Human Phenotype Ontology

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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:
Abnormal joint morphology (HP:0001367)

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

..Starting node
..Joint laxity (HP:0001388)

Term ID:

1388

Name:

Joint laxity

Synonym:

Hyperlaxity; Joint instability; Joint ligamentous laxity; Lax joints; Ligamentous laxity; Loose-jointedness; Loosejointedness

Definition:

Lack of stability of a joint.

Comments:

Reference:

HP:0001388

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of hand joint mobility (HP:0006256)

Flexion contracture (HP:0001371)

Joint hypermobility (HP:0001382)

Limitation of joint mobility (HP:0001376)

Synostosis of joints (HP:0100240)

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:0001388	HP:0001388	Joint laxity	0	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type	HP:0040281 - Very frequent	34
HP:0001388	HP:0001388	Joint laxity	0	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type		34
HP:0001388	HP:0001388	Joint laxity	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0001388	HP:0001388	Joint laxity	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040282 - Frequent	47
HP:0001388	HP:0001388	Joint laxity	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome	.	47
HP:0001388	HP:0001388	Joint laxity	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0001388	HP:0001388	Joint laxity	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0001388	HP:0001388	Joint laxity	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	127
HP:0001388	HP:0001388	Joint laxity	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040282 - Frequent	36
HP:0001388	HP:0001388	Joint laxity	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0001388	HP:0001388	Joint laxity	0	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	12
HP:0001388	HP:0001388	Joint laxity	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0001388	HP:0001388	Joint laxity	0	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	46
HP:0001388	HP:0001388	Joint laxity	0	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14		46
HP:0001388	HP:0001388	Joint laxity	0	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0001388	HP:0001388	Joint laxity	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		49
HP:0001388	HP:0001388	Joint laxity	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		48
HP:0001388	HP:0001388	Joint laxity	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		41
HP:0001388	HP:0001388	Joint laxity	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		18
HP:0001388	HP:0001388	Joint laxity	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	1
HP:0001388	HP:0001388	Joint laxity	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay		3
HP:0001388	HP:0001388	Joint laxity	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	88
HP:0001388	HP:0001388	Joint laxity	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	219
HP:0001388	HP:0001388	Joint laxity	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0001388	HP:0001388	Joint laxity	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	25
HP:0001388	HP:0001388	Joint laxity	0	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs		4
HP:0001388	HP:0001388	Joint laxity	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0001388	HP:0001388	Joint laxity	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0001388	HP:0001388	Joint laxity	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0001388	HP:0001388	Joint laxity	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0001388	HP:0001388	Joint laxity	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.	2
HP:0001388	HP:0001388	Joint laxity	0	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease	.	192
HP:0001388	HP:0001388	Joint laxity	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0001388	HP:0001388	Joint laxity	0	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2	.	38
HP:0001388	HP:0001388	Joint laxity	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040281 - Very frequent	38
HP:0001388	HP:0001388	Joint laxity	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0001388	HP:0001388	Joint laxity	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0001388	HP:0001388	Joint laxity	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0001388	HP:0001388	Joint laxity	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001388	HP:0001388	Joint laxity	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001388	HP:0001388	Joint laxity	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0001388	HP:0001388	Joint laxity	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001388	HP:0001388	Joint laxity	0	C12ORF4 CL E G H	57102	1184	OMIM:618221	Mental retardation, autosomal recessive 66		2
HP:0001388	HP:0001388	Joint laxity	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	.	15
HP:0001388	HP:0001388	Joint laxity	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0001388	HP:0001388	Joint laxity	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.	317
HP:0001388	HP:0001388	Joint laxity	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0001388	HP:0001388	Joint laxity	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0001388	HP:0001388	Joint laxity	0	CEP104 CL E G H	9731	24866	OMIM:619988			5
HP:0001388	HP:0001388	Joint laxity	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	65
HP:0001388	HP:0001388	Joint laxity	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		515
HP:0001388	HP:0001388	Joint laxity	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0001388	HP:0001388	Joint laxity	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0001388	HP:0001388	Joint laxity	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001388	HP:0001388	Joint laxity	0	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2		65
HP:0001388	HP:0001388	Joint laxity	0	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19		6
HP:0001388	HP:0001388	Joint laxity	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	6
HP:0001388	HP:0001388	Joint laxity	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0001388	HP:0001388	Joint laxity	0	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1	.	373
HP:0001388	HP:0001388	Joint laxity	0	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form	.	243
HP:0001388	HP:0001388	Joint laxity	0	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis		284
HP:0001388	HP:0001388	Joint laxity	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0001388	HP:0001388	Joint laxity	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0001388	HP:0001388	Joint laxity	0	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0001388	HP:0001388	Joint laxity	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1		442
HP:0001388	HP:0001388	Joint laxity	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1		478
HP:0001388	HP:0001388	Joint laxity	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1		702
HP:0001388	HP:0001388	Joint laxity	0	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1		89
HP:0001388	HP:0001388	Joint laxity	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0001388	HP:0001388	Joint laxity	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040281 - Very frequent	89
HP:0001388	HP:0001388	Joint laxity	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0001388	HP:0001388	Joint laxity	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional	291
HP:0001388	HP:0001388	Joint laxity	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0001388	HP:0001388	Joint laxity	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001388	HP:0001388	Joint laxity	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0001388	HP:0001388	Joint laxity	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type	.	38
HP:0001388	HP:0001388	Joint laxity	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0001388	HP:0001388	Joint laxity	0	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome	.	5
HP:0001388	HP:0001388	Joint laxity	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0001388	HP:0001388	Joint laxity	0	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040283 - Occasional
HP:0001388	HP:0001388	Joint laxity	0	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type	.
HP:0001388	HP:0001388	Joint laxity	0	DDX3X CL E G H	1654	2745	ORPHA:457260	X-linked intellectual disability-hypotonia-movement disorder syndrome	HP:0040283 - Occasional	57
HP:0001388	HP:0001388	Joint laxity	0	DLG4 CL E G H	1742	2903	OMIM:618793	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62		2
HP:0001388	HP:0001388	Joint laxity	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent	1
HP:0001388	HP:0001388	Joint laxity	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001388	HP:0001388	Joint laxity	0	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	38
HP:0001388	HP:0001388	Joint laxity	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0001388	HP:0001388	Joint laxity	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0001388	HP:0001388	Joint laxity	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		4
HP:0001388	HP:0001388	Joint laxity	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome	.	4
HP:0001388	HP:0001388	Joint laxity	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent	45
HP:0001388	HP:0001388	Joint laxity	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0001388	HP:0001388	Joint laxity	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001388	HP:0001388	Joint laxity	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0001388	HP:0001388	Joint laxity	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0001388	HP:0001388	Joint laxity	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0001388	HP:0001388	Joint laxity	0	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB		1
HP:0001388	HP:0001388	Joint laxity	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0001388	HP:0001388	Joint laxity	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0001388	HP:0001388	Joint laxity	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040282 - Frequent	36
HP:0001388	HP:0001388	Joint laxity	0	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040281 - Very frequent	3
HP:0001388	HP:0001388	Joint laxity	0	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	.	3
HP:0001388	HP:0001388	Joint laxity	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0001388	HP:0001388	Joint laxity	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0001388	HP:0001388	Joint laxity	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0001388	HP:0001388	Joint laxity	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent	63
HP:0001388	HP:0001388	Joint laxity	0	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA	.	63
HP:0001388	HP:0001388	Joint laxity	0	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects	.
HP:0001388	HP:0001388	Joint laxity	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0001388	HP:0001388	Joint laxity	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0001388	HP:0001388	Joint laxity	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		17
HP:0001388	HP:0001388	Joint laxity	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		172
HP:0001388	HP:0001388	Joint laxity	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0001388	HP:0001388	Joint laxity	0	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1	.	61
HP:0001388	HP:0001388	Joint laxity	0	FKBP10 CL E G H	60681	18169	OMIM:610968	Osteogenesis imperfecta, type XI	.	61
HP:0001388	HP:0001388	Joint laxity	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001388	HP:0001388	Joint laxity	0	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked	HP:0040284 - Very rare	493
HP:0001388	HP:0001388	Joint laxity	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.	233
HP:0001388	HP:0001388	Joint laxity	0	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome	.	30
HP:0001388	HP:0001388	Joint laxity	0	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome	HP:0040281 - Very frequent	30
HP:0001388	HP:0001388	Joint laxity	0	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040284 - Very rare	30
HP:0001388	HP:0001388	Joint laxity	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0001388	HP:0001388	Joint laxity	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.	123
HP:0001388	HP:0001388	Joint laxity	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0001388	HP:0001388	Joint laxity	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040283 - Occasional	33
HP:0001388	HP:0001388	Joint laxity	0	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	128
HP:0001388	HP:0001388	Joint laxity	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0001388	HP:0001388	Joint laxity	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0001388	HP:0001388	Joint laxity	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.	120
HP:0001388	HP:0001388	Joint laxity	0	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	34
HP:0001388	HP:0001388	Joint laxity	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001388	HP:0001388	Joint laxity	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		15
HP:0001388	HP:0001388	Joint laxity	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		92
HP:0001388	HP:0001388	Joint laxity	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0001388	HP:0001388	Joint laxity	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001388	HP:0001388	Joint laxity	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001388	HP:0001388	Joint laxity	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001388	HP:0001388	Joint laxity	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0001388	HP:0001388	Joint laxity	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.	16
HP:0001388	HP:0001388	Joint laxity	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040283 - Occasional	16
HP:0001388	HP:0001388	Joint laxity	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0001388	HP:0001388	Joint laxity	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0001388	HP:0001388	Joint laxity	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0001388	HP:0001388	Joint laxity	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0001388	HP:0001388	Joint laxity	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		8
HP:0001388	HP:0001388	Joint laxity	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040283 - Occasional
HP:0001388	HP:0001388	Joint laxity	0	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040283 - Occasional
HP:0001388	HP:0001388	Joint laxity	0	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy	.
HP:0001388	HP:0001388	Joint laxity	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0001388	HP:0001388	Joint laxity	0	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3	.	11
HP:0001388	HP:0001388	Joint laxity	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001388	HP:0001388	Joint laxity	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040282 - Frequent	283
HP:0001388	HP:0001388	Joint laxity	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040282 - Frequent	283
HP:0001388	HP:0001388	Joint laxity	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0001388	HP:0001388	Joint laxity	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	193
HP:0001388	HP:0001388	Joint laxity	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	128
HP:0001388	HP:0001388	Joint laxity	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0001388	HP:0001388	Joint laxity	0	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	.	14
HP:0001388	HP:0001388	Joint laxity	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040281 - Very frequent	14
HP:0001388	HP:0001388	Joint laxity	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0001388	HP:0001388	Joint laxity	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		14
HP:0001388	HP:0001388	Joint laxity	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001388	HP:0001388	Joint laxity	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0001388	HP:0001388	Joint laxity	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040282 - Frequent	125
HP:0001388	HP:0001388	Joint laxity	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent
HP:0001388	HP:0001388	Joint laxity	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0001388	HP:0001388	Joint laxity	0	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.	92
HP:0001388	HP:0001388	Joint laxity	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0001388	HP:0001388	Joint laxity	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0001388	HP:0001388	Joint laxity	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0001388	HP:0001388	Joint laxity	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.	11
HP:0001388	HP:0001388	Joint laxity	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0001388	HP:0001388	Joint laxity	0	MARS1 CL E G H	4141	6898	OMIM:619692	TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0001388	HP:0001388	Joint laxity	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0001388	HP:0001388	Joint laxity	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0001388	HP:0001388	Joint laxity	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.	228
HP:0001388	HP:0001388	Joint laxity	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent	1
HP:0001388	HP:0001388	Joint laxity	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001388	HP:0001388	Joint laxity	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0001388	HP:0001388	Joint laxity	0	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28		127
HP:0001388	HP:0001388	Joint laxity	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001388	HP:0001388	Joint laxity	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0001388	HP:0001388	Joint laxity	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040283 - Occasional	532
HP:0001388	HP:0001388	Joint laxity	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0001388	HP:0001388	Joint laxity	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare
HP:0001388	HP:0001388	Joint laxity	0	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	HP:0040283 - Occasional	8
HP:0001388	HP:0001388	Joint laxity	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0001388	HP:0001388	Joint laxity	0	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0001388	HP:0001388	Joint laxity	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0001388	HP:0001388	Joint laxity	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0001388	HP:0001388	Joint laxity	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0001388	HP:0001388	Joint laxity	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.	53
HP:0001388	HP:0001388	Joint laxity	0	NPR3 CL E G H	4883	7945	OMIM:619543	BOUDIN-MORTIER SYNDROME; BOMOS
HP:0001388	HP:0001388	Joint laxity	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	544
HP:0001388	HP:0001388	Joint laxity	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0001388	HP:0001388	Joint laxity	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0001388	HP:0001388	Joint laxity	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0001388	HP:0001388	Joint laxity	0	OTX2 CL E G H	5015	8522	OMIM:610125	Microphthalmia, syndromic 5	.	41
HP:0001388	HP:0001388	Joint laxity	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.	43
HP:0001388	HP:0001388	Joint laxity	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome	.	39
HP:0001388	HP:0001388	Joint laxity	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional	113
HP:0001388	HP:0001388	Joint laxity	0	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B		82
HP:0001388	HP:0001388	Joint laxity	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		11
HP:0001388	HP:0001388	Joint laxity	0	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040282 - Frequent	7
HP:0001388	HP:0001388	Joint laxity	0	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55	.	2
HP:0001388	HP:0001388	Joint laxity	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0001388	HP:0001388	Joint laxity	0	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.	162
HP:0001388	HP:0001388	Joint laxity	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.	43
HP:0001388	HP:0001388	Joint laxity	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040283 - Occasional
HP:0001388	HP:0001388	Joint laxity	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0001388	HP:0001388	Joint laxity	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency		105
HP:0001388	HP:0001388	Joint laxity	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent	150
HP:0001388	HP:0001388	Joint laxity	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare	35
HP:0001388	HP:0001388	Joint laxity	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.	35
HP:0001388	HP:0001388	Joint laxity	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0001388	HP:0001388	Joint laxity	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0001388	HP:0001388	Joint laxity	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	2
HP:0001388	HP:0001388	Joint laxity	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		9
HP:0001388	HP:0001388	Joint laxity	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0001388	HP:0001388	Joint laxity	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040282 - Frequent	19
HP:0001388	HP:0001388	Joint laxity	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0001388	HP:0001388	Joint laxity	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0001388	HP:0001388	Joint laxity	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.	135
HP:0001388	HP:0001388	Joint laxity	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0001388	HP:0001388	Joint laxity	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional	3
HP:0001388	HP:0001388	Joint laxity	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040282 - Frequent	150
HP:0001388	HP:0001388	Joint laxity	0	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB	.	572
HP:0001388	HP:0001388	Joint laxity	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001388	HP:0001388	Joint laxity	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0001388	HP:0001388	Joint laxity	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia		37
HP:0001388	HP:0001388	Joint laxity	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0001388	HP:0001388	Joint laxity	0	RMRP CL E G H	6023	10031	OMIM:250460	Metaphyseal dysplasia without hypotrichosis	.	37
HP:0001388	HP:0001388	Joint laxity	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0001388	HP:0001388	Joint laxity	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent
HP:0001388	HP:0001388	Joint laxity	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0001388	HP:0001388	Joint laxity	0	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040282 - Frequent	1200
HP:0001388	HP:0001388	Joint laxity	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional	1200
HP:0001388	HP:0001388	Joint laxity	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.	1200
HP:0001388	HP:0001388	Joint laxity	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement		34
HP:0001388	HP:0001388	Joint laxity	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.	2
HP:0001388	HP:0001388	Joint laxity	0	SERPINF1 CL E G H	5176	8824	OMIM:613982	Osteogenesis imperfecta, type VI	.	35
HP:0001388	HP:0001388	Joint laxity	0	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.	52
HP:0001388	HP:0001388	Joint laxity	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	60
HP:0001388	HP:0001388	Joint laxity	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0001388	HP:0001388	Joint laxity	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040282 - Frequent	9
HP:0001388	HP:0001388	Joint laxity	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0001388	HP:0001388	Joint laxity	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome	.	150
HP:0001388	HP:0001388	Joint laxity	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	2
HP:0001388	HP:0001388	Joint laxity	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	28
HP:0001388	HP:0001388	Joint laxity	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.	178
HP:0001388	HP:0001388	Joint laxity	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0001388	HP:0001388	Joint laxity	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	9
HP:0001388	HP:0001388	Joint laxity	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine	.	4
HP:0001388	HP:0001388	Joint laxity	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040283 - Occasional	260
HP:0001388	HP:0001388	Joint laxity	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0001388	HP:0001388	Joint laxity	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0001388	HP:0001388	Joint laxity	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	617
HP:0001388	HP:0001388	Joint laxity	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	87
HP:0001388	HP:0001388	Joint laxity	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3		87
HP:0001388	HP:0001388	Joint laxity	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	1
HP:0001388	HP:0001388	Joint laxity	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0001388	HP:0001388	Joint laxity	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	47
HP:0001388	HP:0001388	Joint laxity	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	2
HP:0001388	HP:0001388	Joint laxity	0	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus	.	29
HP:0001388	HP:0001388	Joint laxity	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	14
HP:0001388	HP:0001388	Joint laxity	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0001388	HP:0001388	Joint laxity	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0001388	HP:0001388	Joint laxity	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		5
HP:0001388	HP:0001388	Joint laxity	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001388	HP:0001388	Joint laxity	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	.	138
HP:0001388	HP:0001388	Joint laxity	0	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040284 - Very rare	14
HP:0001388	HP:0001388	Joint laxity	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47		9
HP:0001388	HP:0001388	Joint laxity	0	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040283 - Occasional	9
HP:0001388	HP:0001388	Joint laxity	0	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy	HP:0040283 - Occasional	6
HP:0001388	HP:0001388	Joint laxity	0	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	HP:0040283 - Occasional	6
HP:0001388	HP:0001388	Joint laxity	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001388	HP:0001388	Joint laxity	0	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome	.	1
HP:0001388	HP:0001388	Joint laxity	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional	1
HP:0001388	HP:0001388	Joint laxity	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	4
HP:0001388	HP:0001388	Joint laxity	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0001388	HP:0001388	Joint laxity	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0001388	HP:0001388	Joint laxity	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040283 - Occasional	22
HP:0001388	HP:0001388	Joint laxity	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001388	HP:0001388	Joint laxity	0	TBR1 CL E G H	10716	11590	OMIM:606053	Intellectual developmental disorder with autism and speech delay	HP:0040284 - Very rare	1
HP:0001388	HP:0001388	Joint laxity	0	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18	.	31
HP:0001388	HP:0001388	Joint laxity	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional	12
HP:0001388	HP:0001388	Joint laxity	0	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII	.
HP:0001388	HP:0001388	Joint laxity	0	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.	6
HP:0001388	HP:0001388	Joint laxity	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0001388	HP:0001388	Joint laxity	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0001388	HP:0001388	Joint laxity	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0001388	HP:0001388	Joint laxity	0	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35		5
HP:0001388	HP:0001388	Joint laxity	0	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK	.	24
HP:0001388	HP:0001388	Joint laxity	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001388	HP:0001388	Joint laxity	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0001388	HP:0001388	Joint laxity	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0001388	HP:0001388	Joint laxity	0	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040281 - Very frequent	4
HP:0001388	HP:0001388	Joint laxity	0	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1	HP:0040283 - Occasional	7
HP:0001388	HP:0001388	Joint laxity	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	7
HP:0001388	HP:0001388	Joint laxity	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional	64
HP:0001388	HP:0001388	Joint laxity	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0001388	HP:0001388	Joint laxity	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0001388	HP:0001388	Joint laxity	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.	27
HP:0001388	HP:0001388	Joint laxity	0	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:0001388	HP:0001388	Joint laxity	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	2
HP:0001388	HP:0001388	Joint laxity	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001388	HP:0001388	Joint laxity	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		10
HP:0001388	HP:0001388	Joint laxity	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0001388	HP:0001388	Joint laxity	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2		14
HP:0001388	HP:0001388	Joint laxity	0	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040282 - Frequent	14
HP:0001388	HP:0001388	Joint laxity	0	YWHAG CL E G H	7532	12852	OMIM:617665	Epileptic encephalopathy, early infantile, 56
HP:0001388	HP:0001388	Joint laxity	0	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.	397
HP:0001388	HP:0002761	Generalized joint laxity	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0001388	HP:0020152	Distal joint laxity	1	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14	HP:0040283 - Occasional	46
HP:0001388	HP:0002761	Generalized joint laxity	1	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040284 - Very rare	49
HP:0001388	HP:0002761	Generalized joint laxity	1	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040284 - Very rare	48
HP:0001388	HP:0002761	Generalized joint laxity	1	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040284 - Very rare	41
HP:0001388	HP:0002761	Generalized joint laxity	1	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040284 - Very rare	18
HP:0001388	HP:0002761	Generalized joint laxity	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0001388	HP:0002761	Generalized joint laxity	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0001388	HP:0002761	Generalized joint laxity	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0001388	HP:0002761	Generalized joint laxity	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0001388	HP:0002761	Generalized joint laxity	1	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	HP:0040283 - Occasional	15
HP:0001388	HP:0002761	Generalized joint laxity	1	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	515
HP:0001388	HP:0002761	Generalized joint laxity	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0001388	HP:0002761	Generalized joint laxity	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	27
HP:0001388	HP:0020152	Distal joint laxity	1	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2		65
HP:0001388	HP:0020152	Distal joint laxity	1	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19	HP:0040283 - Occasional	6
HP:0001388	HP:0002761	Generalized joint laxity	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent	373
HP:0001388	HP:0002761	Generalized joint laxity	1	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis	HP:0040281 - Very frequent	284
HP:0001388	HP:0002761	Generalized joint laxity	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent	660
HP:0001388	HP:0002761	Generalized joint laxity	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent	325
HP:0001388	HP:0002761	Generalized joint laxity	1	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2	.	325
HP:0001388	HP:0020152	Distal joint laxity	1	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1		442
HP:0001388	HP:0020152	Distal joint laxity	1	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1		478
HP:0001388	HP:0020152	Distal joint laxity	1	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1		702
HP:0001388	HP:0002761	Generalized joint laxity	1	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1	.	89
HP:0001388	HP:0002761	Generalized joint laxity	1	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040282 - Frequent	89
HP:0001388	HP:0020152	Distal joint laxity	1	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040282 - Frequent	89
HP:0001388	HP:0002761	Generalized joint laxity	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	13
HP:0001388	HP:0002761	Generalized joint laxity	1	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	4
HP:0001388	HP:0002761	Generalized joint laxity	1	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	3
HP:0001388	HP:0002761	Generalized joint laxity	1	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	17
HP:0001388	HP:0002761	Generalized joint laxity	1	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	172
HP:0001388	HP:0002761	Generalized joint laxity	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.	145
HP:0001388	HP:0002761	Generalized joint laxity	1	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	15
HP:0001388	HP:0002761	Generalized joint laxity	1	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	92
HP:0001388	HP:0002761	Generalized joint laxity	1	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	8
HP:0001388	HP:0002761	Generalized joint laxity	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001388	HP:0002761	Generalized joint laxity	1	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040282 - Frequent	14
HP:0001388	HP:0002761	Generalized joint laxity	1	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	3
HP:0001388	HP:0002761	Generalized joint laxity	1	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	14
HP:0001388	HP:0002761	Generalized joint laxity	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome	.	8
HP:0001388	HP:0002761	Generalized joint laxity	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent	3
HP:0001388	HP:0002761	Generalized joint laxity	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0001388	HP:0002761	Generalized joint laxity	1	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0001388	HP:0002761	Generalized joint laxity	1	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	6
HP:0001388	HP:0002761	Generalized joint laxity	1	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		11
HP:0001388	HP:0002761	Generalized joint laxity	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040282 - Frequent	105
HP:0001388	HP:0020152	Distal joint laxity	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040283 - Occasional	105
HP:0001388	HP:0002761	Generalized joint laxity	1	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	9
HP:0001388	HP:0002761	Generalized joint laxity	1	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	34
HP:0001388	HP:0002761	Generalized joint laxity	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040282 - Frequent	19
HP:0001388	HP:0020152	Distal joint laxity	1	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0001388	HP:0002761	Generalized joint laxity	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0001388	HP:0002761	Generalized joint laxity	1	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.	52
HP:0001388	HP:0002761	Generalized joint laxity	1	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	5
HP:0001388	HP:0002761	Generalized joint laxity	1	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	6
HP:0001388	HP:0002761	Generalized joint laxity	1	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	34
HP:0001388	HP:0002761	Generalized joint laxity	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0001388	HP:0002761	Generalized joint laxity	1	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	10

Genes (256) :ACAN ADAMTS2 ADNP AEBP1 AGA AGRN AHDC1 ALDH18A1 ALG14 ALG2 AP1G1 AP4B1 AP4E1 AP4M1 AP4S1 APC2 ARCN1 ARID1A ARID1B ARID2 ASPH ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A B3GALT6 B3GLCT B4GALT7 BAZ1B BCL7B BICRA BUD23 C12ORF4 C1R CANT1 CBL CCDC47 CDC45 CEP104 CHAT CHD7 CHST14 CLIP2 COL12A1 COL13A1 COL1A1 COL1A2 COL2A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COMP CREBBP CSGALNACT1 CTSK CUL4B DCHS1 DCPS DDB1 DDRGK1 DDX3X DLG4 DLK1 DNAJC30 DPAGT1 DPF2 DSE DUSP6 EED EFEMP2 EFNB1 EIF4H ELN EN1 EP300 ERMARD EXOC6B FARSB FAT4 FBLN5 FBXL3 FGD1 FGF17 FGF8 FGFR1 FGFR3 FKBP10 FKBP6 FLNA FLNB FMR1 FOCAD GALNS GATA1 GATAD2B GFPT1 GJA5 GJA8 GLB1 GMPPB GNB2 GNRH1 GNRHR GRIA3 GTF2I GTF2IRD1 GTF2IRD2 H3-3A HERC1 HNRNPH1 HNRNPH2 HNRNPK HS6ST1 HYMAI IARS1 IFT122 IFT43 IPO8 KANSL1 KCNJ2 KCNJ5 KDM6A KIF22 KISS1 KISS1R LIMK1 LONP1 LRP5 LTBP1 LTBP4 MAN1B1 MAN2B1 MAP2K2 MAP3K7 MAPK1 MARS1 MCTP2 MED12 MEG3 METTL27 MICU1 MKS1 MLXIPL MRE11 MSTO1 MYO9A NANS NCF1 NKAP NONO NOTCH2 NPR2 NPR3 NSD1 NSMF ORC1 OTX2 P3H1 PAX2 PDE4D PEX2 PHIP PIGG PIGP PIGS PIK3CA PIK3R1 PLAGL1 PLOD1 PMM2 POGZ POLR3GL PORCN PPP1R15B PROK2 PROKR2 PUF60 PYROXD1 RAB3GAP2 RAC1 RAI1 RET RFC2 RIN2 RMRP ROR2 RTL1 RUSC2 RYR1 SATB2 SEC23A SERPINF1 SERPINH1 SETD2 SHOC2 SIN3A SKI SLC18A3 SLC25A1 SLC2A10 SLC39A13 SLC5A7 SLC6A9 SMAD3 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SNAP25 SOBP SOX11 SOX4 SOX9 SPRY4 SPTBN1 SRCAP STAC3 STAG1 STRADA STX1A SYT1 SYT2 TAC3 TACR3 TBL1XR1 TBL2 TBR1 TCTN3 TELO2 TENT5A TGDS TGFB2 TGFBR1 TGFBR2 THOC2 TMEM165 TMEM270 TONSL TRIM8 TRIP4 TRMT10A TUBB3 UBR1 USB1 USP9X VAMP1 VPS37D WDR11 WDR35 XYLT1 YWHAG ZNF469

Diseases (229) :ORPHA:171866 OMIM:612813 OMIM:225410 ORPHA:404448 OMIM:615873 OMIM:618000 OMIM:208400 ORPHA:98914 ORPHA:412069 ORPHA:90348 ORPHA:353327 OMIM:607906 OMIM:616228 OMIM:619548 ORPHA:280763 ORPHA:821 OMIM:617164 ORPHA:1465 OMIM:135900 OMIM:601552 ORPHA:357074 ORPHA:2834 OMIM:617402 OMIM:309400 OMIM:304150 OMIM:615349 ORPHA:93359 OMIM:271640 OMIM:261540 OMIM:130070 ORPHA:904 OMIM:619325 OMIM:618221 OMIM:130080 OMIM:251450 OMIM:613563 OMIM:618268 OMIM:617063 OMIM:619988 ORPHA:432 OMIM:601776 ORPHA:2953 OMIM:616471 OMIM:616720 ORPHA:287 OMIM:130060 OMIM:225320 ORPHA:85198 OMIM:130010 OMIM:254090 OMIM:132400 OMIM:177170 ORPHA:750 OMIM:180849 ORPHA:353281 ORPHA:353277 OMIM:618870 ORPHA:763 OMIM:300354 OMIM:601390 OMIM:616459 OMIM:619426 ORPHA:93352 OMIM:602557 ORPHA:457260 OMIM:618793 ORPHA:254528 OMIM:617561 ORPHA:90349 OMIM:304110 OMIM:194050 OMIM:619218 ORPHA:353284 ORPHA:75857 OMIM:618395 OMIM:613658 OMIM:615546 OMIM:219100 OMIM:606220 OMIM:305400 OMIM:100800 OMIM:259450 OMIM:610968 OMIM:314400 OMIM:150250 OMIM:300624 ORPHA:908 ORPHA:449291 OMIM:619991 OMIM:253000 OMIM:190685 ORPHA:363686 OMIM:612474 OMIM:253010 OMIM:619503 ORPHA:364028 OMIM:619720 OMIM:617011 ORPHA:457359 OMIM:620083 OMIM:300986 ORPHA:352665 ORPHA:453504 ORPHA:96191 ORPHA:541423 OMIM:617093 OMIM:218330 OMIM:614099 OMIM:619472 ORPHA:363958 ORPHA:363965 OMIM:170390 ORPHA:37553 OMIM:300867 OMIM:603546 ORPHA:93360 OMIM:600373 ORPHA:2788 OMIM:619451 OMIM:613177 OMIM:614202 ORPHA:309282 OMIM:615280 OMIM:157800 OMIM:619087 OMIM:619692 ORPHA:1596 ORPHA:93932 OMIM:309520 OMIM:615673 OMIM:617121 ORPHA:251347 ORPHA:502423 OMIM:610442 OMIM:301039 ORPHA:466791 OMIM:300967 OMIM:102500 OMIM:602875 OMIM:619543 OMIM:117550 OMIM:224690 OMIM:610125 OMIM:610915 OMIM:120330 ORPHA:439822 OMIM:614867 ORPHA:589905 ORPHA:488635 OMIM:617599 OMIM:618143 OMIM:602501 OMIM:269880 OMIM:225400 ORPHA:1900 ORPHA:79318 ORPHA:468678 OMIM:616364 OMIM:619234 OMIM:305600 ORPHA:391408 ORPHA:508488 ORPHA:508498 OMIM:617258 OMIM:212720 OMIM:617751 ORPHA:500159 ORPHA:477817 OMIM:162300 OMIM:613075 OMIM:607095 OMIM:250250 OMIM:250460 OMIM:268310 OMIM:617773 ORPHA:597 ORPHA:98905 OMIM:255320 ORPHA:251028 OMIM:607812 OMIM:613982 OMIM:613848 OMIM:607721 ORPHA:94065 OMIM:613406 OMIM:182212 OMIM:208050 OMIM:612350 OMIM:617301 ORPHA:284984 OMIM:613795 OMIM:619293 OMIM:614608 OMIM:613671 OMIM:114290 OMIM:619475 OMIM:136140 ORPHA:168572 OMIM:617635 ORPHA:502434 OMIM:611087 ORPHA:500533 OMIM:618218 ORPHA:522077 ORPHA:487825 OMIM:606053 OMIM:614815 ORPHA:488642 OMIM:617952 OMIM:616145 OMIM:614816 OMIM:609192 OMIM:610168 OMIM:300957 OMIM:614727 ORPHA:93357 OMIM:619428 ORPHA:486815 OMIM:616033 ORPHA:300570 OMIM:243800 OMIM:604173 OMIM:300968 ORPHA:480880 OMIM:613610 OMIM:615777 ORPHA:370930 OMIM:617665 OMIM:229200

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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