Details of Disease | DrugMAP

General Information of Disease (ID: DISKMOUS)

Disease Name	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
Synonyms	IMNEPD2
Disease Hierarchy	DISBSOMZ: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset DISKMOUS: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
Disease Identifiers	MONDO ID MONDO_0030375 UMLS CUI C5543623 OMIM ID 619418 MedGen ID 1778117

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
YARS1	OTG81SGD	Strong	Autosomal recessive	[1]
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References

1	A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene. Am J Med Genet A. 2017 Jan;173(1):126-134. doi: 10.1002/ajmg.a.37973. Epub 2016 Sep 15.