Mosaic Variegated Aneuploidy Syndrome 3
Disease ID: disease_node_20289
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| Dbxref | MIM:617598 |
|---|---|
| Subclassof | DOID_0080688, DOID_0050737 |
| Data Source | DOID |
| Doid Label | mosaic variegated aneuploidy syndrome 3 |
| Doid Description | A mosaic variegated aneuploidy syndrome that has_material_basis_in homozygous mutation in the TRIP13 gene on chromosome 5p15 that results in no detectable TRIP13 protein. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20289 |
| Doid Id | DOID_0080689 |
| Label | Mosaic Variegated Aneuploidy Syndrome 3 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)