Congenital Symmetric Circumferential Skin Creases 2
Disease ID: disease_node_19997
Connections displayed (default: 10).
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| Dbxref | MIM:616734 |
|---|---|
| Subclassof | DOID_0050736, DOID_0112241 |
| Data Source | DOID |
| Synonyms | CSCSC2 |
| Doid Label | congenital symmetric circumferential skin creases 2 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19997 |
| Doid Id | DOID_0112243 |
| Label | Congenital Symmetric Circumferential Skin Creases 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Multiple Benign Circumferential Skin Creases On Limbs(ID:disease_node_19998) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)