raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:98470

OBSOLETE: Congenital muscular dystrophy due to proteins of the endoplasmic reticulum anomaly

inactive · referred to ORPHA:97242Congenital muscular dystrophy

Type
Category
Group
Group of disorders
Status
inactive
Flag
Obsolete entity

This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>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.<br/><br/>Instead, consider using Congenital muscular dystrophy

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enOBSOLETE: Congenital muscular dystrophy due to proteins of the endoplasmic reticulum anomaly
frOBSOLETE : Dystrophie musculaire congénitale par anomalie des protéines du réticulum endoplasmique
deOBSOLET: Muskeldystrophie, kongenitale, durch Proteinanomalie des endoplasmatischen Retikulums
esOBSOLETO: Distrofia muscular congénita por una anomalía de las proteínas del retículo endoplasmático
itOBSOLETO: Distrofia muscolare congenita da anomalia delle proteine del reticolo endoplasmatico
nlOBSOLEET: Congenitale spierdystrofie door anomalie van eiwitten van endoplasmische reticulum
ptOBSOLETO: Distrofia muscular congénita por anomalia de proteínas do retículo endoplasmático
plNIEAKTUALNE: Wrodzona dystrofia miesniowa z powodu anomalii bialek retikulum endoplazmatycznego
csNEAKTUÁLNÍ: Vrozená svalová dystrofie způsobená anomálií proteinů endoplazmatického retikula
ukЗАСТАРІЛО: Вроджена мязова дистрофія, спричинена аномалією білків ендоплазматичного ретикулуму
zh弃用:内质网蛋白异常所致先天性肌营养不良
trEski adı: Endoplazmik retikulum anomalisinin proteinlerine bağlı doğumsal kas distrofisi
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