Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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
..Generalized joint laxity (HP:0002761)

Term ID:

2761

Name:

Generalized joint laxity

Synonym:

Generalised joint laxity; Hypermobility of all joints; Joint laxity, generalised; Joint laxity, generalized

Definition:

Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body.

Comments:

Reference:

HP:0002761

Genes and Diseases:

Child Nodes:

Sister Nodes:

Finger joint hypermobility (HP:0006094)

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)

Joint hyperflexibility (HP:0005692)

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:0002761	HP:0002761	Generalized joint laxity	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0002761	HP:0002761	Generalized joint laxity	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040284 - Very rare	49
HP:0002761	HP:0002761	Generalized joint laxity	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040284 - Very rare	48
HP:0002761	HP:0002761	Generalized joint laxity	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040284 - Very rare	41
HP:0002761	HP:0002761	Generalized joint laxity	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040284 - Very rare	18
HP:0002761	HP:0002761	Generalized joint laxity	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0002761	HP:0002761	Generalized joint laxity	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0002761	HP:0002761	Generalized joint laxity	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0002761	HP:0002761	Generalized joint laxity	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0002761	HP:0002761	Generalized joint laxity	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	HP:0040283 - Occasional	15
HP:0002761	HP:0002761	Generalized joint laxity	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	515
HP:0002761	HP:0002761	Generalized joint laxity	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0002761	HP:0002761	Generalized joint laxity	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	27
HP:0002761	HP:0002761	Generalized joint laxity	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent	373
HP:0002761	HP:0002761	Generalized joint laxity	0	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis	HP:0040281 - Very frequent	284
HP:0002761	HP:0002761	Generalized joint laxity	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent	660
HP:0002761	HP:0002761	Generalized joint laxity	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent	325
HP:0002761	HP:0002761	Generalized joint laxity	0	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2	.	325
HP:0002761	HP:0002761	Generalized joint laxity	0	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1	.	89
HP:0002761	HP:0002761	Generalized joint laxity	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040282 - Frequent	89
HP:0002761	HP:0002761	Generalized joint laxity	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	13
HP:0002761	HP:0002761	Generalized joint laxity	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	4
HP:0002761	HP:0002761	Generalized joint laxity	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	3
HP:0002761	HP:0002761	Generalized joint laxity	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	17
HP:0002761	HP:0002761	Generalized joint laxity	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	172
HP:0002761	HP:0002761	Generalized joint laxity	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.	145
HP:0002761	HP:0002761	Generalized joint laxity	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	15
HP:0002761	HP:0002761	Generalized joint laxity	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	92
HP:0002761	HP:0002761	Generalized joint laxity	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	8
HP:0002761	HP:0002761	Generalized joint laxity	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0002761	HP:0002761	Generalized joint laxity	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040282 - Frequent	14
HP:0002761	HP:0002761	Generalized joint laxity	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	3
HP:0002761	HP:0002761	Generalized joint laxity	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	14
HP:0002761	HP:0002761	Generalized joint laxity	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome	.	8
HP:0002761	HP:0002761	Generalized joint laxity	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent	3
HP:0002761	HP:0002761	Generalized joint laxity	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0002761	HP:0002761	Generalized joint laxity	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0002761	HP:0002761	Generalized joint laxity	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	6
HP:0002761	HP:0002761	Generalized joint laxity	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		11
HP:0002761	HP:0002761	Generalized joint laxity	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040282 - Frequent	105
HP:0002761	HP:0002761	Generalized joint laxity	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	9
HP:0002761	HP:0002761	Generalized joint laxity	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	34
HP:0002761	HP:0002761	Generalized joint laxity	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040282 - Frequent	19
HP:0002761	HP:0002761	Generalized joint laxity	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0002761	HP:0002761	Generalized joint laxity	0	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.	52
HP:0002761	HP:0002761	Generalized joint laxity	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	5
HP:0002761	HP:0002761	Generalized joint laxity	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	6
HP:0002761	HP:0002761	Generalized joint laxity	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	34
HP:0002761	HP:0002761	Generalized joint laxity	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0002761	HP:0002761	Generalized joint laxity	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	10

Genes (46) :AEBP1 AP4B1 AP4E1 AP4M1 AP4S1 ATP6V0A2 ATP6V1A ATP6V1E1 C1R CHD7 CHST14 COL1A1 COL2A1 COL5A1 COL5A2 COMP DSE DUSP6 FGF17 FGF8 FGFR1 FGFR3 GNRH1 GNRHR HS6ST1 IPO8 KIF22 KISS1 KISS1R LONP1 MCTP2 MED12 MSTO1 NSMF PHIP PLOD1 PROK2 PROKR2 PUF60 SATB2 SERPINH1 SPRY4 TAC3 TACR3 TONSL WDR11

Diseases (26) :OMIM:618000 ORPHA:280763 ORPHA:357074 ORPHA:2834 OMIM:130080 ORPHA:432 OMIM:601776 ORPHA:2953 ORPHA:287 ORPHA:85198 OMIM:130010 OMIM:132400 ORPHA:750 OMIM:100800 OMIM:619472 ORPHA:93360 OMIM:600373 ORPHA:1596 ORPHA:93932 ORPHA:502423 ORPHA:589905 ORPHA:1900 ORPHA:508498 ORPHA:251028 OMIM:613848 ORPHA:93357

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen