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Download Data for cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia 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 UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
EFO:0009031
GARD:0012845
OMIM:616368
Orphanet:444077
SCTID:764455002
UMLS:C4085597
MONDO:0014609
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