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:
Joint dislocation (HP:0001373)

Parent Node:
Patellar dislocation (HP:0002999)

Parent Node:
Recurrent joint dislocation (HP:0031869)

..Starting node
..Recurrent patellar dislocation (HP:0005001)

Term ID:

5001

Name:

Recurrent patellar dislocation

Synonym:

Recurrent dislocation of patellas

Definition:

Patellar dislocation occurring repeated times.

Comments:

Reference:

HP:0005001

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:0005001	HP:0005001	Recurrent patellar dislocation	0	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome		5
HP:0005001	HP:0005001	Recurrent patellar dislocation	0	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2		2
HP:0005001	HP:0005001	Recurrent patellar dislocation	0	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement	HP:0040283 - Occasional	1200

Genes (3) :MAB21L2 PRKACB RYR1

Diseases (3) :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.