139
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		6
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type		284
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type		284
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy		263
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers		1496
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		91
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62		2
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive		2
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia		145
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040283 - Occasional	8
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III		233
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	GDF3 CL E G H	9573	4218	OMIM:613702	Klippel-Feil syndrome 3, autosomal dominant		7
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II		120
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII		54
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia		12
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome		25
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations		14
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome		51
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		124
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa		39
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB		37
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG		37
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		72
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy		217
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10		9
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia		10
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type		53
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome		23
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome		12
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency		105
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2		6
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy		11
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		73
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome		68
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia		37
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040282 - Frequent	80
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		263
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	SGCA CL E G H	6442	10805	ORPHA:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3		132
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II		166
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency		11
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome		3
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome		80
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3		33
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy		54
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy		108
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda		46
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation		64
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome		546
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		1
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2		27
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome		5
HP:0100711	HP:0100711	Abnormal thoracic spine morphology	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0100711	HP:0041073	Fractured thoracic vertebra	1	CL E G H
HP:0100711	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:0100711	HP:0002943	Thoracic scoliosis	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0100711	HP:0002943	Thoracic scoliosis	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		127
HP:0100711	HP:0002942	Thoracic kyphosis	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.	60
HP:0100711	HP:0002943	Thoracic scoliosis	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		1
HP:0100711	HP:0002942	Thoracic kyphosis	1	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome	.	87
HP:0100711	HP:0002943	Thoracic scoliosis	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent	404
HP:0100711	HP:0002942	Thoracic kyphosis	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0100711	HP:0002942	Thoracic kyphosis	1	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent	102
HP:0100711	HP:0002942	Thoracic kyphosis	1	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.	102
HP:0100711	HP:0002942	Thoracic kyphosis	1	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0100711	HP:0002942	Thoracic kyphosis	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0100711	HP:0002942	Thoracic kyphosis	1	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0100711	HP:0002942	Thoracic kyphosis	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0100711	HP:0002943	Thoracic scoliosis	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		74
HP:0100711	HP:0002943	Thoracic scoliosis	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		53
HP:0100711	HP:0002943	Thoracic scoliosis	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		88
HP:0100711	HP:0002943	Thoracic scoliosis	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		139
HP:0100711	HP:0002943	Thoracic scoliosis	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		6
HP:0100711	HP:0002942	Thoracic kyphosis	1	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type	.	284
HP:0100711	HP:0002943	Thoracic scoliosis	1	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040283 - Occasional	284
HP:0100711	HP:0002942	Thoracic kyphosis	1	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0100711	HP:0002942	Thoracic kyphosis	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional	114
HP:0100711	HP:0002943	Thoracic scoliosis	1	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy		263
HP:0100711	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:0100711	HP:0002942	Thoracic kyphosis	1	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers		1496
HP:0100711	HP:0002943	Thoracic scoliosis	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		91
HP:0100711	HP:0002942	Thoracic kyphosis	1	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.	65
HP:0100711	HP:0002942	Thoracic kyphosis	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0100711	HP:0002942	Thoracic kyphosis	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0100711	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:0100711	HP:0002943	Thoracic scoliosis	1	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive	HP:0040283 - Occasional	2
HP:0100711	HP:0002942	Thoracic kyphosis	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0100711	HP:0002942	Thoracic kyphosis	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0100711	HP:0002942	Thoracic kyphosis	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0100711	HP:0002942	Thoracic kyphosis	1	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia		145
HP:0100711	HP:0002942	Thoracic kyphosis	1	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III		233
HP:0100711	HP:0002942	Thoracic kyphosis	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0100711	HP:0002943	Thoracic scoliosis	1	GDF3 CL E G H	9573	4218	OMIM:613702	Klippel-Feil syndrome 3, autosomal dominant		7
HP:0100711	HP:0002942	Thoracic kyphosis	1	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II		120
HP:0100711	HP:0002942	Thoracic kyphosis	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0100711	HP:0002943	Thoracic scoliosis	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0100711	HP:0002942	Thoracic kyphosis	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0100711	HP:0002942	Thoracic kyphosis	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0100711	HP:0002942	Thoracic kyphosis	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII		54
HP:0100711	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:0100711	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:0100711	HP:0002943	Thoracic scoliosis	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0100711	HP:0002942	Thoracic kyphosis	1	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations		14
HP:0100711	HP:0002942	Thoracic kyphosis	1	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0100711	HP:0002942	Thoracic kyphosis	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0100711	HP:0002942	Thoracic kyphosis	1	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome		51
HP:0100711	HP:0002943	Thoracic scoliosis	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0100711	HP:0002943	Thoracic scoliosis	1	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		124
HP:0100711	HP:0002942	Thoracic kyphosis	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0100711	HP:0002942	Thoracic kyphosis	1	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0100711	HP:0002942	Thoracic kyphosis	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa		39
HP:0100711	HP:0002943	Thoracic scoliosis	1	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB	.	37
HP:0100711	HP:0002943	Thoracic scoliosis	1	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional	37
HP:0100711	HP:0002942	Thoracic kyphosis	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0100711	HP:0002943	Thoracic scoliosis	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040283 - Occasional
HP:0100711	HP:0002943	Thoracic scoliosis	1	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		72
HP:0100711	HP:0002943	Thoracic scoliosis	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0100711	HP:0002943	Thoracic scoliosis	1	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	217
HP:0100711	HP:0002942	Thoracic kyphosis	1	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0100711	HP:0002943	Thoracic scoliosis	1	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10	.	9
HP:0100711	HP:0002942	Thoracic kyphosis	1	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0100711	HP:0002942	Thoracic kyphosis	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0100711	HP:0002943	Thoracic scoliosis	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0100711	HP:0002943	Thoracic scoliosis	1	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia		10
HP:0100711	HP:0002942	Thoracic kyphosis	1	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type		53
HP:0100711	HP:0002943	Thoracic scoliosis	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0100711	HP:0002943	Thoracic scoliosis	1	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0100711	HP:0002942	Thoracic kyphosis	1	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome	.	23
HP:0100711	HP:0002942	Thoracic kyphosis	1	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040283 - Occasional
HP:0100711	HP:0002942	Thoracic kyphosis	1	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome	.
HP:0100711	HP:0002943	Thoracic scoliosis	1	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome	.	12
HP:0100711	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:0100711	HP:0002942	Thoracic kyphosis	1	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2		6
HP:0100711	HP:0002943	Thoracic scoliosis	1	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0100711	HP:0002942	Thoracic kyphosis	1	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0100711	HP:0002943	Thoracic scoliosis	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0100711	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:0100711	HP:0002942	Thoracic kyphosis	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0100711	HP:0002943	Thoracic scoliosis	1	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy		11
HP:0100711	HP:0002943	Thoracic scoliosis	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0100711	HP:0002943	Thoracic scoliosis	1	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0100711	HP:0002943	Thoracic scoliosis	1	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		73
HP:0100711	HP:0002943	Thoracic scoliosis	1	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome	.	68
HP:0100711	HP:0002942	Thoracic kyphosis	1	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia		37
HP:0100711	HP:0002942	Thoracic kyphosis	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0100711	HP:0002942	Thoracic kyphosis	1	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0100711	HP:0002943	Thoracic scoliosis	1	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		263
HP:0100711	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:0100711	HP:0002942	Thoracic kyphosis	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II		166
HP:0100711	HP:0002942	Thoracic kyphosis	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0100711	HP:0002943	Thoracic scoliosis	1	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency		11
HP:0100711	HP:0002943	Thoracic scoliosis	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0100711	HP:0002943	Thoracic scoliosis	1	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome		3
HP:0100711	HP:0002942	Thoracic kyphosis	1	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome	.	80
HP:0100711	HP:0002942	Thoracic kyphosis	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0100711	HP:0002943	Thoracic scoliosis	1	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome	.	123
HP:0100711	HP:0002942	Thoracic kyphosis	1	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent	33
HP:0100711	HP:0002942	Thoracic kyphosis	1	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0100711	HP:0002943	Thoracic scoliosis	1	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	54
HP:0100711	HP:0002943	Thoracic scoliosis	1	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	108
HP:0100711	HP:0002942	Thoracic kyphosis	1	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040283 - Occasional	46
HP:0100711	HP:0002942	Thoracic kyphosis	1	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040283 - Occasional	214
HP:0100711	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:0100711	HP:0002943	Thoracic scoliosis	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.	546
HP:0100711	HP:0002942	Thoracic kyphosis	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional	1
HP:0100711	HP:0002942	Thoracic kyphosis	1	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2	.	27
HP:0100711	HP:0002943	Thoracic scoliosis	1	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2	.	27
HP:0100711	HP:0002942	Thoracic kyphosis	1	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040281 - Very frequent	5
HP:0100711	HP:0002943	Thoracic scoliosis	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0100711	HP:0041084	Compression-fractured thoracic vertebra	2	CL E G H
HP:0100711	HP:0005659	Thoracic kyphoscoliosis	2	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	127
HP:0100711	HP:0005659	Thoracic kyphoscoliosis	2	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	1
HP:0100711	HP:0005619	Thoracolumbar kyphosis	2	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0100711	HP:0005619	Thoracolumbar kyphosis	2	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0100711	HP:0005619	Thoracolumbar kyphosis	2	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0100711	HP:0005659	Thoracic kyphoscoliosis	2	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	74
HP:0100711	HP:0005659	Thoracic kyphoscoliosis	2	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	53
HP:0100711	HP:0005659	Thoracic kyphoscoliosis	2	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	88
HP:0100711	HP:0005659	Thoracic kyphoscoliosis	2	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	139
HP:0100711	HP:0005659	Thoracic kyphoscoliosis	2	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	6
HP:0100711	HP:0005619	Thoracolumbar kyphosis	2	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0100711	HP:0005659	Thoracic kyphoscoliosis	2	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy	HP:0040283 - Occasional	263
HP:0100711	HP:0005659	Thoracic kyphoscoliosis	2	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	91
HP:0100711	HP:0005619	Thoracolumbar kyphosis	2	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0100711	HP:0005619	Thoracolumbar kyphosis	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0100711	HP:0005619	Thoracolumbar kyphosis	2	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0100711	HP:0005619	Thoracolumbar kyphosis	2	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040281 - Very frequent	145
HP:0100711	HP:0005619	Thoracolumbar kyphosis	2	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III	HP:0040283 - Occasional	233
HP:0100711	HP:0005619	Thoracolumbar kyphosis	2	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0100711	HP:0005619	Thoracolumbar kyphosis	2	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II		120
HP:0100711	HP:0005619	Thoracolumbar kyphosis	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0100711	HP:0005619	Thoracolumbar kyphosis	2	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.	54
HP:0100711	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:0100711	HP:0005659	Thoracic kyphoscoliosis	2	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0100711	HP:0005619	Thoracolumbar kyphosis	2	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040283 - Occasional	14
HP:0100711	HP:0005619	Thoracolumbar kyphosis	2	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0100711	HP:0005619	Thoracolumbar kyphosis	2	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome		51
HP:0100711	HP:0005659	Thoracic kyphoscoliosis	2	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	645
HP:0100711	HP:0005659	Thoracic kyphoscoliosis	2	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	124
HP:0100711	HP:0005619	Thoracolumbar kyphosis	2	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0100711	HP:0005619	Thoracolumbar kyphosis	2	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0100711	HP:0005619	Thoracolumbar kyphosis	2	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa		39
HP:0100711	HP:0005659	Thoracic kyphoscoliosis	2	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	72
HP:0100711	HP:0005619	Thoracolumbar kyphosis	2	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0100711	HP:0005659	Thoracic kyphoscoliosis	2	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia		10
HP:0100711	HP:0004633	Lower thoracic kyphosis	2	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.	53
HP:0100711	HP:0005619	Thoracolumbar kyphosis	2	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.	53
HP:0100711	HP:0005659	Thoracic kyphoscoliosis	2	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0100711	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:0100711	HP:0005619	Thoracolumbar kyphosis	2	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2		6
HP:0100711	HP:0005659	Thoracic kyphoscoliosis	2	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional	11
HP:0100711	HP:0005659	Thoracic kyphoscoliosis	2	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	73
HP:0100711	HP:0005659	Thoracic kyphoscoliosis	2	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	263
HP:0100711	HP:0005619	Thoracolumbar kyphosis	2	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II		166
HP:0100711	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:0100711	HP:0005659	Thoracic kyphoscoliosis	2	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome	.	3
HP:0100711	HP:0005659	Thoracic kyphoscoliosis	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	83
HP:0100711	HP:0003423	Thoracolumbar kyphoscoliosis	3	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040282 - Frequent
HP:0100711	HP:0003423	Thoracolumbar kyphoscoliosis	3	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040282 - Frequent	2
HP:0100711	HP:0003423	Thoracolumbar kyphoscoliosis	3	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0100711	HP:0003423	Thoracolumbar kyphoscoliosis	3	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:0100711	HP:0003423	Thoracolumbar kyphoscoliosis	3	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.	39
HP:0100711	HP:0003423	Thoracolumbar kyphoscoliosis	3	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0100711	HP:0003423	Thoracolumbar kyphoscoliosis	3	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	.	6
HP:0100711	HP:0003423	Thoracolumbar kyphoscoliosis	3	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent	166