Rare diseases · Sign or symptom
Abnormality of the genitourinary system
HP:0000119
What it means
The presence of any abnormality of the genitourinary system.
Rare diseases that can present with this49
Very common80–99%
4Common30–79%
19- ALG3-CDG
- Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
- Bardet-Biedl syndrome
- Coffin-Siris syndrome
- DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
- FOXP1 Syndrome
- Hereditary mucoepithelial dysplasia
- Isolated Klippel-Feil syndrome
- Mowat-Wilson syndrome due to a ZEB2 point mutation
- Mowat-Wilson syndrome due to monosomy 2q22
- Ring chromosome 15 syndrome
- Rubinstein-Taybi syndrome
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Takenouchi-Kosaki syndrome
- THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
- Trisomy 10p syndrome
- X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
- ZTTK 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. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Abnormality of the GU system · Genitourinary abnormality · Genitourinary disease · Genitourinary dysplasia · Genitourinary tract anomalies · Genitourinary tract malformation · Urogenital abnormalities · Urogenital anomalies
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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.