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- B9dfccfa8ec21aa1a38b6ce78004d8b8a NCIT_P378 "NICHD" @default.
- B9dfccfa8ec21aa1a38b6ce78004d8b8a type Axiom @default.
- B9dfccfa8ec21aa1a38b6ce78004d8b8a annotatedProperty NCIT_P325 @default.
- B9dfccfa8ec21aa1a38b6ce78004d8b8a annotatedSource NCIT_C131812 @default.
- B9dfccfa8ec21aa1a38b6ce78004d8b8a 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.