ORPHA:156183

Retinal ciliopathy due to mutation in Bardet-Biedl gene

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.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Retinal ciliopathy due to mutation in Bardet-Biedl gene
fr	Ciliopathie rétinienne due à une mutation du gène Bardet-Biedl
de	Ziliopathie, retinale, durch BBS-Genmutation
es	Ciliopatía retiniana por una mutación en el gen Bardet-Biedl	Ciliopatía retinal por una mutación en el gen Bardet-Biedl
it	Ciliopatia retinica da mutazione del gene di Bardet-Biedl
nl	Retinale ciliopathie door mutatie in Bardet-Biedl-gen
pt	Ciliopatia retiniana por mutação no gene de Bardet-Biedl
pl	Rzęskopatia siatkówki z powodu mutacji w genie Bardeta i Biedla
cs	Ciliopatie sítnice kvůli mutaci v Bardetově-Biedlově genu	Ciliopatie sítnice kvůli mutaci v Bardet-Biedlově genu
uk	Циліопатія сітківки внаслідок мутації в гені Барде-Бідля
zh	Bardet-Biedl基因突变所致视网膜睫状体病
tr	Bardet-Biedl genindeki mutasyona bağlı retina siliyopati

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
UMLS	C5680667	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:97966Rare ophthalmic disorder

Parents in the classifications (1):

ORPHA:156165Retinal ciliopathy
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/156183
This record as JSON: /data/d/156183.json