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Human Disease

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 ocular defects including microphthalmia, microcornea, and congentital cataract; facial dysmorphism including septate nasal cartilage with high nasal bridge; congenital heart defects, most commonly a septal defect; and dental anomalies, most commonly persistent primary teeth and radiculomegaly that has_material_basis_in mutation in the BCL6 corepressor gene on chromosome Xp11. (4)
References
Ontology
Human Disease   ( DOID:0111809 )
Relationships
is a type of
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Genes Involved
Zebrafish Models