Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12		304
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		49
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive		49
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		48
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		41
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		18
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome		85
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4		50
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome		243
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form		243
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1		89
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia		89
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy		17
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome		62
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia		145
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations		30
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome		113
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome		196
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV		78
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	MEFV CL E G H	4210	6998	ORPHA:329967	Intermittent hydrarthrosis		281
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome		102
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome		948
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome		134
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine		4
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	TNFRSF1A CL E G H	7132	11916	ORPHA:329967	Intermittent hydrarthrosis		131
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia		133
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0010500	HP:0010500	Hyperextensibility of the knee	0	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome		14
HP:0010500	HP:0002816	Genu recurvatum	1	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0010500	HP:0002816	Genu recurvatum	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040282 - Frequent	304
HP:0010500	HP:0002816	Genu recurvatum	1	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040284 - Very rare	49
HP:0010500	HP:0002816	Genu recurvatum	1	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	HP:0040283 - Occasional	49
HP:0010500	HP:0002816	Genu recurvatum	1	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040284 - Very rare	48
HP:0010500	HP:0002816	Genu recurvatum	1	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040284 - Very rare	41
HP:0010500	HP:0002816	Genu recurvatum	1	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040284 - Very rare	18
HP:0010500	HP:0002816	Genu recurvatum	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1	HP:0040283 - Occasional	29
HP:0010500	HP:0002816	Genu recurvatum	1	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent	85
HP:0010500	HP:0002816	Genu recurvatum	1	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4	.	50
HP:0010500	HP:0002816	Genu recurvatum	1	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0010500	HP:0002816	Genu recurvatum	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0010500	HP:0002816	Genu recurvatum	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040282 - Frequent	243
HP:0010500	HP:0002816	Genu recurvatum	1	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form	.	243
HP:0010500	HP:0045086	Knee joint hypermobility	1	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1	HP:0040283 - Occasional	89
HP:0010500	HP:0002816	Genu recurvatum	1	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0010500	HP:0045086	Knee joint hypermobility	1	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040282 - Frequent	89
HP:0010500	HP:0002816	Genu recurvatum	1	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent
HP:0010500	HP:0002816	Genu recurvatum	1	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	.	17
HP:0010500	HP:0002816	Genu recurvatum	1	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0010500	HP:0002816	Genu recurvatum	1	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0010500	HP:0002816	Genu recurvatum	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	.	1361
HP:0010500	HP:0002816	Genu recurvatum	1	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040283 - Occasional	62
HP:0010500	HP:0045086	Knee joint hypermobility	1	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040282 - Frequent	145
HP:0010500	HP:0002816	Genu recurvatum	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0010500	HP:0002816	Genu recurvatum	1	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	113
HP:0010500	HP:0002816	Genu recurvatum	1	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	196
HP:0010500	HP:0045086	Knee joint hypermobility	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0010500	HP:0002816	Genu recurvatum	1	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0010500	HP:0002816	Genu recurvatum	1	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV	HP:0040283 - Occasional	78
HP:0010500	HP:0045086	Knee joint hypermobility	1	MEFV CL E G H	4210	6998	ORPHA:329967	Intermittent hydrarthrosis	HP:0040283 - Occasional	281
HP:0010500	HP:0002816	Genu recurvatum	1	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	102
HP:0010500	HP:0002816	Genu recurvatum	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0010500	HP:0002816	Genu recurvatum	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0010500	HP:0002816	Genu recurvatum	1	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040281 - Very frequent	948
HP:0010500	HP:0002816	Genu recurvatum	1	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040282 - Frequent	134
HP:0010500	HP:0002816	Genu recurvatum	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome	.	150
HP:0010500	HP:0002816	Genu recurvatum	1	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine		4
HP:0010500	HP:0045086	Knee joint hypermobility	1	TNFRSF1A CL E G H	7132	11916	ORPHA:329967	Intermittent hydrarthrosis	HP:0040283 - Occasional	131
HP:0010500	HP:0002816	Genu recurvatum	1	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia	.	133
HP:0010500	HP:0002816	Genu recurvatum	1	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0010500	HP:0002816	Genu recurvatum	1	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent	14