Terminology Service for NFDI4Health
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Epstein Syndrome

Go to external page http://purl.obolibrary.org/obo/NCIT_C131639

An autosomal dominant disorder characterized by thrombocytopenia, giant platelets, nephritis, and deafness; it is associated with mutation of the MYH9 gene. [ ]

Term info

Label

Epstein Syndrome

Synonyms
  • Epstein Syndrome
Subsets

NCIT_C90259, NCIT_C132009

ALT DEFINITION

An autosomal dominant disorder characterized by thrombocytopenia, giant platelets, nephritis, and deafness; it is associated with mutation of the MYH9 gene.

Has NICHD Parent

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

NICHD Hierarchy Term

Epstein Syndrome

Preferred Name

Epstein Syndrome

Semantic Type

Disease or Syndrome

UMLS CUI

C0398641

code

C131639