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- B2e9860950274cb1523fa9960ebae9f67 hasDbXref "PMID:25397911" @default.
- B2e9860950274cb1523fa9960ebae9f67 hasDbXref "PMID:25619630" @default.
- B2e9860950274cb1523fa9960ebae9f67 hasDbXref "PMID:25624456" @default.
- B2e9860950274cb1523fa9960ebae9f67 hasDbXref "PMID:28637621" @default.
- B2e9860950274cb1523fa9960ebae9f67 hasDbXref "https://github.com/monarch-initiative/mondo/issues/261" @default.
- B2e9860950274cb1523fa9960ebae9f67 type Axiom @default.
- B2e9860950274cb1523fa9960ebae9f67 annotatedProperty IAO_0000115 @default.
- B2e9860950274cb1523fa9960ebae9f67 annotatedSource MONDO_0042982 @default.
- B2e9860950274cb1523fa9960ebae9f67 annotatedTarget "A disorder arising from deficiency in the GATA2 with a wide spectrum of phenotypes. Autosomal dominant mutations of GATA2 cause a haploinsufficiency, which, in consequence, cause individuals to develop hematological, immunological, lymphatic, or other presentations. These often progress to severe organ (e.g. lung) failure, opportunistic infections, myelodysplastic syndrome, and/or acute myeloid leukemia. The most common clinical denominator is the propensity for myeloid neoplasia (myelodysplastic syndrome [MDS], myeloproliferative neoplasms [MPN], chronic myelomonocytic leukemia [CMML], acute myeloid leukemia [AML])." @default.