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:0002157	HP:0002157	Azotemia	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia		15
HP:0002157	HP:0002157	Azotemia	0	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria		15
HP:0002157	HP:0002157	Azotemia	0	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0002157	HP:0002157	Azotemia	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency		197
HP:0002157	HP:0002157	Azotemia	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency		200
HP:0002157	HP:0002157	Azotemia	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0002157	HP:0002157	Azotemia	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency		91
HP:0002157	HP:0002157	Azotemia	0	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary		129
HP:0002157	HP:0002157	Azotemia	0	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary		73
HP:0002157	HP:0002157	Azotemia	0	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance		73
HP:0002157	HP:0002157	Azotemia	0	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0002157	HP:0002157	Azotemia	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0002157	HP:0002157	Azotemia	0	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease		93
HP:0002157	HP:0002157	Azotemia	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome		404
HP:0002157	HP:0002157	Azotemia	0	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency		19
HP:0002157	HP:0002157	Azotemia	0	ARG1 CL E G H	383	663	OMIM:207800	Argininemia		31
HP:0002157	HP:0002157	Azotemia	0	ARG1 CL E G H	383	663	ORPHA:90	Argininemia		31
HP:0002157	HP:0002157	Azotemia	0	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria		81
HP:0002157	HP:0002157	Azotemia	0	ASL CL E G H	435	746	ORPHA:23	Argininosuccinic aciduria		81
HP:0002157	HP:0002157	Azotemia	0	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic		119
HP:0002157	HP:0002157	Azotemia	0	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0002157	HP:0002157	Azotemia	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0002157	HP:0002157	Azotemia	0	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease		5
HP:0002157	HP:0002157	Azotemia	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency		223
HP:0002157	HP:0002157	Azotemia	0	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset		223
HP:0002157	HP:0002157	Azotemia	0	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5		92
HP:0002157	HP:0002157	Azotemia	0	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency		10
HP:0002157	HP:0002157	Azotemia	0	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50		10
HP:0002157	HP:0002157	Azotemia	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27		35
HP:0002157	HP:0002157	Azotemia	0	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2		247
HP:0002157	HP:0002157	Azotemia	0	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma		1
HP:0002157	HP:0002157	Azotemia	0	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2		39
HP:0002157	HP:0002157	Azotemia	0	CFB CL E G H	629	1037	OMIM:612924	Hemolytic uremic syndrome, atypical, susceptibility to, 4		30
HP:0002157	HP:0002157	Azotemia	0	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1		86
HP:0002157	HP:0002157	Azotemia	0	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0002157	HP:0002157	Azotemia	0	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0002157	HP:0002157	Azotemia	0	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3		57
HP:0002157	HP:0002157	Azotemia	0	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal		58
HP:0002157	HP:0002157	Azotemia	0	COL4A3 CL E G H	1285	2204	OMIM:104200	Alport syndrome, autosomal dominant	.	161
HP:0002157	HP:0002157	Azotemia	0	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8		1
HP:0002157	HP:0002157	Azotemia	0	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia		5
HP:0002157	HP:0002157	Azotemia	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0002157	HP:0002157	Azotemia	0	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to		124
HP:0002157	HP:0002157	Azotemia	0	CPS1 CL E G H	1373	2323	ORPHA:147	Carbamoyl-phosphate synthetase 1 deficiency		124
HP:0002157	HP:0002157	Azotemia	0	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency		99
HP:0002157	HP:0002157	Azotemia	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form		101
HP:0002157	HP:0002157	Azotemia	0	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile		101
HP:0002157	HP:0002157	Azotemia	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0002157	HP:0002157	Azotemia	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis		178
HP:0002157	HP:0002157	Azotemia	0	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6		12
HP:0002157	HP:0002157	Azotemia	0	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency		80
HP:0002157	HP:0002157	Azotemia	0	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital		80
HP:0002157	HP:0002157	Azotemia	0	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency		89
HP:0002157	HP:0002157	Azotemia	0	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0002157	HP:0002157	Azotemia	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome		2
HP:0002157	HP:0002157	Azotemia	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0002157	HP:0002157	Azotemia	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III		133
HP:0002157	HP:0002157	Azotemia	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1		158
HP:0002157	HP:0002157	Azotemia	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1		199
HP:0002157	HP:0002157	Azotemia	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1		55
HP:0002157	HP:0002157	Azotemia	0	FAN1 CL E G H	22909	29170	OMIM:614817	Interstitial nephritis, karyomegalic		15
HP:0002157	HP:0002157	Azotemia	0	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency		64
HP:0002157	HP:0002157	Azotemia	0	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia		11
HP:0002157	HP:0002157	Azotemia	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0002157	HP:0002157	Azotemia	0	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0002157	HP:0002157	Azotemia	0	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease		6
HP:0002157	HP:0002157	Azotemia	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome		86
HP:0002157	HP:0002157	Azotemia	0	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6		56
HP:0002157	HP:0002157	Azotemia	0	GLUD1 CL E G H	2746	4335	ORPHA:35878	Hyperinsulinism-hyperammonemia syndrome		56
HP:0002157	HP:0002157	Azotemia	0	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0002157	HP:0002157	Azotemia	0	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0002157	HP:0002157	Azotemia	0	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C		18
HP:0002157	HP:0002157	Azotemia	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency		41
HP:0002157	HP:0002157	Azotemia	0	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency		99
HP:0002157	HP:0002157	Azotemia	0	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency		60
HP:0002157	HP:0002157	Azotemia	0	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia		580
HP:0002157	HP:0002157	Azotemia	0	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency		148
HP:0002157	HP:0002157	Azotemia	0	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency		148
HP:0002157	HP:0002157	Azotemia	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria		35
HP:0002157	HP:0002157	Azotemia	0	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency		35
HP:0002157	HP:0002157	Azotemia	0	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease		90
HP:0002157	HP:0002157	Azotemia	0	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0002157	HP:0002157	Azotemia	0	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young		138
HP:0002157	HP:0002157	Azotemia	0	HPRT1 CL E G H	3251	5157	OMIM:300323	Gout, hprt-related		76
HP:0002157	HP:0002157	Azotemia	0	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency		76
HP:0002157	HP:0002157	Azotemia	0	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome		76
HP:0002157	HP:0002157	Azotemia	0	HPRT1 CL E G H	3251	5157	ORPHA:510	Lesch-Nyhan syndrome		76
HP:0002157	HP:0002157	Azotemia	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type		19
HP:0002157	HP:0002157	Azotemia	0	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease		148
HP:0002157	HP:0002157	Azotemia	0	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2		106
HP:0002157	HP:0002157	Azotemia	0	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII		56
HP:0002157	HP:0002157	Azotemia	0	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0002157	HP:0002157	Azotemia	0	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency		81
HP:0002157	HP:0002157	Azotemia	0	MCCC1 CL E G H	56922	6936	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency		81
HP:0002157	HP:0002157	Azotemia	0	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency		77
HP:0002157	HP:0002157	Azotemia	0	MCCC2 CL E G H	64087	6937	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency		77
HP:0002157	HP:0002157	Azotemia	0	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII		77
HP:0002157	HP:0002157	Azotemia	0	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome		950
HP:0002157	HP:0002157	Azotemia	0	MLIP CL E G H	90523	21355	OMIM:620138
HP:0002157	HP:0002157	Azotemia	0	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type		113
HP:0002157	HP:0002157	Azotemia	0	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type		127
HP:0002157	HP:0002157	Azotemia	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0002157	HP:0002157	Azotemia	0	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0002157	HP:0002157	Azotemia	0	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0002157	HP:0002157	Azotemia	0	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0002157	HP:0002157	Azotemia	0	MOCOS CL E G H	55034	18234	OMIM:603592	Xanthinuria, type II		4
HP:0002157	HP:0002157	Azotemia	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A		96
HP:0002157	HP:0002157	Azotemia	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B		26
HP:0002157	HP:0002157	Azotemia	0	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0002157	HP:0002157	Azotemia	0	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2		1
HP:0002157	HP:0002157	Azotemia	0	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0002157	HP:0002157	Azotemia	0	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency		36
HP:0002157	HP:0002157	Azotemia	0	NAGS CL E G H	162417	17996	OMIM:237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY		36
HP:0002157	HP:0002157	Azotemia	0	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2		25
HP:0002157	HP:0002157	Azotemia	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0002157	HP:0002157	Azotemia	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome		39
HP:0002157	HP:0002157	Azotemia	0	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1		85
HP:0002157	HP:0002157	Azotemia	0	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0002157	HP:0002157	Azotemia	0	OTC CL E G H	5009	8512	ORPHA:664	Ornithine transcarbamylase deficiency		369
HP:0002157	HP:0002157	Azotemia	0	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to		369
HP:0002157	HP:0002157	Azotemia	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome		39
HP:0002157	HP:0002157	Azotemia	0	PCCA CL E G H	5095	8653	ORPHA:35	Propionic acidemia		96
HP:0002157	HP:0002157	Azotemia	0	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia		96
HP:0002157	HP:0002157	Azotemia	0	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia		92
HP:0002157	HP:0002157	Azotemia	0	PCCB CL E G H	5096	8654	ORPHA:35	Propionic acidemia		92
HP:0002157	HP:0002157	Azotemia	0	PDHB CL E G H	5162	8808	OMIM:614111	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD		37
HP:0002157	HP:0002157	Azotemia	0	PFKM CL E G H	5213	8877	ORPHA:371	Glycogen storage disease due to muscle phosphofructokinase deficiency		64
HP:0002157	HP:0002157	Azotemia	0	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII		64
HP:0002157	HP:0002157	Azotemia	0	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa		54
HP:0002157	HP:0002157	Azotemia	0	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb		101
HP:0002157	HP:0002157	Azotemia	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria		46
HP:0002157	HP:0002157	Azotemia	0	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease		342
HP:0002157	HP:0002157	Azotemia	0	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease		106
HP:0002157	HP:0002157	Azotemia	0	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2		106
HP:0002157	HP:0002157	Azotemia	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0002157	HP:0002157	Azotemia	0	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency		52
HP:0002157	HP:0002157	Azotemia	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3		42
HP:0002157	HP:0002157	Azotemia	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy		42
HP:0002157	HP:0002157	Azotemia	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy		49
HP:0002157	HP:0002157	Azotemia	0	PRPS1 CL E G H	5631	9462	ORPHA:411536	Mild phosphoribosylpyrophosphate synthetase superactivity		49
HP:0002157	HP:0002157	Azotemia	0	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0002157	HP:0002157	Azotemia	0	PRPS1 CL E G H	5631	9462	ORPHA:411543	Severe phosphoribosylpyrophosphate synthetase superactivity		49
HP:0002157	HP:0002157	Azotemia	0	PYGM CL E G H	5837	9726	OMIM:232600	Glycogen storage disease V		166
HP:0002157	HP:0002157	Azotemia	0	REN CL E G H	5972	9958	OMIM:613092	Hyperuricemic nephropathy, familial juvenile, 2		25
HP:0002157	HP:0002157	Azotemia	0	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3		99
HP:0002157	HP:0002157	Azotemia	0	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome		60
HP:0002157	HP:0002157	Azotemia	0	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5		2
HP:0002157	HP:0002157	Azotemia	0	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome		47
HP:0002157	HP:0002157	Azotemia	0	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0002157	HP:0002157	Azotemia	0	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia		56
HP:0002157	HP:0002157	Azotemia	0	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1		56
HP:0002157	HP:0002157	Azotemia	0	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary		207
HP:0002157	HP:0002157	Azotemia	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II		82
HP:0002157	HP:0002157	Azotemia	0	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset		82
HP:0002157	HP:0002157	Azotemia	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0002157	HP:0002157	Azotemia	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome		88
HP:0002157	HP:0002157	Azotemia	0	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome		88
HP:0002157	HP:0002157	Azotemia	0	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency		40
HP:0002157	HP:0002157	Azotemia	0	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency		40
HP:0002157	HP:0002157	Azotemia	0	SLC25A42 CL E G H	284439	28380	OMIM:618416	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression		1
HP:0002157	HP:0002157	Azotemia	0	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome		71
HP:0002157	HP:0002157	Azotemia	0	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia		57
HP:0002157	HP:0002157	Azotemia	0	SLC2A9 CL E G H	56606	13446	OMIM:612076	Hypouricemia, renal, 2		57
HP:0002157	HP:0002157	Azotemia	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome		47
HP:0002157	HP:0002157	Azotemia	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0002157	HP:0002157	Azotemia	0	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib		110
HP:0002157	HP:0002157	Azotemia	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0002157	HP:0002157	Azotemia	0	SLC41A1 CL E G H	254428	19429	OMIM:619468	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0002157	HP:0002157	Azotemia	0	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant		109
HP:0002157	HP:0002157	Azotemia	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance		104
HP:0002157	HP:0002157	Azotemia	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0002157	HP:0002157	Azotemia	0	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia		2
HP:0002157	HP:0002157	Azotemia	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration		12
HP:0002157	HP:0002157	Azotemia	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome		12
HP:0002157	HP:0002157	Azotemia	0	THBD CL E G H	7056	11784	OMIM:612926	Hemolytic uremic syndrome, atypical, susceptibility to, 6		60
HP:0002157	HP:0002157	Azotemia	0	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0002157	HP:0002157	Azotemia	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0002157	HP:0002157	Azotemia	0	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy		63
HP:0002157	HP:0002157	Azotemia	0	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease		72
HP:0002157	HP:0002157	Azotemia	0	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease		44
HP:0002157	HP:0002157	Azotemia	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset		44
HP:0002157	HP:0002157	Azotemia	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations		56
HP:0002157	HP:0002157	Azotemia	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002157	HP:0002157	Azotemia	0	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4		55
HP:0002157	HP:0002157	Azotemia	0	UMOD CL E G H	7369	12559	OMIM:162000	Hyperuricemic nephropathy, familial juvenile, 1		66
HP:0002157	HP:0002157	Azotemia	0	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5		17
HP:0002157	HP:0002157	Azotemia	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly		95
HP:0002157	HP:0002157	Azotemia	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0002157	HP:0001987	Hyperammonemia	1	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040282 - Frequent	15
HP:0002157	HP:0001987	Hyperammonemia	1	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria	HP:0040283 - Occasional	15
HP:0002157	HP:0001987	Hyperammonemia	1	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040282 - Frequent	98
HP:0002157	HP:0001987	Hyperammonemia	1	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	197
HP:0002157	HP:0001987	Hyperammonemia	1	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare	200
HP:0002157	HP:0001987	Hyperammonemia	1	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0002157	HP:0001987	Hyperammonemia	1	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040282 - Frequent	91
HP:0002157	HP:0002149	Hyperuricemia	1	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040281 - Very frequent	91
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary	.	129
HP:0002157	HP:0003138	Increased blood urea nitrogen	1	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary	.	129
HP:0002157	HP:0002149	Hyperuricemia	1	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.	73
HP:0002157	HP:0002149	Hyperuricemia	1	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance	HP:0040283 - Occasional	73
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent	93
HP:0002157	HP:0002149	Hyperuricemia	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	404
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency		19
HP:0002157	HP:0001987	Hyperammonemia	1	ARG1 CL E G H	383	663	ORPHA:90	Argininemia	HP:0040282 - Frequent	31
HP:0002157	HP:0001987	Hyperammonemia	1	ARG1 CL E G H	383	663	OMIM:207800	Argininemia		31
HP:0002157	HP:0001987	Hyperammonemia	1	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.	81
HP:0002157	HP:0001987	Hyperammonemia	1	ASL CL E G H	435	746	ORPHA:23	Argininosuccinic aciduria	HP:0040282 - Frequent	81
HP:0002157	HP:0001987	Hyperammonemia	1	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic	.	119
HP:0002157	HP:0001987	Hyperammonemia	1	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5	.
HP:0002157	HP:0003537	Hypouricemia	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent	5
HP:0002157	HP:0001987	Hyperammonemia	1	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040282 - Frequent	223
HP:0002157	HP:0001987	Hyperammonemia	1	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset	.	223
HP:0002157	HP:0003138	Increased blood urea nitrogen	1	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5	.	92
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5	.	92
HP:0002157	HP:0001987	Hyperammonemia	1	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency	.	10
HP:0002157	HP:0001987	Hyperammonemia	1	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50	.	10
HP:0002157	HP:0001987	Hyperammonemia	1	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27		35
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2		247
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040282 - Frequent	1
HP:0002157	HP:0003138	Increased blood urea nitrogen	1	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2	.	39
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2	.	39
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	CFB CL E G H	629	1037	OMIM:612924	Hemolytic uremic syndrome, atypical, susceptibility to, 4	.	30
HP:0002157	HP:0003138	Increased blood urea nitrogen	1	CFB CL E G H	629	1037	OMIM:612924	Hemolytic uremic syndrome, atypical, susceptibility to, 4	.	30
HP:0002157	HP:0003138	Increased blood urea nitrogen	1	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.	86
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.	86
HP:0002157	HP:0003138	Increased blood urea nitrogen	1	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0002157	HP:0003138	Increased blood urea nitrogen	1	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3	.	57
HP:0002157	HP:0003138	Increased blood urea nitrogen	1	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3	.	57
HP:0002157	HP:0002149	Hyperuricemia	1	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.	58
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8		1
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia	HP:0040284 - Very rare	5
HP:0002157	HP:0001987	Hyperammonemia	1	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0002157	HP:0001987	Hyperammonemia	1	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to	.	124
HP:0002157	HP:0001987	Hyperammonemia	1	CPS1 CL E G H	1373	2323	ORPHA:147	Carbamoyl-phosphate synthetase 1 deficiency	HP:0040281 - Very frequent	124
HP:0002157	HP:0001987	Hyperammonemia	1	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency	.	99
HP:0002157	HP:0001987	Hyperammonemia	1	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040283 - Occasional	101
HP:0002157	HP:0001987	Hyperammonemia	1	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile	.	101
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0002157	HP:0001987	Hyperammonemia	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040283 - Occasional	178
HP:0002157	HP:0003537	Hypouricemia	1	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040283 - Occasional	178
HP:0002157	HP:0001987	Hyperammonemia	1	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6	.	12
HP:0002157	HP:0003138	Increased blood urea nitrogen	1	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040282 - Frequent	80
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040282 - Frequent	80
HP:0002157	HP:0003138	Increased blood urea nitrogen	1	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital		80
HP:0002157	HP:0001987	Hyperammonemia	1	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency	HP:0040283 - Occasional	89
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent
HP:0002157	HP:0003537	Hypouricemia	1	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	2
HP:0002157	HP:0001987	Hyperammonemia	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040283 - Occasional	65
HP:0002157	HP:0003138	Increased blood urea nitrogen	1	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.	133
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.	133
HP:0002157	HP:0003138	Increased blood urea nitrogen	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	158
HP:0002157	HP:0003138	Increased blood urea nitrogen	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	199
HP:0002157	HP:0003138	Increased blood urea nitrogen	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	55
HP:0002157	HP:0003138	Increased blood urea nitrogen	1	FAN1 CL E G H	22909	29170	OMIM:614817	Interstitial nephritis, karyomegalic	.	15
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	FAN1 CL E G H	22909	29170	OMIM:614817	Interstitial nephritis, karyomegalic	.	15
HP:0002157	HP:0002149	Hyperuricemia	1	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040282 - Frequent	64
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia	HP:0040284 - Very rare	11
HP:0002157	HP:0001987	Hyperammonemia	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0002157	HP:0002149	Hyperuricemia	1	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent	6
HP:0002157	HP:0003537	Hypouricemia	1	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	86
HP:0002157	HP:0001987	Hyperammonemia	1	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6		56
HP:0002157	HP:0001987	Hyperammonemia	1	GLUD1 CL E G H	2746	4335	ORPHA:35878	Hyperinsulinism-hyperammonemia syndrome		56
HP:0002157	HP:0001987	Hyperammonemia	1	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0002157	HP:0001987	Hyperammonemia	1	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0002157	HP:0003537	Hypouricemia	1	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C	.	18
HP:0002157	HP:0001987	Hyperammonemia	1	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	41
HP:0002157	HP:0001987	Hyperammonemia	1	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency		99
HP:0002157	HP:0001987	Hyperammonemia	1	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency		60
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040283 - Occasional	580
HP:0002157	HP:0001987	Hyperammonemia	1	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency	.	148
HP:0002157	HP:0001987	Hyperammonemia	1	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency	HP:0040282 - Frequent	148
HP:0002157	HP:0002149	Hyperuricemia	1	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040282 - Frequent	35
HP:0002157	HP:0001987	Hyperammonemia	1	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040281 - Very frequent	35
HP:0002157	HP:0001987	Hyperammonemia	1	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency	.	35
HP:0002157	HP:0002149	Hyperuricemia	1	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency	.	35
HP:0002157	HP:0002149	Hyperuricemia	1	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional	90
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0002157	HP:0002149	Hyperuricemia	1	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0002157	HP:0003537	Hypouricemia	1	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	.	138
HP:0002157	HP:0002149	Hyperuricemia	1	HPRT1 CL E G H	3251	5157	OMIM:300323	Gout, hprt-related	.	76
HP:0002157	HP:0002149	Hyperuricemia	1	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency	HP:0040282 - Frequent	76
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency	HP:0040283 - Occasional	76
HP:0002157	HP:0002149	Hyperuricemia	1	HPRT1 CL E G H	3251	5157	ORPHA:510	Lesch-Nyhan syndrome	HP:0040281 - Very frequent	76
HP:0002157	HP:0002149	Hyperuricemia	1	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome	.	76
HP:0002157	HP:0001987	Hyperammonemia	1	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional	19
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent	148
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2	.	106
HP:0002157	HP:0002149	Hyperuricemia	1	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040284 - Very rare	56
HP:0002157	HP:0001987	Hyperammonemia	1	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0002157	HP:0001987	Hyperammonemia	1	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency		81
HP:0002157	HP:0001987	Hyperammonemia	1	MCCC1 CL E G H	56922	6936	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency	HP:0040282 - Frequent	81
HP:0002157	HP:0001987	Hyperammonemia	1	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency		77
HP:0002157	HP:0001987	Hyperammonemia	1	MCCC2 CL E G H	64087	6937	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency	HP:0040282 - Frequent	77
HP:0002157	HP:0002149	Hyperuricemia	1	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040284 - Very rare	77
HP:0002157	HP:0001987	Hyperammonemia	1	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome	HP:0040283 - Occasional	950
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	MLIP CL E G H	90523	21355	OMIM:620138
HP:0002157	HP:0001987	Hyperammonemia	1	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.	113
HP:0002157	HP:0001987	Hyperammonemia	1	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.	127
HP:0002157	HP:0001987	Hyperammonemia	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional	101
HP:0002157	HP:0001987	Hyperammonemia	1	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	.
HP:0002157	HP:0001987	Hyperammonemia	1	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	HP:0040281 - Very frequent
HP:0002157	HP:0001987	Hyperammonemia	1	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0	HP:0040283 - Occasional
HP:0002157	HP:0003537	Hypouricemia	1	MOCOS CL E G H	55034	18234	OMIM:603592	Xanthinuria, type II	.	4
HP:0002157	HP:0003537	Hypouricemia	1	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.	96
HP:0002157	HP:0003537	Hypouricemia	1	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.	26
HP:0002157	HP:0001987	Hyperammonemia	1	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2	.	1
HP:0002157	HP:0002149	Hyperuricemia	1	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2	.	1
HP:0002157	HP:0002149	Hyperuricemia	1	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma	HP:0040282 - Frequent	11
HP:0002157	HP:0001987	Hyperammonemia	1	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040281 - Very frequent	36
HP:0002157	HP:0001987	Hyperammonemia	1	NAGS CL E G H	162417	17996	OMIM:237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	.	36
HP:0002157	HP:0001987	Hyperammonemia	1	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2		25
HP:0002157	HP:0001987	Hyperammonemia	1	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33	.	1
HP:0002157	HP:0003537	Hypouricemia	1	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	39
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1		85
HP:0002157	HP:0001987	Hyperammonemia	1	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0002157	HP:0001987	Hyperammonemia	1	OTC CL E G H	5009	8512	ORPHA:664	Ornithine transcarbamylase deficiency	HP:0040281 - Very frequent	369
HP:0002157	HP:0001987	Hyperammonemia	1	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to	.	369
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome		39
HP:0002157	HP:0001987	Hyperammonemia	1	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.	96
HP:0002157	HP:0001987	Hyperammonemia	1	PCCA CL E G H	5095	8653	ORPHA:35	Propionic acidemia	HP:0040281 - Very frequent	96
HP:0002157	HP:0001987	Hyperammonemia	1	PCCB CL E G H	5096	8654	ORPHA:35	Propionic acidemia	HP:0040281 - Very frequent	92
HP:0002157	HP:0001987	Hyperammonemia	1	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.	92
HP:0002157	HP:0001987	Hyperammonemia	1	PDHB CL E G H	5162	8808	OMIM:614111	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD		37
HP:0002157	HP:0002149	Hyperuricemia	1	PFKM CL E G H	5213	8877	ORPHA:371	Glycogen storage disease due to muscle phosphofructokinase deficiency	HP:0040282 - Frequent	64
HP:0002157	HP:0002149	Hyperuricemia	1	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII	.	64
HP:0002157	HP:0002149	Hyperuricemia	1	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa		54
HP:0002157	HP:0002149	Hyperuricemia	1	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb		101
HP:0002157	HP:0003138	Increased blood urea nitrogen	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040282 - Frequent	46
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent	342
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent	106
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2	.	106
HP:0002157	HP:0003537	Hypouricemia	1	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0002157	HP:0003537	Hypouricemia	1	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency	HP:0040282 - Frequent	52
HP:0002157	HP:0002149	Hyperuricemia	1	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.	42
HP:0002157	HP:0002149	Hyperuricemia	1	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional	42
HP:0002157	HP:0003537	Hypouricemia	1	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040282 - Frequent	49
HP:0002157	HP:0002149	Hyperuricemia	1	PRPS1 CL E G H	5631	9462	ORPHA:411536	Mild phosphoribosylpyrophosphate synthetase superactivity	HP:0040281 - Very frequent	49
HP:0002157	HP:0002149	Hyperuricemia	1	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0002157	HP:0002149	Hyperuricemia	1	PRPS1 CL E G H	5631	9462	ORPHA:411543	Severe phosphoribosylpyrophosphate synthetase superactivity	HP:0040281 - Very frequent	49
HP:0002157	HP:0002149	Hyperuricemia	1	PYGM CL E G H	5837	9726	OMIM:232600	Glycogen storage disease V		166
HP:0002157	HP:0002149	Hyperuricemia	1	REN CL E G H	5972	9958	OMIM:613092	Hyperuricemic nephropathy, familial juvenile, 2	.	25
HP:0002157	HP:0001987	Hyperammonemia	1	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3		99
HP:0002157	HP:0002149	Hyperuricemia	1	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	.	60
HP:0002157	HP:0002149	Hyperuricemia	1	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5	.	2
HP:0002157	HP:0001987	Hyperammonemia	1	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome	.	47
HP:0002157	HP:0002149	Hyperuricemia	1	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0002157	HP:0003537	Hypouricemia	1	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia	HP:0040280 - Obligate	56
HP:0002157	HP:0003138	Increased blood urea nitrogen	1	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia	HP:0040283 - Occasional	56
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1		56
HP:0002157	HP:0003537	Hypouricemia	1	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1	.	56
HP:0002157	HP:0001987	Hyperammonemia	1	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary	.	207
HP:0002157	HP:0001987	Hyperammonemia	1	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II		82
HP:0002157	HP:0001987	Hyperammonemia	1	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset	.	82
HP:0002157	HP:0001987	Hyperammonemia	1	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040282 - Frequent	82
HP:0002157	HP:0001987	Hyperammonemia	1	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.	88
HP:0002157	HP:0001987	Hyperammonemia	1	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040281 - Very frequent	88
HP:0002157	HP:0001987	Hyperammonemia	1	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040281 - Very frequent	40
HP:0002157	HP:0001987	Hyperammonemia	1	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency	.	40
HP:0002157	HP:0001987	Hyperammonemia	1	SLC25A42 CL E G H	284439	28380	OMIM:618416	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression	HP:0040284 - Very rare	1
HP:0002157	HP:0003537	Hypouricemia	1	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome	.	71
HP:0002157	HP:0003138	Increased blood urea nitrogen	1	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia	HP:0040283 - Occasional	57
HP:0002157	HP:0003537	Hypouricemia	1	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia	HP:0040280 - Obligate	57
HP:0002157	HP:0003537	Hypouricemia	1	SLC2A9 CL E G H	56606	13446	OMIM:612076	Hypouricemia, renal, 2		57
HP:0002157	HP:0003537	Hypouricemia	1	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	47
HP:0002157	HP:0002149	Hyperuricemia	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040281 - Very frequent	110
HP:0002157	HP:0002149	Hyperuricemia	1	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.	110
HP:0002157	HP:0002149	Hyperuricemia	1	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.	110
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	SLC41A1 CL E G H	254428	19429	OMIM:619468	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant		109
HP:0002157	HP:0001987	Hyperammonemia	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0002157	HP:0001987	Hyperammonemia	1	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.	104
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia	HP:0040284 - Very rare	2
HP:0002157	HP:0001987	Hyperammonemia	1	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration		12
HP:0002157	HP:0001987	Hyperammonemia	1	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040282 - Frequent	12
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	THBD CL E G H	7056	11784	OMIM:612926	Hemolytic uremic syndrome, atypical, susceptibility to, 6	.	60
HP:0002157	HP:0003138	Increased blood urea nitrogen	1	THBD CL E G H	7056	11784	OMIM:612926	Hemolytic uremic syndrome, atypical, susceptibility to, 6	.	60
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0002157	HP:0001987	Hyperammonemia	1	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.	63
HP:0002157	HP:0001987	Hyperammonemia	1	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040281 - Very frequent	63
HP:0002157	HP:0002149	Hyperuricemia	1	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease	HP:0040281 - Very frequent	72
HP:0002157	HP:0002149	Hyperuricemia	1	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease	HP:0040281 - Very frequent	44
HP:0002157	HP:0002149	Hyperuricemia	1	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset	.	44
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040282 - Frequent	56
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002157	HP:0001987	Hyperammonemia	1	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4		55
HP:0002157	HP:0002149	Hyperuricemia	1	UMOD CL E G H	7369	12559	OMIM:162000	Hyperuricemic nephropathy, familial juvenile, 1	.	66
HP:0002157	HP:0001987	Hyperammonemia	1	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5		17
HP:0002157	HP:0003259	Elevated circulating creatinine concentration	1	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly	.	95
HP:0002157	HP:0008162	Asymptomatic hyperammonemia	2	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6	.	56
HP:0002157	HP:0008162	Asymptomatic hyperammonemia	2	GLUD1 CL E G H	2746	4335	ORPHA:35878	Hyperinsulinism-hyperammonemia syndrome	HP:0040281 - Very frequent	56
HP:0002157	HP:0008281	Acute hyperammonemia	2	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency	.	81
HP:0002157	HP:0008281	Acute hyperammonemia	2	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency	.	77
HP:0002157	HP:0008281	Acute hyperammonemia	2	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040283 - Occasional	36
HP:0002157	HP:0008281	Acute hyperammonemia	2	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040281 - Very frequent	82