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:
Abnormality of the knee (HP:0002815)

Parent Node:
Hyperextensibility of the knee (HP:0010500)

..Starting node
..Genu recurvatum (HP:0002816)

Term ID:

2816

Name:

Genu recurvatum

Synonym:

Back knee; Genu recurvata; Knee hyperextension

Definition:

An abnormally increased extension of the knee joint, so that the knee can bend backwards.

Comments:

Reference:

HP:0002816

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

Genes (34) :ALDH18A1 ANO5 AP4B1 AP4E1 AP4M1 AP4S1 B4GALT7 CANT1 CDT1 CFL2 CHST3 COL1A2 COMP CSGALNACT1 CTDP1 ELN FBLN5 FBN1 FGD1 GRIA3 HRAS KRAS MAN2C1 MCOLN1 NRAS ORC1 PRR12 PTEN SH3PXD2B SKI SLC6A9 TRIP11 WASF1 XYLT1

Diseases (27) :ORPHA:90348 ORPHA:206549 ORPHA:280763 OMIM:614066 OMIM:130070 ORPHA:1425 OMIM:613804 OMIM:610687 OMIM:143095 ORPHA:230851 OMIM:225320 OMIM:177170 OMIM:604168 OMIM:154700 ORPHA:915 ORPHA:364028 ORPHA:2612 OMIM:619775 ORPHA:578 OMIM:224690 OMIM:619539 ORPHA:2969 ORPHA:137834 OMIM:182212 OMIM:617301 OMIM:184260 OMIM:618707

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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