Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B14f773169b1f156c211dd8be5e363b2c> ?p ?o ?g. }
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- B14f773169b1f156c211dd8be5e363b2c hasDbXref "Orphanet:333" @default.
- B14f773169b1f156c211dd8be5e363b2c type Axiom @default.
- B14f773169b1f156c211dd8be5e363b2c annotatedProperty IAO_0000115 @default.
- B14f773169b1f156c211dd8be5e363b2c annotatedSource MONDO_0009218 @default.
- B14f773169b1f156c211dd8be5e363b2c annotatedTarget "A rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement." @default.