| Metadata | |
|---|---|
| ID | DOID:0111809 |
| Name | syndromic microphthalmia 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. https://pubmed.ncbi.nlm.nih.gov/19367324/, https://www.ncbi.nlm.nih.gov/pubmed/8723122, https://ghr.nlm.nih.gov/condition/oculofaciocardiodental-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/15004558 |
| Xrefs |
SNOMEDCT_US_2023_03_01:699300009 |
| Subsets |
DO_rare_slim |
| Synonyms |
ANOP2 [EXACT] cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome [EXACT] MAA2 [EXACT] MCOPS2 [EXACT] microphthalmia cataracts radiculomegaly and septal heart defects [EXACT] oculofaciocardiodental syndrome [EXACT] OFCD syndrome [EXACT] syndromic microphthalmia type 2 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked dominant inheritance |