Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bf97b572148fc80f37b22f330704cfae1> ?p ?o ?g. }
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- Bf97b572148fc80f37b22f330704cfae1 hasDbXref "Orphanet:1597" @default.
- Bf97b572148fc80f37b22f330704cfae1 type Axiom @default.
- Bf97b572148fc80f37b22f330704cfae1 annotatedProperty IAO_0000115 @default.
- Bf97b572148fc80f37b22f330704cfae1 annotatedSource MONDO_0015562 @default.
- Bf97b572148fc80f37b22f330704cfae1 annotatedTarget "Distal monosomy 17q is a very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2)." @default.