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- B75304d63d43a7ee984c92485a8c8c8f2 NCIT_P378 "NCI" @default.
- B75304d63d43a7ee984c92485a8c8c8f2 type Axiom @default.
- B75304d63d43a7ee984c92485a8c8c8f2 annotatedProperty IAO_0000115 @default.
- B75304d63d43a7ee984c92485a8c8c8f2 annotatedSource NCIT_C133727 @default.
- B75304d63d43a7ee984c92485a8c8c8f2 annotatedTarget "An autosomal recessive condition caused by mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. It is characterized by congenital hypoparathyroidism, mental retardation, seizures and developmental delay." @default.