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Metadata
DOID DOID:0060305
Name megalocornea
Definition A corneal disease characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure. It has material basis in mutation in the CHRDL1 gene.
http://en.wikipedia.org/wiki/Megalocornea, http://ghr.nlm.nih.gov/gene/CHRDL1, https://www.ncbi.nlm.nih.gov/pubmed/6849653
Xrefs

MESH:C562829

OMIM:249300

OMIM:309300

ORDO:91489

SNOMEDCT_US_2018_03_01:39978004

UMLS_CUI:C0344530

Subsets

DO_rare_slim

Synonyms

anterior megalophthalmos [EXACT]

congenital anterior megalophthalmia [EXACT]

Relationships

is_a corneal disease

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