Disease association ontology term - MONDO:0019573 - autosomal recessive cutis laxa type 2
Term summary
- ID
- MONDO:0019573
- Name
- autosomal recessive cutis laxa type 2
- Ontology or CV name
- Disease association
- Definition
- A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debre) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS).
