Mosaic Variegated Aneuploidy Syndrome 2
Disease ID: disease_node_20290
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| Dbxref | MIM:614114 |
|---|---|
| Subclassof | DOID_0080688, DOID_0050737 |
| Data Source | DOID |
| Doid Label | mosaic variegated aneuploidy syndrome 2 |
| Doid Description | A mosaic variegated aneuploidy syndrome that is characterized by slowly before and after birth and typically normal head size and that has_material_basis_in homozygous or compound heterozygous mutation in the CEP57 gene on chromosome 11q21. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20290 |
| Doid Id | DOID_0080142 |
| Label | Mosaic Variegated Aneuploidy Syndrome 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)