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- B0c39f5b2747b28d2bc44016fce7e7107 NCIT_P378 "NCI" @default.
- B0c39f5b2747b28d2bc44016fce7e7107 type Axiom @default.
- B0c39f5b2747b28d2bc44016fce7e7107 annotatedProperty IAO_0000115 @default.
- B0c39f5b2747b28d2bc44016fce7e7107 annotatedSource NCIT_C131000 @default.
- B0c39f5b2747b28d2bc44016fce7e7107 annotatedTarget "An autosomal recessive condition caused by mutation(s) in the INSR gene, encoding the insulin receptor, and characterized by insulin resistance, intrauterine growth restriction (IUGR) and/or failure to thrive, muscle atrophy, hypertrichosis, and distinctive facial features; the condition is typically diagnosed early in life, with death usually occurring before the third decade of life. The symptoms and course of this syndrome are moderately severe as compared to the other two syndromes on the spectrum: Insulin Resistant Diabetes Mellitus with Acanthosis Nigricans and Hyperandrogenism, and Donohue Syndrome." @default.