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Mondo Disease Ontology
| Preferred Name | gray platelet syndrome | |
| Synonyms |
marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins bleeding disorder, Platelet-type, 4 platelet alpha-granule deficiency Alpha storage pool deficiency BDPLT4 platelet-type bleeding disorder 4 GPS gray platelet syndrome |
|
| 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 |
icd11.foundation:1818085572 UMLS:C0272302 MESH:D055652 DOID:0111044 GARD:2562 SCTID:51720005 NCIT:C84741 OMIM:139090 Orphanet:721 MEDGEN:82900
|
|
| 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.
|
|
| has_exact_synonym |
platelet alpha-granule deficiency Alpha storage pool deficiency BDPLT4 platelet-type bleeding disorder 4 GPS gray platelet syndrome
|
|
| has_related_synonym |
marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins bleeding disorder, Platelet-type, 4
|
|
| id |
MONDO:0007686
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder |
|
| label |
gray platelet syndrome
|
|
| notation |
MONDO:0007686
|
|
| prefLabel |
gray platelet syndrome
|
|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/2562/gray-platelet-syndrome |
|
| skos_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 |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0020117 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0020117 |
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