Details of Disease

General Information of Disease (ID: DIS4FE14)

Disease Name Endove syndrome, limb-only type
Synonyms ENDOVESL; Mesomelia of Lower Extremities With Hand and Foot Anomalies
Disease Hierarchy
DISYKSRF: Genetic disease
DIS4FE14: Endove syndrome, limb-only type
Disease Identifiers
MONDO ID
MONDO_0030978
UMLS CUI
C5543128
OMIM ID
619217
MedGen ID
1787128

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
EN1 OT2DKIDK Limited Unknown [1]
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References

1 Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. Nature. 2021 Apr;592(7852):93-98. doi: 10.1038/s41586-021-03208-9. Epub 2021 Feb 10.