Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | | | | 15 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | AASS CL E G H | 10157 | 17366 | ORPHA:3124 | Saccharopinuria | | | | 15 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | ACAD9 CL E G H | 28976 | 21497 | ORPHA:99901 | Acyl-CoA dehydrogenase 9 deficiency | | | | 98 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | ACADM CL E G H | 34 | 89 | ORPHA:42 | Medium chain acyl-CoA dehydrogenase deficiency | | | | 197 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | ACADVL CL E G H | 37 | 92 | ORPHA:26793 | Very long chain acyl-CoA dehydrogenase deficiency | | | | 200 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | ACADVL CL E G H | 37 | 92 | OMIM:201475 | Very long-chain acyl-CoA dehydrogenase deficiency | | | | 200 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | ACAT1 CL E G H | 38 | 93 | ORPHA:134 | Beta-ketothiolase deficiency | | | | 91 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | ADAMTS13 CL E G H | 11093 | 1366 | OMIM:274150 | Thrombotic thrombocytopenic purpura, hereditary | | | | 129 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | ALDOB CL E G H | 229 | 417 | OMIM:229600 | Fructose intolerance, hereditary | | | | 73 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | ALDOB CL E G H | 229 | 417 | ORPHA:469 | Hereditary fructose intolerance | | | | 73 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | ALG5 CL E G H | 29880 | 20266 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | ALG8 CL E G H | 79053 | 23161 | OMIM:608104 | Congenital disorder of glycosylation, type Ih | | | | 46 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | 93 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | | | | 404 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | APRT CL E G H | 353 | 626 | OMIM:614723 | Adenine phosphoribosyltransferase deficiency | | | | 19 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | ARG1 CL E G H | 383 | 663 | ORPHA:90 | Argininemia | | | | 31 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | ARG1 CL E G H | 383 | 663 | OMIM:207800 | Argininemia | | | | 31 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | ASL CL E G H | 435 | 746 | ORPHA:23 | Argininosuccinic aciduria | | | | 81 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | ASL CL E G H | 435 | 746 | OMIM:207900 | Argininosuccinic aciduria | | | | 81 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | ASS1 CL E G H | 445 | 758 | OMIM:215700 | Citrullinemia, classic | | | | 119 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | ATP5F1D CL E G H | 513 | 837 | OMIM:618120 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 5 | | | | | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | AVPR2 CL E G H | 554 | 897 | OMIM:300539 | Nephrogenic syndrome of inappropriate antidiuresis | | | | 67 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | BICC1 CL E G H | 80114 | 19351 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | 5 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | BTD CL E G H | 686 | 1122 | ORPHA:79241 | Biotinidase deficiency | | | | 223 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | BTD CL E G H | 686 | 1122 | OMIM:253260 | Biotinidase deficiencymultiple carboxylase deficiency, late-onset | | | | 223 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | C3 CL E G H | 718 | 1318 | OMIM:612925 | Hemolytic uremic syndrome, atypical, susceptibility to, 5 | | | | 92 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | CA5A CL E G H | 763 | 1377 | OMIM:615751 | Hyperammonemia due to carbonic anhydrase VA deficiency | | | | 10 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | CAD CL E G H | 790 | 1424 | OMIM:616457 | Epileptic encephalopathy, early infantile, 50 | | | | 10 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | CARS2 CL E G H | 79587 | 25695 | OMIM:616672 | Combined oxidative phosphorylation deficiency 27 | | | | 35 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:619111 | COACH SYNDROME 2; COACH2 | | | | 247 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:29073 | Multiple myeloma | | | | 1 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | CD46 CL E G H | 4179 | 6953 | OMIM:612922 | Hemolytic uremic syndrome, atypical, susceptibility to, 2 | | | | 39 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | CFB CL E G H | 629 | 1037 | OMIM:612924 | Hemolytic uremic syndrome, atypical, susceptibility to, 4 | | | | 30 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | CFH CL E G H | 3075 | 4883 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | | | | 86 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | CFHR1 CL E G H | 3078 | 4888 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | | | | | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | CFHR3 CL E G H | 10878 | 16980 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | | | | | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | CFI CL E G H | 3426 | 5394 | OMIM:612923 | Hemolytic uremic syndrome, atypical, susceptibility to, 3 | | | | 57 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | CLDN16 CL E G H | 10686 | 2037 | OMIM:248250 | Hypomagnesemia 3, renal | | | | 58 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | COL4A3 CL E G H | 1285 | 2204 | OMIM:104200 | Alport syndrome, autosomal dominant | | | | 161 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | COQ7 CL E G H | 10229 | 2244 | OMIM:616733 | Coenzyme Q10 deficiency, primary, 8 | | | | 1 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | CORIN CL E G H | 10699 | 19012 | ORPHA:275555 | Preeclampsia | | | | 5 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | COX6B1 CL E G H | 1340 | 2280 | OMIM:619051 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7 | | | | 10 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | CPS1 CL E G H | 1373 | 2323 | OMIM:237300 | Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to | | | | 124 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | CPS1 CL E G H | 1373 | 2323 | ORPHA:147 | Carbamoyl-phosphate synthetase 1 deficiency | | | | 124 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | CPT1A CL E G H | 1374 | 2328 | OMIM:255120 | Carnitine palmitoyltransferase I deficiency | | | | 99 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | | | | 101 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:600649 | Carnitine palmitoyltransferase II deficiency, infantile | | | | 101 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | | | | 101 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | | | | 178 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | CYC1 CL E G H | 1537 | 2579 | OMIM:615453 | Mitochondrial complex III deficiency, nuclear type 6 | | | | 12 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | DBH CL E G H | 1621 | 2689 | ORPHA:230 | Dopamine beta-hydroxylase deficiency | | | | 80 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | DBH CL E G H | 1621 | 2689 | OMIM:223360 | Dopamine beta-hydroxylase deficiency, congenital | | | | 80 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | DLD CL E G H | 1738 | 2898 | ORPHA:2394 | Pyruvate dehydrogenase E3 deficiency | | | | 89 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | DNAJB11 CL E G H | 51726 | 14889 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | DPYS CL E G H | 1807 | 3013 | OMIM:222748 | Dihydropyrimidinuria | | | | 44 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | EHHADH CL E G H | 1962 | 3247 | ORPHA:3337 | Primary Fanconi renotubular syndrome | | | | 2 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | | | | 65 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | ELP1 CL E G H | 8518 | 5959 | OMIM:223900 | Neuropathy, hereditary sensory and autonomic, type III | | | | 133 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 158 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 199 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 55 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | FAN1 CL E G H | 22909 | 29170 | OMIM:614817 | Interstitial nephritis, karyomegalic | | | | 15 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | FBP1 CL E G H | 2203 | 3606 | ORPHA:348 | Fructose-1,6-bisphosphatase deficiency | | | | 64 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | FLT1 CL E G H | 2321 | 3763 | ORPHA:275555 | Preeclampsia | | | | 11 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | G6PC1 CL E G H | 2538 | 4056 | OMIM:232200 | Glycogen storage disease ia | | | | | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | GAMT CL E G H | 2593 | 4136 | OMIM:612736 | Cerebral creatine deficiency syndrome 2 | | | | 91 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | GANAB CL E G H | 23193 | 4138 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | 6 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | GATM CL E G H | 2628 | 4175 | ORPHA:3337 | Primary Fanconi renotubular syndrome | | | | 86 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | GLUD1 CL E G H | 2746 | 4335 | OMIM:606762 | Hyperinsulinemic hypoglycemia, familial, 6 | | | | 56 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | GLUD1 CL E G H | 2746 | 4335 | ORPHA:35878 | Hyperinsulinism-hyperammonemia syndrome | | | | 56 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | GLUL CL E G H | 2752 | 4341 | OMIM:610015 | GLUTAMINE DEFICIENCY, CONGENITAL | | | | 98 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | GOT2 CL E G H | 2806 | 4433 | OMIM:618721 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82 | | | | | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | GPHN CL E G H | 10243 | 15465 | OMIM:615501 | Molybdenum cofactor deficiency, complementation group C | | | | 18 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | | | | 41 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | HADHA CL E G H | 3030 | 4801 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | | | | 99 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | HADHB CL E G H | 3032 | 4803 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | | | | 60 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:232 | Sickle cell anemia | | | | 580 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | HLCS CL E G H | 3141 | 4976 | OMIM:253270 | Holocarboxylase synthetase deficiency | | | | 148 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | HLCS CL E G H | 3141 | 4976 | ORPHA:79242 | Holocarboxylase synthetase deficiency | | | | 148 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | | | | 35 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | HMGCL CL E G H | 3155 | 5005 | OMIM:246450 | 3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency | | | | 35 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | HNF1B CL E G H | 6928 | 11630 | ORPHA:93111 | HNF1B-related autosomal dominant tubulointerstitial kidney disease | | | | 90 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | HNF1B CL E G H | 6928 | 11630 | OMIM:137920 | Renal cysts and diabetes syndrome | | | | 90 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | HNF4A CL E G H | 3172 | 5024 | OMIM:616026 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | | | | 138 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | HPRT1 CL E G H | 3251 | 5157 | OMIM:300323 | Gout, hprt-related | | | | 76 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | HPRT1 CL E G H | 3251 | 5157 | ORPHA:79233 | Hypoxanthine guanine phosphoribosyltransferase partial deficiency | | | | 76 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | HPRT1 CL E G H | 3251 | 5157 | OMIM:300322 | Lesch-Nyhan syndrome | | | | 76 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | HPRT1 CL E G H | 3251 | 5157 | ORPHA:510 | Lesch-Nyhan syndrome | | | | 76 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | HSD17B10 CL E G H | 3028 | 4800 | ORPHA:391428 | HSD10 disease, infantile type | | | | 19 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | 148 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | INVS CL E G H | 27130 | 17870 | OMIM:602088 | Nephronophthisis 2 | | | | 106 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | LMAN1 CL E G H | 3998 | 6631 | ORPHA:35909 | Combined deficiency of factor V and factor VIII | | | | 56 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | MARS1 CL E G H | 4141 | 6898 | OMIM:615486 | Interstitial lung and liver disease | | | | | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | MCCC1 CL E G H | 56922 | 6936 | OMIM:210200 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | | | | 81 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | MCCC1 CL E G H | 56922 | 6936 | ORPHA:6 | 3-methylcrotonyl-CoA carboxylase deficiency | | | | 81 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | MCCC2 CL E G H | 64087 | 6937 | OMIM:210210 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | | | | 77 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | MCCC2 CL E G H | 64087 | 6937 | ORPHA:6 | 3-methylcrotonyl-CoA carboxylase deficiency | | | | 77 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | MCFD2 CL E G H | 90411 | 18451 | ORPHA:35909 | Combined deficiency of factor V and factor VIII | | | | 77 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:778 | Rett syndrome | | | | 950 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | MLIP CL E G H | 90523 | 21355 | OMIM:620138 | | | | | | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | MMAA CL E G H | 166785 | 18871 | OMIM:251100 | Methylmalonic aciduria, Cbla type | | | | 113 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | MMAB CL E G H | 326625 | 19331 | OMIM:251110 | Methylmalonic aciduria, Cblb type | | | | 127 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | | | | 101 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | MMUT CL E G H | 4594 | 7526 | OMIM:251000 | Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency | | | | | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | MMUT CL E G H | 4594 | 7526 | ORPHA:79312 | Vitamin B12-unresponsive methylmalonic acidemia type mut- | | | | | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | MMUT CL E G H | 4594 | 7526 | ORPHA:289916 | Vitamin B12-unresponsive methylmalonic acidemia type mut0 | | | | | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | MOCOS CL E G H | 55034 | 18234 | OMIM:603592 | Xanthinuria, type II | | | | 4 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | MOCS1 CL E G H | 4337 | 7190 | OMIM:252150 | Molybdenum cofactor deficiency, complementation group A | | | | 96 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | MOCS2 CL E G H | 4338 | 7193 | OMIM:252160 | Molybdenum cofactor deficiency, complementation group B | | | | 26 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | MRM2 CL E G H | 29960 | 16352 | OMIM:618567 | MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17 | | | | | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | MUC1 CL E G H | 4582 | 7508 | OMIM:174000 | Tubulointerstitial kidney disease, autosomal dominant, 2 | | | | 1 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | MYC CL E G H | 4609 | 7553 | ORPHA:543 | Burkitt lymphoma | | | | 11 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | NAGS CL E G H | 162417 | 17996 | ORPHA:927 | Hyperammonemia due to N-acetylglutamate synthase deficiency | | | | 36 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | NAGS CL E G H | 162417 | 17996 | OMIM:237310 | N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY | | | | 36 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | NBAS CL E G H | 51594 | 15625 | OMIM:616483 | INFANTILE LIVER FAILURE SYNDROME 2; ILFS2 | | | | 25 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | NDUFA6 CL E G H | 4700 | 7690 | OMIM:618253 | Mitochondrial complex I deficiency, nuclear type 33 | | | | 1 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:3337 | Primary Fanconi renotubular syndrome | | | | 39 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | NFE2L2 CL E G H | 4780 | 7782 | OMIM:617744 | Immunodeficiency, developmental delay, and hypohomocysteinemia | | | | 20 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | NPHP1 CL E G H | 4867 | 7905 | OMIM:266900 | Senior-Loken syndrome 1 | | | | 85 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | NR1H4 CL E G H | 9971 | 7967 | OMIM:617049 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5 | | | | 14 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | NT5E CL E G H | 4907 | 8021 | ORPHA:289601 | Hereditary arterial and articular multiple calcification syndrome | | | | 3 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | | | | 88 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | OTC CL E G H | 5009 | 8512 | ORPHA:664 | Ornithine transcarbamylase deficiency | | | | 369 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | OTC CL E G H | 5009 | 8512 | OMIM:311250 | Ornithine transcarbamylase deficiency, hyperammonemia due to | | | | 369 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | PAX2 CL E G H | 5076 | 8616 | OMIM:120330 | Papillorenal syndrome | | | | 39 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | PCBD1 CL E G H | 5092 | 8646 | ORPHA:1578 | Pterin-4 alpha-carbinolamine dehydratase deficiency | | | | 24 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | PCCA CL E G H | 5095 | 8653 | ORPHA:35 | Propionic acidemia | | | | 96 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | PCCA CL E G H | 5095 | 8653 | OMIM:606054 | Propionic acidemia | | | | 96 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | PCCB CL E G H | 5096 | 8654 | ORPHA:35 | Propionic acidemia | | | | 92 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | PCCB CL E G H | 5096 | 8654 | OMIM:606054 | Propionic acidemia | | | | 92 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | PDHB CL E G H | 5162 | 8808 | OMIM:614111 | PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD | | | | 37 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | PFKM CL E G H | 5213 | 8877 | ORPHA:371 | Glycogen storage disease due to muscle phosphofructokinase deficiency | | | | 64 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | PFKM CL E G H | 5213 | 8877 | OMIM:232800 | Glycogen storage disease VII | | | | 64 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | PHKA2 CL E G H | 5256 | 8926 | OMIM:306000 | Glycogen storage disease ixa | | | | 54 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | PHKB CL E G H | 5257 | 8927 | OMIM:261750 | Glycogen storage disease ixb | | | | 101 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | | | | 46 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | PKD1 CL E G H | 5310 | 9008 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | 342 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | PKD2 CL E G H | 5311 | 9009 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | 106 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | PKD2 CL E G H | 5311 | 9009 | OMIM:613095 | Polycystic kidney disease 2 | | | | 106 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | PNP CL E G H | 4860 | 7892 | ORPHA:760 | Purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | POLG CL E G H | 5428 | 9179 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | | | | 464 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | PPARG CL E G H | 5468 | 9236 | OMIM:604367 | Lipodystrophy, familial partial, type 3 | | | | 42 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | PPARG CL E G H | 5468 | 9236 | ORPHA:79083 | PPARG-related familial partial lipodystrophy | | | | 42 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:1187 | Lethal ataxia with deafness and optic atrophy | | | | 49 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:411536 | Mild phosphoribosylpyrophosphate synthetase superactivity | | | | 49 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | PRPS1 CL E G H | 5631 | 9462 | OMIM:300661 | Phosphoribosylpyrophosphate synthetase superactivity | | | | 49 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:411543 | Severe phosphoribosylpyrophosphate synthetase superactivity | | | | 49 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | PYGM CL E G H | 5837 | 9726 | OMIM:232600 | Glycogen storage disease V | | | | 166 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | REN CL E G H | 5972 | 9958 | OMIM:613092 | Hyperuricemic nephropathy, familial juvenile, 2 | | | | 25 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | RINT1 CL E G H | 60561 | 21876 | OMIM:618641 | INFANTILE LIVER FAILURE SYNDROME 3; ILFS3 | | | | 99 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | SARS2 CL E G H | 54938 | 17697 | OMIM:613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome | | | | 60 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | SEC61A1 CL E G H | 29927 | 18276 | OMIM:617056 | Tubulointerstitial kidney disease, autosomal dominant, 5 | | | | 2 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | SERAC1 CL E G H | 84947 | 21061 | OMIM:614739 | 3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome | | | | 47 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261222 | Distal 16p11.2 microdeletion syndrome | | | | | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | SLC22A12 CL E G H | 116085 | 17989 | ORPHA:94088 | Hereditary renal hypouricemia | | | | 56 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | SLC22A12 CL E G H | 116085 | 17989 | OMIM:220150 | Hypouricemia, renal, 1 | | | | 56 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | SLC22A5 CL E G H | 6584 | 10969 | OMIM:212140 | Carnitine deficiency, systemic primary | | | | 207 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247585 | Citrullinemia type II | | | | 82 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | SLC25A13 CL E G H | 10165 | 10983 | OMIM:603471 | Citrullinemia, type II, adult-onset | | | | 82 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247598 | Neonatal intrahepatic cholestasis due to citrin deficiency | | | | 82 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | SLC25A15 CL E G H | 10166 | 10985 | OMIM:238970 | Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome | | | | 88 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | SLC25A15 CL E G H | 10166 | 10985 | ORPHA:415 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | | | | 88 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | SLC25A20 CL E G H | 788 | 1421 | OMIM:212138 | Carnitine-acylcarnitine translocase deficiency | | | | 40 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | SLC25A20 CL E G H | 788 | 1421 | ORPHA:159 | Carnitine-acylcarnitine translocase deficiency | | | | 40 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | SLC25A42 CL E G H | 284439 | 28380 | OMIM:618416 | Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression | | | | 1 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | SLC2A2 CL E G H | 6514 | 11006 | OMIM:227810 | Fanconi-Bickel syndrome | | | | 71 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | SLC2A9 CL E G H | 56606 | 13446 | ORPHA:94088 | Hereditary renal hypouricemia | | | | 57 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | SLC2A9 CL E G H | 56606 | 13446 | OMIM:612076 | Hypouricemia, renal, 2 | | | | 57 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | SLC34A1 CL E G H | 6569 | 11019 | ORPHA:3337 | Primary Fanconi renotubular syndrome | | | | 47 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | | | | 110 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232220 | Glycogen storage disease ib | | | | 110 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232240 | GLYCOGEN STORAGE DISEASE Ic | | | | 110 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | SLC41A1 CL E G H | 254428 | 19429 | OMIM:619468 | NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2 | | | | | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:179800 | Renal tubular acidosis, distal, autosomal dominant | | | | 109 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | SLC7A7 CL E G H | 9056 | 11065 | OMIM:222700 | Lysinuric protein intolerance | | | | 104 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | | | | 104 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | STOX1 CL E G H | 219736 | 23508 | ORPHA:275555 | Preeclampsia | | | | 2 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | TANGO2 CL E G H | 128989 | 25439 | OMIM:616878 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | | | | 12 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | TANGO2 CL E G H | 128989 | 25439 | ORPHA:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | | | | 12 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | THBD CL E G H | 7056 | 11784 | OMIM:612926 | Hemolytic uremic syndrome, atypical, susceptibility to, 6 | | | | 60 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | TMEM260 CL E G H | 54916 | 20185 | OMIM:617478 | Structural heart defects and renal anomalies syndrome | | | | 2 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | TMEM70 CL E G H | 54968 | 26050 | OMIM:614052 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 2 | | | | 63 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | TMEM70 CL E G H | 54968 | 26050 | ORPHA:1194 | TMEM70-related mitochondrial encephalo-cardio-myopathy | | | | 63 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | TNFRSF11A CL E G H | 8792 | 11908 | ORPHA:2801 | Juvenile Paget disease | | | | 72 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | TNFRSF11B CL E G H | 4982 | 11909 | ORPHA:2801 | Juvenile Paget disease | | | | 44 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | TNFRSF11B CL E G H | 4982 | 11909 | OMIM:239000 | Paget disease of bone 5, juvenile-onset | | | | 44 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:247691 | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | | | | 56 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | TUFM CL E G H | 7284 | 12420 | OMIM:610678 | Combined oxidative phosphorylation deficiency 4 | | | | 55 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | TYMP CL E G H | 1890 | 3148 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | | | | 138 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | UMOD CL E G H | 7369 | 12559 | OMIM:162000 | Hyperuricemic nephropathy, familial juvenile, 1 | | | | 66 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | UQCRC2 CL E G H | 7385 | 12586 | OMIM:615160 | Mitochondrial complex III deficiency, nuclear type 5 | | | | 17 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614376 | Short-Rib thoracic dysplasia 5 with or without polydactyly | | | | 95 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | XDH CL E G H | 7498 | 12805 | OMIM:278300 | Xanthinuria, type I | | | | 79 | | |
HP:0004364 | HP:0004364 | Abnormal circulating nitrogen compound concentration | 0 | ZPR1 CL E G H | 8882 | 13051 | OMIM:619321 | GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF | | | | | | |
HP:0004364 | HP:0410205 | Abnormal circulating nicotinurate concentration | 1 | CL E G H | | | | | | | | | | |
HP:0004364 | HP:0410052 | Increased level of allantoin in serum | 1 | CL E G H | | | | | | | | | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | | | | 15 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | AASS CL E G H | 10157 | 17366 | ORPHA:3124 | Saccharopinuria | | | | 15 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | ACAD9 CL E G H | 28976 | 21497 | ORPHA:99901 | Acyl-CoA dehydrogenase 9 deficiency | | | | 98 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | ACADM CL E G H | 34 | 89 | ORPHA:42 | Medium chain acyl-CoA dehydrogenase deficiency | | | | 197 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | ACADVL CL E G H | 37 | 92 | ORPHA:26793 | Very long chain acyl-CoA dehydrogenase deficiency | | | | 200 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | ACADVL CL E G H | 37 | 92 | OMIM:201475 | Very long-chain acyl-CoA dehydrogenase deficiency | | | | 200 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | ACAT1 CL E G H | 38 | 93 | ORPHA:134 | Beta-ketothiolase deficiency | | | | 91 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | ACAT1 CL E G H | 38 | 93 | ORPHA:134 | Beta-ketothiolase deficiency | | | | 91 | | |
HP:0004364 | HP:0031970 | Abnormal blood urea nitrogen concentration | 1 | ADAMTS13 CL E G H | 11093 | 1366 | OMIM:274150 | Thrombotic thrombocytopenic purpura, hereditary | | | | 129 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | ADAMTS13 CL E G H | 11093 | 1366 | OMIM:274150 | Thrombotic thrombocytopenic purpura, hereditary | | | | 129 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | ADAMTS13 CL E G H | 11093 | 1366 | OMIM:274150 | Thrombotic thrombocytopenic purpura, hereditary | | | | 129 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | ALDOB CL E G H | 229 | 417 | OMIM:229600 | Fructose intolerance, hereditary | | | | 73 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | ALDOB CL E G H | 229 | 417 | OMIM:229600 | Fructose intolerance, hereditary | | | | 73 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | ALDOB CL E G H | 229 | 417 | ORPHA:469 | Hereditary fructose intolerance | | | | 73 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | ALDOB CL E G H | 229 | 417 | ORPHA:469 | Hereditary fructose intolerance | | | | 73 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | ALG5 CL E G H | 29880 | 20266 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | ALG5 CL E G H | 29880 | 20266 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | ALG8 CL E G H | 79053 | 23161 | OMIM:608104 | Congenital disorder of glycosylation, type Ih | | | | 46 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | ALG8 CL E G H | 79053 | 23161 | OMIM:608104 | Congenital disorder of glycosylation, type Ih | | | | 46 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | ALG9 CL E G H | 79796 | 15672 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | 93 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | ALG9 CL E G H | 79796 | 15672 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | 93 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | | | | 404 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | | | | 404 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | APRT CL E G H | 353 | 626 | OMIM:614723 | Adenine phosphoribosyltransferase deficiency | | | | 19 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | APRT CL E G H | 353 | 626 | OMIM:614723 | Adenine phosphoribosyltransferase deficiency | | | | 19 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | ARG1 CL E G H | 383 | 663 | OMIM:207800 | Argininemia | | | | 31 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | ARG1 CL E G H | 383 | 663 | ORPHA:90 | Argininemia | | | | 31 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | ASL CL E G H | 435 | 746 | OMIM:207900 | Argininosuccinic aciduria | | | | 81 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | ASL CL E G H | 435 | 746 | ORPHA:23 | Argininosuccinic aciduria | | | | 81 | | |
HP:0004364 | HP:0001951 | Episodic ammonia intoxication | 1 | ASL CL E G H | 435 | 746 | OMIM:207900 | Argininosuccinic aciduria | . | | | 81 | | |
HP:0004364 | HP:0001951 | Episodic ammonia intoxication | 1 | ASS1 CL E G H | 445 | 758 | OMIM:215700 | Citrullinemia, classic | . | | | 119 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | ASS1 CL E G H | 445 | 758 | OMIM:215700 | Citrullinemia, classic | | | | 119 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | ATP5F1D CL E G H | 513 | 837 | OMIM:618120 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 5 | | | | | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | AVPR2 CL E G H | 554 | 897 | OMIM:300539 | Nephrogenic syndrome of inappropriate antidiuresis | | | | 67 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | BICC1 CL E G H | 80114 | 19351 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | 5 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | BICC1 CL E G H | 80114 | 19351 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | 5 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | BTD CL E G H | 686 | 1122 | ORPHA:79241 | Biotinidase deficiency | | | | 223 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | BTD CL E G H | 686 | 1122 | OMIM:253260 | Biotinidase deficiencymultiple carboxylase deficiency, late-onset | | | | 223 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | C3 CL E G H | 718 | 1318 | OMIM:612925 | Hemolytic uremic syndrome, atypical, susceptibility to, 5 | | | | 92 | | |
HP:0004364 | HP:0031970 | Abnormal blood urea nitrogen concentration | 1 | C3 CL E G H | 718 | 1318 | OMIM:612925 | Hemolytic uremic syndrome, atypical, susceptibility to, 5 | | | | 92 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | C3 CL E G H | 718 | 1318 | OMIM:612925 | Hemolytic uremic syndrome, atypical, susceptibility to, 5 | | | | 92 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | CA5A CL E G H | 763 | 1377 | OMIM:615751 | Hyperammonemia due to carbonic anhydrase VA deficiency | | | | 10 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | CAD CL E G H | 790 | 1424 | OMIM:616457 | Epileptic encephalopathy, early infantile, 50 | | | | 10 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | CARS2 CL E G H | 79587 | 25695 | OMIM:616672 | Combined oxidative phosphorylation deficiency 27 | | | | 35 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | CC2D2A CL E G H | 57545 | 29253 | OMIM:619111 | COACH SYNDROME 2; COACH2 | | | | 247 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | CC2D2A CL E G H | 57545 | 29253 | OMIM:619111 | COACH SYNDROME 2; COACH2 | | | | 247 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | CCND1 CL E G H | 595 | 1582 | ORPHA:29073 | Multiple myeloma | | | | 1 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | CCND1 CL E G H | 595 | 1582 | ORPHA:29073 | Multiple myeloma | | | | 1 | | |
HP:0004364 | HP:0031970 | Abnormal blood urea nitrogen concentration | 1 | CD46 CL E G H | 4179 | 6953 | OMIM:612922 | Hemolytic uremic syndrome, atypical, susceptibility to, 2 | | | | 39 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | CD46 CL E G H | 4179 | 6953 | OMIM:612922 | Hemolytic uremic syndrome, atypical, susceptibility to, 2 | | | | 39 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | CD46 CL E G H | 4179 | 6953 | OMIM:612922 | Hemolytic uremic syndrome, atypical, susceptibility to, 2 | | | | 39 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | CFB CL E G H | 629 | 1037 | OMIM:612924 | Hemolytic uremic syndrome, atypical, susceptibility to, 4 | | | | 30 | | |
HP:0004364 | HP:0031970 | Abnormal blood urea nitrogen concentration | 1 | CFB CL E G H | 629 | 1037 | OMIM:612924 | Hemolytic uremic syndrome, atypical, susceptibility to, 4 | | | | 30 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | CFB CL E G H | 629 | 1037 | OMIM:612924 | Hemolytic uremic syndrome, atypical, susceptibility to, 4 | | | | 30 | | |
HP:0004364 | HP:0031970 | Abnormal blood urea nitrogen concentration | 1 | CFH CL E G H | 3075 | 4883 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | | | | 86 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | CFH CL E G H | 3075 | 4883 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | | | | 86 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | CFH CL E G H | 3075 | 4883 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | | | | 86 | | |
HP:0004364 | HP:0031970 | Abnormal blood urea nitrogen concentration | 1 | CFHR1 CL E G H | 3078 | 4888 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | | | | | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | CFHR1 CL E G H | 3078 | 4888 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | | | | | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | CFHR1 CL E G H | 3078 | 4888 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | | | | | | |
HP:0004364 | HP:0031970 | Abnormal blood urea nitrogen concentration | 1 | CFHR3 CL E G H | 10878 | 16980 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | | | | | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | CFHR3 CL E G H | 10878 | 16980 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | | | | | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | CFHR3 CL E G H | 10878 | 16980 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | | | | | | |
HP:0004364 | HP:0031970 | Abnormal blood urea nitrogen concentration | 1 | CFI CL E G H | 3426 | 5394 | OMIM:612923 | Hemolytic uremic syndrome, atypical, susceptibility to, 3 | | | | 57 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | CFI CL E G H | 3426 | 5394 | OMIM:612923 | Hemolytic uremic syndrome, atypical, susceptibility to, 3 | | | | 57 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | CFI CL E G H | 3426 | 5394 | OMIM:612923 | Hemolytic uremic syndrome, atypical, susceptibility to, 3 | | | | 57 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | CLDN16 CL E G H | 10686 | 2037 | OMIM:248250 | Hypomagnesemia 3, renal | | | | 58 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | CLDN16 CL E G H | 10686 | 2037 | OMIM:248250 | Hypomagnesemia 3, renal | | | | 58 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | COL4A3 CL E G H | 1285 | 2204 | OMIM:104200 | Alport syndrome, autosomal dominant | . | | | 161 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | COQ7 CL E G H | 10229 | 2244 | OMIM:616733 | Coenzyme Q10 deficiency, primary, 8 | | | | 1 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | COQ7 CL E G H | 10229 | 2244 | OMIM:616733 | Coenzyme Q10 deficiency, primary, 8 | | | | 1 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | CORIN CL E G H | 10699 | 19012 | ORPHA:275555 | Preeclampsia | | | | 5 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | CORIN CL E G H | 10699 | 19012 | ORPHA:275555 | Preeclampsia | | | | 5 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | COX6B1 CL E G H | 1340 | 2280 | OMIM:619051 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7 | | | | 10 | | |
HP:0004364 | HP:0001951 | Episodic ammonia intoxication | 1 | CPS1 CL E G H | 1373 | 2323 | OMIM:237300 | Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to | . | | | 124 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | CPS1 CL E G H | 1373 | 2323 | OMIM:237300 | Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to | | | | 124 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | CPS1 CL E G H | 1373 | 2323 | ORPHA:147 | Carbamoyl-phosphate synthetase 1 deficiency | | | | 124 | | |
HP:0004364 | HP:0001951 | Episodic ammonia intoxication | 1 | CPS1 CL E G H | 1373 | 2323 | ORPHA:147 | Carbamoyl-phosphate synthetase 1 deficiency | HP:0040281 - Very frequent | | | 124 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | CPT1A CL E G H | 1374 | 2328 | OMIM:255120 | Carnitine palmitoyltransferase I deficiency | | | | 99 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | | | | 101 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | CPT2 CL E G H | 1376 | 2330 | OMIM:600649 | Carnitine palmitoyltransferase II deficiency, infantile | | | | 101 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | | | | 101 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | | | | 101 | | |
HP:0004364 | HP:0031970 | Abnormal blood urea nitrogen concentration | 1 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | | | | 178 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | | | | 178 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | | | | 178 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | CYC1 CL E G H | 1537 | 2579 | OMIM:615453 | Mitochondrial complex III deficiency, nuclear type 6 | | | | 12 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | DBH CL E G H | 1621 | 2689 | ORPHA:230 | Dopamine beta-hydroxylase deficiency | | | | 80 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | DBH CL E G H | 1621 | 2689 | ORPHA:230 | Dopamine beta-hydroxylase deficiency | | | | 80 | | |
HP:0004364 | HP:0031970 | Abnormal blood urea nitrogen concentration | 1 | DBH CL E G H | 1621 | 2689 | ORPHA:230 | Dopamine beta-hydroxylase deficiency | | | | 80 | | |
HP:0004364 | HP:0031970 | Abnormal blood urea nitrogen concentration | 1 | DBH CL E G H | 1621 | 2689 | OMIM:223360 | Dopamine beta-hydroxylase deficiency, congenital | | | | 80 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | DBH CL E G H | 1621 | 2689 | OMIM:223360 | Dopamine beta-hydroxylase deficiency, congenital | | | | 80 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | DLD CL E G H | 1738 | 2898 | ORPHA:2394 | Pyruvate dehydrogenase E3 deficiency | | | | 89 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | DNAJB11 CL E G H | 51726 | 14889 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | DNAJB11 CL E G H | 51726 | 14889 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | DPYS CL E G H | 1807 | 3013 | OMIM:222748 | Dihydropyrimidinuria | | | | 44 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | EHHADH CL E G H | 1962 | 3247 | ORPHA:3337 | Primary Fanconi renotubular syndrome | | | | 2 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | EHHADH CL E G H | 1962 | 3247 | ORPHA:3337 | Primary Fanconi renotubular syndrome | | | | 2 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | | | | 65 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | ELP1 CL E G H | 8518 | 5959 | OMIM:223900 | Neuropathy, hereditary sensory and autonomic, type III | | | | 133 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | ELP1 CL E G H | 8518 | 5959 | OMIM:223900 | Neuropathy, hereditary sensory and autonomic, type III | | | | 133 | | |
HP:0004364 | HP:0031970 | Abnormal blood urea nitrogen concentration | 1 | ELP1 CL E G H | 8518 | 5959 | OMIM:223900 | Neuropathy, hereditary sensory and autonomic, type III | | | | 133 | | |
HP:0004364 | HP:0031970 | Abnormal blood urea nitrogen concentration | 1 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 158 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 158 | | |
HP:0004364 | HP:0031970 | Abnormal blood urea nitrogen concentration | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 199 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 199 | | |
HP:0004364 | HP:0031970 | Abnormal blood urea nitrogen concentration | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 55 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 55 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | FAN1 CL E G H | 22909 | 29170 | OMIM:614817 | Interstitial nephritis, karyomegalic | | | | 15 | | |
HP:0004364 | HP:0031970 | Abnormal blood urea nitrogen concentration | 1 | FAN1 CL E G H | 22909 | 29170 | OMIM:614817 | Interstitial nephritis, karyomegalic | | | | 15 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | FAN1 CL E G H | 22909 | 29170 | OMIM:614817 | Interstitial nephritis, karyomegalic | | | | 15 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | FBP1 CL E G H | 2203 | 3606 | ORPHA:348 | Fructose-1,6-bisphosphatase deficiency | | | | 64 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | FBP1 CL E G H | 2203 | 3606 | ORPHA:348 | Fructose-1,6-bisphosphatase deficiency | | | | 64 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | FLT1 CL E G H | 2321 | 3763 | ORPHA:275555 | Preeclampsia | | | | 11 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | FLT1 CL E G H | 2321 | 3763 | ORPHA:275555 | Preeclampsia | | | | 11 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | G6PC1 CL E G H | 2538 | 4056 | OMIM:232200 | Glycogen storage disease ia | | | | | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | G6PC1 CL E G H | 2538 | 4056 | OMIM:232200 | Glycogen storage disease ia | | | | | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | GAMT CL E G H | 2593 | 4136 | OMIM:612736 | Cerebral creatine deficiency syndrome 2 | | | | 91 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | GANAB CL E G H | 23193 | 4138 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | 6 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | GANAB CL E G H | 23193 | 4138 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | 6 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | GATM CL E G H | 2628 | 4175 | ORPHA:3337 | Primary Fanconi renotubular syndrome | | | | 86 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | GATM CL E G H | 2628 | 4175 | ORPHA:3337 | Primary Fanconi renotubular syndrome | | | | 86 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | GLUD1 CL E G H | 2746 | 4335 | OMIM:606762 | Hyperinsulinemic hypoglycemia, familial, 6 | | | | 56 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | GLUD1 CL E G H | 2746 | 4335 | ORPHA:35878 | Hyperinsulinism-hyperammonemia syndrome | | | | 56 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | GLUL CL E G H | 2752 | 4341 | OMIM:610015 | GLUTAMINE DEFICIENCY, CONGENITAL | | | | 98 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | GOT2 CL E G H | 2806 | 4433 | OMIM:618721 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82 | | | | | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | GPHN CL E G H | 10243 | 15465 | OMIM:615501 | Molybdenum cofactor deficiency, complementation group C | | | | 18 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | GPHN CL E G H | 10243 | 15465 | OMIM:615501 | Molybdenum cofactor deficiency, complementation group C | | | | 18 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | | | | 41 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | HADHA CL E G H | 3030 | 4801 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | | | | 99 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | HADHB CL E G H | 3032 | 4803 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | | | | 60 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:232 | Sickle cell anemia | | | | 580 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:232 | Sickle cell anemia | | | | 580 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | HLCS CL E G H | 3141 | 4976 | OMIM:253270 | Holocarboxylase synthetase deficiency | | | | 148 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | HLCS CL E G H | 3141 | 4976 | ORPHA:79242 | Holocarboxylase synthetase deficiency | | | | 148 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | | | | 35 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | | | | 35 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | HMGCL CL E G H | 3155 | 5005 | OMIM:246450 | 3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency | | | | 35 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | HMGCL CL E G H | 3155 | 5005 | OMIM:246450 | 3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency | | | | 35 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | HNF1B CL E G H | 6928 | 11630 | ORPHA:93111 | HNF1B-related autosomal dominant tubulointerstitial kidney disease | | | | 90 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | HNF1B CL E G H | 6928 | 11630 | ORPHA:93111 | HNF1B-related autosomal dominant tubulointerstitial kidney disease | | | | 90 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | HNF1B CL E G H | 6928 | 11630 | OMIM:137920 | Renal cysts and diabetes syndrome | | | | 90 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | HNF1B CL E G H | 6928 | 11630 | OMIM:137920 | Renal cysts and diabetes syndrome | | | | 90 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | HNF1B CL E G H | 6928 | 11630 | OMIM:137920 | Renal cysts and diabetes syndrome | | | | 90 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | HNF4A CL E G H | 3172 | 5024 | OMIM:616026 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | | | | 138 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | HNF4A CL E G H | 3172 | 5024 | OMIM:616026 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | | | | 138 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | HPRT1 CL E G H | 3251 | 5157 | OMIM:300323 | Gout, hprt-related | | | | 76 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | HPRT1 CL E G H | 3251 | 5157 | OMIM:300323 | Gout, hprt-related | | | | 76 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | HPRT1 CL E G H | 3251 | 5157 | ORPHA:79233 | Hypoxanthine guanine phosphoribosyltransferase partial deficiency | | | | 76 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | HPRT1 CL E G H | 3251 | 5157 | ORPHA:79233 | Hypoxanthine guanine phosphoribosyltransferase partial deficiency | | | | 76 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | HPRT1 CL E G H | 3251 | 5157 | ORPHA:79233 | Hypoxanthine guanine phosphoribosyltransferase partial deficiency | | | | 76 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | HPRT1 CL E G H | 3251 | 5157 | ORPHA:510 | Lesch-Nyhan syndrome | | | | 76 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | HPRT1 CL E G H | 3251 | 5157 | OMIM:300322 | Lesch-Nyhan syndrome | | | | 76 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | HPRT1 CL E G H | 3251 | 5157 | OMIM:300322 | Lesch-Nyhan syndrome | | | | 76 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | HPRT1 CL E G H | 3251 | 5157 | ORPHA:510 | Lesch-Nyhan syndrome | | | | 76 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | HSD17B10 CL E G H | 3028 | 4800 | ORPHA:391428 | HSD10 disease, infantile type | | | | 19 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | IFT140 CL E G H | 9742 | 29077 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | 148 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | IFT140 CL E G H | 9742 | 29077 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | 148 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | INVS CL E G H | 27130 | 17870 | OMIM:602088 | Nephronophthisis 2 | | | | 106 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | INVS CL E G H | 27130 | 17870 | OMIM:602088 | Nephronophthisis 2 | | | | 106 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | LMAN1 CL E G H | 3998 | 6631 | ORPHA:35909 | Combined deficiency of factor V and factor VIII | | | | 56 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | LMAN1 CL E G H | 3998 | 6631 | ORPHA:35909 | Combined deficiency of factor V and factor VIII | | | | 56 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | MARS1 CL E G H | 4141 | 6898 | OMIM:615486 | Interstitial lung and liver disease | | | | | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | MCCC1 CL E G H | 56922 | 6936 | OMIM:210200 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | | | | 81 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | MCCC1 CL E G H | 56922 | 6936 | ORPHA:6 | 3-methylcrotonyl-CoA carboxylase deficiency | | | | 81 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | MCCC2 CL E G H | 64087 | 6937 | OMIM:210210 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | | | | 77 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | MCCC2 CL E G H | 64087 | 6937 | ORPHA:6 | 3-methylcrotonyl-CoA carboxylase deficiency | | | | 77 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | MCFD2 CL E G H | 90411 | 18451 | ORPHA:35909 | Combined deficiency of factor V and factor VIII | | | | 77 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | MCFD2 CL E G H | 90411 | 18451 | ORPHA:35909 | Combined deficiency of factor V and factor VIII | | | | 77 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | MECP2 CL E G H | 4204 | 6990 | ORPHA:778 | Rett syndrome | | | | 950 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | MLIP CL E G H | 90523 | 21355 | OMIM:620138 | | | | | | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | MLIP CL E G H | 90523 | 21355 | OMIM:620138 | | | | | | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | MMAA CL E G H | 166785 | 18871 | OMIM:251100 | Methylmalonic aciduria, Cbla type | | | | 113 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | MMAB CL E G H | 326625 | 19331 | OMIM:251110 | Methylmalonic aciduria, Cblb type | | | | 127 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | | | | 101 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | MMUT CL E G H | 4594 | 7526 | OMIM:251000 | Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency | | | | | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | MMUT CL E G H | 4594 | 7526 | ORPHA:79312 | Vitamin B12-unresponsive methylmalonic acidemia type mut- | | | | | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | MMUT CL E G H | 4594 | 7526 | ORPHA:289916 | Vitamin B12-unresponsive methylmalonic acidemia type mut0 | | | | | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | MOCOS CL E G H | 55034 | 18234 | OMIM:603592 | Xanthinuria, type II | | | | 4 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | MOCOS CL E G H | 55034 | 18234 | OMIM:603592 | Xanthinuria, type II | | | | 4 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | MOCS1 CL E G H | 4337 | 7190 | OMIM:252150 | Molybdenum cofactor deficiency, complementation group A | | | | 96 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | MOCS1 CL E G H | 4337 | 7190 | OMIM:252150 | Molybdenum cofactor deficiency, complementation group A | | | | 96 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | MOCS2 CL E G H | 4338 | 7193 | OMIM:252160 | Molybdenum cofactor deficiency, complementation group B | | | | 26 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | MOCS2 CL E G H | 4338 | 7193 | OMIM:252160 | Molybdenum cofactor deficiency, complementation group B | | | | 26 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | MRM2 CL E G H | 29960 | 16352 | OMIM:618567 | MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17 | | | | | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | MUC1 CL E G H | 4582 | 7508 | OMIM:174000 | Tubulointerstitial kidney disease, autosomal dominant, 2 | | | | 1 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | MUC1 CL E G H | 4582 | 7508 | OMIM:174000 | Tubulointerstitial kidney disease, autosomal dominant, 2 | | | | 1 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | MUC1 CL E G H | 4582 | 7508 | OMIM:174000 | Tubulointerstitial kidney disease, autosomal dominant, 2 | | | | 1 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | MYC CL E G H | 4609 | 7553 | ORPHA:543 | Burkitt lymphoma | | | | 11 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | MYC CL E G H | 4609 | 7553 | ORPHA:543 | Burkitt lymphoma | | | | 11 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | NAGS CL E G H | 162417 | 17996 | ORPHA:927 | Hyperammonemia due to N-acetylglutamate synthase deficiency | | | | 36 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | NAGS CL E G H | 162417 | 17996 | OMIM:237310 | N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY | | | | 36 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | NBAS CL E G H | 51594 | 15625 | OMIM:616483 | INFANTILE LIVER FAILURE SYNDROME 2; ILFS2 | | | | 25 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | NDUFA6 CL E G H | 4700 | 7690 | OMIM:618253 | Mitochondrial complex I deficiency, nuclear type 33 | | | | 1 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:3337 | Primary Fanconi renotubular syndrome | | | | 39 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:3337 | Primary Fanconi renotubular syndrome | | | | 39 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | NFE2L2 CL E G H | 4780 | 7782 | OMIM:617744 | Immunodeficiency, developmental delay, and hypohomocysteinemia | | | | 20 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | NPHP1 CL E G H | 4867 | 7905 | OMIM:266900 | Senior-Loken syndrome 1 | | | | 85 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | NPHP1 CL E G H | 4867 | 7905 | OMIM:266900 | Senior-Loken syndrome 1 | | | | 85 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | NR1H4 CL E G H | 9971 | 7967 | OMIM:617049 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5 | | | | 14 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | NT5E CL E G H | 4907 | 8021 | ORPHA:289601 | Hereditary arterial and articular multiple calcification syndrome | | | | 3 | | |
HP:0004364 | HP:0100493 | Hypoammonemia | 1 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040283 - Occasional | | | 88 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | OTC CL E G H | 5009 | 8512 | ORPHA:664 | Ornithine transcarbamylase deficiency | | | | 369 | | |
HP:0004364 | HP:0001951 | Episodic ammonia intoxication | 1 | OTC CL E G H | 5009 | 8512 | OMIM:311250 | Ornithine transcarbamylase deficiency, hyperammonemia due to | . | | | 369 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | OTC CL E G H | 5009 | 8512 | OMIM:311250 | Ornithine transcarbamylase deficiency, hyperammonemia due to | | | | 369 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | OTC CL E G H | 5009 | 8512 | OMIM:311250 | Ornithine transcarbamylase deficiency, hyperammonemia due to | | | | 369 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | PAX2 CL E G H | 5076 | 8616 | OMIM:120330 | Papillorenal syndrome | | | | 39 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | PAX2 CL E G H | 5076 | 8616 | OMIM:120330 | Papillorenal syndrome | | | | 39 | | |
HP:0004364 | HP:0040206 | Abnormal circulating neopterin concentration | 1 | PCBD1 CL E G H | 5092 | 8646 | ORPHA:1578 | Pterin-4 alpha-carbinolamine dehydratase deficiency | HP:0040282 - Frequent | | | 24 | | |
HP:0004364 | HP:0040210 | Abnormal circulating biopterin concentration | 1 | PCBD1 CL E G H | 5092 | 8646 | ORPHA:1578 | Pterin-4 alpha-carbinolamine dehydratase deficiency | HP:0040281 - Very frequent | | | 24 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | PCCA CL E G H | 5095 | 8653 | ORPHA:35 | Propionic acidemia | | | | 96 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | PCCA CL E G H | 5095 | 8653 | OMIM:606054 | Propionic acidemia | | | | 96 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | PCCB CL E G H | 5096 | 8654 | OMIM:606054 | Propionic acidemia | | | | 92 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | PCCB CL E G H | 5096 | 8654 | ORPHA:35 | Propionic acidemia | | | | 92 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | PDHB CL E G H | 5162 | 8808 | OMIM:614111 | PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD | | | | 37 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | PFKM CL E G H | 5213 | 8877 | ORPHA:371 | Glycogen storage disease due to muscle phosphofructokinase deficiency | | | | 64 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | PFKM CL E G H | 5213 | 8877 | ORPHA:371 | Glycogen storage disease due to muscle phosphofructokinase deficiency | | | | 64 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | PFKM CL E G H | 5213 | 8877 | OMIM:232800 | Glycogen storage disease VII | | | | 64 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | PFKM CL E G H | 5213 | 8877 | OMIM:232800 | Glycogen storage disease VII | | | | 64 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | PHKA2 CL E G H | 5256 | 8926 | OMIM:306000 | Glycogen storage disease ixa | | | | 54 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | PHKA2 CL E G H | 5256 | 8926 | OMIM:306000 | Glycogen storage disease ixa | | | | 54 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | PHKB CL E G H | 5257 | 8927 | OMIM:261750 | Glycogen storage disease ixb | | | | 101 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | PHKB CL E G H | 5257 | 8927 | OMIM:261750 | Glycogen storage disease ixb | | | | 101 | | |
HP:0004364 | HP:0031970 | Abnormal blood urea nitrogen concentration | 1 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | | | | 46 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | | | | 46 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | PKD1 CL E G H | 5310 | 9008 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | 342 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | PKD1 CL E G H | 5310 | 9008 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | 342 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | PKD2 CL E G H | 5311 | 9009 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | 106 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | PKD2 CL E G H | 5311 | 9009 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | 106 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | PKD2 CL E G H | 5311 | 9009 | OMIM:613095 | Polycystic kidney disease 2 | | | | 106 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | PKD2 CL E G H | 5311 | 9009 | OMIM:613095 | Polycystic kidney disease 2 | | | | 106 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | PNP CL E G H | 4860 | 7892 | ORPHA:760 | Purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | PNP CL E G H | 4860 | 7892 | ORPHA:760 | Purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | POLG CL E G H | 5428 | 9179 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | | | | 464 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | PPARG CL E G H | 5468 | 9236 | OMIM:604367 | Lipodystrophy, familial partial, type 3 | | | | 42 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | PPARG CL E G H | 5468 | 9236 | OMIM:604367 | Lipodystrophy, familial partial, type 3 | | | | 42 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | PPARG CL E G H | 5468 | 9236 | ORPHA:79083 | PPARG-related familial partial lipodystrophy | | | | 42 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | PPARG CL E G H | 5468 | 9236 | ORPHA:79083 | PPARG-related familial partial lipodystrophy | | | | 42 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:1187 | Lethal ataxia with deafness and optic atrophy | | | | 49 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:1187 | Lethal ataxia with deafness and optic atrophy | | | | 49 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:411536 | Mild phosphoribosylpyrophosphate synthetase superactivity | | | | 49 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:411536 | Mild phosphoribosylpyrophosphate synthetase superactivity | | | | 49 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | PRPS1 CL E G H | 5631 | 9462 | OMIM:300661 | Phosphoribosylpyrophosphate synthetase superactivity | | | | 49 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | PRPS1 CL E G H | 5631 | 9462 | OMIM:300661 | Phosphoribosylpyrophosphate synthetase superactivity | | | | 49 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:411543 | Severe phosphoribosylpyrophosphate synthetase superactivity | | | | 49 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:411543 | Severe phosphoribosylpyrophosphate synthetase superactivity | | | | 49 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | PYGM CL E G H | 5837 | 9726 | OMIM:232600 | Glycogen storage disease V | | | | 166 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | PYGM CL E G H | 5837 | 9726 | OMIM:232600 | Glycogen storage disease V | | | | 166 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | REN CL E G H | 5972 | 9958 | OMIM:613092 | Hyperuricemic nephropathy, familial juvenile, 2 | | | | 25 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | REN CL E G H | 5972 | 9958 | OMIM:613092 | Hyperuricemic nephropathy, familial juvenile, 2 | | | | 25 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | RINT1 CL E G H | 60561 | 21876 | OMIM:618641 | INFANTILE LIVER FAILURE SYNDROME 3; ILFS3 | | | | 99 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | SARS2 CL E G H | 54938 | 17697 | OMIM:613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome | | | | 60 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | SARS2 CL E G H | 54938 | 17697 | OMIM:613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome | | | | 60 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | SEC61A1 CL E G H | 29927 | 18276 | OMIM:617056 | Tubulointerstitial kidney disease, autosomal dominant, 5 | | | | 2 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | SEC61A1 CL E G H | 29927 | 18276 | OMIM:617056 | Tubulointerstitial kidney disease, autosomal dominant, 5 | | | | 2 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | SERAC1 CL E G H | 84947 | 21061 | OMIM:614739 | 3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome | | | | 47 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261222 | Distal 16p11.2 microdeletion syndrome | | | | | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261222 | Distal 16p11.2 microdeletion syndrome | | | | | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | SLC22A12 CL E G H | 116085 | 17989 | ORPHA:94088 | Hereditary renal hypouricemia | | | | 56 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | SLC22A12 CL E G H | 116085 | 17989 | ORPHA:94088 | Hereditary renal hypouricemia | | | | 56 | | |
HP:0004364 | HP:0031970 | Abnormal blood urea nitrogen concentration | 1 | SLC22A12 CL E G H | 116085 | 17989 | ORPHA:94088 | Hereditary renal hypouricemia | | | | 56 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | SLC22A12 CL E G H | 116085 | 17989 | OMIM:220150 | Hypouricemia, renal, 1 | | | | 56 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | SLC22A12 CL E G H | 116085 | 17989 | OMIM:220150 | Hypouricemia, renal, 1 | | | | 56 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | SLC22A12 CL E G H | 116085 | 17989 | OMIM:220150 | Hypouricemia, renal, 1 | | | | 56 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | SLC22A5 CL E G H | 6584 | 10969 | OMIM:212140 | Carnitine deficiency, systemic primary | | | | 207 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247585 | Citrullinemia type II | | | | 82 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | SLC25A13 CL E G H | 10165 | 10983 | OMIM:603471 | Citrullinemia, type II, adult-onset | | | | 82 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247598 | Neonatal intrahepatic cholestasis due to citrin deficiency | | | | 82 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | SLC25A15 CL E G H | 10166 | 10985 | OMIM:238970 | Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome | | | | 88 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | SLC25A15 CL E G H | 10166 | 10985 | ORPHA:415 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | | | | 88 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | SLC25A20 CL E G H | 788 | 1421 | ORPHA:159 | Carnitine-acylcarnitine translocase deficiency | | | | 40 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | SLC25A20 CL E G H | 788 | 1421 | OMIM:212138 | Carnitine-acylcarnitine translocase deficiency | | | | 40 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | SLC25A42 CL E G H | 284439 | 28380 | OMIM:618416 | Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression | | | | 1 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | SLC2A2 CL E G H | 6514 | 11006 | OMIM:227810 | Fanconi-Bickel syndrome | | | | 71 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | SLC2A2 CL E G H | 6514 | 11006 | OMIM:227810 | Fanconi-Bickel syndrome | | | | 71 | | |
HP:0004364 | HP:0031970 | Abnormal blood urea nitrogen concentration | 1 | SLC2A9 CL E G H | 56606 | 13446 | ORPHA:94088 | Hereditary renal hypouricemia | | | | 57 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | SLC2A9 CL E G H | 56606 | 13446 | ORPHA:94088 | Hereditary renal hypouricemia | | | | 57 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | SLC2A9 CL E G H | 56606 | 13446 | ORPHA:94088 | Hereditary renal hypouricemia | | | | 57 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | SLC2A9 CL E G H | 56606 | 13446 | OMIM:612076 | Hypouricemia, renal, 2 | | | | 57 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | SLC2A9 CL E G H | 56606 | 13446 | OMIM:612076 | Hypouricemia, renal, 2 | | | | 57 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | SLC34A1 CL E G H | 6569 | 11019 | ORPHA:3337 | Primary Fanconi renotubular syndrome | | | | 47 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | SLC34A1 CL E G H | 6569 | 11019 | ORPHA:3337 | Primary Fanconi renotubular syndrome | | | | 47 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | | | | 110 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | | | | 110 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232220 | Glycogen storage disease ib | | | | 110 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232220 | Glycogen storage disease ib | | | | 110 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232240 | GLYCOGEN STORAGE DISEASE Ic | | | | 110 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232240 | GLYCOGEN STORAGE DISEASE Ic | | | | 110 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | SLC41A1 CL E G H | 254428 | 19429 | OMIM:619468 | NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2 | | | | | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | SLC41A1 CL E G H | 254428 | 19429 | OMIM:619468 | NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2 | | | | | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:179800 | Renal tubular acidosis, distal, autosomal dominant | | | | 109 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:179800 | Renal tubular acidosis, distal, autosomal dominant | | | | 109 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | SLC7A7 CL E G H | 9056 | 11065 | OMIM:222700 | Lysinuric protein intolerance | | | | 104 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | | | | 104 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | STOX1 CL E G H | 219736 | 23508 | ORPHA:275555 | Preeclampsia | | | | 2 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | STOX1 CL E G H | 219736 | 23508 | ORPHA:275555 | Preeclampsia | | | | 2 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | TANGO2 CL E G H | 128989 | 25439 | OMIM:616878 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | | | | 12 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | TANGO2 CL E G H | 128989 | 25439 | ORPHA:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | | | | 12 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | THBD CL E G H | 7056 | 11784 | OMIM:612926 | Hemolytic uremic syndrome, atypical, susceptibility to, 6 | | | | 60 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | THBD CL E G H | 7056 | 11784 | OMIM:612926 | Hemolytic uremic syndrome, atypical, susceptibility to, 6 | | | | 60 | | |
HP:0004364 | HP:0031970 | Abnormal blood urea nitrogen concentration | 1 | THBD CL E G H | 7056 | 11784 | OMIM:612926 | Hemolytic uremic syndrome, atypical, susceptibility to, 6 | | | | 60 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | TMEM260 CL E G H | 54916 | 20185 | OMIM:617478 | Structural heart defects and renal anomalies syndrome | | | | 2 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | TMEM260 CL E G H | 54916 | 20185 | OMIM:617478 | Structural heart defects and renal anomalies syndrome | | | | 2 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | TMEM70 CL E G H | 54968 | 26050 | OMIM:614052 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 2 | | | | 63 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | TMEM70 CL E G H | 54968 | 26050 | ORPHA:1194 | TMEM70-related mitochondrial encephalo-cardio-myopathy | | | | 63 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | TNFRSF11A CL E G H | 8792 | 11908 | ORPHA:2801 | Juvenile Paget disease | | | | 72 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | TNFRSF11A CL E G H | 8792 | 11908 | ORPHA:2801 | Juvenile Paget disease | | | | 72 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | TNFRSF11B CL E G H | 4982 | 11909 | ORPHA:2801 | Juvenile Paget disease | | | | 44 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | TNFRSF11B CL E G H | 4982 | 11909 | ORPHA:2801 | Juvenile Paget disease | | | | 44 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | TNFRSF11B CL E G H | 4982 | 11909 | OMIM:239000 | Paget disease of bone 5, juvenile-onset | | | | 44 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | TNFRSF11B CL E G H | 4982 | 11909 | OMIM:239000 | Paget disease of bone 5, juvenile-onset | | | | 44 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | TREX1 CL E G H | 11277 | 12269 | ORPHA:247691 | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | | | | 56 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | TREX1 CL E G H | 11277 | 12269 | ORPHA:247691 | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | | | | 56 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | TUFM CL E G H | 7284 | 12420 | OMIM:610678 | Combined oxidative phosphorylation deficiency 4 | | | | 55 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | TYMP CL E G H | 1890 | 3148 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | | | | 138 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | UMOD CL E G H | 7369 | 12559 | OMIM:162000 | Hyperuricemic nephropathy, familial juvenile, 1 | | | | 66 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | UMOD CL E G H | 7369 | 12559 | OMIM:162000 | Hyperuricemic nephropathy, familial juvenile, 1 | | | | 66 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | UQCRC2 CL E G H | 7385 | 12586 | OMIM:615160 | Mitochondrial complex III deficiency, nuclear type 5 | | | | 17 | | |
HP:0004364 | HP:0012100 | Abnormal circulating creatinine concentration | 1 | WDR19 CL E G H | 57728 | 18340 | OMIM:614376 | Short-Rib thoracic dysplasia 5 with or without polydactyly | | | | 95 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | WDR19 CL E G H | 57728 | 18340 | OMIM:614376 | Short-Rib thoracic dysplasia 5 with or without polydactyly | | | | 95 | | |
HP:0004364 | HP:0010932 | Abnormal circulating nucleobase concentration | 1 | XDH CL E G H | 7498 | 12805 | OMIM:278300 | Xanthinuria, type I | | | | 79 | | |
HP:0004364 | HP:0002157 | Azotemia | 1 | ZPR1 CL E G H | 8882 | 13051 | OMIM:619321 | GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF | | | | | | |
HP:0004364 | HP:0410206 | Increased circulating nicotinurate level | 2 | CL E G H | | | | | | | | | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | HP:0040282 - Frequent | | | 15 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | AASS CL E G H | 10157 | 17366 | ORPHA:3124 | Saccharopinuria | HP:0040283 - Occasional | | | 15 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | ACAD9 CL E G H | 28976 | 21497 | ORPHA:99901 | Acyl-CoA dehydrogenase 9 deficiency | HP:0040282 - Frequent | | | 98 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | ACADM CL E G H | 34 | 89 | ORPHA:42 | Medium chain acyl-CoA dehydrogenase deficiency | HP:0040282 - Frequent | | | 197 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | ACADVL CL E G H | 37 | 92 | ORPHA:26793 | Very long chain acyl-CoA dehydrogenase deficiency | HP:0040284 - Very rare | | | 200 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | ACADVL CL E G H | 37 | 92 | OMIM:201475 | Very long-chain acyl-CoA dehydrogenase deficiency | | | | 200 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | ACAT1 CL E G H | 38 | 93 | ORPHA:134 | Beta-ketothiolase deficiency | HP:0040282 - Frequent | | | 91 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | ACAT1 CL E G H | 38 | 93 | ORPHA:134 | Beta-ketothiolase deficiency | HP:0040281 - Very frequent | | | 91 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | ADAMTS13 CL E G H | 11093 | 1366 | OMIM:274150 | Thrombotic thrombocytopenic purpura, hereditary | . | | | 129 | | |
HP:0004364 | HP:0003138 | Increased blood urea nitrogen | 2 | ADAMTS13 CL E G H | 11093 | 1366 | OMIM:274150 | Thrombotic thrombocytopenic purpura, hereditary | . | | | 129 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | ALDOB CL E G H | 229 | 417 | OMIM:229600 | Fructose intolerance, hereditary | . | | | 73 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | ALDOB CL E G H | 229 | 417 | ORPHA:469 | Hereditary fructose intolerance | HP:0040283 - Occasional | | | 73 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | ALG5 CL E G H | 29880 | 20266 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | ALG8 CL E G H | 79053 | 23161 | OMIM:608104 | Congenital disorder of glycosylation, type Ih | | | | 46 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | ALG9 CL E G H | 79796 | 15672 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | 93 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | . | | | 404 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | APRT CL E G H | 353 | 626 | OMIM:614723 | Adenine phosphoribosyltransferase deficiency | | | | 19 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | ARG1 CL E G H | 383 | 663 | OMIM:207800 | Argininemia | | | | 31 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | ARG1 CL E G H | 383 | 663 | ORPHA:90 | Argininemia | HP:0040282 - Frequent | | | 31 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | ASL CL E G H | 435 | 746 | OMIM:207900 | Argininosuccinic aciduria | . | | | 81 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | ASL CL E G H | 435 | 746 | ORPHA:23 | Argininosuccinic aciduria | HP:0040282 - Frequent | | | 81 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | ASS1 CL E G H | 445 | 758 | OMIM:215700 | Citrullinemia, classic | . | | | 119 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | ATP5F1D CL E G H | 513 | 837 | OMIM:618120 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 5 | . | | | | | |
HP:0004364 | HP:0003537 | Hypouricemia | 2 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0004364 | HP:0012101 | Decreased serum creatinine | 2 | AVPR2 CL E G H | 554 | 897 | OMIM:300539 | Nephrogenic syndrome of inappropriate antidiuresis | . | | | 67 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | BICC1 CL E G H | 80114 | 19351 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | 5 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | BTD CL E G H | 686 | 1122 | ORPHA:79241 | Biotinidase deficiency | HP:0040282 - Frequent | | | 223 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | BTD CL E G H | 686 | 1122 | OMIM:253260 | Biotinidase deficiencymultiple carboxylase deficiency, late-onset | . | | | 223 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | C3 CL E G H | 718 | 1318 | OMIM:612925 | Hemolytic uremic syndrome, atypical, susceptibility to, 5 | . | | | 92 | | |
HP:0004364 | HP:0003138 | Increased blood urea nitrogen | 2 | C3 CL E G H | 718 | 1318 | OMIM:612925 | Hemolytic uremic syndrome, atypical, susceptibility to, 5 | . | | | 92 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | CA5A CL E G H | 763 | 1377 | OMIM:615751 | Hyperammonemia due to carbonic anhydrase VA deficiency | . | | | 10 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | CAD CL E G H | 790 | 1424 | OMIM:616457 | Epileptic encephalopathy, early infantile, 50 | . | | | 10 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | CARS2 CL E G H | 79587 | 25695 | OMIM:616672 | Combined oxidative phosphorylation deficiency 27 | | | | 35 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | CC2D2A CL E G H | 57545 | 29253 | OMIM:619111 | COACH SYNDROME 2; COACH2 | | | | 247 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | CCND1 CL E G H | 595 | 1582 | ORPHA:29073 | Multiple myeloma | HP:0040282 - Frequent | | | 1 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | CD46 CL E G H | 4179 | 6953 | OMIM:612922 | Hemolytic uremic syndrome, atypical, susceptibility to, 2 | . | | | 39 | | |
HP:0004364 | HP:0003138 | Increased blood urea nitrogen | 2 | CD46 CL E G H | 4179 | 6953 | OMIM:612922 | Hemolytic uremic syndrome, atypical, susceptibility to, 2 | . | | | 39 | | |
HP:0004364 | HP:0003138 | Increased blood urea nitrogen | 2 | CFB CL E G H | 629 | 1037 | OMIM:612924 | Hemolytic uremic syndrome, atypical, susceptibility to, 4 | . | | | 30 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | CFB CL E G H | 629 | 1037 | OMIM:612924 | Hemolytic uremic syndrome, atypical, susceptibility to, 4 | . | | | 30 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | CFH CL E G H | 3075 | 4883 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | 86 | | |
HP:0004364 | HP:0003138 | Increased blood urea nitrogen | 2 | CFH CL E G H | 3075 | 4883 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | 86 | | |
HP:0004364 | HP:0003138 | Increased blood urea nitrogen | 2 | CFHR1 CL E G H | 3078 | 4888 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | CFHR1 CL E G H | 3078 | 4888 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | | | |
HP:0004364 | HP:0003138 | Increased blood urea nitrogen | 2 | CFHR3 CL E G H | 10878 | 16980 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | CFHR3 CL E G H | 10878 | 16980 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | CFI CL E G H | 3426 | 5394 | OMIM:612923 | Hemolytic uremic syndrome, atypical, susceptibility to, 3 | . | | | 57 | | |
HP:0004364 | HP:0003138 | Increased blood urea nitrogen | 2 | CFI CL E G H | 3426 | 5394 | OMIM:612923 | Hemolytic uremic syndrome, atypical, susceptibility to, 3 | . | | | 57 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | CLDN16 CL E G H | 10686 | 2037 | OMIM:248250 | Hypomagnesemia 3, renal | . | | | 58 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | COQ7 CL E G H | 10229 | 2244 | OMIM:616733 | Coenzyme Q10 deficiency, primary, 8 | | | | 1 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | CORIN CL E G H | 10699 | 19012 | ORPHA:275555 | Preeclampsia | HP:0040284 - Very rare | | | 5 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | COX6B1 CL E G H | 1340 | 2280 | OMIM:619051 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7 | | | | 10 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | CPS1 CL E G H | 1373 | 2323 | OMIM:237300 | Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to | . | | | 124 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | CPS1 CL E G H | 1373 | 2323 | ORPHA:147 | Carbamoyl-phosphate synthetase 1 deficiency | HP:0040281 - Very frequent | | | 124 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | CPT1A CL E G H | 1374 | 2328 | OMIM:255120 | Carnitine palmitoyltransferase I deficiency | . | | | 99 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | HP:0040283 - Occasional | | | 101 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | CPT2 CL E G H | 1376 | 2330 | OMIM:600649 | Carnitine palmitoyltransferase II deficiency, infantile | . | | | 101 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | . | | | 101 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | | | | 101 | | |
HP:0004364 | HP:0031969 | Reduced blood urea nitrogen | 2 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | HP:0040283 - Occasional | | | 178 | | |
HP:0004364 | HP:0003537 | Hypouricemia | 2 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | HP:0040283 - Occasional | | | 178 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | CYC1 CL E G H | 1537 | 2579 | OMIM:615453 | Mitochondrial complex III deficiency, nuclear type 6 | . | | | 12 | | |
HP:0004364 | HP:0003138 | Increased blood urea nitrogen | 2 | DBH CL E G H | 1621 | 2689 | ORPHA:230 | Dopamine beta-hydroxylase deficiency | HP:0040282 - Frequent | | | 80 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | DBH CL E G H | 1621 | 2689 | ORPHA:230 | Dopamine beta-hydroxylase deficiency | HP:0040282 - Frequent | | | 80 | | |
HP:0004364 | HP:0003138 | Increased blood urea nitrogen | 2 | DBH CL E G H | 1621 | 2689 | OMIM:223360 | Dopamine beta-hydroxylase deficiency, congenital | | | | 80 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | DLD CL E G H | 1738 | 2898 | ORPHA:2394 | Pyruvate dehydrogenase E3 deficiency | HP:0040283 - Occasional | | | 89 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | DNAJB11 CL E G H | 51726 | 14889 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | | | |
HP:0004364 | HP:0004353 | Abnormal circulating pyrimidine concentration | 2 | DPYS CL E G H | 1807 | 3013 | OMIM:222748 | Dihydropyrimidinuria | | | | 44 | | |
HP:0004364 | HP:0003537 | Hypouricemia | 2 | EHHADH CL E G H | 1962 | 3247 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0004364 | HP:0003138 | Increased blood urea nitrogen | 2 | ELP1 CL E G H | 8518 | 5959 | OMIM:223900 | Neuropathy, hereditary sensory and autonomic, type III | . | | | 133 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | ELP1 CL E G H | 8518 | 5959 | OMIM:223900 | Neuropathy, hereditary sensory and autonomic, type III | . | | | 133 | | |
HP:0004364 | HP:0003138 | Increased blood urea nitrogen | 2 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040282 - Frequent | | | 158 | | |
HP:0004364 | HP:0003138 | Increased blood urea nitrogen | 2 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040282 - Frequent | | | 199 | | |
HP:0004364 | HP:0003138 | Increased blood urea nitrogen | 2 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040282 - Frequent | | | 55 | | |
HP:0004364 | HP:0003138 | Increased blood urea nitrogen | 2 | FAN1 CL E G H | 22909 | 29170 | OMIM:614817 | Interstitial nephritis, karyomegalic | . | | | 15 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | FAN1 CL E G H | 22909 | 29170 | OMIM:614817 | Interstitial nephritis, karyomegalic | . | | | 15 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | FBP1 CL E G H | 2203 | 3606 | ORPHA:348 | Fructose-1,6-bisphosphatase deficiency | HP:0040282 - Frequent | | | 64 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | FLT1 CL E G H | 2321 | 3763 | ORPHA:275555 | Preeclampsia | HP:0040284 - Very rare | | | 11 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | G6PC1 CL E G H | 2538 | 4056 | OMIM:232200 | Glycogen storage disease ia | . | | | | | |
HP:0004364 | HP:0012101 | Decreased serum creatinine | 2 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | |
HP:0004364 | HP:0012101 | Decreased serum creatinine | 2 | GAMT CL E G H | 2593 | 4136 | OMIM:612736 | Cerebral creatine deficiency syndrome 2 | | | | 91 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | GANAB CL E G H | 23193 | 4138 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | 6 | | |
HP:0004364 | HP:0003537 | Hypouricemia | 2 | GATM CL E G H | 2628 | 4175 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040282 - Frequent | | | 86 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | GLUD1 CL E G H | 2746 | 4335 | OMIM:606762 | Hyperinsulinemic hypoglycemia, familial, 6 | | | | 56 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | GLUD1 CL E G H | 2746 | 4335 | ORPHA:35878 | Hyperinsulinism-hyperammonemia syndrome | | | | 56 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | GLUL CL E G H | 2752 | 4341 | OMIM:610015 | GLUTAMINE DEFICIENCY, CONGENITAL | | | | 98 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | GOT2 CL E G H | 2806 | 4433 | OMIM:618721 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82 | | | | | | |
HP:0004364 | HP:0003537 | Hypouricemia | 2 | GPHN CL E G H | 10243 | 15465 | OMIM:615501 | Molybdenum cofactor deficiency, complementation group C | . | | | 18 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 41 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | HADHA CL E G H | 3030 | 4801 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | | | | 99 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | HADHB CL E G H | 3032 | 4803 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | | | | 60 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | HBB CL E G H | 3043 | 4827 | ORPHA:232 | Sickle cell anemia | HP:0040283 - Occasional | | | 580 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | HLCS CL E G H | 3141 | 4976 | OMIM:253270 | Holocarboxylase synthetase deficiency | . | | | 148 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | HLCS CL E G H | 3141 | 4976 | ORPHA:79242 | Holocarboxylase synthetase deficiency | HP:0040282 - Frequent | | | 148 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | HP:0040282 - Frequent | | | 35 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | HP:0040281 - Very frequent | | | 35 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | HMGCL CL E G H | 3155 | 5005 | OMIM:246450 | 3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency | . | | | 35 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | HMGCL CL E G H | 3155 | 5005 | OMIM:246450 | 3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency | . | | | 35 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | HNF1B CL E G H | 6928 | 11630 | ORPHA:93111 | HNF1B-related autosomal dominant tubulointerstitial kidney disease | HP:0040283 - Occasional | | | 90 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | HNF1B CL E G H | 6928 | 11630 | OMIM:137920 | Renal cysts and diabetes syndrome | | | | 90 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | HNF1B CL E G H | 6928 | 11630 | OMIM:137920 | Renal cysts and diabetes syndrome | | | | 90 | | |
HP:0004364 | HP:0003537 | Hypouricemia | 2 | HNF4A CL E G H | 3172 | 5024 | OMIM:616026 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | . | | | 138 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | HPRT1 CL E G H | 3251 | 5157 | OMIM:300323 | Gout, hprt-related | . | | | 76 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | HPRT1 CL E G H | 3251 | 5157 | ORPHA:79233 | Hypoxanthine guanine phosphoribosyltransferase partial deficiency | HP:0040283 - Occasional | | | 76 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | HPRT1 CL E G H | 3251 | 5157 | ORPHA:79233 | Hypoxanthine guanine phosphoribosyltransferase partial deficiency | HP:0040282 - Frequent | | | 76 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | HPRT1 CL E G H | 3251 | 5157 | ORPHA:510 | Lesch-Nyhan syndrome | HP:0040281 - Very frequent | | | 76 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | HPRT1 CL E G H | 3251 | 5157 | OMIM:300322 | Lesch-Nyhan syndrome | . | | | 76 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | HSD17B10 CL E G H | 3028 | 4800 | ORPHA:391428 | HSD10 disease, infantile type | HP:0040283 - Occasional | | | 19 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | IFT140 CL E G H | 9742 | 29077 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | 148 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | INVS CL E G H | 27130 | 17870 | OMIM:602088 | Nephronophthisis 2 | . | | | 106 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | LMAN1 CL E G H | 3998 | 6631 | ORPHA:35909 | Combined deficiency of factor V and factor VIII | HP:0040284 - Very rare | | | 56 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | MARS1 CL E G H | 4141 | 6898 | OMIM:615486 | Interstitial lung and liver disease | | | | | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | MCCC1 CL E G H | 56922 | 6936 | OMIM:210200 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | | | | 81 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | MCCC1 CL E G H | 56922 | 6936 | ORPHA:6 | 3-methylcrotonyl-CoA carboxylase deficiency | HP:0040282 - Frequent | | | 81 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | MCCC2 CL E G H | 64087 | 6937 | OMIM:210210 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | | | | 77 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | MCCC2 CL E G H | 64087 | 6937 | ORPHA:6 | 3-methylcrotonyl-CoA carboxylase deficiency | HP:0040282 - Frequent | | | 77 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | MCFD2 CL E G H | 90411 | 18451 | ORPHA:35909 | Combined deficiency of factor V and factor VIII | HP:0040284 - Very rare | | | 77 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | MECP2 CL E G H | 4204 | 6990 | ORPHA:778 | Rett syndrome | HP:0040283 - Occasional | | | 950 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | MLIP CL E G H | 90523 | 21355 | OMIM:620138 | | | | | | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | MMAA CL E G H | 166785 | 18871 | OMIM:251100 | Methylmalonic aciduria, Cbla type | . | | | 113 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | MMAB CL E G H | 326625 | 19331 | OMIM:251110 | Methylmalonic aciduria, Cblb type | . | | | 127 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | HP:0040283 - Occasional | | | 101 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | MMUT CL E G H | 4594 | 7526 | OMIM:251000 | Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency | . | | | | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | MMUT CL E G H | 4594 | 7526 | ORPHA:79312 | Vitamin B12-unresponsive methylmalonic acidemia type mut- | HP:0040281 - Very frequent | | | | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | MMUT CL E G H | 4594 | 7526 | ORPHA:289916 | Vitamin B12-unresponsive methylmalonic acidemia type mut0 | HP:0040283 - Occasional | | | | | |
HP:0004364 | HP:0003537 | Hypouricemia | 2 | MOCOS CL E G H | 55034 | 18234 | OMIM:603592 | Xanthinuria, type II | . | | | 4 | | |
HP:0004364 | HP:0004352 | Abnormal circulating purine concentration | 2 | MOCOS CL E G H | 55034 | 18234 | OMIM:603592 | Xanthinuria, type II | | | | 4 | | |
HP:0004364 | HP:0003537 | Hypouricemia | 2 | MOCS1 CL E G H | 4337 | 7190 | OMIM:252150 | Molybdenum cofactor deficiency, complementation group A | . | | | 96 | | |
HP:0004364 | HP:0003537 | Hypouricemia | 2 | MOCS2 CL E G H | 4338 | 7193 | OMIM:252160 | Molybdenum cofactor deficiency, complementation group B | . | | | 26 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | MRM2 CL E G H | 29960 | 16352 | OMIM:618567 | MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17 | | | | | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | MUC1 CL E G H | 4582 | 7508 | OMIM:174000 | Tubulointerstitial kidney disease, autosomal dominant, 2 | . | | | 1 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | MUC1 CL E G H | 4582 | 7508 | OMIM:174000 | Tubulointerstitial kidney disease, autosomal dominant, 2 | . | | | 1 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | MYC CL E G H | 4609 | 7553 | ORPHA:543 | Burkitt lymphoma | HP:0040282 - Frequent | | | 11 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | NAGS CL E G H | 162417 | 17996 | ORPHA:927 | Hyperammonemia due to N-acetylglutamate synthase deficiency | HP:0040281 - Very frequent | | | 36 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | NAGS CL E G H | 162417 | 17996 | OMIM:237310 | N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY | . | | | 36 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | NBAS CL E G H | 51594 | 15625 | OMIM:616483 | INFANTILE LIVER FAILURE SYNDROME 2; ILFS2 | | | | 25 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | NDUFA6 CL E G H | 4700 | 7690 | OMIM:618253 | Mitochondrial complex I deficiency, nuclear type 33 | . | | | 1 | | |
HP:0004364 | HP:0003537 | Hypouricemia | 2 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040282 - Frequent | | | 39 | | |
HP:0004364 | HP:0012101 | Decreased serum creatinine | 2 | NFE2L2 CL E G H | 4780 | 7782 | OMIM:617744 | Immunodeficiency, developmental delay, and hypohomocysteinemia | | | | 20 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | NPHP1 CL E G H | 4867 | 7905 | OMIM:266900 | Senior-Loken syndrome 1 | | | | 85 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | NR1H4 CL E G H | 9971 | 7967 | OMIM:617049 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5 | | | | 14 | | |
HP:0004364 | HP:0012101 | Decreased serum creatinine | 2 | NT5E CL E G H | 4907 | 8021 | ORPHA:289601 | Hereditary arterial and articular multiple calcification syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | OTC CL E G H | 5009 | 8512 | ORPHA:664 | Ornithine transcarbamylase deficiency | HP:0040281 - Very frequent | | | 369 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | OTC CL E G H | 5009 | 8512 | OMIM:311250 | Ornithine transcarbamylase deficiency, hyperammonemia due to | . | | | 369 | | |
HP:0004364 | HP:0004353 | Abnormal circulating pyrimidine concentration | 2 | OTC CL E G H | 5009 | 8512 | OMIM:311250 | Ornithine transcarbamylase deficiency, hyperammonemia due to | | | | 369 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | PAX2 CL E G H | 5076 | 8616 | OMIM:120330 | Papillorenal syndrome | | | | 39 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | PCCA CL E G H | 5095 | 8653 | ORPHA:35 | Propionic acidemia | HP:0040281 - Very frequent | | | 96 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | PCCA CL E G H | 5095 | 8653 | OMIM:606054 | Propionic acidemia | . | | | 96 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | PCCB CL E G H | 5096 | 8654 | OMIM:606054 | Propionic acidemia | . | | | 92 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | PCCB CL E G H | 5096 | 8654 | ORPHA:35 | Propionic acidemia | HP:0040281 - Very frequent | | | 92 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | PDHB CL E G H | 5162 | 8808 | OMIM:614111 | PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD | | | | 37 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | PFKM CL E G H | 5213 | 8877 | ORPHA:371 | Glycogen storage disease due to muscle phosphofructokinase deficiency | HP:0040282 - Frequent | | | 64 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | PFKM CL E G H | 5213 | 8877 | OMIM:232800 | Glycogen storage disease VII | . | | | 64 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | PHKA2 CL E G H | 5256 | 8926 | OMIM:306000 | Glycogen storage disease ixa | | | | 54 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | PHKB CL E G H | 5257 | 8927 | OMIM:261750 | Glycogen storage disease ixb | | | | 101 | | |
HP:0004364 | HP:0003138 | Increased blood urea nitrogen | 2 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | HP:0040282 - Frequent | | | 46 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | PKD1 CL E G H | 5310 | 9008 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | 342 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | PKD2 CL E G H | 5311 | 9009 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | 106 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | PKD2 CL E G H | 5311 | 9009 | OMIM:613095 | Polycystic kidney disease 2 | . | | | 106 | | |
HP:0004364 | HP:0003537 | Hypouricemia | 2 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0004364 | HP:0004352 | Abnormal circulating purine concentration | 2 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0004364 | HP:0003537 | Hypouricemia | 2 | PNP CL E G H | 4860 | 7892 | ORPHA:760 | Purine nucleoside phosphorylase deficiency | HP:0040282 - Frequent | | | 52 | | |
HP:0004364 | HP:0004353 | Abnormal circulating pyrimidine concentration | 2 | POLG CL E G H | 5428 | 9179 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | | | | 464 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | PPARG CL E G H | 5468 | 9236 | OMIM:604367 | Lipodystrophy, familial partial, type 3 | . | | | 42 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | PPARG CL E G H | 5468 | 9236 | ORPHA:79083 | PPARG-related familial partial lipodystrophy | HP:0040283 - Occasional | | | 42 | | |
HP:0004364 | HP:0003537 | Hypouricemia | 2 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:1187 | Lethal ataxia with deafness and optic atrophy | HP:0040282 - Frequent | | | 49 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:411536 | Mild phosphoribosylpyrophosphate synthetase superactivity | HP:0040281 - Very frequent | | | 49 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | PRPS1 CL E G H | 5631 | 9462 | OMIM:300661 | Phosphoribosylpyrophosphate synthetase superactivity | | | | 49 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:411543 | Severe phosphoribosylpyrophosphate synthetase superactivity | HP:0040281 - Very frequent | | | 49 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | PYGM CL E G H | 5837 | 9726 | OMIM:232600 | Glycogen storage disease V | | | | 166 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | REN CL E G H | 5972 | 9958 | OMIM:613092 | Hyperuricemic nephropathy, familial juvenile, 2 | . | | | 25 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | RINT1 CL E G H | 60561 | 21876 | OMIM:618641 | INFANTILE LIVER FAILURE SYNDROME 3; ILFS3 | | | | 99 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | SARS2 CL E G H | 54938 | 17697 | OMIM:613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome | . | | | 60 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | SEC61A1 CL E G H | 29927 | 18276 | OMIM:617056 | Tubulointerstitial kidney disease, autosomal dominant, 5 | . | | | 2 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | SERAC1 CL E G H | 84947 | 21061 | OMIM:614739 | 3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome | . | | | 47 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261222 | Distal 16p11.2 microdeletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0004364 | HP:0003138 | Increased blood urea nitrogen | 2 | SLC22A12 CL E G H | 116085 | 17989 | ORPHA:94088 | Hereditary renal hypouricemia | HP:0040283 - Occasional | | | 56 | | |
HP:0004364 | HP:0003537 | Hypouricemia | 2 | SLC22A12 CL E G H | 116085 | 17989 | ORPHA:94088 | Hereditary renal hypouricemia | HP:0040280 - Obligate | | | 56 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | SLC22A12 CL E G H | 116085 | 17989 | OMIM:220150 | Hypouricemia, renal, 1 | | | | 56 | | |
HP:0004364 | HP:0003537 | Hypouricemia | 2 | SLC22A12 CL E G H | 116085 | 17989 | OMIM:220150 | Hypouricemia, renal, 1 | . | | | 56 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | SLC22A5 CL E G H | 6584 | 10969 | OMIM:212140 | Carnitine deficiency, systemic primary | . | | | 207 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247585 | Citrullinemia type II | | | | 82 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | SLC25A13 CL E G H | 10165 | 10983 | OMIM:603471 | Citrullinemia, type II, adult-onset | . | | | 82 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247598 | Neonatal intrahepatic cholestasis due to citrin deficiency | HP:0040282 - Frequent | | | 82 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | SLC25A15 CL E G H | 10166 | 10985 | ORPHA:415 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | HP:0040281 - Very frequent | | | 88 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | SLC25A15 CL E G H | 10166 | 10985 | OMIM:238970 | Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome | . | | | 88 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | SLC25A20 CL E G H | 788 | 1421 | OMIM:212138 | Carnitine-acylcarnitine translocase deficiency | . | | | 40 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | SLC25A20 CL E G H | 788 | 1421 | ORPHA:159 | Carnitine-acylcarnitine translocase deficiency | HP:0040281 - Very frequent | | | 40 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | 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:0004364 | HP:0003537 | Hypouricemia | 2 | SLC2A2 CL E G H | 6514 | 11006 | OMIM:227810 | Fanconi-Bickel syndrome | . | | | 71 | | |
HP:0004364 | HP:0003537 | Hypouricemia | 2 | SLC2A9 CL E G H | 56606 | 13446 | ORPHA:94088 | Hereditary renal hypouricemia | HP:0040280 - Obligate | | | 57 | | |
HP:0004364 | HP:0003138 | Increased blood urea nitrogen | 2 | SLC2A9 CL E G H | 56606 | 13446 | ORPHA:94088 | Hereditary renal hypouricemia | HP:0040283 - Occasional | | | 57 | | |
HP:0004364 | HP:0003537 | Hypouricemia | 2 | SLC2A9 CL E G H | 56606 | 13446 | OMIM:612076 | Hypouricemia, renal, 2 | | | | 57 | | |
HP:0004364 | HP:0003537 | Hypouricemia | 2 | SLC34A1 CL E G H | 6569 | 11019 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040282 - Frequent | | | 47 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | 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:0004364 | HP:0002149 | Hyperuricemia | 2 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232220 | Glycogen storage disease ib | . | | | 110 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232240 | GLYCOGEN STORAGE DISEASE Ic | . | | | 110 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | SLC41A1 CL E G H | 254428 | 19429 | OMIM:619468 | NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2 | | | | | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:179800 | Renal tubular acidosis, distal, autosomal dominant | | | | 109 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | SLC7A7 CL E G H | 9056 | 11065 | OMIM:222700 | Lysinuric protein intolerance | . | | | 104 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | HP:0040282 - Frequent | | | 104 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | STOX1 CL E G H | 219736 | 23508 | ORPHA:275555 | Preeclampsia | HP:0040284 - Very rare | | | 2 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | TANGO2 CL E G H | 128989 | 25439 | OMIM:616878 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | | | | 12 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | TANGO2 CL E G H | 128989 | 25439 | ORPHA:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0004364 | HP:0003138 | Increased blood urea nitrogen | 2 | THBD CL E G H | 7056 | 11784 | OMIM:612926 | Hemolytic uremic syndrome, atypical, susceptibility to, 6 | . | | | 60 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | THBD CL E G H | 7056 | 11784 | OMIM:612926 | Hemolytic uremic syndrome, atypical, susceptibility to, 6 | . | | | 60 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | TMEM260 CL E G H | 54916 | 20185 | OMIM:617478 | Structural heart defects and renal anomalies syndrome | | | | 2 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | TMEM70 CL E G H | 54968 | 26050 | OMIM:614052 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 2 | . | | | 63 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | TMEM70 CL E G H | 54968 | 26050 | ORPHA:1194 | TMEM70-related mitochondrial encephalo-cardio-myopathy | HP:0040281 - Very frequent | | | 63 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | TNFRSF11A CL E G H | 8792 | 11908 | ORPHA:2801 | Juvenile Paget disease | HP:0040281 - Very frequent | | | 72 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | TNFRSF11B CL E G H | 4982 | 11909 | ORPHA:2801 | Juvenile Paget disease | HP:0040281 - Very frequent | | | 44 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | TNFRSF11B CL E G H | 4982 | 11909 | OMIM:239000 | Paget disease of bone 5, juvenile-onset | . | | | 44 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | TREX1 CL E G H | 11277 | 12269 | ORPHA:247691 | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | HP:0040282 - Frequent | | | 56 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | TUFM CL E G H | 7284 | 12420 | OMIM:610678 | Combined oxidative phosphorylation deficiency 4 | | | | 55 | | |
HP:0004364 | HP:0004353 | Abnormal circulating pyrimidine concentration | 2 | TYMP CL E G H | 1890 | 3148 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | | | | 138 | | |
HP:0004364 | HP:0002149 | Hyperuricemia | 2 | UMOD CL E G H | 7369 | 12559 | OMIM:162000 | Hyperuricemic nephropathy, familial juvenile, 1 | . | | | 66 | | |
HP:0004364 | HP:0001987 | Hyperammonemia | 2 | UQCRC2 CL E G H | 7385 | 12586 | OMIM:615160 | Mitochondrial complex III deficiency, nuclear type 5 | | | | 17 | | |
HP:0004364 | HP:0003259 | Elevated circulating creatinine concentration | 2 | WDR19 CL E G H | 57728 | 18340 | OMIM:614376 | Short-Rib thoracic dysplasia 5 with or without polydactyly | . | | | 95 | | |
HP:0004364 | HP:0004352 | Abnormal circulating purine concentration | 2 | XDH CL E G H | 7498 | 12805 | OMIM:278300 | Xanthinuria, type I | | | | 79 | | |
HP:0004364 | HP:0004369 | Decreased circulating purine concentration | 3 | CL E G H | | | | | | | | | | |
HP:0004364 | HP:0033139 | Elevated circulating uracil concentration | 3 | DPYS CL E G H | 1807 | 3013 | OMIM:222748 | Dihydropyrimidinuria | | | | 44 | | |
HP:0004364 | HP:0008162 | Asymptomatic hyperammonemia | 3 | GLUD1 CL E G H | 2746 | 4335 | OMIM:606762 | Hyperinsulinemic hypoglycemia, familial, 6 | . | | | 56 | | |
HP:0004364 | HP:0008162 | Asymptomatic hyperammonemia | 3 | GLUD1 CL E G H | 2746 | 4335 | ORPHA:35878 | Hyperinsulinism-hyperammonemia syndrome | HP:0040281 - Very frequent | | | 56 | | |
HP:0004364 | HP:0008281 | Acute hyperammonemia | 3 | MCCC1 CL E G H | 56922 | 6936 | OMIM:210200 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | . | | | 81 | | |
HP:0004364 | HP:0008281 | Acute hyperammonemia | 3 | MCCC2 CL E G H | 64087 | 6937 | OMIM:210210 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | . | | | 77 | | |
HP:0004364 | HP:0004368 | Increased circulating purine concentration | 3 | MOCOS CL E G H | 55034 | 18234 | OMIM:603592 | Xanthinuria, type II | | | | 4 | | |
HP:0004364 | HP:0008281 | Acute hyperammonemia | 3 | NAGS CL E G H | 162417 | 17996 | ORPHA:927 | Hyperammonemia due to N-acetylglutamate synthase deficiency | HP:0040283 - Occasional | | | 36 | | |
HP:0004364 | HP:0033139 | Elevated circulating uracil concentration | 3 | OTC CL E G H | 5009 | 8512 | OMIM:311250 | Ornithine transcarbamylase deficiency, hyperammonemia due to | | | | 369 | | |
HP:0004364 | HP:0004368 | Increased circulating purine concentration | 3 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0004364 | HP:0034276 | Elevated circulating thymidine concentration | 3 | POLG CL E G H | 5428 | 9179 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | | | | 464 | | |
HP:0004364 | HP:0034277 | Elevated circulating deoxyuridine concentration | 3 | POLG CL E G H | 5428 | 9179 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | | | | 464 | | |
HP:0004364 | HP:0008281 | Acute hyperammonemia | 3 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247585 | Citrullinemia type II | HP:0040281 - Very frequent | | | 82 | | |
HP:0004364 | HP:0034277 | Elevated circulating deoxyuridine concentration | 3 | TYMP CL E G H | 1890 | 3148 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | | | | 138 | | |
HP:0004364 | HP:0034276 | Elevated circulating thymidine concentration | 3 | TYMP CL E G H | 1890 | 3148 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | | | | 138 | | |
HP:0004364 | HP:0004368 | Increased circulating purine concentration | 3 | XDH CL E G H | 7498 | 12805 | OMIM:278300 | Xanthinuria, type I | | | | 79 | | |
HP:0004364 | HP:0010933 | Hyperxanthinemia | 4 | MOCOS CL E G H | 55034 | 18234 | OMIM:603592 | Xanthinuria, type II | | | | 4 | | |
HP:0004364 | HP:0034333 | Increased circulating hypoxanthine concentration | 4 | MOCOS CL E G H | 55034 | 18234 | OMIM:603592 | Xanthinuria, type II | | | | 4 | | |
HP:0004364 | HP:0033340 | Increased circulating guanosine concentration | 4 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0004364 | HP:0033339 | Increased circulating inosine concentration | 4 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0004364 | HP:0010933 | Hyperxanthinemia | 4 | XDH CL E G H | 7498 | 12805 | OMIM:278300 | Xanthinuria, type I | | | | 79 | | |