raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:183524

Rare genetic bone 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
enRare genetic bone disease
frMaladie osseuse rare d'origine génétique
deKnochenkrankheit, genetisch bedingte, seltene
esEnfermedades óseas genéticas raras
itMalattia genetica rara dell'osso
nlZeldzame genetische botziekte
ptDoença óssea genética rara
plRzadka choroba kości uwarunkowana genetycznie
csVzácná geneticky podmíněná onemocnění kostí
ukРідкісне генетично обумовлене захворювання кісток
zh罕见遗传性骨病
trNadir genetik kemik hastalığı
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO15958Evalidated
UMLSC5680561Evalidated

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 (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