epidermolysis bullosa simplex with anodontia/hypodontia
MONDO:0016514Mondo
Findings
No curated finding names epidermolysis bullosa simplex with anodontia/hypodontia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
19 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal blistering of the skinHPOHP:0008066
- Very frequent (80% to 99% of cases)
- Abnormal dental enamel morphologyHPOHP:0000682
- Very frequent (80% to 99% of cases)
- Abnormal fingernail morphologyHPOHP:0001231
- Very frequent (80% to 99% of cases)
- Delayed eruption of teethHPOHP:0000684
- Very frequent (80% to 99% of cases)
- Fingernail dysplasiaHPOHP:0100798
- Very frequent (80% to 99% of cases)
- Hypoplastic toenailsHPOHP:0001800
- Very frequent (80% to 99% of cases)
- MyopiaHPOHP:0000545
- Very frequent (80% to 99% of cases)
- Sparse scalp hairHPOHP:0002209
- Very frequent (80% to 99% of cases)
- Tooth agenesisHPOHP:0009804
- Very frequent (80% to 99% of cases)
- Abnormality of the faceHPOHP:0000271
- Frequent (30% to 79% of cases)
- AlopeciaHPOHP:0001596
- Frequent (30% to 79% of cases)
- Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
Show the remaining 7
- Ectopia lentisHPOHP:0001083
- Frequent (30% to 79% of cases)
- Mandibular prognathiaHPOHP:0000303
- Frequent (30% to 79% of cases)
- Short philtrumHPOHP:0000322
- Frequent (30% to 79% of cases)
- Toenail dysplasiaHPOHP:0100797
- Frequent (30% to 79% of cases)
- AnemiaHPOHP:0001903
- Occasional (5% to 29% of cases)
- Fatigable weaknessHPOHP:0003473
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: epidermolysis bullosa simplex with anodontia/hypodontia
- Also called
- Gamborg-Nielsen syndromeKallin syndrome