Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Thickening of the tubular basement membrane
Always present (100%)HP:0020132
Tubulointerstitial scarring
Always present (100%)HP:0005576
Breakdown of light-sensitive cells in back of eye
Very frequent (80-99%)HP:0000556
CKD
Very frequent (80-99%)HP:0012622
Decreased body height
Very frequent (80-99%)HP:0004322
End-stage renal disease
Very frequent (80-99%)HP:0003774
High blood pressure
Very frequent (80-99%)HP:0000822
Mental and motor retardation
Very frequent (80-99%)HP:0001263
Poor vision
Very frequent (80-99%)HP:0000505
Retinal pigmentary anomaly
Very frequent (80-99%)HP:0007703
Decreased visual acuity, progressive
Frequent (30-79%)HP:0000529
Extreme thirst
Frequent (30-79%)HP:0001959
Increased urine output
Frequent (30-79%)HP:0000103
Premature menopause
Frequent (30-79%)HP:0008209
Urine concentrating defect
Frequent (30-79%)HP:0004727
Abnormality of bone mineral density
Occasional (5-29%)HP:0004348
Ataxia
Occasional (5-29%)HP:0001251
Cataract
Occasional (5-29%)HP:0000518
Cone-shaped epiphyses
Occasional (5-29%)HP:0010579
Congenital hepatic fibrosis
Occasional (5-29%)HP:0002612
Increased creatinine
Occasional (5-29%)HP:0003259
Mental-retardation
Occasional (5-29%)HP:0001249
Renal insufficiency
Occasional (5-29%)HP:0000083
Decreased haemoglobin
HP:0001903
Nephronophthisis
HP:0000090
Quick Facts
- SNOMED CT
- 236531005
- UMLS CUI
- C0403553
- Fully Specified Name
- Renal dysplasia and retinal aplasia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 25
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.