raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:206704

Bulbospinal muscular atrophy of childhood

Type
Clinical group
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 of childhood
frAmyotrophie bulbospinale de l'enfant
deMuskelatrophie, bulbospinale, des Kindes
esAtrofia muscular bulboespinal infantil
itAtrofia muscolare bulbospinale del bambino
nlBulbospinale spieratrofie bij kinderenBulbospinale musculaire atrofie bij kinderen
ptAtrofia muscular bulbo-espinhal da infância
plOpuszkowo-rdzeniowy zanik mięśni dzieci
csBulbospinální svalová atrofie dětského věku
ukДитяча бульбоспінальна мязова атрофія
zh儿童期延髓肌萎缩
trÇocuklukta bulbospinal kas atrofisi
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO16114Evalidated
UMLSC5680797Evalidated

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 (1):

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