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
..Multiple joint dislocation (HP:0012095)

Term ID:

12095

Name:

Multiple joint dislocation

Synonym:

Multiple joint dislocations

Definition:

Dislocation of many joints.

Comments:

Reference:

HP:0012095

Genes and Diseases:

Child Nodes:

Sister Nodes:

Large joint dislocations (HP:0005008)

Lower extremity joint dislocation (HP:0030311)

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:0012095	HP:0012095	Multiple joint dislocation	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	38
HP:0012095	HP:0012095	Multiple joint 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:0012095	HP:0012095	Multiple joint 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:0012095	HP:0012095	Multiple joint dislocation	0	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	.	3
HP:0012095	HP:0012095	Multiple joint dislocation	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012095	HP:0012095	Multiple joint dislocation	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040282 - Frequent	14
HP:0012095	HP:0012095	Multiple joint dislocation	0	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS		15

Genes (7) :B3GALT6 B3GAT3 CHST3 EXOC6B GNB2 KIF22 RNU4ATAC

Diseases (6) :ORPHA:536467 OMIM:245600 OMIM:618395 OMIM:619503 ORPHA:93360 OMIM:226960

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