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Summary Literature (0)
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: colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation, Maine microphthalmos, MCOPS13, X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome

Xenbase Genes : hmgb3


MIM:
MIM:300915 - MICROPHTHALMIA, SYNDROMIC 13; MCOPS13

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

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