Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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:
Arthritis (HP:0001369)

Parent Node:
Rheumatoid arthritis (HP:0001370)

..Starting node
..Juvenile rheumatoid arthritis (HP:0005681)

Term ID:

5681

Name:

Juvenile rheumatoid arthritis

Synonym:

Juvenile idiopathic arthritis; Juvenile RA; Rheumatoid arthritis, juvenile

Definition:

Comments:

Reference:

HP:0005681

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0005681	HP:0005681	Juvenile rheumatoid arthritis	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional	16
HP:0005681	HP:0005681	Juvenile rheumatoid arthritis	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.	16
HP:0005681	HP:0005681	Juvenile rheumatoid arthritis	0	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency	HP:0040283 - Occasional	94
HP:0005681	HP:0005681	Juvenile rheumatoid arthritis	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040281 - Very frequent	2
HP:0005681	HP:0005681	Juvenile rheumatoid arthritis	0	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040281 - Very frequent	2
HP:0005681	HP:0005681	Juvenile rheumatoid arthritis	0	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040281 - Very frequent	1
HP:0005681	HP:0005681	Juvenile rheumatoid arthritis	0	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040281 - Very frequent	1

Genes (6) :ACP5 DCLRE1C HLA-DRB1 IL6 LACC1 MIF

Diseases (4) :ORPHA:1855 OMIM:607944 ORPHA:275 ORPHA:85414

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