ORPHA:68373
Peroxisomal disease
- Type
- Category
- 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Peroxisomal disease | |
| fr | Maladie péroxysomale | |
| de | Peroxisomale Krankheit | |
| es | Enfermedad peroxisomal | |
| it | Malattia perossisomiale | |
| nl | Peroxisomale ziekte | |
| pt | Doença peroxissomal | |
| pl | Choroba peroksysomalna | |
| cs | Peroxizomální porucha | |
| uk | Пероксисомна хвороба | |
| zh | 过氧化物酶体病 | |
| tr | Peroksizomal hastalık |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5C57 | E | specific | validated |
| MONDO | 0019053 | E | validated | |
| MONDO | 19053 | E | validated | |
| MeSH | D018901 | E | validated | |
| UMLS | C0282528 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:68367Rare inborn error of metabolism
rare inborn errors of metabolism; rare genetic diseases
Children (8):
- ORPHA:247815Autosomal recessive ataxia due to PEX10 deficiency
- ORPHA:642954Autosomal recessive ataxia due to PEX16 deficiency
- ORPHA:642965Autosomal recessive ataxia due to PEX2 deficiency
- ORPHA:95433Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
- ORPHA:369942CADDS
- ORPHA:309810Disorder of peroxisomal alpha-, beta- and omega-oxidation
- ORPHA:3276Disorder of plasmalogens biosynthesis
- ORPHA:79189Peroxisome biogenesis disorder
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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/68373
- This record as JSON: /data/d/68373.json