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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, MAA2, MCOPS2, OFCD syndrome, cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome, microphthalmia cataracts radiculomegaly and septal heart defects, oculofaciocardiodental syndrome, syndromic microphthalmia type 2,
Xenbase Genes
:
bcor
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
syndromic microphthalmia (is_a)