autosomal recessive cutis laxa type I (DOID:0070144)
Alliance: disease page
Synonyms: autosomal recessive cutis laxa type 1
Alt IDs: MESH:C562628, ORDO:90439, UMLS_CUI:C0268351, UMLS_CUI:C0432336
Definition: A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particulary in the lungs, vasculature, and gastrointestinal and genitourinary systems.