mosaic variegated aneuploidy syndrome 2

Summary

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:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: cep57

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013582 - metapodium bone 2

MONDO:0013582 - metapodium bone 2

MIM:

MIM:614114 - MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2; MVA2

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)