Details of Disease

General Information of Disease (ID: DISHJZ4P)

Disease Name Fetal akinesia deformation sequence 3
Synonyms FADS3
Definition Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the DOK7 gene.
Disease Hierarchy
DISAOT9S: Fetal akinesia deformation sequence
DISHJZ4P: Fetal akinesia deformation sequence 3
Disease Identifiers
MONDO ID
MONDO_0100103
UMLS CUI
C4760599
OMIM ID
618389
MedGen ID
1680087

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
DOK7 OTR2V7HO Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 The muscle protein Dok-7 is essential for neuromuscular synaptogenesis. Science. 2006 Jun 23;312(5781):1802-5. doi: 10.1126/science.1127142.