platelet storage pool deficiency

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Information
Disease name
platelet storage pool deficiency
Disease ID
DOID:2223
Description
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT00001596 Completed Phase 2 Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome September 2005 May 9, 2016
NCT05529394 Not yet recruiting Effect of Storage Condition on CD47 Expression Level in Platelet Concentrate December 20, 2022 December 2025
NCT00467831 Terminated Phase 1/Phase 2 Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome April 2007 November 2012
Disase is a (Disease Ontology)
DOID:2218
Cross Reference ID (Disease Ontology)
GARD:5034
Cross Reference ID (Disease Ontology)
MESH:D010981
Cross Reference ID (Disease Ontology)
MIM:185050
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:234474009
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0032197
Exact Synonym (Disease Ontology)
Dense body defect
Exact Synonym (Disease Ontology)
Platelet dense granule deficiency
Exact Synonym (Disease Ontology)
Platelet storage pool defect
MeSH unique ID (MeSH (Medical Subject Headings))
D010981