ORPHA:79196
Disorder of the gamma-glutamyl cycle
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- 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 | Disorder of the gamma-glutamyl cycle | |
| fr | Trouble du cycle du gamma-glutamyl | Anomalie du cycle du gamma-glutamyl |
| de | Gamma-Glutamyl-Zyklus-Störung | |
| es | Enfermedad del ciclo de la gamma-glutamil | |
| it | Malattia del ciclo del gamma-glutamile | |
| nl | Stoornis van gamma-glutamylcyclus | |
| pt | Doença do ciclo da gama-glutamil | |
| pl | Zaburzenie cyklu gamma-glutamylowego | |
| cs | Poruchy gamaglutamylového cyklu | |
| uk | Порушення гамма-глутамілового циклу | |
| zh | γ-谷氨酰基循环异常 | |
| tr | Gama-glutamil döngüsü bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5C50.5 | E | specific | validated |
| MONDO | 0019241 | E | validated | |
| MONDO | 19241 | E | validated | |
| UMLS | C0268517 | 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:79062Disorder of amino acid and other organic acid metabolism
rare inborn errors of metabolism; rare genetic diseases
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/79196
- This record as JSON: /data/d/79196.json