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WebApr 13, 2024 · Mondo is more than just a source of robust and reproducible mappings between disease terminologies; Mondo also includes n-of-1, rare diseases, environmentally-influenced diseases, and complex genetic diseases that may not be documented in other sources and can be partitioned out for different uses. WebObjective The study is aimed at widening the clinical and genetic spectrum and at assessing genotype-phenotype associations in QARS encephalopathy. Methods Through diagnostic gene panel screening in an epilepsy cohort, and recruiting through GeneMatcher and our international network, we collected 10 patients with biallelic QARS variants. In addition, … WebCathryn Poulton, Dylan Gration, Kevin Murray, Gareth Baynam, Anne Halbert. Pediatric Dermatology 2024 November. Autosomal recessive congenital ichthyosis is a genetically … how to summon herobrine in bedrock