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- B547f0db1243a6edc85fb49b70e973fa5 NCIT_P378 "NCI" @default.
- B547f0db1243a6edc85fb49b70e973fa5 type Axiom @default.
- B547f0db1243a6edc85fb49b70e973fa5 annotatedProperty IAO_0000115 @default.
- B547f0db1243a6edc85fb49b70e973fa5 annotatedSource NCIT_C131429 @default.
- B547f0db1243a6edc85fb49b70e973fa5 annotatedTarget "An autosomal dominant or recessive form of craniotubular hyperostosis due to mutation(s) in the SOST gene, encoding sclerostin. This condition is characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones, which is so severe that the resulting facial distortion is referred to as 'leontiasis ossea'; the bone deposition results in progressive stenosis of craniofacial foramina and can lead to severe neurologic impairment in childhood." @default.