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
   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
     H00418  Bardet-Biedl syndrome
     H00419  Congenital generalized lipodystrophy
     H00420  Familial partial lipodystrophy [PATH:hsa03320 hsa04910 hsa04371 hsa04923]
     H00759  Waardenburg syndrome [PATH:hsa04916 hsa04520 hsa04020 hsa04080 hsa04916]
     H00967  Adiponectin deficiency [PATH:hsa03320 hsa04920 hsa04930]
     H00988  Enterokinase deficiency
     H01108  CD36 deficiency [PATH:hsa03320 hsa04145 hsa04920 hsa04975]
     H01168  Sea-blue histiocyte disease
     H01193  Familial tumoral calcinosis [PATH:hsa00512 hsa04010 hsa04810 hsa00040 hsa00500 hsa04961]
     H01171  Poor drug metabolism [PATH:hsa00982]
     H01205  Coumarin resistance [PATH:hsa00982]
     H01210  Hypomagnesemia [PATH:hsa04978 hsa04510 hsa04514 hsa04530 hsa04540]
     H00245  Calcium sensing receptor (CASR) related disease
     H01371  Hypercalcemia infantile [PATH:hsa00100]
     H01230  Adult-onset autosomal dominant leukodystrophy
     H01231  Biotin-responsive basal ganglia disease [PATH:hsa04977]
     H01234  Trimethylaminuria [PATH:hsa00982]
     H01248  Erythrocyte lactate transporter defect
     H01249  Ethylmalonic encephalopathy
     H01266  Hypercarotenemia and vitamin A deficiency [PATH:hsa00830]
     H01267  Familial hyperinsulinemic hypoglycemia [PATH:hsa00010 hsa00071 hsa00471 hsa02010 hsa04910 hsa04930]
     H01268  Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
     H01270  Familial hypobetalipoproteinemia [PATH:hsa04975 hsa04977]
     H01474  Acquired generalized lipodystrophy
     H01475  Lipodystrophy
     H01909  Hypoinsulinemic hypoglycemia with hemihypertrophy [PATH:hsa04150 hsa04151]
     H01936  Hyperbiliverdinemia [PATH:hsa00860]
     H02152  Transient familial neonatal hyperbilirubinemia
     H02181  Idiopathic hyperCKemia [PATH:hsa04144 hsa04510]
     H02236  Keppen-Lubinsky syndrome
 Congenital malformations
 Other congenital disorders
 Other diseases

Last updated: November 20, 2020

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