Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of joint mobility (HP:0011729)

Parent Node:
Joint hypermobility (HP:0001382)

..Starting node
..Joint hyperflexibility (HP:0005692)

Term ID:

5692

Name:

Joint hyperflexibility

Synonym:

Joints move beyond expected range of motion

Definition:

Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles.

Comments:

Reference:

HP:0005692

Genes and Diseases:

Child Nodes:

Sister Nodes:

Finger joint hypermobility (HP:0006094)

Generalized joint laxity (HP:0002761)

Hip joint hypermobility (HP:0045087)

Hyperextensibility at elbow (HP:0010485)

Hyperextensibility at wrists (HP:0005072)

Hyperextensible hand joints (HP:0005639)

Hypermobility of interphalangeal joints (HP:0005620)

Knee joint hypermobility (HP:0045086)

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:0005692	HP:0005692	Joint hyperflexibility	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	415
HP:0005692	HP:0005692	Joint hyperflexibility	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	165
HP:0005692	HP:0005692	Joint hyperflexibility	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	72
HP:0005692	HP:0005692	Joint hyperflexibility	0	ALDH18A1 CL E G H	5832	9722	ORPHA:35664	ALDH18A1-related De Barsy syndrome	HP:0040281 - Very frequent	89
HP:0005692	HP:0005692	Joint hyperflexibility	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040281 - Very frequent	8
HP:0005692	HP:0005692	Joint hyperflexibility	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0005692	HP:0005692	Joint hyperflexibility	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040281 - Very frequent	192
HP:0005692	HP:0005692	Joint hyperflexibility	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040281 - Very frequent	192
HP:0005692	HP:0005692	Joint hyperflexibility	0	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	168
HP:0005692	HP:0005692	Joint hyperflexibility	0	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	1
HP:0005692	HP:0005692	Joint hyperflexibility	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional	29
HP:0005692	HP:0005692	Joint hyperflexibility	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005692	HP:0005692	Joint hyperflexibility	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005692	HP:0005692	Joint hyperflexibility	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0005692	HP:0005692	Joint hyperflexibility	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005692	HP:0005692	Joint hyperflexibility	0	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome	HP:0040283 - Occasional	13
HP:0005692	HP:0005692	Joint hyperflexibility	0	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040282 - Frequent	15
HP:0005692	HP:0005692	Joint hyperflexibility	0	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040282 - Frequent	7
HP:0005692	HP:0005692	Joint hyperflexibility	0	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent	85
HP:0005692	HP:0005692	Joint hyperflexibility	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	317
HP:0005692	HP:0005692	Joint hyperflexibility	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	5
HP:0005692	HP:0005692	Joint hyperflexibility	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	9
HP:0005692	HP:0005692	Joint hyperflexibility	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	31
HP:0005692	HP:0005692	Joint hyperflexibility	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	50
HP:0005692	HP:0005692	Joint hyperflexibility	0	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	20
HP:0005692	HP:0005692	Joint hyperflexibility	0	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	161
HP:0005692	HP:0005692	Joint hyperflexibility	0	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	146
HP:0005692	HP:0005692	Joint hyperflexibility	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005692	HP:0005692	Joint hyperflexibility	0	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent	215
HP:0005692	HP:0005692	Joint hyperflexibility	0	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional	177
HP:0005692	HP:0005692	Joint hyperflexibility	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	373
HP:0005692	HP:0005692	Joint hyperflexibility	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	243
HP:0005692	HP:0005692	Joint hyperflexibility	0	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1	HP:0040282 - Frequent	284
HP:0005692	HP:0005692	Joint hyperflexibility	0	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria	HP:0040281 - Very frequent	749
HP:0005692	HP:0005692	Joint hyperflexibility	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0005692	HP:0005692	Joint hyperflexibility	0	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent	110
HP:0005692	HP:0005692	Joint hyperflexibility	0	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent	110
HP:0005692	HP:0005692	Joint hyperflexibility	0	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent	137
HP:0005692	HP:0005692	Joint hyperflexibility	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0005692	HP:0005692	Joint hyperflexibility	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0005692	HP:0005692	Joint hyperflexibility	0	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent
HP:0005692	HP:0005692	Joint hyperflexibility	0	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p	HP:0040283 - Occasional	15
HP:0005692	HP:0005692	Joint hyperflexibility	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040283 - Occasional	38
HP:0005692	HP:0005692	Joint hyperflexibility	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	127
HP:0005692	HP:0005692	Joint hyperflexibility	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005692	HP:0005692	Joint hyperflexibility	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040283 - Occasional	4
HP:0005692	HP:0005692	Joint hyperflexibility	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040282 - Frequent	27
HP:0005692	HP:0005692	Joint hyperflexibility	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005692	HP:0005692	Joint hyperflexibility	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0005692	HP:0005692	Joint hyperflexibility	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	151
HP:0005692	HP:0005692	Joint hyperflexibility	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040282 - Frequent	96
HP:0005692	HP:0005692	Joint hyperflexibility	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040283 - Occasional	81
HP:0005692	HP:0005692	Joint hyperflexibility	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent	1361
HP:0005692	HP:0005692	Joint hyperflexibility	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040282 - Frequent	62
HP:0005692	HP:0005692	Joint hyperflexibility	0	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia	HP:0040282 - Frequent	145
HP:0005692	HP:0005692	Joint hyperflexibility	0	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2	HP:0040281 - Very frequent	145
HP:0005692	HP:0005692	Joint hyperflexibility	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005692	HP:0005692	Joint hyperflexibility	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040282 - Frequent	493
HP:0005692	HP:0005692	Joint hyperflexibility	0	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome	HP:0040281 - Very frequent	493
HP:0005692	HP:0005692	Joint hyperflexibility	0	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome	HP:0040281 - Very frequent	233
HP:0005692	HP:0005692	Joint hyperflexibility	0	GDF5 CL E G H	8200	4220	ORPHA:63442	Angel-shaped phalango-epiphyseal dysplasia	HP:0040283 - Occasional	52
HP:0005692	HP:0005692	Joint hyperflexibility	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	3
HP:0005692	HP:0005692	Joint hyperflexibility	0	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica	HP:0040281 - Very frequent	52
HP:0005692	HP:0005692	Joint hyperflexibility	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0005692	HP:0005692	Joint hyperflexibility	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0005692	HP:0005692	Joint hyperflexibility	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0005692	HP:0005692	Joint hyperflexibility	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0005692	HP:0005692	Joint hyperflexibility	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040282 - Frequent	33
HP:0005692	HP:0005692	Joint hyperflexibility	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0005692	HP:0005692	Joint hyperflexibility	0	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional	90
HP:0005692	HP:0005692	Joint hyperflexibility	0	HOXD13 CL E G H	3239	5136	ORPHA:93387	Brachydactyly type E	HP:0040282 - Frequent	25
HP:0005692	HP:0005692	Joint hyperflexibility	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040282 - Frequent	113
HP:0005692	HP:0005692	Joint hyperflexibility	0	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	93
HP:0005692	HP:0005692	Joint hyperflexibility	0	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	11
HP:0005692	HP:0005692	Joint hyperflexibility	0	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	4
HP:0005692	HP:0005692	Joint hyperflexibility	0	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome	HP:0040283 - Occasional
HP:0005692	HP:0005692	Joint hyperflexibility	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0005692	HP:0005692	Joint hyperflexibility	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040282 - Frequent	141
HP:0005692	HP:0005692	Joint hyperflexibility	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent	53
HP:0005692	HP:0005692	Joint hyperflexibility	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent	660
HP:0005692	HP:0005692	Joint hyperflexibility	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	196
HP:0005692	HP:0005692	Joint hyperflexibility	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0005692	HP:0005692	Joint hyperflexibility	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	88
HP:0005692	HP:0005692	Joint hyperflexibility	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005692	HP:0005692	Joint hyperflexibility	0	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation	HP:0040283 - Occasional	645
HP:0005692	HP:0005692	Joint hyperflexibility	0	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome	HP:0040282 - Frequent	8
HP:0005692	HP:0005692	Joint hyperflexibility	0	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent	4
HP:0005692	HP:0005692	Joint hyperflexibility	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	43
HP:0005692	HP:0005692	Joint hyperflexibility	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0005692	HP:0005692	Joint hyperflexibility	0	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent	228
HP:0005692	HP:0005692	Joint hyperflexibility	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0005692	HP:0005692	Joint hyperflexibility	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0005692	HP:0005692	Joint hyperflexibility	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0005692	HP:0005692	Joint hyperflexibility	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0005692	HP:0005692	Joint hyperflexibility	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040281 - Very frequent	40
HP:0005692	HP:0005692	Joint hyperflexibility	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040282 - Frequent	138
HP:0005692	HP:0005692	Joint hyperflexibility	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040282 - Frequent	144
HP:0005692	HP:0005692	Joint hyperflexibility	0	NPR2 CL E G H	4882	7944	ORPHA:40	Acromesomelic dysplasia, Maroteaux type	HP:0040282 - Frequent	53
HP:0005692	HP:0005692	Joint hyperflexibility	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	102
HP:0005692	HP:0005692	Joint hyperflexibility	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040283 - Occasional	544
HP:0005692	HP:0005692	Joint hyperflexibility	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	84
HP:0005692	HP:0005692	Joint hyperflexibility	0	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent
HP:0005692	HP:0005692	Joint hyperflexibility	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	143
HP:0005692	HP:0005692	Joint hyperflexibility	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent	88
HP:0005692	HP:0005692	Joint hyperflexibility	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	53
HP:0005692	HP:0005692	Joint hyperflexibility	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	21
HP:0005692	HP:0005692	Joint hyperflexibility	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	39
HP:0005692	HP:0005692	Joint hyperflexibility	0	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome	HP:0040283 - Occasional	2
HP:0005692	HP:0005692	Joint hyperflexibility	0	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional
HP:0005692	HP:0005692	Joint hyperflexibility	0	PAX2 CL E G H	5076	8616	ORPHA:1475	Renal coloboma syndrome	HP:0040283 - Occasional	39
HP:0005692	HP:0005692	Joint hyperflexibility	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040282 - Frequent	531
HP:0005692	HP:0005692	Joint hyperflexibility	0	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	531
HP:0005692	HP:0005692	Joint hyperflexibility	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040283 - Occasional	29
HP:0005692	HP:0005692	Joint hyperflexibility	0	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0040282 - Frequent	162
HP:0005692	HP:0005692	Joint hyperflexibility	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040281 - Very frequent	43
HP:0005692	HP:0005692	Joint hyperflexibility	0	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	11
HP:0005692	HP:0005692	Joint hyperflexibility	0	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:0005692	HP:0005692	Joint hyperflexibility	0	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent	58
HP:0005692	HP:0005692	Joint hyperflexibility	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040282 - Frequent	665
HP:0005692	HP:0005692	Joint hyperflexibility	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040281 - Very frequent	6
HP:0005692	HP:0005692	Joint hyperflexibility	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional	948
HP:0005692	HP:0005692	Joint hyperflexibility	0	PTHLH CL E G H	5744	9607	ORPHA:93387	Brachydactyly type E	HP:0040282 - Frequent	6
HP:0005692	HP:0005692	Joint hyperflexibility	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	291
HP:0005692	HP:0005692	Joint hyperflexibility	0	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica	HP:0040281 - Very frequent	53
HP:0005692	HP:0005692	Joint hyperflexibility	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	212
HP:0005692	HP:0005692	Joint hyperflexibility	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	3
HP:0005692	HP:0005692	Joint hyperflexibility	0	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	68
HP:0005692	HP:0005692	Joint hyperflexibility	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005692	HP:0005692	Joint hyperflexibility	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	39
HP:0005692	HP:0005692	Joint hyperflexibility	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040283 - Occasional	37
HP:0005692	HP:0005692	Joint hyperflexibility	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040281 - Very frequent	65
HP:0005692	HP:0005692	Joint hyperflexibility	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0005692	HP:0005692	Joint hyperflexibility	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	1
HP:0005692	HP:0005692	Joint hyperflexibility	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0005692	HP:0005692	Joint hyperflexibility	0	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement	HP:0040282 - Frequent	1200
HP:0005692	HP:0005692	Joint hyperflexibility	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040283 - Occasional	34
HP:0005692	HP:0005692	Joint hyperflexibility	0	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040283 - Occasional	2
HP:0005692	HP:0005692	Joint hyperflexibility	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0005692	HP:0005692	Joint hyperflexibility	0	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome	HP:0040283 - Occasional	5
HP:0005692	HP:0005692	Joint hyperflexibility	0	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p	HP:0040283 - Occasional	6
HP:0005692	HP:0005692	Joint hyperflexibility	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent	150
HP:0005692	HP:0005692	Joint hyperflexibility	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040283 - Occasional	166
HP:0005692	HP:0005692	Joint hyperflexibility	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040282 - Frequent	178
HP:0005692	HP:0005692	Joint hyperflexibility	0	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency	HP:0040283 - Occasional	122
HP:0005692	HP:0005692	Joint hyperflexibility	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040283 - Occasional	93
HP:0005692	HP:0005692	Joint hyperflexibility	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040283 - Occasional	15
HP:0005692	HP:0005692	Joint hyperflexibility	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	315
HP:0005692	HP:0005692	Joint hyperflexibility	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	30
HP:0005692	HP:0005692	Joint hyperflexibility	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0005692	HP:0005692	Joint hyperflexibility	0	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040282 - Frequent	110
HP:0005692	HP:0005692	Joint hyperflexibility	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005692	HP:0005692	Joint hyperflexibility	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040283 - Occasional	1
HP:0005692	HP:0005692	Joint hyperflexibility	0	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome	HP:0040283 - Occasional	11
HP:0005692	HP:0005692	Joint hyperflexibility	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005692	HP:0005692	Joint hyperflexibility	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0005692	HP:0005692	Joint hyperflexibility	0	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040283 - Occasional	6
HP:0005692	HP:0005692	Joint hyperflexibility	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0005692	HP:0005692	Joint hyperflexibility	0	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome	HP:0040283 - Occasional	239
HP:0005692	HP:0005692	Joint hyperflexibility	0	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome	HP:0040283 - Occasional	253
HP:0005692	HP:0005692	Joint hyperflexibility	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005692	HP:0005692	Joint hyperflexibility	0	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1	HP:0040281 - Very frequent	134
HP:0005692	HP:0005692	Joint hyperflexibility	0	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	2
HP:0005692	HP:0005692	Joint hyperflexibility	0	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia	HP:0040281 - Very frequent	133
HP:0005692	HP:0005692	Joint hyperflexibility	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040282 - Frequent	171
HP:0005692	HP:0005692	Joint hyperflexibility	0	UBE3A CL E G H	7337	12496	ORPHA:238446	15q11q13 microduplication syndrome	HP:0040283 - Occasional	278
HP:0005692	HP:0005692	Joint hyperflexibility	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0005692	HP:0005692	Joint hyperflexibility	0	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent	33
HP:0005692	HP:0005692	Joint hyperflexibility	0	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99		27
HP:0005692	HP:0005692	Joint hyperflexibility	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040282 - Frequent	546
HP:0005692	HP:0005692	Joint hyperflexibility	0	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53	HP:0040282 - Frequent	7
HP:0005692	HP:0005692	Joint hyperflexibility	0	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53		7
HP:0005692	HP:0005692	Joint hyperflexibility	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005692	HP:0005692	Joint hyperflexibility	0	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0005692	HP:0005692	Joint hyperflexibility	0	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	95
HP:0005692	HP:0005692	Joint hyperflexibility	0	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	136
HP:0005692	HP:0005692	Joint hyperflexibility	0	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent	14
HP:0005692	HP:0005692	Joint hyperflexibility	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040283 - Occasional	5
HP:0005692	HP:0005692	Joint hyperflexibility	0	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent	10
HP:0005692	HP:0005692	Joint hyperflexibility	0	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent	397

Genes (173) :ABCC6 ADAMTS2 ADAMTSL2 ALDH18A1 ANTXR1 ARVCF ATP7A ATR ATRIP B4GALT7 BAZ1B BCL7B BCR BUD23 C12ORF57 C1R C1S CANT1 CBL CCDC8 CDC45 CDC6 CDT1 CENPE CENPJ CEP152 CLIP2 COL11A1 COL18A1 COL1A1 COL1A2 COL2A1 COL3A1 COL9A1 COL9A2 COL9A3 COMT CRKL CSGALNACT1 CTNND2 CUL4B CUL7 DNAJC30 EED EFNB1 EIF4H ELN ENPP1 EXT1 EZH2 FBN1 FGD1 FGFR3 FKBP6 FLNA FLNB GDF5 GMNN GORAB GP1BB GTF2I GTF2IRD1 GTF2IRD2 HDAC4 HIRA HNF1B HOXD13 HRAS IFT122 IFT43 IFT52 IPO8 JMJD1C KAT6B KDM6A KMT2D KRAS LBR LIG4 LIMK1 LMNA LONP1 LOXL3 LZTR1 MAPK1 MED12 METTL27 MLXIPL MRAS NCF1 NFIX NOTCH2 NOTCH3 NPR2 NRAS NSD1 NSUN2 NUP85 OBSL1 OCRL ORC1 ORC4 ORC6 P4HB PAK2 PAX2 PCNT PHF6 PIK3CA PIK3R1 PLK4 PLOD1 PRDM5 PTCH1 PTDSS1 PTEN PTHLH PTPN11 PYCR1 RAF1 RASA2 RBBP8 RFC2 RIT1 RMRP RPS6KA3 RRAS RRAS2 RREB1 RYR1 SATB2 SEC23A SEC24C SEC24D SEMA5A SKI SLC26A2 SLC2A10 SLC6A8 SLC9A6 SMOC1 SOS1 SOS2 SPRED2 STAT3 STX1A SUZ12 TAB2 TBL2 TBX1 TGDS TGFB2 TGFBR1 TGFBR2 TMEM270 TNXB TRAIP TRIP11 TRPS1 UBE3A UFD1 UPF3B USP9X VPS13B VPS37A VPS37D WASF1 WDR19 WDR35 XYLT1 XYLT2 ZDHHC9 ZNF469

Diseases (89) :ORPHA:758 ORPHA:1901 ORPHA:35664 ORPHA:2067 ORPHA:567 ORPHA:565 ORPHA:198 ORPHA:808 ORPHA:75496 ORPHA:904 ORPHA:261330 ORPHA:1777 ORPHA:75392 ORPHA:1425 ORPHA:648 ORPHA:2616 ORPHA:2554 ORPHA:250984 ORPHA:1571 ORPHA:1899 ORPHA:90653 ORPHA:2500 ORPHA:286 ORPHA:281 ORPHA:85293 ORPHA:3447 ORPHA:1520 ORPHA:502 ORPHA:2462 ORPHA:915 ORPHA:429 ORPHA:93274 ORPHA:2484 ORPHA:75497 ORPHA:503 ORPHA:63442 ORPHA:2078 ORPHA:1001 ORPHA:93111 ORPHA:93387 ORPHA:3071 ORPHA:1515 ORPHA:60030 ORPHA:3047 ORPHA:2322 OMIM:618019 ORPHA:235 ORPHA:157973 ORPHA:1458 ORPHA:776 ORPHA:561 ORPHA:955 ORPHA:2789 ORPHA:40 ORPHA:534 ORPHA:2050 ORPHA:1475 ORPHA:2637 ORPHA:127 ORPHA:60040 ORPHA:3163 ORPHA:1900 ORPHA:90354 ORPHA:77301 ORPHA:2658 ORPHA:109 ORPHA:175 ORPHA:192 ORPHA:178145 ORPHA:251019 ORPHA:50814 ORPHA:628 ORPHA:3342 ORPHA:52503 ORPHA:85278 ORPHA:1106 ORPHA:2314 ORPHA:228410 ORPHA:1388 OMIM:614816 ORPHA:230839 ORPHA:166272 ORPHA:238446 OMIM:300919 ORPHA:193 ORPHA:319199 OMIM:614898 OMIM:618707 ORPHA:85194

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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