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 joint mobility (HP:0011729)

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

Parent Node:
Joint hypermobility (HP:0001382)

..Starting node
..Knee joint hypermobility (HP:0045086)

Term ID:

45086

Name:

Knee joint hypermobility

Synonym:

Knee joint over-flexibility

Definition:

The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees).

Comments:

Reference:

HP:0045086

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)

Joint hyperflexibility (HP:0005692)

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:0045086	HP:0045086	Knee joint hypermobility	0	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1	HP:0040283 - Occasional	89
HP:0045086	HP:0045086	Knee joint hypermobility	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040282 - Frequent	89
HP:0045086	HP:0045086	Knee joint hypermobility	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040282 - Frequent	145
HP:0045086	HP:0045086	Knee joint hypermobility	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0045086	HP:0045086	Knee joint hypermobility	0	MEFV CL E G H	4210	6998	ORPHA:329967	Intermittent hydrarthrosis	HP:0040283 - Occasional	281
HP:0045086	HP:0045086	Knee joint hypermobility	0	TNFRSF1A CL E G H	7132	11916	ORPHA:329967	Intermittent hydrarthrosis	HP:0040283 - Occasional	131

Genes (5) :COMP FGFR3 LMX1B MEFV TNFRSF1A

Diseases (5) :ORPHA:93308 ORPHA:750 ORPHA:15 ORPHA:2614 ORPHA:329967

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