raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:642737

OBSOLETE: Spondyloepimetaphyseal dysplasia with severe short stature

inactive · referred to ORPHA:370015Spondyloepimetaphyseal dysplasia, Isidor-Toutain type

Type
Malformation syndrome
Group
Disorder
Status
inactive
Flag
Obsolete entity

This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Spondyloepimetaphyseal dysplasia, Isidor type

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Names in Orphadata languages

10 of 12 languages
LangNameSynonyms
enOBSOLETE: Spondyloepimetaphyseal dysplasia with severe short stature
frOBSOLETE : Syndrome de dysplasie spondylo-épimétaphysaire-petite taille sévère
deOBSOLET: Spondyloepimetaphysäre Dysplasie mit starkem KleinwuchsOBSOLET: SEMDIST
esOBSOLETO: Displasia espondiloepimetafisaria con talla baja extrema
itOBSOLETO: Displasia spondiloepimetafisaria con statura notevolmente bassaOBSOLETO: Displasia spondiloepimetafisaria tipo Isidor-Toutain · OBSOLETO: SEMDIST
nlOBSOLEET: Spondylo-epimetafysaire dysplasie met ernstige kleine gestalteOBSOLEET: SEMDIST · OBSOLEET: Spondylo-epimetafysaire dysplasie, Isidor-Toutain-type
ptOBSOLETO: Displasia espondiloepimetafisária com baixa estatura grave
plNIEAKTUALNE: Dysplazja kręgowo-nasadowo-przynasadowa z ciężkim niedoborem wzrostu
csNEAKTUÁLNÍ: Spondyloepimetafyzární dysplázie se závažnou formou malého vzrůstu
ukЗАСТАРІЛО: Спондилоепіметафізарна дисплазія з вираженою низькорослістю
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Cross-references

qualifier = Orphanet mapping relation

No cross-references in this release.

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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.

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Sources for this card