Terminology Service for NFDI4Health
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Sebastian Syndrome

Go to external page http://purl.obolibrary.org/obo/NCIT_C131650

An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes, without other organ dysfunction; it is associated with mutation of the MYH9 gene. [ ]

Term info

Label

Sebastian Syndrome

Synonyms
  • Sebastian Platelet Syndrome
  • Sebastian Syndrome
Subsets

NCIT_C90259, NCIT_C132009

ALT DEFINITION

An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes, without other organ dysfunction; it is associated with mutation of the MYH9 gene.

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C131634, http://purl.obolibrary.org/obo/NCIT_C28193

NICHD Hierarchy Term

Sebastian Syndrome

Preferred Name

Sebastian Syndrome

Semantic Type

Disease or Syndrome

UMLS CUI

C1854520

code

C131650