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- B3419c17b6ee855d65c0fcd0f35e4f852 hasDbXref "Orphanet:93358" @default.
- B3419c17b6ee855d65c0fcd0f35e4f852 hasDbXref "https://orcid.org/0000-0001-5208-3432" @default.
- B3419c17b6ee855d65c0fcd0f35e4f852 type Axiom @default.
- B3419c17b6ee855d65c0fcd0f35e4f852 annotatedProperty IAO_0000115 @default.
- B3419c17b6ee855d65c0fcd0f35e4f852 annotatedSource MONDO_0010077 @default.
- B3419c17b6ee855d65c0fcd0f35e4f852 annotatedTarget "A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal." @default.