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 vertebral column (HP:0000925)

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

..Starting node
..Kyphosis (HP:0002808)

Term ID:

2808

Name:

Kyphosis

Synonym:

Gibbus deformity; Hunched back; Hyperkyphosis; Round back

Definition:

Exaggerated anterior convexity of the thoracic vertebral column.

Comments:

Reference:

HP:0002808

Genes and Diseases:

Child Nodes:

........

Kyphoscoliosis (HP:0002751)

................... HP:0003423 Thoracolumbar kyphoscoliosis
................... HP:0004619 Lumbar kyphoscoliosis
................... HP:0008453 Congenital kyphoscoliosis

........

Thoracic kyphosis (HP:0002942)

................... HP:0004633 Lower thoracic kyphosis
................... HP:0005619 Thoracolumbar kyphosis

........

Cervical kyphosis (HP:0002947)

Sister Nodes:

Abnormal cervical curvature (HP:0005905)

Abnormally straight spine (HP:0100795)

Camptocormia (HP:0100595)

Hyperlordosis (HP:0003307)

Scoliosis (HP:0002650)

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:0002808	HP:0002808	Kyphosis	0	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste	.		415
HP:0002808	HP:0002808	Kyphosis	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040284 - Very rare		16
HP:0002808	HP:0002808	Kyphosis	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0002808	HP:0002808	Kyphosis	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0002808	HP:0002808	Kyphosis	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040284 - Very rare		96
HP:0002808	HP:0002808	Kyphosis	0	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome	HP:0040283 - Occasional		72
HP:0002808	HP:0002808	Kyphosis	0	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome	HP:0040281 - Very frequent		72
HP:0002808	HP:0002808	Kyphosis	0	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset			72
HP:0002808	HP:0002808	Kyphosis	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0002808	HP:0002808	Kyphosis	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.		76
HP:0002808	HP:0002808	Kyphosis	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0002808	HP:0002808	Kyphosis	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0002808	HP:0002808	Kyphosis	0	AIFM1 CL E G H	9131	8768	ORPHA:101078	X-linked Charcot-Marie-Tooth disease type 4	HP:0040282 - Frequent		60
HP:0002808	HP:0002808	Kyphosis	0	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3			4
HP:0002808	HP:0002808	Kyphosis	0	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17			1
HP:0002808	HP:0002808	Kyphosis	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040282 - Frequent		95
HP:0002808	HP:0002808	Kyphosis	0	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.		95
HP:0002808	HP:0002808	Kyphosis	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		54
HP:0002808	HP:0002808	Kyphosis	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.		54
HP:0002808	HP:0002808	Kyphosis	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent		54
HP:0002808	HP:0002808	Kyphosis	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic			54
HP:0002808	HP:0002808	Kyphosis	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B			89
HP:0002808	HP:0002808	Kyphosis	0	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome	HP:0040281 - Very frequent		87
HP:0002808	HP:0002808	Kyphosis	0	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome			87
HP:0002808	HP:0002808	Kyphosis	0	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG	HP:0040283 - Occasional		58
HP:0002808	HP:0002808	Kyphosis	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il	.		93
HP:0002808	HP:0002808	Kyphosis	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent		404
HP:0002808	HP:0002808	Kyphosis	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0002808	HP:0002808	Kyphosis	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0002808	HP:0002808	Kyphosis	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional		102
HP:0002808	HP:0002808	Kyphosis	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome			102
HP:0002808	HP:0002808	Kyphosis	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0002808	HP:0002808	Kyphosis	0	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0002808	HP:0002808	Kyphosis	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		1
HP:0002808	HP:0002808	Kyphosis	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0002808	HP:0002808	Kyphosis	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0002808	HP:0002808	Kyphosis	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0002808	HP:0002808	Kyphosis	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0002808	HP:0002808	Kyphosis	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.		7
HP:0002808	HP:0002808	Kyphosis	0	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4
HP:0002808	HP:0002808	Kyphosis	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0002808	HP:0002808	Kyphosis	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.		140
HP:0002808	HP:0002808	Kyphosis	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0002808	HP:0002808	Kyphosis	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0002808	HP:0002808	Kyphosis	0	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2	HP:0040283 - Occasional		5
HP:0002808	HP:0002808	Kyphosis	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC			2
HP:0002808	HP:0002808	Kyphosis	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional		192
HP:0002808	HP:0002808	Kyphosis	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.		192
HP:0002808	HP:0002808	Kyphosis	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0002808	HP:0002808	Kyphosis	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0002808	HP:0002808	Kyphosis	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional		61
HP:0002808	HP:0002808	Kyphosis	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.		61
HP:0002808	HP:0002808	Kyphosis	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0002808	HP:0002808	Kyphosis	0	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2			38
HP:0002808	HP:0002808	Kyphosis	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			38
HP:0002808	HP:0002808	Kyphosis	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0002808	HP:0002808	Kyphosis	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome			29
HP:0002808	HP:0002808	Kyphosis	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002808	HP:0002808	Kyphosis	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002808	HP:0002808	Kyphosis	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040283 - Occasional		101
HP:0002808	HP:0002808	Kyphosis	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0002808	HP:0002808	Kyphosis	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.		7
HP:0002808	HP:0002808	Kyphosis	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0002808	HP:0002808	Kyphosis	0	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	.		46
HP:0002808	HP:0002808	Kyphosis	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	.		99
HP:0002808	HP:0002808	Kyphosis	0	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII			49
HP:0002808	HP:0002808	Kyphosis	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0002808	HP:0002808	Kyphosis	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002808	HP:0002808	Kyphosis	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.		85
HP:0002808	HP:0002808	Kyphosis	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0002808	HP:0002808	Kyphosis	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0002808	HP:0002808	Kyphosis	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040282 - Frequent		242
HP:0002808	HP:0002808	Kyphosis	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0002808	HP:0002808	Kyphosis	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent		33
HP:0002808	HP:0002808	Kyphosis	0	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0002808	HP:0002808	Kyphosis	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040283 - Occasional		5
HP:0002808	HP:0002808	Kyphosis	0	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood
HP:0002808	HP:0002808	Kyphosis	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0002808	HP:0002808	Kyphosis	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0002808	HP:0002808	Kyphosis	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		405
HP:0002808	HP:0002808	Kyphosis	0	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder	HP:0040283 - Occasional		405
HP:0002808	HP:0002808	Kyphosis	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7			35
HP:0002808	HP:0002808	Kyphosis	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040284 - Very rare		35
HP:0002808	HP:0002808	Kyphosis	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0002808	HP:0002808	Kyphosis	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.		68
HP:0002808	HP:0002808	Kyphosis	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0002808	HP:0002808	Kyphosis	0	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia			165
HP:0002808	HP:0002808	Kyphosis	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.		165
HP:0002808	HP:0002808	Kyphosis	0	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent		6
HP:0002808	HP:0002808	Kyphosis	0	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32			4
HP:0002808	HP:0002808	Kyphosis	0	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome			4
HP:0002808	HP:0002808	Kyphosis	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002808	HP:0002808	Kyphosis	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10			7
HP:0002808	HP:0002808	Kyphosis	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0002808	HP:0002808	Kyphosis	0	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2			65
HP:0002808	HP:0002808	Kyphosis	0	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent		65
HP:0002808	HP:0002808	Kyphosis	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional		65
HP:0002808	HP:0002808	Kyphosis	0	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2			65
HP:0002808	HP:0002808	Kyphosis	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0002808	HP:0002808	Kyphosis	0	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1	.		373
HP:0002808	HP:0002808	Kyphosis	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.		373
HP:0002808	HP:0002808	Kyphosis	0	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV	.		373
HP:0002808	HP:0002808	Kyphosis	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0002808	HP:0002808	Kyphosis	0	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2	.		243
HP:0002808	HP:0002808	Kyphosis	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.		243
HP:0002808	HP:0002808	Kyphosis	0	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV	.		243
HP:0002808	HP:0002808	Kyphosis	0	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type			284
HP:0002808	HP:0002808	Kyphosis	0	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis			284
HP:0002808	HP:0002808	Kyphosis	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0002808	HP:0002808	Kyphosis	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0002808	HP:0002808	Kyphosis	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita	.		284
HP:0002808	HP:0002808	Kyphosis	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040282 - Frequent		284
HP:0002808	HP:0002808	Kyphosis	0	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type			284
HP:0002808	HP:0002808	Kyphosis	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type			284
HP:0002808	HP:0002808	Kyphosis	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.		284
HP:0002808	HP:0002808	Kyphosis	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I	.		284
HP:0002808	HP:0002808	Kyphosis	0	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent		442
HP:0002808	HP:0002808	Kyphosis	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		442
HP:0002808	HP:0002808	Kyphosis	0	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent		478
HP:0002808	HP:0002808	Kyphosis	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		478
HP:0002808	HP:0002808	Kyphosis	0	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent		702
HP:0002808	HP:0002808	Kyphosis	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		702
HP:0002808	HP:0002808	Kyphosis	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia			89
HP:0002808	HP:0002808	Kyphosis	0	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0002808	HP:0002808	Kyphosis	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0002808	HP:0002808	Kyphosis	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		1
HP:0002808	HP:0002808	Kyphosis	0	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent		24
HP:0002808	HP:0002808	Kyphosis	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1			24
HP:0002808	HP:0002808	Kyphosis	0	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability
HP:0002808	HP:0002808	Kyphosis	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	.		149
HP:0002808	HP:0002808	Kyphosis	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		2
HP:0002808	HP:0002808	Kyphosis	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0002808	HP:0002808	Kyphosis	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy			17
HP:0002808	HP:0002808	Kyphosis	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040283 - Occasional		17
HP:0002808	HP:0002808	Kyphosis	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis	HP:0040283 - Occasional		39
HP:0002808	HP:0002808	Kyphosis	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type	.		38
HP:0002808	HP:0002808	Kyphosis	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040283 - Occasional		38
HP:0002808	HP:0002808	Kyphosis	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040283 - Occasional		127
HP:0002808	HP:0002808	Kyphosis	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0002808	HP:0002808	Kyphosis	0	DCC CL E G H	1630	2701	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis	HP:0040281 - Very frequent		36
HP:0002808	HP:0002808	Kyphosis	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional		159
HP:0002808	HP:0002808	Kyphosis	0	DKK1 CL E G H	22943	2891	ORPHA:85193	Idiopathic juvenile osteoporosis	HP:0040283 - Occasional
HP:0002808	HP:0002808	Kyphosis	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002808	HP:0002808	Kyphosis	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040282 - Frequent		45
HP:0002808	HP:0002808	Kyphosis	0	DLL3 CL E G H	10683	2909	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0002808	HP:0002808	Kyphosis	0	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers			1496
HP:0002808	HP:0002808	Kyphosis	0	DNA2 CL E G H	1763	2939	OMIM:615807	Seckel syndrome 8			41
HP:0002808	HP:0002808	Kyphosis	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002808	HP:0002808	Kyphosis	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome			44
HP:0002808	HP:0002808	Kyphosis	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0002808	HP:0002808	Kyphosis	0	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23			13
HP:0002808	HP:0002808	Kyphosis	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0002808	HP:0002808	Kyphosis	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0002808	HP:0002808	Kyphosis	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0002808	HP:0002808	Kyphosis	0	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1	.		65
HP:0002808	HP:0002808	Kyphosis	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:0002808	HP:0002808	Kyphosis	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040283 - Occasional		134
HP:0002808	HP:0002808	Kyphosis	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0002808	HP:0002808	Kyphosis	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent		51
HP:0002808	HP:0002808	Kyphosis	0	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome	.		51
HP:0002808	HP:0002808	Kyphosis	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata	HP:0040281 - Very frequent		51
HP:0002808	HP:0002808	Kyphosis	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			58
HP:0002808	HP:0002808	Kyphosis	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002808	HP:0002808	Kyphosis	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		172
HP:0002808	HP:0002808	Kyphosis	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0002808	HP:0002808	Kyphosis	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		107
HP:0002808	HP:0002808	Kyphosis	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0002808	HP:0002808	Kyphosis	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		20
HP:0002808	HP:0002808	Kyphosis	0	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0002808	HP:0002808	Kyphosis	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0002808	HP:0002808	Kyphosis	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0002808	HP:0002808	Kyphosis	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0002808	HP:0002808	Kyphosis	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		199
HP:0002808	HP:0002808	Kyphosis	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		199
HP:0002808	HP:0002808	Kyphosis	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0002808	HP:0002808	Kyphosis	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0002808	HP:0002808	Kyphosis	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		55
HP:0002808	HP:0002808	Kyphosis	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		55
HP:0002808	HP:0002808	Kyphosis	0	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive	.		18
HP:0002808	HP:0002808	Kyphosis	0	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			3
HP:0002808	HP:0002808	Kyphosis	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities			3
HP:0002808	HP:0002808	Kyphosis	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent		3
HP:0002808	HP:0002808	Kyphosis	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.		81
HP:0002808	HP:0002808	Kyphosis	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040283 - Occasional		76
HP:0002808	HP:0002808	Kyphosis	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77			36
HP:0002808	HP:0002808	Kyphosis	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0002808	HP:0002808	Kyphosis	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0002808	HP:0002808	Kyphosis	0	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly			655
HP:0002808	HP:0002808	Kyphosis	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0002808	HP:0002808	Kyphosis	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002808	HP:0002808	Kyphosis	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040281 - Very frequent		145
HP:0002808	HP:0002808	Kyphosis	0	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans	.		145
HP:0002808	HP:0002808	Kyphosis	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040282 - Frequent		145
HP:0002808	HP:0002808	Kyphosis	0	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2	HP:0040282 - Frequent		145
HP:0002808	HP:0002808	Kyphosis	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0002808	HP:0002808	Kyphosis	0	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset	.		68
HP:0002808	HP:0002808	Kyphosis	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.		68
HP:0002808	HP:0002808	Kyphosis	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		68
HP:0002808	HP:0002808	Kyphosis	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0002808	HP:0002808	Kyphosis	0	FKBP10 CL E G H	60681	18169	ORPHA:2771	Bruck syndrome	HP:0040282 - Frequent		61
HP:0002808	HP:0002808	Kyphosis	0	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1	.		61
HP:0002808	HP:0002808	Kyphosis	0	FKBP10 CL E G H	60681	18169	OMIM:610968	Osteogenesis imperfecta, type XI			61
HP:0002808	HP:0002808	Kyphosis	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0002808	HP:0002808	Kyphosis	0	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency			13
HP:0002808	HP:0002808	Kyphosis	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002808	HP:0002808	Kyphosis	0	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			157
HP:0002808	HP:0002808	Kyphosis	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.		157
HP:0002808	HP:0002808	Kyphosis	0	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.		157
HP:0002808	HP:0002808	Kyphosis	0	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			184
HP:0002808	HP:0002808	Kyphosis	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0002808	HP:0002808	Kyphosis	0	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III			233
HP:0002808	HP:0002808	Kyphosis	0	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III			233
HP:0002808	HP:0002808	Kyphosis	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome			233
HP:0002808	HP:0002808	Kyphosis	0	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome	HP:0040283 - Occasional		111
HP:0002808	HP:0002808	Kyphosis	0	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0002808	HP:0002808	Kyphosis	0	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040282 - Frequent		177
HP:0002808	HP:0002808	Kyphosis	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant	.		177
HP:0002808	HP:0002808	Kyphosis	0	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis	HP:0040281 - Very frequent		43
HP:0002808	HP:0002808	Kyphosis	0	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1			3
HP:0002808	HP:0002808	Kyphosis	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		5
HP:0002808	HP:0002808	Kyphosis	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0002808	HP:0002808	Kyphosis	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.		123
HP:0002808	HP:0002808	Kyphosis	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040282 - Frequent
HP:0002808	HP:0002808	Kyphosis	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0002808	HP:0002808	Kyphosis	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	HP:0040283 - Occasional		30
HP:0002808	HP:0002808	Kyphosis	0	GDAP1 CL E G H	54332	15968	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K			108
HP:0002808	HP:0002808	Kyphosis	0	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A			108
HP:0002808	HP:0002808	Kyphosis	0	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1	HP:0040283 - Occasional		107
HP:0002808	HP:0002808	Kyphosis	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I	.		120
HP:0002808	HP:0002808	Kyphosis	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II			120
HP:0002808	HP:0002808	Kyphosis	0	GLB1 CL E G H	2720	4298	OMIM:230650	Gm1-gangliosidosis, type III	.		120
HP:0002808	HP:0002808	Kyphosis	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.		120
HP:0002808	HP:0002808	Kyphosis	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.		45
HP:0002808	HP:0002808	Kyphosis	0	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0002808	HP:0002808	Kyphosis	0	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.		101
HP:0002808	HP:0002808	Kyphosis	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0002808	HP:0002808	Kyphosis	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional		240
HP:0002808	HP:0002808	Kyphosis	0	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma	.		57
HP:0002808	HP:0002808	Kyphosis	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum			52
HP:0002808	HP:0002808	Kyphosis	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040282 - Frequent		5
HP:0002808	HP:0002808	Kyphosis	0	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome			5
HP:0002808	HP:0002808	Kyphosis	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional		30
HP:0002808	HP:0002808	Kyphosis	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0002808	HP:0002808	Kyphosis	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0002808	HP:0002808	Kyphosis	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0002808	HP:0002808	Kyphosis	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0002808	HP:0002808	Kyphosis	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0002808	HP:0002808	Kyphosis	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome	.
HP:0002808	HP:0002808	Kyphosis	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0002808	HP:0002808	Kyphosis	0	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia
HP:0002808	HP:0002808	Kyphosis	0	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0002808	HP:0002808	Kyphosis	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0002808	HP:0002808	Kyphosis	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0002808	HP:0002808	Kyphosis	0	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures	HP:0040283 - Occasional		10
HP:0002808	HP:0002808	Kyphosis	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040282 - Frequent		10
HP:0002808	HP:0002808	Kyphosis	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0002808	HP:0002808	Kyphosis	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.		16
HP:0002808	HP:0002808	Kyphosis	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040283 - Occasional		16
HP:0002808	HP:0002808	Kyphosis	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0002808	HP:0002808	Kyphosis	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040282 - Frequent		10
HP:0002808	HP:0002808	Kyphosis	0	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria			77
HP:0002808	HP:0002808	Kyphosis	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0002808	HP:0002808	Kyphosis	0	HLA-B CL E G H	3106	4932	OMIM:106300	Spondyloarthropathy, susceptibility to, 1	.		4
HP:0002808	HP:0002808	Kyphosis	0	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13			2
HP:0002808	HP:0002808	Kyphosis	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			113
HP:0002808	HP:0002808	Kyphosis	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0002808	HP:0002808	Kyphosis	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0002808	HP:0002808	Kyphosis	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent		345
HP:0002808	HP:0002808	Kyphosis	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0002808	HP:0002808	Kyphosis	0	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0002808	HP:0002808	Kyphosis	0	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome	.		12
HP:0002808	HP:0002808	Kyphosis	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.		86
HP:0002808	HP:0002808	Kyphosis	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	HP:0011463 - Childhood onset	115
HP:0002808	HP:0002808	Kyphosis	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome	.		115
HP:0002808	HP:0002808	Kyphosis	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti			52
HP:0002808	HP:0002808	Kyphosis	0	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability			7
HP:0002808	HP:0002808	Kyphosis	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0002808	HP:0002808	Kyphosis	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0002808	HP:0002808	Kyphosis	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0002808	HP:0002808	Kyphosis	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0002808	HP:0002808	Kyphosis	0	JPH1 CL E G H	56704	14201	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K			1
HP:0002808	HP:0002808	Kyphosis	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional		283
HP:0002808	HP:0002808	Kyphosis	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0002808	HP:0002808	Kyphosis	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional		283
HP:0002808	HP:0002808	Kyphosis	0	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1			145
HP:0002808	HP:0002808	Kyphosis	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0002808	HP:0002808	Kyphosis	0	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0002808	HP:0002808	Kyphosis	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040283 - Occasional		14
HP:0002808	HP:0002808	Kyphosis	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy	.		1
HP:0002808	HP:0002808	Kyphosis	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040284 - Very rare		13
HP:0002808	HP:0002808	Kyphosis	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		1
HP:0002808	HP:0002808	Kyphosis	0	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2			99
HP:0002808	HP:0002808	Kyphosis	0	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome	.		1
HP:0002808	HP:0002808	Kyphosis	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			196
HP:0002808	HP:0002808	Kyphosis	0	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome			3
HP:0002808	HP:0002808	Kyphosis	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0002808	HP:0002808	Kyphosis	0	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome	.		134
HP:0002808	HP:0002808	Kyphosis	0	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient			411
HP:0002808	HP:0002808	Kyphosis	0	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23			411
HP:0002808	HP:0002808	Kyphosis	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0002808	HP:0002808	Kyphosis	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0002808	HP:0002808	Kyphosis	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0002808	HP:0002808	Kyphosis	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		2
HP:0002808	HP:0002808	Kyphosis	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040282 - Frequent		13
HP:0002808	HP:0002808	Kyphosis	0	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive	.		13
HP:0002808	HP:0002808	Kyphosis	0	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0002808	HP:0002808	Kyphosis	0	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome			51
HP:0002808	HP:0002808	Kyphosis	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002808	HP:0002808	Kyphosis	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		645
HP:0002808	HP:0002808	Kyphosis	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		645
HP:0002808	HP:0002808	Kyphosis	0	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1			645
HP:0002808	HP:0002808	Kyphosis	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040284 - Very rare		11
HP:0002808	HP:0002808	Kyphosis	0	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome			125
HP:0002808	HP:0002808	Kyphosis	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002808	HP:0002808	Kyphosis	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0002808	HP:0002808	Kyphosis	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent		63
HP:0002808	HP:0002808	Kyphosis	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0002808	HP:0002808	Kyphosis	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.		63
HP:0002808	HP:0002808	Kyphosis	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0002808	HP:0002808	Kyphosis	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0002808	HP:0002808	Kyphosis	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0002808	HP:0002808	Kyphosis	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	.
HP:0002808	HP:0002808	Kyphosis	0	MAPT CL E G H	4137	6893	OMIM:260540	Supranuclear palsy, progressive atypical			140
HP:0002808	HP:0002808	Kyphosis	0	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type	.
HP:0002808	HP:0002808	Kyphosis	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional		22
HP:0002808	HP:0002808	Kyphosis	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development			3
HP:0002808	HP:0002808	Kyphosis	0	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		950
HP:0002808	HP:0002808	Kyphosis	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0002808	HP:0002808	Kyphosis	0	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome	.		950
HP:0002808	HP:0002808	Kyphosis	0	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome			950
HP:0002808	HP:0002808	Kyphosis	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0002808	HP:0002808	Kyphosis	0	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional		43
HP:0002808	HP:0002808	Kyphosis	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional		43
HP:0002808	HP:0002808	Kyphosis	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002808	HP:0002808	Kyphosis	0	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome			13
HP:0002808	HP:0002808	Kyphosis	0	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040283 - Occasional		7
HP:0002808	HP:0002808	Kyphosis	0	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0002808	HP:0002808	Kyphosis	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040282 - Frequent		45
HP:0002808	HP:0002808	Kyphosis	0	MESP2 CL E G H	145873	29659	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0002808	HP:0002808	Kyphosis	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0002808	HP:0002808	Kyphosis	0	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	.		203
HP:0002808	HP:0002808	Kyphosis	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0002808	HP:0002808	Kyphosis	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional		39
HP:0002808	HP:0002808	Kyphosis	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11	.		11
HP:0002808	HP:0002808	Kyphosis	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	HP:0040282 - Frequent		11
HP:0002808	HP:0002808	Kyphosis	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0002808	HP:0002808	Kyphosis	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0002808	HP:0002808	Kyphosis	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0002808	HP:0002808	Kyphosis	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0002808	HP:0002808	Kyphosis	0	MMP14 CL E G H	4323	7160	OMIM:277950	Winchester syndrome			2
HP:0002808	HP:0002808	Kyphosis	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0002808	HP:0002808	Kyphosis	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002808	HP:0002808	Kyphosis	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0002808	HP:0002808	Kyphosis	0	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B			134
HP:0002808	HP:0002808	Kyphosis	0	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			134
HP:0002808	HP:0002808	Kyphosis	0	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome			134
HP:0002808	HP:0002808	Kyphosis	0	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia			134
HP:0002808	HP:0002808	Kyphosis	0	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32			1
HP:0002808	HP:0002808	Kyphosis	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0002808	HP:0002808	Kyphosis	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0002808	HP:0002808	Kyphosis	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0002808	HP:0002808	Kyphosis	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0002808	HP:0002808	Kyphosis	0	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0002808	HP:0002808	Kyphosis	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0002808	HP:0002808	Kyphosis	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040283 - Occasional		23
HP:0002808	HP:0002808	Kyphosis	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0002808	HP:0002808	Kyphosis	0	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0002808	HP:0002808	Kyphosis	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		13
HP:0002808	HP:0002808	Kyphosis	0	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D			82
HP:0002808	HP:0002808	Kyphosis	0	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11	.		40
HP:0002808	HP:0002808	Kyphosis	0	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15	.		50
HP:0002808	HP:0002808	Kyphosis	0	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8			22
HP:0002808	HP:0002808	Kyphosis	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040284 - Very rare		745
HP:0002808	HP:0002808	Kyphosis	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0002808	HP:0002808	Kyphosis	0	NEMF CL E G H	9147	10663	OMIM:619099	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN			1
HP:0002808	HP:0002808	Kyphosis	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0002808	HP:0002808	Kyphosis	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040283 - Occasional		43
HP:0002808	HP:0002808	Kyphosis	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional		1952
HP:0002808	HP:0002808	Kyphosis	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0002808	HP:0002808	Kyphosis	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0002808	HP:0002808	Kyphosis	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0002808	HP:0002808	Kyphosis	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0002808	HP:0002808	Kyphosis	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0002808	HP:0002808	Kyphosis	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0002808	HP:0002808	Kyphosis	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0002808	HP:0002808	Kyphosis	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional		138
HP:0002808	HP:0002808	Kyphosis	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.		144
HP:0002808	HP:0002808	Kyphosis	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040283 - Occasional		144
HP:0002808	HP:0002808	Kyphosis	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0002808	HP:0002808	Kyphosis	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type			53
HP:0002808	HP:0002808	Kyphosis	0	NPR2 CL E G H	4882	7944	ORPHA:40	Acromesomelic dysplasia, Maroteaux type	HP:0040282 - Frequent		53
HP:0002808	HP:0002808	Kyphosis	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			102
HP:0002808	HP:0002808	Kyphosis	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		544
HP:0002808	HP:0002808	Kyphosis	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0002808	HP:0002808	Kyphosis	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		118
HP:0002808	HP:0002808	Kyphosis	0	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.		34
HP:0002808	HP:0002808	Kyphosis	0	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome			34
HP:0002808	HP:0002808	Kyphosis	0	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		1
HP:0002808	HP:0002808	Kyphosis	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0002808	HP:0002808	Kyphosis	0	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4	.
HP:0002808	HP:0002808	Kyphosis	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent		2
HP:0002808	HP:0002808	Kyphosis	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040283 - Occasional		143
HP:0002808	HP:0002808	Kyphosis	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.		88
HP:0002808	HP:0002808	Kyphosis	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional		88
HP:0002808	HP:0002808	Kyphosis	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.		43
HP:0002808	HP:0002808	Kyphosis	0	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome	HP:0040282 - Frequent		2
HP:0002808	HP:0002808	Kyphosis	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0002808	HP:0002808	Kyphosis	0	PAPSS2 CL E G H	9060	8604	OMIM:612847	Brachyolmia 4 with mild epiphyseal and metaphyseal changes			20
HP:0002808	HP:0002808	Kyphosis	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.		13
HP:0002808	HP:0002808	Kyphosis	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002808	HP:0002808	Kyphosis	0	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1			72
HP:0002808	HP:0002808	Kyphosis	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.		29
HP:0002808	HP:0002808	Kyphosis	0	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome			23
HP:0002808	HP:0002808	Kyphosis	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0002808	HP:0002808	Kyphosis	0	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3			77
HP:0002808	HP:0002808	Kyphosis	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040282 - Frequent		77
HP:0002808	HP:0002808	Kyphosis	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.		77
HP:0002808	HP:0002808	Kyphosis	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		7
HP:0002808	HP:0002808	Kyphosis	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0002808	HP:0002808	Kyphosis	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0002808	HP:0002808	Kyphosis	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		162
HP:0002808	HP:0002808	Kyphosis	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.		162
HP:0002808	HP:0002808	Kyphosis	0	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome	.		12
HP:0002808	HP:0002808	Kyphosis	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0002808	HP:0002808	Kyphosis	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent		3
HP:0002808	HP:0002808	Kyphosis	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0002808	HP:0002808	Kyphosis	0	PLOD2 CL E G H	5352	9082	ORPHA:2771	Bruck syndrome	HP:0040282 - Frequent		45
HP:0002808	HP:0002808	Kyphosis	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.		150
HP:0002808	HP:0002808	Kyphosis	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0002808	HP:0002808	Kyphosis	0	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A			79
HP:0002808	HP:0002808	Kyphosis	0	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A			79
HP:0002808	HP:0002808	Kyphosis	0	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			79
HP:0002808	HP:0002808	Kyphosis	0	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome			79
HP:0002808	HP:0002808	Kyphosis	0	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia			79
HP:0002808	HP:0002808	Kyphosis	0	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4			244
HP:0002808	HP:0002808	Kyphosis	0	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.		731
HP:0002808	HP:0002808	Kyphosis	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0002808	HP:0002808	Kyphosis	0	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			213
HP:0002808	HP:0002808	Kyphosis	0	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2			6
HP:0002808	HP:0002808	Kyphosis	0	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX	.		39
HP:0002808	HP:0002808	Kyphosis	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0002808	HP:0002808	Kyphosis	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0002808	HP:0002808	Kyphosis	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0002808	HP:0002808	Kyphosis	0	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0002808	HP:0002808	Kyphosis	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0002808	HP:0002808	Kyphosis	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.		134
HP:0002808	HP:0002808	Kyphosis	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002808	HP:0002808	Kyphosis	0	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0002808	HP:0002808	Kyphosis	0	PRPS1 CL E G H	5631	9462	ORPHA:99014	X-linked Charcot-Marie-Tooth disease type 5	HP:0040283 - Occasional		49
HP:0002808	HP:0002808	Kyphosis	0	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			170
HP:0002808	HP:0002808	Kyphosis	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0002808	HP:0002808	Kyphosis	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040282 - Frequent		665
HP:0002808	HP:0002808	Kyphosis	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0002808	HP:0002808	Kyphosis	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040283 - Occasional		6
HP:0002808	HP:0002808	Kyphosis	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		948
HP:0002808	HP:0002808	Kyphosis	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.		948
HP:0002808	HP:0002808	Kyphosis	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent		948
HP:0002808	HP:0002808	Kyphosis	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1			291
HP:0002808	HP:0002808	Kyphosis	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0002808	HP:0002808	Kyphosis	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0002808	HP:0002808	Kyphosis	0	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040282 - Frequent		57
HP:0002808	HP:0002808	Kyphosis	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0002808	HP:0002808	Kyphosis	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0002808	HP:0002808	Kyphosis	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent		85
HP:0002808	HP:0002808	Kyphosis	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0002808	HP:0002808	Kyphosis	0	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome			31
HP:0002808	HP:0002808	Kyphosis	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent		90
HP:0002808	HP:0002808	Kyphosis	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1			90
HP:0002808	HP:0002808	Kyphosis	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent		135
HP:0002808	HP:0002808	Kyphosis	0	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome			1
HP:0002808	HP:0002808	Kyphosis	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome			1
HP:0002808	HP:0002808	Kyphosis	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0002808	HP:0002808	Kyphosis	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0002808	HP:0002808	Kyphosis	0	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB	.		572
HP:0002808	HP:0002808	Kyphosis	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002808	HP:0002808	Kyphosis	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040282 - Frequent		3
HP:0002808	HP:0002808	Kyphosis	0	RIPPLY2 CL E G H	134701	21390	OMIM:616566	Spondylocostal dysostosis 6, autosomal recessive			3
HP:0002808	HP:0002808	Kyphosis	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0002808	HP:0002808	Kyphosis	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0002808	HP:0002808	Kyphosis	0	ROBO3 CL E G H	64221	13433	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis	HP:0040281 - Very frequent		90
HP:0002808	HP:0002808	Kyphosis	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent		120
HP:0002808	HP:0002808	Kyphosis	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.		65
HP:0002808	HP:0002808	Kyphosis	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040281 - Very frequent		65
HP:0002808	HP:0002808	Kyphosis	0	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19			65
HP:0002808	HP:0002808	Kyphosis	0	RPS6KA3 CL E G H	6197	10432	ORPHA:276630	Symptomatic form of Coffin-Lowry syndrome in female carriers	HP:0040283 - Occasional		65
HP:0002808	HP:0002808	Kyphosis	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0002808	HP:0002808	Kyphosis	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0002808	HP:0002808	Kyphosis	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.		90
HP:0002808	HP:0002808	Kyphosis	0	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease			1200
HP:0002808	HP:0002808	Kyphosis	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0002808	HP:0002808	Kyphosis	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0002808	HP:0002808	Kyphosis	0	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2			180
HP:0002808	HP:0002808	Kyphosis	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040282 - Frequent		77
HP:0002808	HP:0002808	Kyphosis	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		237
HP:0002808	HP:0002808	Kyphosis	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		147
HP:0002808	HP:0002808	Kyphosis	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		129
HP:0002808	HP:0002808	Kyphosis	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		60
HP:0002808	HP:0002808	Kyphosis	0	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome	HP:0040282 - Frequent		5
HP:0002808	HP:0002808	Kyphosis	0	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2	.		5
HP:0002808	HP:0002808	Kyphosis	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0002808	HP:0002808	Kyphosis	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0002808	HP:0002808	Kyphosis	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		60
HP:0002808	HP:0002808	Kyphosis	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional		43
HP:0002808	HP:0002808	Kyphosis	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0002808	HP:0002808	Kyphosis	0	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0002808	HP:0002808	Kyphosis	0	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040282 - Frequent		134
HP:0002808	HP:0002808	Kyphosis	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0002808	HP:0002808	Kyphosis	0	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type	HP:0040282 - Frequent		42
HP:0002808	HP:0002808	Kyphosis	0	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome	.		67
HP:0002808	HP:0002808	Kyphosis	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040283 - Occasional		9
HP:0002808	HP:0002808	Kyphosis	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0002808	HP:0002808	Kyphosis	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0002808	HP:0002808	Kyphosis	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0002808	HP:0002808	Kyphosis	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002808	HP:0002808	Kyphosis	0	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41			3
HP:0002808	HP:0002808	Kyphosis	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0002808	HP:0002808	Kyphosis	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0002808	HP:0002808	Kyphosis	0	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II			166
HP:0002808	HP:0002808	Kyphosis	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040282 - Frequent		166
HP:0002808	HP:0002808	Kyphosis	0	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0002808	HP:0002808	Kyphosis	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0002808	HP:0002808	Kyphosis	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0002808	HP:0002808	Kyphosis	0	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2			47
HP:0002808	HP:0002808	Kyphosis	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.		51
HP:0002808	HP:0002808	Kyphosis	0	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic	.		9
HP:0002808	HP:0002808	Kyphosis	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0002808	HP:0002808	Kyphosis	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0002808	HP:0002808	Kyphosis	0	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		135
HP:0002808	HP:0002808	Kyphosis	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0002808	HP:0002808	Kyphosis	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040282 - Frequent		19
HP:0002808	HP:0002808	Kyphosis	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002808	HP:0002808	Kyphosis	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0002808	HP:0002808	Kyphosis	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0002808	HP:0002808	Kyphosis	0	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome	HP:0040282 - Frequent		6
HP:0002808	HP:0002808	Kyphosis	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0002808	HP:0002808	Kyphosis	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0002808	HP:0002808	Kyphosis	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0002808	HP:0002808	Kyphosis	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome	.		12
HP:0002808	HP:0002808	Kyphosis	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0002808	HP:0002808	Kyphosis	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040283 - Occasional		109
HP:0002808	HP:0002808	Kyphosis	0	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive			66
HP:0002808	HP:0002808	Kyphosis	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0002808	HP:0002808	Kyphosis	0	SPG11 CL E G H	80208	11226	OMIM:616668	Charcot-Marie-Tooth disease, axonal, type 2X			287
HP:0002808	HP:0002808	Kyphosis	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0002808	HP:0002808	Kyphosis	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002808	HP:0002808	Kyphosis	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0002808	HP:0002808	Kyphosis	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0002808	HP:0002808	Kyphosis	0	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome			80
HP:0002808	HP:0002808	Kyphosis	0	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG	HP:0040283 - Occasional		80
HP:0002808	HP:0002808	Kyphosis	0	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch			14
HP:0002808	HP:0002808	Kyphosis	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002808	HP:0002808	Kyphosis	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0002808	HP:0002808	Kyphosis	0	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K			73
HP:0002808	HP:0002808	Kyphosis	0	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0002808	HP:0002808	Kyphosis	0	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type	.		1129
HP:0002808	HP:0002808	Kyphosis	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		1129
HP:0002808	HP:0002808	Kyphosis	0	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040283 - Occasional		1129
HP:0002808	HP:0002808	Kyphosis	0	SYNE1 CL E G H	23345	17089	OMIM:610743	Spinocerebellar ataxia, autosomal recessive 8	.		1129
HP:0002808	HP:0002808	Kyphosis	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		508
HP:0002808	HP:0002808	Kyphosis	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0002808	HP:0002808	Kyphosis	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0002808	HP:0002808	Kyphosis	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0002808	HP:0002808	Kyphosis	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent		15
HP:0002808	HP:0002808	Kyphosis	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002808	HP:0002808	Kyphosis	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0002808	HP:0002808	Kyphosis	0	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome	HP:0040282 - Frequent		123
HP:0002808	HP:0002808	Kyphosis	0	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26			28
HP:0002808	HP:0002808	Kyphosis	0	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18			31
HP:0002808	HP:0002808	Kyphosis	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0002808	HP:0002808	Kyphosis	0	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome			12
HP:0002808	HP:0002808	Kyphosis	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0002808	HP:0002808	Kyphosis	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional		13
HP:0002808	HP:0002808	Kyphosis	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0002808	HP:0002808	Kyphosis	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.		1
HP:0002808	HP:0002808	Kyphosis	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0002808	HP:0002808	Kyphosis	0	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK			24
HP:0002808	HP:0002808	Kyphosis	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3			33
HP:0002808	HP:0002808	Kyphosis	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002808	HP:0002808	Kyphosis	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		171
HP:0002808	HP:0002808	Kyphosis	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset	.		44
HP:0002808	HP:0002808	Kyphosis	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0002808	HP:0002808	Kyphosis	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0002808	HP:0002808	Kyphosis	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0002808	HP:0002808	Kyphosis	0	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant	.		47
HP:0002808	HP:0002808	Kyphosis	0	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency	.		28
HP:0002808	HP:0002808	Kyphosis	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0002808	HP:0002808	Kyphosis	0	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4			54
HP:0002808	HP:0002808	Kyphosis	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040284 - Very rare		54
HP:0002808	HP:0002808	Kyphosis	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0002808	HP:0002808	Kyphosis	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda			46
HP:0002808	HP:0002808	Kyphosis	0	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked	.		46
HP:0002808	HP:0002808	Kyphosis	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44	HP:0040283 - Occasional		8
HP:0002808	HP:0002808	Kyphosis	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0002808	HP:0002808	Kyphosis	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0002808	HP:0002808	Kyphosis	0	TRPV4 CL E G H	59341	18083	ORPHA:93304	Autosomal dominant brachyolmia			214
HP:0002808	HP:0002808	Kyphosis	0	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3	.		214
HP:0002808	HP:0002808	Kyphosis	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	.		214
HP:0002808	HP:0002808	Kyphosis	0	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia	HP:0040281 - Very frequent		214
HP:0002808	HP:0002808	Kyphosis	0	TRPV4 CL E G H	59341	18083	OMIM:168400	Parastremmatic dwarfism	.		214
HP:0002808	HP:0002808	Kyphosis	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.		214
HP:0002808	HP:0002808	Kyphosis	0	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive	.		214
HP:0002808	HP:0002808	Kyphosis	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040283 - Occasional		214
HP:0002808	HP:0002808	Kyphosis	0	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0002808	HP:0002808	Kyphosis	0	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0002808	HP:0002808	Kyphosis	0	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39			11
HP:0002808	HP:0002808	Kyphosis	0	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome			11
HP:0002808	HP:0002808	Kyphosis	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0002808	HP:0002808	Kyphosis	0	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type			66
HP:0002808	HP:0002808	Kyphosis	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy			35
HP:0002808	HP:0002808	Kyphosis	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002808	HP:0002808	Kyphosis	0	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	HP:0040283 - Occasional		1
HP:0002808	HP:0002808	Kyphosis	0	UFSP2 CL E G H	55325	25640	ORPHA:2114	Hip dysplasia, Beukes type	HP:0040283 - Occasional		2
HP:0002808	HP:0002808	Kyphosis	0	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14			33
HP:0002808	HP:0002808	Kyphosis	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		1
HP:0002808	HP:0002808	Kyphosis	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0002808	HP:0002808	Kyphosis	0	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.		7
HP:0002808	HP:0002808	Kyphosis	0	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic	.		2
HP:0002808	HP:0002808	Kyphosis	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002808	HP:0002808	Kyphosis	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040283 - Occasional		546
HP:0002808	HP:0002808	Kyphosis	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0002808	HP:0002808	Kyphosis	0	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53	HP:0040282 - Frequent		7
HP:0002808	HP:0002808	Kyphosis	0	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53			7
HP:0002808	HP:0002808	Kyphosis	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002808	HP:0002808	Kyphosis	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent		83
HP:0002808	HP:0002808	Kyphosis	0	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures			1
HP:0002808	HP:0002808	Kyphosis	0	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2			27
HP:0002808	HP:0002808	Kyphosis	0	WIPI2 CL E G H	26100	32225	OMIM:618453	Intellectual developmental disorder with short stature and variable skeletal anomalies	.
HP:0002808	HP:0002808	Kyphosis	0	WNT1 CL E G H	7471	12774	ORPHA:85193	Idiopathic juvenile osteoporosis	HP:0040283 - Occasional		12
HP:0002808	HP:0002808	Kyphosis	0	WNT3A CL E G H	89780	15983	ORPHA:85193	Idiopathic juvenile osteoporosis	HP:0040283 - Occasional
HP:0002808	HP:0002808	Kyphosis	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0002808	HP:0002808	Kyphosis	0	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040282 - Frequent		45
HP:0002808	HP:0002808	Kyphosis	0	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	HP:0040281 - Very frequent		17
HP:0002808	HP:0002808	Kyphosis	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.		17
HP:0002808	HP:0002808	Kyphosis	0	ZC4H2 CL E G H	55906	24931	ORPHA:3454	Intellectual disability-developmental delay-contractures syndrome	HP:0040283 - Occasional		19
HP:0002808	HP:0002808	Kyphosis	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.		19
HP:0002808	HP:0002808	Kyphosis	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0002808	HP:0002808	Kyphosis	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0002808	HP:0002808	Kyphosis	0	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0002808	HP:0002751	Kyphoscoliosis	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.		16
HP:0002808	HP:0002751	Kyphoscoliosis	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0002808	HP:0002751	Kyphoscoliosis	1	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset	.		72
HP:0002808	HP:0002751	Kyphoscoliosis	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0002808	HP:0002751	Kyphoscoliosis	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		127
HP:0002808	HP:0002751	Kyphoscoliosis	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0002808	HP:0002942	Thoracic kyphosis	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.		60
HP:0002808	HP:0002751	Kyphoscoliosis	1	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3	.		4
HP:0002808	HP:0002751	Kyphoscoliosis	1	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17	.		1
HP:0002808	HP:0002751	Kyphoscoliosis	1	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.		54
HP:0002808	HP:0002751	Kyphoscoliosis	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040283 - Occasional		89
HP:0002808	HP:0002942	Thoracic kyphosis	1	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome	.		87
HP:0002808	HP:0002942	Thoracic kyphosis	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0002808	HP:0002942	Thoracic kyphosis	1	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent		102
HP:0002808	HP:0002942	Thoracic kyphosis	1	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.		102
HP:0002808	HP:0002942	Thoracic kyphosis	1	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0002808	HP:0002751	Kyphoscoliosis	1	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0002808	HP:0002751	Kyphoscoliosis	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0002808	HP:0002947	Cervical kyphosis	1	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0002808	HP:0002751	Kyphoscoliosis	1	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4	.
HP:0002808	HP:0002751	Kyphoscoliosis	1	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0002808	HP:0002751	Kyphoscoliosis	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent		140
HP:0002808	HP:0002751	Kyphoscoliosis	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0002808	HP:0002751	Kyphoscoliosis	1	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.		2
HP:0002808	HP:0002751	Kyphoscoliosis	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.		169
HP:0002808	HP:0002751	Kyphoscoliosis	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.		169
HP:0002808	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:0002808	HP:0002751	Kyphoscoliosis	1	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2	.		38
HP:0002808	HP:0002751	Kyphoscoliosis	1	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040282 - Frequent		38
HP:0002808	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:0002808	HP:0002751	Kyphoscoliosis	1	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional		29
HP:0002808	HP:0002751	Kyphoscoliosis	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.	HP:0003577 - Congenital onset	101
HP:0002808	HP:0002751	Kyphoscoliosis	1	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII	HP:0040283 - Occasional		49
HP:0002808	HP:0002751	Kyphoscoliosis	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1	.		276
HP:0002808	HP:0002942	Thoracic kyphosis	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0002808	HP:0002751	Kyphoscoliosis	1	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency	.		242
HP:0002808	HP:0002751	Kyphoscoliosis	1	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood	.
HP:0002808	HP:0002751	Kyphoscoliosis	1	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0002808	HP:0002942	Thoracic kyphosis	1	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0002808	HP:0002942	Thoracic kyphosis	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0002808	HP:0002751	Kyphoscoliosis	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0002808	HP:0002751	Kyphoscoliosis	1	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7			35
HP:0002808	HP:0002751	Kyphoscoliosis	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		65
HP:0002808	HP:0002947	Cervical kyphosis	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040282 - Frequent		27
HP:0002808	HP:0002751	Kyphoscoliosis	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040282 - Frequent		27
HP:0002808	HP:0002751	Kyphoscoliosis	1	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia	HP:0040282 - Frequent		165
HP:0002808	HP:0002751	Kyphoscoliosis	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.		165
HP:0002808	HP:0002751	Kyphoscoliosis	1	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32			4
HP:0002808	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:0002808	HP:0002751	Kyphoscoliosis	1	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.		7
HP:0002808	HP:0002751	Kyphoscoliosis	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040283 - Occasional		52
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional		65
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2			65
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		6
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional		243
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type	.		284
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis	HP:0040281 - Very frequent		284
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type	.		284
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040283 - Occasional		284
HP:0002808	HP:0002751	Kyphoscoliosis	1	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.		24
HP:0002808	HP:0002751	Kyphoscoliosis	1	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040283 - Occasional
HP:0002808	HP:0002751	Kyphoscoliosis	1	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	.		17
HP:0002808	HP:0002942	Thoracic kyphosis	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional		114
HP:0002808	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:0002808	HP:0002751	Kyphoscoliosis	1	DLL3 CL E G H	10683	2909	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0002808	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:0002808	HP:0002751	Kyphoscoliosis	1	DNA2 CL E G H	1763	2939	OMIM:615807	Seckel syndrome 8	.		41
HP:0002808	HP:0002751	Kyphoscoliosis	1	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040282 - Frequent		44
HP:0002808	HP:0002751	Kyphoscoliosis	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040282 - Frequent		13
HP:0002808	HP:0002947	Cervical kyphosis	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040282 - Frequent		13
HP:0002808	HP:0002751	Kyphoscoliosis	1	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23	HP:0040282 - Frequent		13
HP:0002808	HP:0002751	Kyphoscoliosis	1	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0002808	HP:0002942	Thoracic kyphosis	1	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.		65
HP:0002808	HP:0002751	Kyphoscoliosis	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0002808	HP:0002751	Kyphoscoliosis	1	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0002808	HP:0002751	Kyphoscoliosis	1	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		58
HP:0002808	HP:0002751	Kyphoscoliosis	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0002808	HP:0002751	Kyphoscoliosis	1	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.		20
HP:0002808	HP:0002751	Kyphoscoliosis	1	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0002808	HP:0002942	Thoracic kyphosis	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0002808	HP:0002942	Thoracic kyphosis	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0002808	HP:0002751	Kyphoscoliosis	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.		199
HP:0002808	HP:0002751	Kyphoscoliosis	1	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040282 - Frequent		3
HP:0002808	HP:0002751	Kyphoscoliosis	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.		3
HP:0002808	HP:0002942	Thoracic kyphosis	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities			3
HP:0002808	HP:0002942	Thoracic kyphosis	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0002808	HP:0002751	Kyphoscoliosis	1	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040283 - Occasional		36
HP:0002808	HP:0002751	Kyphoscoliosis	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0002808	HP:0002751	Kyphoscoliosis	1	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly			655
HP:0002808	HP:0002751	Kyphoscoliosis	1	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0002808	HP:0002942	Thoracic kyphosis	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002808	HP:0002942	Thoracic kyphosis	1	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia			145
HP:0002808	HP:0002751	Kyphoscoliosis	1	FKBP10 CL E G H	60681	18169	OMIM:610968	Osteogenesis imperfecta, type XI	.		61
HP:0002808	HP:0002751	Kyphoscoliosis	1	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	.		13
HP:0002808	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:0002808	HP:0002751	Kyphoscoliosis	1	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040283 - Occasional		157
HP:0002808	HP:0002751	Kyphoscoliosis	1	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040283 - Occasional		184
HP:0002808	HP:0002751	Kyphoscoliosis	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.		493
HP:0002808	HP:0002942	Thoracic kyphosis	1	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III			233
HP:0002808	HP:0002947	Cervical kyphosis	1	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III	.		233
HP:0002808	HP:0002947	Cervical kyphosis	1	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.		233
HP:0002808	HP:0002751	Kyphoscoliosis	1	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	.		3
HP:0002808	HP:0002942	Thoracic kyphosis	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0002808	HP:0002751	Kyphoscoliosis	1	GDAP1 CL E G H	54332	15968	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K	.		108
HP:0002808	HP:0002751	Kyphoscoliosis	1	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A	HP:0040282 - Frequent		108
HP:0002808	HP:0002942	Thoracic kyphosis	1	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II			120
HP:0002808	HP:0002751	Kyphoscoliosis	1	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0002808	HP:0002751	Kyphoscoliosis	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0002808	HP:0002942	Thoracic kyphosis	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0002808	HP:0002751	Kyphoscoliosis	1	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.		52
HP:0002808	HP:0002942	Thoracic kyphosis	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0002808	HP:0002942	Thoracic kyphosis	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0002808	HP:0002942	Thoracic kyphosis	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0002808	HP:0002751	Kyphoscoliosis	1	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia	.
HP:0002808	HP:0002751	Kyphoscoliosis	1	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome	.
HP:0002808	HP:0002751	Kyphoscoliosis	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0002808	HP:0002751	Kyphoscoliosis	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040282 - Frequent		16
HP:0002808	HP:0002751	Kyphoscoliosis	1	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.		86
HP:0002808	HP:0002751	Kyphoscoliosis	1	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13	HP:0040283 - Occasional		2
HP:0002808	HP:0002751	Kyphoscoliosis	1	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		113
HP:0002808	HP:0002751	Kyphoscoliosis	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0002808	HP:0002947	Cervical kyphosis	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0002808	HP:0002751	Kyphoscoliosis	1	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0002808	HP:0002751	Kyphoscoliosis	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.		52
HP:0002808	HP:0002751	Kyphoscoliosis	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0002808	HP:0002751	Kyphoscoliosis	1	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0002808	HP:0002751	Kyphoscoliosis	1	JPH1 CL E G H	56704	14201	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K	.		1
HP:0002808	HP:0002751	Kyphoscoliosis	1	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1	HP:0040283 - Occasional		145
HP:0002808	HP:0002942	Thoracic kyphosis	1	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0002808	HP:0002751	Kyphoscoliosis	1	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040283 - Occasional		14
HP:0002808	HP:0002751	Kyphoscoliosis	1	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		196
HP:0002808	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:0002808	HP:0002942	Thoracic kyphosis	1	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0002808	HP:0002751	Kyphoscoliosis	1	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient			411
HP:0002808	HP:0002942	Thoracic kyphosis	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0002808	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:0002808	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:0002808	HP:0002751	Kyphoscoliosis	1	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1	.		645
HP:0002808	HP:0002751	Kyphoscoliosis	1	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome	.		125
HP:0002808	HP:0002942	Thoracic kyphosis	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0002808	HP:0002751	Kyphoscoliosis	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1	.		134
HP:0002808	HP:0002751	Kyphoscoliosis	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0002808	HP:0002751	Kyphoscoliosis	1	MAPT CL E G H	4137	6893	OMIM:260540	Supranuclear palsy, progressive atypical	.		140
HP:0002808	HP:0002751	Kyphoscoliosis	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0002808	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:0002808	HP:0002942	Thoracic kyphosis	1	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0002808	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:0002808	HP:0002751	Kyphoscoliosis	1	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome	HP:0040283 - Occasional		13
HP:0002808	HP:0002751	Kyphoscoliosis	1	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0002808	HP:0002751	Kyphoscoliosis	1	MESP2 CL E G H	145873	29659	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0002808	HP:0002942	Thoracic kyphosis	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0002808	HP:0002751	Kyphoscoliosis	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0002808	HP:0002751	Kyphoscoliosis	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0002808	HP:0002751	Kyphoscoliosis	1	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0002808	HP:0002942	Thoracic kyphosis	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0002808	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:0002808	HP:0002751	Kyphoscoliosis	1	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		134
HP:0002808	HP:0002751	Kyphoscoliosis	1	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent		134
HP:0002808	HP:0002751	Kyphoscoliosis	1	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.		134
HP:0002808	HP:0002751	Kyphoscoliosis	1	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32	.		1
HP:0002808	HP:0002751	Kyphoscoliosis	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040283 - Occasional		81
HP:0002808	HP:0002751	Kyphoscoliosis	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0002808	HP:0002751	Kyphoscoliosis	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.		166
HP:0002808	HP:0002751	Kyphoscoliosis	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0002808	HP:0002751	Kyphoscoliosis	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional
HP:0002808	HP:0002751	Kyphoscoliosis	1	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.	HP:0003577 - Congenital onset	23
HP:0002808	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:0002808	HP:0002751	Kyphoscoliosis	1	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D	HP:0040283 - Occasional		82
HP:0002808	HP:0002751	Kyphoscoliosis	1	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8	.		22
HP:0002808	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:0002808	HP:0002942	Thoracic kyphosis	1	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0002808	HP:0002751	Kyphoscoliosis	1	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0002808	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:0002808	HP:0002751	Kyphoscoliosis	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional		40
HP:0002808	HP:0002942	Thoracic kyphosis	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0002808	HP:0002751	Kyphoscoliosis	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0002808	HP:0002751	Kyphoscoliosis	1	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0002808	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:0002808	HP:0002751	Kyphoscoliosis	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0002808	HP:0002751	Kyphoscoliosis	1	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.		138
HP:0002808	HP:0002942	Thoracic kyphosis	1	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type			53
HP:0002808	HP:0002751	Kyphoscoliosis	1	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		102
HP:0002808	HP:0002751	Kyphoscoliosis	1	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040281 - Very frequent		34
HP:0002808	HP:0002751	Kyphoscoliosis	1	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0002808	HP:0002751	Kyphoscoliosis	1	PAPSS2 CL E G H	9060	8604	OMIM:612847	Brachyolmia 4 with mild epiphyseal and metaphyseal changes	.		20
HP:0002808	HP:0002751	Kyphoscoliosis	1	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1	.		72
HP:0002808	HP:0002942	Thoracic kyphosis	1	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome	.		23
HP:0002808	HP:0002751	Kyphoscoliosis	1	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.		77
HP:0002808	HP:0002942	Thoracic kyphosis	1	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040283 - Occasional
HP:0002808	HP:0002942	Thoracic kyphosis	1	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome	.
HP:0002808	HP:0002751	Kyphoscoliosis	1	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0002808	HP:0002751	Kyphoscoliosis	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent		150
HP:0002808	HP:0002751	Kyphoscoliosis	1	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A	HP:0040283 - Occasional		79
HP:0002808	HP:0002751	Kyphoscoliosis	1	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A	.		79
HP:0002808	HP:0002751	Kyphoscoliosis	1	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		79
HP:0002808	HP:0002751	Kyphoscoliosis	1	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent		79
HP:0002808	HP:0002751	Kyphoscoliosis	1	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.		79
HP:0002808	HP:0002751	Kyphoscoliosis	1	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4	HP:0040283 - Occasional		244
HP:0002808	HP:0002751	Kyphoscoliosis	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0002808	HP:0002751	Kyphoscoliosis	1	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040283 - Occasional		213
HP:0002808	HP:0002751	Kyphoscoliosis	1	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2			6
HP:0002808	HP:0002942	Thoracic kyphosis	1	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2			6
HP:0002808	HP:0002751	Kyphoscoliosis	1	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0002808	HP:0002751	Kyphoscoliosis	1	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0002808	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:0002808	HP:0002942	Thoracic kyphosis	1	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0002808	HP:0002751	Kyphoscoliosis	1	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		170
HP:0002808	HP:0002751	Kyphoscoliosis	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome	.		665
HP:0002808	HP:0002751	Kyphoscoliosis	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome	.		40
HP:0002808	HP:0002751	Kyphoscoliosis	1	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.		291
HP:0002808	HP:0002751	Kyphoscoliosis	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1	.		291
HP:0002808	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:0002808	HP:0002751	Kyphoscoliosis	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.		85
HP:0002808	HP:0002751	Kyphoscoliosis	1	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome	HP:0040283 - Occasional		31
HP:0002808	HP:0002751	Kyphoscoliosis	1	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1	.		90
HP:0002808	HP:0002751	Kyphoscoliosis	1	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome	.		1
HP:0002808	HP:0002751	Kyphoscoliosis	1	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040282 - Frequent		1
HP:0002808	HP:0002751	Kyphoscoliosis	1	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0002808	HP:0002947	Cervical kyphosis	1	RIPPLY2 CL E G H	134701	21390	OMIM:616566	Spondylocostal dysostosis 6, autosomal recessive	.		3
HP:0002808	HP:0002942	Thoracic kyphosis	1	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0002808	HP:0002942	Thoracic kyphosis	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0002808	HP:0002751	Kyphoscoliosis	1	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19			65
HP:0002808	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:0002808	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:0002808	HP:0002751	Kyphoscoliosis	1	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040282 - Frequent		1200
HP:0002808	HP:0002751	Kyphoscoliosis	1	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0002808	HP:0002942	Thoracic kyphosis	1	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0002808	HP:0002751	Kyphoscoliosis	1	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0002808	HP:0002751	Kyphoscoliosis	1	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2	.		180
HP:0002808	HP:0002751	Kyphoscoliosis	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0002808	HP:0002751	Kyphoscoliosis	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional		143
HP:0002808	HP:0002751	Kyphoscoliosis	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0002808	HP:0002751	Kyphoscoliosis	1	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	.
HP:0002808	HP:0002751	Kyphoscoliosis	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040282 - Frequent		57
HP:0002808	HP:0002751	Kyphoscoliosis	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0002808	HP:0002751	Kyphoscoliosis	1	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41	.		3
HP:0002808	HP:0002751	Kyphoscoliosis	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		28
HP:0002808	HP:0002942	Thoracic kyphosis	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0002808	HP:0002947	Cervical kyphosis	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040283 - Occasional		166
HP:0002808	HP:0002751	Kyphoscoliosis	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0002808	HP:0002947	Cervical kyphosis	1	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II			166
HP:0002808	HP:0002751	Kyphoscoliosis	1	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia	.		166
HP:0002808	HP:0002947	Cervical kyphosis	1	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia	.		166
HP:0002808	HP:0002947	Cervical kyphosis	1	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional		166
HP:0002808	HP:0002751	Kyphoscoliosis	1	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0002808	HP:0002751	Kyphoscoliosis	1	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	HP:0040283 - Occasional		47
HP:0002808	HP:0002751	Kyphoscoliosis	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		9
HP:0002808	HP:0002942	Thoracic kyphosis	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.		74
HP:0002808	HP:0002751	Kyphoscoliosis	1	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.		19
HP:0002808	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:0002808	HP:0002751	Kyphoscoliosis	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0002808	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:0002808	HP:0002751	Kyphoscoliosis	1	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0002808	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:0002808	HP:0002947	Cervical kyphosis	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0002808	HP:0002751	Kyphoscoliosis	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.		109
HP:0002808	HP:0002751	Kyphoscoliosis	1	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.		66
HP:0002808	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:0002808	HP:0002751	Kyphoscoliosis	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0002808	HP:0002751	Kyphoscoliosis	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional		138
HP:0002808	HP:0002942	Thoracic kyphosis	1	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome	.		80
HP:0002808	HP:0002751	Kyphoscoliosis	1	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	.		14
HP:0002808	HP:0002751	Kyphoscoliosis	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome	.		124
HP:0002808	HP:0002751	Kyphoscoliosis	1	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K			73
HP:0002808	HP:0002751	Kyphoscoliosis	1	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0002808	HP:0002751	Kyphoscoliosis	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		4
HP:0002808	HP:0002942	Thoracic kyphosis	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0002808	HP:0002751	Kyphoscoliosis	1	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18	.		31
HP:0002808	HP:0002751	Kyphoscoliosis	1	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional		12
HP:0002808	HP:0002751	Kyphoscoliosis	1	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome	.		12
HP:0002808	HP:0002751	Kyphoscoliosis	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0002808	HP:0002751	Kyphoscoliosis	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0002808	HP:0002751	Kyphoscoliosis	1	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK	.		24
HP:0002808	HP:0002942	Thoracic kyphosis	1	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent		33
HP:0002808	HP:0002751	Kyphoscoliosis	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0002808	HP:0002751	Kyphoscoliosis	1	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0002808	HP:0002942	Thoracic kyphosis	1	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0002808	HP:0002751	Kyphoscoliosis	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0002808	HP:0002751	Kyphoscoliosis	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0002808	HP:0002751	Kyphoscoliosis	1	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4	.		54
HP:0002808	HP:0002751	Kyphoscoliosis	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0002808	HP:0002751	Kyphoscoliosis	1	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040283 - Occasional		46
HP:0002808	HP:0002942	Thoracic kyphosis	1	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040283 - Occasional		46
HP:0002808	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:0002808	HP:0002751	Kyphoscoliosis	1	TRPV4 CL E G H	59341	18083	ORPHA:93304	Autosomal dominant brachyolmia	HP:0040281 - Very frequent		214
HP:0002808	HP:0002751	Kyphoscoliosis	1	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0002808	HP:0002751	Kyphoscoliosis	1	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type	.		214
HP:0002808	HP:0002942	Thoracic kyphosis	1	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040283 - Occasional		214
HP:0002808	HP:0002751	Kyphoscoliosis	1	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39	.		11
HP:0002808	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:0002808	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:0002808	HP:0002751	Kyphoscoliosis	1	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type	HP:0040283 - Occasional		66
HP:0002808	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:0002808	HP:0002751	Kyphoscoliosis	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0002808	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:0002808	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:0002808	HP:0002942	Thoracic kyphosis	1	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2	.		27
HP:0002808	HP:0002942	Thoracic kyphosis	1	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040281 - Very frequent		5
HP:0002808	HP:0002751	Kyphoscoliosis	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.		83
HP:0002808	HP:0005619	Thoracolumbar kyphosis	2	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.		34
HP:0002808	HP:0004619	Lumbar kyphoscoliosis	2	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0002808	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:0002808	HP:0005619	Thoracolumbar kyphosis	2	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0002808	HP:0003423	Thoracolumbar kyphoscoliosis	2	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040282 - Frequent
HP:0002808	HP:0005619	Thoracolumbar kyphosis	2	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0002808	HP:0003423	Thoracolumbar kyphoscoliosis	2	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040282 - Frequent		2
HP:0002808	HP:0004619	Lumbar kyphoscoliosis	2	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.		284
HP:0002808	HP:0005619	Thoracolumbar kyphosis	2	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0002808	HP:0005619	Thoracolumbar kyphosis	2	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities			3
HP:0002808	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:0002808	HP:0008453	Congenital kyphoscoliosis	2	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly	HP:0040281 - Very frequent		655
HP:0002808	HP:0008453	Congenital kyphoscoliosis	2	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.		655
HP:0002808	HP:0005619	Thoracolumbar kyphosis	2	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002808	HP:0005619	Thoracolumbar kyphosis	2	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040281 - Very frequent		145
HP:0002808	HP:0005619	Thoracolumbar kyphosis	2	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III	HP:0040283 - Occasional		233
HP:0002808	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:0002808	HP:0005619	Thoracolumbar kyphosis	2	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II			120
HP:0002808	HP:0003423	Thoracolumbar kyphoscoliosis	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.		240
HP:0002808	HP:0005619	Thoracolumbar kyphosis	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0002808	HP:0005619	Thoracolumbar kyphosis	2	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.		54
HP:0002808	HP:0005619	Thoracolumbar kyphosis	2	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040283 - Occasional		14
HP:0002808	HP:0005619	Thoracolumbar kyphosis	2	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0002808	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:0002808	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:0002808	HP:0005619	Thoracolumbar kyphosis	2	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.		136
HP:0002808	HP:0005619	Thoracolumbar kyphosis	2	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0002808	HP:0003423	Thoracolumbar kyphoscoliosis	2	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.		39
HP:0002808	HP:0005619	Thoracolumbar kyphosis	2	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0002808	HP:0005619	Thoracolumbar kyphosis	2	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0002808	HP:0003423	Thoracolumbar kyphoscoliosis	2	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0002808	HP:0004633	Lower thoracic kyphosis	2	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.		53
HP:0002808	HP:0005619	Thoracolumbar kyphosis	2	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.		53
HP:0002808	HP:0005619	Thoracolumbar kyphosis	2	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2			6
HP:0002808	HP:0003423	Thoracolumbar kyphoscoliosis	2	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	.		6
HP:0002808	HP:0005619	Thoracolumbar kyphosis	2	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0002808	HP:0003423	Thoracolumbar kyphoscoliosis	2	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent		166
HP:0002808	HP:0003423	Thoracolumbar kyphoscoliosis	3	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040282 - Frequent
HP:0002808	HP:0003423	Thoracolumbar kyphoscoliosis	3	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040282 - Frequent		2
HP:0002808	HP:0003423	Thoracolumbar kyphoscoliosis	3	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.		240
HP:0002808	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:0002808	HP:0003423	Thoracolumbar kyphoscoliosis	3	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.		39
HP:0002808	HP:0003423	Thoracolumbar kyphoscoliosis	3	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0002808	HP:0003423	Thoracolumbar kyphoscoliosis	3	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	.		6
HP:0002808	HP:0003423	Thoracolumbar kyphoscoliosis	3	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent		166

Genes (449) :ABCC6 ACP5 ACTA1 ACTB AEBP1 AGA AGRN AIFM1 AIMP1 AIMP2 AIP AKT1 ALDH18A1 ALDH3A2 ALG1 ALG9 ALMS1 AMER1 ANKRD11 AP1G1 APC2 ARID1B ARID2 ARSB ARSL ASXL2 ATAD1 ATG7 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATRX AUTS2 B3GALT6 B4GALT7 BAZ1B BCL7B BCOR BGN BICD2 BIN1 BMP1 BRAF BUD23 CANT1 CARS1 CASZ1 CBS CCDC22 CCDC32 CCDC8 CCN6 CDH11 CDKL5 CFL2 CHAT CHRNG CHST14 CHST3 CLCF1 CLIC2 CLIP2 CLP1 COG1 COL12A1 COL13A1 COL1A1 COL1A2 COL2A1 COL6A1 COL6A2 COL6A3 COMP COPB1 CPLX1 CRLF1 CRPPA CSF1R CTBP1 CTDP1 CTSK CUL4B CUL7 CYP27A1 DCC DHCR7 DKK1 DLK1 DLL3 DMD DNA2 DNAJC30 DNMT3A DSE DSTYK DVL1 DVL3 DYM DYRK1A EBP EGR2 EIF4H ELN EMD ERCC1 ERCC2 ERCC3 ERCC6 ERCC8 ERLIN2 EXOC6B EXTL3 EZH2 FA2H FARS2 FBN1 FBN2 FBXO28 FGFR3 FGFRL1 FHL1 FIG4 FKBP10 FKBP14 FKBP6 FKRP FKTN FLNA FLNB FLVCR1 FOXC2 FOXG1 FUCA1 FUT8 GABBR2 GABRD GALNS GBA1 GBA2 GDAP1 GJB1 GLB1 GLE1 GLS GNAS GNPTAB GNPTG GORAB GPR101 GRIA3 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUSB GZF1 H1-4 H4C9 HACD1 HACE1 HDAC4 HERC1 HERC2 HES7 HGD HGSNAT HLA-B HMGB3 HRAS HS2ST1 HSPG2 HTRA1 HTT IDS IDUA IKBKG INPP5K IPO8 IPW ITGA7 JAG1 JPH1 KANSL1 KCNA1 KCNAB2 KCNN3 KIF22 KLC2 KLHL41 KLLN KMT2C KMT2E KRAS KY L1CAM LAMA2 LBR LETM1 LFNG LGI3 LHX3 LIMK1 LMNA LMOD3 LRP5 LUZP1 MADD MAGEL2 MAN2B1 MAP2K1 MAP3K20 MAPK8IP3 MAPT MBTPS1 MBTPS2 MCM3AP MECP2 MED12L MED25 MEG3 MEGF8 MEIS2 MESD MESP2 METTL27 MFN2 MGAT2 MGME1 MKRN3 MKRN3-AS1 MLXIPL MMP14 MMP2 MMP23B MPLKIP MPZ MRPS34 MTTP MVK MYH3 MYL2 MYO1H MYO9A NAA10 NARS1 NCF1 NDRG1 NDUFAF1 NDUFAF4 NDUFS3 NEB NELFA NEMF NEPRO NEU1 NF1 NFIX NKX3-2 NONO NOTCH2 NOTCH3 NPAP1 NPR2 NRAS NSD1 NSD2 NSDHL NTNG1 NUP107 NUP88 NXN OBSL1 OCRL P3H1 P4HB P4HTM PAPSS2 PDE11A PDPN PEX7 PHF6 PHF8 PI4KA PIEZO2 PIGG PIK3C2A PIK3CA PIK3R2 PLAA PLOD1 PLOD2 PMM2 PMP22 PNKP POLD1 POLR3A POMT1 POP1 PPIB PPP1R12A PPP1R15B PRDM13 PRDM16 PRKAR1A PRKCZ PRKG2 PRPS1 PRX PTCH1 PTCH2 PTDSS1 PTEN PTPN11 PUF60 PUS1 PWAR1 PWRN1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RBM28 RECQL4 RERE RET RFC2 RIPPLY2 RMRP RNF113A ROBO3 ROR2 RPS6KA3 RSPRY1 RTL1 RUNX2 RYR1 SBF2 SCARB2 SDHB SDHC SDHD SEC23B SEC24D SELENON SETBP1 SETD2 SETD5 SH2B1 SH3PXD2B SHROOM4 SIL1 SIN3A SKI SLC10A7 SLC16A2 SLC18A3 SLC1A2 SLC25A1 SLC26A2 SLC39A13 SLC52A2 SLC52A3 SLC5A7 SMARCAL1 SMC1A SMS SNAP25 SNORD115-1 SNORD116-1 SNRPB SNX14 SON SOX9 SPART SPEN SPG11 SPRED2 SPTBN1 SRCAP SRD5A3 STAC3 STX1A SUFU SURF1 SVIL SYNE1 SYNE2 SYT2 TAF1 TARS1 TBC1D20 TBL2 TBX2 TBX5 TCF12 TCTN3 TELO2 TFAP2A TGFB1 TGFB3 TLK2 TMEM147 TMEM165 TMEM231 TMEM270 TMEM43 TNFRSF11B TONSL TOR1A TPI1 TPM2 TPM3 TRAPPC2 TRIO TRMT10A TRPV4 TTC5 TTI2 TUBB3 TUBB4A UBA1 UBE4B UBTF UFSP2 UPF3B USF3 USP7 USP8 VAMP1 VPS13B VPS33A VPS37A VPS37D WASHC5 WDR45B WDR81 WIPI2 WNT1 WNT3A XYLT2 YARS2 ZBTB20 ZC4H2 ZMPSTE24 ZNF407

Diseases (486) :OMIM:177850 ORPHA:1855 OMIM:607944 ORPHA:2020 ORPHA:171436 ORPHA:64755 ORPHA:79107 OMIM:607371 ORPHA:536532 OMIM:208400 ORPHA:98914 OMIM:300232 ORPHA:101078 OMIM:260600 OMIM:618006 ORPHA:963 OMIM:219090 ORPHA:201 OMIM:615109 ORPHA:744 OMIM:176920 ORPHA:447760 ORPHA:816 OMIM:270200 ORPHA:79327 OMIM:608776 ORPHA:64 OMIM:203800 OMIM:300373 ORPHA:261250 ORPHA:2332 OMIM:148050 OMIM:619467 ORPHA:821 OMIM:135900 OMIM:617808 OMIM:253200 ORPHA:79345 OMIM:617190 OMIM:618011 OMIM:619422 OMIM:278250 ORPHA:2834 OMIM:617403 OMIM:616455 OMIM:617402 ORPHA:198 OMIM:304150 OMIM:301040 OMIM:309580 ORPHA:352490 OMIM:615834 ORPHA:536467 OMIM:615349 ORPHA:93359 OMIM:271640 ORPHA:75496 ORPHA:904 ORPHA:568 OMIM:309800 OMIM:300106 OMIM:615290 OMIM:618291 OMIM:255200 OMIM:614856 OMIM:163950 OMIM:251450 ORPHA:33364 ORPHA:1606 ORPHA:394 OMIM:236200 ORPHA:7 OMIM:619123 ORPHA:2616 OMIM:208230 ORPHA:1159 ORPHA:1299 ORPHA:3095 ORPHA:505652 OMIM:610687 OMIM:265000 ORPHA:2953 ORPHA:263463 OMIM:143095 ORPHA:1545 OMIM:300886 ORPHA:324410 OMIM:615803 ORPHA:263508 OMIM:616471 ORPHA:75840 ORPHA:536516 OMIM:616470 OMIM:130060 OMIM:259420 OMIM:166220 ORPHA:230851 OMIM:617821 OMIM:609162 ORPHA:85198 OMIM:156550 OMIM:151210 OMIM:183900 ORPHA:94068 OMIM:616583 ORPHA:93316 OMIM:271700 OMIM:108300 OMIM:254090 OMIM:177170 OMIM:619255 OMIM:194190 ORPHA:280 OMIM:272430 ORPHA:370980 OMIM:618476 OMIM:604168 ORPHA:48431 ORPHA:763 OMIM:300354 ORPHA:85293 ORPHA:909 ORPHA:2744 ORPHA:818 ORPHA:85193 ORPHA:96334 ORPHA:2311 OMIM:277300 ORPHA:206546 OMIM:615807 ORPHA:404443 ORPHA:101003 OMIM:616331 OMIM:616894 OMIM:223800 OMIM:607326 ORPHA:268261 ORPHA:464311 OMIM:302960 ORPHA:401973 OMIM:300960 ORPHA:35173 OMIM:145900 OMIM:194050 ORPHA:98863 OMIM:610758 ORPHA:90322 OMIM:610756 OMIM:214150 ORPHA:90324 OMIM:133540 OMIM:216400 OMIM:611225 OMIM:617425 ORPHA:508533 OMIM:277590 ORPHA:171629 ORPHA:466722 OMIM:616914 OMIM:154700 ORPHA:115 OMIM:121050 OMIM:619777 ORPHA:15 OMIM:616482 ORPHA:1860 ORPHA:93274 OMIM:300718 OMIM:300280 OMIM:216340 ORPHA:2771 OMIM:259450 OMIM:610968 OMIM:614557 ORPHA:300179 OMIM:606612 OMIM:607155 OMIM:309350 ORPHA:56305 OMIM:108721 OMIM:150250 ORPHA:88628 OMIM:153400 ORPHA:261144 OMIM:613454 ORPHA:349 OMIM:618005 OMIM:253000 ORPHA:77259 ORPHA:2072 OMIM:614409 OMIM:607831 OMIM:214400 ORPHA:101075 OMIM:230500 OMIM:230600 OMIM:230650 OMIM:253010 OMIM:611890 OMIM:618339 OMIM:219080 OMIM:252500 ORPHA:576 OMIM:252605 OMIM:231070 OMIM:300942 ORPHA:364028 OMIM:617988 OMIM:253220 OMIM:617662 OMIM:617537 OMIM:619951 OMIM:616756 ORPHA:464282 OMIM:619797 OMIM:617011 ORPHA:457359 OMIM:176270 OMIM:203500 OMIM:252930 OMIM:106300 OMIM:300915 OMIM:163200 OMIM:619194 ORPHA:800 OMIM:255800 ORPHA:199354 OMIM:617435 OMIM:309900 OMIM:607014 OMIM:607015 OMIM:308300 OMIM:617404 OMIM:619472 OMIM:619574 ORPHA:363958 OMIM:610443 ORPHA:363965 ORPHA:37612 OMIM:618658 ORPHA:93360 OMIM:609541 OMIM:617768 OMIM:618512 ORPHA:496689 OMIM:617114 OMIM:303350 OMIM:607855 OMIM:618138 OMIM:169400 OMIM:618019 OMIM:609813 OMIM:620007 ORPHA:231720 ORPHA:98853 ORPHA:98855 OMIM:605588 OMIM:259770 OMIM:619005 ORPHA:398069 OMIM:615547 OMIM:248500 OMIM:618443 OMIM:260540 OMIM:618392 ORPHA:2273 OMIM:618124 OMIM:300055 OMIM:312750 ORPHA:3077 OMIM:618872 OMIM:616449 ORPHA:464738 ORPHA:65759 ORPHA:261190 OMIM:618644 OMIM:617087 OMIM:212066 ORPHA:79329 OMIM:615084 ORPHA:352447 OMIM:277950 OMIM:259600 OMIM:118200 ORPHA:3115 OMIM:180800 OMIM:617664 ORPHA:14 OMIM:610377 OMIM:193700 OMIM:619482 OMIM:619092 ORPHA:99950 OMIM:618234 OMIM:618237 OMIM:618230 OMIM:619099 OMIM:618853 ORPHA:812 ORPHA:97685 ORPHA:363700 ORPHA:447980 OMIM:602535 OMIM:613330 ORPHA:466791 OMIM:300967 OMIM:102500 ORPHA:955 OMIM:130720 ORPHA:2789 OMIM:602875 ORPHA:40 OMIM:300831 ORPHA:251383 OMIM:618348 OMIM:618393 ORPHA:1507 OMIM:309000 ORPHA:534 OMIM:610915 ORPHA:2050 OMIM:618493 OMIM:612847 OMIM:610475 OMIM:215100 OMIM:301900 OMIM:300263 OMIM:619708 OMIM:114300 ORPHA:2461 OMIM:248700 ORPHA:557003 OMIM:618440 OMIM:615108 OMIM:603387 OMIM:617527 ORPHA:521426 OMIM:225400 OMIM:212065 ORPHA:79318 ORPHA:101081 OMIM:118220 ORPHA:459033 OMIM:615381 ORPHA:3455 OMIM:617396 OMIM:259440 OMIM:618820 OMIM:616817 ORPHA:391408 OMIM:619909 OMIM:610489 OMIM:619638 ORPHA:99014 OMIM:109400 ORPHA:77301 ORPHA:2658 OMIM:158350 OMIM:151100 ORPHA:508498 ORPHA:2598 ORPHA:2510 OMIM:614222 OMIM:600118 OMIM:612079 ORPHA:157954 OMIM:268400 OMIM:162300 OMIM:616566 OMIM:607095 OMIM:303600 ORPHA:192 OMIM:300844 ORPHA:276630 ORPHA:457395 OMIM:119600 ORPHA:597 OMIM:619542 ORPHA:99956 OMIM:604563 OMIM:616294 ORPHA:798 ORPHA:404440 OMIM:615761 ORPHA:261222 ORPHA:137834 OMIM:249420 ORPHA:85288 OMIM:248800 ORPHA:94065 OMIM:618363 ORPHA:59 OMIM:617105 ORPHA:56304 OMIM:256050 ORPHA:628 OMIM:222600 ORPHA:93307 OMIM:612350 OMIM:614707 OMIM:211530 OMIM:617143 OMIM:242900 OMIM:309583 ORPHA:3063 ORPHA:1393 ORPHA:397709 OMIM:616354 ORPHA:500150 OMIM:617140 OMIM:114290 ORPHA:140 OMIM:275900 OMIM:616668 OMIM:619745 OMIM:619475 ORPHA:2044 OMIM:136140 OMIM:612713 ORPHA:324737 OMIM:255995 OMIM:616684 OMIM:619040 OMIM:618484 ORPHA:88644 OMIM:610743 OMIM:300966 OMIM:618223 ORPHA:392 OMIM:619718 OMIM:614815 ORPHA:488642 OMIM:616954 OMIM:113620 ORPHA:1328 OMIM:615582 OMIM:618050 OMIM:620075 OMIM:614727 ORPHA:2752 OMIM:239000 ORPHA:93357 OMIM:271510 OMIM:618947 OMIM:128100 OMIM:615512 OMIM:609285 ORPHA:93284 OMIM:313400 OMIM:617061 ORPHA:476126 ORPHA:93304 OMIM:113500 OMIM:156530 ORPHA:2635 OMIM:168400 OMIM:181405 OMIM:600175 ORPHA:93314 OMIM:184252 OMIM:619244 OMIM:615541 ORPHA:391307 ORPHA:300570 ORPHA:98805 ORPHA:1145 ORPHA:500180 ORPHA:2114 OMIM:300676 ORPHA:500055 OMIM:618323 ORPHA:193 ORPHA:505248 ORPHA:319199 OMIM:614898 OMIM:617977 OMIM:610185 OMIM:618453 ORPHA:85194 ORPHA:3042 OMIM:259050 ORPHA:3454 OMIM:314580 OMIM:301041 OMIM:275210 OMIM:619557

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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