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:0001382	HP:0001382	Joint hypermobility	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum		415
HP:0001382	HP:0001382	Joint hypermobility	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		165
HP:0001382	HP:0001382	Joint hypermobility	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		72
HP:0001382	HP:0001382	Joint hypermobility	0	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0001382	HP:0001382	Joint hypermobility	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040281 - Very frequent
HP:0001382	HP:0001382	Joint hypermobility	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0001382	HP:0001382	Joint hypermobility	0	ALDH18A1 CL E G H	5832	9722	ORPHA:35664	ALDH18A1-related De Barsy syndrome		89
HP:0001382	HP:0001382	Joint hypermobility	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0001382	HP:0001382	Joint hypermobility	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	.	2
HP:0001382	HP:0001382	Joint hypermobility	0	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS		2
HP:0001382	HP:0001382	Joint hypermobility	0	ANKRD55 CL E G H	79722	25681	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0001382	HP:0001382	Joint hypermobility	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome		8
HP:0001382	HP:0001382	Joint hypermobility	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0001382	HP:0001382	Joint hypermobility	0	ARF1 CL E G H	375	652	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent
HP:0001382	HP:0001382	Joint hypermobility	0	ARFGEF2 CL E G H	10564	15853	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	179
HP:0001382	HP:0001382	Joint hypermobility	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0001382	HP:0001382	Joint hypermobility	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis		78
HP:0001382	HP:0001382	Joint hypermobility	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.	16
HP:0001382	HP:0001382	Joint hypermobility	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0001382	HP:0001382	Joint hypermobility	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0001382	HP:0001382	Joint hypermobility	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0001382	HP:0001382	Joint hypermobility	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent	5
HP:0001382	HP:0001382	Joint hypermobility	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease		192
HP:0001382	HP:0001382	Joint hypermobility	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome		192
HP:0001382	HP:0001382	Joint hypermobility	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.	315
HP:0001382	HP:0001382	Joint hypermobility	0	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome		168
HP:0001382	HP:0001382	Joint hypermobility	0	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome		1
HP:0001382	HP:0001382	Joint hypermobility	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	38
HP:0001382	HP:0001382	Joint hypermobility	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		5
HP:0001382	HP:0001382	Joint hypermobility	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome		29
HP:0001382	HP:0001382	Joint hypermobility	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0001382	HP:0001382	Joint hypermobility	0	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin	.	11
HP:0001382	HP:0001382	Joint hypermobility	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0001382	HP:0001382	Joint hypermobility	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0001382	HP:0001382	Joint hypermobility	0	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome	.	7
HP:0001382	HP:0001382	Joint hypermobility	0	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII	HP:0040283 - Occasional	49
HP:0001382	HP:0001382	Joint hypermobility	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0001382	HP:0001382	Joint hypermobility	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0001382	HP:0001382	Joint hypermobility	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0001382	HP:0001382	Joint hypermobility	0	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome		13
HP:0001382	HP:0001382	Joint hypermobility	0	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome		15
HP:0001382	HP:0001382	Joint hypermobility	0	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2		7
HP:0001382	HP:0001382	Joint hypermobility	0	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome		7
HP:0001382	HP:0001382	Joint hypermobility	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0001382	HP:0001382	Joint hypermobility	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0001382	HP:0001382	Joint hypermobility	0	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome		85
HP:0001382	HP:0001382	Joint hypermobility	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome		317
HP:0001382	HP:0001382	Joint hypermobility	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.	317
HP:0001382	HP:0001382	Joint hypermobility	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome		5
HP:0001382	HP:0001382	Joint hypermobility	0	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3		5
HP:0001382	HP:0001382	Joint hypermobility	0	CD247 CL E G H	919	1677	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	8
HP:0001382	HP:0001382	Joint hypermobility	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001382	HP:0001382	Joint hypermobility	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0001382	HP:0001382	Joint hypermobility	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0001382	HP:0001382	Joint hypermobility	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.	8
HP:0001382	HP:0001382	Joint hypermobility	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0001382	HP:0001382	Joint hypermobility	0	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome		20
HP:0001382	HP:0001382	Joint hypermobility	0	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome		161
HP:0001382	HP:0001382	Joint hypermobility	0	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome		146
HP:0001382	HP:0001382	Joint hypermobility	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40	.	16
HP:0001382	HP:0001382	Joint hypermobility	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		165
HP:0001382	HP:0001382	Joint hypermobility	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0001382	HP:0001382	Joint hypermobility	0	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome		215
HP:0001382	HP:0001382	Joint hypermobility	0	COL11A1 CL E G H	1301	2186	OMIM:604841	Stickler syndrome, type II		215
HP:0001382	HP:0001382	Joint hypermobility	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	65
HP:0001382	HP:0001382	Joint hypermobility	0	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type		65
HP:0001382	HP:0001382	Joint hypermobility	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	65
HP:0001382	HP:0001382	Joint hypermobility	0	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2		65
HP:0001382	HP:0001382	Joint hypermobility	0	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome		177
HP:0001382	HP:0001382	Joint hypermobility	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0001382	HP:0001382	Joint hypermobility	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome		373
HP:0001382	HP:0001382	Joint hypermobility	0	COL1A1 CL E G H	1277	2197	OMIM:114000	Caffey disease		373
HP:0001382	HP:0001382	Joint hypermobility	0	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1		373
HP:0001382	HP:0001382	Joint hypermobility	0	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I	.	373
HP:0001382	HP:0001382	Joint hypermobility	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome		243
HP:0001382	HP:0001382	Joint hypermobility	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040281 - Very frequent	243
HP:0001382	HP:0001382	Joint hypermobility	0	COL1A2 CL E G H	1278	2198	OMIM:619120	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2		243
HP:0001382	HP:0001382	Joint hypermobility	0	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2	.	243
HP:0001382	HP:0001382	Joint hypermobility	0	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1		284
HP:0001382	HP:0001382	Joint hypermobility	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I		284
HP:0001382	HP:0001382	Joint hypermobility	0	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria		749
HP:0001382	HP:0001382	Joint hypermobility	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0001382	HP:0001382	Joint hypermobility	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome		749
HP:0001382	HP:0001382	Joint hypermobility	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0001382	HP:0001382	Joint hypermobility	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0001382	HP:0001382	Joint hypermobility	0	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0001382	HP:0001382	Joint hypermobility	0	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0001382	HP:0001382	Joint hypermobility	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	442
HP:0001382	HP:0001382	Joint hypermobility	0	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type		442
HP:0001382	HP:0001382	Joint hypermobility	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1		442
HP:0001382	HP:0001382	Joint hypermobility	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	478
HP:0001382	HP:0001382	Joint hypermobility	0	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type		478
HP:0001382	HP:0001382	Joint hypermobility	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1		478
HP:0001382	HP:0001382	Joint hypermobility	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	702
HP:0001382	HP:0001382	Joint hypermobility	0	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type		702
HP:0001382	HP:0001382	Joint hypermobility	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1		702
HP:0001382	HP:0001382	Joint hypermobility	0	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome		110
HP:0001382	HP:0001382	Joint hypermobility	0	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome		110
HP:0001382	HP:0001382	Joint hypermobility	0	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome		137
HP:0001382	HP:0001382	Joint hypermobility	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	.	9
HP:0001382	HP:0001382	Joint hypermobility	0	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1		89
HP:0001382	HP:0001382	Joint hypermobility	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia		89
HP:0001382	HP:0001382	Joint hypermobility	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0001382	HP:0001382	Joint hypermobility	0	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI	.	4
HP:0001382	HP:0001382	Joint hypermobility	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0001382	HP:0001382	Joint hypermobility	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1	.	291
HP:0001382	HP:0001382	Joint hypermobility	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0001382	HP:0001382	Joint hypermobility	0	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0001382	HP:0001382	Joint hypermobility	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001382	HP:0001382	Joint hypermobility	0	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	HP:0040283 - Occasional	12
HP:0001382	HP:0001382	Joint hypermobility	0	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p		15
HP:0001382	HP:0001382	Joint hypermobility	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type		38
HP:0001382	HP:0001382	Joint hypermobility	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.	127
HP:0001382	HP:0001382	Joint hypermobility	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome		127
HP:0001382	HP:0001382	Joint hypermobility	0	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital		80
HP:0001382	HP:0001382	Joint hypermobility	0	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language	.	4
HP:0001382	HP:0001382	Joint hypermobility	0	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent	1
HP:0001382	HP:0001382	Joint hypermobility	0	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040281 - Very frequent	1
HP:0001382	HP:0001382	Joint hypermobility	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.	5
HP:0001382	HP:0001382	Joint hypermobility	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0001382	HP:0001382	Joint hypermobility	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040283 - Occasional	44
HP:0001382	HP:0001382	Joint hypermobility	0	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040283 - Occasional	144
HP:0001382	HP:0001382	Joint hypermobility	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001382	HP:0001382	Joint hypermobility	0	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D		37
HP:0001382	HP:0001382	Joint hypermobility	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome		4
HP:0001382	HP:0001382	Joint hypermobility	0	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	.	45
HP:0001382	HP:0001382	Joint hypermobility	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia		27
HP:0001382	HP:0001382	Joint hypermobility	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0001382	HP:0001382	Joint hypermobility	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0001382	HP:0001382	Joint hypermobility	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0001382	HP:0001382	Joint hypermobility	0	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0001382	HP:0001382	Joint hypermobility	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum		151
HP:0001382	HP:0001382	Joint hypermobility	0	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0001382	HP:0001382	Joint hypermobility	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1	.	250
HP:0001382	HP:0001382	Joint hypermobility	0	ERMARD CL E G H	55780	21056	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	36
HP:0001382	HP:0001382	Joint hypermobility	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2		96
HP:0001382	HP:0001382	Joint hypermobility	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome		81
HP:0001382	HP:0001382	Joint hypermobility	0	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0001382	HP:0001382	Joint hypermobility	0	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3		63
HP:0001382	HP:0001382	Joint hypermobility	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0001382	HP:0001382	Joint hypermobility	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0001382	HP:0001382	Joint hypermobility	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040282 - Frequent	1361
HP:0001382	HP:0001382	Joint hypermobility	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome		1361
HP:0001382	HP:0001382	Joint hypermobility	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0001382	HP:0001382	Joint hypermobility	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome		62
HP:0001382	HP:0001382	Joint hypermobility	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia		145
HP:0001382	HP:0001382	Joint hypermobility	0	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia		145
HP:0001382	HP:0001382	Joint hypermobility	0	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2		145
HP:0001382	HP:0001382	Joint hypermobility	0	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency	HP:0040281 - Very frequent	13
HP:0001382	HP:0001382	Joint hypermobility	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0001382	HP:0001382	Joint hypermobility	0	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia		493
HP:0001382	HP:0001382	Joint hypermobility	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome		493
HP:0001382	HP:0001382	Joint hypermobility	0	FLNA CL E G H	2316	3754	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	493
HP:0001382	HP:0001382	Joint hypermobility	0	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome		493
HP:0001382	HP:0001382	Joint hypermobility	0	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome		233
HP:0001382	HP:0001382	Joint hypermobility	0	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy	HP:0040281 - Very frequent	121
HP:0001382	HP:0001382	Joint hypermobility	0	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0001382	HP:0001382	Joint hypermobility	0	GDF5 CL E G H	8200	4220	ORPHA:63442	Angel-shaped phalango-epiphyseal dysplasia		52
HP:0001382	HP:0001382	Joint hypermobility	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0001382	HP:0001382	Joint hypermobility	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0001382	HP:0001382	Joint hypermobility	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0001382	HP:0001382	Joint hypermobility	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0001382	HP:0001382	Joint hypermobility	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001382	HP:0001382	Joint hypermobility	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent	173
HP:0001382	HP:0001382	Joint hypermobility	0	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica		52
HP:0001382	HP:0001382	Joint hypermobility	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum		52
HP:0001382	HP:0001382	Joint hypermobility	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0001382	HP:0001382	Joint hypermobility	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0001382	HP:0001382	Joint hypermobility	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0001382	HP:0001382	Joint hypermobility	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0001382	HP:0001382	Joint hypermobility	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome	.
HP:0001382	HP:0001382	Joint hypermobility	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0001382	HP:0001382	Joint hypermobility	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0001382	HP:0001382	Joint hypermobility	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome		33
HP:0001382	HP:0001382	Joint hypermobility	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0001382	HP:0001382	Joint hypermobility	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0001382	HP:0001382	Joint hypermobility	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0001382	HP:0001382	Joint hypermobility	0	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease		90
HP:0001382	HP:0001382	Joint hypermobility	0	HOXD13 CL E G H	3239	5136	ORPHA:93387	Brachydactyly type E		25
HP:0001382	HP:0001382	Joint hypermobility	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome		113
HP:0001382	HP:0001382	Joint hypermobility	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0001382	HP:0001382	Joint hypermobility	0	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX		28
HP:0001382	HP:0001382	Joint hypermobility	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0001382	HP:0001382	Joint hypermobility	0	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V	HP:0040283 - Occasional	8
HP:0001382	HP:0001382	Joint hypermobility	0	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia		93
HP:0001382	HP:0001382	Joint hypermobility	0	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia		11
HP:0001382	HP:0001382	Joint hypermobility	0	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia		4
HP:0001382	HP:0001382	Joint hypermobility	0	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21		42
HP:0001382	HP:0001382	Joint hypermobility	0	IL2RA CL E G H	3559	6008	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	65
HP:0001382	HP:0001382	Joint hypermobility	0	IL2RB CL E G H	3560	6009	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0001382	HP:0001382	Joint hypermobility	0	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0001382	HP:0001382	Joint hypermobility	0	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0001382	HP:0001382	Joint hypermobility	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001382	HP:0001382	Joint hypermobility	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0001382	HP:0001382	Joint hypermobility	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040282 - Frequent	283
HP:0001382	HP:0001382	Joint hypermobility	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0001382	HP:0001382	Joint hypermobility	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040282 - Frequent	283
HP:0001382	HP:0001382	Joint hypermobility	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type		141
HP:0001382	HP:0001382	Joint hypermobility	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent	13
HP:0001382	HP:0001382	Joint hypermobility	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0001382	HP:0001382	Joint hypermobility	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent	7
HP:0001382	HP:0001382	Joint hypermobility	0	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0001382	HP:0001382	Joint hypermobility	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0001382	HP:0001382	Joint hypermobility	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0001382	HP:0001382	Joint hypermobility	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome		53
HP:0001382	HP:0001382	Joint hypermobility	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0001382	HP:0001382	Joint hypermobility	0	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	.	9
HP:0001382	HP:0001382	Joint hypermobility	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome		91
HP:0001382	HP:0001382	Joint hypermobility	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome		660
HP:0001382	HP:0001382	Joint hypermobility	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0001382	HP:0001382	Joint hypermobility	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome		196
HP:0001382	HP:0001382	Joint hypermobility	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0001382	HP:0001382	Joint hypermobility	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0001382	HP:0001382	Joint hypermobility	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0001382	HP:0001382	Joint hypermobility	0	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation		645
HP:0001382	HP:0001382	Joint hypermobility	0	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27		11
HP:0001382	HP:0001382	Joint hypermobility	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:0001382	HP:0001382	Joint hypermobility	0	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome		8
HP:0001382	HP:0001382	Joint hypermobility	0	LOX CL E G H	4015	6664	OMIM:617168	Aortic aneurysm, familial thoracic 10	HP:0040283 - Occasional	6
HP:0001382	HP:0001382	Joint hypermobility	0	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome		4
HP:0001382	HP:0001382	Joint hypermobility	0	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome	.	125
HP:0001382	HP:0001382	Joint hypermobility	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome		43
HP:0001382	HP:0001382	Joint hypermobility	0	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040283 - Occasional	5
HP:0001382	HP:0001382	Joint hypermobility	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040283 - Occasional	93
HP:0001382	HP:0001382	Joint hypermobility	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0001382	HP:0001382	Joint hypermobility	0	MAP1B CL E G H	4131	6836	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent
HP:0001382	HP:0001382	Joint hypermobility	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0001382	HP:0001382	Joint hypermobility	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		2
HP:0001382	HP:0001382	Joint hypermobility	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome		228
HP:0001382	HP:0001382	Joint hypermobility	0	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome		228
HP:0001382	HP:0001382	Joint hypermobility	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked	.	228
HP:0001382	HP:0001382	Joint hypermobility	0	MEFV CL E G H	4210	6998	ORPHA:329967	Intermittent hydrarthrosis		281
HP:0001382	HP:0001382	Joint hypermobility	0	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent	1
HP:0001382	HP:0001382	Joint hypermobility	0	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040281 - Very frequent	1
HP:0001382	HP:0001382	Joint hypermobility	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0001382	HP:0001382	Joint hypermobility	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0001382	HP:0001382	Joint hypermobility	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0001382	HP:0001382	Joint hypermobility	0	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040283 - Occasional	185
HP:0001382	HP:0001382	Joint hypermobility	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0001382	HP:0001382	Joint hypermobility	0	NEDD4L CL E G H	23327	7728	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	30
HP:0001382	HP:0001382	Joint hypermobility	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0001382	HP:0001382	Joint hypermobility	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040282 - Frequent	1952
HP:0001382	HP:0001382	Joint hypermobility	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0001382	HP:0001382	Joint hypermobility	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome		40
HP:0001382	HP:0001382	Joint hypermobility	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0001382	HP:0001382	Joint hypermobility	0	NLRP1 CL E G H	22861	14374	OMIM:615225	Palmoplantar carcinoma, multiple self-healing		37
HP:0001382	HP:0001382	Joint hypermobility	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0001382	HP:0001382	Joint hypermobility	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome		144
HP:0001382	HP:0001382	Joint hypermobility	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0001382	HP:0001382	Joint hypermobility	0	NPR2 CL E G H	4882	7944	ORPHA:40	Acromesomelic dysplasia, Maroteaux type		53
HP:0001382	HP:0001382	Joint hypermobility	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome		102
HP:0001382	HP:0001382	Joint hypermobility	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome		544
HP:0001382	HP:0001382	Joint hypermobility	0	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040282 - Frequent	34
HP:0001382	HP:0001382	Joint hypermobility	0	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.	34
HP:0001382	HP:0001382	Joint hypermobility	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0001382	HP:0001382	Joint hypermobility	0	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome
HP:0001382	HP:0001382	Joint hypermobility	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome		143
HP:0001382	HP:0001382	Joint hypermobility	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0001382	HP:0001382	Joint hypermobility	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0001382	HP:0001382	Joint hypermobility	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome		53
HP:0001382	HP:0001382	Joint hypermobility	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome		21
HP:0001382	HP:0001382	Joint hypermobility	0	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.	21
HP:0001382	HP:0001382	Joint hypermobility	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome		39
HP:0001382	HP:0001382	Joint hypermobility	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome		4
HP:0001382	HP:0001382	Joint hypermobility	0	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome		2
HP:0001382	HP:0001382	Joint hypermobility	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0001382	HP:0001382	Joint hypermobility	0	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome
HP:0001382	HP:0001382	Joint hypermobility	0	PAX2 CL E G H	5076	8616	ORPHA:1475	Renal coloboma syndrome		39
HP:0001382	HP:0001382	Joint hypermobility	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II		531
HP:0001382	HP:0001382	Joint hypermobility	0	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome		531
HP:0001382	HP:0001382	Joint hypermobility	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0001382	HP:0001382	Joint hypermobility	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome		29
HP:0001382	HP:0001382	Joint hypermobility	0	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.	11
HP:0001382	HP:0001382	Joint hypermobility	0	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome		7
HP:0001382	HP:0001382	Joint hypermobility	0	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55		2
HP:0001382	HP:0001382	Joint hypermobility	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12
HP:0001382	HP:0001382	Joint hypermobility	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0001382	HP:0001382	Joint hypermobility	0	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome		162
HP:0001382	HP:0001382	Joint hypermobility	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome		43
HP:0001382	HP:0001382	Joint hypermobility	0	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0001382	HP:0001382	Joint hypermobility	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder		3
HP:0001382	HP:0001382	Joint hypermobility	0	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome		11
HP:0001382	HP:0001382	Joint hypermobility	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency		105
HP:0001382	HP:0001382	Joint hypermobility	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0001382	HP:0001382	Joint hypermobility	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0001382	HP:0001382	Joint hypermobility	0	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36	.	13
HP:0001382	HP:0001382	Joint hypermobility	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	13
HP:0001382	HP:0001382	Joint hypermobility	0	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome		58
HP:0001382	HP:0001382	Joint hypermobility	0	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2	.	58
HP:0001382	HP:0001382	Joint hypermobility	0	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia		34
HP:0001382	HP:0001382	Joint hypermobility	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0001382	HP:0001382	Joint hypermobility	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3		665
HP:0001382	HP:0001382	Joint hypermobility	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0001382	HP:0001382	Joint hypermobility	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism		6
HP:0001382	HP:0001382	Joint hypermobility	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome		948
HP:0001382	HP:0001382	Joint hypermobility	0	PTHLH CL E G H	5744	9607	ORPHA:93387	Brachydactyly type E		6
HP:0001382	HP:0001382	Joint hypermobility	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome		291
HP:0001382	HP:0001382	Joint hypermobility	0	PTPN2 CL E G H	5771	9650	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0001382	HP:0001382	Joint hypermobility	0	PTPN22 CL E G H	26191	9652	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	3
HP:0001382	HP:0001382	Joint hypermobility	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0001382	HP:0001382	Joint hypermobility	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.	53
HP:0001382	HP:0001382	Joint hypermobility	0	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica		53
HP:0001382	HP:0001382	Joint hypermobility	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional	11
HP:0001382	HP:0001382	Joint hypermobility	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0001382	HP:0001382	Joint hypermobility	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1	HP:0040283 - Occasional	90
HP:0001382	HP:0001382	Joint hypermobility	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0001382	HP:0001382	Joint hypermobility	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome		212
HP:0001382	HP:0001382	Joint hypermobility	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome		3
HP:0001382	HP:0001382	Joint hypermobility	0	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome		68
HP:0001382	HP:0001382	Joint hypermobility	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0001382	HP:0001382	Joint hypermobility	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome	.	43
HP:0001382	HP:0001382	Joint hypermobility	0	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome	HP:0040281 - Very frequent	43
HP:0001382	HP:0001382	Joint hypermobility	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome		39
HP:0001382	HP:0001382	Joint hypermobility	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.	37
HP:0001382	HP:0001382	Joint hypermobility	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0001382	HP:0001382	Joint hypermobility	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001382	HP:0001382	Joint hypermobility	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome		65
HP:0001382	HP:0001382	Joint hypermobility	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome		65
HP:0001382	HP:0001382	Joint hypermobility	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0001382	HP:0001382	Joint hypermobility	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome		1
HP:0001382	HP:0001382	Joint hypermobility	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0001382	HP:0001382	Joint hypermobility	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome		2
HP:0001382	HP:0001382	Joint hypermobility	0	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0001382	HP:0001382	Joint hypermobility	0	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040281 - Very frequent
HP:0001382	HP:0001382	Joint hypermobility	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0001382	HP:0001382	Joint hypermobility	0	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement		1200
HP:0001382	HP:0001382	Joint hypermobility	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001382	HP:0001382	Joint hypermobility	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome		34
HP:0001382	HP:0001382	Joint hypermobility	0	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040283 - Occasional	34
HP:0001382	HP:0001382	Joint hypermobility	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:0001382	HP:0001382	Joint hypermobility	0	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia		2
HP:0001382	HP:0001382	Joint hypermobility	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0001382	HP:0001382	Joint hypermobility	0	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome		5
HP:0001382	HP:0001382	Joint hypermobility	0	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p		6
HP:0001382	HP:0001382	Joint hypermobility	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58	.	1
HP:0001382	HP:0001382	Joint hypermobility	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID		6
HP:0001382	HP:0001382	Joint hypermobility	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0001382	HP:0001382	Joint hypermobility	0	SIN3A CL E G H	25942	19353	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation	HP:0040282 - Frequent	9
HP:0001382	HP:0001382	Joint hypermobility	0	SIN3B CL E G H	23309	19354	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation	HP:0040282 - Frequent
HP:0001382	HP:0001382	Joint hypermobility	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0001382	HP:0001382	Joint hypermobility	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome		150
HP:0001382	HP:0001382	Joint hypermobility	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia		166
HP:0001382	HP:0001382	Joint hypermobility	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome		178
HP:0001382	HP:0001382	Joint hypermobility	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare	27
HP:0001382	HP:0001382	Joint hypermobility	0	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN	HP:0040283 - Occasional	11
HP:0001382	HP:0001382	Joint hypermobility	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.	122
HP:0001382	HP:0001382	Joint hypermobility	0	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency		122
HP:0001382	HP:0001382	Joint hypermobility	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome		93
HP:0001382	HP:0001382	Joint hypermobility	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0001382	HP:0001382	Joint hypermobility	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type		19
HP:0001382	HP:0001382	Joint hypermobility	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040282 - Frequent	12
HP:0001382	HP:0001382	Joint hypermobility	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0001382	HP:0001382	Joint hypermobility	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome		315
HP:0001382	HP:0001382	Joint hypermobility	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome		30
HP:0001382	HP:0001382	Joint hypermobility	0	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII		34
HP:0001382	HP:0001382	Joint hypermobility	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040282 - Frequent	66
HP:0001382	HP:0001382	Joint hypermobility	0	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive		66
HP:0001382	HP:0001382	Joint hypermobility	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0001382	HP:0001382	Joint hypermobility	0	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA		138
HP:0001382	HP:0001382	Joint hypermobility	0	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome		110
HP:0001382	HP:0001382	Joint hypermobility	0	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0001382	HP:0001382	Joint hypermobility	0	STAT4 CL E G H	6775	11365	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	2
HP:0001382	HP:0001382	Joint hypermobility	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0001382	HP:0001382	Joint hypermobility	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome		1
HP:0001382	HP:0001382	Joint hypermobility	0	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome		11
HP:0001382	HP:0001382	Joint hypermobility	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0001382	HP:0001382	Joint hypermobility	0	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040282 - Frequent	21
HP:0001382	HP:0001382	Joint hypermobility	0	TANC2 CL E G H	26115	30212	OMIM:618906	INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS
HP:0001382	HP:0001382	Joint hypermobility	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0001382	HP:0001382	Joint hypermobility	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0001382	HP:0001382	Joint hypermobility	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0001382	HP:0001382	Joint hypermobility	0	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26		28
HP:0001382	HP:0001382	Joint hypermobility	0	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0001382	HP:0001382	Joint hypermobility	0	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0001382	HP:0001382	Joint hypermobility	0	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome		6
HP:0001382	HP:0001382	Joint hypermobility	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0001382	HP:0001382	Joint hypermobility	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0001382	HP:0001382	Joint hypermobility	0	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome		239
HP:0001382	HP:0001382	Joint hypermobility	0	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome		253
HP:0001382	HP:0001382	Joint hypermobility	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.	1
HP:0001382	HP:0001382	Joint hypermobility	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	HP:0040283 - Occasional	6
HP:0001382	HP:0001382	Joint hypermobility	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0001382	HP:0001382	Joint hypermobility	0	TMTC3 CL E G H	160418	26899	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	5
HP:0001382	HP:0001382	Joint hypermobility	0	TNFRSF1A CL E G H	7132	11916	ORPHA:329967	Intermittent hydrarthrosis		131
HP:0001382	HP:0001382	Joint hypermobility	0	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0001382	HP:0001382	Joint hypermobility	0	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1	HP:0040282 - Frequent	134
HP:0001382	HP:0001382	Joint hypermobility	0	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like	.	134
HP:0001382	HP:0001382	Joint hypermobility	0	TNXB CL E G H	7148	11976	OMIM:615963	Vesicoureteral reflux 8	.	134
HP:0001382	HP:0001382	Joint hypermobility	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0001382	HP:0001382	Joint hypermobility	0	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome		2
HP:0001382	HP:0001382	Joint hypermobility	0	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia		133
HP:0001382	HP:0001382	Joint hypermobility	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia	.	133
HP:0001382	HP:0001382	Joint hypermobility	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2		171
HP:0001382	HP:0001382	Joint hypermobility	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001382	HP:0001382	Joint hypermobility	0	UBE3A CL E G H	7337	12496	ORPHA:238446	15q11q13 microduplication syndrome		278
HP:0001382	HP:0001382	Joint hypermobility	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0001382	HP:0001382	Joint hypermobility	0	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome		33
HP:0001382	HP:0001382	Joint hypermobility	0	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99		27
HP:0001382	HP:0001382	Joint hypermobility	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability		27
HP:0001382	HP:0001382	Joint hypermobility	0	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic	.	2
HP:0001382	HP:0001382	Joint hypermobility	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.	546
HP:0001382	HP:0001382	Joint hypermobility	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome		546
HP:0001382	HP:0001382	Joint hypermobility	0	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53		7
HP:0001382	HP:0001382	Joint hypermobility	0	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53		7
HP:0001382	HP:0001382	Joint hypermobility	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0001382	HP:0001382	Joint hypermobility	0	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0001382	HP:0001382	Joint hypermobility	0	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia		95
HP:0001382	HP:0001382	Joint hypermobility	0	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4	.	95
HP:0001382	HP:0001382	Joint hypermobility	0	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia		136
HP:0001382	HP:0001382	Joint hypermobility	0	WNT1 CL E G H	7471	12774	OMIM:615220	Osteogenesis imperfecta, type XV		12
HP:0001382	HP:0001382	Joint hypermobility	0	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome		14
HP:0001382	HP:0001382	Joint hypermobility	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome		5
HP:0001382	HP:0001382	Joint hypermobility	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001382	HP:0001382	Joint hypermobility	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0001382	HP:0001382	Joint hypermobility	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0001382	HP:0001382	Joint hypermobility	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0001382	HP:0001382	Joint hypermobility	0	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome		10
HP:0001382	HP:0001382	Joint hypermobility	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0001382	HP:0001382	Joint hypermobility	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0001382	HP:0001382	Joint hypermobility	0	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive	HP:0040284 - Very rare	1
HP:0001382	HP:0001382	Joint hypermobility	0	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome		397
HP:0001382	HP:0005692	Joint hyperflexibility	1	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	415
HP:0001382	HP:0005692	Joint hyperflexibility	1	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	165
HP:0001382	HP:0005692	Joint hyperflexibility	1	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	72
HP:0001382	HP:0005692	Joint hyperflexibility	1	ALDH18A1 CL E G H	5832	9722	ORPHA:35664	ALDH18A1-related De Barsy syndrome	HP:0040281 - Very frequent	89
HP:0001382	HP:0005692	Joint hyperflexibility	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040281 - Very frequent	8
HP:0001382	HP:0005692	Joint hyperflexibility	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0001382	HP:0006094	Finger joint hypermobility	1	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis		78
HP:0001382	HP:0005692	Joint hyperflexibility	1	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040281 - Very frequent	192
HP:0001382	HP:0005692	Joint hyperflexibility	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040281 - Very frequent	192
HP:0001382	HP:0005692	Joint hyperflexibility	1	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	168
HP:0001382	HP:0005692	Joint hyperflexibility	1	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	1
HP:0001382	HP:0005692	Joint hyperflexibility	1	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional	29
HP:0001382	HP:0005692	Joint hyperflexibility	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001382	HP:0005692	Joint hyperflexibility	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001382	HP:0005692	Joint hyperflexibility	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0001382	HP:0006094	Finger joint hypermobility	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0001382	HP:0005692	Joint hyperflexibility	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001382	HP:0005692	Joint hyperflexibility	1	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome	HP:0040283 - Occasional	13
HP:0001382	HP:0005692	Joint hyperflexibility	1	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040282 - Frequent	15
HP:0001382	HP:0005692	Joint hyperflexibility	1	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040282 - Frequent	7
HP:0001382	HP:0010485	Hyperextensibility at elbow	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0001382	HP:0005692	Joint hyperflexibility	1	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent	85
HP:0001382	HP:0005692	Joint hyperflexibility	1	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	317
HP:0001382	HP:0005692	Joint hyperflexibility	1	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	5
HP:0001382	HP:0005692	Joint hyperflexibility	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	9
HP:0001382	HP:0005692	Joint hyperflexibility	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	31
HP:0001382	HP:0005692	Joint hyperflexibility	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	50
HP:0001382	HP:0005692	Joint hyperflexibility	1	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	20
HP:0001382	HP:0005692	Joint hyperflexibility	1	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	161
HP:0001382	HP:0005692	Joint hyperflexibility	1	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	146
HP:0001382	HP:0005692	Joint hyperflexibility	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001382	HP:0005692	Joint hyperflexibility	1	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent	215
HP:0001382	HP:0006094	Finger joint hypermobility	1	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type		65
HP:0001382	HP:0005072	Hyperextensibility at wrists	1	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	65
HP:0001382	HP:0005692	Joint hyperflexibility	1	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional	177
HP:0001382	HP:0005692	Joint hyperflexibility	1	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	373
HP:0001382	HP:0005692	Joint hyperflexibility	1	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	243
HP:0001382	HP:0005620	Hypermobility of interphalangeal joints	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome		243
HP:0001382	HP:0006094	Finger joint hypermobility	1	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2		243
HP:0001382	HP:0005692	Joint hyperflexibility	1	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1	HP:0040282 - Frequent	284
HP:0001382	HP:0005692	Joint hyperflexibility	1	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria	HP:0040281 - Very frequent	749
HP:0001382	HP:0006094	Finger joint hypermobility	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0001382	HP:0005620	Hypermobility of interphalangeal joints	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0001382	HP:0005692	Joint hyperflexibility	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0001382	HP:0010485	Hyperextensibility at elbow	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0001382	HP:0006094	Finger joint hypermobility	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0001382	HP:0006094	Finger joint hypermobility	1	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type		442
HP:0001382	HP:0005072	Hyperextensibility at wrists	1	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	442
HP:0001382	HP:0006094	Finger joint hypermobility	1	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1		442
HP:0001382	HP:0005072	Hyperextensibility at wrists	1	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0001382	HP:0006094	Finger joint hypermobility	1	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type		478
HP:0001382	HP:0005072	Hyperextensibility at wrists	1	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	478
HP:0001382	HP:0006094	Finger joint hypermobility	1	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1		478
HP:0001382	HP:0005072	Hyperextensibility at wrists	1	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0001382	HP:0006094	Finger joint hypermobility	1	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type		702
HP:0001382	HP:0005072	Hyperextensibility at wrists	1	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	702
HP:0001382	HP:0006094	Finger joint hypermobility	1	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1		702
HP:0001382	HP:0005072	Hyperextensibility at wrists	1	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0001382	HP:0005692	Joint hyperflexibility	1	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent	110
HP:0001382	HP:0005692	Joint hyperflexibility	1	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent	110
HP:0001382	HP:0005692	Joint hyperflexibility	1	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent	137
HP:0001382	HP:0045086	Knee joint hypermobility	1	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1	HP:0040283 - Occasional	89
HP:0001382	HP:0006094	Finger joint hypermobility	1	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1	HP:0040283 - Occasional	89
HP:0001382	HP:0006094	Finger joint hypermobility	1	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia		89
HP:0001382	HP:0045086	Knee joint hypermobility	1	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040282 - Frequent	89
HP:0001382	HP:0005692	Joint hyperflexibility	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0001382	HP:0005692	Joint hyperflexibility	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0001382	HP:0005692	Joint hyperflexibility	1	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent
HP:0001382	HP:0006094	Finger joint hypermobility	1	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001382	HP:0005692	Joint hyperflexibility	1	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p	HP:0040283 - Occasional	15
HP:0001382	HP:0005692	Joint hyperflexibility	1	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040283 - Occasional	38
HP:0001382	HP:0005692	Joint hyperflexibility	1	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	127
HP:0001382	HP:0005692	Joint hyperflexibility	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001382	HP:0005620	Hypermobility of interphalangeal joints	1	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D		37
HP:0001382	HP:0005692	Joint hyperflexibility	1	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040283 - Occasional	4
HP:0001382	HP:0005692	Joint hyperflexibility	1	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040282 - Frequent	27
HP:0001382	HP:0005692	Joint hyperflexibility	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001382	HP:0005692	Joint hyperflexibility	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0001382	HP:0005692	Joint hyperflexibility	1	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	151
HP:0001382	HP:0005692	Joint hyperflexibility	1	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040282 - Frequent	96
HP:0001382	HP:0005692	Joint hyperflexibility	1	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040283 - Occasional	81
HP:0001382	HP:0006094	Finger joint hypermobility	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0001382	HP:0005692	Joint hyperflexibility	1	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent	1361
HP:0001382	HP:0005692	Joint hyperflexibility	1	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040282 - Frequent	62
HP:0001382	HP:0006094	Finger joint hypermobility	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0001382	HP:0045087	Hip joint hypermobility	1	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040282 - Frequent	145
HP:0001382	HP:0045086	Knee joint hypermobility	1	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040282 - Frequent	145
HP:0001382	HP:0005692	Joint hyperflexibility	1	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia	HP:0040282 - Frequent	145
HP:0001382	HP:0005692	Joint hyperflexibility	1	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2	HP:0040281 - Very frequent	145
HP:0001382	HP:0005692	Joint hyperflexibility	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001382	HP:0005692	Joint hyperflexibility	1	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040282 - Frequent	493
HP:0001382	HP:0005692	Joint hyperflexibility	1	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome	HP:0040281 - Very frequent	493
HP:0001382	HP:0005692	Joint hyperflexibility	1	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome	HP:0040281 - Very frequent	233
HP:0001382	HP:0005692	Joint hyperflexibility	1	GDF5 CL E G H	8200	4220	ORPHA:63442	Angel-shaped phalango-epiphyseal dysplasia	HP:0040283 - Occasional	52
HP:0001382	HP:0005692	Joint hyperflexibility	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	3
HP:0001382	HP:0006094	Finger joint hypermobility	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001382	HP:0005692	Joint hyperflexibility	1	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica	HP:0040281 - Very frequent	52
HP:0001382	HP:0006094	Finger joint hypermobility	1	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum		52
HP:0001382	HP:0005692	Joint hyperflexibility	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0001382	HP:0005692	Joint hyperflexibility	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001382	HP:0005692	Joint hyperflexibility	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001382	HP:0005692	Joint hyperflexibility	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001382	HP:0005692	Joint hyperflexibility	1	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040282 - Frequent	33
HP:0001382	HP:0006094	Finger joint hypermobility	1	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0001382	HP:0005692	Joint hyperflexibility	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0001382	HP:0005692	Joint hyperflexibility	1	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional	90
HP:0001382	HP:0005692	Joint hyperflexibility	1	HOXD13 CL E G H	3239	5136	ORPHA:93387	Brachydactyly type E	HP:0040282 - Frequent	25
HP:0001382	HP:0005692	Joint hyperflexibility	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040282 - Frequent	113
HP:0001382	HP:0006094	Finger joint hypermobility	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0001382	HP:0006094	Finger joint hypermobility	1	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX		28
HP:0001382	HP:0005072	Hyperextensibility at wrists	1	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX		28
HP:0001382	HP:0010485	Hyperextensibility at elbow	1	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX		28
HP:0001382	HP:0006094	Finger joint hypermobility	1	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V		8
HP:0001382	HP:0010485	Hyperextensibility at elbow	1	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V		8
HP:0001382	HP:0005692	Joint hyperflexibility	1	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	93
HP:0001382	HP:0005692	Joint hyperflexibility	1	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	11
HP:0001382	HP:0005692	Joint hyperflexibility	1	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	4
HP:0001382	HP:0005692	Joint hyperflexibility	1	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome	HP:0040283 - Occasional
HP:0001382	HP:0005692	Joint hyperflexibility	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0001382	HP:0005692	Joint hyperflexibility	1	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040282 - Frequent	141
HP:0001382	HP:0006094	Finger joint hypermobility	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0001382	HP:0005692	Joint hyperflexibility	1	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent	53
HP:0001382	HP:0010485	Hyperextensibility at elbow	1	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040283 - Occasional	91
HP:0001382	HP:0005692	Joint hyperflexibility	1	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent	660
HP:0001382	HP:0005692	Joint hyperflexibility	1	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	196
HP:0001382	HP:0005692	Joint hyperflexibility	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0001382	HP:0005692	Joint hyperflexibility	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	88
HP:0001382	HP:0005692	Joint hyperflexibility	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001382	HP:0005692	Joint hyperflexibility	1	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation	HP:0040283 - Occasional	645
HP:0001382	HP:0045086	Knee joint hypermobility	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0001382	HP:0006094	Finger joint hypermobility	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:0001382	HP:0005692	Joint hyperflexibility	1	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome	HP:0040282 - Frequent	8
HP:0001382	HP:0005692	Joint hyperflexibility	1	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent	4
HP:0001382	HP:0005692	Joint hyperflexibility	1	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	43
HP:0001382	HP:0005692	Joint hyperflexibility	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0001382	HP:0006094	Finger joint hypermobility	1	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome		228
HP:0001382	HP:0005692	Joint hyperflexibility	1	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent	228
HP:0001382	HP:0045086	Knee joint hypermobility	1	MEFV CL E G H	4210	6998	ORPHA:329967	Intermittent hydrarthrosis	HP:0040283 - Occasional	281
HP:0001382	HP:0005692	Joint hyperflexibility	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001382	HP:0005692	Joint hyperflexibility	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001382	HP:0005692	Joint hyperflexibility	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0001382	HP:0005692	Joint hyperflexibility	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0001382	HP:0006094	Finger joint hypermobility	1	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0001382	HP:0005692	Joint hyperflexibility	1	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040281 - Very frequent	40
HP:0001382	HP:0006094	Finger joint hypermobility	1	NLRP1 CL E G H	22861	14374	OMIM:615225	Palmoplantar carcinoma, multiple self-healing	HP:0040283 - Occasional	37
HP:0001382	HP:0005692	Joint hyperflexibility	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040282 - Frequent	138
HP:0001382	HP:0005692	Joint hyperflexibility	1	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040282 - Frequent	144
HP:0001382	HP:0005692	Joint hyperflexibility	1	NPR2 CL E G H	4882	7944	ORPHA:40	Acromesomelic dysplasia, Maroteaux type	HP:0040282 - Frequent	53
HP:0001382	HP:0005692	Joint hyperflexibility	1	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	102
HP:0001382	HP:0005692	Joint hyperflexibility	1	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040283 - Occasional	544
HP:0001382	HP:0005692	Joint hyperflexibility	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	84
HP:0001382	HP:0005692	Joint hyperflexibility	1	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent
HP:0001382	HP:0005692	Joint hyperflexibility	1	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	143
HP:0001382	HP:0005692	Joint hyperflexibility	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent	88
HP:0001382	HP:0005692	Joint hyperflexibility	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	53
HP:0001382	HP:0005692	Joint hyperflexibility	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	21
HP:0001382	HP:0005692	Joint hyperflexibility	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	39
HP:0001382	HP:0006094	Finger joint hypermobility	1	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome		4
HP:0001382	HP:0005692	Joint hyperflexibility	1	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome	HP:0040283 - Occasional	2
HP:0001382	HP:0006094	Finger joint hypermobility	1	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0001382	HP:0005692	Joint hyperflexibility	1	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional
HP:0001382	HP:0005692	Joint hyperflexibility	1	PAX2 CL E G H	5076	8616	ORPHA:1475	Renal coloboma syndrome	HP:0040283 - Occasional	39
HP:0001382	HP:0005692	Joint hyperflexibility	1	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040282 - Frequent	531
HP:0001382	HP:0005692	Joint hyperflexibility	1	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	531
HP:0001382	HP:0005692	Joint hyperflexibility	1	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040283 - Occasional	29
HP:0001382	HP:0006094	Finger joint hypermobility	1	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome		7
HP:0001382	HP:0005692	Joint hyperflexibility	1	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0040282 - Frequent	162
HP:0001382	HP:0005692	Joint hyperflexibility	1	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040281 - Very frequent	43
HP:0001382	HP:0006094	Finger joint hypermobility	1	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0001382	HP:0006094	Finger joint hypermobility	1	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder		3
HP:0001382	HP:0005692	Joint hyperflexibility	1	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	11
HP:0001382	HP:0005692	Joint hyperflexibility	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040281 - Very frequent	105
HP:0001382	HP:0005692	Joint hyperflexibility	1	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent	58
HP:0001382	HP:0006094	Finger joint hypermobility	1	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia		34
HP:0001382	HP:0006094	Finger joint hypermobility	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0001382	HP:0005692	Joint hyperflexibility	1	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040282 - Frequent	665
HP:0001382	HP:0005692	Joint hyperflexibility	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040281 - Very frequent	6
HP:0001382	HP:0006094	Finger joint hypermobility	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0001382	HP:0005692	Joint hyperflexibility	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional	948
HP:0001382	HP:0005692	Joint hyperflexibility	1	PTHLH CL E G H	5744	9607	ORPHA:93387	Brachydactyly type E	HP:0040282 - Frequent	6
HP:0001382	HP:0005692	Joint hyperflexibility	1	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	291
HP:0001382	HP:0005620	Hypermobility of interphalangeal joints	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0001382	HP:0005692	Joint hyperflexibility	1	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica	HP:0040281 - Very frequent	53
HP:0001382	HP:0005072	Hyperextensibility at wrists	1	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional	11
HP:0001382	HP:0006094	Finger joint hypermobility	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0001382	HP:0005692	Joint hyperflexibility	1	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	212
HP:0001382	HP:0005692	Joint hyperflexibility	1	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	3
HP:0001382	HP:0005692	Joint hyperflexibility	1	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	68
HP:0001382	HP:0005692	Joint hyperflexibility	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001382	HP:0005692	Joint hyperflexibility	1	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	39
HP:0001382	HP:0005692	Joint hyperflexibility	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040283 - Occasional	37
HP:0001382	HP:0005072	Hyperextensibility at wrists	1	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001382	HP:0006094	Finger joint hypermobility	1	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001382	HP:0006094	Finger joint hypermobility	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome		65
HP:0001382	HP:0005692	Joint hyperflexibility	1	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040281 - Very frequent	65
HP:0001382	HP:0005692	Joint hyperflexibility	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0001382	HP:0005692	Joint hyperflexibility	1	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	1
HP:0001382	HP:0005692	Joint hyperflexibility	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001382	HP:0005639	Hyperextensible hand joints	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0001382	HP:0005692	Joint hyperflexibility	1	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement	HP:0040282 - Frequent	1200
HP:0001382	HP:0005692	Joint hyperflexibility	1	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040283 - Occasional	34
HP:0001382	HP:0005692	Joint hyperflexibility	1	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040283 - Occasional	2
HP:0001382	HP:0005692	Joint hyperflexibility	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001382	HP:0005692	Joint hyperflexibility	1	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome	HP:0040283 - Occasional	5
HP:0001382	HP:0005692	Joint hyperflexibility	1	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p	HP:0040283 - Occasional	6
HP:0001382	HP:0005692	Joint hyperflexibility	1	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent	150
HP:0001382	HP:0005692	Joint hyperflexibility	1	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040283 - Occasional	166
HP:0001382	HP:0005692	Joint hyperflexibility	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040282 - Frequent	178
HP:0001382	HP:0005692	Joint hyperflexibility	1	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency	HP:0040283 - Occasional	122
HP:0001382	HP:0005692	Joint hyperflexibility	1	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040283 - Occasional	93
HP:0001382	HP:0005692	Joint hyperflexibility	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040283 - Occasional	15
HP:0001382	HP:0006094	Finger joint hypermobility	1	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type		19
HP:0001382	HP:0010485	Hyperextensibility at elbow	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0001382	HP:0005639	Hyperextensible hand joints	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0001382	HP:0005692	Joint hyperflexibility	1	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	315
HP:0001382	HP:0005692	Joint hyperflexibility	1	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	30
HP:0001382	HP:0006094	Finger joint hypermobility	1	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII		34
HP:0001382	HP:0005639	Hyperextensible hand joints	1	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.	66
HP:0001382	HP:0005692	Joint hyperflexibility	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0001382	HP:0005692	Joint hyperflexibility	1	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040282 - Frequent	110
HP:0001382	HP:0005692	Joint hyperflexibility	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001382	HP:0005692	Joint hyperflexibility	1	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040283 - Occasional	1
HP:0001382	HP:0005692	Joint hyperflexibility	1	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome	HP:0040283 - Occasional	11
HP:0001382	HP:0005692	Joint hyperflexibility	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001382	HP:0005692	Joint hyperflexibility	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0001382	HP:0005692	Joint hyperflexibility	1	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040283 - Occasional	6
HP:0001382	HP:0005692	Joint hyperflexibility	1	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0001382	HP:0005692	Joint hyperflexibility	1	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome	HP:0040283 - Occasional	239
HP:0001382	HP:0005692	Joint hyperflexibility	1	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome	HP:0040283 - Occasional	253
HP:0001382	HP:0006094	Finger joint hypermobility	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0001382	HP:0005692	Joint hyperflexibility	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001382	HP:0045086	Knee joint hypermobility	1	TNFRSF1A CL E G H	7132	11916	ORPHA:329967	Intermittent hydrarthrosis	HP:0040283 - Occasional	131
HP:0001382	HP:0005692	Joint hyperflexibility	1	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1	HP:0040281 - Very frequent	134
HP:0001382	HP:0005692	Joint hyperflexibility	1	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	2
HP:0001382	HP:0005692	Joint hyperflexibility	1	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia	HP:0040281 - Very frequent	133
HP:0001382	HP:0005692	Joint hyperflexibility	1	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040282 - Frequent	171
HP:0001382	HP:0005692	Joint hyperflexibility	1	UBE3A CL E G H	7337	12496	ORPHA:238446	15q11q13 microduplication syndrome	HP:0040283 - Occasional	278
HP:0001382	HP:0005692	Joint hyperflexibility	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001382	HP:0005692	Joint hyperflexibility	1	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent	33
HP:0001382	HP:0005692	Joint hyperflexibility	1	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99		27
HP:0001382	HP:0005639	Hyperextensible hand joints	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability		27
HP:0001382	HP:0005692	Joint hyperflexibility	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040282 - Frequent	546
HP:0001382	HP:0005692	Joint hyperflexibility	1	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53	HP:0040282 - Frequent	7
HP:0001382	HP:0005692	Joint hyperflexibility	1	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53		7
HP:0001382	HP:0005692	Joint hyperflexibility	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001382	HP:0005692	Joint hyperflexibility	1	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0001382	HP:0005692	Joint hyperflexibility	1	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	95
HP:0001382	HP:0005692	Joint hyperflexibility	1	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	136
HP:0001382	HP:0005692	Joint hyperflexibility	1	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent	14
HP:0001382	HP:0005692	Joint hyperflexibility	1	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040283 - Occasional	5
HP:0001382	HP:0006094	Finger joint hypermobility	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0001382	HP:0006094	Finger joint hypermobility	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0001382	HP:0005692	Joint hyperflexibility	1	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent	10
HP:0001382	HP:0005692	Joint hyperflexibility	1	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent	397
HP:0001382	HP:0001187	Hyperextensibility of the finger joints	2	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis		78
HP:0001382	HP:0001187	Hyperextensibility of the finger joints	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.	276
HP:0001382	HP:0006149	Increased laxity of fingers	2	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	65
HP:0001382	HP:0006201	Hypermobility of distal interphalangeal joints	2	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040282 - Frequent	243
HP:0001382	HP:0001187	Hyperextensibility of the finger joints	2	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2	.	243
HP:0001382	HP:0006201	Hypermobility of distal interphalangeal joints	2	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.	749
HP:0001382	HP:0001187	Hyperextensibility of the finger joints	2	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0001382	HP:0006149	Increased laxity of fingers	2	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	442
HP:0001382	HP:0006149	Increased laxity of fingers	2	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0001382	HP:0006149	Increased laxity of fingers	2	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	478
HP:0001382	HP:0006149	Increased laxity of fingers	2	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0001382	HP:0006149	Increased laxity of fingers	2	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	702
HP:0001382	HP:0006149	Increased laxity of fingers	2	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0001382	HP:0006149	Increased laxity of fingers	2	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040282 - Frequent	89
HP:0001382	HP:0006201	Hypermobility of distal interphalangeal joints	2	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D		37
HP:0001382	HP:0001187	Hyperextensibility of the finger joints	2	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0001382	HP:0001187	Hyperextensibility of the finger joints	2	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0001382	HP:0001187	Hyperextensibility of the finger joints	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001382	HP:0001187	Hyperextensibility of the finger joints	2	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.	52
HP:0001382	HP:0001187	Hyperextensibility of the finger joints	2	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0001382	HP:0001187	Hyperextensibility of the finger joints	2	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0001382	HP:0001187	Hyperextensibility of the finger joints	2	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V		8
HP:0001382	HP:0001187	Hyperextensibility of the finger joints	2	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.	13
HP:0001382	HP:0001187	Hyperextensibility of the finger joints	2	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:0001382	HP:0001187	Hyperextensibility of the finger joints	2	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome		228
HP:0001382	HP:0001187	Hyperextensibility of the finger joints	2	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	.
HP:0001382	HP:0001187	Hyperextensibility of the finger joints	2	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040282 - Frequent	4
HP:0001382	HP:0001187	Hyperextensibility of the finger joints	2	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040283 - Occasional	7
HP:0001382	HP:0001187	Hyperextensibility of the finger joints	2	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0001382	HP:0001187	Hyperextensibility of the finger joints	2	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent	3
HP:0001382	HP:0001187	Hyperextensibility of the finger joints	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0001382	HP:0001187	Hyperextensibility of the finger joints	2	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0001382	HP:0001187	Hyperextensibility of the finger joints	2	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0001382	HP:0001187	Hyperextensibility of the finger joints	2	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.	19
HP:0001382	HP:0001187	Hyperextensibility of the finger joints	2	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII		34
HP:0001382	HP:0001187	Hyperextensibility of the finger joints	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0001382	HP:0005722	Hyperextensible thumb	2	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27
HP:0001382	HP:0005190	Proximal finger joint hyperextensibility	3	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165