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:
Abnormality of the synovia (HP:0005262)

..Starting node
..Synovial hypertrophy (HP:0005186)

Term ID:

5186

Name:

Synovial hypertrophy

Synonym:

Definition:

Comments:

Reference:

HP:0005186

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)

Synovitis (HP:0100769)

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:0005186	HP:0005186	Synovial hypertrophy	0	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0005186	HP:0005186	Synovial hypertrophy	0	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	8
HP:0005186	HP:0005186	Synovial hypertrophy	0	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	65
HP:0005186	HP:0005186	Synovial hypertrophy	0	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0005186	HP:0005186	Synovial hypertrophy	0	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome	.	6
HP:0005186	HP:0005186	Synovial hypertrophy	0	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0005186	HP:0005186	Synovial hypertrophy	0	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	3
HP:0005186	HP:0005186	Synovial hypertrophy	0	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	2

Genes (8) :ANKRD55 CD247 IL2RA IL2RB PRG4 PTPN2 PTPN22 STAT4

Diseases (2) :ORPHA:85408 OMIM:208250

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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