Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B4b11189837ee21cb9a76520f6c714c01> ?p ?o ?g. }
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- B4b11189837ee21cb9a76520f6c714c01 hasDbXref "Orphanet:2379" @default.
- B4b11189837ee21cb9a76520f6c714c01 type Axiom @default.
- B4b11189837ee21cb9a76520f6c714c01 annotatedProperty IAO_0000115 @default.
- B4b11189837ee21cb9a76520f6c714c01 annotatedSource MONDO_0010709 @default.
- B4b11189837ee21cb9a76520f6c714c01 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.