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| Term | syndromic microphthalmia 2 | ID (Ontology) | DOID:0111809 (Human Disease) |
| 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. | ||
| Also Known As | "ANOP2" ; "cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome" ; "MAA2" (for all, see Synonyms field below) | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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X-linked monogenic disease |__X-linked dominant disease__ microphthalmia | |__syndromic microphthalmia___| syndromic microphthalmia 2 1 rec. |
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| Is a |
X-linked dominant disease syndromic microphthalmia |
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External Crossreferences & Linkouts
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GARD:4628 MESH:C537465 MIM:300166 ORDO:2712 SNOMEDCT_US_2023_03_01:699300009 UMLS_CUI:C1846265 |
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