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
     H00194  Lesch-Nyhan syndrome [PATH:hsa00230]
     H00195  Adenine phosphoribosyltransferase deficiency [PATH:hsa00230]
     H00197  Adenylosuccinate lyase deficiency [PATH:hsa00230 hsa00250]
     H00192  Xanthinuria [PATH:hsa00230 hsa04122]
     H00196  Phosphoribosylpyrophosphate synthetase superactivity [PATH:hsa00030 hsa00230]
     H00198  Orotic aciduria [PATH:hsa00240]
     H00193  Dihydropyrimidine dehydrogenase deficiency [PATH:hsa00240 hsa00983]
     H00199  Dihydropyrimidinase deficiency [PATH:hsa00240 hsa00983]
     H00200  Beta-ureidopropionase deficiency [PATH:hsa00240 hsa00983]
     H00964  Thiopurine S-methyltransferase deficiency (TPMT deficiency) [PATH:hsa00983]
     H00966  AICA-ribosiduria [PATH:hsa00230 hsa00670]
     H01135  Ribose 5-phosphate isomerase deficiency [PATH:hsa00030]
     H02237  AMP deaminase deficiency [PATH:hsa00230]
     H02433  Hypomyelination with brainstem and spinal cord involvement and leg spasticity [PATH:hsa00970]
   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: January 15, 2021

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