Human Diseases

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 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]
     H00601  Hutchinson-Gilford progeria syndrome
     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

Last updated: February 25, 2021

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