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| Term | syndromic microphthalmia 12 | ID (Ontology) | DOID:0111800 (Human Disease) |
| Definition | A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in the RARB gene on chromosome 3p24.2. | ||
| Also Known As | "MCOPS12" ; "microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects" | ||
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| DO.org | |||
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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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No relevant statements available
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monogenic disease |__autosomal genetic disease__ microphthalmia | |__syndromic microphthalmia___| syndromic microphthalmia 12 |
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| Is a |
autosomal genetic disease syndromic microphthalmia |
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External Crossreferences & Linkouts
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GARD:13235 MIM:615524 |
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