Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Bilateral congenital sensorineural deafness
HP:0008527
Diffuse slow skin atrophy
HP:0007504
Dystrophic nails
HP:0008404
Nail dysplasia
HP:0002164
Related Conditions
Quick Facts
- SNOMED CT
- 254176007
- UMLS CUI
- C0268368
- Fully Specified Name
- Progressive recessive dystrophic epidermolysis bullosa (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 4
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.