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Last uploaded:
September 25, 2013
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| Id | http://purl.bioontology.org/ontology/CSP/1849-7674
http://purl.bioontology.org/ontology/CSP/1849-7674
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|---|---|
| Preferred Name | congenital hepatic porphyria |
| Definitions |
disorders characterized by the liver excessively producing porphyrins or their precursors, arising from abnormalities in the regulation of the porphyrin-heme pathway existing at, and usually before, birth regardless of causation; porphyria, acute intermittent and porphyria cutanea tarda are types of hepatic porphyria.
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| Synonyms |
porphyria intermittent acute
porphyria cutanea tarda
acute intermittent porphyria
hereditary coproporphyria porphyria
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | disorders characterized by the liver excessively producing porphyrins or their precursors, arising from abnormalities in the regulation of the porphyrin-heme pathway existing at, and usually before, birth regardless of causation; porphyria, acute intermittent and porphyria cutanea tarda are types of hepatic porphyria. |
|---|---|
| altLabel |
porphyria intermittent acute
porphyria cutanea tarda
acute intermittent porphyria
hereditary coproporphyria porphyria
|
| prefLabel |
congenital hepatic porphyria
|
| DID |
1849-7674
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| notation |
1849-7674
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| Inverse of RB | |
| subClassOf | |
| Semantic type UMLS property | |
| type | |
| tui |
T047
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| cui |
C0162566
C0687708
C0162565
C0162531
|
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