syndromic microphthalmia 5

Summary

DOID:0111806 - syndromic microphthalmia 5

Disease Ontology Definition:A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q22.3.

Synonyms: MCOPS5, syndromic microphthalmia/anophthalmia due to OTX2 mutation, syndromic microphthalmia type 5

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

: otx2

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

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

Parent(s): autosomal dominant disease (is_a), syndromic microphthalmia (is_a)