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- B09ad4cdbb20568c40d97e56e41971802 NCIT_P378 "NCI" @default.
- B09ad4cdbb20568c40d97e56e41971802 type Axiom @default.
- B09ad4cdbb20568c40d97e56e41971802 annotatedProperty IAO_0000115 @default.
- B09ad4cdbb20568c40d97e56e41971802 annotatedSource NCIT_C131812 @default.
- B09ad4cdbb20568c40d97e56e41971802 annotatedTarget "An autosomal recessive form of craniotubular hyperostosis due to a 52-kb deletion in the SOST gene, encoding sclerostin. Clinical features include normal stature, enlarged jaw and facial bones, hearing loss, and facial palsy due to cranial nerve deficits. The absence of syndactyly distinguishes this condition from sclerosteosis." @default.