Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bbe2716e67107a6752ffe702df13034f4> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- Bbe2716e67107a6752ffe702df13034f4 hasDbXref "Orphanet:25" @default.
- Bbe2716e67107a6752ffe702df13034f4 type Axiom @default.
- Bbe2716e67107a6752ffe702df13034f4 annotatedProperty IAO_0000115 @default.
- Bbe2716e67107a6752ffe702df13034f4 annotatedSource MONDO_0009281 @default.
- Bbe2716e67107a6752ffe702df13034f4 annotatedTarget "Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder." @default.