Disease association ontology term - MONDO:0009990 - Revesz syndrome
Term summary
- ID
- MONDO:0009990
- Name
- Revesz syndrome
- Ontology or CV name
- Disease association
- Definition
- Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.
