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 nasopharynx morphology (HP:0001739)

Grandparent Node:
Recurrent respiratory infections (HP:0002205)

Parent Node:
Pharyngitis (HP:0025439)

Parent Node:
Recurrent upper respiratory tract infections (HP:0002788)

..Starting node
..Recurrent pharyngitis (HP:0100776)

Term ID:

100776

Name:

Recurrent pharyngitis

Synonym:

Pharyngitis, recurrent; Recurrent sore throat

Definition:

An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis.

Comments:

Reference:

HP:0100776

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chronic bronchitis (HP:0004469)

Recurrent bronchitis (HP:0002837)

Recurrent sinusitis (HP:0011108)

Recurrent upper and lower respiratory tract infections (HP:0200117)

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:0100776	HP:0100776	Recurrent pharyngitis	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent	68
HP:0100776	HP:0100776	Recurrent pharyngitis	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	4
HP:0100776	HP:0100776	Recurrent pharyngitis	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	2
HP:0100776	HP:0100776	Recurrent pharyngitis	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0100776	HP:0100776	Recurrent pharyngitis	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0100776	HP:0100776	Recurrent pharyngitis	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0100776	HP:0100776	Recurrent pharyngitis	0	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1	.	37
HP:0100776	HP:0100776	Recurrent pharyngitis	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional	68
HP:0100776	HP:0100776	Recurrent pharyngitis	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040283 - Occasional	131
HP:0100776	HP:0100776	Recurrent pharyngitis	0	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1	.	81

Genes (10) :ALG12 HLA-B HLA-DRB1 NFKB2 P4HA2 PTPN22 SH2D1A SLC29A3 TNFRSF1A XIAP

Diseases (6) :ORPHA:79324 ORPHA:397 ORPHA:293978 OMIM:308240 ORPHA:168569 ORPHA:32960

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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