syndromic microphthalmia 13

Summary

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 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

: hmgb3

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): X-linked monogenic disease (is_a), syndromic microphthalmia (is_a)