Rare diseases · Sign or symptom

Nephroblastoma

HP:0002667

What it means

The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.

Nephroblastoma is characterized by an abnormal proliferation of the metanephric blastema cells, which are believed to be primitive embryologic cells of the kidney. Clinically, nephroblastoma usually presents as an abdominal mass, and in some cases with abdominal pain, hypertension, hematuria, and fever.

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 this26

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: Wilms tumor · Wilms tumour

Nephroblastoma

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This 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.