Retinal ciliopathy

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Retinal ciliopathy

ORPHA:156165Category

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Classified as
Category

Genes reported in subtypes

AHI1ALMS1B9D1B9D2CC2D2ACENPFCEP120CEP290CEP41CSPP1DYNC2H1DYNC2I1DYNC2I2DYNC2LI1EVCEVC2GLI1IFT140IFT172IFT80INPP5EKIAA0753MKS1PRKACAPRKACBRPGRIP1RPGRIP1LTCTN1TCTN2TCTN3TMEM107TMEM216TMEM231TMEM237TMEM67TTC21BTXNDC15WDR19

Orphanet records these genes on 8 more specific entries under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

MONDO 0022410UMLS C5680651

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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