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Summary Literature (0)
DOID:0111802 - syndromic microphthalmia 14

Disease Ontology Definition:A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in the MAB21L2 gene on chromosome 4q31.3.

Synonyms: MCOPS14, MCSKS, colobomatous microphthalmia-rhizomelic dysplasia syndrome, microphthalmia and/or coloboma with or without rhizomelic skeletal dysplasia, microphthalmia/coloboma and skeletal dysplasia syndrome,

Xenbase Genes : mab21l2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal genetic disease (is_a), syndromic microphthalmia (is_a)