raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:79261

Glycogen storage disease type 1d

inactive · moved to ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

Synonyms: Type 1D glycogenosis

Type
Clinical subtype
Group
Subtype of disorder
Status
inactive
Flag
Deprecated entity

This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enGlycogen storage disease type 1dType 1D glycogenosis
frGlycogénose type 1d
deGlykogenose Typ 1D
esEnfermedad por almacenamiento de glucógeno tipo 1dGlucogenosis tipo 1D
itGlicogenosi, tipo 1D
nlGlycogeenstapelingsziekte type 1dGlycogenose type 1D
ptDoença de armazenamento de glicogénio tipo 1dGlicogenose tipo 1d
plChoroba spichrzania glikogenu typu 1dGlikogenoza typu 1D
csGlykogenóza, typ 1D= en
ukГлікогенова хвороба, тип 1dГлікогеноз типу 1D
zh糖原贮积症1d型糖原病1D型
trGlikojen depo hastalığı tip 1dTip 1D glikojenoz
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
UMLSC0342750Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

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