Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Hyperkeratotic papule
Always present (100%)HP:0045059
Hypopigmented macule
Always present (100%)HP:0020073
Keratoderma
Always present (100%)HP:0000982
Punctate palmoplantar hyperkeratosis
Always present (100%)HP:0007530
Ectopic calcification
Frequent (30-79%)HP:0010766
Cutaneous calcification
Occasional (5-29%)HP:0025520
Abnormal blood phosphate concentration
Excluded (<1%)HP:0100529
Abnormal nail morphology
Excluded (<1%)HP:0001597
Abnormality of the hair shaft
Excluded (<1%)HP:0001595
Dental anomalies
Excluded (<1%)HP:0000164
Epidermal hyperkeratosis
HP:0000962
Hyperglycemia
Excluded (<1%)HP:0003074
Hypergranulosis
HP:0025114
Orthokeratosis
HP:0040162
Thickening of upper layer of skin
HP:0025092
Quick Facts
- SNOMED CT
- 711154007
- UMLS CUI
- C3809781
- Fully Specified Name
- Guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 15
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.