| SMPDB ID |
Name |
Link |
| SMP00356 |
17-Beta Hydroxysteroid Dehydrogenase III Deficiency |
|
| SMP00136 |
2-Hydroxyglutric Aciduria (D And L Form) |
|
| SMP00137 |
2-Methyl-3-Hydroxybutryl CoA Dehydrogenase Deficiency |
|
| SMP00138 |
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency |
|
| SMP00237 |
3-Methylcrotonyl Coa Carboxylase Deficiency Type I |
|
| SMP00139 |
3-Methylglutaconic Aciduria Type I |
|
| SMP00140 |
3-Methylglutaconic Aciduria Type III |
|
| SMP00141 |
3-Methylglutaconic Aciduria Type IV |
|
| SMP00243 |
4-Hydroxybutyric Aciduria/Succinic Semialdehyde Dehydrogenase Deficiency |
|
| SMP00143 |
5-Oxoprolinuria |
|
| SMP00344 |
Acute Intermittent Porphyria |
|
| SMP00144 |
Adenosine Deaminase Deficiency |
|
| SMP00167 |
Adenylosuccinate Lyase Deficiency |
|
| SMP00373 |
Adrenal Hyperplasia Type 3 or Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency |
|
| SMP00372 |
Adrenal Hyperplasia Type 5 or Congenital Adrenal Hyperplasia due to 17 Alpha-hydroxylase Deficiency |
|
| SMP00168 |
AICA-Ribosiduria |
|
| SMP00169 |
Alkaptonuria |
|
| SMP00362 |
Arginine: Glycine Amidinotransferase Deficiency (AGAT Deficiency) |
|
| SMP00357 |
Argininemia |
|
| SMP00003 |
Argininosuccinic Aciduria |
|
| SMP00170 |
Aromatic L-Aminoacid Decarboxylase Deficiency |
|
| SMP00171 |
Aspartylglucosaminuria |
|
| SMP00172 |
Beta Ureidopropionase Deficiency |
|
| SMP00173 |
Beta-Ketothiolase Deficiency |
|
| SMP00174 |
Biotinidase Deficiency |
|
| SMP00175 |
Canavan Disease |
|
| SMP00002 |
Carbamoyl Phosphate Synthetase Deficiency |
|
| SMP00315 |
Cerebrotendinous Xanthomatosis (CTX) |
|
| SMP00387 |
CHILD Syndrome |
|
| SMP00388 |
Chondrodysplasia Punctata II, X Linked Dominant (CDPX2) |
|
| SMP00001 |
Citrullinemia Type I |
|
| SMP00314 |
Congenital Bile Acid Synthesis Defect Type II |
|
| SMP00318 |
Congenital Bile Acid Synthesis Defect Type III |
|
| SMP00345 |
Congenital Erythropoietic Porphyria (CEP) or Gunther Disease |
|
| SMP00371 |
Congenital Lipoid Adrenal Hyperplasia (CLAH) or Lipoid CAH |
|
| SMP00177 |
Cystathionine Beta-Synthase Deficiency |
|
| SMP00386 |
Desmosterolosis |
|
| SMP00178 |
Dihydropyrimidinase Deficiency |
|
| SMP00179 |
Dihydropyrimidine Dehydrogenase Deficiency (DHPD) |
|
| SMP00242 |
Dimethylglycine Dehydrogenase Deficiency |
|
| SMP00181 |
Ethylmalonic Encephalopathy |
|
| SMP00317 |
Familial Hypercholanemia (FHCA) |
|
| SMP00351 |
GABA-Transaminase Deficiency |
|
| SMP00182 |
Galactosemia |
|
| SMP00183 |
Gamma-Glutamyltransferase Deficiency |
|
| SMP00349 |
Gaucher Disease |
|
| SMP00348 |
Globoid Cell Leukodystrophy |
|
| SMP00245 |
Glucose Transporter Defect (SGLT2) |
|
| SMP00185 |
Glutaric Aciduria Type I |
|
| SMP00186 |
Glutaric Aciduria Type III |
|
| SMP00337 |
Glutathione Synthetase Deficiency |
|
| SMP00187 |
Glycerol Kinase Deficiency |
|
| SMP00222 |
Glycine N-methyltransferase Deficiency |
|
| SMP00374 |
Glycogen Storage Disease Type 1A (GSD1A) or Von Gierke Ddisease |
|
| SMP00365 |
Gout or Kelley-Seegmiller Syndrome |
|
| SMP00188 |
Guanidinoacetate Methyltransferase Deficiency (GAMT Deficiency) |
|
| SMP00189 |
Hartnup Disorder |
|
| SMP00190 |
Hawkinsinuria |
|
| SMP00342 |
Hereditary Coproporphyria (HCP) |
|
| SMP00191 |
Histidinemia |
|
| SMP00385 |
Homocarnosinosis |
|
| SMP00339 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
| SMP00341 |
Hypermethioninemia |
|
| SMP00361 |
Hyperprolinemia Type I |
|
| SMP00360 |
Hyperprolinemia Type II |
|
| SMP00192 |
Hypoacetylaspartia |
|
| SMP00193 |
Iminoglycinuria |
|
| SMP00238 |
Isovaleric Aciduria |
|
| SMP00313 |
Lactic Acidemia |
|
| SMP00458 |
Lactose Intolerance |
|
| SMP00196 |
Leigh Syndrome |
|
| SMP00364 |
Lesch-Nyhan Syndrome (LNS) |
|
| SMP00353 |
Leukotriene C4 Synthesis Deficiency |
|
| SMP00197 |
Lysinuric Protein Intolerance |
|
| SMP00319 |
Lysosomal Acid Lipase Deficiency (Wolman Disease) |
|
| SMP00198 |
Malonic Aciduria |
|
| SMP00199 |
Maple Syrup Urine Disease |
|
| SMP00347 |
Metachromatic Leukodystrophy (MLD) |
|
| SMP00221 |
Methionine Adenosyltransferase Deficiency |
|
| SMP00340 |
Methylenetetrahydrofolate Reductase Deficiency (MTHFRD) |
|
| SMP00384 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
| SMP00200 |
Methylmalonic Aciduria |
|
| SMP00201 |
Methylmalonic Aciduria Due to Cobalamin-Related Disorders |
|
| SMP00202 |
MNGIE (Mitochondrial Neurogastrointestinal Encephalopathy) |
|
| SMP00203 |
Molybdenium Cofactor Deficiency |
|
| SMP00223 |
Non Ketotic Hyperglycinemia |
|
| SMP00383 |
Obesity / Metabolic Syndrome |
|
| SMP00363 |
Ornithine Aminotransferase Deficiency (OAT Deficiency) |
|
| SMP00205 |
Ornithine Transcarbamylase Deficiency (OTC Deficiency) |
|
| SMP00206 |
Phenylketonuria |
|
| SMP00346 |
Porphyria Variegata (PV) |
|
| SMP00352 |
Primary Hyperoxaluria Type I |
|
| SMP00207 |
Prolidase Deficiency(PD) |
|
| SMP00208 |
Prolinemia Type II |
|
| SMP00236 |
Propionic Acidemia |
|
| SMP00210 |
Purine Nucleoside Phosphorylase Deficiency |
|
| SMP00350 |
Pyruvate Carboxylase Deficiency |
|
| SMP00334 |
Pyruvate Decarboxylase E1 Component Deficiency (PDHE1 Deficiency) |
|
| SMP00212 |
Pyruvate Dehydrogenase Complex Deficiency |
|
| SMP00451 |
Refsum Disease |
|
| SMP00184 |
Renal Glucosuria |
|
| SMP00214 |
S-Adenosylhomocysteine (SAH) Hydrolase Deficiency |
|
| SMP00239 |
Saccharopinuria/Hyperlysinemia II |
|
| SMP00240 |
Salla Disease/Infantile Sialic Acid Storage Disease |
|
| SMP00244 |
Sarcosinemia |
|
| SMP00235 |
Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD Deficiency) |
|
| SMP00215 |
Sialidosis |
|
| SMP00216 |
Sialuria or French Type Sialuria |
|
| SMP00389 |
Smith-Lemli-Opitz Syndrome (SLOS) |
|
| SMP00369 |
Tyrosinemia Type 2 (or Richner-Hanhart syndrome) |
|
| SMP00370 |
Tyrosinemia Type 3 (TYRO3) |
|
| SMP00218 |
Tyrosinemia Type I |
|
| SMP00219 |
UMP Synthase Deiciency (Orotic Aciduria) |
|
| SMP00336 |
Vitamin A Deficiency |
|
| SMP00220 |
Xanthine Dehydrogenase Deficiency (Xanthinuria) |
|
| SMP00316 |
Zellweger Syndrome |
|
| SMPDB ID |
Name |
Link |
| SMP00055 |
Alanine Metabolism |
|
| SMP00018 |
Alpha Linolenic Acid and Linoleic Acid Metabolism |
|
| SMP00045 |
Amino Sugar Metabolism |
|
| SMP00009 |
Ammonia Recycling |
|
| SMP00068 |
Androgen and Estrogen Metabolism |
|
| SMP00075 |
Arachidonic Acid Metabolism |
|
| SMP00020 |
Arginine and Proline Metabolism |
|
| SMP00067 |
Aspartate Metabolism |
|
| SMP00052 |
Beta Oxidation of Very Long Chain Fatty Acids |
|
| SMP00007 |
Beta-Alanine Metabolism |
|
| SMP00123 |
Betaine Metabolism |
|
| SMP00035 |
Bile Acid Biosynthesis |
|
| SMP00066 |
Biotin Metabolism |
|
| SMP00073 |
Butyrate Metabolism |
|
| SMP00028 |
Caffeine Metabolism |
|
| SMP00465 |
Carnitine Synthesis |
|
| SMP00012 |
Catecholamine Biosynthesis |
|
| SMP00057 |
Citric Acid Cycle |
|
| SMP00013 |
Cysteine Metabolism |
|
| SMP00036 |
D-Arginine and D-Ornithine Metabolism |
|
| SMP00468 |
Degradation of Superoxides |
|
| SMP00477 |
DNA Replication Fork |
|
| SMP00449 |
Ethanol Degradation |
|
| SMP00456 |
Fatty Acid Biosynthesis |
|
| SMP00054 |
Fatty Acid Elongation In Mitochondria |
|
| SMP00051 |
Fatty acid Metabolism |
|
| SMP00053 |
Folate Metabolism |
|
| SMP00064 |
Fructose and Mannose Degradation |
|
| SMP00043 |
Galactose Metabolism |
|
| SMP00128 |
Gluconeogenesis |
|
| SMP00127 |
Glucose-Alanine Cycle |
|
| SMP00072 |
Glutamate Metabolism |
|
| SMP00015 |
Glutathione Metabolism |
|
| SMP00124 |
Glycerol Phosphate Shuttle |
|
| SMP00039 |
Glycerolipid Metabolism |
|
| SMP00004 |
Glycine and Serine Metabolism |
|
| SMP00040 |
Glycolysis |
|
| SMP00044 |
Histidine Metabolism |
|
| SMP00455 |
Homocysteine Degradation |
|
| SMP00011 |
Inositol Metabolism |
|
| SMP00462 |
Inositol Phosphate Metabolism |
|
| SMP00071 |
Ketone Body Metabolism |
|
| SMP00457 |
Lactose Degradation |
|
| SMP00444 |
Lactose Synthesis |
|
| SMP00037 |
Lysine Degradation |
|
| SMP00129 |
Malate-Aspartate Shuttle |
|
| SMP00033 |
Methionine Metabolism |
|
| SMP00482 |
Mitochondrial Beta-Oxidation of Long Chain Saturated Fatty Acids |
|
| SMP00481 |
Mitochondrial Beta-Oxidation of Medium Chain Saturated Fatty Acids |
|
| SMP00480 |
Mitochondrial Beta-Oxidation of Short Chain Saturated Fatty Acids |
|
| SMP00355 |
Mitochondrial Electron Transport Chain |
|
| SMP00048 |
Nicotinate and Nicotinamide Metabolism |
|
| SMP00478 |
Nucleotide Excision Repair |
|
| SMP00010 |
Nucleotide Sugars Metabolism |
|
| SMP00030 |
Oxidation of Branched Chain Fatty Acids |
|
| SMP00027 |
Pantothenate and CoA Biosynthesis |
|
| SMP00031 |
Pentose Phosphate Pathway |
|
| SMP00126 |
Phenylacetate Metabolism |
|
| SMP00008 |
Phenylalanine and Tyrosine Metabolism |
|
| SMP00463 |
Phosphatidylinositol Phosphate Metabolism |
|
| SMP00025 |
Phospholipid Biosynthesis |
|
| SMP00450 |
Phytanic Acid Peroxisomal Oxidation |
|
| SMP00479 |
Plasmalogen Synthesis |
|
| SMP00016 |
Propanoate Metabolism |
|
| SMP00005 |
Pterine Biosynthesis |
|
| SMP00050 |
Purine Metabolism |
|
| SMP00046 |
Pyrimidine Metabolism |
|
| SMP00459 |
Pyruvaldehyde Degradation |
|
| SMP00060 |
Pyruvate Metabolism |
|
| SMP00074 |
Retinol Metabolism |
|
| SMP00070 |
Riboflavin Metabolism |
|
| SMP00029 |
Selenoamino Acid Metabolism |
|
| SMP00445 |
Spermidine and Spermine Biosynthesis |
|
| SMP00034 |
Sphingolipid Metabolism |
|
| SMP00058 |
Starch and Sucrose Metabolism |
|
| SMP00023 |
Steroid Biosynthesis |
|
| SMP00130 |
Steroidogenesis |
|
| SMP00041 |
Sulfate/Sulfite Metabolism |
|
| SMP00021 |
Taurine and Hypotaurine Metabolism |
|
| SMP00076 |
Thiamine Metabolism |
|
| SMP00452 |
Threonine and 2-Oxobutanoate Degradation |
|
| SMP00019 |
Transcription/Translation |
|
| SMP00466 |
Transfer of Acetyl Groups into Mitochondria |
|
| SMP00063 |
Tryptophan Metabolism |
|
| SMP00006 |
Tyrosine Metabolism |
|
| SMP00065 |
Ubiquinone Biosynthesis |
|
| SMP00059 |
Urea Cycle |
|
| SMP00032 |
Valine, Leucine and Isoleucine Degradation |
|
| SMP00017 |
Vitamin B6 Metabolism |
|
| SMP00464 |
Vitamin K Metabolism |
|