raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:206701

Bulbospinal muscular atrophy

Type
Category
Group
Group of disorders
Status
active

This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enBulbospinal muscular atrophy
frAmyotrophie bulbospinale
deMuskelatrophie, bulbospinale
esAtrofia muscular bulboespinal
itAtrofia muscolare bulbospinale
nlBulbospinale spieratrofieBulbospinale musculaire atrofie
ptAtrofia muscular bulbo-espinhal
plOpuszkowo-rdzeniowy zanik mięśni
csBulbospinální svalová atrofie
ukБульбоспинальна мязова атрофія
zh延髓肌萎缩
trBulbospinal kas atrofisi
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO0016113Evalidated
MONDO16113Evalidated
UMLSC0393547Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

Children (4):

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