raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:79181

Disorder of histidine 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 histidine metabolism
frTrouble du métabolisme de l'histidine
deHistidin-Stoffwechselstörung
esEnfermedad del metabolismo de la histidina
itMalattia del metabolismo dell'istidina
nlStoornis van histidinemetabolisme
ptDoença do metabolismo da histidina
plZaburzenie metabolizmu histydyny
csPoruchy metabolismu histidinu
ukПорушення обміну гістидину
zh组氨酸代谢异常
trHistidin metabolizması bozukluğu
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-115C50.2Especificvalidated
MONDO0019228Evalidated
MONDO19228Evalidated
UMLSC0268512Evalidated

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 (3):

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