Use Cases
Submit Feedback
Download Data for Severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency
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.
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
Download Data for distal myopathy with vocal cord weakness
Description from Mondo Disease Ontology.
GARD:0001887
Orphanet:600
UMLS:CN205357
MONDO:0018951