Rare diseases · Sign or symptom
Abnormality of the urinary system
Urinary tract abnormalities
HP:0000079
What it means
An abnormality of the urinary system.
Rare diseases that can present with this48
Very common80–99%
9- 3q13microdeletion syndrome
- Adrenomyodystrophy
- Axial mesodermal dysplasia spectrum
- Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
- Fraser syndrome
- Hydrocephaly-low insertion umbilicus syndrome
- Microcephalic osteodysplastic primordial dwarfism types I and III
- Renal caliceal diverticuli-deafness syndrome
- Sirenomelia
Common30–79%
15- 1p31p32microdeletion syndrome
- 8p inverted duplication/deletion syndrome
- Autosomal recessive spastic paraplegia type 5A
- Czeizel-Losonci syndrome
- Epidermolysis bullosa simplex with pyloric atresia
- Fanconi anemia
- Hereditary motor and sensory neuropathy, Okinawa type
- Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
- Kabuki syndrome
- Nephrosis-deafness-urinary tract-digital malformations syndrome
- Pediatric systemic lupus erythematosus
- Pelizaeus-Merzbacher disease
- Recessive dystrophic epidermolysis bullosa inversa
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
- Wolfram syndrome
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, and Orphanet separately records 4 diseases where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Urinary tract abnormality · Urinary tract anomalies
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.