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DO Term : megalocornea [DOID:0060305] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
309300,
SNOMEDCT_US_2023_03_01:204118005,
OMIM:309300,
congenital anterior megalophthalmia,
anterior megalophthalmos,
UMLS_CUI:C0344530,
OMIM:249300,
ORDO:91489,
249300

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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