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DOID:0111809 - syndromic microphthalmia 2
Disease Ontology 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.
Synonyms: cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome, MAA2, MCOPS2, oculofaciocardiodental syndrome, microphthalmia cataracts radiculomegaly and septal heart defects, ANOP2, OFCD syndrome, syndromic microphthalmia type 2
Xenbase Genes
:
bcor
| MIM:300166 - MICROPHTHALMIA, SYNDROMIC 2; MCOPS2 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view