loading...| Preferred Name |
Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss |
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| Synonyms |
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| Definitions |
An autosomal dominant disorder caused by mutation(s) of the MYH9 gene, encoding myosin-9. Clinical features include thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes, and may be associated with other organ dysfunction. It comprises the Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, and Sebastian syndrome-- all of which were previously believed to be distinct entities. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C158788 |
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| code |
C158788 |
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| Contributing_Source |
Cellosaurus |
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| definition |
An autosomal dominant disorder caused by mutation(s) of the MYH9 gene, encoding myosin-9. Clinical features include thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes, and may be associated with other organ dysfunction. It comprises the Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, and Sebastian syndrome-- all of which were previously believed to be distinct entities. |
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| in_subset | ||
| label |
Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss |
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| NCI_META_CUI |
CL950689 |
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| Preferred_Name |
Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss |
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| prefixIRI |
NCIT:C158788 |
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| prefLabel |
Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss |
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| Semantic_Type |
Disease or Syndrome |
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| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.ebi.ac.uk/efo/EFO_0009646 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0015912 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/HIO_0000041 | HIO | LOOM | |
| http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C158788 | NCIT | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/155100 | OMIM | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0015912 | DOVES | LOOM |