Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bcdff0684e98ba5ca057d66e66ca6e816> ?p ?o ?g. }
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- Bcdff0684e98ba5ca057d66e66ca6e816 hasDbXref "Orphanet:580" @default.
- Bcdff0684e98ba5ca057d66e66ca6e816 type Axiom @default.
- Bcdff0684e98ba5ca057d66e66ca6e816 annotatedProperty IAO_0000115 @default.
- Bcdff0684e98ba5ca057d66e66ca6e816 annotatedSource MONDO_0010674 @default.
- Bcdff0684e98ba5ca057d66e66ca6e816 annotatedTarget "A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." @default.