Search Ontology:
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
(all 8)
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
(all 6)
Ontology
Human Disease   ( DOID:0111809 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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