Epidermolysis bullosa simplex, Ogna type

disorder

SNOMED 398071000CUI C0432317

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal blistering of the skin

Frequent (30-79%)HP:0008066

Acral blistering

Frequent (30-79%)HP:0031045

Fragile skin

Frequent (30-79%)HP:0001030

Hyperpigmented macules

Frequent (30-79%)HP:0001034

Hypopigmented macule

Frequent (30-79%)HP:0020073

Keratoderma

Frequent (30-79%)HP:0000982

Palmoplantar blistering

Frequent (30-79%)HP:0007446

Skin erosion

Frequent (30-79%)HP:0200041

Tooth abnormalities

Occasional (5-29%)HP:0000164

Bruising susceptibility

HP:0000978

Hypoplastic dermoepidermal hemidesmosomes

HP:0020117

Onychogryphosis of toenails

HP:0008401

Skin fragility with non-scarring blistering

HP:0007585

Related Conditions

Autosomal dominant epidermolysis bullosa simplex(parent)

Quick Facts

SNOMED CT: 398071000
UMLS CUI: C0432317
Fully Specified Name: Epidermolysis bullosa simplex, Ogna type (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 13

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.