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:
Joint dislocation (HP:0001373)

..Starting node
..Large joint dislocations (HP:0005008)

Term ID:

5008

Name:

Large joint dislocations

Synonym:

Large joint dislocations

Definition:

Comments:

Reference:

HP:0005008

Genes and Diseases:

Child Nodes:

Sister Nodes:

Lower extremity joint dislocation (HP:0030311)

Multiple joint dislocation (HP:0012095)

Phalangeal dislocation (HP:0006243)

Recurrent joint dislocation (HP:0031869)

Upper extremity joint dislocation (HP:0030310)

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:0005008	HP:0005008	Large joint dislocations	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	38
HP:0005008	HP:0005008	Large joint dislocations	0	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome	HP:0040281 - Very frequent	233
HP:0005008	HP:0005008	Large joint dislocations	0	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	.	14

Genes (3) :B3GALT6 FLNB KIF22

Diseases (3) :ORPHA:536467 ORPHA:503 OMIM:603546

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