Details of Disease

General Information of Disease (ID: DISNX3L0)

Disease Name Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
Disease Hierarchy
DISF24LW: Myofibrillar myopathy
DISNX3L0: Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
Disease Identifiers
MONDO ID
MONDO_0044647
UMLS CUI
C5567453
MedGen ID
1798876
Orphanet ID
496686
SNOMED CT ID
1172591008

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
KY OTK1L8VX Supportive Autosomal recessive [1]
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References

1 Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects. Acta Neuropathol. 2016 Sep;132(3):475-8. doi: 10.1007/s00401-016-1602-9. Epub 2016 Aug 2.