raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:225696

Energy metabolism disorder with epilepsy

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
enEnergy metabolism disorder with epilepsy
frAnomalie du métabolisme energétique avec épilepsie
deEnergiestoffwechselstörung mit Epilepsie
esAnomalía del metabolismo energético con epilepsia
itDisturbo del metabolsimo energetico associato a epilessia
nlEnergiestofwisselingsstoornis met epilepsie
ptDoença do metabolismo energético com epilepsia
plZaburzenie metabolizmu energii z padaczką
csPorucha energetického metabolismu s epilepsií
ukПорушення енергетичного обміну з епілепсією
zh能量代谢障碍伴癫痫
trEpilepsi ile seyreden enerji metabolizması bozukluğu
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO16401Evalidated
UMLSC5680896Evalidated

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 (5):

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