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Summary Literature (0)
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 OTX2 on chromosome 14q22.3.

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

Referenced OMIM:
OMIM:610125 - MICROPHTHALMIA, SYNDROMIC 5; MCOPS5

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : otx2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal dominant disease (is_a), syndromic microphthalmia (is_a)


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