Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B71493a8d6c52c5d6db83ea314254bf7d> ?p ?o ?g. }
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- B71493a8d6c52c5d6db83ea314254bf7d hasDbXref "Orphanet:22" @default.
- B71493a8d6c52c5d6db83ea314254bf7d type Axiom @default.
- B71493a8d6c52c5d6db83ea314254bf7d annotatedProperty IAO_0000115 @default.
- B71493a8d6c52c5d6db83ea314254bf7d annotatedSource MONDO_0010083 @default.
- B71493a8d6c52c5d6db83ea314254bf7d annotatedTarget "Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation." @default.