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:0001795	HP:0001795	Hyperconvex nail	0	ARX CL E G H	170302	300004	Proud Levine Carpenter syndrome	300004	C0796124	OMIM	1	565	18060	300382
HP:0001795	HP:0001795	Hyperconvex nail	0	ARX CL E G H	170302	300004	Proud Levine Carpenter syndrome	300004	C0796124	OMIM	1	624	18060	300382
HP:0001795	HP:0001795	Hyperconvex nail	0	ECE1 CL E G H	1889	613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	613870	C3151237	OMIM	1	51	3146	600423
HP:0001795	HP:0001795	Hyperconvex nail	0	ECE1 CL E G H	1889	613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	613870	C3151237	OMIM	1	52	3146	600423
HP:0001795	HP:0001795	Hyperconvex nail	0	GJB6 CL E G H	10804	189	Elliott Ludman Teebi syndrome			ORPHA	1	214	4288	604418
HP:0001795	HP:0001795	Hyperconvex nail	0	GJB6 CL E G H	10804	189	Elliott Ludman Teebi syndrome			ORPHA	1	223	4288	604418
HP:0001795	HP:0001795	Hyperconvex nail	0	ORC1 CL E G H	4998	224690	Meier-Gorlin syndrome 1	224690	CN030358	OMIM	1	144	8487	601902
HP:0001795	HP:0001795	Hyperconvex nail	0	ORC1 CL E G H	4998	224690	Meier-Gorlin syndrome 1	224690	CN030358	OMIM	1	191	8487	601902
HP:0001795	HP:0001795	Hyperconvex nail	0	PIGV CL E G H	55650	239300	Hyperphosphatasia with mental retardation syndrome 1	239300	CN030519	OMIM	1	131	26031	610274
HP:0001795	HP:0001795	Hyperconvex nail	0	PIGV CL E G H	55650	239300	Hyperphosphatasia with mental retardation syndrome 1	239300	CN030519	OMIM	1	201	26031	610274
HP:0001795	HP:0001795	Hyperconvex nail	0	POMP CL E G H	51371	601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma	601952	C1866029	OMIM	1	49	20330	613386
HP:0001795	HP:0001795	Hyperconvex nail	0	POMP CL E G H	51371	601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma	601952	C1866029	OMIM	1	71	20330	613386
HP:0001795	HP:0001795	Hyperconvex nail	0	SETBP1 CL E G H	26040	269150	Schinzel-Giedion syndrome	269150	C0265227	OMIM	1	328	15573	611060
HP:0001795	HP:0001795	Hyperconvex nail	0	SETBP1 CL E G H	26040	269150	Schinzel-Giedion syndrome	269150	C0265227	OMIM	1	560	15573	611060
HP:0001795	HP:0001795	Hyperconvex nail	0	TP63 CL E G H	8626	106260	Hay-Wells syndrome of ectodermal dysplasia	106260	C0406709	OMIM	1	376	15979	603273
HP:0001795	HP:0001795	Hyperconvex nail	0	TP63 CL E G H	8626	106260	Hay-Wells syndrome of ectodermal dysplasia	106260	C0406709	OMIM	1	444	15979	603273
HP:0001795	HP:0008407	Hyperconvex thumb nails	1	ARX CL E G H	170302	300004	Proud Levine Carpenter syndrome	300004	C0796124	OMIM	1	565	18060	300382
HP:0001795	HP:0001812	Hyperconvex fingernails	1	ARX CL E G H	170302	300004	Proud Levine Carpenter syndrome	300004	C0796124	OMIM	1	624	18060	300382
HP:0001795	HP:0030055	Hyperconvex toenail	1	ARX CL E G H	170302	300004	Proud Levine Carpenter syndrome	300004	C0796124	OMIM	1	624	18060	300382
HP:0001795	HP:0001812	Hyperconvex fingernails	1	ARX CL E G H	170302	300004	Proud Levine Carpenter syndrome	300004	C0796124	OMIM	1	565	18060	300382
HP:0001795	HP:0030055	Hyperconvex toenail	1	ARX CL E G H	170302	300004	Proud Levine Carpenter syndrome	300004	C0796124	OMIM	1	565	18060	300382
HP:0001795	HP:0008407	Hyperconvex thumb nails	1	ARX CL E G H	170302	300004	Proud Levine Carpenter syndrome	300004	C0796124	OMIM	1	624	18060	300382
HP:0001795	HP:0008407	Hyperconvex thumb nails	1	ECE1 CL E G H	1889	613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	613870	C3151237	OMIM	1	51	3146	600423
HP:0001795	HP:0001812	Hyperconvex fingernails	1	ECE1 CL E G H	1889	613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	613870	C3151237	OMIM	1	52	3146	600423
HP:0001795	HP:0030055	Hyperconvex toenail	1	ECE1 CL E G H	1889	613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	613870	C3151237	OMIM	1	52	3146	600423
HP:0001795	HP:0001812	Hyperconvex fingernails	1	ECE1 CL E G H	1889	613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	613870	C3151237	OMIM	1	51	3146	600423
HP:0001795	HP:0030055	Hyperconvex toenail	1	ECE1 CL E G H	1889	613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	613870	C3151237	OMIM	1	51	3146	600423
HP:0001795	HP:0008407	Hyperconvex thumb nails	1	ECE1 CL E G H	1889	613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	613870	C3151237	OMIM	1	52	3146	600423
HP:0001795	HP:0008407	Hyperconvex thumb nails	1	GJB6 CL E G H	10804	189	Elliott Ludman Teebi syndrome			ORPHA	1	214	4288	604418
HP:0001795	HP:0001812	Hyperconvex fingernails	1	GJB6 CL E G H	10804	189	Elliott Ludman Teebi syndrome			ORPHA	1	223	4288	604418
HP:0001795	HP:0030055	Hyperconvex toenail	1	GJB6 CL E G H	10804	189	Elliott Ludman Teebi syndrome			ORPHA	1	223	4288	604418
HP:0001795	HP:0001812	Hyperconvex fingernails	1	GJB6 CL E G H	10804	189	Elliott Ludman Teebi syndrome			ORPHA	1	214	4288	604418
HP:0001795	HP:0030055	Hyperconvex toenail	1	GJB6 CL E G H	10804	189	Elliott Ludman Teebi syndrome			ORPHA	1	214	4288	604418
HP:0001795	HP:0008407	Hyperconvex thumb nails	1	GJB6 CL E G H	10804	189	Elliott Ludman Teebi syndrome			ORPHA	1	223	4288	604418
HP:0001795	HP:0008407	Hyperconvex thumb nails	1	ORC1 CL E G H	4998	224690	Meier-Gorlin syndrome 1	224690	CN030358	OMIM	1	144	8487	601902
HP:0001795	HP:0001812	Hyperconvex fingernails	1	ORC1 CL E G H	4998	224690	Meier-Gorlin syndrome 1	224690	CN030358	OMIM	1	191	8487	601902
HP:0001795	HP:0030055	Hyperconvex toenail	1	ORC1 CL E G H	4998	224690	Meier-Gorlin syndrome 1	224690	CN030358	OMIM	1	191	8487	601902
HP:0001795	HP:0001812	Hyperconvex fingernails	1	ORC1 CL E G H	4998	224690	Meier-Gorlin syndrome 1	224690	CN030358	OMIM	1	144	8487	601902
HP:0001795	HP:0030055	Hyperconvex toenail	1	ORC1 CL E G H	4998	224690	Meier-Gorlin syndrome 1	224690	CN030358	OMIM	1	144	8487	601902
HP:0001795	HP:0008407	Hyperconvex thumb nails	1	ORC1 CL E G H	4998	224690	Meier-Gorlin syndrome 1	224690	CN030358	OMIM	1	191	8487	601902
HP:0001795	HP:0008407	Hyperconvex thumb nails	1	PIGV CL E G H	55650	239300	Hyperphosphatasia with mental retardation syndrome 1	239300	CN030519	OMIM	1	131	26031	610274
HP:0001795	HP:0001812	Hyperconvex fingernails	1	PIGV CL E G H	55650	239300	Hyperphosphatasia with mental retardation syndrome 1	239300	CN030519	OMIM	1	201	26031	610274
HP:0001795	HP:0030055	Hyperconvex toenail	1	PIGV CL E G H	55650	239300	Hyperphosphatasia with mental retardation syndrome 1	239300	CN030519	OMIM	1	201	26031	610274
HP:0001795	HP:0001812	Hyperconvex fingernails	1	PIGV CL E G H	55650	239300	Hyperphosphatasia with mental retardation syndrome 1	239300	CN030519	OMIM	1	131	26031	610274
HP:0001795	HP:0030055	Hyperconvex toenail	1	PIGV CL E G H	55650	239300	Hyperphosphatasia with mental retardation syndrome 1	239300	CN030519	OMIM	1	131	26031	610274
HP:0001795	HP:0008407	Hyperconvex thumb nails	1	PIGV CL E G H	55650	239300	Hyperphosphatasia with mental retardation syndrome 1	239300	CN030519	OMIM	1	201	26031	610274
HP:0001795	HP:0008407	Hyperconvex thumb nails	1	POMP CL E G H	51371	601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma	601952	C1866029	OMIM	1	49	20330	613386
HP:0001795	HP:0030055	Hyperconvex toenail	1	POMP CL E G H	51371	601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma	601952	C1866029	OMIM	1	71	20330	613386
HP:0001795	HP:0001812	Hyperconvex fingernails	1	POMP CL E G H	51371	601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma	601952	C1866029	OMIM	1	71	20330	613386
HP:0001795	HP:0030055	Hyperconvex toenail	1	POMP CL E G H	51371	601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma	601952	C1866029	OMIM	1	49	20330	613386
HP:0001795	HP:0001812	Hyperconvex fingernails	1	POMP CL E G H	51371	601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma	601952	C1866029	OMIM	1	49	20330	613386
HP:0001795	HP:0008407	Hyperconvex thumb nails	1	POMP CL E G H	51371	601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma	601952	C1866029	OMIM	1	71	20330	613386
HP:0001795	HP:0008407	Hyperconvex thumb nails	1	SETBP1 CL E G H	26040	269150	Schinzel-Giedion syndrome	269150	C0265227	OMIM	1	328	15573	611060
HP:0001795	HP:0001812	Hyperconvex fingernails	1	SETBP1 CL E G H	26040	269150	Schinzel-Giedion syndrome	269150	C0265227	OMIM	1	560	15573	611060
HP:0001795	HP:0030055	Hyperconvex toenail	1	SETBP1 CL E G H	26040	269150	Schinzel-Giedion syndrome	269150	C0265227	OMIM	1	560	15573	611060
HP:0001795	HP:0030055	Hyperconvex toenail	1	SETBP1 CL E G H	26040	269150	Schinzel-Giedion syndrome	269150	C0265227	OMIM	1	328	15573	611060
HP:0001795	HP:0001812	Hyperconvex fingernails	1	SETBP1 CL E G H	26040	269150	Schinzel-Giedion syndrome	269150	C0265227	OMIM	1	328	15573	611060
HP:0001795	HP:0008407	Hyperconvex thumb nails	1	SETBP1 CL E G H	26040	269150	Schinzel-Giedion syndrome	269150	C0265227	OMIM	1	560	15573	611060
HP:0001795	HP:0008407	Hyperconvex thumb nails	1	TP63 CL E G H	8626	106260	Hay-Wells syndrome of ectodermal dysplasia	106260	C0406709	OMIM	1	376	15979	603273
HP:0001795	HP:0001812	Hyperconvex fingernails	1	TP63 CL E G H	8626	106260	Hay-Wells syndrome of ectodermal dysplasia	106260	C0406709	OMIM	1	444	15979	603273
HP:0001795	HP:0030055	Hyperconvex toenail	1	TP63 CL E G H	8626	106260	Hay-Wells syndrome of ectodermal dysplasia	106260	C0406709	OMIM	1	444	15979	603273
HP:0001795	HP:0001812	Hyperconvex fingernails	1	TP63 CL E G H	8626	106260	Hay-Wells syndrome of ectodermal dysplasia	106260	C0406709	OMIM	1	376	15979	603273
HP:0001795	HP:0030055	Hyperconvex toenail	1	TP63 CL E G H	8626	106260	Hay-Wells syndrome of ectodermal dysplasia	106260	C0406709	OMIM	1	376	15979	603273
HP:0001795	HP:0008407	Hyperconvex thumb nails	1	TP63 CL E G H	8626	106260	Hay-Wells syndrome of ectodermal dysplasia	106260	C0406709	OMIM	1	444	15979	603273
HPO disease - gene - phenotype less frequent non-typical associations: