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
..Recurrent joint dislocation (HP:0031869)

Term ID:

31869

Name:

Recurrent joint dislocation

Synonym:

Recurrent joint dislocations

Definition:

Dislocation of a given joint repeated times.

Comments:

Reference:

HP:0031869

Genes and Diseases:

Child Nodes:

........

Recurrent patellar dislocation (HP:0005001)

........

Recurrent shoulder dislocation (HP:0031610)

Sister Nodes:

Large joint dislocations (HP:0005008)

Lower extremity joint dislocation (HP:0030311)

Multiple joint dislocation (HP:0012095)

Phalangeal dislocation (HP:0006243)

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:0031869	HP:0031869	Recurrent joint dislocation	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	27
HP:0031869	HP:0031869	Recurrent joint dislocation	0	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1		373
HP:0031869	HP:0031869	Recurrent joint dislocation	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome		243
HP:0031869	HP:0031869	Recurrent joint dislocation	0	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0031869	HP:0031869	Recurrent joint dislocation	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	13
HP:0031869	HP:0031869	Recurrent joint dislocation	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0031869	HP:0031869	Recurrent joint dislocation	0	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome		5
HP:0031869	HP:0031869	Recurrent joint dislocation	0	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2		2
HP:0031869	HP:0031869	Recurrent joint dislocation	0	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement		1200
HP:0031869	HP:0031610	Recurrent shoulder dislocation	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional	243
HP:0031869	HP:0005001	Recurrent patellar dislocation	1	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome		5
HP:0031869	HP:0005001	Recurrent patellar dislocation	1	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2		2
HP:0031869	HP:0005001	Recurrent patellar dislocation	1	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement	HP:0040283 - Occasional	1200

Genes (9) :CHST14 COL1A1 COL1A2 COL5A2 DSE IPO8 MAB21L2 PRKACB RYR1

Diseases (8) :ORPHA:2953 OMIM:619115 ORPHA:230851 OMIM:130010 OMIM:619472 OMIM:615877 OMIM:619143 ORPHA:178145

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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