Human Phenotype Ontology

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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:
Abnormal joint morphology (HP:0001367)

Parent Node:
Arthropathy (HP:0003040)

..Starting node
..Polyarticular arthropathy (HP:0005195)

Term ID:

5195

Name:

Polyarticular arthropathy

Synonym:

Definition:

Comments:

Reference:

HP:0005195

Genes and Diseases:

Child Nodes:

........

Polyarticular arthritis (HP:0005764)

Sister Nodes:

Neuropathic arthropathy (HP:0002821)

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:0005195	HP:0005195	Polyarticular arthropathy	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040281 - Very frequent
HP:0005195	HP:0005195	Polyarticular arthropathy	0	CD244 CL E G H	51744	18171	OMIM:180300	RHEUMATOID ARTHRITIS; RA		2
HP:0005195	HP:0005195	Polyarticular arthropathy	0	CIITA CL E G H	4261	7067	OMIM:180300	RHEUMATOID ARTHRITIS; RA		118
HP:0005195	HP:0005195	Polyarticular arthropathy	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets		48
HP:0005195	HP:0005195	Polyarticular arthropathy	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets		151
HP:0005195	HP:0005195	Polyarticular arthropathy	0	IL10 CL E G H	3586	5962	OMIM:180300	RHEUMATOID ARTHRITIS; RA		2
HP:0005195	HP:0005195	Polyarticular arthropathy	0	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0005195	HP:0005195	Polyarticular arthropathy	0	MEFV CL E G H	4210	6998	OMIM:134610	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT		281
HP:0005195	HP:0005195	Polyarticular arthropathy	0	NFKBIL1 CL E G H	4795	7800	OMIM:180300	RHEUMATOID ARTHRITIS; RA		1
HP:0005195	HP:0005195	Polyarticular arthropathy	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0005195	HP:0005195	Polyarticular arthropathy	0	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome		217
HP:0005195	HP:0005195	Polyarticular arthropathy	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome		187
HP:0005195	HP:0005195	Polyarticular arthropathy	0	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0005195	HP:0005195	Polyarticular arthropathy	0	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6
HP:0005195	HP:0005195	Polyarticular arthropathy	0	PTPN22 CL E G H	26191	9652	OMIM:180300	RHEUMATOID ARTHRITIS; RA		3
HP:0005195	HP:0005195	Polyarticular arthropathy	0	SLC22A4 CL E G H	6583	10968	OMIM:180300	RHEUMATOID ARTHRITIS; RA		3
HP:0005195	HP:0005195	Polyarticular arthropathy	0	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0005195	HP:0005195	Polyarticular arthropathy	0	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0005195	HP:0005195	Polyarticular arthropathy	0	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant		131
HP:0005195	HP:0005764	Polyarticular arthritis	1	CD244 CL E G H	51744	18171	OMIM:180300	RHEUMATOID ARTHRITIS; RA		2
HP:0005195	HP:0005764	Polyarticular arthritis	1	CIITA CL E G H	4261	7067	OMIM:180300	RHEUMATOID ARTHRITIS; RA		118
HP:0005195	HP:0005764	Polyarticular arthritis	1	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	48
HP:0005195	HP:0005764	Polyarticular arthritis	1	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	151
HP:0005195	HP:0005764	Polyarticular arthritis	1	IL10 CL E G H	3586	5962	OMIM:180300	RHEUMATOID ARTHRITIS; RA		2
HP:0005195	HP:0005764	Polyarticular arthritis	1	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0005195	HP:0005764	Polyarticular arthritis	1	MEFV CL E G H	4210	6998	OMIM:134610	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT		281
HP:0005195	HP:0005764	Polyarticular arthritis	1	NFKBIL1 CL E G H	4795	7800	OMIM:180300	RHEUMATOID ARTHRITIS; RA		1
HP:0005195	HP:0005764	Polyarticular arthritis	1	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0005195	HP:0005764	Polyarticular arthritis	1	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome		217
HP:0005195	HP:0005764	Polyarticular arthritis	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040281 - Very frequent	187
HP:0005195	HP:0005764	Polyarticular arthritis	1	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0005195	HP:0005764	Polyarticular arthritis	1	PTPN22 CL E G H	26191	9652	OMIM:180300	RHEUMATOID ARTHRITIS; RA		3
HP:0005195	HP:0005764	Polyarticular arthritis	1	SLC22A4 CL E G H	6583	10968	OMIM:180300	RHEUMATOID ARTHRITIS; RA		3
HP:0005195	HP:0005764	Polyarticular arthritis	1	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0005195	HP:0005764	Polyarticular arthritis	1	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0005195	HP:0005764	Polyarticular arthritis	1	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant		131

Genes (19) :CCN6 CD244 CIITA DMP1 ENPP1 IL10 IL36RN MEFV NFKBIL1 NLRP1 NLRP3 NOD2 PIK3CD PRG4 PTPN22 SLC22A4 STAT3 TNFAIP3 TNFRSF1A

Diseases (13) :ORPHA:1159 OMIM:180300 ORPHA:289176 OMIM:614204 OMIM:134610 OMIM:617388 OMIM:191900 ORPHA:90340 OMIM:619281 ORPHA:2848 OMIM:615952 OMIM:616744 OMIM:142680

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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