ORPHA:79062
Disorder of amino acid and other organic acid metabolism
- 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 amino acid and other organic acid metabolism | |
| fr | Trouble du métabolisme des acides aminés et autres acides organiques | |
| de | Aminosäure/organische Säuren-Stoffwechselstörung | |
| es | Trastornos del metabolismo de los aminoácidos y otros ácidos orgánicos | |
| it | Difetto del metabolismo degli aminoacidi o di altri acidi organici | |
| nl | Stoornis van metabolisme van aminozuren en andere organische zuren | |
| pt | Doença do metabolismo dos aminoácidos ou proteínas | |
| pl | Zaburzenie metabolizmu aminokwasów i innych kwasów organicznych | |
| cs | Porucha metabolismu aminokyselin a jiných organických kyselin | |
| uk | Порушення обміну амінокислот та інших органічних кислот | |
| zh | 氨基酸及其他有机酸代谢紊乱 | |
| tr | Amino asit ve diğer organik asit metabolizmasında bozukluk |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0019189 | E | validated | |
| MONDO | 19189 | E | validated | |
| UMLS | C0342666 | 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:68367Rare inborn error of metabolism
rare inborn errors of metabolism; rare genetic diseases
Children (18):
- ORPHA:79166Disorder of amino acid absorption and transport
- ORPHA:391381Disorder of asparagine metabolism
- ORPHA:308407Disorder of beta and omega amino acid metabolism
- ORPHA:79197Disorder of branched-chain amino acid metabolism
- ORPHA:289841Disorder of glutamine metabolism
- ORPHA:79181Disorder of histidine metabolism
- ORPHA:289832Disorder of lysine and hydroxylysine metabolism
- ORPHA:352728Disorder of melanin metabolism
- ORPHA:79173Disorder of methionine cycle and sulfur amino acid metabolism
- ORPHA:79185Disorder of ornithine or proline metabolism
- ORPHA:79187Disorder of peptide metabolism
- ORPHA:79190Disorder of phenylalanin or tyrosine metabolism
- ORPHA:79194Disorder of serine or glycine metabolism
- ORPHA:79196Disorder of the gamma-glutamyl cycle
- ORPHA:289829Disorder of tryptophan metabolism
- ORPHA:79167Disorder of urea cycle metabolism and ammonia detoxification
- ORPHA:289899Organic aciduria
- ORPHA:468726Severe primary trimethylaminuria
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/79062
- This record as JSON: /data/d/79062.json