raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:93303

Brachyolmia type 1, Toledo type

inactive · moved to ORPHA:448242Autosomal recessive brachyolmia

Type
Malformation syndrome
Group
Disorder
Status
inactive
Flag
Deprecated entity

This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal recessive brachyolmia

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enBrachyolmia type 1, Toledo type
frBrachyolmie type 1 de Toledo
deBrachyolmie Typ 1, Toledo-Typ
esBraquiolmia tipo 1, tipo Toledo
itBrachiolmia di Toledo, tipo 1
nlBrachyolmie type 1, Toledo-type
ptBraquiolmia tipo Toledo
plBrachyolmia typu 1, typu Toledo
csBrachyolmie typ 1, Toledův typ
ukБрахіолмія типу 1, тип Толедо
zh短躯干症,1型 Toledo 型
trBrakiyolmi tip 1, Toledo tipi
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM271630Evalidated

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