ORPHA:659681
Erythropoietic porphyria
Synonyms: EPP
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Erythropoietic porphyria | EPP |
| fr | Porphyrie érythropoïétique | |
| de | Erythropoetische Porphyrie | = en |
| es | Porfiria eritropoyética | PEP |
| it | Porfiria eritropoietica | = en |
| nl | Erytropoëtische porfyrie | = en |
| pt | Porfiria eritropoiética | = en |
| pl | Porfiria erytropoetyczna | = en |
| cs | Erytropoetická porfyrie | = en |
| uk | Еритропоетична порфірія | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 1676 | E | validated | |
| UMLS | C0162530 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:738Porphyria
rare inborn errors of metabolism; rare genetic diseases; rare skin diseases; rare renal diseases
Children (6):
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/659681
- This record as JSON: /data/d/659681.json