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:0001806	HP:0001806	Onycholysis	0	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial		168
HP:0001806	HP:0001806	Onycholysis	0	CAST CL E G H	831	1515	OMIM:616295	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	.	4
HP:0001806	HP:0001806	Onycholysis	0	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1	.	7
HP:0001806	HP:0001806	Onycholysis	0	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa		263
HP:0001806	HP:0001806	Onycholysis	0	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form		263
HP:0001806	HP:0001806	Onycholysis	0	DSG1 CL E G H	1828	3048	OMIM:148700	Keratosis palmoplantaris striata I		16
HP:0001806	HP:0001806	Onycholysis	0	FZD6 CL E G H	8323	4044	OMIM:161050	Nail disorder, nonsyndromic congenital, 1	.	3
HP:0001806	HP:0001806	Onycholysis	0	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.	56
HP:0001806	HP:0001806	Onycholysis	0	HFE CL E G H	3077	4886	OMIM:176100	Porphyria cutanea tarda	.	38
HP:0001806	HP:0001806	Onycholysis	0	HLA-C CL E G H	3107	4933	OMIM:177900	Psoriasis 1, susceptibility to	.	2
HP:0001806	HP:0001806	Onycholysis	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.	28
HP:0001806	HP:0001806	Onycholysis	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	.	6
HP:0001806	HP:0001806	Onycholysis	0	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A		124
HP:0001806	HP:0001806	Onycholysis	0	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease	.	222
HP:0001806	HP:0001806	Onycholysis	0	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:0001806	HP:0001806	Onycholysis	0	KRT5 CL E G H	3852	6442	OMIM:619594	EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED; EBS2C		173
HP:0001806	HP:0001806	Onycholysis	0	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type	.	5
HP:0001806	HP:0001806	Onycholysis	0	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type	.	2
HP:0001806	HP:0001806	Onycholysis	0	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome		116
HP:0001806	HP:0001806	Onycholysis	0	UROD CL E G H	7389	12591	OMIM:176100	Porphyria cutanea tarda	.	31
HP:0001806	HP:0001806	Onycholysis	0	WNT10A CL E G H	80326	13829	OMIM:224750	Schopf-Schulz-Passarge syndrome	.	71
HP:0001806	HP:0040040	Toenail onycholysis	1	CL E G H
HP:0001806	HP:0008390	Recurrent loss of toenails and fingernails	1	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa	HP:0040283 - Occasional	263
HP:0001806	HP:0008390	Recurrent loss of toenails and fingernails	1	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form	HP:0040283 - Occasional	263
HP:0001806	HP:0025088	Onychomadesis	1	HLA-C CL E G H	3107	4933	OMIM:177900	Psoriasis 1, susceptibility to	.	2
HP:0001806	HP:0040039	Onycholysis of fingernails	1	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A		124
HP:0001806	HP:0025088	Onychomadesis	1	KRT5 CL E G H	3852	6442	OMIM:619594	EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED; EBS2C		173
HP:0001806	HP:0008390	Recurrent loss of toenails and fingernails	1	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome	.	116
HP:0001806	HP:0008400	Onycholysis of distal fingernails	2	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A		124