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Disease Ontology Browser
syndromic microphthalmia 2 (DOID:0111809)
Alliance: disease page
Synonyms: ANOP2; cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome; MAA2; MCOPS2; microphthalmia cataracts radiculomegaly and septal heart defects; oculofaciocardiodental syndrome; OFCD syndrome; syndromic microphthalmia type 2
Alt IDs: OMIM:300166, MESH:C537465, ORDO:2712, UMLS_CUI:C1846265
Definition: A syndromic microphthalmia characterized by ocular defects including microphthalmia, microcornea, and congentital cataract; facial dysmorphism including septate nasal cartilage with high nasal bridge; congenital heart defects, most commonly a septal defect; and dental anomalies, most commonly persistent primary teeth and radiculomegaly that has_material_basis_in mutation in the BCL6 corepressor gene on chromosome Xp11.

Disease References using Mouse Models (1)
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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03/25/2025
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