Details of Disease

General Information of Disease (ID: DISBA0K2)

Disease Name Myopathy, congenital, with respiratory insufficiency and bone fractures
Synonyms MYORIBF; MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES
Disease Hierarchy
DISLSK9G: Congenital myopathy
DISBA0K2: Myopathy, congenital, with respiratory insufficiency and bone fractures
Disease Identifiers
MONDO ID
MONDO_0032936
UMLS CUI
C5394189
OMIM ID
618822
MedGen ID
1718097

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
FXR1 OTEMQ1SR Strong Autosomal recessive [1]
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References

1 [Anatomic-radiographic study of the maxillary sinus in adults]. Rev Odontol Concepcion. 1967 Oct-Dec;12(2):61-72.