raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:79344

OBSOLETE: Chondrodysplasia punctata, Sheffield type

inactive · referred to ORPHA:79345Brachytelephalangic chondrodysplasia punctata

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 Brachytelephalangic chondrodysplasia punctata

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enOBSOLETE: Chondrodysplasia punctata, Sheffield type
frOBSOLETE : Chondrodysplasie ponctuée type Sheffield
deOBSOLET: Chondrodysplasia punctata Typ Sheffield
esOBSOLETO: Condrodisplasia punctata tipo Sheffield
itOBSOLETO: Condrodisplasia puntata autosomica dominanteOBSOLETO: Condrodisplasia puntata, tipo Sheffield
nlOBSOLEET: Chondrodysplasia punctata, Sheffield-type
ptOBSOLETO: Condrodisplasia pontuada tipo Sheffield
plNIEAKTUALNE: Chondrodysplazja punktowa, typu Sheffielda
csNEAKTUÁLNÍ: Autozomálně dominantní chondrodysplasia punctataNEAKTUÁLNÍ: Chondrodysplasia punctata, Sheffieldův typ
ukЗАСТАРІЛО: Хондродисплазія точкова, тип Шеффілда
zh弃用:点状软骨发育不良,Sheffield型
trEski adı: Kondrodisplazi punktata, Sheffield tipi
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