Human Phenotype Ontology

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:0001025	HP:0001025	Urticaria	0	ADGRE2 CL E G H	30817	3337	OMIM:125630	Dermodistortive urticaria	.	2
HP:0001025	HP:0001025	Urticaria	0	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome	HP:0040283 - Occasional	87
HP:0001025	HP:0001025	Urticaria	0	ALPK1 CL E G H	80216	20917	OMIM:614979	Splenomegaly, cytopenia, and vision loss	.
HP:0001025	HP:0001025	Urticaria	0	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent	49
HP:0001025	HP:0001025	Urticaria	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	145
HP:0001025	HP:0001025	Urticaria	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	145
HP:0001025	HP:0001025	Urticaria	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0001025	HP:0001025	Urticaria	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0001025	HP:0001025	Urticaria	0	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0001025	HP:0001025	Urticaria	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	317
HP:0001025	HP:0001025	Urticaria	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040283 - Occasional	242
HP:0001025	HP:0001025	Urticaria	0	ELOVL4 CL E G H	6785	14415	ORPHA:1955	Spinocerebellar ataxia type 34	HP:0040281 - Very frequent	62
HP:0001025	HP:0001025	Urticaria	0	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	106
HP:0001025	HP:0001025	Urticaria	0	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	54
HP:0001025	HP:0001025	Urticaria	0	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	158
HP:0001025	HP:0001025	Urticaria	0	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	83
HP:0001025	HP:0001025	Urticaria	0	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	59
HP:0001025	HP:0001025	Urticaria	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0001025	HP:0001025	Urticaria	0	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	37
HP:0001025	HP:0001025	Urticaria	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0001025	HP:0001025	Urticaria	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional	32
HP:0001025	HP:0001025	Urticaria	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001025	HP:0001025	Urticaria	0	HLA-DQB1 CL E G H	3119	4944	ORPHA:703	Bullous pemphigoid	HP:0040281 - Very frequent
HP:0001025	HP:0001025	Urticaria	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:703	Bullous pemphigoid	HP:0040281 - Very frequent	2
HP:0001025	HP:0001025	Urticaria	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0001025	HP:0001025	Urticaria	0	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0001025	HP:0001025	Urticaria	0	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis		46
HP:0001025	HP:0001025	Urticaria	0	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis		4
HP:0001025	HP:0001025	Urticaria	0	KIT CL E G H	3815	6342	ORPHA:280785	Bullous diffuse cutaneous mastocytosis	HP:0040281 - Very frequent	327
HP:0001025	HP:0001025	Urticaria	0	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma	HP:0040281 - Very frequent	327
HP:0001025	HP:0001025	Urticaria	0	KIT CL E G H	3815	6342	OMIM:606764	Gastrointestinal stromal tumor	.	327
HP:0001025	HP:0001025	Urticaria	0	KIT CL E G H	3815	6342	OMIM:154800	Mastocytosis, cutaneous	.	327
HP:0001025	HP:0001025	Urticaria	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	327
HP:0001025	HP:0001025	Urticaria	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0001025	HP:0001025	Urticaria	0	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0001025	HP:0001025	Urticaria	0	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever	HP:0040282 - Frequent	150
HP:0001025	HP:0001025	Urticaria	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional	9
HP:0001025	HP:0001025	Urticaria	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0001025	HP:0001025	Urticaria	0	NLRC4 CL E G H	58484	16412	OMIM:616115	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4		30
HP:0001025	HP:0001025	Urticaria	0	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2		99
HP:0001025	HP:0001025	Urticaria	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040281 - Very frequent	217
HP:0001025	HP:0001025	Urticaria	0	NLRP3 CL E G H	114548	16400	OMIM:617772	Deafness, autosomal dominant 34, with or without inflammation	.	217
HP:0001025	HP:0001025	Urticaria	0	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1		217
HP:0001025	HP:0001025	Urticaria	0	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria	HP:0040281 - Very frequent	217
HP:0001025	HP:0001025	Urticaria	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040282 - Frequent	217
HP:0001025	HP:0001025	Urticaria	0	PIGT CL E G H	51604	14938	OMIM:615399	Paroxysmal nocturnal hemoglobinuria 2	.	12
HP:0001025	HP:0001025	Urticaria	0	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0001025	HP:0001025	Urticaria	0	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0001025	HP:0001025	Urticaria	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0001025	HP:0001025	Urticaria	0	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0001025	HP:0001025	Urticaria	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0001025	HP:0001025	Urticaria	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	181
HP:0001025	HP:0001025	Urticaria	0	SDHB CL E G H	6390	10681	OMIM:606764	Gastrointestinal stromal tumor	.	237
HP:0001025	HP:0001025	Urticaria	0	SDHC CL E G H	6391	10682	OMIM:606764	Gastrointestinal stromal tumor	.	147
HP:0001025	HP:0001025	Urticaria	0	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1	HP:0040281 - Very frequent	64
HP:0001025	HP:0001025	Urticaria	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0001025	HP:0001025	Urticaria	0	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS		26
HP:0001025	HP:0001025	Urticaria	0	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0001025	HP:0001025	Urticaria	0	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome	HP:0040281 - Very frequent	100
HP:0001025	HP:0001025	Urticaria	0	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.	100
HP:0001025	HP:0001025	Urticaria	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	1
HP:0001025	HP:0001025	Urticaria	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	1
HP:0001025	HP:0001025	Urticaria	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0001025	HP:0001025	Urticaria	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	3
HP:0001025	HP:0001025	Urticaria	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	3
HP:0001025	HP:0001025	Urticaria	0	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0001025	HP:0001025	Urticaria	0	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis		71
HP:0001025	HP:0001025	Urticaria	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	65
HP:0001025	HP:0001025	Urticaria	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	6
HP:0001025	HP:0410133	Chronic idiopathic urticaria	1	CL E G H
HP:0001025	HP:0033167	Neutrophilic urticarial dermatosis	1	CL E G H
HP:0001025	HP:0410134	Physical urticaria	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0001025	HP:0410134	Physical urticaria	1	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0001025	HP:0410134	Physical urticaria	1	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis		46
HP:0001025	HP:0410134	Physical urticaria	1	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis		4
HP:0001025	HP:0025081	Darier's sign	1	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma		327
HP:0001025	HP:0410134	Physical urticaria	1	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma		327
HP:0001025	HP:0410134	Physical urticaria	1	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0001025	HP:0410134	Physical urticaria	1	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0001025	HP:0410134	Physical urticaria	1	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0001025	HP:0410134	Physical urticaria	1	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1		64
HP:0001025	HP:0410134	Physical urticaria	1	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS		26
HP:0001025	HP:0410134	Physical urticaria	1	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0001025	HP:0410134	Physical urticaria	1	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0001025	HP:0410134	Physical urticaria	1	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0001025	HP:0410134	Physical urticaria	1	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis		71
HP:0001025	HP:0410138	Vibratory urticaria	2	CL E G H
HP:0001025	HP:0410137	Solar urticaria	2	CL E G H
HP:0001025	HP:0410136	Aquagenic urticaria	2	CL E G H
HP:0001025	HP:0410135	Cold urticaria	2	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0001025	HP:0011971	Dermatographic urticaria	2	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0001025	HP:0011971	Dermatographic urticaria	2	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent	46
HP:0001025	HP:0011971	Dermatographic urticaria	2	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent	4
HP:0001025	HP:0011971	Dermatographic urticaria	2	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma		327
HP:0001025	HP:0011971	Dermatographic urticaria	2	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0001025	HP:0410135	Cold urticaria	2	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0001025	HP:0011971	Dermatographic urticaria	2	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0001025	HP:0011971	Dermatographic urticaria	2	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0001025	HP:0011971	Dermatographic urticaria	2	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1	HP:0040281 - Very frequent	64
HP:0001025	HP:0011971	Dermatographic urticaria	2	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS		26
HP:0001025	HP:0011971	Dermatographic urticaria	2	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0001025	HP:0011971	Dermatographic urticaria	2	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0001025	HP:0011971	Dermatographic urticaria	2	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0001025	HP:0011971	Dermatographic urticaria	2	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent	71