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Experimental Factor Ontology
| Preferred Name | gray platelet syndrome | |
| Synonyms |
bleeding disorder, Platelet-type, 4 marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins Alpha storage pool deficiency gray platelet syndrome platelet alpha-granule deficiency platelet-type bleeding disorder 4 BDPLT4 GPS |
|
| Definitions |
Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0007686 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0007686 |
|
| database_cross_reference |
MEDGEN:82900 icd11.foundation:1818085572 SCTID:51720005 DOID:0111044 NCIT:C84741 MESH:D055652 UMLS:C0272302 Orphanet:721 OMIM:139090 GARD:2562
|
|
| definition |
Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear.
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|
| exactMatch |
http://purl.obolibrary.org/obo/Orphanet_721 http://identifiers.org/snomedct/51720005 http://identifiers.org/mesh/D055652 http://identifiers.org/medgen/82900 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1818085572 http://purl.obolibrary.org/obo/NCIT_C84741 http://linkedlifedata.com/resource/umls/id/C0272302 |
|
| has_exact_synonym |
Alpha storage pool deficiency gray platelet syndrome platelet alpha-granule deficiency platelet-type bleeding disorder 4 BDPLT4 GPS
|
|
| has_related_synonym |
bleeding disorder, Platelet-type, 4 marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins
|
|
| id |
MONDO:0007686
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
gray platelet syndrome
|
|
| notation |
MONDO:0007686
|
|
| preferred label |
gray platelet syndrome
|
|
| prefLabel |
gray platelet syndrome
|
|
| see also |
https://rarediseases.info.nih.gov/diseases/2562/gray-platelet-syndrome |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0020117 |
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