Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001387	HP:0001387	Joint stiffness	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent	72
HP:0001387	HP:0001387	Joint stiffness	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent	123
HP:0001387	HP:0001387	Joint stiffness	0	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040283 - Occasional	23
HP:0001387	HP:0001387	Joint stiffness	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1		63
HP:0001387	HP:0001387	Joint stiffness	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	165
HP:0001387	HP:0001387	Joint stiffness	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	72
HP:0001387	HP:0001387	Joint stiffness	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1		72
HP:0001387	HP:0001387	Joint stiffness	0	ADAMTSL4 CL E G H	54507	19706	ORPHA:1885	Isolated ectopia lentis	HP:0040281 - Very frequent	84
HP:0001387	HP:0001387	Joint stiffness	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040283 - Occasional	76
HP:0001387	HP:0001387	Joint stiffness	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0001387	HP:0001387	Joint stiffness	0	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome	HP:0040283 - Occasional	87
HP:0001387	HP:0001387	Joint stiffness	0	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0001387	HP:0001387	Joint stiffness	0	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent	49
HP:0001387	HP:0001387	Joint stiffness	0	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis	HP:0040283 - Occasional	49
HP:0001387	HP:0001387	Joint stiffness	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.	120
HP:0001387	HP:0001387	Joint stiffness	0	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040282 - Frequent	48
HP:0001387	HP:0001387	Joint stiffness	0	ASPN CL E G H	54829	14872	OMIM:607850	Hand osteoarthritis	.	2
HP:0001387	HP:0001387	Joint stiffness	0	ATAD1 CL E G H	84896	25903	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent
HP:0001387	HP:0001387	Joint stiffness	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040283 - Occasional	169
HP:0001387	HP:0001387	Joint stiffness	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome	.	22
HP:0001387	HP:0001387	Joint stiffness	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001387	HP:0001387	Joint stiffness	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001387	HP:0001387	Joint stiffness	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0001387	HP:0001387	Joint stiffness	0	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040281 - Very frequent	90
HP:0001387	HP:0001387	Joint stiffness	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0001387	HP:0001387	Joint stiffness	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001387	HP:0001387	Joint stiffness	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	3
HP:0001387	HP:0001387	Joint stiffness	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040282 - Frequent	242
HP:0001387	HP:0001387	Joint stiffness	0	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood	.
HP:0001387	HP:0001387	Joint stiffness	0	CD244 CL E G H	51744	18171	OMIM:180300	RHEUMATOID ARTHRITIS; RA		2
HP:0001387	HP:0001387	Joint stiffness	0	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	8
HP:0001387	HP:0001387	Joint stiffness	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0001387	HP:0001387	Joint stiffness	0	CIITA CL E G H	4261	7067	OMIM:180300	RHEUMATOID ARTHRITIS; RA		118
HP:0001387	HP:0001387	Joint stiffness	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional	3
HP:0001387	HP:0001387	Joint stiffness	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001387	HP:0001387	Joint stiffness	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	373
HP:0001387	HP:0001387	Joint stiffness	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	243
HP:0001387	HP:0001387	Joint stiffness	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040281 - Very frequent	284
HP:0001387	HP:0001387	Joint stiffness	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040283 - Occasional	284
HP:0001387	HP:0001387	Joint stiffness	0	COL2A1 CL E G H	1280	2200	OMIM:604864	Osteoarthritis with mild chondrodysplasia	.	284
HP:0001387	HP:0001387	Joint stiffness	0	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type	.	284
HP:0001387	HP:0001387	Joint stiffness	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I		284
HP:0001387	HP:0001387	Joint stiffness	0	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1	.	89
HP:0001387	HP:0001387	Joint stiffness	0	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1	HP:0040283 - Occasional	89
HP:0001387	HP:0001387	Joint stiffness	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040283 - Occasional	89
HP:0001387	HP:0001387	Joint stiffness	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040283 - Occasional	33
HP:0001387	HP:0001387	Joint stiffness	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0001387	HP:0001387	Joint stiffness	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001387	HP:0001387	Joint stiffness	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent	4
HP:0001387	HP:0001387	Joint stiffness	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001387	HP:0001387	Joint stiffness	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0001387	HP:0001387	Joint stiffness	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	107
HP:0001387	HP:0001387	Joint stiffness	0	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome	HP:0040281 - Very frequent	2
HP:0001387	HP:0001387	Joint stiffness	0	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome	HP:0040283 - Occasional	40
HP:0001387	HP:0001387	Joint stiffness	0	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	20
HP:0001387	HP:0001387	Joint stiffness	0	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	106
HP:0001387	HP:0001387	Joint stiffness	0	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	83
HP:0001387	HP:0001387	Joint stiffness	0	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	199
HP:0001387	HP:0001387	Joint stiffness	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent	81
HP:0001387	HP:0001387	Joint stiffness	0	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia	HP:0040283 - Occasional	1361
HP:0001387	HP:0001387	Joint stiffness	0	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2		1361
HP:0001387	HP:0001387	Joint stiffness	0	FBN1 CL E G H	2200	3603	ORPHA:1885	Isolated ectopia lentis	HP:0040281 - Very frequent	1361
HP:0001387	HP:0001387	Joint stiffness	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional	1361
HP:0001387	HP:0001387	Joint stiffness	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0001387	HP:0001387	Joint stiffness	0	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly	HP:0040281 - Very frequent	655
HP:0001387	HP:0001387	Joint stiffness	0	FGF9 CL E G H	2254	3687	ORPHA:3237	Multiple synostoses syndrome	HP:0040281 - Very frequent	75
HP:0001387	HP:0001387	Joint stiffness	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040283 - Occasional	145
HP:0001387	HP:0001387	Joint stiffness	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	68
HP:0001387	HP:0001387	Joint stiffness	0	FKBP10 CL E G H	60681	18169	ORPHA:2771	Bruck syndrome	HP:0040281 - Very frequent	61
HP:0001387	HP:0001387	Joint stiffness	0	FKBP10 CL E G H	60681	18169	ORPHA:1149	Kuskokwim syndrome	HP:0040281 - Very frequent	61
HP:0001387	HP:0001387	Joint stiffness	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001387	HP:0001387	Joint stiffness	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040283 - Occasional
HP:0001387	HP:0001387	Joint stiffness	0	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked	HP:0040284 - Very rare	493
HP:0001387	HP:0001387	Joint stiffness	0	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence	HP:0040282 - Frequent	3
HP:0001387	HP:0001387	Joint stiffness	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	10
HP:0001387	HP:0001387	Joint stiffness	0	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040281 - Very frequent	52
HP:0001387	HP:0001387	Joint stiffness	0	GDF5 CL E G H	8200	4220	ORPHA:968	Acromesomelic dysplasia, Hunter-Thompson type	HP:0040282 - Frequent	52
HP:0001387	HP:0001387	Joint stiffness	0	GDF5 CL E G H	8200	4220	ORPHA:3237	Multiple synostoses syndrome	HP:0040281 - Very frequent	52
HP:0001387	HP:0001387	Joint stiffness	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I	.	120
HP:0001387	HP:0001387	Joint stiffness	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II		120
HP:0001387	HP:0001387	Joint stiffness	0	GLRA1 CL E G H	2741	4326	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent	63
HP:0001387	HP:0001387	Joint stiffness	0	GLRB CL E G H	2743	4329	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent	46
HP:0001387	HP:0001387	Joint stiffness	0	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma	.	57
HP:0001387	HP:0001387	Joint stiffness	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.	69
HP:0001387	HP:0001387	Joint stiffness	0	GPHN CL E G H	10243	15465	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent	18
HP:0001387	HP:0001387	Joint stiffness	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001387	HP:0001387	Joint stiffness	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001387	HP:0001387	Joint stiffness	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001387	HP:0001387	Joint stiffness	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome	.
HP:0001387	HP:0001387	Joint stiffness	0	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7	HP:0040282 - Frequent	54
HP:0001387	HP:0001387	Joint stiffness	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII		54
HP:0001387	HP:0001387	Joint stiffness	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	37
HP:0001387	HP:0001387	Joint stiffness	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional	38
HP:0001387	HP:0001387	Joint stiffness	0	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria	HP:0040281 - Very frequent	77
HP:0001387	HP:0001387	Joint stiffness	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.	86
HP:0001387	HP:0001387	Joint stiffness	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent	4
HP:0001387	HP:0001387	Joint stiffness	0	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis	HP:0040281 - Very frequent	4
HP:0001387	HP:0001387	Joint stiffness	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent	2
HP:0001387	HP:0001387	Joint stiffness	0	HPGD CL E G H	3248	5154	ORPHA:1525	Cranio-osteoarthropathy	HP:0040282 - Frequent	55
HP:0001387	HP:0001387	Joint stiffness	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	345
HP:0001387	HP:0001387	Joint stiffness	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040281 - Very frequent	345
HP:0001387	HP:0001387	Joint stiffness	0	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease	HP:0040282 - Frequent	15
HP:0001387	HP:0001387	Joint stiffness	0	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease	HP:0040282 - Frequent	29
HP:0001387	HP:0001387	Joint stiffness	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	115
HP:0001387	HP:0001387	Joint stiffness	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome	.	115
HP:0001387	HP:0001387	Joint stiffness	0	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome	HP:0040283 - Occasional	115
HP:0001387	HP:0001387	Joint stiffness	0	IL10 CL E G H	3586	5962	OMIM:180300	RHEUMATOID ARTHRITIS; RA		2
HP:0001387	HP:0001387	Joint stiffness	0	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	65
HP:0001387	HP:0001387	Joint stiffness	0	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0001387	HP:0001387	Joint stiffness	0	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia	HP:0040283 - Occasional	18
HP:0001387	HP:0001387	Joint stiffness	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040283 - Occasional	119
HP:0001387	HP:0001387	Joint stiffness	0	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome	HP:0040281 - Very frequent	99
HP:0001387	HP:0001387	Joint stiffness	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	1
HP:0001387	HP:0001387	Joint stiffness	0	KRT83 CL E G H	3889	6460	OMIM:617756	Erythrokeratodermia variabilis et progressiva 5	.	65
HP:0001387	HP:0001387	Joint stiffness	0	L1CAM CL E G H	3897	6470	ORPHA:2182	Hydrocephalus with stenosis of the aqueduct of Sylvius	HP:0040283 - Occasional	134
HP:0001387	HP:0001387	Joint stiffness	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040282 - Frequent	68
HP:0001387	HP:0001387	Joint stiffness	0	LEMD3 CL E G H	23592	28887	OMIM:166700	Buschke-Ollendorff syndrome	.	68
HP:0001387	HP:0001387	Joint stiffness	0	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis		68
HP:0001387	HP:0001387	Joint stiffness	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001387	HP:0001387	Joint stiffness	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	645
HP:0001387	HP:0001387	Joint stiffness	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	645
HP:0001387	HP:0001387	Joint stiffness	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0001387	HP:0001387	Joint stiffness	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.	645
HP:0001387	HP:0001387	Joint stiffness	0	LTBP2 CL E G H	4053	6715	OMIM:614819	Weill-Marchesani syndrome 3	.	123
HP:0001387	HP:0001387	Joint stiffness	0	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia	HP:0040283 - Occasional	12
HP:0001387	HP:0001387	Joint stiffness	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001387	HP:0001387	Joint stiffness	0	MACROH2A1 CL E G H	9555	4740	ORPHA:1275	Brachydactyly-elbow wrist dysplasia syndrome	HP:0040281 - Very frequent
HP:0001387	HP:0001387	Joint stiffness	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0001387	HP:0001387	Joint stiffness	0	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040283 - Occasional	32
HP:0001387	HP:0001387	Joint stiffness	0	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome	HP:0040283 - Occasional	950
HP:0001387	HP:0001387	Joint stiffness	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001387	HP:0001387	Joint stiffness	0	MFN2 CL E G H	9927	16877	ORPHA:2398	Multiple symmetric lipomatosis	HP:0040281 - Very frequent	203
HP:0001387	HP:0001387	Joint stiffness	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001387	HP:0001387	Joint stiffness	0	MMP13 CL E G H	4322	7159	ORPHA:1040	Metaphyseal anadysplasia	HP:0040281 - Very frequent	52
HP:0001387	HP:0001387	Joint stiffness	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001387	HP:0001387	Joint stiffness	0	MMP9 CL E G H	4318	7176	ORPHA:1040	Metaphyseal anadysplasia	HP:0040281 - Very frequent	31
HP:0001387	HP:0001387	Joint stiffness	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001387	HP:0001387	Joint stiffness	0	MYBPC1 CL E G H	4604	7549	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent	66
HP:0001387	HP:0001387	Joint stiffness	0	MYH3 CL E G H	4621	7573	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent	166
HP:0001387	HP:0001387	Joint stiffness	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent	166
HP:0001387	HP:0001387	Joint stiffness	0	MYH3 CL E G H	4621	7573	ORPHA:1147	Sheldon-Hall syndrome	HP:0040281 - Very frequent	166
HP:0001387	HP:0001387	Joint stiffness	0	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.	72
HP:0001387	HP:0001387	Joint stiffness	0	NALCN CL E G H	259232	19082	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent	48
HP:0001387	HP:0001387	Joint stiffness	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent	48
HP:0001387	HP:0001387	Joint stiffness	0	NALCN CL E G H	259232	19082	ORPHA:1147	Sheldon-Hall syndrome	HP:0040281 - Very frequent	48
HP:0001387	HP:0001387	Joint stiffness	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0001387	HP:0001387	Joint stiffness	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly		96
HP:0001387	HP:0001387	Joint stiffness	0	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8		22
HP:0001387	HP:0001387	Joint stiffness	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10		9
HP:0001387	HP:0001387	Joint stiffness	0	NFKBIL1 CL E G H	4795	7800	OMIM:180300	RHEUMATOID ARTHRITIS; RA		1
HP:0001387	HP:0001387	Joint stiffness	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	494
HP:0001387	HP:0001387	Joint stiffness	0	NOG CL E G H	9241	7866	ORPHA:3237	Multiple synostoses syndrome	HP:0040281 - Very frequent	22
HP:0001387	HP:0001387	Joint stiffness	0	NPR2 CL E G H	4882	7944	ORPHA:40	Acromesomelic dysplasia, Maroteaux type	HP:0040282 - Frequent	53
HP:0001387	HP:0001387	Joint stiffness	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent	544
HP:0001387	HP:0001387	Joint stiffness	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0001387	HP:0001387	Joint stiffness	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent	3
HP:0001387	HP:0001387	Joint stiffness	0	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040281 - Very frequent	59
HP:0001387	HP:0001387	Joint stiffness	0	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy		11
HP:0001387	HP:0001387	Joint stiffness	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001387	HP:0001387	Joint stiffness	0	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	HP:0040281 - Very frequent	77
HP:0001387	HP:0001387	Joint stiffness	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040281 - Very frequent	77
HP:0001387	HP:0001387	Joint stiffness	0	PITX1 CL E G H	5307	9004	ORPHA:1275	Brachydactyly-elbow wrist dysplasia syndrome	HP:0040281 - Very frequent	8
HP:0001387	HP:0001387	Joint stiffness	0	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism		133
HP:0001387	HP:0001387	Joint stiffness	0	PLOD2 CL E G H	5352	9082	ORPHA:2771	Bruck syndrome	HP:0040281 - Very frequent	45
HP:0001387	HP:0001387	Joint stiffness	0	PNKD CL E G H	25953	9153	ORPHA:98810	Paroxysmal non-kinesigenic dyskinesia	HP:0040283 - Occasional	66
HP:0001387	HP:0001387	Joint stiffness	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0001387	HP:0001387	Joint stiffness	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	148
HP:0001387	HP:0001387	Joint stiffness	0	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome		6
HP:0001387	HP:0001387	Joint stiffness	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001387	HP:0001387	Joint stiffness	0	PRRT2 CL E G H	112476	30500	ORPHA:98810	Paroxysmal non-kinesigenic dyskinesia	HP:0040283 - Occasional	94
HP:0001387	HP:0001387	Joint stiffness	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0001387	HP:0001387	Joint stiffness	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	.	22
HP:0001387	HP:0001387	Joint stiffness	0	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease	HP:0040282 - Frequent	58
HP:0001387	HP:0001387	Joint stiffness	0	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0001387	HP:0001387	Joint stiffness	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent	3
HP:0001387	HP:0001387	Joint stiffness	0	PTPN22 CL E G H	26191	9652	OMIM:180300	RHEUMATOID ARTHRITIS; RA		3
HP:0001387	HP:0001387	Joint stiffness	0	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	3
HP:0001387	HP:0001387	Joint stiffness	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	85
HP:0001387	HP:0001387	Joint stiffness	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	90
HP:0001387	HP:0001387	Joint stiffness	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	135
HP:0001387	HP:0001387	Joint stiffness	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	25
HP:0001387	HP:0001387	Joint stiffness	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040283 - Occasional	150
HP:0001387	HP:0001387	Joint stiffness	0	RECQL4 CL E G H	9401	9949	OMIM:266280	Rapadilino syndrome		445
HP:0001387	HP:0001387	Joint stiffness	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	16
HP:0001387	HP:0001387	Joint stiffness	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001387	HP:0001387	Joint stiffness	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome	HP:0040283 - Occasional	15
HP:0001387	HP:0001387	Joint stiffness	0	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome	HP:0040281 - Very frequent	86
HP:0001387	HP:0001387	Joint stiffness	0	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2		1
HP:0001387	HP:0001387	Joint stiffness	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0001387	HP:0001387	Joint stiffness	0	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040282 - Frequent	49
HP:0001387	HP:0001387	Joint stiffness	0	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA	.	97
HP:0001387	HP:0001387	Joint stiffness	0	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040282 - Frequent	134
HP:0001387	HP:0001387	Joint stiffness	0	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent	66
HP:0001387	HP:0001387	Joint stiffness	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	150
HP:0001387	HP:0001387	Joint stiffness	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional	150
HP:0001387	HP:0001387	Joint stiffness	0	SLC22A4 CL E G H	6583	10968	OMIM:180300	RHEUMATOID ARTHRITIS; RA		3
HP:0001387	HP:0001387	Joint stiffness	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040282 - Frequent	166
HP:0001387	HP:0001387	Joint stiffness	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040282 - Frequent	166
HP:0001387	HP:0001387	Joint stiffness	0	SLC6A5 CL E G H	9152	11051	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent	81
HP:0001387	HP:0001387	Joint stiffness	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040281 - Very frequent	504
HP:0001387	HP:0001387	Joint stiffness	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome		504
HP:0001387	HP:0001387	Joint stiffness	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	135
HP:0001387	HP:0001387	Joint stiffness	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	91
HP:0001387	HP:0001387	Joint stiffness	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	4
HP:0001387	HP:0001387	Joint stiffness	0	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	2
HP:0001387	HP:0001387	Joint stiffness	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0001387	HP:0001387	Joint stiffness	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001387	HP:0001387	Joint stiffness	0	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency	HP:0040282 - Frequent	80
HP:0001387	HP:0001387	Joint stiffness	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent	1
HP:0001387	HP:0001387	Joint stiffness	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	1129
HP:0001387	HP:0001387	Joint stiffness	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	508
HP:0001387	HP:0001387	Joint stiffness	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	15
HP:0001387	HP:0001387	Joint stiffness	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001387	HP:0001387	Joint stiffness	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0001387	HP:0001387	Joint stiffness	0	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome	HP:0040281 - Very frequent	123
HP:0001387	HP:0001387	Joint stiffness	0	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040282 - Frequent	6
HP:0001387	HP:0001387	Joint stiffness	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001387	HP:0001387	Joint stiffness	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	171
HP:0001387	HP:0001387	Joint stiffness	0	TNNI2 CL E G H	7136	11946	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent	37
HP:0001387	HP:0001387	Joint stiffness	0	TNNI2 CL E G H	7136	11946	ORPHA:1147	Sheldon-Hall syndrome	HP:0040281 - Very frequent	37
HP:0001387	HP:0001387	Joint stiffness	0	TNNT3 CL E G H	7140	11950	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent	43
HP:0001387	HP:0001387	Joint stiffness	0	TNNT3 CL E G H	7140	11950	ORPHA:1147	Sheldon-Hall syndrome	HP:0040281 - Very frequent	43
HP:0001387	HP:0001387	Joint stiffness	0	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A		54
HP:0001387	HP:0001387	Joint stiffness	0	TPM2 CL E G H	7169	12011	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent	54
HP:0001387	HP:0001387	Joint stiffness	0	TPM2 CL E G H	7169	12011	ORPHA:1147	Sheldon-Hall syndrome	HP:0040281 - Very frequent	54
HP:0001387	HP:0001387	Joint stiffness	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda		46
HP:0001387	HP:0001387	Joint stiffness	0	TRPV4 CL E G H	59341	18083	ORPHA:1216	Autosomal dominant congenital benign spinal muscular atrophy	HP:0040281 - Very frequent	214
HP:0001387	HP:0001387	Joint stiffness	0	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia	HP:0040281 - Very frequent	214
HP:0001387	HP:0001387	Joint stiffness	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001387	HP:0001387	Joint stiffness	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0001387	HP:0001387	Joint stiffness	0	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence	HP:0040282 - Frequent	111
HP:0001387	HP:0001387	Joint stiffness	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040282 - Frequent	1
HP:0001387	HP:0001387	Joint stiffness	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001387	HP:0001387	Joint stiffness	0	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional	389
HP:0001387	HP:0001387	Joint stiffness	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040283 - Occasional	310
HP:0001387	HP:0001387	Joint stiffness	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83
HP:0001387	HP:0025265	Stiff toe	1	CL E G H
HP:0001387	HP:0025261	Stiff finger	1	CL E G H
HP:0001387	HP:0025260	Stiff wrist	1	CL E G H
HP:0001387	HP:0005198	Stiff interphalangeal joints	1	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0001387	HP:0025258	Stiff neck	1	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type	.	284
HP:0001387	HP:0025258	Stiff neck	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0001387	HP:0005198	Stiff interphalangeal joints	1	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional	38
HP:0001387	HP:0025258	Stiff neck	1	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040282 - Frequent	96
HP:0001387	HP:0025258	Stiff neck	1	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8		22
HP:0001387	HP:0025258	Stiff neck	1	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10	.	9
HP:0001387	HP:0025262	Stiff hip	1	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040282 - Frequent	133
HP:0001387	HP:0005197	Generalized morning stiffness	1	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome	.	6
HP:0001387	HP:0005198	Stiff interphalangeal joints	1	RECQL4 CL E G H	9401	9949	OMIM:266280	Rapadilino syndrome	.	445
HP:0001387	HP:0025259	Stiff elbow	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare	143
HP:0001387	HP:0025264	Stiff ankle	1	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166
HP:0001387	HP:0025259	Stiff elbow	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0001387	HP:0009742	Stiff shoulders	1	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.	54
HP:0001387	HP:0025263	Stiff knee	1	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040283 - Occasional	46