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- B94240f822c80748619d435334e3802cb hasDbXref "DOID:0070131" @default.
- B94240f822c80748619d435334e3802cb type Axiom @default.
- B94240f822c80748619d435334e3802cb annotatedProperty IAO_0000115 @default.
- B94240f822c80748619d435334e3802cb annotatedSource MONDO_0014706 @default.
- B94240f822c80748619d435334e3802cb annotatedTarget "An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24." @default.