Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B010e24011d7b03b0c34f09986b0bbfe6> ?p ?o ?g. }
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- B010e24011d7b03b0c34f09986b0bbfe6 hasDbXref "Orphanet:448242" @default.
- B010e24011d7b03b0c34f09986b0bbfe6 type Axiom @default.
- B010e24011d7b03b0c34f09986b0bbfe6 annotatedProperty IAO_0000115 @default.
- B010e24011d7b03b0c34f09986b0bbfe6 annotatedSource MONDO_0018662 @default.
- B010e24011d7b03b0c34f09986b0bbfe6 annotatedTarget "Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur." @default.