Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Arthropathy (HP:0003040)

Parent Node:
Polyarticular arthropathy (HP:0005195)

..Starting node
..Polyarticular arthritis (HP:0005764)

Term ID:

5764

Name:

Polyarticular arthritis

Synonym:

Definition:

Comments:

Reference:

HP:0005764

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

Genes (17) :CD244 CIITA DMP1 ENPP1 IL10 IL36RN MEFV NFKBIL1 NLRP1 NLRP3 NOD2 PIK3CD PTPN22 SLC22A4 STAT3 TNFAIP3 TNFRSF1A

Diseases (11) :OMIM:180300 ORPHA:289176 OMIM:614204 OMIM:134610 OMIM:617388 OMIM:191900 ORPHA:90340 OMIM:619281 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.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen