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autosomal recessive cutis laxa type 2
Disease Summary
Associated Targets (4)
Tbio
4
Mondo Description Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover 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, DebrC) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS).
Mondo Term and Equivalent IDs
MONDO:0019573: autosomal recessive cutis laxa type 2
Orphanet:90350:
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
Orphanet:90350
MONDO:0019573
High level summary of knowledge for a disease, including descriptions and datasource references.