| D008103 |
Liver Cirrhosis |
Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules. |
Cirrhosis, Liver,Fibrosis, Liver,Hepatic Cirrhosis,Liver Fibrosis,Cirrhosis, Hepatic |
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| D008297 |
Male |
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Males |
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| D009154 |
Mutation |
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. |
Mutations |
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| D005294 |
Ferrochelatase |
A mitochondrial enzyme found in a wide variety of cells and tissues. It is the final enzyme in the 8-enzyme biosynthetic pathway of HEME. Ferrochelatase catalyzes ferrous insertion into protoporphyrin IX to form protoheme or heme. Deficiency in this enzyme results in ERYTHROPOIETIC PROTOPORPHYRIA. |
Heme Synthetase,Porphyrin-Metal Chelatase,Protoheme Ferro-Lyase,Zinc Chelatase,Chelatase, Porphyrin-Metal,Chelatase, Zinc,Ferro-Lyase, Protoheme,Porphyrin Metal Chelatase,Protoheme Ferro Lyase,Synthetase, Heme |
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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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| D000208 |
Acute Disease |
Disease having a short and relatively severe course. |
Acute Diseases,Disease, Acute,Diseases, Acute |
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| D000328 |
Adult |
A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. |
Adults |
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| D016031 |
Liver Transplantation |
The transference of a part of or an entire liver from one human or animal to another. |
Grafting, Liver,Hepatic Transplantation,Liver Transplant,Transplantation, Hepatic,Transplantation, Liver,Hepatic Transplantations,Liver Grafting,Liver Transplantations,Liver Transplants,Transplant, Liver |
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| D046351 |
Protoporphyria, Erythropoietic |
An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in both the LIVER and the BONE MARROW, the last enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and COPROPORPHYRINS in the feces. |
Erythropoietic Protoporphyria,Erythrohepatic Protoporphyria,Ferrochelatase Deficiency,Heme Synthetase Deficiency,Deficiencies, Ferrochelatase,Deficiencies, Heme Synthetase,Deficiency, Ferrochelatase,Deficiency, Heme Synthetase,Erythropoietic Protoporphyrias,Ferrochelatase Deficiencies,Heme Synthetase Deficiencies,Protoporphyrias, Erythropoietic,Synthetase Deficiencies, Heme,Synthetase Deficiency, Heme |
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| D058625 |
End Stage Liver Disease |
Final stage of a liver disease when the liver failure is irreversible and LIVER TRANSPLANTATION is needed. |
Chronic Liver Failure,Liver Failure, Chronic,Chronic Liver Failures,Failure, Chronic Liver,Failures, Chronic Liver,Liver Failures, Chronic |
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