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- B2e72e4e1896a9c25efa7e86c2936de1b hasDbXref "Orphanet:261183" @default.
- B2e72e4e1896a9c25efa7e86c2936de1b type Axiom @default.
- B2e72e4e1896a9c25efa7e86c2936de1b annotatedProperty IAO_0000115 @default.
- B2e72e4e1896a9c25efa7e86c2936de1b annotatedSource MONDO_0014294 @default.
- B2e72e4e1896a9c25efa7e86c2936de1b annotatedTarget "15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia)." @default.