Protoporphyria, Erythropoietic
Disease ID: disease_node_11290
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| Dbxref | GARD:4527, ICD10CM:E80.0, MESH:D046351, MIM:177000, MIM:300752, NCI:C84698, ORDO:79278, SNOMEDCT_US_2023_03_01:51022005, UMLS_CUI:C0162568 |
|---|---|
| Subclassof | DOID_3133 |
| Data Source | DOID, MESH |
| Synonyms | EPP, Protoporphyria |
| Mesh Id | D046351 |
| Mesh Label | Protoporphyria, Erythropoietic |
| Mesh Subclassof | D017094 |
| Doid Label | erythropoietic protoporphyria |
| Doid Description | An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_11290 |
| Doid Id | DOID_13270 |
| Label | Protoporphyria, Erythropoietic |
- Outgoing r'ship
SUBCLASS_OFto/from Porphyrias, Hepatic(ID:disease_node_9037) (Disease)