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syndromic microphthalmia 2
Summary
- Synonym
-
- ANOP2
- MAA2
- MCOPS2
- OFCD syndrome
- cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome
- microphthalmia cataracts radiculomegaly and septal heart defects
- oculofaciocardiodental 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.
- Super Class
- X-linked dominant disease syndromic microphthalmia
External Links
- Disease Ontology
- DOID:0111809
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
