OBO ID: DOID:0112243
Term Name: congenital symmetric circumferential skin creases 2 Search Ontology:
Synonyms:
  • CSCSC2
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/
References:
Ontology: Human Disease   ( DOID:0112243 )
OTHER congenital symmetric circumferential skin creases 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MAPRE2 Symmetric circumferential skin creases, congenital, 2 616734
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None