raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:391381

Disorder of asparagine 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.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enDisorder of asparagine metabolism
frTrouble du métabolisme de l'asparagine
deAsparagin-Stoffwechselstörung
esTrastorno del metabolismo de la asparagina
itDifetto del metabolismo dell'asparagina
nlStoornis van asparaginemetabolisme
ptAlteração do metabolismo da asparagina
plZaburzenia metabolizmu kwasu asparaginianowego
csPoruchy metabolismu asparaginu
ukПорушення метаболізму аспарагіну
zh天冬酰胺代谢紊乱
trAsparajin metabolizması bozukluğu
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO18318Evalidated
UMLSC5681155Evalidated

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):

Children (1):

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card