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- B798a356f274b4770dbe3c3365c9e7a0c NCIT_P378 "NICHD" @default.
- B798a356f274b4770dbe3c3365c9e7a0c type Axiom @default.
- B798a356f274b4770dbe3c3365c9e7a0c annotatedProperty NCIT_P325 @default.
- B798a356f274b4770dbe3c3365c9e7a0c annotatedSource NCIT_C131812 @default.
- B798a356f274b4770dbe3c3365c9e7a0c 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.