Rare diseases · Sign or symptom
Renotubular dysgenesis
HP:0008660
What it means
A developmental defect characterized by absence or poor development of proximal renal tubules.
Renotubular dysgenesis is generally accompanied by early onset and persistent oligohydramnios that leads to the Potter sequence.
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: Renal tubular dysgenesis
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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.