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permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Disease Summary
Associated Targets (1)
Tbio
1
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
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MESH:C563796
OMIM:609069
Orphanet:65288
UMLS:C1836780
MONDO:0012192
High level summary of knowledge for a disease, including descriptions and datasource references.