Mosaic Variegated Aneuploidy Syndrome 1
Disease ID: disease_node_20291
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| Dbxref | MIM:257300 |
|---|---|
| Subclassof | DOID_0080688, DOID_0050737 |
| Data Source | DOID |
| Doid Label | mosaic variegated aneuploidy syndrome 1 |
| Doid Description | A mosaic variegated aneuploidy syndrome that is characterized by slow growth before and after birth, shorter than average height, unusually small head size, and an increased risk of developing cancer in childhood, and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1B gene on chromosome 15q15. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20291 |
| Doid Id | DOID_0080141 |
| Label | Mosaic Variegated Aneuploidy Syndrome 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)