Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B5a9d5c53d8c3f54d3d44ee5f3312aa44> ?p ?o ?g. }
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- B5a9d5c53d8c3f54d3d44ee5f3312aa44 hasDbXref "Orphanet:530" @default.
- B5a9d5c53d8c3f54d3d44ee5f3312aa44 type Axiom @default.
- B5a9d5c53d8c3f54d3d44ee5f3312aa44 annotatedProperty IAO_0000115 @default.
- B5a9d5c53d8c3f54d3d44ee5f3312aa44 annotatedSource MONDO_0009530 @default.
- B5a9d5c53d8c3f54d3d44ee5f3312aa44 annotatedTarget "Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications." @default.