syndromic microphthalmia 2

Term ID

DOID:0111809

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

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. (3)

References

• GARD:4628
• MESH:C537465
• MIM:300166
• ORDO:2712
• SNOMEDCT_US_2023_03_01:699300009
• UMLS_CUI:C1846265

Ontology

Human Disease   ( DOID:0111809 )