Porphyrias
Disease ID: disease_node_6271
Connections displayed (default: 10).
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| Dbxref | GARD:10353, ICD10CM:E80.20, ICD9CM:277.1, MESH:D011164, NCI:C97096, SNOMEDCT_US_2023_03_01:190912004, UMLS_CUI:C0032708 |
|---|---|
| Subclassof | DOID_655 |
| Data Source | DOID, MESH |
| Synonyms | Hematoporphyria, Porphyrinopathy, disorder of porphyrin and hem metabolism, disorder of porphyrin metabolism |
| Mesh Id | D011164 |
| Mesh Label | Porphyrias |
| Mesh Subclassof | D008659 |
| Doid Label | porphyria |
| Doid Description | An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. |
| Disease Node Id | disease_node_6271 |
| Doid Id | DOID_13268 |
| Label | Porphyrias |
- Outgoing r'ship
SUBCLASS_OFto/from Metabolism, Inborn Errors(ID:disease_node_5171) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Porphyrias, Hepatic(ID:disease_node_9037) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Porphyria, Erythropoietic(ID:disease_node_9033) (Disease)