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hereditary thrombocytosis with transverse limb defect
Disease Summary
Associated Targets ()
Mondo Description Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.
Mondo Term and Equivalent IDs
MONDO:0018000: hereditary thrombocytosis with transverse limb defect
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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.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
Orphanet:329319
UMLS:CN204208
MONDO:0018000
High level summary of knowledge for a disease, including descriptions and datasource references.