Term Name: | mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0060982] ( DOID:0060982 ) |