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 the nose (HP:0000366)

Parent Node:
Allergy (HP:0012393)

Parent Node:
Rhinitis (HP:0012384)

..Starting node
..Allergic rhinitis (HP:0003193)

Term ID:

3193

Name:

Allergic rhinitis

Synonym:

Hay fever; Hayfever; Nasal allergies

Definition:

It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea.

Comments:

Reference:

HP:0003193

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chronic rhinitis (HP:0002257)

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:0003193	HP:0003193	Allergic rhinitis	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0003193	HP:0003193	Allergic rhinitis	0	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp		7
HP:0003193	HP:0003193	Allergic rhinitis	0	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis	.	13
HP:0003193	HP:0003193	Allergic rhinitis	0	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0003193	HP:0003193	Allergic rhinitis	0	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0003193	HP:0003193	Allergic rhinitis	0	IL4R CL E G H	3566	6015	OMIM:147050	Ige responsiveness, atopic	.	3
HP:0003193	HP:0003193	Allergic rhinitis	0	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp		5
HP:0003193	HP:0003193	Allergic rhinitis	0	MS4A2 CL E G H	2206	7316	OMIM:147050	Ige responsiveness, atopic	.	1
HP:0003193	HP:0003193	Allergic rhinitis	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0003193	HP:0003193	Allergic rhinitis	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0003193	HP:0003193	Allergic rhinitis	0	PLA2G7 CL E G H	7941	9040	OMIM:147050	Ige responsiveness, atopic	.	5
HP:0003193	HP:0003193	Allergic rhinitis	0	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0003193	HP:0003193	Allergic rhinitis	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type	.
HP:0003193	HP:0003193	Allergic rhinitis	0	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS		26
HP:0003193	HP:0003193	Allergic rhinitis	0	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.	100

Genes (14) :CARMIL2 CDSN COX4I2 IGHG2 IGKC IL4R KRT74 MS4A2 PGM3 PLA2G7 PLCG2 SIK3 SLC27A4 SPINK5

Diseases (11) :OMIM:618131 ORPHA:90368 OMIM:612714 ORPHA:183675 OMIM:147050 OMIM:615816 ORPHA:443811 OMIM:614468 OMIM:618162 OMIM:608649 OMIM:256500

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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