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:0010783	HP:0010783	Erythema	0	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0010783	HP:0010783	Erythema	0	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	2
HP:0010783	HP:0010783	Erythema	0	ADGRE2 CL E G H	30817	3337	OMIM:125630	Dermodistortive urticaria		2
HP:0010783	HP:0010783	Erythema	0	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		95
HP:0010783	HP:0010783	Erythema	0	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome	HP:0040281 - Very frequent	87
HP:0010783	HP:0010783	Erythema	0	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	HP:0040283 - Occasional	75
HP:0010783	HP:0010783	Erythema	0	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	HP:0040283 - Occasional	63
HP:0010783	HP:0010783	Erythema	0	ALOXE3 CL E G H	59344	13743	OMIM:606545	Ichthyosis, congenital, autosomal recessive 3	HP:0040283 - Occasional	63
HP:0010783	HP:0010783	Erythema	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1		2
HP:0010783	HP:0010783	Erythema	0	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	.	1
HP:0010783	HP:0010783	Erythema	0	AQP5 CL E G H	362	638	ORPHA:2337	Non-epidermolytic palmoplantar keratoderma	HP:0040282 - Frequent	5
HP:0010783	HP:0010783	Erythema	0	ATP2C1 CL E G H	27032	13211	OMIM:169600	Benign chronic pemphigus	.	56
HP:0010783	HP:0010783	Erythema	0	ATP2C1 CL E G H	27032	13211	ORPHA:2841	Familial benign chronic pemphigus	HP:0040281 - Very frequent	56
HP:0010783	HP:0010783	Erythema	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0010783	HP:0010783	Erythema	0	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides	HP:0040281 - Very frequent
HP:0010783	HP:0010783	Erythema	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040283 - Occasional	102
HP:0010783	HP:0010783	Erythema	0	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent	3
HP:0010783	HP:0010783	Erythema	0	COL1A1 CL E G H	1277	2197	ORPHA:31112	Dermatofibrosarcoma protuberans	HP:0040281 - Very frequent	373
HP:0010783	HP:0010783	Erythema	0	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form	HP:0040282 - Frequent	263
HP:0010783	HP:0010783	Erythema	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0010783	HP:0010783	Erythema	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0010783	HP:0010783	Erythema	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0010783	HP:0010783	Erythema	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040281 - Very frequent	6
HP:0010783	HP:0010783	Erythema	0	CSTA CL E G H	1475	2481	ORPHA:263534	Acral peeling skin syndrome	HP:0040282 - Frequent	4
HP:0010783	HP:0010783	Erythema	0	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides	HP:0040281 - Very frequent	10
HP:0010783	HP:0010783	Erythema	0	CTSB CL E G H	1508	2527	ORPHA:50943	Keratolytic winter erythema	HP:0040281 - Very frequent	1
HP:0010783	HP:0010783	Erythema	0	CTSB CL E G H	1508	2527	OMIM:148370	Keratolytic winter erythema	.	1
HP:0010783	HP:0010783	Erythema	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	30
HP:0010783	HP:0010783	Erythema	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0010783	HP:0010783	Erythema	0	DSG4 CL E G H	147409	21307	OMIM:607903	Hypotrichosis 6	.	63
HP:0010783	HP:0010783	Erythema	0	DSP CL E G H	1832	3052	OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis	.	747
HP:0010783	HP:0010783	Erythema	0	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome		747
HP:0010783	HP:0010783	Erythema	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI		108
HP:0010783	HP:0010783	Erythema	0	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	257
HP:0010783	HP:0010783	Erythema	0	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation	.	62
HP:0010783	HP:0010783	Erythema	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	106
HP:0010783	HP:0010783	Erythema	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	54
HP:0010783	HP:0010783	Erythema	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	158
HP:0010783	HP:0010783	Erythema	0	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F		158
HP:0010783	HP:0010783	Erythema	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	83
HP:0010783	HP:0010783	Erythema	0	FECH CL E G H	2235	3647	ORPHA:79278	Autosomal erythropoietic protoporphyria	HP:0040281 - Very frequent	145
HP:0010783	HP:0010783	Erythema	0	FECH CL E G H	2235	3647	OMIM:177000	Protoporphyria, erythropoietic, 1	.	145
HP:0010783	HP:0010783	Erythema	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040281 - Very frequent	136
HP:0010783	HP:0010783	Erythema	0	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia		68
HP:0010783	HP:0010783	Erythema	0	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent	68
HP:0010783	HP:0010783	Erythema	0	GJA1 CL E G H	2697	4274	OMIM:617525	Erythrokeratodermia variabilis et progressiva 3	.	68
HP:0010783	HP:0010783	Erythema	0	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia		68
HP:0010783	HP:0010783	Erythema	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0010783	HP:0010783	Erythema	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0010783	HP:0010783	Erythema	0	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent	74
HP:0010783	HP:0010783	Erythema	0	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent	12
HP:0010783	HP:0010783	Erythema	0	GJB4 CL E G H	127534	4286	OMIM:617524	Erythrokeratodermia variabilis et progressiva 2	.	12
HP:0010783	HP:0010783	Erythema	0	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0010783	HP:0010783	Erythema	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0010783	HP:0010783	Erythema	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040281 - Very frequent	11
HP:0010783	HP:0010783	Erythema	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040281 - Very frequent	4
HP:0010783	HP:0010783	Erythema	0	HLA-DQB1 CL E G H	3119	4944	ORPHA:703	Bullous pemphigoid	HP:0040281 - Very frequent
HP:0010783	HP:0010783	Erythema	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:703	Bullous pemphigoid	HP:0040281 - Very frequent	2
HP:0010783	HP:0010783	Erythema	0	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1	.	55
HP:0010783	HP:0010783	Erythema	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040281 - Very frequent	52
HP:0010783	HP:0010783	Erythema	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0010783	HP:0010783	Erythema	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040281 - Very frequent	8
HP:0010783	HP:0010783	Erythema	0	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent	14
HP:0010783	HP:0010783	Erythema	0	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent	196
HP:0010783	HP:0010783	Erythema	0	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent	4
HP:0010783	HP:0010783	Erythema	0	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0010783	HP:0010783	Erythema	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	.	6
HP:0010783	HP:0010783	Erythema	0	KCNQ2 CL E G H	3785	6296	ORPHA:439218	KCNQ2-related epileptic encephalopathy		528
HP:0010783	HP:0010783	Erythema	0	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent	4
HP:0010783	HP:0010783	Erythema	0	KDSR CL E G H	2531	4021	OMIM:617526	Erythrokeratodermia variabilis et progressiva 4	.	4
HP:0010783	HP:0010783	Erythema	0	KDSR CL E G H	2531	4021	ORPHA:316	Progressive symmetric erythrokeratodermia	HP:0040281 - Very frequent	4
HP:0010783	HP:0010783	Erythema	0	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma		327
HP:0010783	HP:0010783	Erythema	0	KIT CL E G H	3815	6342	OMIM:154800	Mastocytosis, cutaneous	.	327
HP:0010783	HP:0010783	Erythema	0	KRT1 CL E G H	3848	6412	ORPHA:530838	KRT1-related diffuse nonepidermolytic keratoderma	HP:0040282 - Frequent	100
HP:0010783	HP:0010783	Erythema	0	KRT10 CL E G H	3858	6413	OMIM:607602	Ichthyosis, cyclic, with epidermolytic hyperkeratosis	.	45
HP:0010783	HP:0010783	Erythema	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040281 - Very frequent	110
HP:0010783	HP:0010783	Erythema	0	KRT2 CL E G H	3849	6439	ORPHA:455	Superficial epidermolytic ichthyosis	HP:0040283 - Occasional	67
HP:0010783	HP:0010783	Erythema	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040281 - Very frequent	173
HP:0010783	HP:0010783	Erythema	0	KRT5 CL E G H	3852	6442	ORPHA:158681	Epidermolysis bullosa simplex with circinate migratory erythema		173
HP:0010783	HP:0010783	Erythema	0	KRT5 CL E G H	3852	6442	OMIM:609352	EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA		173
HP:0010783	HP:0010783	Erythema	0	KRT83 CL E G H	3889	6460	ORPHA:316	Progressive symmetric erythrokeratodermia	HP:0040281 - Very frequent	65
HP:0010783	HP:0010783	Erythema	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent	88
HP:0010783	HP:0010783	Erythema	0	LIPN CL E G H	643418	23452	OMIM:613943	Ichthyosis, congenital, autosomal recessive 8	.	1
HP:0010783	HP:0010783	Erythema	0	LORICRIN CL E G H	4014	6663	ORPHA:316	Progressive symmetric erythrokeratodermia	HP:0040281 - Very frequent
HP:0010783	HP:0010783	Erythema	0	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata	HP:0040283 - Occasional	4
HP:0010783	HP:0010783	Erythema	0	LRP1 CL E G H	4035	6692	OMIM:604093	Keratosis pilaris atrophicans		4
HP:0010783	HP:0010783	Erythema	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent	22
HP:0010783	HP:0010783	Erythema	0	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked		22
HP:0010783	HP:0010783	Erythema	0	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040281 - Very frequent	22
HP:0010783	HP:0010783	Erythema	0	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040282 - Frequent	281
HP:0010783	HP:0010783	Erythema	0	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE		281
HP:0010783	HP:0010783	Erythema	0	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever	HP:0040283 - Occasional	150
HP:0010783	HP:0010783	Erythema	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0010783	HP:0010783	Erythema	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0010783	HP:0010783	Erythema	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0010783	HP:0010783	Erythema	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0010783	HP:0010783	Erythema	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0010783	HP:0010783	Erythema	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040281 - Very frequent	3
HP:0010783	HP:0010783	Erythema	0	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria	HP:0040281 - Very frequent	217
HP:0010783	HP:0010783	Erythema	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040281 - Very frequent	187
HP:0010783	HP:0010783	Erythema	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	.	34
HP:0010783	HP:0010783	Erythema	0	PDGFB CL E G H	5155	8800	ORPHA:31112	Dermatofibrosarcoma protuberans	HP:0040281 - Very frequent	9
HP:0010783	HP:0010783	Erythema	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040281 - Very frequent	66
HP:0010783	HP:0010783	Erythema	0	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040281 - Very frequent
HP:0010783	HP:0010783	Erythema	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0010783	HP:0010783	Erythema	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040281 - Very frequent	36
HP:0010783	HP:0010783	Erythema	0	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated	.	21
HP:0010783	HP:0010783	Erythema	0	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0010783	HP:0010783	Erythema	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040282 - Frequent	20
HP:0010783	HP:0010783	Erythema	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms	.	20
HP:0010783	HP:0010783	Erythema	0	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0010783	HP:0010783	Erythema	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040281 - Very frequent	445
HP:0010783	HP:0010783	Erythema	0	RHOH CL E G H	399	686	OMIM:618307	Epidermodysplasia verruciformis, susceptibility to, 4
HP:0010783	HP:0010783	Erythema	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional	7
HP:0010783	HP:0010783	Erythema	0	SCN10A CL E G H	6336	10582	ORPHA:90026	Primary erythromelalgia	HP:0040281 - Very frequent	146
HP:0010783	HP:0010783	Erythema	0	SCN11A CL E G H	11280	10583	ORPHA:90026	Primary erythromelalgia	HP:0040281 - Very frequent	19
HP:0010783	HP:0010783	Erythema	0	SCN9A CL E G H	6335	10597	ORPHA:90026	Primary erythromelalgia	HP:0040281 - Very frequent	318
HP:0010783	HP:0010783	Erythema	0	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1	.	64
HP:0010783	HP:0010783	Erythema	0	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica	HP:0040281 - Very frequent	55
HP:0010783	HP:0010783	Erythema	0	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type		55
HP:0010783	HP:0010783	Erythema	0	SLURP1 CL E G H	57152	18746	ORPHA:87503	Mal de Meleda		15
HP:0010783	HP:0010783	Erythema	0	SLURP1 CL E G H	57152	18746	OMIM:248300	Meleda disease		15
HP:0010783	HP:0010783	Erythema	0	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2		1
HP:0010783	HP:0010783	Erythema	0	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome	.	110
HP:0010783	HP:0010783	Erythema	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0010783	HP:0010783	Erythema	0	SULT2B1 CL E G H	6820	11459	OMIM:617571	Ichthyosis, congenital, autosomal recessive 14	.	4
HP:0010783	HP:0010783	Erythema	0	TGM1 CL E G H	7051	11777	ORPHA:281127	Acral self-healing collodion baby	HP:0040281 - Very frequent	98
HP:0010783	HP:0010783	Erythema	0	TGM5 CL E G H	9333	11781	ORPHA:263534	Acral peeling skin syndrome	HP:0040282 - Frequent	44
HP:0010783	HP:0010783	Erythema	0	TGM5 CL E G H	9333	11781	OMIM:609796	Peeling skin syndrome, Acral type	.	44
HP:0010783	HP:0010783	Erythema	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040282 - Frequent	131
HP:0010783	HP:0010783	Erythema	0	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides	HP:0040281 - Very frequent
HP:0010783	HP:0010783	Erythema	0	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent	4
HP:0010783	HP:0010783	Erythema	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1		56
HP:0010783	HP:0010783	Erythema	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0010783	HP:0010783	Erythema	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0010783	HP:0010783	Erythema	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0010783	HP:0010783	Erythema	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0010783	HP:0010783	Erythema	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0010783	HP:0010783	Erythema	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0010783	HP:0010783	Erythema	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0010783	HP:0010783	Erythema	0	TRPM4 CL E G H	54795	17993	ORPHA:316	Progressive symmetric erythrokeratodermia	HP:0040281 - Very frequent	124
HP:0010783	HP:0010783	Erythema	0	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040281 - Very frequent	151
HP:0010783	HP:0010783	Erythema	0	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		7
HP:0010783	HP:0010783	Erythema	0	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia	.	71
HP:0010783	HP:0010783	Erythema	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	34
HP:0010783	HP:0010783	Erythema	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	86
HP:0010783	HP:0010783	Erythema	0	XPNPEP2 CL E G H	7512	12823	ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema		4
HP:0010783	HP:0010783	Erythema	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent	9
HP:0010783	HP:0040323	Erythema of the eyelids	1	CL E G H
HP:0010783	HP:0033622	Migratory erythematous plaque	1	CL E G H
HP:0010783	HP:0031181	Necrolytic migratory erythema	1	CL E G H
HP:0010783	HP:0025536	V-sign	1	CL E G H
HP:0010783	HP:0025535	Shawl sign	1	CL E G H
HP:0010783	HP:0033194	Perioral erythema	1	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0010783	HP:0033195	Perianal erythema	1	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0010783	HP:0001041	Facial erythema	1	ADGRE2 CL E G H	30817	3337	OMIM:125630	Dermodistortive urticaria	.	2
HP:0010783	HP:0001041	Facial erythema	1	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	95
HP:0010783	HP:0001041	Facial erythema	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040282 - Frequent	2
HP:0010783	HP:0001041	Facial erythema	1	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0010783	HP:0025493	Palmoplantar erythema	1	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome		747
HP:0010783	HP:0001041	Facial erythema	1	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia		68
HP:0010783	HP:0025493	Palmoplantar erythema	1	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia		68
HP:0010783	HP:0025493	Palmoplantar erythema	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0010783	HP:0025493	Palmoplantar erythema	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0010783	HP:0001041	Facial erythema	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0010783	HP:0001041	Facial erythema	1	KCNQ2 CL E G H	3785	6296	ORPHA:439218	KCNQ2-related epileptic encephalopathy	HP:0040282 - Frequent	528
HP:0010783	HP:0031180	Erythema migrans	1	KRT5 CL E G H	3852	6442	ORPHA:158681	Epidermolysis bullosa simplex with circinate migratory erythema	HP:0040282 - Frequent	173
HP:0010783	HP:0031180	Erythema migrans	1	KRT5 CL E G H	3852	6442	OMIM:609352	EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA		173
HP:0010783	HP:0001041	Facial erythema	1	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked	.	22
HP:0010783	HP:0001041	Facial erythema	1	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040282 - Frequent	445
HP:0010783	HP:0001041	Facial erythema	1	RHOH CL E G H	399	686	OMIM:618307	Epidermodysplasia verruciformis, susceptibility to, 4	.
HP:0010783	HP:0033195	Perianal erythema	1	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type		55
HP:0010783	HP:0033194	Perioral erythema	1	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type		55
HP:0010783	HP:0033194	Perioral erythema	1	SLURP1 CL E G H	57152	18746	OMIM:248300	Meleda disease		15
HP:0010783	HP:0033194	Perioral erythema	1	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2		1
HP:0010783	HP:0001041	Facial erythema	1	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	7
HP:0010783	HP:0025493	Palmoplantar erythema	1	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71