raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:1819

OBSOLETE: Epimetaphyseal skeletal dysplasia

inactive · referred to ORPHA:93430Multiple metaphyseal dysplasia

Type
Malformation syndrome
Group
Disorder
Status
inactive
Flag
Obsolete entity

This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Multiple metaphyseal dysplasia

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enOBSOLETE: Epimetaphyseal skeletal dysplasia
frOBSOLETE : Dysplasie épimétaphysaire autosomique dominante
deOBSOLET: Skelettdysplasie, epimetaphysäre dominante
esOBSOLETO: Displasia epimetafisaria dominante
itOBSOLETO: Displasia epimetafisaria dominante
nlOBSOLEET: Epimetafysaire skeletdysplasie
ptOBSOLETO: Displasia esquelética epimetafisária
plNIEAKTUALNE: Szkieletowa dysplazja przynasadowa
csNEAKTUÁLNÍ: Epimetafyzární skeletální dysplázie
ukЗАСТАРІЛО: Епіметафізарна скелетна дисплазія
zh弃用:上干骺端骨发育不良
trEski adı: Epimetafizyal iskelet displazisi
2

Cross-references

qualifier = Orphanet mapping relation

No cross-references in this release.

3

Classification

Not placed in any Orphanet classification in this release.

No children.

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