raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:98714

OBSOLETE: Metabolic disease with macular cherry-red spot

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 macular cherry-red spot
frOBSOLETE : Maladie métabolique avec tâche maculaire rouge cerise
deOBSOLET: Stoffwechselkrankheit mit kirschrotem Fleck der Makula
esOBSOLETO: Enfermedad metabólica con manchas maculares rojo cereza
itOBSOLETO: Malattia metabolica associata a edema maculare ''rosso ciliegia''
nlOBSOLEET: Stofwisselingsziekte met kersrode macula
ptOBSOLETO: Doença metabólica com mancha macular vermelho-cereja
plNIEAKTUALNE: Choroba metaboliczna z objawem wisniowo-czerwonej plamki
csNEAKTUÁLNÍ: Metabolická onemocnění s makulární třešňovou skvrnou
ukЗАСТАРІЛО: Метаболічна хвороба з макулярною вишнево-червоною плямою
zh弃用:黄斑樱桃红点代谢性疾病
trEski adı: Maküler kiraz kırmızısı benekli ile seyreden metabolik hastalık
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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