Rare diseases · Sign or symptom
Blue cone monochromacy
HP:0007939
What it means
A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors.
Rare diseases that can present with this1
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: Blue cone monochromatism · Incomplete achromatopsia · S-cone monochromacy
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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.