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multiple benign circumferential skin creases on limbs 1
Disease Summary
Associated Targets (2)
Tclin
1
Tbio
1
Uniprot Description An autosomal dominant disease characterized by multiple, symmetric, circumferential rings of folded skin, affecting primarily the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features.
Mondo Term and Equivalent IDs
MONDO:0020738: multiple benign circumferential skin creases on limbs 1
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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 UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:156610
MONDO:0020738
High level summary of knowledge for a disease, including descriptions and datasource references.