loading...| Preferred Name |
MYH-9 related disease |
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| Synonyms |
MYH9-RD MYH9-related syndrome MYH9-related disorder MYH9-related syndromic thrombocytopenia MYH9 related thrombocytopenia Sebastian platelet syndrome MYH9 related disorders May-Hegglin anomaly Epstein syndrome MYH9-related disease Sebastian syndrome Fechtner syndrome |
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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). 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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| closeMatch | ||
| database_cross_reference |
GARD:0000180 DOID:0060651 ICD10:D69.4 SCTID:712922002 ICD9:287.33 Orphanet:182050 |
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| exactMatch |
http://www.orpha.net/ORDO/Orphanet_182050 |
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| excluded from QC check |
http://purl.obolibrary.org/obo/mondo/sparql/single-child-tags.sparql |
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| has exact synonym |
MYH9-RD MYH9-related syndrome MYH9-related disorder MYH9-related syndromic thrombocytopenia |
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| has related synonym |
MYH9 related thrombocytopenia Sebastian platelet syndrome MYH9 related disorders May-Hegglin anomaly Epstein syndrome MYH9-related disease Sebastian syndrome Fechtner syndrome |
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| id |
MONDO:0015912 |
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| imported from | ||
| in_subset | ||
| label |
MYH-9 related disease |
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| notation |
MONDO:0015912 |
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| prefLabel |
MYH-9 related disease |
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| see also |
https://rarediseases.info.nih.gov/diseases/180/myh9-related-thrombocytopenia |
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| textual 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). 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 |