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Download Data for Johanson-Blizzard 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.
This disease has been annotated by GARD as a rare disease.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:14694
EFO:0001063
GARD:0000080
MESH:C535880
MESH:C564907
OMIM:243800
OMIM:260450
Orphanet:2315
SCTID:75979009
UMLS:C0175692
UMLS:C1850081
MONDO:0009479
High level summary of knowledge for a disease, including descriptions and datasource references.
click for section description and definitions
Opens the Target List with this set of targets