Use Cases
Submit Feedback
Download Data for short stature-optic atrophy-Pelger-HuC+t anomaly syndrome
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.
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.
GARD:0010945
OMIM:614800
Orphanet:391677
UMLS:C3541319
MONDO:0013889
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