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- B731ac979a06faddbb4225b79a0a43cba NCIT_P378 "NCI" @default.
- B731ac979a06faddbb4225b79a0a43cba type Axiom @default.
- B731ac979a06faddbb4225b79a0a43cba annotatedProperty IAO_0000115 @default.
- B731ac979a06faddbb4225b79a0a43cba annotatedSource NCIT_C118847 @default.
- B731ac979a06faddbb4225b79a0a43cba annotatedTarget "A rare, autosomal recessive inherited disorder caused by mutations in the SMN1 gene. It is characterized by progressive degeneration and loss of the anterior horn cells in the spinal cord and brain stem. It is manifested with hypotonia and muscle weakness, usually in late childhood or adolescence. Affected individuals can stand and walk but walking and climbing stairs becomes progressively difficult." @default.