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DOID:0080142 - mosaic variegated aneuploidy syndrome 2
Disease Ontology 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.
Synonyms:
Echinobase Genes
:
cep57
| MIM:614114 - mosaic variegated aneuploidy syndrome 2; mva2 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
mosaic variegated aneuploidy syndrome (is_a),
syndrome (is_a)