Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B747ec91986922e6dc8c9e019164f39c3> ?p ?o ?g. }
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- B747ec91986922e6dc8c9e019164f39c3 hasDbXref "Orphanet:2379" @default.
- B747ec91986922e6dc8c9e019164f39c3 type Axiom @default.
- B747ec91986922e6dc8c9e019164f39c3 annotatedProperty IAO_0000115 @default.
- B747ec91986922e6dc8c9e019164f39c3 annotatedSource MONDO_0010709 @default.
- B747ec91986922e6dc8c9e019164f39c3 annotatedTarget "A basal ganglia disorder characterized by Parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter." @default.