Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bd5cbbbfc37f99e56dfc3247022e15996> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- Bd5cbbbfc37f99e56dfc3247022e15996 hasDbXref "Orphanet:448242" @default.
- Bd5cbbbfc37f99e56dfc3247022e15996 type Axiom @default.
- Bd5cbbbfc37f99e56dfc3247022e15996 annotatedProperty IAO_0000115 @default.
- Bd5cbbbfc37f99e56dfc3247022e15996 annotatedSource MONDO_0018662 @default.
- Bd5cbbbfc37f99e56dfc3247022e15996 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.