trichodysplasia-amelogenesis imperfecta syndrome
MONDO:0019205Mondo
Findings
No curated finding names trichodysplasia-amelogenesis imperfecta syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked.
Definition from the Mondo Disease Ontology (MONDO:0019205), read 2026-09-29. CC BY 4.0.
Features
3 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.
- Alopecia of scalpHPOHP:0002293
- Very frequent (80% to 99% of cases)
- Amelogenesis imperfectaHPOHP:0000705
- Very frequent (80% to 99% of cases)
- TrichodysplasiaHPOHP:0002552
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of