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:
Arthritis (HP:0001369)

..Starting node
..Rheumatoid arthritis (HP:0001370)

Term ID:

1370

Name:

Rheumatoid arthritis

Synonym:

RA; Rheumatoid arthritis

Definition:

Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures.

Comments:

Reference:

HP:0001370

Genes and Diseases:

Child Nodes:

........

Juvenile rheumatoid arthritis (HP:0005681)

Sister Nodes:

Arthralgia/arthritis (HP:0005059)

Gout (HP:0001997)

Oligoarthritis (HP:0040313)

Osteoarthritis (HP:0002758)

Septic arthritis (HP:0003095)

Sterile arthritis (HP:0040310)

Symmetric polyarthritis (HP:0040311)

Temporomandibular arthritis (HP:0040312)

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:0001370	HP:0001370	Rheumatoid arthritis	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia		16
HP:0001370	HP:0001370	Rheumatoid arthritis	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.	16
HP:0001370	HP:0001370	Rheumatoid arthritis	0	ANKRD55 CL E G H	79722	25681	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0001370	HP:0001370	Rheumatoid arthritis	0	CD244 CL E G H	51744	18171	OMIM:180300	RHEUMATOID ARTHRITIS; RA		2
HP:0001370	HP:0001370	Rheumatoid arthritis	0	CD247 CL E G H	919	1677	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional	8
HP:0001370	HP:0001370	Rheumatoid arthritis	0	CIITA CL E G H	4261	7067	OMIM:180300	RHEUMATOID ARTHRITIS; RA		118
HP:0001370	HP:0001370	Rheumatoid arthritis	0	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0001370	HP:0001370	Rheumatoid arthritis	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional	86
HP:0001370	HP:0001370	Rheumatoid arthritis	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis		2
HP:0001370	HP:0001370	Rheumatoid arthritis	0	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0001370	HP:0001370	Rheumatoid arthritis	0	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0001370	HP:0001370	Rheumatoid arthritis	0	IL10 CL E G H	3586	5962	OMIM:180300	RHEUMATOID ARTHRITIS; RA		2
HP:0001370	HP:0001370	Rheumatoid arthritis	0	IL2RA CL E G H	3559	6008	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional	65
HP:0001370	HP:0001370	Rheumatoid arthritis	0	IL2RB CL E G H	3560	6009	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0001370	HP:0001370	Rheumatoid arthritis	0	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis		2
HP:0001370	HP:0001370	Rheumatoid arthritis	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional	1
HP:0001370	HP:0001370	Rheumatoid arthritis	0	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis		1
HP:0001370	HP:0001370	Rheumatoid arthritis	0	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis		1
HP:0001370	HP:0001370	Rheumatoid arthritis	0	NFKBIL1 CL E G H	4795	7800	OMIM:180300	RHEUMATOID ARTHRITIS; RA		1
HP:0001370	HP:0001370	Rheumatoid arthritis	0	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional	27
HP:0001370	HP:0001370	Rheumatoid arthritis	0	PTPN2 CL E G H	5771	9650	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0001370	HP:0001370	Rheumatoid arthritis	0	PTPN22 CL E G H	26191	9652	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional	3
HP:0001370	HP:0001370	Rheumatoid arthritis	0	PTPN22 CL E G H	26191	9652	OMIM:180300	RHEUMATOID ARTHRITIS; RA		3
HP:0001370	HP:0001370	Rheumatoid arthritis	0	SLC22A4 CL E G H	6583	10968	OMIM:180300	RHEUMATOID ARTHRITIS; RA		3
HP:0001370	HP:0001370	Rheumatoid arthritis	0	STAT4 CL E G H	6775	11365	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional	2
HP:0001370	HP:0005681	Juvenile rheumatoid arthritis	1	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional	16
HP:0001370	HP:0005681	Juvenile rheumatoid arthritis	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.	16
HP:0001370	HP:0005681	Juvenile rheumatoid arthritis	1	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency	HP:0040283 - Occasional	94
HP:0001370	HP:0005681	Juvenile rheumatoid arthritis	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040281 - Very frequent	2
HP:0001370	HP:0005681	Juvenile rheumatoid arthritis	1	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040281 - Very frequent	2
HP:0001370	HP:0005681	Juvenile rheumatoid arthritis	1	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040281 - Very frequent	1
HP:0001370	HP:0005681	Juvenile rheumatoid arthritis	1	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040281 - Very frequent	1

Genes (23) :ACP5 ANKRD55 CD244 CD247 CIITA DCLRE1C GCH1 HLA-DRB1 IGHG2 IGKC IL10 IL2RA IL2RB IL6 IMPDH2 LACC1 MIF NFKBIL1 NR4A2 PTPN2 PTPN22 SLC22A4 STAT4

Diseases (8) :ORPHA:1855 OMIM:607944 ORPHA:85410 OMIM:180300 ORPHA:275 ORPHA:98808 ORPHA:85414 ORPHA:183675

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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