raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:99022

OBSOLETE: Niemann-Pick disease type E

inactive · referred to ORPHA:77293Chronic visceral acid sphingomyelinase deficiency

Type
Disease
Group
Disorder
Status
inactive
Flag
Obsolete entity

This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Chronic visceral acid sphingomyelinase deficiency

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enOBSOLETE: Niemann-Pick disease type E
frOBSOLETE : Maladie de Niemann-Pick type E
deOBSOLET: Niemann-Pick-Krankheit Typ E
esOBSOLETO: Enfermedad de Niemann-Pick tipo E
itOBSOLETO: Malattia di Niemann-Pick, tipo E
nlOBSOLEET: Ziekte van Niemann-Pick type E
ptOBSOLETO: Doença de Niemann-pick tipo E
plNIEAKTUALNE: Choroba Niemanna i Picka typu E
csNEAKTUÁLNÍ: Niemannova-Pickova choroba, typ ENEAKTUÁLNÍ: Niemann-Pickova choroba, typ E
ukЗАСТАРІЛО: Хвороба Німана-Піка, тип E
zh弃用:尼曼-匹克病E型
trEski adı: Niemann-Pick hastalığı tipi E
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