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- Ba9d86f07dd4e9083727a7023f360e33b NCIT_P378 "NCI" @default.
- Ba9d86f07dd4e9083727a7023f360e33b type Axiom @default.
- Ba9d86f07dd4e9083727a7023f360e33b annotatedProperty IAO_0000115 @default.
- Ba9d86f07dd4e9083727a7023f360e33b annotatedSource NCIT_C61250 @default.
- Ba9d86f07dd4e9083727a7023f360e33b annotatedTarget "A group of autosomal recessive or X-linked inherited metabolic disorders caused by defects in the function of the lysosomes. Signs and symptoms include hepatomegaly, splenomegaly, nervous system manifestations, skeletal abnormalities, and mental deterioration. Representative examples include Gaucher disease, Niemann-Pick disease, Wolman disease, and Fabry disease." @default.