FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
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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Spanning Tree (Parents/Children)
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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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Synonyms
  • "anterior megalophthalmos" EXACT
    "congenital anterior megalophthalmia" EXACT
Secondary IDs
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MIM:249300
MIM:309300
ORDO:91489
SNOMEDCT_US_2023_03_01:204118005
UMLS_CUI:C0344530