Use Cases
Submit Feedback
Download Data for syndromic neurometabolic disease with non-X-linked intellectual disability
data still loading...
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.
Orphanet:182073
UMLS:CN200517
MONDO:0015919
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