Details of Disease

General Information of Disease (ID: DISAXDXQ)

Disease Name Corneal dystrophy, punctiform and polychromatic pre-descemet
Disease Hierarchy
DISRDPA6: Corneal dystrophy
DISAXDXQ: Corneal dystrophy, punctiform and polychromatic pre-descemet
Disease Identifiers
MONDO ID
MONDO_0859248
UMLS CUI
C5676982
OMIM ID
619871
MedGen ID
1806182

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
PRDX3 OTLB2WEU Strong Autosomal dominant [1]
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References

1 Punctiform and Polychromatic Pre-Descemet Corneal Dystrophy: Clinical Evaluation and Identification of the Genetic Basis. Am J Ophthalmol. 2020 Apr;212:88-97. doi: 10.1016/j.ajo.2019.11.024. Epub 2019 Nov 27.