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loading...| Preferred Name | Epstein Syndrome | |
| Synonyms |
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| Definitions |
An autosomal dominant disorder characterized by thrombocytopenia, giant platelets, nephritis, and deafness; it is associated with mutation of the MYH9 gene. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C131639 |
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| ALT_DEFINITION |
An autosomal dominant disorder characterized by thrombocytopenia, giant platelets, nephritis, and deafness; it is associated with mutation of the MYH9 gene. |
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| code |
C131639 |
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| Contributing_Source |
NICHD |
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| definition |
An autosomal dominant disorder characterized by thrombocytopenia, giant platelets, nephritis, and deafness; it is associated with mutation of the MYH9 gene. |
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| in_subset | ||
| label |
Epstein Syndrome |
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| Preferred_Name |
Epstein Syndrome |
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| prefixIRI |
NCIT:C131639 |
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| prefLabel |
Epstein Syndrome |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0398641 |
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| subClassOf |
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