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:0000968	HP:0000968	Ectodermal dysplasia	0	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant		5
HP:0000968	HP:0000968	Ectodermal dysplasia	0	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome	.	87
HP:0000968	HP:0000968	Ectodermal dysplasia	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0000968	HP:0000968	Ectodermal dysplasia	0	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	.	86
HP:0000968	HP:0000968	Ectodermal dysplasia	0	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		86
HP:0000968	HP:0000968	Ectodermal dysplasia	0	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	.	56
HP:0000968	HP:0000968	Ectodermal dysplasia	0	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0000968	HP:0000968	Ectodermal dysplasia	0	EDARADD CL E G H	128178	14341	OMIM:614940	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant		56
HP:0000968	HP:0000968	Ectodermal dysplasia	0	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	HP:0040280 - Obligate	56
HP:0000968	HP:0000968	Ectodermal dysplasia	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.	209
HP:0000968	HP:0000968	Ectodermal dysplasia	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.	137
HP:0000968	HP:0000968	Ectodermal dysplasia	0	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.	56
HP:0000968	HP:0000968	Ectodermal dysplasia	0	HOXC13 CL E G H	3229	5125	OMIM:614931	Ectodermal dysplasia 9, Hair/nail type		3
HP:0000968	HP:0000968	Ectodermal dysplasia	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0000968	HP:0000968	Ectodermal dysplasia	0	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3	.	11
HP:0000968	HP:0000968	Ectodermal dysplasia	0	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52
HP:0000968	HP:0000968	Ectodermal dysplasia	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040282 - Frequent	283
HP:0000968	HP:0000968	Ectodermal dysplasia	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040282 - Frequent	283
HP:0000968	HP:0000968	Ectodermal dysplasia	0	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type		5
HP:0000968	HP:0000968	Ectodermal dysplasia	0	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type		2
HP:0000968	HP:0000968	Ectodermal dysplasia	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22
HP:0000968	HP:0000968	Ectodermal dysplasia	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040281 - Very frequent	4
HP:0000968	HP:0000968	Ectodermal dysplasia	0	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome	.	4
HP:0000968	HP:0000968	Ectodermal dysplasia	0	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1	.	7
HP:0000968	HP:0000968	Ectodermal dysplasia	0	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT		27
HP:0000968	HP:0000968	Ectodermal dysplasia	0	NLRP1 CL E G H	22861	14374	OMIM:615225	Palmoplantar carcinoma, multiple self-healing	.	37
HP:0000968	HP:0000968	Ectodermal dysplasia	0	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9	.	19
HP:0000968	HP:0000968	Ectodermal dysplasia	0	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME		107
HP:0000968	HP:0000968	Ectodermal dysplasia	0	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome	.	6
HP:0000968	HP:0000968	Ectodermal dysplasia	0	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.	140
HP:0000968	HP:0000968	Ectodermal dysplasia	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate		140
HP:0000968	HP:0000968	Ectodermal dysplasia	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0000968	HP:0000968	Ectodermal dysplasia	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0000968	HP:0000968	Ectodermal dysplasia	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0000968	HP:0000968	Ectodermal dysplasia	0	WNT10A CL E G H	80326	13829	ORPHA:50944	Schöpf-Schulz-Passarge syndrome	HP:0040281 - Very frequent	71
HP:0000968	HP:0000968	Ectodermal dysplasia	0	WNT10A CL E G H	80326	13829	OMIM:224750	Schopf-Schulz-Passarge syndrome	.	71
HP:0000968	HP:0007529	Hidrotic ectodermal dysplasia	1	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant	.	5
HP:0000968	HP:0007607	Hypohidrotic ectodermal dysplasia	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0000968	HP:0007607	Hypohidrotic ectodermal dysplasia	1	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	86
HP:0000968	HP:0007607	Hypohidrotic ectodermal dysplasia	1	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0000968	HP:0007607	Hypohidrotic ectodermal dysplasia	1	EDARADD CL E G H	128178	14341	OMIM:614940	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant	.	56
HP:0000968	HP:0007436	Hair-nail ectodermal dysplasia	1	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type	.	5
HP:0000968	HP:0007436	Hair-nail ectodermal dysplasia	1	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type	.	2
HP:0000968	HP:0007476	Anhidrotic ectodermal dysplasia	1	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT	.	27
HP:0000968	HP:0007476	Anhidrotic ectodermal dysplasia	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.	140