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| Term | syndromic microphthalmia 9 | ID (Ontology) | DOID:0111807 (Human Disease) |
| Definition | A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24.1. | ||
| Also Known As | "anophthalmia-pulmonary hypoplasia syndrome" ; "anophthalmia/microphthalmia and pulmonary hypoplasia" ; "clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ microphthalmia | |__syndromic microphthalmia_____| syndromic microphthalmia 9 |
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| Is a |
autosomal recessive disease syndromic microphthalmia |
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External Crossreferences & Linkouts
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MESH:C537768 MIM:601186 ORDO:2470 SNOMEDCT_US_2023_03_01:722458000 UMLS_CUI:C1832661 |
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