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:0000787	HP:0000787	Nephrolithiasis	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	178
HP:0000787	HP:0000787	Nephrolithiasis	0	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	HP:0040282 - Frequent
HP:0000787	HP:0000787	Nephrolithiasis	0	ADCY10 CL E G H	55811	21285	OMIM:143870	Hypercalciuria, absorptive, susceptibility to		5
HP:0000787	HP:0000787	Nephrolithiasis	0	ADCY10 CL E G H	55811	21285	ORPHA:2197	Idiopathic hypercalciuria		5
HP:0000787	HP:0000787	Nephrolithiasis	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.	85
HP:0000787	HP:0000787	Nephrolithiasis	0	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I		260
HP:0000787	HP:0000787	Nephrolithiasis	0	AGXT CL E G H	189	341	ORPHA:93598	Primary hyperoxaluria type 1	HP:0040281 - Very frequent	260
HP:0000787	HP:0000787	Nephrolithiasis	0	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	95
HP:0000787	HP:0000787	Nephrolithiasis	0	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional
HP:0000787	HP:0000787	Nephrolithiasis	0	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	93
HP:0000787	HP:0000787	Nephrolithiasis	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040283 - Occasional	8
HP:0000787	HP:0000787	Nephrolithiasis	0	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III	HP:0040283 - Occasional	6
HP:0000787	HP:0000787	Nephrolithiasis	0	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency	.	19
HP:0000787	HP:0000787	Nephrolithiasis	0	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency	HP:0040282 - Frequent	19
HP:0000787	HP:0000787	Nephrolithiasis	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia	HP:0040282 - Frequent	7
HP:0000787	HP:0000787	Nephrolithiasis	0	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0000787	HP:0000787	Nephrolithiasis	0	ATP6V1B1 CL E G H	525	853	OMIM:267300	Renal tubular acidosis, distal, with progressive nerve deafness	.	67
HP:0000787	HP:0000787	Nephrolithiasis	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.	315
HP:0000787	HP:0000787	Nephrolithiasis	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000787	HP:0000787	Nephrolithiasis	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000787	HP:0000787	Nephrolithiasis	0	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	5
HP:0000787	HP:0000787	Nephrolithiasis	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.	105
HP:0000787	HP:0000787	Nephrolithiasis	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	1
HP:0000787	HP:0000787	Nephrolithiasis	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000787	HP:0000787	Nephrolithiasis	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0000787	HP:0000787	Nephrolithiasis	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities	HP:0040283 - Occasional	51
HP:0000787	HP:0000787	Nephrolithiasis	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040283 - Occasional	51
HP:0000787	HP:0000787	Nephrolithiasis	0	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent	1
HP:0000787	HP:0000787	Nephrolithiasis	0	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1		272
HP:0000787	HP:0000787	Nephrolithiasis	0	CASR CL E G H	846	1514	OMIM:145980	Hypocalciuric hypercalcemia, familial, type I	.	272
HP:0000787	HP:0000787	Nephrolithiasis	0	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2	.	169
HP:0000787	HP:0000787	Nephrolithiasis	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040282 - Frequent	169
HP:0000787	HP:0000787	Nephrolithiasis	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040282 - Frequent	169
HP:0000787	HP:0000787	Nephrolithiasis	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0000787	HP:0000787	Nephrolithiasis	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0000787	HP:0000787	Nephrolithiasis	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.	114
HP:0000787	HP:0000787	Nephrolithiasis	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0000787	HP:0000787	Nephrolithiasis	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0000787	HP:0000787	Nephrolithiasis	0	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0000787	HP:0000787	Nephrolithiasis	0	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0000787	HP:0000787	Nephrolithiasis	0	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0000787	HP:0000787	Nephrolithiasis	0	CHKA CL E G H	1119	1937	OMIM:620023
HP:0000787	HP:0000787	Nephrolithiasis	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040283 - Occasional	27
HP:0000787	HP:0000787	Nephrolithiasis	0	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0000787	HP:0000787	Nephrolithiasis	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1		112
HP:0000787	HP:0000787	Nephrolithiasis	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.	112
HP:0000787	HP:0000787	Nephrolithiasis	0	CLCN5 CL E G H	1184	2023	OMIM:310468	Nephrolithiasis, type I	.	112
HP:0000787	HP:0000787	Nephrolithiasis	0	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome		3
HP:0000787	HP:0000787	Nephrolithiasis	0	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.	58
HP:0000787	HP:0000787	Nephrolithiasis	0	CLDN19 CL E G H	149461	2040	ORPHA:2196	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement	HP:0040281 - Very frequent	42
HP:0000787	HP:0000787	Nephrolithiasis	0	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement	.	42
HP:0000787	HP:0000787	Nephrolithiasis	0	CLDN2 CL E G H	9075	2041	OMIM:301060	AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS; OAZON		2
HP:0000787	HP:0000787	Nephrolithiasis	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000787	HP:0000787	Nephrolithiasis	0	COQ6 CL E G H	51004	20233	OMIM:614650	Coenzyme Q10 deficiency, primary, 6		39
HP:0000787	HP:0000787	Nephrolithiasis	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional	291
HP:0000787	HP:0000787	Nephrolithiasis	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0000787	HP:0000787	Nephrolithiasis	0	CTH CL E G H	1491	2501	ORPHA:212	Cystathioninuria	HP:0040283 - Occasional	38
HP:0000787	HP:0000787	Nephrolithiasis	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.	178
HP:0000787	HP:0000787	Nephrolithiasis	0	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1	HP:0040283 - Occasional	73
HP:0000787	HP:0000787	Nephrolithiasis	0	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0000787	HP:0000787	Nephrolithiasis	0	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional
HP:0000787	HP:0000787	Nephrolithiasis	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000787	HP:0000787	Nephrolithiasis	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040283 - Occasional	13
HP:0000787	HP:0000787	Nephrolithiasis	0	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0000787	HP:0000787	Nephrolithiasis	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000787	HP:0000787	Nephrolithiasis	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0000787	HP:0000787	Nephrolithiasis	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	186
HP:0000787	HP:0000787	Nephrolithiasis	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0000787	HP:0000787	Nephrolithiasis	0	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome	HP:0040283 - Occasional	1361
HP:0000787	HP:0000787	Nephrolithiasis	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000787	HP:0000787	Nephrolithiasis	0	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0000787	HP:0000787	Nephrolithiasis	0	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	6
HP:0000787	HP:0000787	Nephrolithiasis	0	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0000787	HP:0000787	Nephrolithiasis	0	GCM2 CL E G H	9247	4198	OMIM:617343	Hyperparathyroidism 4	HP:0040283 - Occasional	51
HP:0000787	HP:0000787	Nephrolithiasis	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	8
HP:0000787	HP:0000787	Nephrolithiasis	0	GNA11 CL E G H	2767	4379	OMIM:145981	Hypocalciuric hypercalcemia, familial, type II	HP:0040283 - Occasional	16
HP:0000787	HP:0000787	Nephrolithiasis	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia	HP:0040282 - Frequent	101
HP:0000787	HP:0000787	Nephrolithiasis	0	GRHPR CL E G H	9380	4570	OMIM:260000	Hyperoxaluria, primary, type II		70
HP:0000787	HP:0000787	Nephrolithiasis	0	GRHPR CL E G H	9380	4570	ORPHA:93599	Primary hyperoxaluria type 2	HP:0040281 - Very frequent	70
HP:0000787	HP:0000787	Nephrolithiasis	0	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0000787	HP:0000787	Nephrolithiasis	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000787	HP:0000787	Nephrolithiasis	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000787	HP:0000787	Nephrolithiasis	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000787	HP:0000787	Nephrolithiasis	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0000787	HP:0000787	Nephrolithiasis	0	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0000787	HP:0000787	Nephrolithiasis	0	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria		77
HP:0000787	HP:0000787	Nephrolithiasis	0	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria	HP:0040282 - Frequent	77
HP:0000787	HP:0000787	Nephrolithiasis	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	2
HP:0000787	HP:0000787	Nephrolithiasis	0	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0000787	HP:0000787	Nephrolithiasis	0	HNF1B CL E G H	6928	11630	ORPHA:1309	Medullary sponge kidney	HP:0040281 - Very frequent	90
HP:0000787	HP:0000787	Nephrolithiasis	0	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome	.	90
HP:0000787	HP:0000787	Nephrolithiasis	0	HOGA1 CL E G H	112817	25155	OMIM:613616	HYPEROXALURIA, PRIMARY, TYPE III; HP3		83
HP:0000787	HP:0000787	Nephrolithiasis	0	HOGA1 CL E G H	112817	25155	ORPHA:93600	Primary hyperoxaluria type 3		83
HP:0000787	HP:0000787	Nephrolithiasis	0	HPRT1 CL E G H	3251	5157	OMIM:300323	Gout, hprt-related	.	76
HP:0000787	HP:0000787	Nephrolithiasis	0	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency		76
HP:0000787	HP:0000787	Nephrolithiasis	0	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome	.	76
HP:0000787	HP:0000787	Nephrolithiasis	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345
HP:0000787	HP:0000787	Nephrolithiasis	0	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	148
HP:0000787	HP:0000787	Nephrolithiasis	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.	9
HP:0000787	HP:0000787	Nephrolithiasis	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	HP:0040283 - Occasional	13
HP:0000787	HP:0000787	Nephrolithiasis	0	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0000787	HP:0000787	Nephrolithiasis	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.	730
HP:0000787	HP:0000787	Nephrolithiasis	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.	1
HP:0000787	HP:0000787	Nephrolithiasis	0	KRT17 CL E G H	3872	6427	ORPHA:841	Sebocystomatosis	HP:0040283 - Occasional	23
HP:0000787	HP:0000787	Nephrolithiasis	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000787	HP:0000787	Nephrolithiasis	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0000787	HP:0000787	Nephrolithiasis	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000787	HP:0000787	Nephrolithiasis	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	HP:0040283 - Occasional	11
HP:0000787	HP:0000787	Nephrolithiasis	0	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0000787	HP:0000787	Nephrolithiasis	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000787	HP:0000787	Nephrolithiasis	0	MOCOS CL E G H	55034	18234	OMIM:603592	Xanthinuria, type II	HP:0040283 - Occasional	4
HP:0000787	HP:0000787	Nephrolithiasis	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A		96
HP:0000787	HP:0000787	Nephrolithiasis	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B		26
HP:0000787	HP:0000787	Nephrolithiasis	0	MYL9 CL E G H	10398	15754	OMIM:619365	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
HP:0000787	HP:0000787	Nephrolithiasis	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0000787	HP:0000787	Nephrolithiasis	0	NHERF1 CL E G H	9368	11075	OMIM:612287	Nephrolithiasis/osteoporosis, hypophosphatemic, 2	.
HP:0000787	HP:0000787	Nephrolithiasis	0	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS		187
HP:0000787	HP:0000787	Nephrolithiasis	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0000787	HP:0000787	Nephrolithiasis	0	OPLAH CL E G H	26873	8149	OMIM:260005	5-@oxoprolinase deficiency		5
HP:0000787	HP:0000787	Nephrolithiasis	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome	HP:0040283 - Occasional	39
HP:0000787	HP:0000787	Nephrolithiasis	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0000787	HP:0000787	Nephrolithiasis	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0000787	HP:0000787	Nephrolithiasis	0	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0000787	HP:0000787	Nephrolithiasis	0	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	342
HP:0000787	HP:0000787	Nephrolithiasis	0	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	106
HP:0000787	HP:0000787	Nephrolithiasis	0	PLCD1 CL E G H	5333	9060	ORPHA:2387	Leukonychia totalis	HP:0040281 - Very frequent	5
HP:0000787	HP:0000787	Nephrolithiasis	0	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia	HP:0040283 - Occasional	11
HP:0000787	HP:0000787	Nephrolithiasis	0	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included	.	11
HP:0000787	HP:0000787	Nephrolithiasis	0	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent
HP:0000787	HP:0000787	Nephrolithiasis	0	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent	7
HP:0000787	HP:0000787	Nephrolithiasis	0	PREPL CL E G H	9581	30228	ORPHA:163690	Hypotonia-cystinuria syndrome	HP:0040281 - Very frequent	7
HP:0000787	HP:0000787	Nephrolithiasis	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0000787	HP:0000787	Nephrolithiasis	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0000787	HP:0000787	Nephrolithiasis	0	PRPS1 CL E G H	5631	9462	ORPHA:411536	Mild phosphoribosylpyrophosphate synthetase superactivity		49
HP:0000787	HP:0000787	Nephrolithiasis	0	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0000787	HP:0000787	Nephrolithiasis	0	PRPS1 CL E G H	5631	9462	ORPHA:411543	Severe phosphoribosylpyrophosphate synthetase superactivity		49
HP:0000787	HP:0000787	Nephrolithiasis	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000787	HP:0000787	Nephrolithiasis	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0000787	HP:0000787	Nephrolithiasis	0	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0000787	HP:0000787	Nephrolithiasis	0	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.	52
HP:0000787	HP:0000787	Nephrolithiasis	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare	143
HP:0000787	HP:0000787	Nephrolithiasis	0	SI CL E G H	6476	10856	OMIM:222900	Sucrase-isomaltase deficiency, congenital	.	98
HP:0000787	HP:0000787	Nephrolithiasis	0	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0000787	HP:0000787	Nephrolithiasis	0	SLC1A1 CL E G H	6505	10939	OMIM:222730	Dicarboxylicamino aciduria		71
HP:0000787	HP:0000787	Nephrolithiasis	0	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia		56
HP:0000787	HP:0000787	Nephrolithiasis	0	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1		56
HP:0000787	HP:0000787	Nephrolithiasis	0	SLC26A1 CL E G H	10861	10993	OMIM:167030	Nephrolithiasis, calcium oxalate		24
HP:0000787	HP:0000787	Nephrolithiasis	0	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0000787	HP:0000787	Nephrolithiasis	0	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia		57
HP:0000787	HP:0000787	Nephrolithiasis	0	SLC2A9 CL E G H	56606	13446	OMIM:612076	Hypouricemia, renal, 2	HP:0040283 - Occasional	57
HP:0000787	HP:0000787	Nephrolithiasis	0	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040282 - Frequent	47
HP:0000787	HP:0000787	Nephrolithiasis	0	SLC34A1 CL E G H	6569	11019	OMIM:612286	Nephrolithiasis/osteoporosis, hypophosphatemic, 1	.	47
HP:0000787	HP:0000787	Nephrolithiasis	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis		7
HP:0000787	HP:0000787	Nephrolithiasis	0	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040282 - Frequent	52
HP:0000787	HP:0000787	Nephrolithiasis	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary		52
HP:0000787	HP:0000787	Nephrolithiasis	0	SLC36A2 CL E G H	153201	18762	OMIM:138500	Glycinuria with or without oxalate urolithiasis		2
HP:0000787	HP:0000787	Nephrolithiasis	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional	110
HP:0000787	HP:0000787	Nephrolithiasis	0	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.	110
HP:0000787	HP:0000787	Nephrolithiasis	0	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent	55
HP:0000787	HP:0000787	Nephrolithiasis	0	SLC3A1 CL E G H	6519	11025	OMIM:220100	CYSTINURIA	.	55
HP:0000787	HP:0000787	Nephrolithiasis	0	SLC3A1 CL E G H	6519	11025	ORPHA:163690	Hypotonia-cystinuria syndrome	HP:0040281 - Very frequent	55
HP:0000787	HP:0000787	Nephrolithiasis	0	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant		109
HP:0000787	HP:0000787	Nephrolithiasis	0	SLC5A1 CL E G H	6523	11036	ORPHA:35710	Glucose-galactose malabsorption	HP:0040283 - Occasional	74
HP:0000787	HP:0000787	Nephrolithiasis	0	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0000787	HP:0000787	Nephrolithiasis	0	SLC6A19 CL E G H	340024	27960	OMIM:138500	Glycinuria with or without oxalate urolithiasis		12
HP:0000787	HP:0000787	Nephrolithiasis	0	SLC6A20 CL E G H	54716	30927	OMIM:138500	Glycinuria with or without oxalate urolithiasis		96
HP:0000787	HP:0000787	Nephrolithiasis	0	SLC7A9 CL E G H	11136	11067	OMIM:220100	CYSTINURIA	.	58
HP:0000787	HP:0000787	Nephrolithiasis	0	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0000787	HP:0000787	Nephrolithiasis	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	504
HP:0000787	HP:0000787	Nephrolithiasis	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0000787	HP:0000787	Nephrolithiasis	0	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0000787	HP:0000787	Nephrolithiasis	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000787	HP:0000787	Nephrolithiasis	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000787	HP:0000787	Nephrolithiasis	0	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0000787	HP:0000787	Nephrolithiasis	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000787	HP:0000787	Nephrolithiasis	0	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	7
HP:0000787	HP:0000787	Nephrolithiasis	0	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets	HP:0040282 - Frequent	104
HP:0000787	HP:0000787	Nephrolithiasis	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000787	HP:0000787	Nephrolithiasis	0	XDH CL E G H	7498	12805	OMIM:278300	Xanthinuria, type I		79
HP:0000787	HP:0033591	Staghorn calculus	1	CL E G H
HP:0000787	HP:0030035	Struvite nephrolithiasis	1	CL E G H
HP:0000787	HP:0004724	Calcium nephrolithiasis	1	ADCY10 CL E G H	55811	21285	OMIM:143870	Hypercalciuria, absorptive, susceptibility to		5
HP:0000787	HP:0004724	Calcium nephrolithiasis	1	ADCY10 CL E G H	55811	21285	ORPHA:2197	Idiopathic hypercalciuria		5
HP:0000787	HP:0004724	Calcium nephrolithiasis	1	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I		260
HP:0000787	HP:0000791	Uric acid nephrolithiasis	1	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency	HP:0040283 - Occasional	19
HP:0000787	HP:0004724	Calcium nephrolithiasis	1	GRHPR CL E G H	9380	4570	OMIM:260000	Hyperoxaluria, primary, type II		70
HP:0000787	HP:0004724	Calcium nephrolithiasis	1	HOGA1 CL E G H	112817	25155	OMIM:613616	HYPEROXALURIA, PRIMARY, TYPE III; HP3		83
HP:0000787	HP:0004724	Calcium nephrolithiasis	1	HOGA1 CL E G H	112817	25155	ORPHA:93600	Primary hyperoxaluria type 3		83
HP:0000787	HP:0000791	Uric acid nephrolithiasis	1	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency	HP:0040283 - Occasional	76
HP:0000787	HP:0000804	Xanthine nephrolithiasis	1	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.	96
HP:0000787	HP:0000804	Xanthine nephrolithiasis	1	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.	26
HP:0000787	HP:0004724	Calcium nephrolithiasis	1	OPLAH CL E G H	26873	8149	OMIM:260005	5-@oxoprolinase deficiency		5
HP:0000787	HP:0000791	Uric acid nephrolithiasis	1	PRPS1 CL E G H	5631	9462	ORPHA:411536	Mild phosphoribosylpyrophosphate synthetase superactivity	HP:0040282 - Frequent	49
HP:0000787	HP:0000791	Uric acid nephrolithiasis	1	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity	.	49
HP:0000787	HP:0000791	Uric acid nephrolithiasis	1	PRPS1 CL E G H	5631	9462	ORPHA:411543	Severe phosphoribosylpyrophosphate synthetase superactivity	HP:0040281 - Very frequent	49
HP:0000787	HP:0000791	Uric acid nephrolithiasis	1	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia		56
HP:0000787	HP:0000791	Uric acid nephrolithiasis	1	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1	.	56
HP:0000787	HP:0004724	Calcium nephrolithiasis	1	SLC26A1 CL E G H	10861	10993	OMIM:167030	Nephrolithiasis, calcium oxalate		24
HP:0000787	HP:0000791	Uric acid nephrolithiasis	1	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia		57
HP:0000787	HP:0004724	Calcium nephrolithiasis	1	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040284 - Very rare	7
HP:0000787	HP:0004724	Calcium nephrolithiasis	1	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0000787	HP:0004724	Calcium nephrolithiasis	1	SLC36A2 CL E G H	153201	18762	OMIM:138500	Glycinuria with or without oxalate urolithiasis		2
HP:0000787	HP:0004724	Calcium nephrolithiasis	1	SLC6A19 CL E G H	340024	27960	OMIM:138500	Glycinuria with or without oxalate urolithiasis		12
HP:0000787	HP:0004724	Calcium nephrolithiasis	1	SLC6A20 CL E G H	54716	30927	OMIM:138500	Glycinuria with or without oxalate urolithiasis		96
HP:0000787	HP:0000804	Xanthine nephrolithiasis	1	XDH CL E G H	7498	12805	OMIM:278300	Xanthinuria, type I	.	79
HP:0000787	HP:0012580	Calcium phosphate nephrolithiasis	2	CL E G H
HP:0000787	HP:0008672	Calcium oxalate nephrolithiasis	2	ADCY10 CL E G H	55811	21285	OMIM:143870	Hypercalciuria, absorptive, susceptibility to	.	5
HP:0000787	HP:0008672	Calcium oxalate nephrolithiasis	2	ADCY10 CL E G H	55811	21285	ORPHA:2197	Idiopathic hypercalciuria	HP:0040282 - Frequent	5
HP:0000787	HP:0008672	Calcium oxalate nephrolithiasis	2	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I	.	260
HP:0000787	HP:0008672	Calcium oxalate nephrolithiasis	2	GRHPR CL E G H	9380	4570	OMIM:260000	Hyperoxaluria, primary, type II	.	70
HP:0000787	HP:0008672	Calcium oxalate nephrolithiasis	2	HOGA1 CL E G H	112817	25155	OMIM:613616	HYPEROXALURIA, PRIMARY, TYPE III; HP3		83
HP:0000787	HP:0008672	Calcium oxalate nephrolithiasis	2	HOGA1 CL E G H	112817	25155	ORPHA:93600	Primary hyperoxaluria type 3	HP:0040281 - Very frequent	83
HP:0000787	HP:0008672	Calcium oxalate nephrolithiasis	2	OPLAH CL E G H	26873	8149	OMIM:260005	5-@oxoprolinase deficiency	.	5
HP:0000787	HP:0008651	Uric acid urolithiasis independent of gout	2	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia	HP:0040282 - Frequent	56
HP:0000787	HP:0008672	Calcium oxalate nephrolithiasis	2	SLC26A1 CL E G H	10861	10993	OMIM:167030	Nephrolithiasis, calcium oxalate	.	24
HP:0000787	HP:0008651	Uric acid urolithiasis independent of gout	2	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia	HP:0040282 - Frequent	57
HP:0000787	HP:0008672	Calcium oxalate nephrolithiasis	2	SLC36A2 CL E G H	153201	18762	OMIM:138500	Glycinuria with or without oxalate urolithiasis	.	2
HP:0000787	HP:0008672	Calcium oxalate nephrolithiasis	2	SLC6A19 CL E G H	340024	27960	OMIM:138500	Glycinuria with or without oxalate urolithiasis	.	12
HP:0000787	HP:0008672	Calcium oxalate nephrolithiasis	2	SLC6A20 CL E G H	54716	30927	OMIM:138500	Glycinuria with or without oxalate urolithiasis	.	96