Rare diseases · Sign or symptom
Color vision defect
Abnormal color vision
HP:0000551
What it means
An anomaly in the ability to discriminate between or recognize colors.
Rare diseases that can present with this27
Very common80–99%
6Common30–79%
10- Abetalipoproteinemia
- Adult-onset foveomacular vitelliform dystrophy
- Autosomal dominant optic atrophy, classic form
- Bardet-Biedl syndrome
- Best vitelliform macular dystrophy
- Blue cone monochromatism
- Cone rod dystrophy
- Early-onset X-linked optic atrophy
- Posterior cortical atrophy
- Severe early-childhood-onset retinal dystrophy
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Abnormal colour vision · Abnormality of color vision · Abnormality of colour vision · Color vision defect, severe · Color vision defects · Colour vision defect · Colour vision defect, severe · Colour vision defects
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.