Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Be387ff9ded0571857eafc3c2ba78fd0c> ?p ?o ?g. }
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- Be387ff9ded0571857eafc3c2ba78fd0c hasDbXref "Orphanet:702" @default.
- Be387ff9ded0571857eafc3c2ba78fd0c type Axiom @default.
- Be387ff9ded0571857eafc3c2ba78fd0c annotatedProperty IAO_0000115 @default.
- Be387ff9ded0571857eafc3c2ba78fd0c annotatedSource MONDO_0010714 @default.
- Be387ff9ded0571857eafc3c2ba78fd0c annotatedTarget "An X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD." @default.