Details of Disease | DrugMAP

General Information of Disease (ID: DISYSMF5)

Disease Name	Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities
Synonyms	CONRIBA; neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities
Disease Hierarchy	DISYKSRF: Genetic disease DISYSMF5: Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities
Disease Identifiers	MONDO ID MONDO_0030947 UMLS CUI C5543020 OMIM ID 619173 MedGen ID 1781967 Orphanet ID 610573

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CLCN6	TTCJRDO	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CLCN6	OT9QW5R4	Strong	Autosomal dominant	[1]
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References

1	Prevalence and architecture of de novo mutations in developmental disorders. Nature. 2017 Feb 23;542(7642):433-438. doi: 10.1038/nature21062. Epub 2017 Jan 25.