Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bf68c9da358446411d5f034c6da0a542a> ?p ?o ?g. }
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- Bf68c9da358446411d5f034c6da0a542a hasDbXref "Orphanet:90023" @default.
- Bf68c9da358446411d5f034c6da0a542a type Axiom @default.
- Bf68c9da358446411d5f034c6da0a542a annotatedProperty IAO_0000115 @default.
- Bf68c9da358446411d5f034c6da0a542a annotatedSource MONDO_0012559 @default.
- Bf68c9da358446411d5f034c6da0a542a annotatedTarget "Primary immunodeficiency syndrome due to p14 deficiency is characterized by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections." @default.