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- B3bd4e8f7c882f9f941c92f41aa99286c NCIT_P378 "NCI" @default.
- B3bd4e8f7c882f9f941c92f41aa99286c type Axiom @default.
- B3bd4e8f7c882f9f941c92f41aa99286c annotatedProperty IAO_0000115 @default.
- B3bd4e8f7c882f9f941c92f41aa99286c annotatedSource NCIT_C84549 @default.
- B3bd4e8f7c882f9f941c92f41aa99286c annotatedTarget "A rare autosomal recessive syndrome caused by mutations in the gene ALMS1. Signs and symptoms include blindness, obesity, hearing loss, endocrine abnormalities, cardiomyopathy and congestive heart failure, hepatic and renal failure." @default.