raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:280400

Inherited human prion disease

Synonyms: Familial prion disease · Genetic human prion disease

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
enInherited human prion diseaseFamilial prion disease · Genetic human prion disease
frMaladie à prion humaine héréditaireMaladie à prion humaine génétique · Maladie à prions familiale
dePrionkrankheit, humane vererbteFamiliäre Prionkrankheit · Prionkrankheit, genetisch bedingte
esEnfermedad por priones humanos hereditariaEnfermedad por priones humanos genética · Enfermedad priónica familiar
itMalattia ereditaria da prioniMalattia familiare da prioni
nlHereditaire humane prionziekteFamiliale prionziekte · Genetische humane prionziekte
ptDoença priónica hereditáriaDoença priónica familiar
plDziedziczna choroba prionowaRodzinna choroba prionowa
csDědičná prionová onemocněníFamiliární prionová onemocnění
ukСпадкова пріонна хвороба людиниСімейна пріонна хвороба · Генетичне пріонне захворювання людини
zh遗传性人类朊病毒病遗传性人朊病毒病
trKalıtsal insan prion hastalığıAilesel prion hastalığı · Genetik insan prion hastalığı
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO17234Evalidated
UMLSC5679775Evalidated

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 (2):

Children (6):

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