OBO ID: DOID:0111809
Term Name: syndromic microphthalmia 2 Search Ontology:
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:
Ontology: Human Disease   ( DOID:0111809 )
Relationships
is a type of:
OTHER syndromic microphthalmia 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
BCOR Microphthalmia, syndromic 2 300166
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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