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:
Arthritis (HP:0001369)

Parent Node:
Abnormality of the knee (HP:0002815)

Parent Node:
Osteoarthritis (HP:0002758)

..Starting node
..Knee osteoarthritis (HP:0005086)

Term ID:

5086

Name:

Knee osteoarthritis

Synonym:

Definition:

Comments:

Reference:

HP:0005086

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hip osteoarthritis (HP:0008843)

obsolete Cervical osteoarthritis (HP:0025266)

Osteoarthritis of the elbow (HP:0003940)

Osteoarthritis of the small joints of the hand (HP:0004268)

Premature osteoarthritis (HP:0003088)

Sacroiliac arthritis (HP:0012317)

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:0005086	HP:0005086	Knee osteoarthritis	0	ANKRD55 CL E G H	79722	25681	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0005086	HP:0005086	Knee osteoarthritis	0	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0005086	HP:0005086	Knee osteoarthritis	0	CD247 CL E G H	919	1677	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	8
HP:0005086	HP:0005086	Knee osteoarthritis	0	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	8
HP:0005086	HP:0005086	Knee osteoarthritis	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0005086	HP:0005086	Knee osteoarthritis	0	COL2A1 CL E G H	1280	2200	OMIM:604864	Osteoarthritis with mild chondrodysplasia	.	284
HP:0005086	HP:0005086	Knee osteoarthritis	0	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2	.	110
HP:0005086	HP:0005086	Knee osteoarthritis	0	IL2RA CL E G H	3559	6008	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	65
HP:0005086	HP:0005086	Knee osteoarthritis	0	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	65
HP:0005086	HP:0005086	Knee osteoarthritis	0	IL2RB CL E G H	3560	6009	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0005086	HP:0005086	Knee osteoarthritis	0	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0005086	HP:0005086	Knee osteoarthritis	0	MMP13 CL E G H	4322	7159	ORPHA:93356	Spondyloepimetaphyseal dysplasia, Missouri type	HP:0040282 - Frequent	52
HP:0005086	HP:0005086	Knee osteoarthritis	0	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6
HP:0005086	HP:0005086	Knee osteoarthritis	0	PTPN2 CL E G H	5771	9650	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0005086	HP:0005086	Knee osteoarthritis	0	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0005086	HP:0005086	Knee osteoarthritis	0	PTPN22 CL E G H	26191	9652	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	3
HP:0005086	HP:0005086	Knee osteoarthritis	0	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	3
HP:0005086	HP:0005086	Knee osteoarthritis	0	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6		7
HP:0005086	HP:0005086	Knee osteoarthritis	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent	260
HP:0005086	HP:0005086	Knee osteoarthritis	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0005086	HP:0005086	Knee osteoarthritis	0	STAT4 CL E G H	6775	11365	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	2
HP:0005086	HP:0005086	Knee osteoarthritis	0	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	2
HP:0005086	HP:0005086	Knee osteoarthritis	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040282 - Frequent	46

Genes (15) :ANKRD55 CD247 COL11A1 COL2A1 COL9A2 IL2RA IL2RB MMP13 PRG4 PTPN2 PTPN22 SMAD2 SMAD3 STAT4 TRAPPC2

Diseases (11) :ORPHA:85410 ORPHA:85408 OMIM:154780 OMIM:604864 OMIM:600204 ORPHA:93356 ORPHA:2848 OMIM:619656 ORPHA:284984 OMIM:613795 ORPHA:93284

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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