Details of Disease

General Information of Disease (ID: DISTV1J8)

Disease Name Vitreoretinopathy with phalangeal epiphyseal dysplasia
Synonyms VPED
Disease Hierarchy
DISYKSRF: Genetic disease
DISTV1J8: Vitreoretinopathy with phalangeal epiphyseal dysplasia
Disease Identifiers
MONDO ID
MONDO_0031001
MESH ID
C565179
UMLS CUI
C1852989
OMIM ID
619248
MedGen ID
343940

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
COL2A1 OT5E59C8 Limited Unknown [1]
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References

1 A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration. Am J Ophthalmol. 2002 Feb;133(2):203-10. doi: 10.1016/s0002-9394(01)01339-3.