raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:79226

Sterol metabolism disorder

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
enSterol metabolism disorder
frAnomalie du métabolisme des stérols
deSterol-Stoffwechselstörung
esEnfermedad del metabolismo de esteroles
itMalattia del metabolismo degli steroli
nlSterolmetabolismestoornis
ptDoença do metabolismo dos esteróides
plZaburzenie metabolizmu steroli
csPorucha metabolismu sterolů
ukПорушення обміну стеролів
zh甾醇代谢异常
trSterol metabolizması bozukluğu
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO0019256Evalidated
MONDO19256Evalidated
UMLSC5681277Evalidated

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 (2):

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