ORPHA:156180

Retinal ciliopathy due to mutation in nephronophthisis 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 nephronophthisis gene
fr	Ciliopathie rétinienne due à une mutation du gène néphronophtise
de	Ziliopathie, retinale, durch Mutationen im Nephronophthise-Gen
es	Ciliopatía retiniana por una mutación en el gen nefronoptisis	Ciliopatía retinal por una mutación en el gen nefronoptisis
it	Ciliopatia retinica da mutazione del gene della nefronoftisi
nl	Retinale ciliopathie door mutatie in nefronoftise-gen
pt	Ciliopatia retiniana por mutação no gene da nefronoptise
pl	Rzęskopatia siatkówki z powodu mutacji w genie nefronoftyzy
cs	Ciliopatie sítnice způsobená mutací v genech podmiňujících nefronoftýzu
uk	Циліопатія сітківки внаслідок мутації в гені нефронофтісу
zh	肾消耗病基因突变所致视网膜睫状体病
tr	Nefronoftiz genindeki mutasyona bağlı retina siliyopati

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
UMLS	C5680666	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 (6):

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/156180
This record as JSON: /data/d/156180.json