OBO ID: DOID:0112243 |
Term Name: | congenital symmetric circumferential skin creases 2 | Search Ontology: | |
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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/ | ||
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Ontology: | Human Disease ( DOID:0112243 ) |
OTHER congenital symmetric circumferential skin creases 2 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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