| Metadata | |
|---|---|
| ID | DOID:0111809 |
| Name | syndromic microphthalmia 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. https://ghr.nlm.nih.gov/condition/oculofaciocardiodental-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/15004558, https://www.ncbi.nlm.nih.gov/pubmed/8723122 |
| 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 |