loading...| Preferred Name |
MYH9-Related Disorders |
|
| Synonyms |
Sebastian platelet syndrome May-Hegglin anomaly Macrothrombocytopathy, Nephritis, and Deafness Fechtner syndrome Myh9-Related Macrothrombocytopenias Fechtner's syndrome Deafness, Autosomal Dominant 17 Alport Syndrome with Leukocyte Inclusions and Macrothrombocytopenia DFNA17 Macrothrombocytopathy, nephritis, deafness, and leukocyte inclusions MYH9RD Alport syndrome with macrothrombocytopenia MYH9-Related Disease MYH9 Gene-Related Autosomal Macrothrombocytopenias Dohle leukocyte inclusions with giant platelets Macrothrombocytopenia with leukocyte inclusions Autosomal Dominant Myh9 Spectrum Disorders Sebastian syndrome Myh9-Related Disorder Epstein syndrome |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C535507 |
|
| altLabel |
Sebastian platelet syndrome May-Hegglin anomaly Macrothrombocytopathy, Nephritis, and Deafness Fechtner syndrome Myh9-Related Macrothrombocytopenias Fechtner's syndrome Deafness, Autosomal Dominant 17 Alport Syndrome with Leukocyte Inclusions and Macrothrombocytopenia DFNA17 Macrothrombocytopathy, nephritis, deafness, and leukocyte inclusions MYH9RD Alport syndrome with macrothrombocytopenia MYH9-Related Disease MYH9 Gene-Related Autosomal Macrothrombocytopenias Dohle leukocyte inclusions with giant platelets Macrothrombocytopenia with leukocyte inclusions Autosomal Dominant Myh9 Spectrum Disorders Sebastian syndrome Myh9-Related Disorder Epstein syndrome |
|
| cui |
C5200934 C1863659 |
|
| Has mapping qualifier | ||
| HM |
D006319 D013921/Q000151 |
|
| Inverse of RB |
0 |
|
| Mapped to | ||
| MDA |
20100825 |
|
| MeSH Frequency |
138 |
|
| MMR |
20150818 |
|
| notation |
C535507 |
|
| prefLabel |
MYH9-Related Disorders |
|
| SC |
3 |
|
| Scope Statement |
A spectrum of disorders caused by mutations in the MYH9 gene (OMIM: 160775) and characterized by thrombocytopenia, large platelets, and distinct lleukocyte inclusions (Dohle-like bodies); sensorineural deafness, CATARACTS, and NEPHRITIS may also occur. |
|
| TERMUI |
T840073 T736328 T840072 T808330 T742903 T738041 T738038 T842091 T742904 T736330 T826139 T741385 T826159 T840148 T741388 T823800 T738040 T842090 T741386 T842089 T850372 |
|
| TH |
OMIM (2013) NLM (2010) GHR (2014) NLM (2014) ORD (2010) |
|
| tui |
T047 |