raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:98713

OBSOLETE: Metabolic disease with pigmentary retinitis

inactive · referred to ORPHA:68367Rare inborn error of metabolism

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 Rare inborn errors of metabolism

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enOBSOLETE: Metabolic disease with pigmentary retinitis
frOBSOLETE : Maladie métabolique avec rétinopathie pigmentaire
deOBSOLET: Stoffwechselkrankheit mit Retinitis pigmentosa
esOBSOLETO: Enfermedad metabólica con retinosis pigmentaria
itOBSOLETO: Malattia metabolica associata a retinite pigmentosa
nlOBSOLEET: Stofwisselingsziekte met retinitis pigmentosa
ptOBSOLETO: Doença metabólica com retinite pigmentosa
plNIEAKTUALNE: Choroba metaboliczna ze zwyrodnieniem barwnikowym siatkówki
csNEAKTUÁLNÍ: Metabolická onemocnění s pigmentovou retinitidou
ukЗАСТАРІЛО: Метаболічні захворювання з пігментним ретинітом
zh弃用:色素性视网膜炎代谢性疾病
trEski adı: Pigmenter retinit ile seyreden metabolik hastalık
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