About   Help   FAQ
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 dental radiculomegaly, congenital cataract, microphthalmia, facial dismorphism and congenital heart disease that has_material_basis_in heterozygous mutation in the BCOR gene on chromosome Xp11.4.

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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/05/2024
MGI 6.24 		The Jackson Laboratory