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| Term | megalocornea | ID (Ontology) | DOID:0060305 (Human Disease) |
| Definition | A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene. | ||
| Also Known As | "anterior megalophthalmos" ; "congenital anterior megalophthalmia" | ||
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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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X-linked monogenic disease |__X-linked recessive disease__ eye disease | |__corneal disease_____________| megalocornea |
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| Is a |
X-linked recessive disease corneal disease |
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External Crossreferences & Linkouts
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MIM:249300 MIM:309300 ORDO:91489 SNOMEDCT_US_2023_03_01:204118005 UMLS_CUI:C0344530 |
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