loading...| Preferred Name |
congenital hepatic porphyria |
|
| Synonyms |
porphyria intermittent acute |
|
| 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. |
|
| ID |
http://purl.bioontology.org/ontology/CSP/1849-7674 |
|
| altLabel |
porphyria intermittent acute porphyria cutanea tarda acute intermittent porphyria hereditary coproporphyria porphyria |
|
| cui |
C0162566 C0687708 C0162565 C0162531 |
|
| 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. |
|
| DID |
1849-7674 |
|
| Inverse of RB |
http://purl.bioontology.org/ontology/CSP/1849-7403 |
|
| notation |
1849-7674 |
|
| prefLabel |
congenital hepatic porphyria |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/CSP/1849-7403 |