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Metadata
ID	DOID:0112243
Name	congenital symmetric circumferential skin creases 2
Definition	A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the MAPRE2 gene on chromosome 18q12.1-q12.2. https://pubmed.ncbi.nlm.nih.gov/26637975/
Xrefs	OMIM:616734
Synonyms	CSCSC2 [EXACT]
Parent Relationships	is_a multiple benign circumferential skin creases on limbs is_a autosomal dominant disease