Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bda94b78400bef9860cfd79044cd79bfe> ?p ?o ?g. }
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- Bda94b78400bef9860cfd79044cd79bfe hasDbXref "Orphanet:85294" @default.
- Bda94b78400bef9860cfd79044cd79bfe type Axiom @default.
- Bda94b78400bef9860cfd79044cd79bfe annotatedProperty IAO_0000115 @default.
- Bda94b78400bef9860cfd79044cd79bfe annotatedSource MONDO_0010339 @default.
- Bda94b78400bef9860cfd79044cd79bfe annotatedTarget "An epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behavior. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12)." @default.