raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:217581

Lysosomal disease with hypertrophic cardiomyopathy

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
enLysosomal disease with hypertrophic cardiomyopathy
frMaladie lysosomale avec cardiomyopathie hypertrophique
deLysosomale Krankheit mit hypertropher Kardiomyopathie
esEnfermedad lisosomal con miocardiopatía hipertrófica
itMalattia lisosomiale con cardiomiopatia ipertrofica
nlLysosomale ziekte met hypertrofische cardiomyopathie
ptDoença lisossomal com miocardiopatia hipertrófica
plChoroba lizosomalna z kardiomiopatią przerostową
csLysozomální onemocnění s hypertrofickou kardiomyopatií
ukЛізосомна хвороба з гіпертрофічною кардіоміопатією
zh溶酶体病伴肥厚型心肌病
trHipertrofik kardiyomiyopati ile seyreden lizozomal hastalık
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO16326Evalidated
UMLSC5397275Evalidated

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 (7):

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