Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Nephronophthisis
Always present (100%)HP:0000090
Abnormality of RPE
Frequent (30-79%)HP:0007703
Low number of red blood cells or haemoglobin
Frequent (30-79%)HP:0001903
Renal insufficiency
Frequent (30-79%)HP:0000083
Corticomedullary renal cysts
HP:0000108
Disintegration of the tubular basement membrane
HP:0005583
End-stage renal disease
HP:0003774
Extreme thirst
HP:0001959
Growth failure
HP:0001510
High blood pressure
HP:0000822
Hyposthenuria
HP:0003158
Increased urine output
HP:0000103
Renal tubular cell atrophy
HP:0000092
Tubulointerstitial renal fibrosis
HP:0005576
Related Conditions
Infantile nephronophthisis(child)
Adolescent nephronophthisis(child)
Juvenile nephronophthisis(child)
Nephronophthisis type 6(child)
Nephronophthisis type 4(child)
Nephronophthisis type 5(child)
Boichis disease(child)
Joubert syndrome with oculorenal defect(child)
Renal dysplasia and retinal aplasia(child)
Nephronophthisis - medullary cystic disease(parent)
Hereditary nephropathy(parent)
Recessive hereditary disorder (autosomal)(parent)
Quick Facts
- SNOMED CT
- 204958008
- UMLS CUI
- C0687120
- Fully Specified Name
- Nephronophthisis (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 14
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.