Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B31db6ad8f0b281a007ec22a0932e6921> ?p ?o ?g. }
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- B31db6ad8f0b281a007ec22a0932e6921 hasDbXref "Orphanet:2798" @default.
- B31db6ad8f0b281a007ec22a0932e6921 type Axiom @default.
- B31db6ad8f0b281a007ec22a0932e6921 annotatedProperty IAO_0000115 @default.
- B31db6ad8f0b281a007ec22a0932e6921 annotatedSource MONDO_0010840 @default.
- B31db6ad8f0b281a007ec22a0932e6921 annotatedTarget "A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated." @default.