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DOID:0111811 - syndromic microphthalmia 13
Disease Ontology Definition:A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in the HMGB3 gene on chromosome Xq28.
Synonyms: MCOPS13, Maine microphthalmos, X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome, colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation,
Xenbase Genes : hmgb3
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee