Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | HP:0040282 - Frequent | | | 15 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | AASS CL E G H | 10157 | 17366 | ORPHA:3124 | Saccharopinuria | HP:0040283 - Occasional | | | 15 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | ACAD9 CL E G H | 28976 | 21497 | ORPHA:99901 | Acyl-CoA dehydrogenase 9 deficiency | HP:0040282 - Frequent | | | 98 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | ACADM CL E G H | 34 | 89 | ORPHA:42 | Medium chain acyl-CoA dehydrogenase deficiency | HP:0040282 - Frequent | | | 197 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | ACADVL CL E G H | 37 | 92 | ORPHA:26793 | Very long chain acyl-CoA dehydrogenase deficiency | HP:0040284 - Very rare | | | 200 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | ACADVL CL E G H | 37 | 92 | OMIM:201475 | Very long-chain acyl-CoA dehydrogenase deficiency | | | | 200 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | ACAT1 CL E G H | 38 | 93 | ORPHA:134 | Beta-ketothiolase deficiency | HP:0040282 - Frequent | | | 91 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | ARG1 CL E G H | 383 | 663 | ORPHA:90 | Argininemia | HP:0040282 - Frequent | | | 31 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | ARG1 CL E G H | 383 | 663 | OMIM:207800 | Argininemia | | | | 31 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | ASL CL E G H | 435 | 746 | OMIM:207900 | Argininosuccinic aciduria | . | | | 81 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | ASL CL E G H | 435 | 746 | ORPHA:23 | Argininosuccinic aciduria | HP:0040282 - Frequent | | | 81 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | ASS1 CL E G H | 445 | 758 | OMIM:215700 | Citrullinemia, classic | . | | | 119 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | ATP5F1D CL E G H | 513 | 837 | OMIM:618120 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 5 | . | | | | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | BTD CL E G H | 686 | 1122 | ORPHA:79241 | Biotinidase deficiency | HP:0040282 - Frequent | | | 223 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | BTD CL E G H | 686 | 1122 | OMIM:253260 | Biotinidase deficiencymultiple carboxylase deficiency, late-onset | . | | | 223 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | CA5A CL E G H | 763 | 1377 | OMIM:615751 | Hyperammonemia due to carbonic anhydrase VA deficiency | . | | | 10 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | CAD CL E G H | 790 | 1424 | OMIM:616457 | Epileptic encephalopathy, early infantile, 50 | . | | | 10 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | CARS2 CL E G H | 79587 | 25695 | OMIM:616672 | Combined oxidative phosphorylation deficiency 27 | | | | 35 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | COX6B1 CL E G H | 1340 | 2280 | OMIM:619051 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7 | | | | 10 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | CPS1 CL E G H | 1373 | 2323 | OMIM:237300 | Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to | . | | | 124 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | CPS1 CL E G H | 1373 | 2323 | ORPHA:147 | Carbamoyl-phosphate synthetase 1 deficiency | HP:0040281 - Very frequent | | | 124 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | CPT1A CL E G H | 1374 | 2328 | OMIM:255120 | Carnitine palmitoyltransferase I deficiency | . | | | 99 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | HP:0040283 - Occasional | | | 101 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:600649 | Carnitine palmitoyltransferase II deficiency, infantile | . | | | 101 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | . | | | 101 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | CYC1 CL E G H | 1537 | 2579 | OMIM:615453 | Mitochondrial complex III deficiency, nuclear type 6 | . | | | 12 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | DLD CL E G H | 1738 | 2898 | ORPHA:2394 | Pyruvate dehydrogenase E3 deficiency | HP:0040283 - Occasional | | | 89 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | GLUD1 CL E G H | 2746 | 4335 | OMIM:606762 | Hyperinsulinemic hypoglycemia, familial, 6 | | | | 56 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | GLUD1 CL E G H | 2746 | 4335 | ORPHA:35878 | Hyperinsulinism-hyperammonemia syndrome | | | | 56 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | GLUL CL E G H | 2752 | 4341 | OMIM:610015 | GLUTAMINE DEFICIENCY, CONGENITAL | | | | 98 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | GOT2 CL E G H | 2806 | 4433 | OMIM:618721 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82 | | | | | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 41 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | HADHA CL E G H | 3030 | 4801 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | | | | 99 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | HADHB CL E G H | 3032 | 4803 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | | | | 60 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | HLCS CL E G H | 3141 | 4976 | OMIM:253270 | Holocarboxylase synthetase deficiency | . | | | 148 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | HLCS CL E G H | 3141 | 4976 | ORPHA:79242 | Holocarboxylase synthetase deficiency | HP:0040282 - Frequent | | | 148 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | HP:0040281 - Very frequent | | | 35 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | HMGCL CL E G H | 3155 | 5005 | OMIM:246450 | 3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency | . | | | 35 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | HSD17B10 CL E G H | 3028 | 4800 | ORPHA:391428 | HSD10 disease, infantile type | HP:0040283 - Occasional | | | 19 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | MARS1 CL E G H | 4141 | 6898 | OMIM:615486 | Interstitial lung and liver disease | | | | | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | MCCC1 CL E G H | 56922 | 6936 | OMIM:210200 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | | | | 81 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | MCCC1 CL E G H | 56922 | 6936 | ORPHA:6 | 3-methylcrotonyl-CoA carboxylase deficiency | HP:0040282 - Frequent | | | 81 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | MCCC2 CL E G H | 64087 | 6937 | OMIM:210210 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | | | | 77 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | MCCC2 CL E G H | 64087 | 6937 | ORPHA:6 | 3-methylcrotonyl-CoA carboxylase deficiency | HP:0040282 - Frequent | | | 77 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:778 | Rett syndrome | HP:0040283 - Occasional | | | 950 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | MMAA CL E G H | 166785 | 18871 | OMIM:251100 | Methylmalonic aciduria, Cbla type | . | | | 113 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | MMAB CL E G H | 326625 | 19331 | OMIM:251110 | Methylmalonic aciduria, Cblb type | . | | | 127 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | HP:0040283 - Occasional | | | 101 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | MMUT CL E G H | 4594 | 7526 | OMIM:251000 | Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency | . | | | | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | MMUT CL E G H | 4594 | 7526 | ORPHA:79312 | Vitamin B12-unresponsive methylmalonic acidemia type mut- | HP:0040281 - Very frequent | | | | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | MMUT CL E G H | 4594 | 7526 | ORPHA:289916 | Vitamin B12-unresponsive methylmalonic acidemia type mut0 | HP:0040283 - Occasional | | | | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | MRM2 CL E G H | 29960 | 16352 | OMIM:618567 | MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17 | | | | | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | NAGS CL E G H | 162417 | 17996 | ORPHA:927 | Hyperammonemia due to N-acetylglutamate synthase deficiency | HP:0040281 - Very frequent | | | 36 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | NAGS CL E G H | 162417 | 17996 | OMIM:237310 | N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY | . | | | 36 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | NBAS CL E G H | 51594 | 15625 | OMIM:616483 | INFANTILE LIVER FAILURE SYNDROME 2; ILFS2 | | | | 25 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | NDUFA6 CL E G H | 4700 | 7690 | OMIM:618253 | Mitochondrial complex I deficiency, nuclear type 33 | . | | | 1 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | NR1H4 CL E G H | 9971 | 7967 | OMIM:617049 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5 | | | | 14 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | OTC CL E G H | 5009 | 8512 | ORPHA:664 | Ornithine transcarbamylase deficiency | HP:0040281 - Very frequent | | | 369 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | OTC CL E G H | 5009 | 8512 | OMIM:311250 | Ornithine transcarbamylase deficiency, hyperammonemia due to | . | | | 369 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | PCCA CL E G H | 5095 | 8653 | OMIM:606054 | Propionic acidemia | . | | | 96 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | PCCA CL E G H | 5095 | 8653 | ORPHA:35 | Propionic acidemia | HP:0040281 - Very frequent | | | 96 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | PCCB CL E G H | 5096 | 8654 | ORPHA:35 | Propionic acidemia | HP:0040281 - Very frequent | | | 92 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | PCCB CL E G H | 5096 | 8654 | OMIM:606054 | Propionic acidemia | . | | | 92 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | PDHB CL E G H | 5162 | 8808 | OMIM:614111 | PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD | | | | 37 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | RINT1 CL E G H | 60561 | 21876 | OMIM:618641 | INFANTILE LIVER FAILURE SYNDROME 3; ILFS3 | | | | 99 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | SERAC1 CL E G H | 84947 | 21061 | OMIM:614739 | 3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome | . | | | 47 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | SLC22A5 CL E G H | 6584 | 10969 | OMIM:212140 | Carnitine deficiency, systemic primary | . | | | 207 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247585 | Citrullinemia type II | | | | 82 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | SLC25A13 CL E G H | 10165 | 10983 | OMIM:603471 | Citrullinemia, type II, adult-onset | . | | | 82 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247598 | Neonatal intrahepatic cholestasis due to citrin deficiency | HP:0040282 - Frequent | | | 82 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | SLC25A15 CL E G H | 10166 | 10985 | ORPHA:415 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | HP:0040281 - Very frequent | | | 88 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | SLC25A15 CL E G H | 10166 | 10985 | OMIM:238970 | Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome | . | | | 88 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | SLC25A20 CL E G H | 788 | 1421 | ORPHA:159 | Carnitine-acylcarnitine translocase deficiency | HP:0040281 - Very frequent | | | 40 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | SLC25A20 CL E G H | 788 | 1421 | OMIM:212138 | Carnitine-acylcarnitine translocase deficiency | . | | | 40 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | 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:0001987 | HP:0001987 | Hyperammonemia | 0 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | HP:0040282 - Frequent | | | 104 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | SLC7A7 CL E G H | 9056 | 11065 | OMIM:222700 | Lysinuric protein intolerance | . | | | 104 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | TANGO2 CL E G H | 128989 | 25439 | OMIM:616878 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | | | | 12 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | TANGO2 CL E G H | 128989 | 25439 | ORPHA:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | TMEM70 CL E G H | 54968 | 26050 | OMIM:614052 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 2 | . | | | 63 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | TMEM70 CL E G H | 54968 | 26050 | ORPHA:1194 | TMEM70-related mitochondrial encephalo-cardio-myopathy | HP:0040281 - Very frequent | | | 63 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | TUFM CL E G H | 7284 | 12420 | OMIM:610678 | Combined oxidative phosphorylation deficiency 4 | | | | 55 | | |
HP:0001987 | HP:0001987 | Hyperammonemia | 0 | UQCRC2 CL E G H | 7385 | 12586 | OMIM:615160 | Mitochondrial complex III deficiency, nuclear type 5 | | | | 17 | | |
HP:0001987 | HP:0008162 | Asymptomatic hyperammonemia | 1 | GLUD1 CL E G H | 2746 | 4335 | OMIM:606762 | Hyperinsulinemic hypoglycemia, familial, 6 | . | | | 56 | | |
HP:0001987 | HP:0008162 | Asymptomatic hyperammonemia | 1 | GLUD1 CL E G H | 2746 | 4335 | ORPHA:35878 | Hyperinsulinism-hyperammonemia syndrome | HP:0040281 - Very frequent | | | 56 | | |
HP:0001987 | HP:0008281 | Acute hyperammonemia | 1 | MCCC1 CL E G H | 56922 | 6936 | OMIM:210200 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | . | | | 81 | | |
HP:0001987 | HP:0008281 | Acute hyperammonemia | 1 | MCCC2 CL E G H | 64087 | 6937 | OMIM:210210 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | . | | | 77 | | |
HP:0001987 | HP:0008281 | Acute hyperammonemia | 1 | NAGS CL E G H | 162417 | 17996 | ORPHA:927 | Hyperammonemia due to N-acetylglutamate synthase deficiency | HP:0040283 - Occasional | | | 36 | | |
HP:0001987 | HP:0008281 | Acute hyperammonemia | 1 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247585 | Citrullinemia type II | HP:0040281 - Very frequent | | | 82 | | |