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:
Vascular skin abnormality (HP:0011276)

Parent Node:
Urticaria (HP:0001025)

..Starting node
..Physical urticaria (HP:0410134)

Term ID:

410134

Name:

Physical urticaria

Synonym:

Definition:

Urticaria caused by physical agents, such as heat, cold, light, friction.

Comments:

Reference:

HP:0410134

Genes and Diseases:

Child Nodes:

........

Cold urticaria (HP:0410135)

........

Aquagenic urticaria (HP:0410136)

........

Solar urticaria (HP:0410137)

........

Vibratory urticaria (HP:0410138)

Sister Nodes:

Chronic idiopathic urticaria (HP:0410133)

Darier's sign (HP:0025081)

Dermatographic urticaria (HP:0011971)

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:0410134	HP:0410134	Physical urticaria	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0410134	HP:0410134	Physical urticaria	0	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0410134	HP:0410134	Physical urticaria	0	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis		46
HP:0410134	HP:0410134	Physical urticaria	0	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis		4
HP:0410134	HP:0410134	Physical urticaria	0	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma		327
HP:0410134	HP:0410134	Physical urticaria	0	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0410134	HP:0410134	Physical urticaria	0	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0410134	HP:0410134	Physical urticaria	0	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0410134	HP:0410134	Physical urticaria	0	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1		64
HP:0410134	HP:0410134	Physical urticaria	0	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS		26
HP:0410134	HP:0410134	Physical urticaria	0	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0410134	HP:0410134	Physical urticaria	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0410134	HP:0410134	Physical urticaria	0	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0410134	HP:0410134	Physical urticaria	0	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis		71
HP:0410134	HP:0410138	Vibratory urticaria	1	CL E G H
HP:0410134	HP:0410137	Solar urticaria	1	CL E G H
HP:0410134	HP:0410136	Aquagenic urticaria	1	CL E G H
HP:0410134	HP:0410135	Cold urticaria	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0410134	HP:0011971	Dermatographic urticaria	1	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0410134	HP:0011971	Dermatographic urticaria	1	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent	46
HP:0410134	HP:0011971	Dermatographic urticaria	1	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent	4
HP:0410134	HP:0011971	Dermatographic urticaria	1	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma		327
HP:0410134	HP:0011971	Dermatographic urticaria	1	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0410134	HP:0410135	Cold urticaria	1	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0410134	HP:0011971	Dermatographic urticaria	1	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0410134	HP:0011971	Dermatographic urticaria	1	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0410134	HP:0011971	Dermatographic urticaria	1	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1	HP:0040281 - Very frequent	64
HP:0410134	HP:0011971	Dermatographic urticaria	1	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS		26
HP:0410134	HP:0011971	Dermatographic urticaria	1	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0410134	HP:0011971	Dermatographic urticaria	1	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0410134	HP:0011971	Dermatographic urticaria	1	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0410134	HP:0011971	Dermatographic urticaria	1	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent	71

Genes (14) :CARMIL2 IL12A IL12RB1 IRF5 KIT MMEL1 PLCG2 POU2AF1 SERPING1 SLC27A4 SPIB SUPT16H TNFSF15 TNPO3

Diseases (7) :OMIM:618131 ORPHA:186 ORPHA:79455 OMIM:614468 ORPHA:100050 OMIM:608649 OMIM:619480

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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