ORPHA:308451
Disorder of neutral 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Disorder of neutral amino acid transport | |
| fr | Trouble du transport des acides aminés neutres | |
| de | Transportstörung neutraler Aminosäuren | |
| es | Trastornos del transporte de aminoácidos neutros | |
| it | Difetto del trasporto degli amminoacidi neutri | |
| nl | Stoornis van transport van neutrale aminozuren | |
| pt | Alteração do transporte de aminoácidos neutros | |
| pl | Zaburzenie transportu neutralnych aminokwasów | |
| cs | Poruchy transportu neutrálních aminokyselin | |
| uk | Порушення транспорту нейтральних амінокислот | |
| zh | 中性氨基酸转移紊乱 | |
| tr | Nötral amino asit taşınması bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0017687 | E | validated | |
| MONDO | 17687 | E | validated | |
| UMLS | C5848149 | 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:79166Disorder of amino acid absorption and transport
rare inborn errors of metabolism; rare genetic diseases
Children (2):
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/308451
- This record as JSON: /data/d/308451.json