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 skin (HP:0000951)

Parent Node:
Abnormality of skin physiology (HP:0011122)

..Starting node
..Pruritus (HP:0000989)

Term ID:

989

Name:

Pruritus

Synonym:

Itching; Itchy skin; Skin itching

Definition:

Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.

Comments:

Reference:

HP:0000989

Genes and Diseases:

Child Nodes:

........

Vaginal pruritus (HP:0030161)

........

Pruritis on abdomen (HP:0030898)

........

Pruritis on hand (HP:0030899)

................... HP:0031248 Palmar pruritus

........

Pruritus on foot (HP:0030900)

........

Pruritis on breast (HP:0030901)

Sister Nodes:

Harlequin phenomenon (HP:0025531)

Impaired stimulus-induced skin wrinkling (HP:0030331)

Inflammatory abnormality of the skin (HP:0011123)

Positive pathergy test (HP:0025532)

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:0000989	HP:0000989	Pruritus	0	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040281 - Very frequent	130
HP:0000989	HP:0000989	Pruritus	0	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	130
HP:0000989	HP:0000989	Pruritus	0	ABCB11 CL E G H	8647	42	OMIM:605479	Cholestasis, benign recurrent intrahepatic, 2	.	146
HP:0000989	HP:0000989	Pruritus	0	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2	.	146
HP:0000989	HP:0000989	Pruritus	0	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040281 - Very frequent	146
HP:0000989	HP:0000989	Pruritus	0	ABCB4 CL E G H	5244	45	OMIM:614972	Cholestasis, intrahepatic, of pregnancy 3	.	111
HP:0000989	HP:0000989	Pruritus	0	ABCB4 CL E G H	5244	45	OMIM:602347	Cholestasis, progressive familial intrahepatic, 3	.	111
HP:0000989	HP:0000989	Pruritus	0	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040281 - Very frequent	111
HP:0000989	HP:0000989	Pruritus	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	415
HP:0000989	HP:0000989	Pruritus	0	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	75
HP:0000989	HP:0000989	Pruritus	0	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040281 - Very frequent	75
HP:0000989	HP:0000989	Pruritus	0	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	75
HP:0000989	HP:0000989	Pruritus	0	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040281 - Very frequent	63
HP:0000989	HP:0000989	Pruritus	0	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	63
HP:0000989	HP:0000989	Pruritus	0	AQP5 CL E G H	362	638	ORPHA:2337	Non-epidermolytic palmoplantar keratoderma	HP:0040282 - Frequent	5
HP:0000989	HP:0000989	Pruritus	0	ASPRV1 CL E G H	151516	26321	OMIM:146750	Ichthyosis, lamellar, autosomal dominant	.	1
HP:0000989	HP:0000989	Pruritus	0	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	1
HP:0000989	HP:0000989	Pruritus	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	145
HP:0000989	HP:0000989	Pruritus	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	145
HP:0000989	HP:0000989	Pruritus	0	ATP2A2 CL E G H	488	812	ORPHA:218	Darier disease	HP:0040281 - Very frequent	86
HP:0000989	HP:0000989	Pruritus	0	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease	.	86
HP:0000989	HP:0000989	Pruritus	0	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent	315
HP:0000989	HP:0000989	Pruritus	0	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1	.	144
HP:0000989	HP:0000989	Pruritus	0	ATP8B1 CL E G H	5205	3706	OMIM:147480	Cholestasis, intrahepatic, of pregnancy, 1	.	144
HP:0000989	HP:0000989	Pruritus	0	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1		144
HP:0000989	HP:0000989	Pruritus	0	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040281 - Very frequent	144
HP:0000989	HP:0000989	Pruritus	0	BRCA1 CL E G H	672	1100	ORPHA:70567	Cholangiocarcinoma	HP:0040282 - Frequent	5769
HP:0000989	HP:0000989	Pruritus	0	BRCA2 CL E G H	675	1101	ORPHA:70567	Cholangiocarcinoma	HP:0040282 - Frequent	7642
HP:0000989	HP:0000989	Pruritus	0	CARD14 CL E G H	79092	16446	ORPHA:2897	Pityriasis rubra pilaris	HP:0040282 - Frequent	33
HP:0000989	HP:0000989	Pruritus	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	317
HP:0000989	HP:0000989	Pruritus	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0000989	HP:0000989	Pruritus	0	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides	HP:0040281 - Very frequent
HP:0000989	HP:0000989	Pruritus	0	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome	HP:0040281 - Very frequent
HP:0000989	HP:0000989	Pruritus	0	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp		7
HP:0000989	HP:0000989	Pruritus	0	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1	.	7
HP:0000989	HP:0000989	Pruritus	0	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040281 - Very frequent	5
HP:0000989	HP:0000989	Pruritus	0	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma		1371
HP:0000989	HP:0000989	Pruritus	0	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	515
HP:0000989	HP:0000989	Pruritus	0	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	3
HP:0000989	HP:0000989	Pruritus	0	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa	HP:0040281 - Very frequent	263
HP:0000989	HP:0000989	Pruritus	0	COL7A1 CL E G H	1294	2214	OMIM:131850	Epidermolysis bullosa dystrophica, pretibial	.	263
HP:0000989	HP:0000989	Pruritus	0	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form	HP:0040282 - Frequent	263
HP:0000989	HP:0000989	Pruritus	0	CST6 CL E G H	1474	2478	OMIM:618535	Ectodermal dysplasia 15, Hypohidrotic/hair type
HP:0000989	HP:0000989	Pruritus	0	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides	HP:0040281 - Very frequent	10
HP:0000989	HP:0000989	Pruritus	0	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome	HP:0040281 - Very frequent	10
HP:0000989	HP:0000989	Pruritus	0	CTNNB1 CL E G H	1499	2514	ORPHA:91414	Pilomatrixoma		88
HP:0000989	HP:0000989	Pruritus	0	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	54
HP:0000989	HP:0000989	Pruritus	0	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal	.	8
HP:0000989	HP:0000989	Pruritus	0	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	94
HP:0000989	HP:0000989	Pruritus	0	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040281 - Very frequent	3
HP:0000989	HP:0000989	Pruritus	0	DSG4 CL E G H	147409	21307	OMIM:607903	Hypotrichosis 6	.	63
HP:0000989	HP:0000989	Pruritus	0	DSP CL E G H	1832	3052	OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis	HP:0040283 - Occasional	747
HP:0000989	HP:0000989	Pruritus	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	151
HP:0000989	HP:0000989	Pruritus	0	EPAS1 CL E G H	2034	3374	OMIM:611783	ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4		112
HP:0000989	HP:0000989	Pruritus	0	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia	HP:0040282 - Frequent	43
HP:0000989	HP:0000989	Pruritus	0	FDPS CL E G H	2224	3631	ORPHA:79152	Disseminated superficial actinic porokeratosis	HP:0040283 - Occasional	4
HP:0000989	HP:0000989	Pruritus	0	FECH CL E G H	2235	3647	ORPHA:79278	Autosomal erythropoietic protoporphyria	HP:0040281 - Very frequent	145
HP:0000989	HP:0000989	Pruritus	0	FECH CL E G H	2235	3647	OMIM:177000	Protoporphyria, erythropoietic, 1	.	145
HP:0000989	HP:0000989	Pruritus	0	FH CL E G H	2271	3700	ORPHA:523	Hereditary leiomyomatosis and renal cell cancer	HP:0040282 - Frequent	301
HP:0000989	HP:0000989	Pruritus	0	FLG2 CL E G H	388698	33276	OMIM:618084	Peeling skin syndrome 6	.
HP:0000989	HP:0000989	Pruritus	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040283 - Occasional	8
HP:0000989	HP:0000989	Pruritus	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040284 - Very rare	29
HP:0000989	HP:0000989	Pruritus	0	GPNMB CL E G H	10457	4462	OMIM:617920	Amyloidosis, primary localized cutaneous, 3	.
HP:0000989	HP:0000989	Pruritus	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	2
HP:0000989	HP:0000989	Pruritus	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040283 - Occasional	53
HP:0000989	HP:0000989	Pruritus	0	HLA-DRA CL E G H	3122	4947	ORPHA:505	Graham Little-Piccardi-Lassueur syndrome	HP:0040282 - Frequent
HP:0000989	HP:0000989	Pruritus	0	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1	HP:0040283 - Occasional	26
HP:0000989	HP:0000989	Pruritus	0	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0000989	HP:0000989	Pruritus	0	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	46
HP:0000989	HP:0000989	Pruritus	0	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	14
HP:0000989	HP:0000989	Pruritus	0	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	196
HP:0000989	HP:0000989	Pruritus	0	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	4
HP:0000989	HP:0000989	Pruritus	0	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	48
HP:0000989	HP:0000989	Pruritus	0	IL31RA CL E G H	133396	18969	OMIM:613955	Amyloidosis, primary localized cutaneous, 2	.	1
HP:0000989	HP:0000989	Pruritus	0	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	94
HP:0000989	HP:0000989	Pruritus	0	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	4
HP:0000989	HP:0000989	Pruritus	0	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent	57
HP:0000989	HP:0000989	Pruritus	0	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	57
HP:0000989	HP:0000989	Pruritus	0	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0000989	HP:0000989	Pruritus	0	KIT CL E G H	3815	6342	ORPHA:280785	Bullous diffuse cutaneous mastocytosis	HP:0040281 - Very frequent	327
HP:0000989	HP:0000989	Pruritus	0	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma	HP:0040281 - Very frequent	327
HP:0000989	HP:0000989	Pruritus	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	327
HP:0000989	HP:0000989	Pruritus	0	KRT10 CL E G H	3858	6413	OMIM:609165	Erythroderma, ichthyosiform, congenital reticular		45
HP:0000989	HP:0000989	Pruritus	0	KRT14 CL E G H	3861	6416	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040284 - Very rare	110
HP:0000989	HP:0000989	Pruritus	0	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex	HP:0040283 - Occasional	110
HP:0000989	HP:0000989	Pruritus	0	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040281 - Very frequent	110
HP:0000989	HP:0000989	Pruritus	0	KRT5 CL E G H	3852	6442	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040284 - Very rare	173
HP:0000989	HP:0000989	Pruritus	0	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	173
HP:0000989	HP:0000989	Pruritus	0	KRT5 CL E G H	3852	6442	ORPHA:158681	Epidermolysis bullosa simplex with circinate migratory erythema	HP:0040282 - Frequent	173
HP:0000989	HP:0000989	Pruritus	0	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040281 - Very frequent	173
HP:0000989	HP:0000989	Pruritus	0	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp		5
HP:0000989	HP:0000989	Pruritus	0	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome	.	70
HP:0000989	HP:0000989	Pruritus	0	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome	HP:0040281 - Very frequent	70
HP:0000989	HP:0000989	Pruritus	0	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	HP:0040284 - Very rare	35
HP:0000989	HP:0000989	Pruritus	0	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	88
HP:0000989	HP:0000989	Pruritus	0	LIPA CL E G H	3988	6617	ORPHA:75234	Cholesteryl ester storage disease	HP:0040283 - Occasional	73
HP:0000989	HP:0000989	Pruritus	0	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	1
HP:0000989	HP:0000989	Pruritus	0	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata	HP:0040283 - Occasional	4
HP:0000989	HP:0000989	Pruritus	0	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus	HP:0040283 - Occasional	124
HP:0000989	HP:0000989	Pruritus	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0000989	HP:0000989	Pruritus	0	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0000989	HP:0000989	Pruritus	0	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0000989	HP:0000989	Pruritus	0	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent	97
HP:0000989	HP:0000989	Pruritus	0	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	97
HP:0000989	HP:0000989	Pruritus	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	1
HP:0000989	HP:0000989	Pruritus	0	MVD CL E G H	4597	7529	ORPHA:79152	Disseminated superficial actinic porokeratosis	HP:0040283 - Occasional	2
HP:0000989	HP:0000989	Pruritus	0	MVK CL E G H	4598	7530	ORPHA:79152	Disseminated superficial actinic porokeratosis	HP:0040283 - Occasional	150
HP:0000989	HP:0000989	Pruritus	0	MVK CL E G H	4598	7530	ORPHA:735	Porokeratosis of Mibelli	HP:0040282 - Frequent	150
HP:0000989	HP:0000989	Pruritus	0	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0000989	HP:0000989	Pruritus	0	MYO5B CL E G H	4645	7603	ORPHA:2290	Microvillus inclusion disease	HP:0040282 - Frequent	192
HP:0000989	HP:0000989	Pruritus	0	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040281 - Very frequent	60
HP:0000989	HP:0000989	Pruritus	0	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	60
HP:0000989	HP:0000989	Pruritus	0	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria	HP:0040281 - Very frequent	217
HP:0000989	HP:0000989	Pruritus	0	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040281 - Very frequent	14
HP:0000989	HP:0000989	Pruritus	0	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus	HP:0040283 - Occasional	102
HP:0000989	HP:0000989	Pruritus	0	OSMR CL E G H	9180	8507	OMIM:105250	Amyloidosis, primary localized cutaneous, 1	.	5
HP:0000989	HP:0000989	Pruritus	0	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic	.	337
HP:0000989	HP:0000989	Pruritus	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040281 - Very frequent	66
HP:0000989	HP:0000989	Pruritus	0	PERP CL E G H	64065	17637	OMIM:619208	OLMSTED SYNDROME 2; OLMS2
HP:0000989	HP:0000989	Pruritus	0	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040283 - Occasional	563
HP:0000989	HP:0000989	Pruritus	0	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome	HP:0040283 - Occasional	107
HP:0000989	HP:0000989	Pruritus	0	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0000989	HP:0000989	Pruritus	0	PLEC CL E G H	5339	9069	OMIM:616487	Epidermolysis bullosa simplex with nail dystrophy		759
HP:0000989	HP:0000989	Pruritus	0	PMVK CL E G H	10654	9141	ORPHA:735	Porokeratosis of Mibelli	HP:0040282 - Frequent	3
HP:0000989	HP:0000989	Pruritus	0	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040281 - Very frequent	47
HP:0000989	HP:0000989	Pruritus	0	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	2
HP:0000989	HP:0000989	Pruritus	0	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	6
HP:0000989	HP:0000989	Pruritus	0	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0000989	HP:0000989	Pruritus	0	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	2
HP:0000989	HP:0000989	Pruritus	0	PTPN3 CL E G H	5774	9655	ORPHA:70567	Cholangiocarcinoma	HP:0040282 - Frequent	1
HP:0000989	HP:0000989	Pruritus	0	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	127
HP:0000989	HP:0000989	Pruritus	0	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	50
HP:0000989	HP:0000989	Pruritus	0	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	37
HP:0000989	HP:0000989	Pruritus	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	181
HP:0000989	HP:0000989	Pruritus	0	SCN10A CL E G H	6336	10582	ORPHA:90026	Primary erythromelalgia	HP:0040282 - Frequent	146
HP:0000989	HP:0000989	Pruritus	0	SCN11A CL E G H	11280	10583	OMIM:615548	Neuropathy, hereditary sensory and autonomic, type VII	.	19
HP:0000989	HP:0000989	Pruritus	0	SCN11A CL E G H	11280	10583	ORPHA:90026	Primary erythromelalgia	HP:0040282 - Frequent	19
HP:0000989	HP:0000989	Pruritus	0	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary	.	318
HP:0000989	HP:0000989	Pruritus	0	SCN9A CL E G H	6335	10597	ORPHA:90026	Primary erythromelalgia	HP:0040282 - Frequent	318
HP:0000989	HP:0000989	Pruritus	0	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	2
HP:0000989	HP:0000989	Pruritus	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0000989	HP:0000989	Pruritus	0	SLC17A9 CL E G H	63910	16192	ORPHA:79152	Disseminated superficial actinic porokeratosis	HP:0040283 - Occasional	3
HP:0000989	HP:0000989	Pruritus	0	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS		26
HP:0000989	HP:0000989	Pruritus	0	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0000989	HP:0000989	Pruritus	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	1
HP:0000989	HP:0000989	Pruritus	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	1
HP:0000989	HP:0000989	Pruritus	0	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11		4
HP:0000989	HP:0000989	Pruritus	0	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040281 - Very frequent	110
HP:0000989	HP:0000989	Pruritus	0	STX3 CL E G H	6809	11438	ORPHA:2290	Microvillus inclusion disease	HP:0040282 - Frequent	1
HP:0000989	HP:0000989	Pruritus	0	SULT2B1 CL E G H	6820	11459	OMIM:617571	Ichthyosis, congenital, autosomal recessive 14	.	4
HP:0000989	HP:0000989	Pruritus	0	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	4
HP:0000989	HP:0000989	Pruritus	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	241
HP:0000989	HP:0000989	Pruritus	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	3
HP:0000989	HP:0000989	Pruritus	0	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	3
HP:0000989	HP:0000989	Pruritus	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	3
HP:0000989	HP:0000989	Pruritus	0	TGM1 CL E G H	7051	11777	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040281 - Very frequent	98
HP:0000989	HP:0000989	Pruritus	0	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	98
HP:0000989	HP:0000989	Pruritus	0	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent	23
HP:0000989	HP:0000989	Pruritus	0	TJP2 CL E G H	9414	11828	OMIM:607748	Hypercholanemia, familial	.	149
HP:0000989	HP:0000989	Pruritus	0	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides	HP:0040281 - Very frequent
HP:0000989	HP:0000989	Pruritus	0	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome	HP:0040281 - Very frequent
HP:0000989	HP:0000989	Pruritus	0	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0000989	HP:0000989	Pruritus	0	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	71
HP:0000989	HP:0000989	Pruritus	0	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	4
HP:0000989	HP:0000989	Pruritus	0	TRPM4 CL E G H	54795	17993	OMIM:618531	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6; EKVP6		124
HP:0000989	HP:0000989	Pruritus	0	TRPV3 CL E G H	162514	18084	OMIM:614594	Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques	.	151
HP:0000989	HP:0000989	Pruritus	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0000989	HP:0000989	Pruritus	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040284 - Very rare	31
HP:0000989	HP:0000989	Pruritus	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040284 - Very rare	41
HP:0000989	HP:0000989	Pruritus	0	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0000989	HP:0000989	Pruritus	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2		27
HP:0000989	HP:0000989	Pruritus	0	VPS33B CL E G H	26276	12712	OMIM:620010			63
HP:0000989	HP:0000989	Pruritus	0	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0000989	HP:0000989	Pruritus	0	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive	.	1
HP:0000989	HP:0032004	Pruritus vulvae	1	CL E G H
HP:0000989	HP:0030901	Pruritis on breast	1	CL E G H
HP:0000989	HP:0030898	Pruritis on abdomen	1	CL E G H
HP:0000989	HP:0030161	Vaginal pruritus	1	CL E G H
HP:0000989	HP:0033841	Ocular pruritus	1	CL E G H
HP:0000989	HP:0030899	Pruritis on hand	1	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy		146
HP:0000989	HP:0030900	Pruritus on foot	1	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	146
HP:0000989	HP:0030899	Pruritis on hand	1	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy		111
HP:0000989	HP:0030900	Pruritus on foot	1	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	111
HP:0000989	HP:0030899	Pruritis on hand	1	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy		144
HP:0000989	HP:0030900	Pruritus on foot	1	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	144
HP:0000989	HP:0030899	Pruritis on hand	1	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma		1371
HP:0000989	HP:0030899	Pruritis on hand	1	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy		14
HP:0000989	HP:0030900	Pruritus on foot	1	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	14
HP:0000989	HP:0031248	Palmar pruritus	2	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	146
HP:0000989	HP:0031248	Palmar pruritus	2	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	111
HP:0000989	HP:0031248	Palmar pruritus	2	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	144
HP:0000989	HP:0031248	Palmar pruritus	2	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma	HP:0040282 - Frequent	1371
HP:0000989	HP:0031248	Palmar pruritus	2	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	14

Genes (134) :ABCA12 ABCB11 ABCB4 ABCC6 ADA ALOX12B ALOXE3 AQP5 ASPRV1 ASXL1 ATP2A2 ATP7B ATP8B1 BRCA1 BRCA2 CARD14 CBL CCDC47 CD28 CDSN CERS3 CFTR CHD7 CLEC7A COL7A1 CST6 CTLA4 CTNNB1 CYP4F22 DCDC2 DCLRE1C DNASE1L3 DSG4 DSP ENPP1 EPAS1 EPOR FDPS FECH FH FLG2 FLI1 GATA1 GPNMB GPR35 GSN HLA-DRA HSD3B7 IL12A IL12RB1 IL17F IL17RA IL17RC IL2RG IL31RA IL7R IRF5 JAK2 KIF12 KIT KRT10 KRT14 KRT5 KRT74 LBR LDHA LIG4 LIPA LIPN LRP1 MC1R MED12 MIA3 MMEL1 MPL MST1 MVD MVK MYO5B NIPAL4 NLRP3 NR1H4 NRAS OSMR PDGFRA PEPD PERP PKHD1 PKP1 PLCG2 PLEC PMVK PNPLA1 POFUT1 POGLUT1 POU2AF1 PSENEN PTPN3 RAG1 RAG2 RMRP RUNX1 SCN10A SCN11A SCN9A SDR9C7 SEMA4D SLC17A9 SLC27A4 SPIB SRSF2 ST14 STAT3 STX3 SULT2B1 TCF4 TET2 TGM1 THPO TJP2 TNFRSF1B TNFSF15 TNPO3 TRAF3IP2 TRPM4 TRPV3 UNC45A UROD UROS USP53 VIPAS39 VPS33B ZFYVE19 ZNF341

Diseases (101) :ORPHA:79394 ORPHA:313 OMIM:605479 OMIM:601847 ORPHA:69665 OMIM:614972 OMIM:602347 ORPHA:758 ORPHA:39041 ORPHA:2337 OMIM:146750 ORPHA:98850 ORPHA:98849 ORPHA:218 OMIM:124200 ORPHA:905 OMIM:243300 OMIM:147480 OMIM:211600 ORPHA:70567 ORPHA:2897 OMIM:618268 ORPHA:2584 ORPHA:3162 ORPHA:90368 OMIM:270300 ORPHA:498359 ORPHA:1334 ORPHA:89843 OMIM:131850 ORPHA:79410 OMIM:618535 ORPHA:91414 OMIM:617394 ORPHA:36412 OMIM:607903 OMIM:615821 OMIM:611783 ORPHA:90042 ORPHA:79152 ORPHA:79278 OMIM:177000 ORPHA:523 OMIM:618084 ORPHA:370348 ORPHA:79277 OMIM:617920 ORPHA:171 ORPHA:85448 ORPHA:505 ORPHA:79301 ORPHA:186 OMIM:613955 ORPHA:71493 ORPHA:729 OMIM:619662 ORPHA:280785 ORPHA:79455 OMIM:609165 ORPHA:79399 ORPHA:89838 ORPHA:79400 ORPHA:79145 ORPHA:158681 OMIM:613471 ORPHA:779 ORPHA:284426 ORPHA:75234 ORPHA:79100 ORPHA:626 OMIM:301068 OMIM:619269 ORPHA:735 OMIM:619868 ORPHA:2290 ORPHA:47045 OMIM:105250 OMIM:607685 ORPHA:742 OMIM:619208 ORPHA:53035 ORPHA:158668 OMIM:614468 OMIM:616487 ORPHA:90026 OMIM:615548 OMIM:133020 OMIM:608649 OMIM:602400 ORPHA:2314 OMIM:617571 OMIM:607748 OMIM:618531 OMIM:614594 OMIM:619377 ORPHA:95159 OMIM:619658 OMIM:613404 OMIM:620010 OMIM:619849 OMIM:618282

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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