loading...| Preferred Name |
Gray Platelet Syndrome |
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| Synonyms |
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| Definitions |
An inherited blood coagulation disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has material basis in heterozygous mutation in the GFI1B gene on chromosome 9q34. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00037342 |
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| Database_Cross_Reference |
MTH:NOCODE ICD10CM:D69.1 RCD:X20F0 SNOMEDCT_US:51720005 SNMI:DC-61940 SNM:D-4494 NCI:C84741 NDFRT:N0000181115 DO:DOID:0111044 MSH:D055652 RCDAE:X20F0 DO:DOID:0111049 OMIM:139090 OMIM:614169 CHV:0000026713 |
|
| Definition |
An inherited blood coagulation disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has material basis in heterozygous mutation in the GFI1B gene on chromosome 9q34. |
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| label |
Gray Platelet Syndrome |
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| MCID |
MC00095654 |
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| PMOID |
PMO:00037342 |
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| prefixIRI |
pmo:PMO_00037342 |
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| prefLabel |
Gray Platelet Syndrome |
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| Synonym |
Platelet granule defect platelet alpha-granule deficiency GRAY PLATELET SYNDROME Gray platelet syndrome (disorder) Platelet Syndromes, Grey Gray platelet syndrome platelet-type bleeding disorder 17 grey platelet syndrome Grey Platelet Syndrome Deficient alpha granule syndrome BDPLT4 hereditary thrombasthenia-thrombocytopenia platelet-type bleeding disorder 4 Syndrome, Gray Platelet Grey Platelet Syndromes GPS Gray Platelet Syndrome [Disease/Finding] PLATELET ALPHA-GRANULE DEFICIENCY Platelet alpha granule deficiency Syndrome, Grey Platelet BDPLT17 gray platelet syndrome Gray Platelet Syndromes BLEEDING DISORDER, PLATELET-TYPE, 4 Syndromes, Gray Platelet Grey platelet syndrome |
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| Tree Number |
T9.5.2.14.9.7 T9.8.4.5.7 T9.5.2.5.5 |
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| subClassOf |