| Metadata | |
|---|---|
| ID | DOID:0060982 |
| PURL | http://purl.obolibrary.org/obo/DOID_0060982 Copy |
| Name | mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition |
| Definition | A mosaic variegated aneuploidy syndrome that is characterized by increased susceptibility to benign and malignant neoplasms beginning in early childhood that has_material_basis_in compound heterozygous mutation in the MAD1L1 gene on chromosome 7p22. https://pubmed.ncbi.nlm.nih.gov/36322655/ |
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