Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B0f054dcc1d842059644a31752b9c55a0> ?p ?o ?g. }
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- B0f054dcc1d842059644a31752b9c55a0 hasDbXref "OMIM:619173" @default.
- B0f054dcc1d842059644a31752b9c55a0 hasDbXref "OMIM:genemap2" @default.
- B0f054dcc1d842059644a31752b9c55a0 type Axiom @default.
- B0f054dcc1d842059644a31752b9c55a0 annotatedProperty hasExactSynonym @default.
- B0f054dcc1d842059644a31752b9c55a0 annotatedSource MONDO_0030947 @default.
- B0f054dcc1d842059644a31752b9c55a0 annotatedTarget "neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities" @default.