| D008107 |
Liver Diseases |
Pathological processes of the LIVER. |
Liver Dysfunction,Disease, Liver,Diseases, Liver,Dysfunction, Liver,Dysfunctions, Liver,Liver Disease,Liver Dysfunctions |
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| D011164 |
Porphyrias |
A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues. |
Porphyria,Porphyrin Disorder,Disorder, Porphyrin,Disorders, Porphyrin,Porphyrin Disorders |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| D000623 |
Porphobilinogen Synthase |
An enzyme that catalyzes the formation of porphobilinogen from two molecules of 5-aminolevulinic acid. EC 4.2.1.24. |
Aminolevulinate Hydro-Lyase,Aminolevulinic Acid Dehydratase,ALA-Dehydrase,delta-Aminolevulinate Dehydratase,delta-Aminolevulinic Acid Dehydratase,ALA Dehydrase,Acid Dehydratase, Aminolevulinic,Acid Dehydratase, delta-Aminolevulinic,Aminolevulinate Hydro Lyase,Dehydratase, Aminolevulinic Acid,Dehydratase, delta-Aminolevulinate,Dehydratase, delta-Aminolevulinic Acid,Hydro-Lyase, Aminolevulinate,Synthase, Porphobilinogen,delta Aminolevulinate Dehydratase,delta Aminolevulinic Acid Dehydratase |
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| D017094 |
Porphyrias, Hepatic |
A group of metabolic diseases due to deficiency of one of a number of LIVER enzymes in the biosynthetic pathway of HEME. They are characterized by the accumulation and increased excretion of PORPHYRINS or its precursors. Clinical features include neurological symptoms (PORPHYRIA, ACUTE INTERMITTENT), cutaneous lesions due to photosensitivity (PORPHYRIA CUTANEA TARDA), or both (HEREDITARY COPROPORPHYRIA). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues. |
Hepatic Porphyria,Porphyria, Hepatic,Hepatic Porphyrias |
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