sub:provenance { sub:assertiondcterms:description "[Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the 'molar tooth sign' on magnetic resonance imaging, (2) the 'molar tooth sign' could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ; wi:evidencedgn-void:source_evidence_literature ; sio:SIO_000772miriam-pubmed:10511339 ; prov:wasDerivedFromdgn-void:BEFREE ; prov:wasGeneratedByeco:ECO_0000203 . dgn-void:BEFREEpav:importedOn "2017-02-19"^^xsd:date . dgn-void:source_evidence_literatureaeco:ECO_0000212 ; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en ; rdfs:label "DisGeNET evidence - LITERATURE"@en . }