loading...| Preferred Name |
platelet storage pool deficiency |
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| Synonyms |
alpha dense granule deficiency platelet storage pool defect dense body defect combined alpha-delta platelet storage pool deficiency platelet dense granule deficiency storage pool platelet disease alpha delta granule deficiency platelet storage pool diseases |
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| Definitions |
Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0008495 |
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| has_exact_synonym |
alpha dense granule deficiency platelet storage pool defect dense body defect combined alpha-delta platelet storage pool deficiency platelet dense granule deficiency |
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| has_related_synonym |
storage pool platelet disease alpha delta granule deficiency platelet storage pool diseases |
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| label |
platelet storage pool deficiency |
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| prefixIRI |
MONDO:0008495 |
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| prefLabel |
platelet storage pool deficiency |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/5034/platelet-storage-pool-deficiency |
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| textual definition |
Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic. |
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| subClassOf |