loading...| Preferred Name | porphyria | |
| Synonyms |
Porphyrinopathy (disorder) Porphyria (disorder) Disorder of porphyrin metabolism (disorder) disorder of porphyrin metabolism Disorder of porphyrin metabolism, NOS DIS PORPHYRIN METABOLISM Hematoporphyria Porphyria NOS Disorder of porphyrin and heme metabolism Porphyrinopathy Disorder of porphyrin and haem metabolism disorder of porphyrin and hem metabolism Disorders of porphyrin metabolism (disorder) Porphyria NOS (disorder) Disorders of porphyrin metabolism porphyria porphyrias |
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| Definitions |
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. |
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| ID |
http://www.ebi.ac.uk/efo/EFO_0000665 |
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| comment |
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. |
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| alternative term |
Porphyrinopathy (disorder) Porphyria (disorder) Disorder of porphyrin metabolism (disorder) disorder of porphyrin metabolism Disorder of porphyrin metabolism, NOS DIS PORPHYRIN METABOLISM Hematoporphyria Porphyria NOS Disorder of porphyrin and heme metabolism Porphyrinopathy Disorder of porphyrin and haem metabolism disorder of porphyrin and hem metabolism Disorders of porphyrin metabolism (disorder) Porphyria NOS (disorder) Disorders of porphyrin metabolism porphyria porphyrias |
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| definition source |
SNOMEDCT:371628009 SNOMEDCT:190916001 MSH:D011164 GeneRIF:16026339 SNOMEDCT:29094004 DOID:13268 ICD9:277.1 |
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| label |
porphyria |
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| prefixIRI |
efo:EFO_0000665 |
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| prefLabel |
porphyria |
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| see also | ||
| term editor |
James Malone |
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| subClassOf |