Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the curvature of the vertebral column (HP:0010674)

Parent Node:
Kyphosis (HP:0002808)

Parent Node:
Scoliosis (HP:0002650)

..Starting node
..Kyphoscoliosis (HP:0002751)

Term ID:

2751

Name:

Kyphoscoliosis

Synonym:

Definition:

An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.

Comments:

Reference:

HP:0002751

Genes and Diseases:

Child Nodes:

........

Thoracolumbar kyphoscoliosis (HP:0003423)

........

Lumbar kyphoscoliosis (HP:0004619)

........

Congenital kyphoscoliosis (HP:0008453)

Sister Nodes:

Compensatory scoliosis (HP:0100884)

Progressive congenital scoliosis (HP:0008458)

Thoracic scoliosis (HP:0002943)

Thoracolumbar scoliosis (HP:0002944)

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:0002751	HP:0002751	Kyphoscoliosis	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.		16
HP:0002751	HP:0002751	Kyphoscoliosis	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0002751	HP:0002751	Kyphoscoliosis	0	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset	.		72
HP:0002751	HP:0002751	Kyphoscoliosis	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0002751	HP:0002751	Kyphoscoliosis	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		127
HP:0002751	HP:0002751	Kyphoscoliosis	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0002751	HP:0002751	Kyphoscoliosis	0	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3	.		4
HP:0002751	HP:0002751	Kyphoscoliosis	0	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17	.		1
HP:0002751	HP:0002751	Kyphoscoliosis	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.		54
HP:0002751	HP:0002751	Kyphoscoliosis	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040283 - Occasional		89
HP:0002751	HP:0002751	Kyphoscoliosis	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0002751	HP:0002751	Kyphoscoliosis	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0002751	HP:0002751	Kyphoscoliosis	0	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4	.
HP:0002751	HP:0002751	Kyphoscoliosis	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0002751	HP:0002751	Kyphoscoliosis	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent		140
HP:0002751	HP:0002751	Kyphoscoliosis	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0002751	HP:0002751	Kyphoscoliosis	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.		2
HP:0002751	HP:0002751	Kyphoscoliosis	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.		169
HP:0002751	HP:0002751	Kyphoscoliosis	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.		169
HP:0002751	HP:0002751	Kyphoscoliosis	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent		38
HP:0002751	HP:0002751	Kyphoscoliosis	0	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2	.		38
HP:0002751	HP:0002751	Kyphoscoliosis	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040282 - Frequent		38
HP:0002751	HP:0002751	Kyphoscoliosis	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.		38
HP:0002751	HP:0002751	Kyphoscoliosis	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional		29
HP:0002751	HP:0002751	Kyphoscoliosis	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.	HP:0003577 - Congenital onset	101
HP:0002751	HP:0002751	Kyphoscoliosis	0	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII	HP:0040283 - Occasional		49
HP:0002751	HP:0002751	Kyphoscoliosis	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1	.		276
HP:0002751	HP:0002751	Kyphoscoliosis	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency	.		242
HP:0002751	HP:0002751	Kyphoscoliosis	0	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood	.
HP:0002751	HP:0002751	Kyphoscoliosis	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0002751	HP:0002751	Kyphoscoliosis	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0002751	HP:0002751	Kyphoscoliosis	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7			35
HP:0002751	HP:0002751	Kyphoscoliosis	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		65
HP:0002751	HP:0002751	Kyphoscoliosis	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040282 - Frequent		27
HP:0002751	HP:0002751	Kyphoscoliosis	0	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia	HP:0040282 - Frequent		165
HP:0002751	HP:0002751	Kyphoscoliosis	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.		165
HP:0002751	HP:0002751	Kyphoscoliosis	0	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32			4
HP:0002751	HP:0002751	Kyphoscoliosis	0	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	HP:0040283 - Occasional		4
HP:0002751	HP:0002751	Kyphoscoliosis	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.		7
HP:0002751	HP:0002751	Kyphoscoliosis	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040283 - Occasional		52
HP:0002751	HP:0002751	Kyphoscoliosis	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional		65
HP:0002751	HP:0002751	Kyphoscoliosis	0	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2			65
HP:0002751	HP:0002751	Kyphoscoliosis	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		6
HP:0002751	HP:0002751	Kyphoscoliosis	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional		243
HP:0002751	HP:0002751	Kyphoscoliosis	0	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis	HP:0040281 - Very frequent		284
HP:0002751	HP:0002751	Kyphoscoliosis	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0002751	HP:0002751	Kyphoscoliosis	0	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type	.		284
HP:0002751	HP:0002751	Kyphoscoliosis	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040283 - Occasional		284
HP:0002751	HP:0002751	Kyphoscoliosis	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.		24
HP:0002751	HP:0002751	Kyphoscoliosis	0	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040283 - Occasional
HP:0002751	HP:0002751	Kyphoscoliosis	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	.		17
HP:0002751	HP:0002751	Kyphoscoliosis	0	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:0002751	HP:0002751	Kyphoscoliosis	0	DLL3 CL E G H	10683	2909	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0002751	HP:0002751	Kyphoscoliosis	0	DNA2 CL E G H	1763	2939	OMIM:615807	Seckel syndrome 8	.		41
HP:0002751	HP:0002751	Kyphoscoliosis	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040282 - Frequent		44
HP:0002751	HP:0002751	Kyphoscoliosis	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040282 - Frequent		13
HP:0002751	HP:0002751	Kyphoscoliosis	0	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23	HP:0040282 - Frequent		13
HP:0002751	HP:0002751	Kyphoscoliosis	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0002751	HP:0002751	Kyphoscoliosis	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0002751	HP:0002751	Kyphoscoliosis	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0002751	HP:0002751	Kyphoscoliosis	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		58
HP:0002751	HP:0002751	Kyphoscoliosis	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0002751	HP:0002751	Kyphoscoliosis	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.		20
HP:0002751	HP:0002751	Kyphoscoliosis	0	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0002751	HP:0002751	Kyphoscoliosis	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.		199
HP:0002751	HP:0002751	Kyphoscoliosis	0	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040282 - Frequent		3
HP:0002751	HP:0002751	Kyphoscoliosis	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.		3
HP:0002751	HP:0002751	Kyphoscoliosis	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040283 - Occasional		36
HP:0002751	HP:0002751	Kyphoscoliosis	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0002751	HP:0002751	Kyphoscoliosis	0	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly			655
HP:0002751	HP:0002751	Kyphoscoliosis	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0002751	HP:0002751	Kyphoscoliosis	0	FKBP10 CL E G H	60681	18169	OMIM:610968	Osteogenesis imperfecta, type XI	.		61
HP:0002751	HP:0002751	Kyphoscoliosis	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	.		13
HP:0002751	HP:0002751	Kyphoscoliosis	0	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency	HP:0040281 - Very frequent		13
HP:0002751	HP:0002751	Kyphoscoliosis	0	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040283 - Occasional		157
HP:0002751	HP:0002751	Kyphoscoliosis	0	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040283 - Occasional		184
HP:0002751	HP:0002751	Kyphoscoliosis	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.		493
HP:0002751	HP:0002751	Kyphoscoliosis	0	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	.		3
HP:0002751	HP:0002751	Kyphoscoliosis	0	GDAP1 CL E G H	54332	15968	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K	.		108
HP:0002751	HP:0002751	Kyphoscoliosis	0	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A	HP:0040282 - Frequent		108
HP:0002751	HP:0002751	Kyphoscoliosis	0	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0002751	HP:0002751	Kyphoscoliosis	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0002751	HP:0002751	Kyphoscoliosis	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.		52
HP:0002751	HP:0002751	Kyphoscoliosis	0	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia	.
HP:0002751	HP:0002751	Kyphoscoliosis	0	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome	.
HP:0002751	HP:0002751	Kyphoscoliosis	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0002751	HP:0002751	Kyphoscoliosis	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040282 - Frequent		16
HP:0002751	HP:0002751	Kyphoscoliosis	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.		86
HP:0002751	HP:0002751	Kyphoscoliosis	0	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13	HP:0040283 - Occasional		2
HP:0002751	HP:0002751	Kyphoscoliosis	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		113
HP:0002751	HP:0002751	Kyphoscoliosis	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0002751	HP:0002751	Kyphoscoliosis	0	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0002751	HP:0002751	Kyphoscoliosis	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.		52
HP:0002751	HP:0002751	Kyphoscoliosis	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0002751	HP:0002751	Kyphoscoliosis	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0002751	HP:0002751	Kyphoscoliosis	0	JPH1 CL E G H	56704	14201	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K	.		1
HP:0002751	HP:0002751	Kyphoscoliosis	0	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1	HP:0040283 - Occasional		145
HP:0002751	HP:0002751	Kyphoscoliosis	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040283 - Occasional		14
HP:0002751	HP:0002751	Kyphoscoliosis	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		196
HP:0002751	HP:0002751	Kyphoscoliosis	0	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	HP:0040282 - Frequent		3
HP:0002751	HP:0002751	Kyphoscoliosis	0	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient			411
HP:0002751	HP:0002751	Kyphoscoliosis	0	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome			51
HP:0002751	HP:0002751	Kyphoscoliosis	0	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1	.		645
HP:0002751	HP:0002751	Kyphoscoliosis	0	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome	.		125
HP:0002751	HP:0002751	Kyphoscoliosis	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1	.		134
HP:0002751	HP:0002751	Kyphoscoliosis	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0002751	HP:0002751	Kyphoscoliosis	0	MAPT CL E G H	4137	6893	OMIM:260540	Supranuclear palsy, progressive atypical	.		140
HP:0002751	HP:0002751	Kyphoscoliosis	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0002751	HP:0002751	Kyphoscoliosis	0	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome	HP:0040283 - Occasional		950
HP:0002751	HP:0002751	Kyphoscoliosis	0	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:0002751	HP:0002751	Kyphoscoliosis	0	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome	HP:0040283 - Occasional		13
HP:0002751	HP:0002751	Kyphoscoliosis	0	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0002751	HP:0002751	Kyphoscoliosis	0	MESP2 CL E G H	145873	29659	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0002751	HP:0002751	Kyphoscoliosis	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0002751	HP:0002751	Kyphoscoliosis	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0002751	HP:0002751	Kyphoscoliosis	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0002751	HP:0002751	Kyphoscoliosis	0	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B	HP:0040282 - Frequent		134
HP:0002751	HP:0002751	Kyphoscoliosis	0	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		134
HP:0002751	HP:0002751	Kyphoscoliosis	0	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent		134
HP:0002751	HP:0002751	Kyphoscoliosis	0	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.		134
HP:0002751	HP:0002751	Kyphoscoliosis	0	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32	.		1
HP:0002751	HP:0002751	Kyphoscoliosis	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040283 - Occasional		81
HP:0002751	HP:0002751	Kyphoscoliosis	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0002751	HP:0002751	Kyphoscoliosis	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.		166
HP:0002751	HP:0002751	Kyphoscoliosis	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0002751	HP:0002751	Kyphoscoliosis	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional
HP:0002751	HP:0002751	Kyphoscoliosis	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.	HP:0003577 - Congenital onset	23
HP:0002751	HP:0002751	Kyphoscoliosis	0	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D	HP:0040283 - Occasional		82
HP:0002751	HP:0002751	Kyphoscoliosis	0	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8	.		22
HP:0002751	HP:0002751	Kyphoscoliosis	0	NEMF CL E G H	9147	10663	OMIM:619099	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN			1
HP:0002751	HP:0002751	Kyphoscoliosis	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0002751	HP:0002751	Kyphoscoliosis	0	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:0002751	HP:0002751	Kyphoscoliosis	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional		40
HP:0002751	HP:0002751	Kyphoscoliosis	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0002751	HP:0002751	Kyphoscoliosis	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0002751	HP:0002751	Kyphoscoliosis	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040282 - Frequent		10
HP:0002751	HP:0002751	Kyphoscoliosis	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0002751	HP:0002751	Kyphoscoliosis	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.		138
HP:0002751	HP:0002751	Kyphoscoliosis	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		102
HP:0002751	HP:0002751	Kyphoscoliosis	0	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040281 - Very frequent		34
HP:0002751	HP:0002751	Kyphoscoliosis	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0002751	HP:0002751	Kyphoscoliosis	0	PAPSS2 CL E G H	9060	8604	OMIM:612847	Brachyolmia 4 with mild epiphyseal and metaphyseal changes	.		20
HP:0002751	HP:0002751	Kyphoscoliosis	0	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1	.		72
HP:0002751	HP:0002751	Kyphoscoliosis	0	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.		77
HP:0002751	HP:0002751	Kyphoscoliosis	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0002751	HP:0002751	Kyphoscoliosis	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent		150
HP:0002751	HP:0002751	Kyphoscoliosis	0	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A	HP:0040283 - Occasional		79
HP:0002751	HP:0002751	Kyphoscoliosis	0	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A	.		79
HP:0002751	HP:0002751	Kyphoscoliosis	0	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		79
HP:0002751	HP:0002751	Kyphoscoliosis	0	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent		79
HP:0002751	HP:0002751	Kyphoscoliosis	0	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.		79
HP:0002751	HP:0002751	Kyphoscoliosis	0	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4	HP:0040283 - Occasional		244
HP:0002751	HP:0002751	Kyphoscoliosis	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0002751	HP:0002751	Kyphoscoliosis	0	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040283 - Occasional		213
HP:0002751	HP:0002751	Kyphoscoliosis	0	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2			6
HP:0002751	HP:0002751	Kyphoscoliosis	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0002751	HP:0002751	Kyphoscoliosis	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0002751	HP:0002751	Kyphoscoliosis	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		2
HP:0002751	HP:0002751	Kyphoscoliosis	0	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		170
HP:0002751	HP:0002751	Kyphoscoliosis	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome	.		665
HP:0002751	HP:0002751	Kyphoscoliosis	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome	.		40
HP:0002751	HP:0002751	Kyphoscoliosis	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.		291
HP:0002751	HP:0002751	Kyphoscoliosis	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1	.		291
HP:0002751	HP:0002751	Kyphoscoliosis	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.		85
HP:0002751	HP:0002751	Kyphoscoliosis	0	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome	HP:0040283 - Occasional		31
HP:0002751	HP:0002751	Kyphoscoliosis	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1	.		90
HP:0002751	HP:0002751	Kyphoscoliosis	0	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome	.		1
HP:0002751	HP:0002751	Kyphoscoliosis	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040282 - Frequent		1
HP:0002751	HP:0002751	Kyphoscoliosis	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0002751	HP:0002751	Kyphoscoliosis	0	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19			65
HP:0002751	HP:0002751	Kyphoscoliosis	0	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:0002751	HP:0002751	Kyphoscoliosis	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0002751	HP:0002751	Kyphoscoliosis	0	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040282 - Frequent		1200
HP:0002751	HP:0002751	Kyphoscoliosis	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0002751	HP:0002751	Kyphoscoliosis	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0002751	HP:0002751	Kyphoscoliosis	0	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2	.		180
HP:0002751	HP:0002751	Kyphoscoliosis	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0002751	HP:0002751	Kyphoscoliosis	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional		143
HP:0002751	HP:0002751	Kyphoscoliosis	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0002751	HP:0002751	Kyphoscoliosis	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	.
HP:0002751	HP:0002751	Kyphoscoliosis	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040282 - Frequent		57
HP:0002751	HP:0002751	Kyphoscoliosis	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0002751	HP:0002751	Kyphoscoliosis	0	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41	.		3
HP:0002751	HP:0002751	Kyphoscoliosis	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		28
HP:0002751	HP:0002751	Kyphoscoliosis	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0002751	HP:0002751	Kyphoscoliosis	0	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia	.		166
HP:0002751	HP:0002751	Kyphoscoliosis	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0002751	HP:0002751	Kyphoscoliosis	0	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	HP:0040283 - Occasional		47
HP:0002751	HP:0002751	Kyphoscoliosis	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		9
HP:0002751	HP:0002751	Kyphoscoliosis	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.		19
HP:0002751	HP:0002751	Kyphoscoliosis	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040281 - Very frequent		19
HP:0002751	HP:0002751	Kyphoscoliosis	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0002751	HP:0002751	Kyphoscoliosis	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040282 - Frequent		14
HP:0002751	HP:0002751	Kyphoscoliosis	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0002751	HP:0002751	Kyphoscoliosis	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0002751	HP:0002751	Kyphoscoliosis	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.		109
HP:0002751	HP:0002751	Kyphoscoliosis	0	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.		66
HP:0002751	HP:0002751	Kyphoscoliosis	0	SPG11 CL E G H	80208	11226	OMIM:616668	Charcot-Marie-Tooth disease, axonal, type 2X	HP:0040283 - Occasional		287
HP:0002751	HP:0002751	Kyphoscoliosis	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0002751	HP:0002751	Kyphoscoliosis	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional		138
HP:0002751	HP:0002751	Kyphoscoliosis	0	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	.		14
HP:0002751	HP:0002751	Kyphoscoliosis	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome	.		124
HP:0002751	HP:0002751	Kyphoscoliosis	0	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K			73
HP:0002751	HP:0002751	Kyphoscoliosis	0	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0002751	HP:0002751	Kyphoscoliosis	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		4
HP:0002751	HP:0002751	Kyphoscoliosis	0	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18	.		31
HP:0002751	HP:0002751	Kyphoscoliosis	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional		12
HP:0002751	HP:0002751	Kyphoscoliosis	0	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome	.		12
HP:0002751	HP:0002751	Kyphoscoliosis	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0002751	HP:0002751	Kyphoscoliosis	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0002751	HP:0002751	Kyphoscoliosis	0	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK	.		24
HP:0002751	HP:0002751	Kyphoscoliosis	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0002751	HP:0002751	Kyphoscoliosis	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0002751	HP:0002751	Kyphoscoliosis	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0002751	HP:0002751	Kyphoscoliosis	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0002751	HP:0002751	Kyphoscoliosis	0	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4	.		54
HP:0002751	HP:0002751	Kyphoscoliosis	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0002751	HP:0002751	Kyphoscoliosis	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040283 - Occasional		46
HP:0002751	HP:0002751	Kyphoscoliosis	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		7
HP:0002751	HP:0002751	Kyphoscoliosis	0	TRPV4 CL E G H	59341	18083	ORPHA:93304	Autosomal dominant brachyolmia	HP:0040281 - Very frequent		214
HP:0002751	HP:0002751	Kyphoscoliosis	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0002751	HP:0002751	Kyphoscoliosis	0	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type	.		214
HP:0002751	HP:0002751	Kyphoscoliosis	0	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39	.		11
HP:0002751	HP:0002751	Kyphoscoliosis	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:0002751	HP:0002751	Kyphoscoliosis	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional		64
HP:0002751	HP:0002751	Kyphoscoliosis	0	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type	HP:0040283 - Occasional		66
HP:0002751	HP:0002751	Kyphoscoliosis	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040283 - Occasional		35
HP:0002751	HP:0002751	Kyphoscoliosis	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0002751	HP:0002751	Kyphoscoliosis	0	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures	.		1
HP:0002751	HP:0002751	Kyphoscoliosis	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.		83
HP:0002751	HP:0004619	Lumbar kyphoscoliosis	1	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0002751	HP:0008453	Congenital kyphoscoliosis	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional		38
HP:0002751	HP:0003423	Thoracolumbar kyphoscoliosis	1	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040282 - Frequent
HP:0002751	HP:0003423	Thoracolumbar kyphoscoliosis	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040282 - Frequent		2
HP:0002751	HP:0004619	Lumbar kyphoscoliosis	1	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.		284
HP:0002751	HP:0008453	Congenital kyphoscoliosis	1	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly	HP:0040281 - Very frequent		655
HP:0002751	HP:0008453	Congenital kyphoscoliosis	1	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.		655
HP:0002751	HP:0003423	Thoracolumbar kyphoscoliosis	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.		240
HP:0002751	HP:0003423	Thoracolumbar kyphoscoliosis	1	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:0002751	HP:0003423	Thoracolumbar kyphoscoliosis	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.		39
HP:0002751	HP:0003423	Thoracolumbar kyphoscoliosis	1	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0002751	HP:0003423	Thoracolumbar kyphoscoliosis	1	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	.		6
HP:0002751	HP:0003423	Thoracolumbar kyphoscoliosis	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent		166

Genes (190) :ACP5 ACTA1 ACTB AEBP1 AGRN AIFM1 AIMP1 AIMP2 AKT1 ALDH18A1 ARID2 ARSB ATAD1 ATG7 ATP6V0A2 ATP6V1A ATP6V1E1 ATRX B3GALT6 B4GALT7 BCOR BMP1 BRAF CBS CCN6 CDH11 CFL2 CHAT CHST14 CHST3 CLIC2 CLP1 COG1 COL12A1 COL13A1 COL1A2 COL2A1 CRLF1 CRPPA CTDP1 DLK1 DLL3 DNA2 DNMT3A DSE DSTYK DVL1 EBP EGR2 ELN ERCC1 ERCC2 ERCC6 EXOC6B EXTL3 FARS2 FBN1 FBN2 FKBP10 FKBP14 FKRP FKTN FLNA FUT8 GDAP1 GLS GNPTAB GORAB GZF1 H1-4 HACD1 HERC1 HGSNAT HMGB3 HRAS HSPG2 HTRA1 IKBKG ITGA7 JAG1 JPH1 KCNA1 KIF22 KRAS KY LAMA2 LHX3 LMNA LRP5 MAP2K1 MAP3K20 MAPT MECP2 MEG3 MEGF8 MESD MESP2 MGAT2 MLXIPL MMP2 MPZ MRPS34 MTTP MVK MYH3 MYL2 MYO9A NAA10 NDRG1 NDUFS3 NEMF NEPRO NF1 NFIX NKX3-2 NONO NOTCH2 NRAS NSDHL NUP107 PAPSS2 PEX7 PIEZO2 PLOD1 PMM2 PMP22 PNKP POLR3A POMT1 POP1 PPP1R12A PPP1R15B PRX PTCH1 PTCH2 PTPN11 RAB18 RAB23 RAB3GAP1 RBM28 RECQL4 RPS6KA3 RSPRY1 RTL1 RYR1 SBF2 SELENON SETBP1 SH3PXD2B SLC10A7 SLC16A2 SLC18A3 SLC1A2 SLC25A1 SLC26A2 SLC39A13 SLC52A2 SLC5A7 SMS SNAP25 SNX14 SON SOX9 SPART SPG11 SRCAP STAC3 SUFU SURF1 SYNE1 SYT2 TCTN3 TELO2 TGFB3 TMEM147 TMEM165 TONSL TOR1A TPM2 TPM3 TRAPPC2 TRMT10A TRPV4 TTI2 TUBB3 TUBB4A UBA1 VAMP1 WDR45B ZMPSTE24

Diseases (190) :OMIM:607944 ORPHA:2020 OMIM:607371 ORPHA:536532 ORPHA:98914 OMIM:300232 OMIM:260600 OMIM:618006 OMIM:176920 ORPHA:447760 OMIM:617808 OMIM:253200 OMIM:618011 OMIM:619422 ORPHA:2834 OMIM:617403 OMIM:617402 OMIM:301040 OMIM:309580 ORPHA:536467 OMIM:615349 ORPHA:93359 OMIM:271640 ORPHA:75496 OMIM:309800 OMIM:614856 OMIM:163950 OMIM:236200 OMIM:208230 ORPHA:1159 ORPHA:1299 OMIM:610687 ORPHA:2953 ORPHA:263463 OMIM:143095 OMIM:300886 ORPHA:324410 OMIM:615803 ORPHA:263508 ORPHA:536516 OMIM:616470 ORPHA:230851 ORPHA:85198 OMIM:156550 OMIM:616583 ORPHA:93316 OMIM:272430 ORPHA:370980 OMIM:604168 ORPHA:96334 OMIM:277300 OMIM:615807 ORPHA:404443 ORPHA:101003 OMIM:616331 OMIM:302960 ORPHA:35173 OMIM:145900 OMIM:194050 OMIM:610758 OMIM:610756 OMIM:214150 OMIM:617425 ORPHA:466722 OMIM:154700 ORPHA:115 OMIM:121050 OMIM:610968 OMIM:614557 ORPHA:300179 OMIM:309350 OMIM:618005 OMIM:607831 OMIM:214400 OMIM:618339 OMIM:252500 OMIM:231070 OMIM:617662 OMIM:617537 ORPHA:457359 OMIM:252930 OMIM:300915 OMIM:163200 OMIM:255800 ORPHA:199354 OMIM:308300 OMIM:619574 ORPHA:37612 ORPHA:93360 ORPHA:496689 OMIM:607855 ORPHA:231720 OMIM:605588 OMIM:259770 OMIM:260540 OMIM:300055 ORPHA:3077 ORPHA:65759 OMIM:618644 OMIM:212066 OMIM:259600 OMIM:118200 ORPHA:3115 OMIM:180800 OMIM:617664 ORPHA:14 OMIM:610377 OMIM:193700 ORPHA:99950 OMIM:618230 OMIM:619099 OMIM:618853 ORPHA:363700 ORPHA:447980 OMIM:602535 OMIM:613330 ORPHA:466791 OMIM:300967 OMIM:102500 ORPHA:251383 OMIM:618348 OMIM:612847 OMIM:215100 OMIM:114300 OMIM:225400 ORPHA:79318 ORPHA:101081 OMIM:118220 ORPHA:459033 ORPHA:3455 OMIM:617396 OMIM:618820 OMIM:616817 ORPHA:391408 OMIM:109400 OMIM:151100 OMIM:614222 OMIM:600118 OMIM:612079 ORPHA:157954 OMIM:268400 OMIM:300844 ORPHA:457395 ORPHA:597 OMIM:619542 ORPHA:99956 OMIM:604563 ORPHA:798 OMIM:249420 OMIM:618363 ORPHA:59 OMIM:617105 ORPHA:56304 OMIM:222600 OMIM:612350 OMIM:614707 OMIM:309583 ORPHA:3063 ORPHA:397709 OMIM:616354 ORPHA:500150 OMIM:114290 OMIM:275900 OMIM:616668 OMIM:136140 ORPHA:2044 OMIM:255995 OMIM:616684 OMIM:618484 OMIM:614815 ORPHA:488642 OMIM:616954 OMIM:615582 OMIM:620075 OMIM:614727 ORPHA:93357 OMIM:271510 OMIM:618947 OMIM:609285 ORPHA:93284 ORPHA:93304 OMIM:156530 OMIM:184252 OMIM:615541 ORPHA:391307 ORPHA:300570 ORPHA:98805 ORPHA:1145 OMIM:617977 OMIM:275210

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

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