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:
Abnormality of the head (HP:0000234)

Parent Node:
Abnormality of the pharynx (HP:0000600)

..Starting node
..Pharyngitis (HP:0025439)

Term ID:

25439

Name:

Pharyngitis

Synonym:

Definition:

Inflammation (due to infection or irritation) of the pharynx.

Comments:

Reference:

HP:0025439

Genes and Diseases:

Child Nodes:

........

Recurrent pharyngitis (HP:0100776)

Sister Nodes:

Abnormal hypopharynx morphology (HP:3000053)

Abnormal morphology of musculature of pharynx (HP:0430015)

Abnormal nasopharynx morphology (HP:0001739)

Hypoplasia of the pharynx (HP:0009555)

Oral-pharyngeal dysphagia (HP:0200136)

Pharyngeal edema (HP:0011855)

Posterior pharyngeal cleft (HP:0006783)

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:0025439	HP:0025439	Pharyngitis	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0025439	HP:0025439	Pharyngitis	0	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	38
HP:0025439	HP:0025439	Pharyngitis	0	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040283 - Occasional	9
HP:0025439	HP:0025439	Pharyngitis	0	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	79
HP:0025439	HP:0025439	Pharyngitis	0	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040282 - Frequent	79
HP:0025439	HP:0025439	Pharyngitis	0	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	56
HP:0025439	HP:0025439	Pharyngitis	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis		4
HP:0025439	HP:0025439	Pharyngitis	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease	HP:0040282 - Frequent	1
HP:0025439	HP:0025439	Pharyngitis	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis		2
HP:0025439	HP:0025439	Pharyngitis	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0025439	HP:0025439	Pharyngitis	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis		3
HP:0025439	HP:0025439	Pharyngitis	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis		3
HP:0025439	HP:0025439	Pharyngitis	0	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0025439	HP:0025439	Pharyngitis	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome		68
HP:0025439	HP:0025439	Pharyngitis	0	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent
HP:0025439	HP:0025439	Pharyngitis	0	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	82
HP:0025439	HP:0025439	Pharyngitis	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome		131
HP:0025439	HP:0025439	Pharyngitis	0	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0025439	HP:0100776	Recurrent pharyngitis	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent	68
HP:0025439	HP:0100776	Recurrent pharyngitis	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	4
HP:0025439	HP:0100776	Recurrent pharyngitis	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	2
HP:0025439	HP:0100776	Recurrent pharyngitis	1	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0025439	HP:0100776	Recurrent pharyngitis	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0025439	HP:0100776	Recurrent pharyngitis	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0025439	HP:0100776	Recurrent pharyngitis	1	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1	.	37
HP:0025439	HP:0100776	Recurrent pharyngitis	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional	68
HP:0025439	HP:0100776	Recurrent pharyngitis	1	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040283 - Occasional	131
HP:0025439	HP:0100776	Recurrent pharyngitis	1	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1	.	81

Genes (17) :ALG12 CLPB CXCR4 ELANE GFI1 HLA-B HLA-DPB1 HLA-DRB1 NFKB2 P4HA2 PTPN22 SH2D1A SLC29A3 SRP54 TCIRG1 TNFRSF1A XIAP

Diseases (10) :ORPHA:79324 ORPHA:486 ORPHA:51636 ORPHA:2686 ORPHA:397 ORPHA:133 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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