Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B7693bf7e2102a29b9fbfbaa34c05e162> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- B7693bf7e2102a29b9fbfbaa34c05e162 hasDbXref "Orphanet:1570" @default.
- B7693bf7e2102a29b9fbfbaa34c05e162 type Axiom @default.
- B7693bf7e2102a29b9fbfbaa34c05e162 annotatedProperty IAO_0000115 @default.
- B7693bf7e2102a29b9fbfbaa34c05e162 annotatedSource MONDO_0015516 @default.
- B7693bf7e2102a29b9fbfbaa34c05e162 annotatedTarget "Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails." @default.