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:0200035	HP:0200035	Skin plaque	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0200035	HP:0200035	Skin plaque	0	ATP2A2 CL E G H	488	812	ORPHA:79151	Acrokeratosis verruciformis of Hopf	HP:0040282 - Frequent	86
HP:0200035	HP:0200035	Skin plaque	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	1
HP:0200035	HP:0200035	Skin plaque	0	CARD14 CL E G H	79092	16446	OMIM:173200	Pityriasis rubra pilaris		33
HP:0200035	HP:0200035	Skin plaque	0	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides	HP:0040281 - Very frequent
HP:0200035	HP:0200035	Skin plaque	0	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma	HP:0040283 - Occasional	1371
HP:0200035	HP:0200035	Skin plaque	0	CIB1 CL E G H	10519	16920	ORPHA:302	Epidermodysplasia verruciformis	HP:0040281 - Very frequent
HP:0200035	HP:0200035	Skin plaque	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia		284
HP:0200035	HP:0200035	Skin plaque	0	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa	HP:0040282 - Frequent	263
HP:0200035	HP:0200035	Skin plaque	0	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form		263
HP:0200035	HP:0200035	Skin plaque	0	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides	HP:0040281 - Very frequent	10
HP:0200035	HP:0200035	Skin plaque	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0200035	HP:0200035	Skin plaque	0	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease		14
HP:0200035	HP:0200035	Skin plaque	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0200035	HP:0200035	Skin plaque	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0200035	HP:0200035	Skin plaque	0	GLMN CL E G H	11146	14373	ORPHA:83454	Glomuvenous malformation	HP:0040283 - Occasional	37
HP:0200035	HP:0200035	Skin plaque	0	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma
HP:0200035	HP:0200035	Skin plaque	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	2
HP:0200035	HP:0200035	Skin plaque	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0200035	HP:0200035	Skin plaque	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	23
HP:0200035	HP:0200035	Skin plaque	0	IL7 CL E G H	3574	6023	ORPHA:302	Epidermodysplasia verruciformis	HP:0040281 - Very frequent
HP:0200035	HP:0200035	Skin plaque	0	KDSR CL E G H	2531	4021	ORPHA:316	Progressive symmetric erythrokeratodermia	HP:0040281 - Very frequent	4
HP:0200035	HP:0200035	Skin plaque	0	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma		327
HP:0200035	HP:0200035	Skin plaque	0	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040282 - Frequent	110
HP:0200035	HP:0200035	Skin plaque	0	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040282 - Frequent	173
HP:0200035	HP:0200035	Skin plaque	0	KRT83 CL E G H	3889	6460	ORPHA:316	Progressive symmetric erythrokeratodermia	HP:0040281 - Very frequent	65
HP:0200035	HP:0200035	Skin plaque	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	116
HP:0200035	HP:0200035	Skin plaque	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	167
HP:0200035	HP:0200035	Skin plaque	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	135
HP:0200035	HP:0200035	Skin plaque	0	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency		35
HP:0200035	HP:0200035	Skin plaque	0	LORICRIN CL E G H	4014	6663	ORPHA:316	Progressive symmetric erythrokeratodermia	HP:0040281 - Very frequent
HP:0200035	HP:0200035	Skin plaque	0	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome		281
HP:0200035	HP:0200035	Skin plaque	0	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0200035	HP:0200035	Skin plaque	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0200035	HP:0200035	Skin plaque	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome		88
HP:0200035	HP:0200035	Skin plaque	0	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome		129
HP:0200035	HP:0200035	Skin plaque	0	TMC6 CL E G H	11322	18021	ORPHA:302	Epidermodysplasia verruciformis	HP:0040281 - Very frequent	10
HP:0200035	HP:0200035	Skin plaque	0	TMC8 CL E G H	147138	20474	ORPHA:302	Epidermodysplasia verruciformis	HP:0040281 - Very frequent	4
HP:0200035	HP:0200035	Skin plaque	0	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides	HP:0040281 - Very frequent
HP:0200035	HP:0200035	Skin plaque	0	TRPM4 CL E G H	54795	17993	OMIM:618531	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6; EKVP6		124
HP:0200035	HP:0200035	Skin plaque	0	TRPM4 CL E G H	54795	17993	ORPHA:316	Progressive symmetric erythrokeratodermia	HP:0040281 - Very frequent	124
HP:0200035	HP:0200035	Skin plaque	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	1090
HP:0200035	HP:0200035	Skin plaque	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	2738
HP:0200035	HP:0200035	Skin plaque	0	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS		35
HP:0200035	HP:0031359	Cutaneous sclerotic plaque	1	CL E G H
HP:0200035	HP:0031360	Yellow skin plaque	1	CL E G H
HP:0200035	HP:0030351	Urticarial plaque	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0200035	HP:0025474	Erythematous plaque	1	CARD14 CL E G H	79092	16446	OMIM:173200	Pityriasis rubra pilaris		33
HP:0200035	HP:0025474	Erythematous plaque	1	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040283 - Occasional	284
HP:0200035	HP:0025474	Erythematous plaque	1	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form	HP:0040282 - Frequent	263
HP:0200035	HP:0025474	Erythematous plaque	1	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0200035	HP:0025474	Erythematous plaque	1	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma	HP:0040282 - Frequent
HP:0200035	HP:0025474	Erythematous plaque	1	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	HP:0040282 - Frequent	35
HP:0200035	HP:0025474	Erythematous plaque	1	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040281 - Very frequent	281
HP:0200035	HP:0025474	Erythematous plaque	1	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0200035	HP:0025474	Erythematous plaque	1	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040282 - Frequent	88
HP:0200035	HP:0025474	Erythematous plaque	1	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome	HP:0040282 - Frequent	129
HP:0200035	HP:0025474	Erythematous plaque	1	TRPM4 CL E G H	54795	17993	OMIM:618531	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6; EKVP6		124