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:
Arthritis (HP:0001369)

..Starting node
..Oligoarthritis (HP:0040313)

Term ID:

40313

Name:

Oligoarthritis

Synonym:

Definition:

A type of arthritis that affects up to four joints in the first six months of disease.

Comments:

Reference:

HP:0040313

Genes and Diseases:

Child Nodes:

Sister Nodes:

Arthralgia/arthritis (HP:0005059)

Gout (HP:0001997)

Osteoarthritis (HP:0002758)

Rheumatoid arthritis (HP:0001370)

Septic arthritis (HP:0003095)

Sterile arthritis (HP:0040310)

Symmetric polyarthritis (HP:0040311)

Temporomandibular arthritis (HP:0040312)

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:0040313	HP:0040313	Oligoarthritis	0	ANKRD55 CL E G H	79722	25681	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040281 - Very frequent
HP:0040313	HP:0040313	Oligoarthritis	0	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0040313	HP:0040313	Oligoarthritis	0	CD247 CL E G H	919	1677	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040281 - Very frequent	8
HP:0040313	HP:0040313	Oligoarthritis	0	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional	8
HP:0040313	HP:0040313	Oligoarthritis	0	HLA-B CL E G H	3106	4932	OMIM:106300	Spondyloarthropathy, susceptibility to, 1	.	4
HP:0040313	HP:0040313	Oligoarthritis	0	IL2RA CL E G H	3559	6008	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040281 - Very frequent	65
HP:0040313	HP:0040313	Oligoarthritis	0	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional	65
HP:0040313	HP:0040313	Oligoarthritis	0	IL2RB CL E G H	3560	6009	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040281 - Very frequent
HP:0040313	HP:0040313	Oligoarthritis	0	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0040313	HP:0040313	Oligoarthritis	0	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0040313	HP:0040313	Oligoarthritis	0	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040283 - Occasional	281
HP:0040313	HP:0040313	Oligoarthritis	0	PTPN2 CL E G H	5771	9650	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040281 - Very frequent
HP:0040313	HP:0040313	Oligoarthritis	0	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0040313	HP:0040313	Oligoarthritis	0	PTPN22 CL E G H	26191	9652	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040281 - Very frequent	3
HP:0040313	HP:0040313	Oligoarthritis	0	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional	3
HP:0040313	HP:0040313	Oligoarthritis	0	STAT4 CL E G H	6775	11365	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040281 - Very frequent	2
HP:0040313	HP:0040313	Oligoarthritis	0	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional	2
HP:0040313	HP:0040313	Oligoarthritis	0	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant		131
HP:0040313	HP:0040313	Oligoarthritis	0	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85

Genes (12) :ANKRD55 CD247 HLA-B IL2RA IL2RB IL36RN MEFV PTPN2 PTPN22 STAT4 TNFRSF1A TOM1

Diseases (7) :ORPHA:85410 ORPHA:85408 OMIM:106300 OMIM:614204 ORPHA:3243 OMIM:142680 OMIM:619510

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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