Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001808	HP:0001808	Fragile nails	0	ATP6V0A2 CL E G H	23545	278250	Wrinkly skin syndrome	278250	C0406587	OMIM	1	458	18481	611716
HP:0001808	HP:0001808	Fragile nails	0	ATP6V0A2 CL E G H	23545	278250	Wrinkly skin syndrome	278250	C0406587	OMIM	1	417	18481	611716
HP:0001808	HP:0001808	Fragile nails	0	COL17A1 CL E G H	1308	226650	Adult junctional epidermolysis bullosa	226650	C0268374	OMIM	1	406	2194	113811
HP:0001808	HP:0001808	Fragile nails	0	COL17A1 CL E G H	1308	226650	Adult junctional epidermolysis bullosa	226650	C0268374	OMIM	1	392	2194	113811
HP:0001808	HP:0001808	Fragile nails	0	DLX3 CL E G H	1747	3352				ORPHA	1	105	2916	600525
HP:0001808	HP:0001808	Fragile nails	0	DLX3 CL E G H	1747	3352				ORPHA	1	98	2916	600525
HP:0001808	HP:0001808	Fragile nails	0	DLX3 CL E G H	1747	190320	Tricho-dento-osseous syndrome	190320	C0265333	OMIM	1	105	2916	600525
HP:0001808	HP:0001808	Fragile nails	0	DLX3 CL E G H	1747	190320	Tricho-dento-osseous syndrome	190320	C0265333	OMIM	1	98	2916	600525
HP:0001808	HP:0001808	Fragile nails	0	EFNB1 CL E G H	1947	304110	Craniofrontonasal dysplasia	304110	C0220767	OMIM	1	210	3226	300035
HP:0001808	HP:0001808	Fragile nails	0	EFNB1 CL E G H	1947	304110	Craniofrontonasal dysplasia	304110	C0220767	OMIM	1	201	3226	300035
HP:0001808	HP:0001808	Fragile nails	0	ERCC2 CL E G H	2068	601675	Trichothiodystrophy 1, photosensitive	601675	C1866504	OMIM	1	479	3434	126340
HP:0001808	HP:0001808	Fragile nails	0	ERCC2 CL E G H	2068	601675	Trichothiodystrophy 1, photosensitive	601675	C1866504	OMIM	1	360	3434	126340
HP:0001808	HP:0001808	Fragile nails	0	GJA1 CL E G H	2697	164200	Oculodentodigital dysplasia	164200	C0812437	OMIM	1	191	4274	121014
HP:0001808	HP:0001808	Fragile nails	0	GJA1 CL E G H	2697	164200	Oculodentodigital dysplasia	164200	C0812437	OMIM	1	169	4274	121014
HP:0001808	HP:0001808	Fragile nails	0	GJB6 CL E G H	10804	189	Elliott Ludman Teebi syndrome			ORPHA	1	223	4288	604418
HP:0001808	HP:0001808	Fragile nails	0	GJB6 CL E G H	10804	189	Elliott Ludman Teebi syndrome			ORPHA	1	214	4288	604418
HP:0001808	HP:0001808	Fragile nails	0	HRAS CL E G H	3265	218040	Costello syndrome	218040	C0587248	OMIM	1	467	5173	190020
HP:0001808	HP:0001808	Fragile nails	0	HRAS CL E G H	3265	218040	Costello syndrome	218040	C0587248	OMIM	1	411	5173	190020
HP:0001808	HP:0001808	Fragile nails	0	ITGB4 CL E G H	3691	226650	Adult junctional epidermolysis bullosa	226650	C0268374	OMIM	1	407	6158	147557
HP:0001808	HP:0001808	Fragile nails	0	ITGB4 CL E G H	3691	226650	Adult junctional epidermolysis bullosa	226650	C0268374	OMIM	1	389	6158	147557
HP:0001808	HP:0001808	Fragile nails	0	KRT14 CL E G H	3861	161000	Naegeli-Franceschetti-Jadassohn syndrome	161000	C0343111	OMIM	1	155	6416	148066
HP:0001808	HP:0001808	Fragile nails	0	KRT14 CL E G H	3861	161000	Naegeli-Franceschetti-Jadassohn syndrome	161000	C0343111	OMIM	1	148	6416	148066
HP:0001808	HP:0001808	Fragile nails	0	LAMA3 CL E G H	3909	226650	Adult junctional epidermolysis bullosa	226650	C0268374	OMIM	1	855	6483	600805
HP:0001808	HP:0001808	Fragile nails	0	LAMA3 CL E G H	3909	226650	Adult junctional epidermolysis bullosa	226650	C0268374	OMIM	1	815	6483	600805
HP:0001808	HP:0001808	Fragile nails	0	LAMB3 CL E G H	3914	226650	Adult junctional epidermolysis bullosa	226650	C0268374	OMIM	1	664	6490	150310
HP:0001808	HP:0001808	Fragile nails	0	LAMB3 CL E G H	3914	226650	Adult junctional epidermolysis bullosa	226650	C0268374	OMIM	1	622	6490	150310
HP:0001808	HP:0001808	Fragile nails	0	LAMC2 CL E G H	3918	226650	Adult junctional epidermolysis bullosa	226650	C0268374	OMIM	1	579	6493	150292
HP:0001808	HP:0001808	Fragile nails	0	LAMC2 CL E G H	3918	226650	Adult junctional epidermolysis bullosa	226650	C0268374	OMIM	1	548	6493	150292
HP:0001808	HP:0001808	Fragile nails	0	LMNA CL E G H	4000	79474				ORPHA	1	1486	6636	150330
HP:0001808	HP:0001808	Fragile nails	0	LMNA CL E G H	4000	79474				ORPHA	1	1347	6636	150330
HP:0001808	HP:0001808	Fragile nails	0	MSX1 CL E G H	4487	2228	Facio thoraco genital syndrome			ORPHA	1	158	7391	142983
HP:0001808	HP:0001808	Fragile nails	0	MSX1 CL E G H	4487	2228	Facio thoraco genital syndrome			ORPHA	1	150	7391	142983
HP:0001808	HP:0001808	Fragile nails	0	PRKD1 CL E G H	5587	617364	Congenital heart defects and ectodermal dysplasia	617364	C4479250	OMIM	1	83	9407	605435
HP:0001808	HP:0001808	Fragile nails	0	PRKD1 CL E G H	5587	617364	Congenital heart defects and ectodermal dysplasia	617364	C4479250	OMIM	1	82	9407	605435
HP:0001808	HP:0001808	Fragile nails	0	SLURP1 CL E G H	57152	248300	Acroerythrokeratoderma	248300	C0025221	OMIM	1	81	18746	606119
HP:0001808	HP:0001808	Fragile nails	0	SLURP1 CL E G H	57152	248300	Acroerythrokeratoderma	248300	C0025221	OMIM	1	80	18746	606119
HP:0001808	HP:0001808	Fragile nails	0	TRPS1 CL E G H	7227	77258				ORPHA	1	336	12340	604386
HP:0001808	HP:0001808	Fragile nails	0	TRPS1 CL E G H	7227	77258				ORPHA	1	270	12340	604386
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001808	HP:0001808	Fragile nails	0	DSP CL E G H	1832	615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis	615821	C4014393	OMIM	0	2998	3052	125647
HP:0001808	HP:0001808	Fragile nails	0	DSP CL E G H	1832	615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis	615821	C4014393	OMIM	0	2652	3052	125647
HP:0001808	HP:0001808	Fragile nails	0	FTL CL E G H	2512	254704				ORPHA	0	138	3999	134790
HP:0001808	HP:0001808	Fragile nails	0	FTL CL E G H	2512	254704				ORPHA	0	109	3999	134790
HP:0001808	HP:0001808	Fragile nails	0	SMARCD2 CL E G H	6603	617475	Specific granule deficiency 2	617475	C4479548	OMIM	0	96	11107	601736
HP:0001808	HP:0001808	Fragile nails	0	SMARCD2 CL E G H	6603	617475	Specific granule deficiency 2	617475	C4479548	OMIM	0	42	11107	601736