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
- 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
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- GARD:4628
- MESH:C537465
- MIM:300166
- ORDO:2712
- SNOMEDCT_US_2023_03_01:699300009
- UMLS_CUI:C1846265
- Ontology
- Human Disease ( DOID:0111809 )
- is a type of
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Genes Involved
Zebrafish Models