Details of Disease | DrugMAP

General Information of Disease (ID: DISANCCX)

Disease Name	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1
Synonyms	neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset; infantile-onset multisystem neurologic, endocrine, and pancreatic disease; IMNEPD
Disease Hierarchy	DISBSOMZ: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset DISANCCX: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1
Disease Identifiers	MONDO ID MONDO_8000012 UMLS CUI C4015728 OMIM ID 616263 MedGen ID 864165

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
PTRH2	OTBU39Q1	Definitive	Autosomal recessive	[1]
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References

1	Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD. Orphanet J Rare Dis. 2016 Apr 29;11(1):52. doi: 10.1186/s13023-016-0433-z.