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Echinobase
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, MAA2, MCOPS2, microphthalmia cataracts radiculomegaly and septal heart defects, oculofaciocardiodental syndrome, OFCD syndrome, syndromic microphthalmia type 2, cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome

Echinobase Genes :


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)