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:
Abnormality of the synovia (HP:0005262)

..Starting node
..Synovitis (HP:0100769)

Term ID:

100769

Name:

Synovitis

Synonym:

Definition:

Comments:

Reference:

HP:0100769

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal hip joint morphology (HP:0001384)

Abnormality of the radioulnar joints (HP:0003059)

Stiff interphalangeal joints (HP:0005198)

Synovial hypertrophy (HP:0005186)

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:0100769	HP:0100769	Synovitis	0	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0100769	HP:0100769	Synovitis	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1	.	276
HP:0100769	HP:0100769	Synovitis	0	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	8
HP:0100769	HP:0100769	Synovitis	0	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A	HP:0040283 - Occasional	303
HP:0100769	HP:0100769	Synovitis	0	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A	HP:0040283 - Occasional	303
HP:0100769	HP:0100769	Synovitis	0	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX		28
HP:0100769	HP:0100769	Synovitis	0	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	65
HP:0100769	HP:0100769	Synovitis	0	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0100769	HP:0100769	Synovitis	0	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040282 - Frequent	186
HP:0100769	HP:0100769	Synovitis	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1	.	134
HP:0100769	HP:0100769	Synovitis	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040281 - Very frequent	187
HP:0100769	HP:0100769	Synovitis	0	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome		187
HP:0100769	HP:0100769	Synovitis	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0100769	HP:0100769	Synovitis	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1	.	291
HP:0100769	HP:0100769	Synovitis	0	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0100769	HP:0100769	Synovitis	0	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	3
HP:0100769	HP:0100769	Synovitis	0	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	2

Genes (15) :ANKRD55 BRAF CD247 F8 HYAL1 IL2RA IL2RB LPIN2 MAP2K1 NOD2 POLR3A PTPN11 PTPN2 PTPN22 STAT4

Diseases (9) :ORPHA:85408 OMIM:163950 ORPHA:169805 ORPHA:169802 OMIM:601492 ORPHA:77297 ORPHA:90340 OMIM:186580 ORPHA:3455

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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