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- B127766bacc6c3884c9b88285bc418b12 NCIT_P378 "NICHD" @default.
- B127766bacc6c3884c9b88285bc418b12 type Axiom @default.
- B127766bacc6c3884c9b88285bc418b12 annotatedProperty NCIT_P325 @default.
- B127766bacc6c3884c9b88285bc418b12 annotatedSource NCIT_C118423 @default.
- B127766bacc6c3884c9b88285bc418b12 annotatedTarget "An autosomal dominant condition caused by mutation(s) in the COL1A1 gene encoding the collagen alpha-1(I) chain. This disease is an acute inflammatory condition of infancy that causes soft tissue swelling (mostly of chin/cheeks), bone thickening/widening (particularly of the mandible/clavicles/long bones), pain, and irritability. This disease generally resolves by the 3rd year of life, although some bony deformity may persist." @default.