WormBase Tree Display for DO_term: DOID:0080142
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DOID:0080142 | Name | mosaic variegated aneuploidy syndrome 2 | |||
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Status | Valid | ||||
Definition | 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. | ||||
Parent | Is_a | DOID:0050737 | |||
DOID:0080688 | |||||
DB_info | Database | OMIM | disease | 614114 |