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permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.
Uniprot Description A disease characterized by neonatal diabetes mellitus, cerebellar agenesis or hypoplasia, severe intrauterine growth retardation, the presence of very little subcutaneous fat, and dysmorphic facial features.
Mondo Term and Equivalent IDs
MONDO:0012192:  permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
MESH:C563796: 
Orphanet:65288: 
UMLS:C1836780: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found