Details of Disease

General Information of Disease (ID: DISFIR5T)

Disease Name Laterality defects, autosomal dominant
Synonyms laterality defects dominant; laterality defects, autosomal dominant
Disease Hierarchy
DIS1DV90: Visceral heterotaxy
DISFIR5T: Laterality defects, autosomal dominant
Disease Identifiers
MONDO ID
MONDO_0010991
MESH ID
C563391
UMLS CUI
C1832813
OMIM ID
601086
MedGen ID
322042

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
ANKS3 OTFXNRZD Limited Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.