Details of Disease

General Information of Disease (ID: DISBT35O)

Disease Name Myopia 23, autosomal recessive
Synonyms MYP23; myopia 23, autosomal recessive
Disease Hierarchy
DISK5S60: Myopia
DISBT35O: Myopia 23, autosomal recessive
Disease Identifiers
MONDO ID
MONDO_0014183
UMLS CUI
C3809482
OMIM ID
615431
MedGen ID
815812

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
LRPAP1 OT6DVD2Q Strong Autosomal recessive [1]
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References

1 Mutations in LRPAP1 are associated with severe myopia in humans. Am J Hum Genet. 2013 Aug 8;93(2):313-20. doi: 10.1016/j.ajhg.2013.06.002. Epub 2013 Jul 3.