Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bb443a093ff4c54394ab651d87854518c> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- Bb443a093ff4c54394ab651d87854518c hasDbXref "Orphanet:1508" @default.
- Bb443a093ff4c54394ab651d87854518c type Axiom @default.
- Bb443a093ff4c54394ab651d87854518c annotatedProperty IAO_0000115 @default.
- Bb443a093ff4c54394ab651d87854518c annotatedSource MONDO_0007392 @default.
- Bb443a093ff4c54394ab651d87854518c annotatedTarget "Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981." @default.