Details of Disease

General Information of Disease (ID: DISMDGYH)

Disease Name Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
Synonyms Myopathy, Congenital, Due to Myod1 Deficiency; MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
Disease Hierarchy
DISLSK9G: Congenital myopathy
DISMDGYH: Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
Disease Identifiers
MONDO ID
MONDO_0033548
UMLS CUI
C5436530
OMIM ID
618975
MedGen ID
1764743

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
MYOD1 OTV2S79X Strong Autosomal recessive [1]
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References

1 Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia. J Med Genet. 2016 Apr;53(4):264-9. doi: 10.1136/jmedgenet-2015-103620. Epub 2016 Jan 5.