Absent platelet dense granules

obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features

http://obophenotype.github.io/human-phenotype-ontology/

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Absent platelet dense granules #6421

Closed pnrobinson closed 3 years ago

pnrobinson commented 4 years ago

Preferred term label: https://hpo.jax.org/app/browse/term/HP:0012530

Synonyms Absent platelet dense bodies

Definition (free text, please give PubMed ID)

Parent term (use hpo.jax.org/app)

Diseases characterized by this term ? (e.g. Orphanet or OMIM number) 608233 PMID:11809908 1/1

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pnrobinson commented 4 years ago

Also, Analysis of PFA-fixed platelets loaded with calcium by electron microscopy showed a large reduction in the number of dense granules (mean numbers of 1 per patient platelet versus 3.55 per control platelet same disease https://pubmed.ncbi.nlm.nih.gov/16551969/

pnrobinson commented 4 years ago

Also abnormal size of dense granules, see Figure 7 of https://pubmed.ncbi.nlm.nih.gov/16551969/

pnrobinson commented 3 years ago

done