syndromic microphthalmia 5 Disease Ontology Browser

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Disease Ontology Browser

syndromic microphthalmia 5 (DOID:0111806)
Alliance: disease page
Synonyms: MCOPS5; syndromic microphthalmia type 5; syndromic microphthalmia/anophthalmia due to OTX2 mutation
Alt IDs: OMIM:610125, MESH:C566441, ORDO:178364, UMLS_CUI:C1864690
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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