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Download Data for umls:C2749283
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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.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
High level summary of knowledge for a disease, including descriptions and datasource references.
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Opens the Target List with this set of targets
Download Data for pyruvate carboxylase deficiency disease
This disease has been annotated by GARD as a rare disease.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DOID:3651
EFO:1001142
GARD:0007512
MESH:D015324
NCIT:C85040
OMIM:266150
Orphanet:3008
SCTID:87694001
UMLS:C0034341
UMLS:C2931141
UMLS:CN203409
MONDO:0009949