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:
Abnormality of connective tissue (HP:0003549)

Parent Node:
Abnormal Sharpey fiber morphology (HP:0100685)

..Starting node
..Enthesitis (HP:0100686)

Term ID:

100686

Name:

Enthesitis

Synonym:

Inflammation of sharpey fibers; Inflammation of sharpey fibres

Definition:

Comments:

Reference:

HP:0100686

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chondrocalcinosis (HP:0000934)

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:0100686	HP:0100686	Enthesitis	0	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0100686	HP:0100686	Enthesitis	0	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	8
HP:0100686	HP:0100686	Enthesitis	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040282 - Frequent	48
HP:0100686	HP:0100686	Enthesitis	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040282 - Frequent	151
HP:0100686	HP:0100686	Enthesitis	0	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis	HP:0040281 - Very frequent	4
HP:0100686	HP:0100686	Enthesitis	0	HLA-B CL E G H	3106	4932	OMIM:106300	Spondyloarthropathy, susceptibility to, 1	.	4
HP:0100686	HP:0100686	Enthesitis	0	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	65
HP:0100686	HP:0100686	Enthesitis	0	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0100686	HP:0100686	Enthesitis	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040283 - Occasional	217
HP:0100686	HP:0100686	Enthesitis	0	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0100686	HP:0100686	Enthesitis	0	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	3
HP:0100686	HP:0100686	Enthesitis	0	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	2

Genes (11) :ANKRD55 CD247 DMP1 ENPP1 HLA-B IL2RA IL2RB PHEX PTPN2 PTPN22 STAT4

Diseases (5) :ORPHA:85408 ORPHA:289176 ORPHA:29207 OMIM:106300 ORPHA:89936

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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