Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
DOID:0111809 - syndromic microphthalmia 2

Disease Ontology 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.

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

Xenbase Genes : bcor


MIM:
MIM:300166 - MICROPHTHALMIA, SYNDROMIC 2; MCOPS2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): syndromic microphthalmia (is_a), X-linked dominant disease (is_a)