Rare diseases · Sign or symptom
Melanoma
HP:0002861
What it means
The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea).
A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis.
In everyday care
Most people with this sign do not have a rare disease — it appears in common conditions far more often. These general reference pages cover the same topic:
Rare diseases that can present with this28
Common30–79%
3Sometimes5–29%
15- Cowden syndrome
- Diethylstilbestrol syndrome
- Familial pancreatic carcinoma
- Hereditary breast and/or ovarian cancer syndrome
- Mutilating palmoplantar keratoderma with periorificial keratotic plaques
- Neurocutaneous melanocytosis
- Noonan syndrome with multiple lentigines
- Oculocutaneous albinism type 1B
and 7 more in this range
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: Cancer of skin pigment cells · Malignant melanoma · Skin cancer (melanoma)
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
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.