autosomal recessive cutis laxa type 1
Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).
MONDO:0005385
vascular disorder
excluded_subClassOf
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0100237
inherited cutis laxa
is_a
ARCL1
exact
autosomal recessive cutis laxa type 1
exact
autosomal recessive cutis laxa with severe systemic involvement
exact
autosomal recessive cutis laxa, pulmonary emphysema type
exact
cutis laxa, autosomal recessive type 1
related
cutis laxa, type 1
related