 Cancers
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Immune system diseases
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Nervous system diseases
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Cardiovascular diseases
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Respiratory diseases
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Endocrine and metabolic diseases
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Digestive system diseases
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Urinary system diseases
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Reproductive system diseases
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Musculoskeletal diseases
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Skin diseases
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 Congenital disorders of metabolism
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Congenital disorders of carbohydrate metabolism
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Congenital disorders of lipid/glycolipid metabolism
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Congenital disorders of glycan/glycoprotein metabolism
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Congenital disorders of amino acid metabolism
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Congenital disorders of nucleotide metabolism
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 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]
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Congenital disorders of cofactor/vitamin metabolism
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Congenital disorders of ion transport and metabolism
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Lysosomal storage diseases
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Peroxisomal diseases
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Mitochondrial diseases
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Other congenital disorders of metabolism
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Congenital malformations
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Other congenital disorders
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Other diseases
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Human Diseases