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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 MAPRE2 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

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