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:
Joint dislocation (HP:0001373)

Parent Node:
Abnormality of the knee (HP:0002815)

Parent Node:
Lower extremity joint dislocation (HP:0030311)

..Starting node
..Knee dislocation (HP:0004976)

Term ID:

4976

Name:

Knee dislocation

Synonym:

Dislocations of the knees; Knee dislocations

Definition:

Comments:

Reference:

HP:0004976

Genes and Diseases:

Child Nodes:

........

Congenital knee dislocation (HP:0005191)

Sister Nodes:

Dislocation of the femoral head (HP:0008826)

Dislocation of toes (HP:0008141)

Hip dislocation (HP:0002827)

Patellar dislocation (HP:0002999)

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:0004976	HP:0004976	Knee dislocation	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040282 - Frequent
HP:0004976	HP:0004976	Knee dislocation	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0004976	HP:0004976	Knee dislocation	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		5
HP:0004976	HP:0004976	Knee dislocation	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		165
HP:0004976	HP:0004976	Knee dislocation	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0004976	HP:0004976	Knee dislocation	0	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	.	3
HP:0004976	HP:0004976	Knee dislocation	0	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III	HP:0040282 - Frequent	233
HP:0004976	HP:0004976	Knee dislocation	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0004976	HP:0004976	Knee dislocation	0	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III	.	233
HP:0004976	HP:0004976	Knee dislocation	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.	233
HP:0004976	HP:0004976	Knee dislocation	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0004976	HP:0004976	Knee dislocation	0	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement	HP:0040283 - Occasional	1200
HP:0004976	HP:0004976	Knee dislocation	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	.
HP:0004976	HP:0004976	Knee dislocation	0	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures	.	2
HP:0004976	HP:0004976	Knee dislocation	0	SLC35A3 CL E G H	23443	11023	ORPHA:370943	Autism spectrum disorder-epilepsy-arthrogryposis syndrome	HP:0040282 - Frequent	2
HP:0004976	HP:0004976	Knee dislocation	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita		1129
HP:0004976	HP:0004976	Knee dislocation	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0004976	HP:0004976	Knee dislocation	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2		14
HP:0004976	HP:0005191	Congenital knee dislocation	1	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita		1129

Genes (12) :AEBP1 B3GAT3 CHST3 EXOC6B FLNB HNRNPH1 RYR1 SLC10A7 SLC35A3 SYNE1 TTC26 XYLT1

Diseases (17) :ORPHA:536532 OMIM:618000 OMIM:245600 OMIM:143095 OMIM:618395 ORPHA:56305 OMIM:108720 OMIM:108721 OMIM:150250 OMIM:620083 ORPHA:178145 OMIM:618363 OMIM:615553 ORPHA:370943 ORPHA:319332 OMIM:619534 OMIM:615777

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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