Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002758	HP:0002758	Osteoarthritis	0	ACAN CL E G H	176	319	OMIM:165800	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	.		34
HP:0002758	HP:0002758	Osteoarthritis	0	ACAN CL E G H	176	319	ORPHA:435804	Short stature-advanced bone age-early-onset osteoarthritis syndrome	HP:0040283 - Occasional		34
HP:0002758	HP:0002758	Osteoarthritis	0	ACAN CL E G H	176	319	ORPHA:93283	Spondyloepiphyseal dysplasia, Kimberley type	HP:0040281 - Very frequent		34
HP:0002758	HP:0002758	Osteoarthritis	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0002758	HP:0002758	Osteoarthritis	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040281 - Very frequent		95
HP:0002758	HP:0002758	Osteoarthritis	0	ANKH CL E G H	56172	15492	OMIM:118600	Chondrocalcinosis 2	.		164
HP:0002758	HP:0002758	Osteoarthritis	0	ANKH CL E G H	56172	15492	ORPHA:1416	Familial calcium pyrophosphate deposition	HP:0040282 - Frequent		164
HP:0002758	HP:0002758	Osteoarthritis	0	ANKRD55 CL E G H	79722	25681	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0002758	HP:0002758	Osteoarthritis	0	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0002758	HP:0002758	Osteoarthritis	0	ASPN CL E G H	54829	14872	OMIM:607850	Hand osteoarthritis	.		2
HP:0002758	HP:0002758	Osteoarthritis	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.		315
HP:0002758	HP:0002758	Osteoarthritis	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.		85
HP:0002758	HP:0002758	Osteoarthritis	0	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood	.
HP:0002758	HP:0002758	Osteoarthritis	0	CD247 CL E G H	919	1677	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			8
HP:0002758	HP:0002758	Osteoarthritis	0	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			8
HP:0002758	HP:0002758	Osteoarthritis	0	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis	HP:0040281 - Very frequent		102
HP:0002758	HP:0002758	Osteoarthritis	0	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2			102
HP:0002758	HP:0002758	Osteoarthritis	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0002758	HP:0002758	Osteoarthritis	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040282 - Frequent		215
HP:0002758	HP:0002758	Osteoarthritis	0	COL11A2 CL E G H	1302	2187	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia	HP:0040282 - Frequent		222
HP:0002758	HP:0002758	Osteoarthritis	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040283 - Occasional		222
HP:0002758	HP:0002758	Osteoarthritis	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia			222
HP:0002758	HP:0002758	Osteoarthritis	0	COL11A2 CL E G H	1302	2187	OMIM:184840	Stickler syndrome, type III			222
HP:0002758	HP:0002758	Osteoarthritis	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		373
HP:0002758	HP:0002758	Osteoarthritis	0	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1			373
HP:0002758	HP:0002758	Osteoarthritis	0	COL2A1 CL E G H	1280	2200	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia	HP:0040282 - Frequent		284
HP:0002758	HP:0002758	Osteoarthritis	0	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis	HP:0040282 - Frequent		284
HP:0002758	HP:0002758	Osteoarthritis	0	COL2A1 CL E G H	1280	2200	ORPHA:86820	Familial avascular necrosis of femoral head			284
HP:0002758	HP:0002758	Osteoarthritis	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040282 - Frequent		284
HP:0002758	HP:0002758	Osteoarthritis	0	COL2A1 CL E G H	1280	2200	OMIM:604864	Osteoarthritis with mild chondrodysplasia			284
HP:0002758	HP:0002758	Osteoarthritis	0	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1	HP:0040282 - Frequent		284
HP:0002758	HP:0002758	Osteoarthritis	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I			284
HP:0002758	HP:0002758	Osteoarthritis	0	COL2A1 CL E G H	1280	2200	OMIM:619248	VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA; VPED			284
HP:0002758	HP:0002758	Osteoarthritis	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional		749
HP:0002758	HP:0002758	Osteoarthritis	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		660
HP:0002758	HP:0002758	Osteoarthritis	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I	.		660
HP:0002758	HP:0002758	Osteoarthritis	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		325
HP:0002758	HP:0002758	Osteoarthritis	0	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6			110
HP:0002758	HP:0002758	Osteoarthritis	0	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional		110
HP:0002758	HP:0002758	Osteoarthritis	0	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2			110
HP:0002758	HP:0002758	Osteoarthritis	0	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional		110
HP:0002758	HP:0002758	Osteoarthritis	0	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy	.		137
HP:0002758	HP:0002758	Osteoarthritis	0	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional		137
HP:0002758	HP:0002758	Osteoarthritis	0	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1			89
HP:0002758	HP:0002758	Osteoarthritis	0	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1	HP:0040283 - Occasional		89
HP:0002758	HP:0002758	Osteoarthritis	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040282 - Frequent		89
HP:0002758	HP:0002758	Osteoarthritis	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia			89
HP:0002758	HP:0002758	Osteoarthritis	0	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0002758	HP:0002758	Osteoarthritis	0	EMILIN1 CL E G H	11117	19880	OMIM:620080				2
HP:0002758	HP:0002758	Osteoarthritis	0	F8 CL E G H	2157	3546	OMIM:306700	Hemophilia A	.		303
HP:0002758	HP:0002758	Osteoarthritis	0	F9 CL E G H	2158	3551	OMIM:306900	Hemophilia B	.		143
HP:0002758	HP:0002758	Osteoarthritis	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0002758	HP:0002758	Osteoarthritis	0	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia	HP:0040283 - Occasional		145
HP:0002758	HP:0002758	Osteoarthritis	0	FRZB CL E G H	2487	3959	OMIM:165720	Osteoarthritis susceptibility 1			2
HP:0002758	HP:0002758	Osteoarthritis	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional
HP:0002758	HP:0002758	Osteoarthritis	0	GDF5 CL E G H	8200	4220	ORPHA:63442	Angel-shaped phalango-epiphyseal dysplasia			52
HP:0002758	HP:0002758	Osteoarthritis	0	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome	HP:0040283 - Occasional		98
HP:0002758	HP:0002758	Osteoarthritis	0	GNAS CL E G H	2778	4392	ORPHA:2762	Progressive osseous heteroplasia	HP:0040283 - Occasional		101
HP:0002758	HP:0002758	Osteoarthritis	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040281 - Very frequent		5
HP:0002758	HP:0002758	Osteoarthritis	0	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria	HP:0040281 - Very frequent		77
HP:0002758	HP:0002758	Osteoarthritis	0	HLA-B CL E G H	3106	4932	OMIM:106300	Spondyloarthropathy, susceptibility to, 1			4
HP:0002758	HP:0002758	Osteoarthritis	0	HPGD CL E G H	3248	5154	ORPHA:1525	Cranio-osteoarthropathy	HP:0040282 - Frequent		55
HP:0002758	HP:0002758	Osteoarthritis	0	IL2RA CL E G H	3559	6008	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			65
HP:0002758	HP:0002758	Osteoarthritis	0	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			65
HP:0002758	HP:0002758	Osteoarthritis	0	IL2RB CL E G H	3560	6009	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0002758	HP:0002758	Osteoarthritis	0	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0002758	HP:0002758	Osteoarthritis	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0002758	HP:0002758	Osteoarthritis	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		645
HP:0002758	HP:0002758	Osteoarthritis	0	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5			32
HP:0002758	HP:0002758	Osteoarthritis	0	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5			32
HP:0002758	HP:0002758	Osteoarthritis	0	MATN3 CL E G H	4148	6909	OMIM:140600	Osteoarthritis of distal interphalangeal joints	.		32
HP:0002758	HP:0002758	Osteoarthritis	0	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040283 - Occasional		281
HP:0002758	HP:0002758	Osteoarthritis	0	MIR140 CL E G H	406932	31527	OMIM:618618	SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN
HP:0002758	HP:0002758	Osteoarthritis	0	MMP13 CL E G H	4322	7159	ORPHA:93356	Spondyloepimetaphyseal dysplasia, Missouri type			52
HP:0002758	HP:0002758	Osteoarthritis	0	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type	.		52
HP:0002758	HP:0002758	Osteoarthritis	0	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.		217
HP:0002758	HP:0002758	Osteoarthritis	0	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0002758	HP:0002758	Osteoarthritis	0	PTPN2 CL E G H	5771	9650	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0002758	HP:0002758	Osteoarthritis	0	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0002758	HP:0002758	Osteoarthritis	0	PTPN22 CL E G H	26191	9652	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			3
HP:0002758	HP:0002758	Osteoarthritis	0	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			3
HP:0002758	HP:0002758	Osteoarthritis	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional		77
HP:0002758	HP:0002758	Osteoarthritis	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0002758	HP:0002758	Osteoarthritis	0	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4			56
HP:0002758	HP:0002758	Osteoarthritis	0	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6			7
HP:0002758	HP:0002758	Osteoarthritis	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent		260
HP:0002758	HP:0002758	Osteoarthritis	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0002758	HP:0002758	Osteoarthritis	0	STAT4 CL E G H	6775	11365	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			2
HP:0002758	HP:0002758	Osteoarthritis	0	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			2
HP:0002758	HP:0002758	Osteoarthritis	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0002758	HP:0002758	Osteoarthritis	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0002758	HP:0002758	Osteoarthritis	0	TNFRSF11B CL E G H	4982	11909	ORPHA:1416	Familial calcium pyrophosphate deposition	HP:0040282 - Frequent		44
HP:0002758	HP:0002758	Osteoarthritis	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda			46
HP:0002758	HP:0002758	Osteoarthritis	0	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked			46
HP:0002758	HP:0002758	Osteoarthritis	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	HP:0003584 - Late onset	171
HP:0002758	HP:0002758	Osteoarthritis	0	TRPV4 CL E G H	59341	18083	ORPHA:86820	Familial avascular necrosis of femoral head			214
HP:0002758	HP:0002758	Osteoarthritis	0	TRPV4 CL E G H	59341	18083	ORPHA:85169	Familial digital arthropathy-brachydactyly			214
HP:0002758	HP:0002758	Osteoarthritis	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0002758	HP:0002758	Osteoarthritis	0	UFSP2 CL E G H	55325	25640	ORPHA:2114	Hip dysplasia, Beukes type	HP:0040281 - Very frequent		2
HP:0002758	HP:0002758	Osteoarthritis	0	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type	.		2
HP:0002758	HP:0002758	Osteoarthritis	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		83
HP:0002758	HP:0002758	Osteoarthritis	0	ZNF687 CL E G H	57592	29277	OMIM:616833	Paget disease of bone 6			2
HP:0002758	HP:0008843	Hip osteoarthritis	1	ACAN CL E G H	176	319	OMIM:165800	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	.		34
HP:0002758	HP:0005086	Knee osteoarthritis	1	ANKRD55 CL E G H	79722	25681	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0002758	HP:0008843	Hip osteoarthritis	1	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0002758	HP:0005086	Knee osteoarthritis	1	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0002758	HP:0004268	Osteoarthritis of the small joints of the hand	1	ASPN CL E G H	54829	14872	OMIM:607850	Hand osteoarthritis			2
HP:0002758	HP:0005086	Knee osteoarthritis	1	CD247 CL E G H	919	1677	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		8
HP:0002758	HP:0008843	Hip osteoarthritis	1	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		8
HP:0002758	HP:0005086	Knee osteoarthritis	1	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		8
HP:0002758	HP:0008843	Hip osteoarthritis	1	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2	.		102
HP:0002758	HP:0005086	Knee osteoarthritis	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0002758	HP:0003088	Premature osteoarthritis	1	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.		222
HP:0002758	HP:0003088	Premature osteoarthritis	1	COL11A2 CL E G H	1302	2187	OMIM:184840	Stickler syndrome, type III	.		222
HP:0002758	HP:0003088	Premature osteoarthritis	1	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1	.		373
HP:0002758	HP:0008843	Hip osteoarthritis	1	COL2A1 CL E G H	1280	2200	ORPHA:86820	Familial avascular necrosis of femoral head	HP:0040282 - Frequent		284
HP:0002758	HP:0005086	Knee osteoarthritis	1	COL2A1 CL E G H	1280	2200	OMIM:604864	Osteoarthritis with mild chondrodysplasia	.		284
HP:0002758	HP:0008843	Hip osteoarthritis	1	COL2A1 CL E G H	1280	2200	OMIM:604864	Osteoarthritis with mild chondrodysplasia	.		284
HP:0002758	HP:0008843	Hip osteoarthritis	1	COL2A1 CL E G H	1280	2200	OMIM:619248	VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA; VPED			284
HP:0002758	HP:0005086	Knee osteoarthritis	1	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2	.		110
HP:0002758	HP:0008843	Hip osteoarthritis	1	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1	.		89
HP:0002758	HP:0003088	Premature osteoarthritis	1	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040282 - Frequent
HP:0002758	HP:0003088	Premature osteoarthritis	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	.		1361
HP:0002758	HP:0008843	Hip osteoarthritis	1	FRZB CL E G H	2487	3959	OMIM:165720	Osteoarthritis susceptibility 1			2
HP:0002758	HP:0008843	Hip osteoarthritis	1	GDF5 CL E G H	8200	4220	ORPHA:63442	Angel-shaped phalango-epiphyseal dysplasia	HP:0040282 - Frequent		52
HP:0002758	HP:0008843	Hip osteoarthritis	1	HLA-B CL E G H	3106	4932	OMIM:106300	Spondyloarthropathy, susceptibility to, 1	.		4
HP:0002758	HP:0012317	Sacroiliac arthritis	1	HLA-B CL E G H	3106	4932	OMIM:106300	Spondyloarthropathy, susceptibility to, 1	.		4
HP:0002758	HP:0005086	Knee osteoarthritis	1	IL2RA CL E G H	3559	6008	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		65
HP:0002758	HP:0005086	Knee osteoarthritis	1	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		65
HP:0002758	HP:0008843	Hip osteoarthritis	1	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		65
HP:0002758	HP:0005086	Knee osteoarthritis	1	IL2RB CL E G H	3560	6009	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0002758	HP:0008843	Hip osteoarthritis	1	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0002758	HP:0005086	Knee osteoarthritis	1	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0002758	HP:0003088	Premature osteoarthritis	1	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040282 - Frequent		14
HP:0002758	HP:0003088	Premature osteoarthritis	1	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5	.		32
HP:0002758	HP:0003088	Premature osteoarthritis	1	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040282 - Frequent		32
HP:0002758	HP:0004268	Osteoarthritis of the small joints of the hand	1	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040283 - Occasional		32
HP:0002758	HP:0005086	Knee osteoarthritis	1	MMP13 CL E G H	4322	7159	ORPHA:93356	Spondyloepimetaphyseal dysplasia, Missouri type	HP:0040282 - Frequent		52
HP:0002758	HP:0005086	Knee osteoarthritis	1	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0002758	HP:0003940	Osteoarthritis of the elbow	1	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0002758	HP:0005086	Knee osteoarthritis	1	PTPN2 CL E G H	5771	9650	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0002758	HP:0005086	Knee osteoarthritis	1	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0002758	HP:0008843	Hip osteoarthritis	1	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0002758	HP:0005086	Knee osteoarthritis	1	PTPN22 CL E G H	26191	9652	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		3
HP:0002758	HP:0008843	Hip osteoarthritis	1	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		3
HP:0002758	HP:0005086	Knee osteoarthritis	1	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		3
HP:0002758	HP:0003088	Premature osteoarthritis	1	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040282 - Frequent		166
HP:0002758	HP:0005086	Knee osteoarthritis	1	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6			7
HP:0002758	HP:0008843	Hip osteoarthritis	1	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6			7
HP:0002758	HP:0005086	Knee osteoarthritis	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent		260
HP:0002758	HP:0004268	Osteoarthritis of the small joints of the hand	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent		260
HP:0002758	HP:0005086	Knee osteoarthritis	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0002758	HP:0008843	Hip osteoarthritis	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0002758	HP:0005086	Knee osteoarthritis	1	STAT4 CL E G H	6775	11365	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		2
HP:0002758	HP:0008843	Hip osteoarthritis	1	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		2
HP:0002758	HP:0005086	Knee osteoarthritis	1	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		2
HP:0002758	HP:0003088	Premature osteoarthritis	1	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040281 - Very frequent		46
HP:0002758	HP:0005086	Knee osteoarthritis	1	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040282 - Frequent		46
HP:0002758	HP:0004268	Osteoarthritis of the small joints of the hand	1	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda			46
HP:0002758	HP:0008843	Hip osteoarthritis	1	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040282 - Frequent		46
HP:0002758	HP:0008843	Hip osteoarthritis	1	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked	.		46
HP:0002758	HP:0008843	Hip osteoarthritis	1	TRPV4 CL E G H	59341	18083	ORPHA:86820	Familial avascular necrosis of femoral head	HP:0040282 - Frequent		214
HP:0002758	HP:0004268	Osteoarthritis of the small joints of the hand	1	TRPV4 CL E G H	59341	18083	ORPHA:85169	Familial digital arthropathy-brachydactyly	HP:0040281 - Very frequent		214
HP:0002758	HP:0003088	Premature osteoarthritis	1	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040282 - Frequent		214
HP:0002758	HP:0006226	Osteoarthritis of the first carpometacarpal joint	2	ASPN CL E G H	54829	14872	OMIM:607850	Hand osteoarthritis	.		2
HP:0002758	HP:0006233	Osteoarthritis of the distal interphalangeal joint	2	ASPN CL E G H	54829	14872	OMIM:607850	Hand osteoarthritis	.		2
HP:0002758	HP:0006233	Osteoarthritis of the distal interphalangeal joint	2	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040283 - Occasional		46