Jump to:
loading...| Preferred Name |
Epstein Syndrome |
|
| Synonyms |
Epstein Syndrome |
|
| Definitions |
An autosomal dominant disorder characterized by thrombocytopenia, giant platelets, nephritis, and deafness; it is associated with mutation of the MYH9 gene. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C131639 |
|
| ALT_DEFINITION |
An autosomal dominant disorder characterized by thrombocytopenia, giant platelets, nephritis, and deafness; it is associated with mutation of the MYH9 gene. |
|
| code |
C131639 |
|
| Concept_In_Subset | ||
| Contributing_Source |
NICHD |
|
| DEFINITION |
An autosomal dominant disorder characterized by thrombocytopenia, giant platelets, nephritis, and deafness; it is associated with mutation of the MYH9 gene. |
|
| FULL_SYN |
Epstein Syndrome |
|
| label |
Epstein Syndrome |
|
| Preferred_Name |
Epstein Syndrome |
|
| prefixIRI |
Thesaurus:C131639 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0398641 |
|
| subClassOf |
Create mapping