loading...| Preferred Name |
porphyria |
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| Synonyms |
Porphyria NOS (disorder) Porphyrinopathy (disorder) Disorders of porphyrin metabolism disorder of porphyrin metabolism Porphyrinopathy porphyria porphyrias Porphyria NOS disorder of porphyrin and hem metabolism Disorder of porphyrin and heme metabolism Disorder of porphyrin metabolism, NOS DIS PORPHYRIN METABOLISM Disorder of porphyrin metabolism (disorder) Disorders of porphyrin metabolism (disorder) Disorder of porphyrin and haem metabolism Porphyria (disorder) Hematoporphyria |
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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 |
Porphyria NOS (disorder) Porphyrinopathy (disorder) Disorders of porphyrin metabolism disorder of porphyrin metabolism Porphyrinopathy porphyria porphyrias Porphyria NOS disorder of porphyrin and hem metabolism Disorder of porphyrin and heme metabolism Disorder of porphyrin metabolism, NOS DIS PORPHYRIN METABOLISM Disorder of porphyrin metabolism (disorder) Disorders of porphyrin metabolism (disorder) Disorder of porphyrin and haem metabolism Porphyria (disorder) Hematoporphyria |
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| definition source |
SNOMEDCT:190916001 SNOMEDCT:29094004 SNOMEDCT:371628009 GeneRIF:16026339 ICD9:277.1 MSH:D011164 DOID:13268 |
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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 |
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