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- B7269b00e7c33077c76f6c9f3d5b954d3 NCIT_P378 "NCI" @default.
- B7269b00e7c33077c76f6c9f3d5b954d3 type Axiom @default.
- B7269b00e7c33077c76f6c9f3d5b954d3 annotatedProperty IAO_0000115 @default.
- B7269b00e7c33077c76f6c9f3d5b954d3 annotatedSource NCIT_C84611 @default.
- B7269b00e7c33077c76f6c9f3d5b954d3 annotatedTarget "A disorder that belongs in the group of leukodystrophies. It is caused by mutations in the ASPA gene which is responsible for the production of the enzyme aspartoacylase. It is characterized by spongy degeneration of the white matter of the brain. Signs and symptoms appear in infancy and include mental retardation, loss of motor skills, abnormal muscle tone, feeding difficulties and a very large head." @default.