ORPHA:79207
Disorder of lysosomal amino acid transport
- 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 | Disorder of lysosomal amino acid transport | |
| fr | Anomalie de transport lysosomal des acides aminés | |
| de | Lysosomaler Aminosäure-Transportdefekt | |
| es | Trastornos del transporte lisosomal de los aminoácidos | |
| it | Difetto del trasporto lisosomiale degli aminoacidi | |
| nl | Stoornis van lysosomaal aminozuurtransport | |
| pt | Defeito no transporte lisossomal | |
| pl | Zaburzenie transportu lizosomalnych aminokwasów | |
| cs | Porucha lysosomálního transportu aminokyselin | |
| uk | Порушення лізосомального транспорту амінокислот | |
| zh | 溶酶体氨基酸转运异常 | |
| tr | Lizozomal amino asit taşınması bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0019246 | E | validated | |
| MONDO | 19246 | E | validated | |
| UMLS | C5681276 | 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:68366Lysosomal disease
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/79207
- This record as JSON: /data/d/79207.json