Rare diseases · Sign or symptom
Abnormality of the kidney
Abnormal kidney
HP:0000077
What it means
An abnormality of the kidney.
The kidney is a paired organ whose primary function is the production of urine.
Rare diseases that can present with this82
Very common80–99%
4Common30–79%
19- Caroli syndrome
- COG7-CDG
- Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
- Distal 16p11.2 microdeletion syndrome
- Distal triplication 15q syndrome
- Ellis-Van Creveld syndrome
- Limb body wall complex
- Mayer-Rokitansky-Küster-Hauser syndrome
- Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
- Nail-patella syndrome
- Polyarteritis nodosa
- Primary Sjögren disease
- Recombinant 8 syndrome
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Seizures-scoliosis-macrocephaly syndrome
- Systemic sclerosis
- Transaldolase deficiency
- Wolf-Hirschhorn 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 1 disease 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: Renal anomalies · Renal anomaly
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.