Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies

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Subtype of: Congenital myopathy · Myopathy
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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
MONDO_0033548
MYOD1 Causal
26733463 31260566 30403323
Open Targets
All1 Causal1 Unknown0
Related Diseases Diseases that share the most curated genes with Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies.
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Spindle cell rhabdomyosarcoma 1 shared geneMYOD1 Related via 1 shared gene including MYOD1. Fetal akinesia deformation sequence 1 shared geneMYOD1 Related via 1 shared gene including MYOD1. Lymphangiosarcoma 1 shared geneMYOD1 Related via 1 shared gene including MYOD1. Congenital myopathy 1 shared geneMYOD1 Related via 1 shared gene including MYOD1. Pena-shokeir syndrome 1 shared geneMYOD1 Related via 1 shared gene including MYOD1.