Overview
Deficiency of steryl-sulfatase is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Ichthyosiform abnormality of the skin
Always present (100%)HP:0008064
Hypohidrosis
Frequent (30-79%)HP:0000966
Cryptorchidism
Occasional (5-29%)HP:0000028
Keratoderma
Occasional (5-29%)HP:0000982
Palmar hyperlinearity
Occasional (5-29%)HP:0033252
Poor school performance
Occasional (5-29%)HP:0001249
Testicular cancer
Very rare (1-4%)HP:0010788
Cloudy cornea
Excluded (<1%)HP:0007759
Congenital ichthyosiform erythroderma
HP:0007431
Quick Facts
- SNOMED CT
- 3642008
- UMLS CUI
- C2717836
- Fully Specified Name
- Disorder involving deficiency of steryl-sulfatase (EC 3.1.6.2) (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 9
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.