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- B599e6ef2e5bad3ba4e92c80c4aff71f0 NCIT_P378 "NICHD" @default.
- B599e6ef2e5bad3ba4e92c80c4aff71f0 type Axiom @default.
- B599e6ef2e5bad3ba4e92c80c4aff71f0 annotatedProperty NCIT_P325 @default.
- B599e6ef2e5bad3ba4e92c80c4aff71f0 annotatedSource NCIT_C84549 @default.
- B599e6ef2e5bad3ba4e92c80c4aff71f0 annotatedTarget "An autosomal recessive syndrome caused by mutation(s) in the ALMS1 gene encoding Alstrom syndrome protein 1. The condition is characterized by hyperphagia, obesity, insulin resistance, type 2 diabetes mellitus, hypogonadism, blindness, hearing loss, dilated cardiomyopathy and congestive heart failure, and hepatic and renal failure. Additionally, polycystic ovarian syndrome may occur in female individuals." @default.