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:
Shoulder dislocation (HP:0003834)

..Starting node
..Shoulder subluxation (HP:0003835)

Term ID:

3835

Name:

Shoulder subluxation

Synonym:

Partial shoulder dislocation

Definition:

A partial dislocation of the shoulder joint.

Comments:

Reference:

HP:0003835

Genes and Diseases:

Child Nodes:

Sister Nodes:

Recurrent shoulder dislocation (HP:0031610)

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:0003835	HP:0003835	Shoulder subluxation	0	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0003835	HP:0003835	Shoulder subluxation	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040283 - Occasional	105
HP:0003835	HP:0003835	Shoulder subluxation	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19

Genes (3) :COL5A1 PLOD1 PUF60

Diseases (3) :OMIM:619329 ORPHA:1900 ORPHA:508498

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