ORPHA:646098

Collagen VI-related congenital muscular dystrophy

Synonyms: COL6-RD

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.

Names in Orphadata languages

10 of 12 languages

Lang	Name	Synonyms
en	Collagen VI-related congenital muscular dystrophy	COL6-RD
fr	Dystrophie musculaire congénitale liée au collagène de type VI	Dystrophie musculaire congénitale liée au déficit en collagène VI
de	Kollagen Typ VI-assoziierte kongenitale Muskeldystrophie
es	Distrofia muscular congénita asociada al colágeno VI	= en
it	Distrofia muscolare congenita correlata al collagene tipo VI	= en
nl	Collageen VI-gerelateerde congenitale spierdystrofie	= en
pt	Distrofia muscular congénita colagénio VI-relacionada	= en
pl	Wrodzona dystrofia mięśniowa związana z kolagenem VI	= en
cs	Vrozená svalová dystrofie spojená s kolagenem VI	= en
uk	Вроджена мязова дистрофія, повязана з колагеном VI	= en

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	Validation
OMIM	158810	BTNT	validated
OMIM	254090	BTNT	validated
UMLS	C5816703	E	validated

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

Classification

Preferential parent (Orphanet linearisation):

ORPHA:98006Rare neurologic disease

Parents in the classifications (2):

ORPHA:97242Congenital muscular dystrophy
rare genetic diseases; rare neurological diseases
ORPHA:207090Qualitative or quantitative defects of collagen 6
rare genetic diseases

Children (3):

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/646098
This record as JSON: /data/d/646098.json