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Megalocornea

Disease ID: disease_node_18785

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DbxrefMIM:249300, MIM:309300, ORDO:91489, SNOMEDCT_US_2023_03_01:204118005, UMLS_CUI:C0344530
SubclassofDOID_10124, DOID_0080012
Data SourceDOID
Synonymsanterior megalophthalmos, congenital anterior megalophthalmia
Doid Labelmegalocornea
Doid DescriptionA 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. NT MGI.
Has Material Basis InGENO_0000149
Disease Node Iddisease_node_18785
Doid IdDOID_0060305
LabelMegalocornea