Details of Disease

General Information of Disease (ID: DISMALYT)

Disease Name Cornea plana 2
Synonyms CNA2; cornea plana 2, autosomal recessive; KERA cornea plana; cornea plana type 2; cornea plana 2; cornea plana caused by mutation in KERA
Definition Any cornea plana in which the cause of the disease is a mutation in the KERA gene.
Disease Hierarchy
DISE38HI: Cornea plana
DISMALYT: Cornea plana 2
Disease Identifiers
MONDO ID
MONDO_0009014
MESH ID
C565677
UMLS CUI
C1857574
OMIM ID
217300
MedGen ID
346616

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KERA OTAP9L2A Strong Autosomal recessive [1]
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References

1 Mutations in KERA, encoding keratocan, cause cornea plana. Nat Genet. 2000 May;25(1):91-5. doi: 10.1038/75664.