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- B705c3f94c5a91f4c0130cdca117bf9b9 hasDbXref "Orphanet:85184" @default.
- B705c3f94c5a91f4c0130cdca117bf9b9 type Axiom @default.
- B705c3f94c5a91f4c0130cdca117bf9b9 annotatedProperty IAO_0000115 @default.
- B705c3f94c5a91f4c0130cdca117bf9b9 annotatedSource MONDO_0010014 @default.
- B705c3f94c5a91f4c0130cdca117bf9b9 annotatedTarget "Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted." @default.