loading...| Preferred Name |
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
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| Synonyms |
Brodie Chole griffin syndrome MHA bleeding disorder, Platelet-type, 6 matins macrothrombocytopenia progressive deafness Alport syndrome with macrothrombocytopenia, formerly macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions FTNS macrothrombocytopenia, nephritis, and deafness MYH9 related thrombocytopenia MYH9 related disorders Alport syndrome with macrothrombocytopenia macrothrombocytopenia with dispersed leukocytic inclusions May-Hegglin thrombocytopenia Dohle leukocyte inclusions with giant platelets macrothrombocytopenia with leukocyte inclusions SBS MYH-9 related disease MYH9-RD giant platelet syndrome with thrombocytopenia Sebastian platelet syndrome May-Hegglin anomaly Epstein syndrome MYH9-related disease macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss macrothrombocytopenia and progressive sensorineural deafness MYH9-related syndrome Sebastian syndrome MYH9-related disorder MYH9-related syndromic thrombocytopenia Fechtner syndrome |
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| Definitions |
An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0015912 |
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| altLabel |
Brodie Chole griffin syndrome MHA bleeding disorder, Platelet-type, 6 matins macrothrombocytopenia progressive deafness Alport syndrome with macrothrombocytopenia, formerly macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions FTNS macrothrombocytopenia, nephritis, and deafness MYH9 related thrombocytopenia MYH9 related disorders Alport syndrome with macrothrombocytopenia macrothrombocytopenia with dispersed leukocytic inclusions May-Hegglin thrombocytopenia Dohle leukocyte inclusions with giant platelets macrothrombocytopenia with leukocyte inclusions SBS MYH-9 related disease MYH9-RD giant platelet syndrome with thrombocytopenia Sebastian platelet syndrome May-Hegglin anomaly Epstein syndrome MYH9-related disease macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss macrothrombocytopenia and progressive sensorineural deafness MYH9-related syndrome Sebastian syndrome MYH9-related disorder MYH9-related syndromic thrombocytopenia Fechtner syndrome |
|
| definition |
An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD. |
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| has_exact_synonym |
MYH-9 related disease MYH9-RD giant platelet syndrome with thrombocytopenia Sebastian platelet syndrome May-Hegglin anomaly Epstein syndrome MYH9-related disease macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss macrothrombocytopenia and progressive sensorineural deafness MYH9-related syndrome Sebastian syndrome MYH9-related disorder MYH9-related syndromic thrombocytopenia Fechtner syndrome |
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| has_related_synonym |
Brodie Chole griffin syndrome MHA bleeding disorder, Platelet-type, 6 matins macrothrombocytopenia progressive deafness Alport syndrome with macrothrombocytopenia, formerly macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions FTNS macrothrombocytopenia, nephritis, and deafness MYH9 related thrombocytopenia MYH9 related disorders Alport syndrome with macrothrombocytopenia macrothrombocytopenia with dispersed leukocytic inclusions May-Hegglin thrombocytopenia Dohle leukocyte inclusions with giant platelets macrothrombocytopenia with leukocyte inclusions SBS |
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| label |
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
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| prefixIRI |
MONDO:0015912 |
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| prefLabel |
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/180/myh9-related-thrombocytopenia |
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| textual definition |
An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD. |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0000009 |