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- Bd473b8b34a4eaec41312c4c8f6e2d957 NCIT_P378 "NCI" @default.
- Bd473b8b34a4eaec41312c4c8f6e2d957 type Axiom @default.
- Bd473b8b34a4eaec41312c4c8f6e2d957 annotatedProperty IAO_0000115 @default.
- Bd473b8b34a4eaec41312c4c8f6e2d957 annotatedSource NCIT_C175209 @default.
- Bd473b8b34a4eaec41312c4c8f6e2d957 annotatedTarget "An autosomal dominant condition caused by mutation(s) in the TRPV4 gene, encoding transient receptor potential cation channel subfamily V member 4. It is characterized by a variable phenotype, which may include short limbs, kyphoscoliosis, and other skeletal abnormalities." @default.