AtlasWho We HelpOur ScienceProductsOutcomes
Log InAskSequence your genome↗
Trait
Optic disc coloboma
A cleft of the optic nerve that extends inferiorly.
Summary
- Also called
- Coloboma of optic nerve, Optic nerve coloboma
- Body system
- Abnormality of the eye
AtlasWho We HelpOur ScienceProductsOutcomes
Log InAskSequence your genome↗
This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/optic-disc-coloboma.json"
page <- fromJSON(url)
page$trait$nameOptic disc colobomaHP:0000588
AtlasWho We HelpOur ScienceProductsOutcomes
Log InAskSequence your genome↗
Read the genes linked to Optic disc coloboma, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome Test34 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Curry-Jones Syndrome (Mosaic SMO Syndrome)Reads 1 of these genesSMOAbout this report →
- Orofaciodigital Syndrome Type 14Reads 1 of these genesC2CD3About this report →
- Spondylometaphyseal Dysplasia With Cone-Rod DystrophyReads 1 of these genesPCYT1AAbout this report →
- Warsaw Breakage SyndromeReads 1 of these genesDDX11About this report →
Show 30 more reports
- Joubert Syndrome And Related DisordersReads 5 of these genesCC2D2AINPP5ERPGRIP1LTMEM67TMEM216About this report →
- Kabuki SyndromeReads 1 of these genesKMT2DAbout this report →
- Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & AniridiaReads 2 of these genesFOXE3PAX6About this report →
- Meckel SyndromeReads 2 of these genesRPGRIP1LTMEM67About this report →
- Congenital Diarrhoeas & EnteropathiesReads 2 of these genesSPINT2EPCAMAbout this report →
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)Reads 1 of these genesTRRAPAbout this report →
- Lynch SyndromeReads 1 of these genesEPCAMAbout this report →
- Lissencephaly Spectrum DisordersReads 2 of these genesACTBACTG1About this report →
- Cornelia de Lange SyndromeReads 1 of these genesNIPBLAbout this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 3 of these genesCC2D2ATMEM67TMEM216About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 2 of these genesBCORFZD5About this report →
- GlomerulosclerosisReads 1 of these genesPAX2About this report →
- Kidney CancerReads 1 of these genesPAX6About this report →
- Focal Segmental GlomerulosclerosisReads 1 of these genesPAX2About this report →
- Congenital Anomalies of the Kidney and Urinary TractReads 1 of these genesPAX2About this report →
- Urinary and Renal System TumourReads 1 of these genesPAX6About this report →
- Aortic AneurysmReads 1 of these genesFOXE3About this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 1 of these genesHHATAbout this report →
- Nephronophthisis and Senior-Løken SyndromeReads 1 of these genesTMEM67About this report →
- Syndromic CraniosynostosisReads 1 of these genesSMOAbout this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 1 of these genesSMOAbout this report →
- Diabetes MellitusReads 1 of these genesPAX6About this report →
- Severe Combined ImmunodeficiencyReads 1 of these genesNHEJ1About this report →
- Inherited ThrombocytopeniasReads 1 of these genesACTBAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesACTBAbout this report →
- Inherited Neurodegenerative DisordersReads 3 of these genesCC2D2ATMEM67TMEM216About this report →
- Intellectual DisabilityReads 2 of these genesNAA10PRMT7About this report →
- Retinitis PigmentosaReads 1 of these genesCC2D2AAbout this report →
- Hearing Loss and DeafnessReads 1 of these genesACTG1About this report →
- Other Inborn Errors of ImmunityReads 1 of these genesNHEJ1About this report →
Read the genes linked to Optic disc coloboma, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome Test33 genes linked to Optic disc coloboma
Changes in these genes cause rare conditions in which Optic disc coloboma is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| DDX11DEAD/H-box helicase 11 | Always | In 1 condition |
| HHAThedgehog acyltransferase | Always | In 1 condition |
| NHEJ1non-homologous end joining factor 1 | Always | In 1 condition |
| PAX2paired box 2 | Always | In 2 conditions |
| SALL2spalt like transcription factor 2 | Always | In 1 condition |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Always | In 1 condition |
| BCORBCL6 corepressor | Often (30–79%) | In 2 conditions |
| CC2D2Acoiled-coil and C2 domain containing 2A | Often (30–79%) | In 1 condition |
| DDX59DEAD-box helicase 59 | Often (30–79%) | In 1 condition |
| FOXE3forkhead box E3 | Often (30–79%) | In 1 condition |
| FZD5frizzled class receptor 5 | Often (30–79%) | In 1 condition |
| IGBP1immunoglobulin binding protein 1 | Often (30–79%) | In 2 conditions |
| INPP5Einositol polyphosphate-5-phosphatase E | Often (30–79%) | In 2 conditions |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Often (30–79%) | In 2 conditions |
| NR6A1nuclear receptor subfamily 6 group A member 1 | Often (30–79%) | In 1 condition |
| RPGRIP1LRPGRIP1 like | Often (30–79%) | In 1 condition |
| SALL4spalt like transcription factor 4 | Often (30–79%) | In 1 condition |
| TMEM67transmembrane protein 67 | Often (30–79%) | In 1 condition |
| ACTBactin beta | Sometimes (5–29%) | In 1 condition |
| ACTG1actin gamma 1 | Sometimes (5–29%) | In 1 condition |
| KMT2Dlysine methyltransferase 2D | Sometimes (5–29%) | In 1 condition |
| MAU2MAU2 sister chromatid cohesion factor | Sometimes (5–29%) | In 1 condition |
| PAX6paired box 6 | Sometimes (5–29%) | In 3 conditions |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Sometimes (5–29%) | In 1 condition |
| PRMT7protein arginine methyltransferase 7 | Sometimes (5–29%) | In 1 condition |
| SMOsmoothened, frizzled class receptor | Sometimes (5–29%) | In 1 condition |
| SPINT2serine peptidase inhibitor, Kunitz type 2 | Sometimes (5–29%) | In 1 condition |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Sometimes (5–29%) | In 1 condition |
| EPCAMepithelial cell adhesion molecule | Rarely (1–4%) | In 1 condition |
| TRRAPtransformation/transcription domain associated protein | Rarely (1–4%) | In 1 condition |
| C2CD3C2 domain containing 3 centriole elongation regulator | Not recorded | In 1 condition |
| NIPBLNIPBL cohesin loading factor | Not recorded | In 1 condition |
| TMEM216transmembrane protein 216 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.19-9814e911.
AtlasWho We HelpOur ScienceProductsOutcomes
Log InAskSequence your genome↗
From traits to your genome
Read the genes behind these traits in your own DNA.
The Genome Test sequences nearly all of your DNA, not a preset panel, so every gene on these pages is in your data. Premium adds 810+ physician-ready reports.
From $449
Free shipping · Results in 6–8 weeks
