Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bcccb323d1557aac927d46f9b565414b0> ?p ?o ?g. }
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- Bcccb323d1557aac927d46f9b565414b0 hasDbXref "Orphanet:118" @default.
- Bcccb323d1557aac927d46f9b565414b0 type Axiom @default.
- Bcccb323d1557aac927d46f9b565414b0 annotatedProperty IAO_0000115 @default.
- Bcccb323d1557aac927d46f9b565414b0 annotatedSource MONDO_0009562 @default.
- Bcccb323d1557aac927d46f9b565414b0 annotatedTarget "Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity." @default.