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Cell Culture Ontology
Last uploaded:
July 23, 2014
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| Id | http://www.ebi.ac.uk/efo/EFO_0000665
http://www.ebi.ac.uk/efo/EFO_0000665
|
|---|---|
| Preferred Name | obsolete_porphyria |
| 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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| Synonyms |
Porphyrinopathy (disorder)
Porphyria (disorder)
Disorder of porphyrin metabolism, NOS
Disorder of porphyrin metabolism
DIS PORPHYRIN METABOLISM
disorder of porphyrin metabolism (disorder)
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
Porphyrias
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|
| Obsolete | true |
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | 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. |
|---|---|
| preferred label |
obsolete_porphyria
|
| label |
obsolete_porphyria
|
| prefLabel |
obsolete_porphyria
|
| database_cross_reference |
SNOMEDCT:371628009
SNOMEDCT:190916001
SNOMEDCT:29094004
MeSH:D011164
DOID:13268
ICD9:277.1
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| organizational_class |
true
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| term editor |
James Malone
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| reason_for_obsolescence |
use 'http://www.orpha.net/ORDO/Orphanet_738' instead.
New Label : Porphyria
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| prefixIRI |
efo:EFO_0000665
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| subClassOf | |
| obsoleted_in_version |
2.32
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| deprecated |
true
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| type | |
| term replaced by | |
| has_exact_synonym |
Porphyrinopathy (disorder)
Porphyria (disorder)
Disorder of porphyrin metabolism, NOS
Disorder of porphyrin metabolism
DIS PORPHYRIN METABOLISM
disorder of porphyrin metabolism (disorder)
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
Porphyrias
See more
See less
|
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