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 shoulder morphology (HP:0003043)

Grandparent Node:
Upper extremity joint dislocation (HP:0030310)

Parent Node:
Recurrent joint dislocation (HP:0031869)

Parent Node:
Shoulder dislocation (HP:0003834)

..Starting node
..Recurrent shoulder dislocation (HP:0031610)

Term ID:

31610

Name:

Recurrent shoulder dislocation

Synonym:

Multiple shoulder dislocation

Definition:

Shoulder dislocation occurring repeated times.

Comments:

Reference:

HP:0031610

Genes and Diseases:

Child Nodes:

Sister Nodes:

Shoulder subluxation (HP:0003835)

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:0031610	HP:0031610	Recurrent shoulder dislocation	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional	243

Genes (1) :COL1A2

Diseases (1) :ORPHA:230851

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