Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B5c75f0755213e94ef5d32b8cd8efcd21> ?p ?o ?g. }
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- B5c75f0755213e94ef5d32b8cd8efcd21 hasDbXref "MONDO:cjm" @default.
- B5c75f0755213e94ef5d32b8cd8efcd21 hasDbXref "Orphanet:2182" @default.
- B5c75f0755213e94ef5d32b8cd8efcd21 hasDbXref "https://rarediseases.info.nih.gov/diseases/434/hydrocephalus-due-to-congenital-stenosis-of-aqueduct-of-sylvius" @default.
- B5c75f0755213e94ef5d32b8cd8efcd21 hasDbXref "https://www.ncbi.nlm.nih.gov/books/NBK1484/" @default.
- B5c75f0755213e94ef5d32b8cd8efcd21 type Axiom @default.
- B5c75f0755213e94ef5d32b8cd8efcd21 annotatedProperty IAO_0000115 @default.
- B5c75f0755213e94ef5d32b8cd8efcd21 annotatedSource MONDO_0010611 @default.
- B5c75f0755213e94ef5d32b8cd8efcd21 annotatedTarget "A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis." @default.