raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:93301

Brachyolmia type 1, Hobaek 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, Hobaek type
frBrachyolmie type 1 de Hobaek
deBrachyolmie Typ 1, Hobaek-Typ
esBraquiolmia tipo 1, tipo Hobaek
itBrachiolmia di Hobaek, tipo 1
nlBrachyolmie type 1, Hobaek-type
ptBraquiolmia tipo Hobaek
plBrachyolmia typu 1, typu Hobaeka
csBrachyolmie typ 1, Hobaekův typ
ukБрахіолмія типу 1, тип Хобаека
zh短躯干症,1型 Hobaek 型
trBrakiyolmi tip 1, Hobaek tipi
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM271530Evalidated

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