loading...| Preferred Name |
MYH9-related disease |
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| Synonyms |
MYH9-related syndromic thrombocytopenia MYH9-related syndrome MYH9-related disorder MYH9-RD |
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| Definitions |
MYH9-related disease (MYH9-RD) is 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). |
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| ID |
http://www.orpha.net/ORDO/Orphanet_182050 |
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| database_cross_reference |
ICD10:D69.4 MedDRA:10079437 OMIM:600208 OMIM:155100 OMIM:153650 OMIM:605249 |
|
| definition |
MYH9-related disease (MYH9-RD) is 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). |
|
| definition_citation |
orphanet |
|
| has_exact_synonym |
MYH9-related syndromic thrombocytopenia MYH9-related syndrome MYH9-related disorder MYH9-RD |
|
| label |
MYH9-related disease |
|
| preferred label |
MYH9-related disease |
|
| prefLabel |
MYH9-related disease |
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| subClassOf |