Cancers
Immune system diseases
Nervous system diseases
Cardiovascular diseases
Respiratory diseases
Endocrine and metabolic diseases
Digestive system diseases
Urinary system diseases
Reproductive system diseases
Musculoskeletal diseases
Skin diseases
Congenital disorders of metabolism
Congenital disorders of carbohydrate metabolism
Congenital disorders of lipid/glycolipid metabolism
H00149 Neuronal ceroid lipofuscinosis [PATH:hsa00062 hsa04142] H02275 Batten disease [PATH:hsa04142] H02276 Kufs disease [PATH:hsa04141 hsa04142] H02277 Santavuori-Haltia disease [PATH:hsa01212 hsa00062 hsa04142] H02278 Jansky-Bielschowsky disease H02279 Cathepsin D deficiency [PATH:hsa04142 hsa04210 hsa04140] H00407 Peroxisomal beta-oxidation enzyme deficiency [PATH:hsa00120 hsa01040 hsa03320 hsa04146] H00176 Adrenoleukodystrophy [PATH:hsa02010 hsa04146] H00152 Sitosterolemia [PATH:hsa02010] H00153 Familial combined hyperlipidemia H00151 Cerebrotendinous xanthomatosis [PATH:hsa00120 hsa03320] H00155 Familial hypercholesterolemia [PATH:hsa04976 hsa04144] H00154 Hyperlipoproteinemia, type I [PATH:hsa00561 hsa03320] H01383 Hyperlipoproteinemia type IIa [PATH:hsa04144 hsa04913 hsa04976] H00156 Hyperlipoproteinemia, type III H00157 Hyperlipoproteinemia, type V [PATH:hsa03320] H01637 Hypertriglyceridemia H00158 Lecithin:cholesterol acyltransferase deficiency [PATH:hsa00564] H00159 Tangier disease [PATH:hsa02010] H00160 Abetalipoproteinemia H00161 Smith-Lemli-Opitz syndrome [PATH:hsa00100] H00162 Sjogren-Larsson syndrome [PATH:hsa00071] H00736 Dorfman-Chanarin syndrome [PATH:hsa04923] H00148 Lysosomal acid lipase deficiency [PATH:hsa00100 hsa04142] H00134 X-linked ichthyosis [PATH:hsa00140] H00125 Fabry disease [PATH:hsa00600 hsa00603 hsa04142] H00126 Gaucher disease [PATH:hsa00511 hsa00600 hsa04142] H00135 Krabbe disease [PATH:hsa00600 hsa04142] H00137 Niemann-Pick disease type A/B [PATH:hsa00600 hsa04142] H00138 Farber lipogranulomatosis [PATH:hsa00600 hsa04142] H00127 Metachromatic leukodystrophy [PATH:hsa00600 hsa04142] H00272 Multiple sulfatase deficiency [PATH:hsa04142] H00281 GM1 gangliosidosis [PATH:hsa00511 hsa00531 hsa00600 hsa00604 hsa04142] H00124 GM2 gangliosidoses [PATH:hsa00511 hsa00531 hsa00603 hsa00604 hsa04142] H02016 Tay-Sachs disease [PATH:hsa00531 hsa00511] H02017 Sandhoff disease [PATH:hsa00531 hsa00511] H00144 Mucolipidosis IV [PATH:hsa04142] H00146 Alpha-N-acetylgalactosaminidase deficiency [PATH:hsa00603 hsa04142] H00206 Mevalonate kinase deficiency [PATH:hsa00900] H00525 Disorders of mitochondrial fatty-acid oxidation [PATH:hsa00071] H01980 SCAD deficiency [PATH:hsa00071 hsa01212] H00488 MCAD deficiency [PATH:hsa00071 hsa01212] H00489 LCHAD deficiency H00392 VLCAD deficiency [PATH:hsa00071 hsa01212] H00375 SBCAD deficiency [PATH:hsa00071 hsa00280 hsa01212] H01981 Carnitine palmitoyltransferase I deficiency [PATH:hsa00071 hsa01212] H01982 Carnitine palmitoyltransferase II deficiency [PATH:hsa00071 hsa01212] H01983 Carnitine-acylcarnitine translocase deficiency H00438 Nasu-Hakola disease [PATH:hsa04380] H00552 Chromosome Xp21 deletion syndrome H02013 Glycerol kinase deficiency [PATH:hsa00561 hsa03320] H00679 Hypomyelinating leukodystrophy H00869 Leukoencephalopathy with vanishing white matter [PATH:hsa03013] H02200 Leukoencephalopathy, progressive, with ovarian failure H00871 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation [PATH:hsa00970] H00874 Leukoencephalopathy with dystonia and motor neuropathy [PATH:hsa00120 hsa03320 hsa04146] H00875 Megaloencephalic leukoencephalopathy with subcortical cysts H00878 Cystic leukoencephalopathy without megalencephaly H00883 Lipoid proteinosis H00887 Lipoprotein glomerulopathy H00927 Chylomicron retention disease [PATH:hsa04141] H00930 Hypoalphalipoproteinemia [PATH:hsa02010 hsa03320 hsa04975 hsa04977] H01065 Pentosuria [PATH:hsa00040] H01101 Combined lipase deficiency H01126 Familial renal glucosuria H01489 Inherited glycosylphosphatidylinositol deficiencies [PATH:hsa00563] H01127 PIGM-congenital disorder of glycosylation [PATH:hsa00563] H01485 Autosomal recessive mental retardation-42 [PATH:hsa00563] H01486 Multiple congenital anomalies-hypotonia-seizures syndrome [PATH:hsa00563] H01487 CHIME syndrome [PATH:hsa00563] H01488 Hyperphosphatasia with mental retardation syndrome [PATH:hsa00563] H01189 Transaldolase deficiency [PATH:hsa00030] H01199 Hyperalphalipoproteinemia [PATH:hsa03320] H01290 Acute recurrent myoglobinuria [PATH:hsa00561 hsa00564] H01297 Neutral lipid storage disease with myopathy [PATH:hsa04923] H01589 Systemic primary carnitine deficiency H01661 Xanthoma H01784 Primary hyperchylomicronemia H01918 Familial autosomal recessive hypercholesterolemia [PATH:hsa04144] H02284 Leukotriene C4 synthase deficiency [PATH:hsa00590] H02329 Hepatic lipase deficiency [PATH:hsa04979 hsa00561] H02330 Pancreatic lipase deficiency [PATH:hsa04977 hsa04972 hsa00561 hsa04975] H02432 Butyrylcholinesterase deficiency H02468 Early childhood-onset progressive leukodystrophy [PATH:hsa00600]
Congenital disorders of glycan/glycoprotein metabolism
Congenital disorders of amino acid metabolism
Congenital disorders of nucleotide metabolism
Congenital disorders of cofactor/vitamin metabolism
Congenital disorders of ion transport and metabolism
Lysosomal storage diseases
Peroxisomal diseases
Mitochondrial diseases
Other congenital disorders of metabolism
Congenital malformations
Other congenital disorders
Other diseases