| Metadata | |
|---|---|
| ID | DOID:13268 |
| Name | porphyria |
| Definition | An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. http://en.wikipedia.org/wiki/Porphyria#Subtypes |
| Xrefs |
SNOMEDCT_US_2023_03_01:190912004 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
disorder of porphyrin and hem metabolism [EXACT] disorder of porphyrin metabolism [EXACT] Hematoporphyria [EXACT] Porphyrinopathy [EXACT] |
| Parent Relationships |