Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- Quick-Mitome
- Quick-Mitome-Report
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome
- Disease Portal
- HPO Ontology Browser
- Core Symptoms (draft)
- NAMDC-HPO Mapping (retired)
- Expert Panel
- Clinical
- Overview
- Leigh Syndrome Resource
Collaboration
Submission

Hello! Guest! Please Login or Register! Clinician Mode

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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0002808	HP:0002808	Kyphosis	0	ABCC6 CL E G H	368	177850	Pseudoxanthoma elasticum, forme fruste	177850	C1867450	OMIM	1	914	57	603234
HP:0002808	HP:0002808	Kyphosis	0	ABCC6 CL E G H	368	177850	Pseudoxanthoma elasticum, forme fruste	177850	C1867450	OMIM	1	1137	57	603234
HP:0002808	HP:0002808	Kyphosis	0	ACP5 CL E G H	54	1855				ORPHA	1	149	124	171640
HP:0002808	HP:0002808	Kyphosis	0	ACP5 CL E G H	54	1855				ORPHA	1	197	124	171640
HP:0002808	HP:0002808	Kyphosis	0	ACTB CL E G H	60	79107				ORPHA	1	322	132	102630
HP:0002808	HP:0002808	Kyphosis	0	ACTB CL E G H	60	79107				ORPHA	1	349	132	102630
HP:0002808	HP:0002808	Kyphosis	0	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	330	318	613228
HP:0002808	HP:0002808	Kyphosis	0	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	355	318	613228
HP:0002808	HP:0002808	Kyphosis	0	AIFM1 CL E G H	9131	101078				ORPHA	1	413	8768	300169
HP:0002808	HP:0002808	Kyphosis	0	AIFM1 CL E G H	9131	101078				ORPHA	1	450	8768	300169
HP:0002808	HP:0002808	Kyphosis	0	AIP CL E G H	9049	963				ORPHA	1	395	358	605555
HP:0002808	HP:0002808	Kyphosis	0	AIP CL E G H	9049	963				ORPHA	1	487	358	605555
HP:0002808	HP:0002808	Kyphosis	0	AIP CL E G H	9049	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	395	358	605555
HP:0002808	HP:0002808	Kyphosis	0	AIP CL E G H	9049	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	487	358	605555
HP:0002808	HP:0002808	Kyphosis	0	AKT1 CL E G H	207	744	Aortic valves stenosis of the child			ORPHA	1	380	391	164730
HP:0002808	HP:0002808	Kyphosis	0	AKT1 CL E G H	207	744	Aortic valves stenosis of the child			ORPHA	1	417	391	164730
HP:0002808	HP:0002808	Kyphosis	0	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	380	391	164730
HP:0002808	HP:0002808	Kyphosis	0	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	417	391	164730
HP:0002808	HP:0002808	Kyphosis	0	ALDH3A2 CL E G H	224	816				ORPHA	1	437	403	609523
HP:0002808	HP:0002808	Kyphosis	0	ALDH3A2 CL E G H	224	816				ORPHA	1	475	403	609523
HP:0002808	HP:0002808	Kyphosis	0	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	2504	428	606844
HP:0002808	HP:0002808	Kyphosis	0	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	3342	428	606844
HP:0002808	HP:0002808	Kyphosis	0	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	866	18040	614556
HP:0002808	HP:0002808	Kyphosis	0	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	958	18040	614556
HP:0002808	HP:0002808	Kyphosis	0	ASAH1 CL E G H	427	333				ORPHA	1	420	735	613468
HP:0002808	HP:0002808	Kyphosis	0	ASAH1 CL E G H	427	333				ORPHA	1	593	735	613468
HP:0002808	HP:0002808	Kyphosis	0	ASXL2 CL E G H	55252	617190	Shashi-Pena syndrome	617190	C4310672	OMIM	1	111	23805	612991
HP:0002808	HP:0002808	Kyphosis	0	ASXL2 CL E G H	55252	617190	Shashi-Pena syndrome	617190	C4310672	OMIM	1	170	23805	612991
HP:0002808	HP:0002808	Kyphosis	0	ATP6V0A2 CL E G H	23545	278250	Wrinkly skin syndrome	278250	C0406587	OMIM	1	417	18481	611716
HP:0002808	HP:0002808	Kyphosis	0	ATP6V0A2 CL E G H	23545	278250	Wrinkly skin syndrome	278250	C0406587	OMIM	1	458	18481	611716
HP:0002808	HP:0002808	Kyphosis	0	ATP7A CL E G H	538	304150	Cutis laxa, X-linked	304150	C0268353	OMIM	1	897	869	300011
HP:0002808	HP:0002808	Kyphosis	0	ATP7A CL E G H	538	304150	Cutis laxa, X-linked	304150	C0268353	OMIM	1	1003	869	300011
HP:0002808	HP:0002808	Kyphosis	0	AUTS2 CL E G H	26053	615834	Mental retardation, autosomal dominant 26	615834	C4014435	OMIM	1	439	14262	607270
HP:0002808	HP:0002808	Kyphosis	0	AUTS2 CL E G H	26053	615834	Mental retardation, autosomal dominant 26	615834	C4014435	OMIM	1	454	14262	607270
HP:0002808	HP:0002808	Kyphosis	0	B3GALT6 CL E G H	126792	93359				ORPHA	1	281	17978	615291
HP:0002808	HP:0002808	Kyphosis	0	B3GALT6 CL E G H	126792	93359				ORPHA	1	337	17978	615291
HP:0002808	HP:0002808	Kyphosis	0	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	191	961	605681
HP:0002808	HP:0002808	Kyphosis	0	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	192	961	605681
HP:0002808	HP:0002808	Kyphosis	0	BGN CL E G H	633	300106	Spondyloepimetaphyseal dysplasia X-linked	300106	C1848097	OMIM	1	284	1044	301870
HP:0002808	HP:0002808	Kyphosis	0	BGN CL E G H	633	300106	Spondyloepimetaphyseal dysplasia X-linked	300106	C1848097	OMIM	1	334	1044	301870
HP:0002808	HP:0002808	Kyphosis	0	BICD2 CL E G H	23299	618291	618291	618291		OMIM	1	445	17208	609797
HP:0002808	HP:0002808	Kyphosis	0	BICD2 CL E G H	23299	618291	618291	618291		OMIM	1	506	17208	609797
HP:0002808	HP:0002808	Kyphosis	0	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	431	1052	601248
HP:0002808	HP:0002808	Kyphosis	0	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	487	1052	601248
HP:0002808	HP:0002808	Kyphosis	0	CANT1 CL E G H	124583	251450	Desbuquois dysplasia 1	251450	C4012146	OMIM	1	185	19721	613165
HP:0002808	HP:0002808	Kyphosis	0	CANT1 CL E G H	124583	251450	Desbuquois dysplasia 1	251450	C4012146	OMIM	1	218	19721	613165
HP:0002808	HP:0002808	Kyphosis	0	CBS CL E G H	875	394				ORPHA	1	792	1550	613381
HP:0002808	HP:0002808	Kyphosis	0	CBS CL E G H	875	394				ORPHA	1	856	1550	613381
HP:0002808	HP:0002808	Kyphosis	0	CCDC22 CL E G H	28952	7	Typical Joubert syndrome MRI findings		CN228298	ORPHA	1	242	28909	300859
HP:0002808	HP:0002808	Kyphosis	0	CCDC22 CL E G H	28952	7	Typical Joubert syndrome MRI findings		CN228298	ORPHA	1	250	28909	300859
HP:0002808	HP:0002808	Kyphosis	0	CCN6 CL E G H	8838	1159				ORPHA	1	86	12771	603400
HP:0002808	HP:0002808	Kyphosis	0	CCN6 CL E G H	8838	1159				ORPHA	1	87	12771	603400
HP:0002808	HP:0002808	Kyphosis	0	CHRNG CL E G H	1146	265000	Multiple pterygium syndrome Escobar type	265000	C0265261	OMIM	1	206	1967	100730
HP:0002808	HP:0002808	Kyphosis	0	CHRNG CL E G H	1146	265000	Multiple pterygium syndrome Escobar type	265000	C0265261	OMIM	1	212	1967	100730
HP:0002808	HP:0002808	Kyphosis	0	CLCF1 CL E G H	23529	1545	Corsello Opitz syndrome			ORPHA	1	28	17412	607672
HP:0002808	HP:0002808	Kyphosis	0	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	176	2586	603432
HP:0002808	HP:0002808	Kyphosis	0	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	177	2586	603432
HP:0002808	HP:0002808	Kyphosis	0	COL11A2 CL E G H	1302	1427				ORPHA	1	705	2187	120290
HP:0002808	HP:0002808	Kyphosis	0	COL11A2 CL E G H	1302	1427				ORPHA	1	974	2187	120290
HP:0002808	HP:0002808	Kyphosis	0	COL12A1 CL E G H	1303	75840				ORPHA	1	1367	2188	120320
HP:0002808	HP:0002808	Kyphosis	0	COL12A1 CL E G H	1303	75840				ORPHA	1	1678	2188	120320
HP:0002808	HP:0002808	Kyphosis	0	COL12A1 CL E G H	1303	616471	Bethlem myopathy 2	616471	C4225313	OMIM	1	1367	2188	120320
HP:0002808	HP:0002808	Kyphosis	0	COL12A1 CL E G H	1303	616471	Bethlem myopathy 2	616471	C4225313	OMIM	1	1678	2188	120320
HP:0002808	HP:0002808	Kyphosis	0	COL1A1 CL E G H	1277	130060	Ehlers-Danlos syndrome, procollagen proteinase deficient	130060	C0268345	OMIM	1	1397	2197	120150
HP:0002808	HP:0002808	Kyphosis	0	COL1A1 CL E G H	1277	130060	Ehlers-Danlos syndrome, procollagen proteinase deficient	130060	C0268345	OMIM	1	1655	2197	120150
HP:0002808	HP:0002808	Kyphosis	0	COL1A1 CL E G H	1277	259420	Osteogenesis imperfecta type III	259420	C0268362	OMIM	1	1397	2197	120150
HP:0002808	HP:0002808	Kyphosis	0	COL1A1 CL E G H	1277	259420	Osteogenesis imperfecta type III	259420	C0268362	OMIM	1	1655	2197	120150
HP:0002808	HP:0002808	Kyphosis	0	COL1A1 CL E G H	1277	166220	Osteogenesis imperfecta with normal sclerae, dominant form	166220	C0268363	OMIM	1	1397	2197	120150
HP:0002808	HP:0002808	Kyphosis	0	COL1A1 CL E G H	1277	166220	Osteogenesis imperfecta with normal sclerae, dominant form	166220	C0268363	OMIM	1	1655	2197	120150
HP:0002808	HP:0002808	Kyphosis	0	COL1A2 CL E G H	1278	617821	EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2	617821	CN706304	OMIM	1	1042	2198	120160
HP:0002808	HP:0002808	Kyphosis	0	COL1A2 CL E G H	1278	617821	EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2	617821	CN706304	OMIM	1	1203	2198	120160
HP:0002808	HP:0002808	Kyphosis	0	COL1A2 CL E G H	1278	259420	Osteogenesis imperfecta type III	259420	C0268362	OMIM	1	1042	2198	120160
HP:0002808	HP:0002808	Kyphosis	0	COL1A2 CL E G H	1278	259420	Osteogenesis imperfecta type III	259420	C0268362	OMIM	1	1203	2198	120160
HP:0002808	HP:0002808	Kyphosis	0	COL1A2 CL E G H	1278	166220	Osteogenesis imperfecta with normal sclerae, dominant form	166220	C0268363	OMIM	1	1042	2198	120160
HP:0002808	HP:0002808	Kyphosis	0	COL1A2 CL E G H	1278	166220	Osteogenesis imperfecta with normal sclerae, dominant form	166220	C0268363	OMIM	1	1203	2198	120160
HP:0002808	HP:0002808	Kyphosis	0	COL2A1 CL E G H	1280	485				ORPHA	1	1213	2200	120140
HP:0002808	HP:0002808	Kyphosis	0	COL2A1 CL E G H	1280	485				ORPHA	1	1540	2200	120140
HP:0002808	HP:0002808	Kyphosis	0	COL2A1 CL E G H	1280	93346				ORPHA	1	1213	2200	120140
HP:0002808	HP:0002808	Kyphosis	0	COL2A1 CL E G H	1280	93346				ORPHA	1	1540	2200	120140
HP:0002808	HP:0002808	Kyphosis	0	COL2A1 CL E G H	1280	183900	Spondyloepiphyseal dysplasia	183900	C0038015	OMIM	1	1213	2200	120140
HP:0002808	HP:0002808	Kyphosis	0	COL2A1 CL E G H	1280	183900	Spondyloepiphyseal dysplasia	183900	C0038015	OMIM	1	1540	2200	120140
HP:0002808	HP:0002808	Kyphosis	0	COL2A1 CL E G H	1280	271700	Spondyloperipheral dysplasia	271700	C0796173	OMIM	1	1213	2200	120140
HP:0002808	HP:0002808	Kyphosis	0	COL2A1 CL E G H	1280	271700	Spondyloperipheral dysplasia	271700	C0796173	OMIM	1	1540	2200	120140
HP:0002808	HP:0002808	Kyphosis	0	COL2A1 CL E G H	1280	108300	Stickler syndrome type 1	108300	C2020284	OMIM	1	1213	2200	120140
HP:0002808	HP:0002808	Kyphosis	0	COL2A1 CL E G H	1280	108300	Stickler syndrome type 1	108300	C2020284	OMIM	1	1540	2200	120140
HP:0002808	HP:0002808	Kyphosis	0	COL6A1 CL E G H	1291	75840				ORPHA	1	1219	2211	120220
HP:0002808	HP:0002808	Kyphosis	0	COL6A1 CL E G H	1291	75840				ORPHA	1	1342	2211	120220
HP:0002808	HP:0002808	Kyphosis	0	COL6A1 CL E G H	1291	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1219	2211	120220
HP:0002808	HP:0002808	Kyphosis	0	COL6A1 CL E G H	1291	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1342	2211	120220
HP:0002808	HP:0002808	Kyphosis	0	COL6A2 CL E G H	1292	75840				ORPHA	1	1370	2212	120240
HP:0002808	HP:0002808	Kyphosis	0	COL6A2 CL E G H	1292	75840				ORPHA	1	1512	2212	120240
HP:0002808	HP:0002808	Kyphosis	0	COL6A2 CL E G H	1292	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1370	2212	120240
HP:0002808	HP:0002808	Kyphosis	0	COL6A2 CL E G H	1292	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1512	2212	120240
HP:0002808	HP:0002808	Kyphosis	0	COL6A3 CL E G H	1293	75840				ORPHA	1	1971	2213	120250
HP:0002808	HP:0002808	Kyphosis	0	COL6A3 CL E G H	1293	75840				ORPHA	1	2233	2213	120250
HP:0002808	HP:0002808	Kyphosis	0	COL6A3 CL E G H	1293	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1971	2213	120250
HP:0002808	HP:0002808	Kyphosis	0	COL6A3 CL E G H	1293	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	2233	2213	120250
HP:0002808	HP:0002808	Kyphosis	0	COMP CL E G H	1311	177170	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	177170	C0410538	OMIM	1	287	2227	600310
HP:0002808	HP:0002808	Kyphosis	0	COMP CL E G H	1311	177170	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	177170	C0410538	OMIM	1	375	2227	600310
HP:0002808	HP:0002808	Kyphosis	0	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	151	2309	605032
HP:0002808	HP:0002808	Kyphosis	0	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	163	2309	605032
HP:0002808	HP:0002808	Kyphosis	0	CRLF1 CL E G H	9244	1545	Corsello Opitz syndrome			ORPHA	1	71	2364	604237
HP:0002808	HP:0002808	Kyphosis	0	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	174	2494	602618
HP:0002808	HP:0002808	Kyphosis	0	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	187	2494	602618
HP:0002808	HP:0002808	Kyphosis	0	CUL4B CL E G H	8450	300354	Syndromic X-linked mental retardation, Cabezas type	300354	C1845861	OMIM	1	310	2555	300304
HP:0002808	HP:0002808	Kyphosis	0	CUL4B CL E G H	8450	300354	Syndromic X-linked mental retardation, Cabezas type	300354	C1845861	OMIM	1	322	2555	300304
HP:0002808	HP:0002808	Kyphosis	0	DLL3 CL E G H	10683	2311	Autosomal recessive spondylocostal dysostosis		CN043670	ORPHA	1	185	2909	602768
HP:0002808	HP:0002808	Kyphosis	0	DLL3 CL E G H	10683	2311	Autosomal recessive spondylocostal dysostosis		CN043670	ORPHA	1	228	2909	602768
HP:0002808	HP:0002808	Kyphosis	0	DYM CL E G H	54808	239				ORPHA	1	191	21317	607461
HP:0002808	HP:0002808	Kyphosis	0	DYM CL E G H	54808	239				ORPHA	1	229	21317	607461
HP:0002808	HP:0002808	Kyphosis	0	DYM CL E G H	54808	607326	Smith-McCort dysplasia 1	607326	C1846431	OMIM	1	191	21317	607461
HP:0002808	HP:0002808	Kyphosis	0	DYM CL E G H	54808	607326	Smith-McCort dysplasia 1	607326	C1846431	OMIM	1	229	21317	607461
HP:0002808	HP:0002808	Kyphosis	0	EBP CL E G H	10682	35173				ORPHA	1	265	3133	300205
HP:0002808	HP:0002808	Kyphosis	0	EBP CL E G H	10682	35173				ORPHA	1	286	3133	300205
HP:0002808	HP:0002808	Kyphosis	0	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	657	3327	130160
HP:0002808	HP:0002808	Kyphosis	0	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	704	3327	130160
HP:0002808	HP:0002808	Kyphosis	0	ERCC6 CL E G H	2074	133540	Cockayne syndrome B	133540	C0751038	OMIM	1	825	3438	609413
HP:0002808	HP:0002808	Kyphosis	0	ERCC6 CL E G H	2074	133540	Cockayne syndrome B	133540	C0751038	OMIM	1	946	3438	609413
HP:0002808	HP:0002808	Kyphosis	0	ERCC8 CL E G H	1161	216400	Cockayne syndrome type A	216400	C0751039	OMIM	1	310	3439	609412
HP:0002808	HP:0002808	Kyphosis	0	ERCC8 CL E G H	1161	216400	Cockayne syndrome type A	216400	C0751039	OMIM	1	343	3439	609412
HP:0002808	HP:0002808	Kyphosis	0	ERLIN2 CL E G H	11160	209951				ORPHA	1	138	1356	611605
HP:0002808	HP:0002808	Kyphosis	0	ERLIN2 CL E G H	11160	209951				ORPHA	1	147	1356	611605
HP:0002808	HP:0002808	Kyphosis	0	ERLIN2 CL E G H	11160	611225	Spastic paraplegia 18	611225	C2749936	OMIM	1	138	1356	611605
HP:0002808	HP:0002808	Kyphosis	0	ERLIN2 CL E G H	11160	611225	Spastic paraplegia 18	611225	C2749936	OMIM	1	147	1356	611605
HP:0002808	HP:0002808	Kyphosis	0	EZH2 CL E G H	2146	277590	Weaver syndrome	277590	C0265210	OMIM	1	329	3527	601573
HP:0002808	HP:0002808	Kyphosis	0	EZH2 CL E G H	2146	277590	Weaver syndrome	277590	C0265210	OMIM	1	364	3527	601573
HP:0002808	HP:0002808	Kyphosis	0	FGFR3 CL E G H	2261	1860				ORPHA	1	541	3690	134934
HP:0002808	HP:0002808	Kyphosis	0	FGFR3 CL E G H	2261	1860				ORPHA	1	542	3690	134934
HP:0002808	HP:0002808	Kyphosis	0	FGFR3 CL E G H	2261	93274				ORPHA	1	541	3690	134934
HP:0002808	HP:0002808	Kyphosis	0	FGFR3 CL E G H	2261	93274				ORPHA	1	542	3690	134934
HP:0002808	HP:0002808	Kyphosis	0	FGFR3 CL E G H	2261	15	Antisocial personality disorder			ORPHA	1	541	3690	134934
HP:0002808	HP:0002808	Kyphosis	0	FGFR3 CL E G H	2261	15	Antisocial personality disorder			ORPHA	1	542	3690	134934
HP:0002808	HP:0002808	Kyphosis	0	FGFR3 CL E G H	2261	616482	Severe achondroplasia with developmental delay and acanthosis nigricans	616482	C2674173	OMIM	1	541	3690	134934
HP:0002808	HP:0002808	Kyphosis	0	FGFR3 CL E G H	2261	616482	Severe achondroplasia with developmental delay and acanthosis nigricans	616482	C2674173	OMIM	1	542	3690	134934
HP:0002808	HP:0002808	Kyphosis	0	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	214	3693	605830
HP:0002808	HP:0002808	Kyphosis	0	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	267	3693	605830
HP:0002808	HP:0002808	Kyphosis	0	FHL1 CL E G H	2273	300718	Myopathy, reducing body, X-linked, childhood-onset	300718	C2678015	OMIM	1	437	3702	300163
HP:0002808	HP:0002808	Kyphosis	0	FHL1 CL E G H	2273	300718	Myopathy, reducing body, X-linked, childhood-onset	300718	C2678015	OMIM	1	486	3702	300163
HP:0002808	HP:0002808	Kyphosis	0	FHL1 CL E G H	2273	300280	Uruguay faciocardiomusculoskeletal syndrome	300280	C1846010	OMIM	1	437	3702	300163
HP:0002808	HP:0002808	Kyphosis	0	FHL1 CL E G H	2273	300280	Uruguay faciocardiomusculoskeletal syndrome	300280	C1846010	OMIM	1	486	3702	300163
HP:0002808	HP:0002808	Kyphosis	0	FKBP10 CL E G H	60681	259450	Bruck syndrome 1	259450	C1850168	OMIM	1	192	18169	607063
HP:0002808	HP:0002808	Kyphosis	0	FKBP10 CL E G H	60681	259450	Bruck syndrome 1	259450	C1850168	OMIM	1	241	18169	607063
HP:0002808	HP:0002808	Kyphosis	0	FKBP10 CL E G H	60681	2771	Hydrocephalus costovertebral dysplasia Sprengel anomaly			ORPHA	1	192	18169	607063
HP:0002808	HP:0002808	Kyphosis	0	FKBP10 CL E G H	60681	2771	Hydrocephalus costovertebral dysplasia Sprengel anomaly			ORPHA	1	241	18169	607063
HP:0002808	HP:0002808	Kyphosis	0	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	572	17997	606596
HP:0002808	HP:0002808	Kyphosis	0	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	671	17997	606596
HP:0002808	HP:0002808	Kyphosis	0	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	572	17997	606596
HP:0002808	HP:0002808	Kyphosis	0	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	671	17997	606596
HP:0002808	HP:0002808	Kyphosis	0	FOXG1 CL E G H	2290	261144				ORPHA	1	491	3811	164874
HP:0002808	HP:0002808	Kyphosis	0	FOXG1 CL E G H	2290	261144				ORPHA	1	534	3811	164874
HP:0002808	HP:0002808	Kyphosis	0	FOXG1 CL E G H	2290	613454	Rett syndrome, congenital variant	613454	C3150705	OMIM	1	491	3811	164874
HP:0002808	HP:0002808	Kyphosis	0	FOXG1 CL E G H	2290	613454	Rett syndrome, congenital variant	613454	C3150705	OMIM	1	534	3811	164874
HP:0002808	HP:0002808	Kyphosis	0	FUCA1 CL E G H	2517	349	Neuroaxonal dystrophy renal tubular acidosis			ORPHA	1	137	4006	612280
HP:0002808	HP:0002808	Kyphosis	0	FUCA1 CL E G H	2517	349	Neuroaxonal dystrophy renal tubular acidosis			ORPHA	1	188	4006	612280
HP:0002808	HP:0002808	Kyphosis	0	GALNS CL E G H	2588	253000	Mucopolysaccharidosis, MPS-IV-A	253000	C0086651	OMIM	1	817	4122	612222
HP:0002808	HP:0002808	Kyphosis	0	GALNS CL E G H	2588	253000	Mucopolysaccharidosis, MPS-IV-A	253000	C0086651	OMIM	1	877	4122	612222
HP:0002808	HP:0002808	Kyphosis	0	GBA CL E G H	2629	77259				ORPHA	1	261	4177	606463
HP:0002808	HP:0002808	Kyphosis	0	GBA CL E G H	2629	77259				ORPHA	1	269	4177	606463
HP:0002808	HP:0002808	Kyphosis	0	GLB1 CL E G H	2720	230650	Gangliosidosis GM1 type 3	230650	C0268273	OMIM	1	507	4298	611458
HP:0002808	HP:0002808	Kyphosis	0	GLB1 CL E G H	2720	230650	Gangliosidosis GM1 type 3	230650	C0268273	OMIM	1	596	4298	611458
HP:0002808	HP:0002808	Kyphosis	0	GLB1 CL E G H	2720	230500	Infantile GM1 gangliosidosis	230500	C0268271	OMIM	1	507	4298	611458
HP:0002808	HP:0002808	Kyphosis	0	GLB1 CL E G H	2720	230500	Infantile GM1 gangliosidosis	230500	C0268271	OMIM	1	596	4298	611458
HP:0002808	HP:0002808	Kyphosis	0	GLB1 CL E G H	2720	253010	Mucopolysaccharidosis, MPS-IV-B	253010	C0086652	OMIM	1	507	4298	611458
HP:0002808	HP:0002808	Kyphosis	0	GLB1 CL E G H	2720	253010	Mucopolysaccharidosis, MPS-IV-B	253010	C0086652	OMIM	1	596	4298	611458
HP:0002808	HP:0002808	Kyphosis	0	GNAS CL E G H	2778	219080	Cushing's syndrome	219080	C1857451	OMIM	1	333	4392	139320
HP:0002808	HP:0002808	Kyphosis	0	GNAS CL E G H	2778	219080	Cushing's syndrome	219080	C1857451	OMIM	1	371	4392	139320
HP:0002808	HP:0002808	Kyphosis	0	GNPTG CL E G H	84572	252605	Mucolipidosis III Gamma	252605	C1854896	OMIM	1	438	23026	607838
HP:0002808	HP:0002808	Kyphosis	0	GNPTG CL E G H	84572	252605	Mucolipidosis III Gamma	252605	C1854896	OMIM	1	506	23026	607838
HP:0002808	HP:0002808	Kyphosis	0	GPR101 CL E G H	83550	963				ORPHA	1	196	14963	300393
HP:0002808	HP:0002808	Kyphosis	0	GPR101 CL E G H	83550	963				ORPHA	1	200	14963	300393
HP:0002808	HP:0002808	Kyphosis	0	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	159	4659	601679
HP:0002808	HP:0002808	Kyphosis	0	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	160	4659	601679
HP:0002808	HP:0002808	Kyphosis	0	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	211	4661	604318
HP:0002808	HP:0002808	Kyphosis	0	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	213	4661	604318
HP:0002808	HP:0002808	Kyphosis	0	GTPBP2 CL E G H	54676	617988	JABERI-ELAHI SYNDROME	617988	CN244943	OMIM	1	34	4670	607434
HP:0002808	HP:0002808	Kyphosis	0	GTPBP2 CL E G H	54676	617988	JABERI-ELAHI SYNDROME	617988	CN244943	OMIM	1	50	4670	607434
HP:0002808	HP:0002808	Kyphosis	0	HACE1 CL E G H	57531	464282				ORPHA	1	76	21033	610876
HP:0002808	HP:0002808	Kyphosis	0	HACE1 CL E G H	57531	464282				ORPHA	1	91	21033	610876
HP:0002808	HP:0002808	Kyphosis	0	HERC1 CL E G H	8925	617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	617011	C4310766	OMIM	1	506	4867	605109
HP:0002808	HP:0002808	Kyphosis	0	HERC1 CL E G H	8925	617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	617011	C4310766	OMIM	1	545	4867	605109
HP:0002808	HP:0002808	Kyphosis	0	HERC2 CL E G H	8924	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	602	4868	605837
HP:0002808	HP:0002808	Kyphosis	0	HERC2 CL E G H	8924	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	622	4868	605837
HP:0002808	HP:0002808	Kyphosis	0	HES7 CL E G H	84667	2311	Autosomal recessive spondylocostal dysostosis		CN043670	ORPHA	1	56	15977	608059
HP:0002808	HP:0002808	Kyphosis	0	HES7 CL E G H	84667	2311	Autosomal recessive spondylocostal dysostosis		CN043670	ORPHA	1	78	15977	608059
HP:0002808	HP:0002808	Kyphosis	0	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	209	4892	607474
HP:0002808	HP:0002808	Kyphosis	0	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	231	4892	607474
HP:0002808	HP:0002808	Kyphosis	0	HSPG2 CL E G H	3339	800				ORPHA	1	1327	5273	142461
HP:0002808	HP:0002808	Kyphosis	0	HSPG2 CL E G H	3339	800				ORPHA	1	1600	5273	142461
HP:0002808	HP:0002808	Kyphosis	0	HTT CL E G H	3064	617435	Lopes-Maciel-Rodan syndrome	617435	C4479491	OMIM	1	145	4851	613004
HP:0002808	HP:0002808	Kyphosis	0	HTT CL E G H	3064	617435	Lopes-Maciel-Rodan syndrome	617435	C4479491	OMIM	1	393	4851	613004
HP:0002808	HP:0002808	Kyphosis	0	IDS CL E G H	3423	309900	Mucopolysaccharidosis, MPS-II	309900	C0026705	OMIM	1	645	5389	300823
HP:0002808	HP:0002808	Kyphosis	0	IDS CL E G H	3423	309900	Mucopolysaccharidosis, MPS-II	309900	C0026705	OMIM	1	682	5389	300823
HP:0002808	HP:0002808	Kyphosis	0	IDUA CL E G H	3425	607014	Dysostosis multiplex	607014	C0086795	OMIM	1	971	5391	252800
HP:0002808	HP:0002808	Kyphosis	0	IDUA CL E G H	3425	607014	Dysostosis multiplex	607014	C0086795	OMIM	1	1114	5391	252800
HP:0002808	HP:0002808	Kyphosis	0	IDUA CL E G H	3425	607015	Mucopolysaccharidosis, MPS-I-H/S	607015	C0086431	OMIM	1	971	5391	252800
HP:0002808	HP:0002808	Kyphosis	0	IDUA CL E G H	3425	607015	Mucopolysaccharidosis, MPS-I-H/S	607015	C0086431	OMIM	1	1114	5391	252800
HP:0002808	HP:0002808	Kyphosis	0	IPW CL E G H	3653	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	317	6109	601491
HP:0002808	HP:0002808	Kyphosis	0	IPW CL E G H	3653	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	318	6109	601491
HP:0002808	HP:0002808	Kyphosis	0	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	1	1047	24565	612452
HP:0002808	HP:0002808	Kyphosis	0	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	1	1143	24565	612452
HP:0002808	HP:0002808	Kyphosis	0	KIF22 CL E G H	3835	93360				ORPHA	1	319	6391	603213
HP:0002808	HP:0002808	Kyphosis	0	KIF22 CL E G H	3835	93360				ORPHA	1	368	6391	603213
HP:0002808	HP:0002808	Kyphosis	0	KLC2 CL E G H	64837	609541	Spastic paraplegia, optic atrophy, and neuropathy	609541	C1836010	OMIM	1	31	20716	611729
HP:0002808	HP:0002808	Kyphosis	0	KLC2 CL E G H	64837	609541	Spastic paraplegia, optic atrophy, and neuropathy	609541	C1836010	OMIM	1	45	20716	611729
HP:0002808	HP:0002808	Kyphosis	0	KMT2C CL E G H	58508	617768	KLEEFSTRA SYNDROME 2	617768	C4540395	OMIM	1	422	13726	606833
HP:0002808	HP:0002808	Kyphosis	0	KMT2C CL E G H	58508	617768	KLEEFSTRA SYNDROME 2	617768	C4540395	OMIM	1	564	13726	606833
HP:0002808	HP:0002808	Kyphosis	0	KY CL E G H	339855	617114	Myopathy, myofibrillar, 7	617114	C4310711	OMIM	1	78	26576	605739
HP:0002808	HP:0002808	Kyphosis	0	KY CL E G H	339855	617114	Myopathy, myofibrillar, 7	617114	C4310711	OMIM	1	79	26576	605739
HP:0002808	HP:0002808	Kyphosis	0	L1CAM CL E G H	3897	303350	Spastic paraplegia 1	303350	C0795953	OMIM	1	645	6470	308840
HP:0002808	HP:0002808	Kyphosis	0	L1CAM CL E G H	3897	303350	Spastic paraplegia 1	303350	C0795953	OMIM	1	695	6470	308840
HP:0002808	HP:0002808	Kyphosis	0	LAS1L CL E G H	81887	309585	Wilson-Turner X-linked mental retardation syndrome	309585	C1839736	OMIM	1	211	25726	300964
HP:0002808	HP:0002808	Kyphosis	0	LAS1L CL E G H	81887	309585	Wilson-Turner X-linked mental retardation syndrome	309585	C1839736	OMIM	1	220	25726	300964
HP:0002808	HP:0002808	Kyphosis	0	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	188	6556	604407
HP:0002808	HP:0002808	Kyphosis	0	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	228	6556	604407
HP:0002808	HP:0002808	Kyphosis	0	LETM1 CL E G H	3954	280	Halal Setton Wang syndrome			ORPHA	1	188	6556	604407
HP:0002808	HP:0002808	Kyphosis	0	LETM1 CL E G H	3954	280	Halal Setton Wang syndrome			ORPHA	1	228	6556	604407
HP:0002808	HP:0002808	Kyphosis	0	LFNG CL E G H	3955	2311	Autosomal recessive spondylocostal dysostosis		CN043670	ORPHA	1	156	6560	602576
HP:0002808	HP:0002808	Kyphosis	0	LFNG CL E G H	3955	2311	Autosomal recessive spondylocostal dysostosis		CN043670	ORPHA	1	191	6560	602576
HP:0002808	HP:0002808	Kyphosis	0	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	196	6613	601329
HP:0002808	HP:0002808	Kyphosis	0	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	197	6613	601329
HP:0002808	HP:0002808	Kyphosis	0	LMNA CL E G H	4000	740	Aortic arch interruption			ORPHA	1	1347	6636	150330
HP:0002808	HP:0002808	Kyphosis	0	LMNA CL E G H	4000	740	Aortic arch interruption			ORPHA	1	1486	6636	150330
HP:0002808	HP:0002808	Kyphosis	0	MAGEL2 CL E G H	54551	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	557	6814	605283
HP:0002808	HP:0002808	Kyphosis	0	MAGEL2 CL E G H	54551	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	580	6814	605283
HP:0002808	HP:0002808	Kyphosis	0	MAGEL2 CL E G H	54551	615547	Schaaf-yang syndrome	615547	C3809877	OMIM	1	557	6814	605283
HP:0002808	HP:0002808	Kyphosis	0	MAGEL2 CL E G H	54551	615547	Schaaf-yang syndrome	615547	C3809877	OMIM	1	580	6814	605283
HP:0002808	HP:0002808	Kyphosis	0	MECP2 CL E G H	4204	312750	Rett syndrome	312750	C0035372	OMIM	1	1603	6990	300005
HP:0002808	HP:0002808	Kyphosis	0	MECP2 CL E G H	4204	312750	Rett syndrome	312750	C0035372	OMIM	1	1684	6990	300005
HP:0002808	HP:0002808	Kyphosis	0	MESP2 CL E G H	145873	2311	Autosomal recessive spondylocostal dysostosis		CN043670	ORPHA	1	257	29659	605195
HP:0002808	HP:0002808	Kyphosis	0	MESP2 CL E G H	145873	2311	Autosomal recessive spondylocostal dysostosis		CN043670	ORPHA	1	285	29659	605195
HP:0002808	HP:0002808	Kyphosis	0	MFN2 CL E G H	9927	617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	617087	C4310725	OMIM	1	824	16877	608507
HP:0002808	HP:0002808	Kyphosis	0	MFN2 CL E G H	9927	617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	617087	C4310725	OMIM	1	944	16877	608507
HP:0002808	HP:0002808	Kyphosis	0	MGME1 CL E G H	92667	352447				ORPHA	1	69	16205	615076
HP:0002808	HP:0002808	Kyphosis	0	MGME1 CL E G H	92667	352447				ORPHA	1	75	16205	615076
HP:0002808	HP:0002808	Kyphosis	0	MGME1 CL E G H	92667	615084	Mitochondrial DNA depletion syndrome 11	615084	C3554462	OMIM	1	69	16205	615076
HP:0002808	HP:0002808	Kyphosis	0	MGME1 CL E G H	92667	615084	Mitochondrial DNA depletion syndrome 11	615084	C3554462	OMIM	1	75	16205	615076
HP:0002808	HP:0002808	Kyphosis	0	MKRN3 CL E G H	7681	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	341	7114	603856
HP:0002808	HP:0002808	Kyphosis	0	MKRN3 CL E G H	7681	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	344	7114	603856
HP:0002808	HP:0002808	Kyphosis	0	MKRN3-AS1 CL E G H	10108	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1		12910	603857
HP:0002808	HP:0002808	Kyphosis	0	NDN CL E G H	4692	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	321	7675	602117
HP:0002808	HP:0002808	Kyphosis	0	NDN CL E G H	4692	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	326	7675	602117
HP:0002808	HP:0002808	Kyphosis	0	NDUFAF1 CL E G H	51103	618234	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11	618234		OMIM	1	91	18828	606934
HP:0002808	HP:0002808	Kyphosis	0	NDUFAF1 CL E G H	51103	618234	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11	618234		OMIM	1	102	18828	606934
HP:0002808	HP:0002808	Kyphosis	0	NELFA CL E G H	7469	280	Halal Setton Wang syndrome			ORPHA	1	171	12768	606026
HP:0002808	HP:0002808	Kyphosis	0	NELFA CL E G H	7469	280	Halal Setton Wang syndrome			ORPHA	1	175	12768	606026
HP:0002808	HP:0002808	Kyphosis	0	NONO CL E G H	4841	300967	Mental retardation, X-linked, syndromic 34	300967	C4225417	OMIM	1	188	7871	300084
HP:0002808	HP:0002808	Kyphosis	0	NONO CL E G H	4841	300967	Mental retardation, X-linked, syndromic 34	300967	C4225417	OMIM	1	193	7871	300084
HP:0002808	HP:0002808	Kyphosis	0	NOTCH3 CL E G H	4854	130720	Lehman syndrome	130720	C1851710	OMIM	1	860	7883	600276
HP:0002808	HP:0002808	Kyphosis	0	NOTCH3 CL E G H	4854	130720	Lehman syndrome	130720	C1851710	OMIM	1	946	7883	600276
HP:0002808	HP:0002808	Kyphosis	0	NPAP1 CL E G H	23742	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	349	1190	610922
HP:0002808	HP:0002808	Kyphosis	0	NPAP1 CL E G H	23742	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	351	1190	610922
HP:0002808	HP:0002808	Kyphosis	0	NPR2 CL E G H	4882	40				ORPHA	1	285	7944	108961
HP:0002808	HP:0002808	Kyphosis	0	NPR2 CL E G H	4882	40				ORPHA	1	344	7944	108961
HP:0002808	HP:0002808	Kyphosis	0	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	249	12766	602952
HP:0002808	HP:0002808	Kyphosis	0	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	262	12766	602952
HP:0002808	HP:0002808	Kyphosis	0	NSD2 CL E G H	7468	280	Halal Setton Wang syndrome			ORPHA	1	249	12766	602952
HP:0002808	HP:0002808	Kyphosis	0	NSD2 CL E G H	7468	280	Halal Setton Wang syndrome			ORPHA	1	262	12766	602952
HP:0002808	HP:0002808	Kyphosis	0	NSDHL CL E G H	50814	300831	NSDHL-Related Disorders	300831	C3151781	OMIM	1	289	13398	300275
HP:0002808	HP:0002808	Kyphosis	0	NSDHL CL E G H	50814	300831	NSDHL-Related Disorders	300831	C3151781	OMIM	1	303	13398	300275
HP:0002808	HP:0002808	Kyphosis	0	NXN CL E G H	64359	1507	Congenital unilateral pulmonary hypoplasia			ORPHA	1	166	18008	612895
HP:0002808	HP:0002808	Kyphosis	0	NXN CL E G H	64359	1507	Congenital unilateral pulmonary hypoplasia			ORPHA	1	203	18008	612895
HP:0002808	HP:0002808	Kyphosis	0	OCRL CL E G H	4952	309000	Lowe syndrome	309000	C0028860	OMIM	1	425	8108	300535
HP:0002808	HP:0002808	Kyphosis	0	OCRL CL E G H	4952	309000	Lowe syndrome	309000	C0028860	OMIM	1	475	8108	300535
HP:0002808	HP:0002808	Kyphosis	0	P3H1 CL E G H	64175	610915	Osteogenesis imperfecta type 8	610915	C1970458	OMIM	1	359	19316	610339
HP:0002808	HP:0002808	Kyphosis	0	P3H1 CL E G H	64175	610915	Osteogenesis imperfecta type 8	610915	C1970458	OMIM	1	436	19316	610339
HP:0002808	HP:0002808	Kyphosis	0	P4HB CL E G H	5034	2050	Ectodermal dysplasia Margarita type			ORPHA	1	97	8548	176790
HP:0002808	HP:0002808	Kyphosis	0	P4HB CL E G H	5034	2050	Ectodermal dysplasia Margarita type			ORPHA	1	128	8548	176790
HP:0002808	HP:0002808	Kyphosis	0	PDE11A CL E G H	50940	610475	Pigmented nodular adrenocortical disease, primary, 2	610475	C1864851	OMIM	1	137	8773	604961
HP:0002808	HP:0002808	Kyphosis	0	PDE11A CL E G H	50940	610475	Pigmented nodular adrenocortical disease, primary, 2	610475	C1864851	OMIM	1	145	8773	604961
HP:0002808	HP:0002808	Kyphosis	0	PHF6 CL E G H	84295	301900	Borjeson-Forssman-Lehmann syndrome	301900	C0265339	OMIM	1	269	18145	300414
HP:0002808	HP:0002808	Kyphosis	0	PHF6 CL E G H	84295	301900	Borjeson-Forssman-Lehmann syndrome	301900	C0265339	OMIM	1	274	18145	300414
HP:0002808	HP:0002808	Kyphosis	0	PIEZO2 CL E G H	63895	2461				ORPHA	1	672	26270	613629
HP:0002808	HP:0002808	Kyphosis	0	PIEZO2 CL E G H	63895	2461				ORPHA	1	709	26270	613629
HP:0002808	HP:0002808	Kyphosis	0	PIEZO2 CL E G H	63895	248700	Marden-Walker syndrome	248700	C0796033	OMIM	1	672	26270	613629
HP:0002808	HP:0002808	Kyphosis	0	PIEZO2 CL E G H	63895	248700	Marden-Walker syndrome	248700	C0796033	OMIM	1	709	26270	613629
HP:0002808	HP:0002808	Kyphosis	0	PIK3CA CL E G H	5290	615108	Cowden syndrome 5	615108	C3554518	OMIM	1	544	8975	171834
HP:0002808	HP:0002808	Kyphosis	0	PIK3CA CL E G H	5290	615108	Cowden syndrome 5	615108	C3554518	OMIM	1	613	8975	171834
HP:0002808	HP:0002808	Kyphosis	0	PIK3R2 CL E G H	5296	603387	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	603387	C1863924	OMIM	1	166	8980	603157
HP:0002808	HP:0002808	Kyphosis	0	PIK3R2 CL E G H	5296	603387	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	603387	C1863924	OMIM	1	188	8980	603157
HP:0002808	HP:0002808	Kyphosis	0	PLAA CL E G H	9373	521426				ORPHA	1	96	9043	603873
HP:0002808	HP:0002808	Kyphosis	0	PLAA CL E G H	9373	521426				ORPHA	1	222	9043	603873
HP:0002808	HP:0002808	Kyphosis	0	PLOD1 CL E G H	5351	1900				ORPHA	1	585	9081	153454
HP:0002808	HP:0002808	Kyphosis	0	PLOD1 CL E G H	5351	1900				ORPHA	1	661	9081	153454
HP:0002808	HP:0002808	Kyphosis	0	PLOD1 CL E G H	5351	225400	Ehlers-Danlos syndrome, hydroxylysine-deficient	225400	C0268342	OMIM	1	585	9081	153454
HP:0002808	HP:0002808	Kyphosis	0	PLOD1 CL E G H	5351	225400	Ehlers-Danlos syndrome, hydroxylysine-deficient	225400	C0268342	OMIM	1	661	9081	153454
HP:0002808	HP:0002808	Kyphosis	0	PLOD2 CL E G H	5352	2771	Hydrocephalus costovertebral dysplasia Sprengel anomaly			ORPHA	1	211	9082	601865
HP:0002808	HP:0002808	Kyphosis	0	PLOD2 CL E G H	5352	2771	Hydrocephalus costovertebral dysplasia Sprengel anomaly			ORPHA	1	262	9082	601865
HP:0002808	HP:0002808	Kyphosis	0	PMM2 CL E G H	5373	212065	Carbohydrate-deficient glycoprotein syndrome type I	212065	C0349653	OMIM	1	491	9115	601785
HP:0002808	HP:0002808	Kyphosis	0	PMM2 CL E G H	5373	212065	Carbohydrate-deficient glycoprotein syndrome type I	212065	C0349653	OMIM	1	542	9115	601785
HP:0002808	HP:0002808	Kyphosis	0	POLD1 CL E G H	5424	615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	615381	C3715192	OMIM	1	2782	9175	174761
HP:0002808	HP:0002808	Kyphosis	0	POLD1 CL E G H	5424	615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	615381	C3715192	OMIM	1	3124	9175	174761
HP:0002808	HP:0002808	Kyphosis	0	PPIB CL E G H	5479	259440	Osteogenesis imperfecta type 9	259440	C1850169	OMIM	1	97	9255	123841
HP:0002808	HP:0002808	Kyphosis	0	PPIB CL E G H	5479	259440	Osteogenesis imperfecta type 9	259440	C1850169	OMIM	1	111	9255	123841
HP:0002808	HP:0002808	Kyphosis	0	PRKAR1A CL E G H	5573	610489	Pigmented nodular adrenocortical disease, primary, 1	610489	C1864846	OMIM	1	623	9388	188830
HP:0002808	HP:0002808	Kyphosis	0	PRKAR1A CL E G H	5573	610489	Pigmented nodular adrenocortical disease, primary, 1	610489	C1864846	OMIM	1	725	9388	188830
HP:0002808	HP:0002808	Kyphosis	0	PTCH1 CL E G H	5727	77301				ORPHA	1	2628	9585	601309
HP:0002808	HP:0002808	Kyphosis	0	PTCH1 CL E G H	5727	77301				ORPHA	1	2988	9585	601309
HP:0002808	HP:0002808	Kyphosis	0	PTEN CL E G H	5728	744	Aortic valves stenosis of the child			ORPHA	1	2246	9588	601728
HP:0002808	HP:0002808	Kyphosis	0	PTEN CL E G H	5728	744	Aortic valves stenosis of the child			ORPHA	1	2416	9588	601728
HP:0002808	HP:0002808	Kyphosis	0	PTEN CL E G H	5728	158350	Cowden syndrome 1	158350	CN072330	OMIM	1	2246	9588	601728
HP:0002808	HP:0002808	Kyphosis	0	PTEN CL E G H	5728	158350	Cowden syndrome 1	158350	CN072330	OMIM	1	2416	9588	601728
HP:0002808	HP:0002808	Kyphosis	0	PUS1 CL E G H	80324	2598	Mitochondrial myopathy and sideroblastic anemia		CN220387	ORPHA	1	258	15508	608109
HP:0002808	HP:0002808	Kyphosis	0	PUS1 CL E G H	80324	2598	Mitochondrial myopathy and sideroblastic anemia		CN220387	ORPHA	1	275	15508	608109
HP:0002808	HP:0002808	Kyphosis	0	PWAR1 CL E G H	145624	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	317	30089	600161
HP:0002808	HP:0002808	Kyphosis	0	PWAR1 CL E G H	145624	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	319	30089	600161
HP:0002808	HP:0002808	Kyphosis	0	PWRN1 CL E G H	791114	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	328	33235	611215
HP:0002808	HP:0002808	Kyphosis	0	PWRN1 CL E G H	791114	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	329	33235	611215
HP:0002808	HP:0002808	Kyphosis	0	RAB18 CL E G H	22931	2510				ORPHA	1	170	14244	602207
HP:0002808	HP:0002808	Kyphosis	0	RAB18 CL E G H	22931	2510				ORPHA	1	175	14244	602207
HP:0002808	HP:0002808	Kyphosis	0	RAB3GAP1 CL E G H	22930	2510				ORPHA	1	270	17063	602536
HP:0002808	HP:0002808	Kyphosis	0	RAB3GAP1 CL E G H	22930	2510				ORPHA	1	290	17063	602536
HP:0002808	HP:0002808	Kyphosis	0	RAB3GAP2 CL E G H	25782	2510				ORPHA	1	410	17168	609275
HP:0002808	HP:0002808	Kyphosis	0	RAB3GAP2 CL E G H	25782	2510				ORPHA	1	441	17168	609275
HP:0002808	HP:0002808	Kyphosis	0	RET CL E G H	5979	162300	Multiple endocrine neoplasia, type 2b	162300	C0025269	OMIM	1	1807	9967	164761
HP:0002808	HP:0002808	Kyphosis	0	RET CL E G H	5979	162300	Multiple endocrine neoplasia, type 2b	162300	C0025269	OMIM	1	2050	9967	164761
HP:0002808	HP:0002808	Kyphosis	0	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	174	9970	600404
HP:0002808	HP:0002808	Kyphosis	0	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	175	9970	600404
HP:0002808	HP:0002808	Kyphosis	0	RIPPLY2 CL E G H	134701	2311	Autosomal recessive spondylocostal dysostosis		CN043670	ORPHA	1	48	21390	609891
HP:0002808	HP:0002808	Kyphosis	0	RIPPLY2 CL E G H	134701	2311	Autosomal recessive spondylocostal dysostosis		CN043670	ORPHA	1	60	21390	609891
HP:0002808	HP:0002808	Kyphosis	0	ROBO3 CL E G H	64221	2744				ORPHA	1	234	13433	608630
HP:0002808	HP:0002808	Kyphosis	0	ROBO3 CL E G H	64221	2744				ORPHA	1	236	13433	608630
HP:0002808	HP:0002808	Kyphosis	0	ROR2 CL E G H	4920	1507	Congenital unilateral pulmonary hypoplasia			ORPHA	1	355	10257	602337
HP:0002808	HP:0002808	Kyphosis	0	ROR2 CL E G H	4920	1507	Congenital unilateral pulmonary hypoplasia			ORPHA	1	424	10257	602337
HP:0002808	HP:0002808	Kyphosis	0	RPS6KA3 CL E G H	6197	303600	Coffin-Lowry syndrome	303600	C0265252	OMIM	1	383	10432	300075
HP:0002808	HP:0002808	Kyphosis	0	RPS6KA3 CL E G H	6197	303600	Coffin-Lowry syndrome	303600	C0265252	OMIM	1	404	10432	300075
HP:0002808	HP:0002808	Kyphosis	0	RPS6KA3 CL E G H	6197	192	Karandikar Maria Kamble syndrome			ORPHA	1	383	10432	300075
HP:0002808	HP:0002808	Kyphosis	0	RPS6KA3 CL E G H	6197	192	Karandikar Maria Kamble syndrome			ORPHA	1	404	10432	300075
HP:0002808	HP:0002808	Kyphosis	0	RUNX2 CL E G H	860	119600	Cleidocranial dysostosis	119600	C0008928	OMIM	1	265	10472	600211
HP:0002808	HP:0002808	Kyphosis	0	RUNX2 CL E G H	860	119600	Cleidocranial dysostosis	119600	C0008928	OMIM	1	333	10472	600211
HP:0002808	HP:0002808	Kyphosis	0	SCARB2 CL E G H	950	77259				ORPHA	1	328	1665	602257
HP:0002808	HP:0002808	Kyphosis	0	SCARB2 CL E G H	950	77259				ORPHA	1	376	1665	602257
HP:0002808	HP:0002808	Kyphosis	0	SEC24D CL E G H	9871	616294	Cole-Carpenter syndrome 2	616294	C4225382	OMIM	1	176	10706	607186
HP:0002808	HP:0002808	Kyphosis	0	SEC24D CL E G H	9871	616294	Cole-Carpenter syndrome 2	616294	C4225382	OMIM	1	247	10706	607186
HP:0002808	HP:0002808	Kyphosis	0	SEC24D CL E G H	9871	2050	Ectodermal dysplasia Margarita type			ORPHA	1	176	10706	607186
HP:0002808	HP:0002808	Kyphosis	0	SEC24D CL E G H	9871	2050	Ectodermal dysplasia Margarita type			ORPHA	1	247	10706	607186
HP:0002808	HP:0002808	Kyphosis	0	SETD5 CL E G H	55209	615761	Mental retardation, autosomal dominant 23	615761	C3810406	OMIM	1	418	25566	615743
HP:0002808	HP:0002808	Kyphosis	0	SETD5 CL E G H	55209	615761	Mental retardation, autosomal dominant 23	615761	C3810406	OMIM	1	492	25566	615743
HP:0002808	HP:0002808	Kyphosis	0	SH3PXD2B CL E G H	285590	137834				ORPHA	1	341	29242	613293
HP:0002808	HP:0002808	Kyphosis	0	SH3PXD2B CL E G H	285590	137834				ORPHA	1	385	29242	613293
HP:0002808	HP:0002808	Kyphosis	0	SHROOM4 CL E G H	57477	300434	Stocco dos Santos syndrome	300434	C1845530	OMIM	1	248	29215	300579
HP:0002808	HP:0002808	Kyphosis	0	SHROOM4 CL E G H	57477	300434	Stocco dos Santos syndrome	300434	C1845530	OMIM	1	260	29215	300579
HP:0002808	HP:0002808	Kyphosis	0	SIL1 CL E G H	64374	248800	Marinesco-Sjögren syndrome	248800	C0024814	OMIM	1	206	24624	608005
HP:0002808	HP:0002808	Kyphosis	0	SIL1 CL E G H	64374	248800	Marinesco-Sjögren syndrome	248800	C0024814	OMIM	1	217	24624	608005
HP:0002808	HP:0002808	Kyphosis	0	SLC26A2 CL E G H	1836	628				ORPHA	1	432	10994	606718
HP:0002808	HP:0002808	Kyphosis	0	SLC26A2 CL E G H	1836	628				ORPHA	1	492	10994	606718
HP:0002808	HP:0002808	Kyphosis	0	SLC52A3 CL E G H	113278	211530	Brown-Vialetto-Van Laere syndrome 1	211530	CN029849	OMIM	1	314	16187	613350
HP:0002808	HP:0002808	Kyphosis	0	SLC52A3 CL E G H	113278	211530	Brown-Vialetto-Van Laere syndrome 1	211530	CN029849	OMIM	1	363	16187	613350
HP:0002808	HP:0002808	Kyphosis	0	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	259	14025	608761
HP:0002808	HP:0002808	Kyphosis	0	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	315	14025	608761
HP:0002808	HP:0002808	Kyphosis	0	SNORD115-1 CL E G H	338433	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	319	33020	609837
HP:0002808	HP:0002808	Kyphosis	0	SNORD115-1 CL E G H	338433	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	321	33020	609837
HP:0002808	HP:0002808	Kyphosis	0	SNORD116-1 CL E G H	100033413	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	320	33067	605436
HP:0002808	HP:0002808	Kyphosis	0	SNORD116-1 CL E G H	100033413	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	321	33067	605436
HP:0002808	HP:0002808	Kyphosis	0	SNRPB CL E G H	6628	1393				ORPHA	1	55	11153	182282
HP:0002808	HP:0002808	Kyphosis	0	SNRPB CL E G H	6628	1393				ORPHA	1	68	11153	182282
HP:0002808	HP:0002808	Kyphosis	0	SNRPN CL E G H	6638	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	397	11164	182279
HP:0002808	HP:0002808	Kyphosis	0	SNRPN CL E G H	6638	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	398	11164	182279
HP:0002808	HP:0002808	Kyphosis	0	SON CL E G H	6651	617140	ZTTK syndrome	617140	C4310696	OMIM	1	322	11183	182465
HP:0002808	HP:0002808	Kyphosis	0	SON CL E G H	6651	617140	ZTTK syndrome	617140	C4310696	OMIM	1	419	11183	182465
HP:0002808	HP:0002808	Kyphosis	0	TBC1D20 CL E G H	128637	2510				ORPHA	1	135	16133	611663
HP:0002808	HP:0002808	Kyphosis	0	TBC1D20 CL E G H	128637	2510				ORPHA	1	142	16133	611663
HP:0002808	HP:0002808	Kyphosis	0	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	161	11586	605842
HP:0002808	HP:0002808	Kyphosis	0	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	162	11586	605842
HP:0002808	HP:0002808	Kyphosis	0	TBX2 CL E G H	6909	618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	618223		OMIM	1	58	11597	600747
HP:0002808	HP:0002808	Kyphosis	0	TBX2 CL E G H	6909	618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	618223		OMIM	1	65	11597	600747
HP:0002808	HP:0002808	Kyphosis	0	TBX5 CL E G H	6910	392	Weinstein Kliman Scully syndrome			ORPHA	1	375	11604	601620
HP:0002808	HP:0002808	Kyphosis	0	TBX5 CL E G H	6910	392	Weinstein Kliman Scully syndrome			ORPHA	1	403	11604	601620
HP:0002808	HP:0002808	Kyphosis	0	TFAP2A CL E G H	7020	113620	Branchiooculofacial syndrome	113620	C0376524	OMIM	1	132	11742	107580
HP:0002808	HP:0002808	Kyphosis	0	TFAP2A CL E G H	7020	113620	Branchiooculofacial syndrome	113620	C0376524	OMIM	1	142	11742	107580
HP:0002808	HP:0002808	Kyphosis	0	TLK2 CL E G H	11011	618050	MENTAL RETARDATION, AUTOSOMAL DOMINANT 57	618050	CN252334	OMIM	1	99	11842	608439
HP:0002808	HP:0002808	Kyphosis	0	TLK2 CL E G H	11011	618050	MENTAL RETARDATION, AUTOSOMAL DOMINANT 57	618050	CN252334	OMIM	1	105	11842	608439
HP:0002808	HP:0002808	Kyphosis	0	TNFRSF11B CL E G H	4982	239000	Hyperphosphatasemia with bone disease	239000	C0268414	OMIM	1	123	11909	602643
HP:0002808	HP:0002808	Kyphosis	0	TNFRSF11B CL E G H	4982	239000	Hyperphosphatasemia with bone disease	239000	C0268414	OMIM	1	143	11909	602643
HP:0002808	HP:0002808	Kyphosis	0	TOR1A CL E G H	1861	128100	Dystonia 1	128100	C1851945	OMIM	1	156	3098	605204
HP:0002808	HP:0002808	Kyphosis	0	TOR1A CL E G H	1861	128100	Dystonia 1	128100	C1851945	OMIM	1	161	3098	605204
HP:0002808	HP:0002808	Kyphosis	0	TPI1 CL E G H	7167	615512	Triosephosphate isomerase deficiency	615512	C1860808	OMIM	1	109	12009	190450
HP:0002808	HP:0002808	Kyphosis	0	TPI1 CL E G H	7167	615512	Triosephosphate isomerase deficiency	615512	C1860808	OMIM	1	132	12009	190450
HP:0002808	HP:0002808	Kyphosis	0	TRAPPC2 CL E G H	6399	313400	Spondyloepiphyseal dysplasia tarda	313400	C3541456	OMIM	1	279	23068	300202
HP:0002808	HP:0002808	Kyphosis	0	TRAPPC2 CL E G H	6399	313400	Spondyloepiphyseal dysplasia tarda	313400	C3541456	OMIM	1	289	23068	300202
HP:0002808	HP:0002808	Kyphosis	0	TRPV4 CL E G H	59341	2635				ORPHA	1	703	18083	605427
HP:0002808	HP:0002808	Kyphosis	0	TRPV4 CL E G H	59341	2635				ORPHA	1	781	18083	605427
HP:0002808	HP:0002808	Kyphosis	0	TRPV4 CL E G H	59341	93314				ORPHA	1	703	18083	605427
HP:0002808	HP:0002808	Kyphosis	0	TRPV4 CL E G H	59341	93314				ORPHA	1	781	18083	605427
HP:0002808	HP:0002808	Kyphosis	0	TRPV4 CL E G H	59341	113500	Brachyrachia (short spine dysplasia)	113500	C0432227	OMIM	1	703	18083	605427
HP:0002808	HP:0002808	Kyphosis	0	TRPV4 CL E G H	59341	113500	Brachyrachia (short spine dysplasia)	113500	C0432227	OMIM	1	781	18083	605427
HP:0002808	HP:0002808	Kyphosis	0	TRPV4 CL E G H	59341	600175	Distal spinal muscular atrophy, congenital nonprogressive	600175	C1838492	OMIM	1	703	18083	605427
HP:0002808	HP:0002808	Kyphosis	0	TRPV4 CL E G H	59341	600175	Distal spinal muscular atrophy, congenital nonprogressive	600175	C1838492	OMIM	1	781	18083	605427
HP:0002808	HP:0002808	Kyphosis	0	TRPV4 CL E G H	59341	156530	Metatrophic dysplasia	156530	C0265281	OMIM	1	703	18083	605427
HP:0002808	HP:0002808	Kyphosis	0	TRPV4 CL E G H	59341	156530	Metatrophic dysplasia	156530	C0265281	OMIM	1	781	18083	605427
HP:0002808	HP:0002808	Kyphosis	0	TRPV4 CL E G H	59341	168400	Parastremmatic dwarfism	168400	C1868616	OMIM	1	703	18083	605427
HP:0002808	HP:0002808	Kyphosis	0	TRPV4 CL E G H	59341	168400	Parastremmatic dwarfism	168400	C1868616	OMIM	1	781	18083	605427
HP:0002808	HP:0002808	Kyphosis	0	TRPV4 CL E G H	59341	181405	Scapuloperoneal spinal muscular atrophy	181405	C0751335	OMIM	1	703	18083	605427
HP:0002808	HP:0002808	Kyphosis	0	TRPV4 CL E G H	59341	181405	Scapuloperoneal spinal muscular atrophy	181405	C0751335	OMIM	1	781	18083	605427
HP:0002808	HP:0002808	Kyphosis	0	UBA1 CL E G H	7317	1145				ORPHA	1	447	12469	314370
HP:0002808	HP:0002808	Kyphosis	0	UBA1 CL E G H	7317	1145				ORPHA	1	482	12469	314370
HP:0002808	HP:0002808	Kyphosis	0	UPF3B CL E G H	65109	300676	Mental retardation, syndromic 14, X-linked	300676	C1970822	OMIM	1	262	20439	300298
HP:0002808	HP:0002808	Kyphosis	0	UPF3B CL E G H	65109	300676	Mental retardation, syndromic 14, X-linked	300676	C1970822	OMIM	1	269	20439	300298
HP:0002808	HP:0002808	Kyphosis	0	USP8 CL E G H	9101	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	98	12631	603158
HP:0002808	HP:0002808	Kyphosis	0	USP8 CL E G H	9101	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	115	12631	603158
HP:0002808	HP:0002808	Kyphosis	0	VPS37A CL E G H	137492	319199				ORPHA	1	173	24928	609927
HP:0002808	HP:0002808	Kyphosis	0	VPS37A CL E G H	137492	319199				ORPHA	1	188	24928	609927
HP:0002808	HP:0002808	Kyphosis	0	VPS37A CL E G H	137492	614898	Spastic paraplegia 53, autosomal recessive	614898	C3539494	OMIM	1	173	24928	609927
HP:0002808	HP:0002808	Kyphosis	0	VPS37A CL E G H	137492	614898	Spastic paraplegia 53, autosomal recessive	614898	C3539494	OMIM	1	188	24928	609927
HP:0002808	HP:0002808	Kyphosis	0	WASHC5 CL E G H	9897	7	Typical Joubert syndrome MRI findings		CN228298	ORPHA	1	457	28984	610657
HP:0002808	HP:0002808	Kyphosis	0	WASHC5 CL E G H	9897	7	Typical Joubert syndrome MRI findings		CN228298	ORPHA	1	493	28984	610657
HP:0002808	HP:0002808	Kyphosis	0	WHCR CL E G H	7467	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1		12764	0
HP:0002808	HP:0002808	Kyphosis	0	YARS2 CL E G H	51067	2598	Mitochondrial myopathy and sideroblastic anemia		CN220387	ORPHA	1	243	24249	610957
HP:0002808	HP:0002808	Kyphosis	0	YARS2 CL E G H	51067	2598	Mitochondrial myopathy and sideroblastic anemia		CN220387	ORPHA	1	291	24249	610957
HP:0002808	HP:0002808	Kyphosis	0	ZBTB20 CL E G H	26137	3042				ORPHA	1	132	13503	606025
HP:0002808	HP:0002808	Kyphosis	0	ZBTB20 CL E G H	26137	3042				ORPHA	1	141	13503	606025
HP:0002808	HP:0002808	Kyphosis	0	ZBTB20 CL E G H	26137	259050	Primrose syndrome	259050	C0796121	OMIM	1	132	13503	606025
HP:0002808	HP:0002808	Kyphosis	0	ZBTB20 CL E G H	26137	259050	Primrose syndrome	259050	C0796121	OMIM	1	141	13503	606025
HP:0002808	HP:0002808	Kyphosis	0	ZC4H2 CL E G H	55906	314580	Wieacker Wolff syndrome	314580	C0796200	OMIM	1	217	24931	300897
HP:0002808	HP:0002808	Kyphosis	0	ZC4H2 CL E G H	55906	314580	Wieacker Wolff syndrome	314580	C0796200	OMIM	1	223	24931	300897
HP:0002808	HP:0002808	Kyphosis	0	ZMPSTE24 CL E G H	10269	740	Aortic arch interruption			ORPHA	1	149	12877	606480
HP:0002808	HP:0002808	Kyphosis	0	ZMPSTE24 CL E G H	10269	740	Aortic arch interruption			ORPHA	1	167	12877	606480
HP:0002808	HP:0002942	Thoracic kyphosis	1	ABCC6 CL E G H	368	177850	Pseudoxanthoma elasticum, forme fruste	177850	C1867450	OMIM	1	914	57	603234
HP:0002808	HP:0002942	Thoracic kyphosis	1	ABCC6 CL E G H	368	177850	Pseudoxanthoma elasticum, forme fruste	177850	C1867450	OMIM	1	1137	57	603234
HP:0002808	HP:0002947	Cervical kyphosis	1	ABCC6 CL E G H	368	177850	Pseudoxanthoma elasticum, forme fruste	177850	C1867450	OMIM	1	914	57	603234
HP:0002808	HP:0002947	Cervical kyphosis	1	ABCC6 CL E G H	368	177850	Pseudoxanthoma elasticum, forme fruste	177850	C1867450	OMIM	1	1137	57	603234
HP:0002808	HP:0002751	Kyphoscoliosis	1	ABCC6 CL E G H	368	177850	Pseudoxanthoma elasticum, forme fruste	177850	C1867450	OMIM	1	914	57	603234
HP:0002808	HP:0002751	Kyphoscoliosis	1	ABCC6 CL E G H	368	177850	Pseudoxanthoma elasticum, forme fruste	177850	C1867450	OMIM	1	1137	57	603234
HP:0002808	HP:0002942	Thoracic kyphosis	1	ACP5 CL E G H	54	1855				ORPHA	1	149	124	171640
HP:0002808	HP:0002942	Thoracic kyphosis	1	ACP5 CL E G H	54	1855				ORPHA	1	197	124	171640
HP:0002808	HP:0002947	Cervical kyphosis	1	ACP5 CL E G H	54	1855				ORPHA	1	149	124	171640
HP:0002808	HP:0002947	Cervical kyphosis	1	ACP5 CL E G H	54	1855				ORPHA	1	197	124	171640
HP:0002808	HP:0002751	Kyphoscoliosis	1	ACP5 CL E G H	54	1855				ORPHA	1	149	124	171640
HP:0002808	HP:0002751	Kyphoscoliosis	1	ACP5 CL E G H	54	1855				ORPHA	1	197	124	171640
HP:0002808	HP:0002942	Thoracic kyphosis	1	ACTB CL E G H	60	79107				ORPHA	1	322	132	102630
HP:0002808	HP:0002942	Thoracic kyphosis	1	ACTB CL E G H	60	79107				ORPHA	1	349	132	102630
HP:0002808	HP:0002947	Cervical kyphosis	1	ACTB CL E G H	60	79107				ORPHA	1	322	132	102630
HP:0002808	HP:0002947	Cervical kyphosis	1	ACTB CL E G H	60	79107				ORPHA	1	349	132	102630
HP:0002808	HP:0002751	Kyphoscoliosis	1	ACTB CL E G H	60	79107				ORPHA	1	322	132	102630
HP:0002808	HP:0002751	Kyphoscoliosis	1	ACTB CL E G H	60	79107				ORPHA	1	349	132	102630
HP:0002808	HP:0002942	Thoracic kyphosis	1	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	330	318	613228
HP:0002808	HP:0002942	Thoracic kyphosis	1	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	355	318	613228
HP:0002808	HP:0002947	Cervical kyphosis	1	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	330	318	613228
HP:0002808	HP:0002947	Cervical kyphosis	1	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	355	318	613228
HP:0002808	HP:0002751	Kyphoscoliosis	1	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	330	318	613228
HP:0002808	HP:0002751	Kyphoscoliosis	1	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	355	318	613228
HP:0002808	HP:0002942	Thoracic kyphosis	1	AIFM1 CL E G H	9131	101078				ORPHA	1	413	8768	300169
HP:0002808	HP:0002942	Thoracic kyphosis	1	AIFM1 CL E G H	9131	101078				ORPHA	1	450	8768	300169
HP:0002808	HP:0002947	Cervical kyphosis	1	AIFM1 CL E G H	9131	101078				ORPHA	1	413	8768	300169
HP:0002808	HP:0002947	Cervical kyphosis	1	AIFM1 CL E G H	9131	101078				ORPHA	1	450	8768	300169
HP:0002808	HP:0002751	Kyphoscoliosis	1	AIFM1 CL E G H	9131	101078				ORPHA	1	413	8768	300169
HP:0002808	HP:0002751	Kyphoscoliosis	1	AIFM1 CL E G H	9131	101078				ORPHA	1	450	8768	300169
HP:0002808	HP:0002942	Thoracic kyphosis	1	AIP CL E G H	9049	963				ORPHA	1	395	358	605555
HP:0002808	HP:0002942	Thoracic kyphosis	1	AIP CL E G H	9049	963				ORPHA	1	487	358	605555
HP:0002808	HP:0002947	Cervical kyphosis	1	AIP CL E G H	9049	963				ORPHA	1	395	358	605555
HP:0002808	HP:0002947	Cervical kyphosis	1	AIP CL E G H	9049	963				ORPHA	1	487	358	605555
HP:0002808	HP:0002751	Kyphoscoliosis	1	AIP CL E G H	9049	963				ORPHA	1	395	358	605555
HP:0002808	HP:0002751	Kyphoscoliosis	1	AIP CL E G H	9049	963				ORPHA	1	487	358	605555
HP:0002808	HP:0002942	Thoracic kyphosis	1	AIP CL E G H	9049	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	395	358	605555
HP:0002808	HP:0002942	Thoracic kyphosis	1	AIP CL E G H	9049	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	487	358	605555
HP:0002808	HP:0002947	Cervical kyphosis	1	AIP CL E G H	9049	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	395	358	605555
HP:0002808	HP:0002947	Cervical kyphosis	1	AIP CL E G H	9049	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	487	358	605555
HP:0002808	HP:0002751	Kyphoscoliosis	1	AIP CL E G H	9049	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	395	358	605555
HP:0002808	HP:0002751	Kyphoscoliosis	1	AIP CL E G H	9049	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	487	358	605555
HP:0002808	HP:0002942	Thoracic kyphosis	1	AKT1 CL E G H	207	744	Aortic valves stenosis of the child			ORPHA	1	380	391	164730
HP:0002808	HP:0002942	Thoracic kyphosis	1	AKT1 CL E G H	207	744	Aortic valves stenosis of the child			ORPHA	1	417	391	164730
HP:0002808	HP:0002947	Cervical kyphosis	1	AKT1 CL E G H	207	744	Aortic valves stenosis of the child			ORPHA	1	380	391	164730
HP:0002808	HP:0002947	Cervical kyphosis	1	AKT1 CL E G H	207	744	Aortic valves stenosis of the child			ORPHA	1	417	391	164730
HP:0002808	HP:0002751	Kyphoscoliosis	1	AKT1 CL E G H	207	744	Aortic valves stenosis of the child			ORPHA	1	380	391	164730
HP:0002808	HP:0002751	Kyphoscoliosis	1	AKT1 CL E G H	207	744	Aortic valves stenosis of the child			ORPHA	1	417	391	164730
HP:0002808	HP:0002942	Thoracic kyphosis	1	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	380	391	164730
HP:0002808	HP:0002942	Thoracic kyphosis	1	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	417	391	164730
HP:0002808	HP:0002947	Cervical kyphosis	1	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	380	391	164730
HP:0002808	HP:0002947	Cervical kyphosis	1	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	417	391	164730
HP:0002808	HP:0002751	Kyphoscoliosis	1	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	380	391	164730
HP:0002808	HP:0002751	Kyphoscoliosis	1	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	417	391	164730
HP:0002808	HP:0002942	Thoracic kyphosis	1	ALDH3A2 CL E G H	224	816				ORPHA	1	437	403	609523
HP:0002808	HP:0002942	Thoracic kyphosis	1	ALDH3A2 CL E G H	224	816				ORPHA	1	475	403	609523
HP:0002808	HP:0002947	Cervical kyphosis	1	ALDH3A2 CL E G H	224	816				ORPHA	1	437	403	609523
HP:0002808	HP:0002947	Cervical kyphosis	1	ALDH3A2 CL E G H	224	816				ORPHA	1	475	403	609523
HP:0002808	HP:0002751	Kyphoscoliosis	1	ALDH3A2 CL E G H	224	816				ORPHA	1	437	403	609523
HP:0002808	HP:0002751	Kyphoscoliosis	1	ALDH3A2 CL E G H	224	816				ORPHA	1	475	403	609523
HP:0002808	HP:0002942	Thoracic kyphosis	1	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	2504	428	606844
HP:0002808	HP:0002942	Thoracic kyphosis	1	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	3342	428	606844
HP:0002808	HP:0002947	Cervical kyphosis	1	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	2504	428	606844
HP:0002808	HP:0002947	Cervical kyphosis	1	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	3342	428	606844
HP:0002808	HP:0002751	Kyphoscoliosis	1	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	2504	428	606844
HP:0002808	HP:0002751	Kyphoscoliosis	1	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	3342	428	606844
HP:0002808	HP:0002942	Thoracic kyphosis	1	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	866	18040	614556
HP:0002808	HP:0002942	Thoracic kyphosis	1	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	958	18040	614556
HP:0002808	HP:0002947	Cervical kyphosis	1	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	866	18040	614556
HP:0002808	HP:0002947	Cervical kyphosis	1	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	958	18040	614556
HP:0002808	HP:0002751	Kyphoscoliosis	1	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	866	18040	614556
HP:0002808	HP:0002751	Kyphoscoliosis	1	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	958	18040	614556
HP:0002808	HP:0002942	Thoracic kyphosis	1	ASAH1 CL E G H	427	333				ORPHA	1	420	735	613468
HP:0002808	HP:0002942	Thoracic kyphosis	1	ASAH1 CL E G H	427	333				ORPHA	1	593	735	613468
HP:0002808	HP:0002947	Cervical kyphosis	1	ASAH1 CL E G H	427	333				ORPHA	1	420	735	613468
HP:0002808	HP:0002947	Cervical kyphosis	1	ASAH1 CL E G H	427	333				ORPHA	1	593	735	613468
HP:0002808	HP:0002751	Kyphoscoliosis	1	ASAH1 CL E G H	427	333				ORPHA	1	420	735	613468
HP:0002808	HP:0002751	Kyphoscoliosis	1	ASAH1 CL E G H	427	333				ORPHA	1	593	735	613468
HP:0002808	HP:0002942	Thoracic kyphosis	1	ASXL2 CL E G H	55252	617190	Shashi-Pena syndrome	617190	C4310672	OMIM	1	111	23805	612991
HP:0002808	HP:0002942	Thoracic kyphosis	1	ASXL2 CL E G H	55252	617190	Shashi-Pena syndrome	617190	C4310672	OMIM	1	170	23805	612991
HP:0002808	HP:0002947	Cervical kyphosis	1	ASXL2 CL E G H	55252	617190	Shashi-Pena syndrome	617190	C4310672	OMIM	1	111	23805	612991
HP:0002808	HP:0002947	Cervical kyphosis	1	ASXL2 CL E G H	55252	617190	Shashi-Pena syndrome	617190	C4310672	OMIM	1	170	23805	612991
HP:0002808	HP:0002751	Kyphoscoliosis	1	ASXL2 CL E G H	55252	617190	Shashi-Pena syndrome	617190	C4310672	OMIM	1	111	23805	612991
HP:0002808	HP:0002751	Kyphoscoliosis	1	ASXL2 CL E G H	55252	617190	Shashi-Pena syndrome	617190	C4310672	OMIM	1	170	23805	612991
HP:0002808	HP:0002942	Thoracic kyphosis	1	ATP6V0A2 CL E G H	23545	278250	Wrinkly skin syndrome	278250	C0406587	OMIM	1	417	18481	611716
HP:0002808	HP:0002942	Thoracic kyphosis	1	ATP6V0A2 CL E G H	23545	278250	Wrinkly skin syndrome	278250	C0406587	OMIM	1	458	18481	611716
HP:0002808	HP:0002947	Cervical kyphosis	1	ATP6V0A2 CL E G H	23545	278250	Wrinkly skin syndrome	278250	C0406587	OMIM	1	417	18481	611716
HP:0002808	HP:0002947	Cervical kyphosis	1	ATP6V0A2 CL E G H	23545	278250	Wrinkly skin syndrome	278250	C0406587	OMIM	1	458	18481	611716
HP:0002808	HP:0002751	Kyphoscoliosis	1	ATP6V0A2 CL E G H	23545	278250	Wrinkly skin syndrome	278250	C0406587	OMIM	1	417	18481	611716
HP:0002808	HP:0002751	Kyphoscoliosis	1	ATP6V0A2 CL E G H	23545	278250	Wrinkly skin syndrome	278250	C0406587	OMIM	1	458	18481	611716
HP:0002808	HP:0002942	Thoracic kyphosis	1	ATP7A CL E G H	538	304150	Cutis laxa, X-linked	304150	C0268353	OMIM	1	897	869	300011
HP:0002808	HP:0002942	Thoracic kyphosis	1	ATP7A CL E G H	538	304150	Cutis laxa, X-linked	304150	C0268353	OMIM	1	1003	869	300011
HP:0002808	HP:0002947	Cervical kyphosis	1	ATP7A CL E G H	538	304150	Cutis laxa, X-linked	304150	C0268353	OMIM	1	897	869	300011
HP:0002808	HP:0002947	Cervical kyphosis	1	ATP7A CL E G H	538	304150	Cutis laxa, X-linked	304150	C0268353	OMIM	1	1003	869	300011
HP:0002808	HP:0002751	Kyphoscoliosis	1	ATP7A CL E G H	538	304150	Cutis laxa, X-linked	304150	C0268353	OMIM	1	897	869	300011
HP:0002808	HP:0002751	Kyphoscoliosis	1	ATP7A CL E G H	538	304150	Cutis laxa, X-linked	304150	C0268353	OMIM	1	1003	869	300011
HP:0002808	HP:0002942	Thoracic kyphosis	1	AUTS2 CL E G H	26053	615834	Mental retardation, autosomal dominant 26	615834	C4014435	OMIM	1	439	14262	607270
HP:0002808	HP:0002942	Thoracic kyphosis	1	AUTS2 CL E G H	26053	615834	Mental retardation, autosomal dominant 26	615834	C4014435	OMIM	1	454	14262	607270
HP:0002808	HP:0002947	Cervical kyphosis	1	AUTS2 CL E G H	26053	615834	Mental retardation, autosomal dominant 26	615834	C4014435	OMIM	1	439	14262	607270
HP:0002808	HP:0002947	Cervical kyphosis	1	AUTS2 CL E G H	26053	615834	Mental retardation, autosomal dominant 26	615834	C4014435	OMIM	1	454	14262	607270
HP:0002808	HP:0002751	Kyphoscoliosis	1	AUTS2 CL E G H	26053	615834	Mental retardation, autosomal dominant 26	615834	C4014435	OMIM	1	439	14262	607270
HP:0002808	HP:0002751	Kyphoscoliosis	1	AUTS2 CL E G H	26053	615834	Mental retardation, autosomal dominant 26	615834	C4014435	OMIM	1	454	14262	607270
HP:0002808	HP:0002942	Thoracic kyphosis	1	B3GALT6 CL E G H	126792	93359				ORPHA	1	281	17978	615291
HP:0002808	HP:0002942	Thoracic kyphosis	1	B3GALT6 CL E G H	126792	93359				ORPHA	1	337	17978	615291
HP:0002808	HP:0002947	Cervical kyphosis	1	B3GALT6 CL E G H	126792	93359				ORPHA	1	281	17978	615291
HP:0002808	HP:0002947	Cervical kyphosis	1	B3GALT6 CL E G H	126792	93359				ORPHA	1	337	17978	615291
HP:0002808	HP:0002751	Kyphoscoliosis	1	B3GALT6 CL E G H	126792	93359				ORPHA	1	281	17978	615291
HP:0002808	HP:0002751	Kyphoscoliosis	1	B3GALT6 CL E G H	126792	93359				ORPHA	1	337	17978	615291
HP:0002808	HP:0002942	Thoracic kyphosis	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	191	961	605681
HP:0002808	HP:0002942	Thoracic kyphosis	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	192	961	605681
HP:0002808	HP:0002947	Cervical kyphosis	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	191	961	605681
HP:0002808	HP:0002947	Cervical kyphosis	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	192	961	605681
HP:0002808	HP:0002751	Kyphoscoliosis	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	191	961	605681
HP:0002808	HP:0002751	Kyphoscoliosis	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	192	961	605681
HP:0002808	HP:0002942	Thoracic kyphosis	1	BGN CL E G H	633	300106	Spondyloepimetaphyseal dysplasia X-linked	300106	C1848097	OMIM	1	284	1044	301870
HP:0002808	HP:0002942	Thoracic kyphosis	1	BGN CL E G H	633	300106	Spondyloepimetaphyseal dysplasia X-linked	300106	C1848097	OMIM	1	334	1044	301870
HP:0002808	HP:0002947	Cervical kyphosis	1	BGN CL E G H	633	300106	Spondyloepimetaphyseal dysplasia X-linked	300106	C1848097	OMIM	1	284	1044	301870
HP:0002808	HP:0002947	Cervical kyphosis	1	BGN CL E G H	633	300106	Spondyloepimetaphyseal dysplasia X-linked	300106	C1848097	OMIM	1	334	1044	301870
HP:0002808	HP:0002751	Kyphoscoliosis	1	BGN CL E G H	633	300106	Spondyloepimetaphyseal dysplasia X-linked	300106	C1848097	OMIM	1	284	1044	301870
HP:0002808	HP:0002751	Kyphoscoliosis	1	BGN CL E G H	633	300106	Spondyloepimetaphyseal dysplasia X-linked	300106	C1848097	OMIM	1	334	1044	301870
HP:0002808	HP:0002942	Thoracic kyphosis	1	BICD2 CL E G H	23299	618291	618291	618291		OMIM	1	445	17208	609797
HP:0002808	HP:0002942	Thoracic kyphosis	1	BICD2 CL E G H	23299	618291	618291	618291		OMIM	1	506	17208	609797
HP:0002808	HP:0002947	Cervical kyphosis	1	BICD2 CL E G H	23299	618291	618291	618291		OMIM	1	445	17208	609797
HP:0002808	HP:0002947	Cervical kyphosis	1	BICD2 CL E G H	23299	618291	618291	618291		OMIM	1	506	17208	609797
HP:0002808	HP:0002751	Kyphoscoliosis	1	BICD2 CL E G H	23299	618291	618291	618291		OMIM	1	445	17208	609797
HP:0002808	HP:0002751	Kyphoscoliosis	1	BICD2 CL E G H	23299	618291	618291	618291		OMIM	1	506	17208	609797
HP:0002808	HP:0002942	Thoracic kyphosis	1	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	431	1052	601248
HP:0002808	HP:0002942	Thoracic kyphosis	1	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	487	1052	601248
HP:0002808	HP:0002947	Cervical kyphosis	1	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	431	1052	601248
HP:0002808	HP:0002947	Cervical kyphosis	1	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	487	1052	601248
HP:0002808	HP:0002751	Kyphoscoliosis	1	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	431	1052	601248
HP:0002808	HP:0002751	Kyphoscoliosis	1	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	487	1052	601248
HP:0002808	HP:0002942	Thoracic kyphosis	1	CANT1 CL E G H	124583	251450	Desbuquois dysplasia 1	251450	C4012146	OMIM	1	185	19721	613165
HP:0002808	HP:0002942	Thoracic kyphosis	1	CANT1 CL E G H	124583	251450	Desbuquois dysplasia 1	251450	C4012146	OMIM	1	218	19721	613165
HP:0002808	HP:0002947	Cervical kyphosis	1	CANT1 CL E G H	124583	251450	Desbuquois dysplasia 1	251450	C4012146	OMIM	1	185	19721	613165
HP:0002808	HP:0002947	Cervical kyphosis	1	CANT1 CL E G H	124583	251450	Desbuquois dysplasia 1	251450	C4012146	OMIM	1	218	19721	613165
HP:0002808	HP:0002751	Kyphoscoliosis	1	CANT1 CL E G H	124583	251450	Desbuquois dysplasia 1	251450	C4012146	OMIM	1	185	19721	613165
HP:0002808	HP:0002751	Kyphoscoliosis	1	CANT1 CL E G H	124583	251450	Desbuquois dysplasia 1	251450	C4012146	OMIM	1	218	19721	613165
HP:0002808	HP:0002942	Thoracic kyphosis	1	CBS CL E G H	875	394				ORPHA	1	792	1550	613381
HP:0002808	HP:0002942	Thoracic kyphosis	1	CBS CL E G H	875	394				ORPHA	1	856	1550	613381
HP:0002808	HP:0002947	Cervical kyphosis	1	CBS CL E G H	875	394				ORPHA	1	792	1550	613381
HP:0002808	HP:0002947	Cervical kyphosis	1	CBS CL E G H	875	394				ORPHA	1	856	1550	613381
HP:0002808	HP:0002751	Kyphoscoliosis	1	CBS CL E G H	875	394				ORPHA	1	792	1550	613381
HP:0002808	HP:0002751	Kyphoscoliosis	1	CBS CL E G H	875	394				ORPHA	1	856	1550	613381
HP:0002808	HP:0002942	Thoracic kyphosis	1	CCDC22 CL E G H	28952	7	Typical Joubert syndrome MRI findings		CN228298	ORPHA	1	242	28909	300859
HP:0002808	HP:0002942	Thoracic kyphosis	1	CCDC22 CL E G H	28952	7	Typical Joubert syndrome MRI findings		CN228298	ORPHA	1	250	28909	300859
HP:0002808	HP:0002947	Cervical kyphosis	1	CCDC22 CL E G H	28952	7	Typical Joubert syndrome MRI findings		CN228298	ORPHA	1	242	28909	300859
HP:0002808	HP:0002947	Cervical kyphosis	1	CCDC22 CL E G H	28952	7	Typical Joubert syndrome MRI findings		CN228298	ORPHA	1	250	28909	300859
HP:0002808	HP:0002751	Kyphoscoliosis	1	CCDC22 CL E G H	28952	7	Typical Joubert syndrome MRI findings		CN228298	ORPHA	1	242	28909	300859
HP:0002808	HP:0002751	Kyphoscoliosis	1	CCDC22 CL E G H	28952	7	Typical Joubert syndrome MRI findings		CN228298	ORPHA	1	250	28909	300859
HP:0002808	HP:0002942	Thoracic kyphosis	1	CCN6 CL E G H	8838	1159				ORPHA	1	86	12771	603400
HP:0002808	HP:0002942	Thoracic kyphosis	1	CCN6 CL E G H	8838	1159				ORPHA	1	87	12771	603400
HP:0002808	HP:0002947	Cervical kyphosis	1	CCN6 CL E G H	8838	1159				ORPHA	1	86	12771	603400
HP:0002808	HP:0002947	Cervical kyphosis	1	CCN6 CL E G H	8838	1159				ORPHA	1	87	12771	603400
HP:0002808	HP:0002751	Kyphoscoliosis	1	CCN6 CL E G H	8838	1159				ORPHA	1	86	12771	603400
HP:0002808	HP:0002751	Kyphoscoliosis	1	CCN6 CL E G H	8838	1159				ORPHA	1	87	12771	603400
HP:0002808	HP:0002942	Thoracic kyphosis	1	CHRNG CL E G H	1146	265000	Multiple pterygium syndrome Escobar type	265000	C0265261	OMIM	1	206	1967	100730
HP:0002808	HP:0002942	Thoracic kyphosis	1	CHRNG CL E G H	1146	265000	Multiple pterygium syndrome Escobar type	265000	C0265261	OMIM	1	212	1967	100730
HP:0002808	HP:0002947	Cervical kyphosis	1	CHRNG CL E G H	1146	265000	Multiple pterygium syndrome Escobar type	265000	C0265261	OMIM	1	206	1967	100730
HP:0002808	HP:0002947	Cervical kyphosis	1	CHRNG CL E G H	1146	265000	Multiple pterygium syndrome Escobar type	265000	C0265261	OMIM	1	212	1967	100730
HP:0002808	HP:0002751	Kyphoscoliosis	1	CHRNG CL E G H	1146	265000	Multiple pterygium syndrome Escobar type	265000	C0265261	OMIM	1	206	1967	100730
HP:0002808	HP:0002751	Kyphoscoliosis	1	CHRNG CL E G H	1146	265000	Multiple pterygium syndrome Escobar type	265000	C0265261	OMIM	1	212	1967	100730
HP:0002808	HP:0002942	Thoracic kyphosis	1	CLCF1 CL E G H	23529	1545	Corsello Opitz syndrome			ORPHA	1	28	17412	607672
HP:0002808	HP:0002947	Cervical kyphosis	1	CLCF1 CL E G H	23529	1545	Corsello Opitz syndrome			ORPHA	1	28	17412	607672
HP:0002808	HP:0002751	Kyphoscoliosis	1	CLCF1 CL E G H	23529	1545	Corsello Opitz syndrome			ORPHA	1	28	17412	607672
HP:0002808	HP:0002942	Thoracic kyphosis	1	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	176	2586	603432
HP:0002808	HP:0002942	Thoracic kyphosis	1	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	177	2586	603432
HP:0002808	HP:0002947	Cervical kyphosis	1	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	176	2586	603432
HP:0002808	HP:0002947	Cervical kyphosis	1	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	177	2586	603432
HP:0002808	HP:0002751	Kyphoscoliosis	1	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	176	2586	603432
HP:0002808	HP:0002751	Kyphoscoliosis	1	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	177	2586	603432
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL11A2 CL E G H	1302	1427				ORPHA	1	705	2187	120290
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL11A2 CL E G H	1302	1427				ORPHA	1	974	2187	120290
HP:0002808	HP:0002947	Cervical kyphosis	1	COL11A2 CL E G H	1302	1427				ORPHA	1	705	2187	120290
HP:0002808	HP:0002947	Cervical kyphosis	1	COL11A2 CL E G H	1302	1427				ORPHA	1	974	2187	120290
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL11A2 CL E G H	1302	1427				ORPHA	1	705	2187	120290
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL11A2 CL E G H	1302	1427				ORPHA	1	974	2187	120290
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL12A1 CL E G H	1303	75840				ORPHA	1	1367	2188	120320
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL12A1 CL E G H	1303	75840				ORPHA	1	1678	2188	120320
HP:0002808	HP:0002947	Cervical kyphosis	1	COL12A1 CL E G H	1303	75840				ORPHA	1	1367	2188	120320
HP:0002808	HP:0002947	Cervical kyphosis	1	COL12A1 CL E G H	1303	75840				ORPHA	1	1678	2188	120320
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL12A1 CL E G H	1303	75840				ORPHA	1	1367	2188	120320
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL12A1 CL E G H	1303	75840				ORPHA	1	1678	2188	120320
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL12A1 CL E G H	1303	616471	Bethlem myopathy 2	616471	C4225313	OMIM	1	1367	2188	120320
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL12A1 CL E G H	1303	616471	Bethlem myopathy 2	616471	C4225313	OMIM	1	1678	2188	120320
HP:0002808	HP:0002947	Cervical kyphosis	1	COL12A1 CL E G H	1303	616471	Bethlem myopathy 2	616471	C4225313	OMIM	1	1367	2188	120320
HP:0002808	HP:0002947	Cervical kyphosis	1	COL12A1 CL E G H	1303	616471	Bethlem myopathy 2	616471	C4225313	OMIM	1	1678	2188	120320
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL12A1 CL E G H	1303	616471	Bethlem myopathy 2	616471	C4225313	OMIM	1	1367	2188	120320
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL12A1 CL E G H	1303	616471	Bethlem myopathy 2	616471	C4225313	OMIM	1	1678	2188	120320
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL1A1 CL E G H	1277	130060	Ehlers-Danlos syndrome, procollagen proteinase deficient	130060	C0268345	OMIM	1	1397	2197	120150
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL1A1 CL E G H	1277	130060	Ehlers-Danlos syndrome, procollagen proteinase deficient	130060	C0268345	OMIM	1	1655	2197	120150
HP:0002808	HP:0002947	Cervical kyphosis	1	COL1A1 CL E G H	1277	130060	Ehlers-Danlos syndrome, procollagen proteinase deficient	130060	C0268345	OMIM	1	1397	2197	120150
HP:0002808	HP:0002947	Cervical kyphosis	1	COL1A1 CL E G H	1277	130060	Ehlers-Danlos syndrome, procollagen proteinase deficient	130060	C0268345	OMIM	1	1655	2197	120150
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL1A1 CL E G H	1277	130060	Ehlers-Danlos syndrome, procollagen proteinase deficient	130060	C0268345	OMIM	1	1397	2197	120150
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL1A1 CL E G H	1277	130060	Ehlers-Danlos syndrome, procollagen proteinase deficient	130060	C0268345	OMIM	1	1655	2197	120150
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL1A1 CL E G H	1277	259420	Osteogenesis imperfecta type III	259420	C0268362	OMIM	1	1397	2197	120150
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL1A1 CL E G H	1277	259420	Osteogenesis imperfecta type III	259420	C0268362	OMIM	1	1655	2197	120150
HP:0002808	HP:0002947	Cervical kyphosis	1	COL1A1 CL E G H	1277	259420	Osteogenesis imperfecta type III	259420	C0268362	OMIM	1	1397	2197	120150
HP:0002808	HP:0002947	Cervical kyphosis	1	COL1A1 CL E G H	1277	259420	Osteogenesis imperfecta type III	259420	C0268362	OMIM	1	1655	2197	120150
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL1A1 CL E G H	1277	259420	Osteogenesis imperfecta type III	259420	C0268362	OMIM	1	1397	2197	120150
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL1A1 CL E G H	1277	259420	Osteogenesis imperfecta type III	259420	C0268362	OMIM	1	1655	2197	120150
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL1A1 CL E G H	1277	166220	Osteogenesis imperfecta with normal sclerae, dominant form	166220	C0268363	OMIM	1	1397	2197	120150
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL1A1 CL E G H	1277	166220	Osteogenesis imperfecta with normal sclerae, dominant form	166220	C0268363	OMIM	1	1655	2197	120150
HP:0002808	HP:0002947	Cervical kyphosis	1	COL1A1 CL E G H	1277	166220	Osteogenesis imperfecta with normal sclerae, dominant form	166220	C0268363	OMIM	1	1397	2197	120150
HP:0002808	HP:0002947	Cervical kyphosis	1	COL1A1 CL E G H	1277	166220	Osteogenesis imperfecta with normal sclerae, dominant form	166220	C0268363	OMIM	1	1655	2197	120150
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL1A1 CL E G H	1277	166220	Osteogenesis imperfecta with normal sclerae, dominant form	166220	C0268363	OMIM	1	1397	2197	120150
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL1A1 CL E G H	1277	166220	Osteogenesis imperfecta with normal sclerae, dominant form	166220	C0268363	OMIM	1	1655	2197	120150
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL1A2 CL E G H	1278	617821	EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2	617821	CN706304	OMIM	1	1042	2198	120160
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL1A2 CL E G H	1278	617821	EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2	617821	CN706304	OMIM	1	1203	2198	120160
HP:0002808	HP:0002947	Cervical kyphosis	1	COL1A2 CL E G H	1278	617821	EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2	617821	CN706304	OMIM	1	1042	2198	120160
HP:0002808	HP:0002947	Cervical kyphosis	1	COL1A2 CL E G H	1278	617821	EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2	617821	CN706304	OMIM	1	1203	2198	120160
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL1A2 CL E G H	1278	617821	EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2	617821	CN706304	OMIM	1	1042	2198	120160
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL1A2 CL E G H	1278	617821	EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2	617821	CN706304	OMIM	1	1203	2198	120160
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL1A2 CL E G H	1278	259420	Osteogenesis imperfecta type III	259420	C0268362	OMIM	1	1042	2198	120160
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL1A2 CL E G H	1278	259420	Osteogenesis imperfecta type III	259420	C0268362	OMIM	1	1203	2198	120160
HP:0002808	HP:0002947	Cervical kyphosis	1	COL1A2 CL E G H	1278	259420	Osteogenesis imperfecta type III	259420	C0268362	OMIM	1	1042	2198	120160
HP:0002808	HP:0002947	Cervical kyphosis	1	COL1A2 CL E G H	1278	259420	Osteogenesis imperfecta type III	259420	C0268362	OMIM	1	1203	2198	120160
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL1A2 CL E G H	1278	259420	Osteogenesis imperfecta type III	259420	C0268362	OMIM	1	1042	2198	120160
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL1A2 CL E G H	1278	259420	Osteogenesis imperfecta type III	259420	C0268362	OMIM	1	1203	2198	120160
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL1A2 CL E G H	1278	166220	Osteogenesis imperfecta with normal sclerae, dominant form	166220	C0268363	OMIM	1	1042	2198	120160
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL1A2 CL E G H	1278	166220	Osteogenesis imperfecta with normal sclerae, dominant form	166220	C0268363	OMIM	1	1203	2198	120160
HP:0002808	HP:0002947	Cervical kyphosis	1	COL1A2 CL E G H	1278	166220	Osteogenesis imperfecta with normal sclerae, dominant form	166220	C0268363	OMIM	1	1042	2198	120160
HP:0002808	HP:0002947	Cervical kyphosis	1	COL1A2 CL E G H	1278	166220	Osteogenesis imperfecta with normal sclerae, dominant form	166220	C0268363	OMIM	1	1203	2198	120160
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL1A2 CL E G H	1278	166220	Osteogenesis imperfecta with normal sclerae, dominant form	166220	C0268363	OMIM	1	1042	2198	120160
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL1A2 CL E G H	1278	166220	Osteogenesis imperfecta with normal sclerae, dominant form	166220	C0268363	OMIM	1	1203	2198	120160
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL2A1 CL E G H	1280	485				ORPHA	1	1213	2200	120140
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL2A1 CL E G H	1280	485				ORPHA	1	1540	2200	120140
HP:0002808	HP:0002947	Cervical kyphosis	1	COL2A1 CL E G H	1280	485				ORPHA	1	1213	2200	120140
HP:0002808	HP:0002947	Cervical kyphosis	1	COL2A1 CL E G H	1280	485				ORPHA	1	1540	2200	120140
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL2A1 CL E G H	1280	485				ORPHA	1	1213	2200	120140
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL2A1 CL E G H	1280	485				ORPHA	1	1540	2200	120140
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL2A1 CL E G H	1280	93346				ORPHA	1	1213	2200	120140
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL2A1 CL E G H	1280	93346				ORPHA	1	1540	2200	120140
HP:0002808	HP:0002947	Cervical kyphosis	1	COL2A1 CL E G H	1280	93346				ORPHA	1	1213	2200	120140
HP:0002808	HP:0002947	Cervical kyphosis	1	COL2A1 CL E G H	1280	93346				ORPHA	1	1540	2200	120140
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL2A1 CL E G H	1280	93346				ORPHA	1	1213	2200	120140
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL2A1 CL E G H	1280	93346				ORPHA	1	1540	2200	120140
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL2A1 CL E G H	1280	183900	Spondyloepiphyseal dysplasia	183900	C0038015	OMIM	1	1213	2200	120140
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL2A1 CL E G H	1280	183900	Spondyloepiphyseal dysplasia	183900	C0038015	OMIM	1	1540	2200	120140
HP:0002808	HP:0002947	Cervical kyphosis	1	COL2A1 CL E G H	1280	183900	Spondyloepiphyseal dysplasia	183900	C0038015	OMIM	1	1213	2200	120140
HP:0002808	HP:0002947	Cervical kyphosis	1	COL2A1 CL E G H	1280	183900	Spondyloepiphyseal dysplasia	183900	C0038015	OMIM	1	1540	2200	120140
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL2A1 CL E G H	1280	183900	Spondyloepiphyseal dysplasia	183900	C0038015	OMIM	1	1213	2200	120140
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL2A1 CL E G H	1280	183900	Spondyloepiphyseal dysplasia	183900	C0038015	OMIM	1	1540	2200	120140
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL2A1 CL E G H	1280	271700	Spondyloperipheral dysplasia	271700	C0796173	OMIM	1	1213	2200	120140
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL2A1 CL E G H	1280	271700	Spondyloperipheral dysplasia	271700	C0796173	OMIM	1	1540	2200	120140
HP:0002808	HP:0002947	Cervical kyphosis	1	COL2A1 CL E G H	1280	271700	Spondyloperipheral dysplasia	271700	C0796173	OMIM	1	1213	2200	120140
HP:0002808	HP:0002947	Cervical kyphosis	1	COL2A1 CL E G H	1280	271700	Spondyloperipheral dysplasia	271700	C0796173	OMIM	1	1540	2200	120140
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL2A1 CL E G H	1280	271700	Spondyloperipheral dysplasia	271700	C0796173	OMIM	1	1213	2200	120140
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL2A1 CL E G H	1280	271700	Spondyloperipheral dysplasia	271700	C0796173	OMIM	1	1540	2200	120140
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL2A1 CL E G H	1280	108300	Stickler syndrome type 1	108300	C2020284	OMIM	1	1213	2200	120140
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL2A1 CL E G H	1280	108300	Stickler syndrome type 1	108300	C2020284	OMIM	1	1540	2200	120140
HP:0002808	HP:0002947	Cervical kyphosis	1	COL2A1 CL E G H	1280	108300	Stickler syndrome type 1	108300	C2020284	OMIM	1	1213	2200	120140
HP:0002808	HP:0002947	Cervical kyphosis	1	COL2A1 CL E G H	1280	108300	Stickler syndrome type 1	108300	C2020284	OMIM	1	1540	2200	120140
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL2A1 CL E G H	1280	108300	Stickler syndrome type 1	108300	C2020284	OMIM	1	1213	2200	120140
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL2A1 CL E G H	1280	108300	Stickler syndrome type 1	108300	C2020284	OMIM	1	1540	2200	120140
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL6A1 CL E G H	1291	75840				ORPHA	1	1219	2211	120220
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL6A1 CL E G H	1291	75840				ORPHA	1	1342	2211	120220
HP:0002808	HP:0002947	Cervical kyphosis	1	COL6A1 CL E G H	1291	75840				ORPHA	1	1219	2211	120220
HP:0002808	HP:0002947	Cervical kyphosis	1	COL6A1 CL E G H	1291	75840				ORPHA	1	1342	2211	120220
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL6A1 CL E G H	1291	75840				ORPHA	1	1219	2211	120220
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL6A1 CL E G H	1291	75840				ORPHA	1	1342	2211	120220
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL6A1 CL E G H	1291	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1219	2211	120220
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL6A1 CL E G H	1291	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1342	2211	120220
HP:0002808	HP:0002947	Cervical kyphosis	1	COL6A1 CL E G H	1291	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1219	2211	120220
HP:0002808	HP:0002947	Cervical kyphosis	1	COL6A1 CL E G H	1291	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1342	2211	120220
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL6A1 CL E G H	1291	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1219	2211	120220
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL6A1 CL E G H	1291	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1342	2211	120220
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL6A2 CL E G H	1292	75840				ORPHA	1	1370	2212	120240
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL6A2 CL E G H	1292	75840				ORPHA	1	1512	2212	120240
HP:0002808	HP:0002947	Cervical kyphosis	1	COL6A2 CL E G H	1292	75840				ORPHA	1	1370	2212	120240
HP:0002808	HP:0002947	Cervical kyphosis	1	COL6A2 CL E G H	1292	75840				ORPHA	1	1512	2212	120240
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL6A2 CL E G H	1292	75840				ORPHA	1	1370	2212	120240
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL6A2 CL E G H	1292	75840				ORPHA	1	1512	2212	120240
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL6A2 CL E G H	1292	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1370	2212	120240
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL6A2 CL E G H	1292	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1512	2212	120240
HP:0002808	HP:0002947	Cervical kyphosis	1	COL6A2 CL E G H	1292	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1370	2212	120240
HP:0002808	HP:0002947	Cervical kyphosis	1	COL6A2 CL E G H	1292	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1512	2212	120240
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL6A2 CL E G H	1292	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1370	2212	120240
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL6A2 CL E G H	1292	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1512	2212	120240
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL6A3 CL E G H	1293	75840				ORPHA	1	1971	2213	120250
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL6A3 CL E G H	1293	75840				ORPHA	1	2233	2213	120250
HP:0002808	HP:0002947	Cervical kyphosis	1	COL6A3 CL E G H	1293	75840				ORPHA	1	1971	2213	120250
HP:0002808	HP:0002947	Cervical kyphosis	1	COL6A3 CL E G H	1293	75840				ORPHA	1	2233	2213	120250
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL6A3 CL E G H	1293	75840				ORPHA	1	1971	2213	120250
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL6A3 CL E G H	1293	75840				ORPHA	1	2233	2213	120250
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL6A3 CL E G H	1293	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1971	2213	120250
HP:0002808	HP:0002942	Thoracic kyphosis	1	COL6A3 CL E G H	1293	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	2233	2213	120250
HP:0002808	HP:0002947	Cervical kyphosis	1	COL6A3 CL E G H	1293	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1971	2213	120250
HP:0002808	HP:0002947	Cervical kyphosis	1	COL6A3 CL E G H	1293	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	2233	2213	120250
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL6A3 CL E G H	1293	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1971	2213	120250
HP:0002808	HP:0002751	Kyphoscoliosis	1	COL6A3 CL E G H	1293	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	2233	2213	120250
HP:0002808	HP:0002942	Thoracic kyphosis	1	COMP CL E G H	1311	177170	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	177170	C0410538	OMIM	1	287	2227	600310
HP:0002808	HP:0002942	Thoracic kyphosis	1	COMP CL E G H	1311	177170	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	177170	C0410538	OMIM	1	375	2227	600310
HP:0002808	HP:0002947	Cervical kyphosis	1	COMP CL E G H	1311	177170	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	177170	C0410538	OMIM	1	287	2227	600310
HP:0002808	HP:0002947	Cervical kyphosis	1	COMP CL E G H	1311	177170	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	177170	C0410538	OMIM	1	375	2227	600310
HP:0002808	HP:0002751	Kyphoscoliosis	1	COMP CL E G H	1311	177170	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	177170	C0410538	OMIM	1	287	2227	600310
HP:0002808	HP:0002751	Kyphoscoliosis	1	COMP CL E G H	1311	177170	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	177170	C0410538	OMIM	1	375	2227	600310
HP:0002808	HP:0002942	Thoracic kyphosis	1	CPLX1 CL E G