National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
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Preferred Name

Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss
Synonyms

Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss
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.
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C158788
code

C158788
Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258
Contributing_Source

Cellosaurus
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.
FULL_SYN

Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss
label

Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss
NCI_META_CUI

CL950689
Preferred_Name

Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss
prefixIRI

Thesaurus:C158788
Semantic_Type

Disease or Syndrome
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543
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