Matches in DBpedia 2016-04 for { <http://dbpedia.org/resource/Behr_syndrome> ?p ?o }
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- Behr_syndrome abstract "Behr syndrome is characterized by the association of early-onset optic atrophy with spinocerebellar degeneration resulting in ataxia, pyramidal signs, peripheral neuropathy and developmental delay.Although it is an autosomal recessive disorder, heterozygotes may still manifest much attenuated symptoms. Autosomal dominant inheritance also being reported in a family. Recently a variant of OPA1 mutation with phenotypic presentation like Behr syndrome is also described. Some reported cases have been found to carry mutations in the OPA1, OPA3 or C12ORF65 genes which are known causes of pure optic atrophy or optic atrophy complicated by movement disorder.".
- Behr_syndrome icd10 "G11.18".
- Behr_syndrome meshId "C537669".
- Behr_syndrome omim "210000".
- Behr_syndrome wikiPageExternalLink behr-syndrome.
- Behr_syndrome wikiPageExternalLink Optic_Atrophy.
- Behr_syndrome wikiPageExternalLink 210000.
- Behr_syndrome wikiPageExternalLink OC_Exp.php?lng=EN&Expert=1239.
- Behr_syndrome wikiPageID "3153153".
- Behr_syndrome wikiPageLength "8802".
- Behr_syndrome wikiPageOutDegree "12".
- Behr_syndrome wikiPageRevisionID "701391194".
- Behr_syndrome wikiPageWikiLink Autosome.
- Behr_syndrome wikiPageWikiLink Category:Autosomal_recessive_disorders.
- Behr_syndrome wikiPageWikiLink Category:Genetic_disorders_with_OMIM_but_no_gene.
- Behr_syndrome wikiPageWikiLink Category:Neurological_disorders.
- Behr_syndrome wikiPageWikiLink Category:Rare_diseases.
- Behr_syndrome wikiPageWikiLink Category:Syndromes.
- Behr_syndrome wikiPageWikiLink Dominance_(genetics).
- Behr_syndrome wikiPageWikiLink File:Autorecessive.svg.
- Behr_syndrome wikiPageWikiLink Lebers_hereditary_optic_neuropathy.
- Behr_syndrome wikiPageWikiLink List_of_systemic_diseases_with_ocular_manifestations.
- Behr_syndrome wikiPageWikiLink Mitochondrial_disease.
- Behr_syndrome wikiPageWikiLink Zygosity.
- Behr_syndrome wikiPageWikiLinkText "Behr syndrome".
- Behr_syndrome diseasesdb "32611".
- Behr_syndrome icd "G11.18".
- Behr_syndrome meshid "537669.0".
- Behr_syndrome name "Behr syndrome".
- Behr_syndrome omim "210000".
- Behr_syndrome wikiPageUsesTemplate Template:Genetic-disorder-stub.
- Behr_syndrome wikiPageUsesTemplate Template:Infobox_disease.
- Behr_syndrome wikiPageUsesTemplate Template:RareDiseases.
- Behr_syndrome wikiPageUsesTemplate Template:Refimprove.
- Behr_syndrome wikiPageUsesTemplate Template:Reflist.
- Behr_syndrome subject Category:Autosomal_recessive_disorders.
- Behr_syndrome subject Category:Genetic_disorders_with_OMIM_but_no_gene.
- Behr_syndrome subject Category:Neurological_disorders.
- Behr_syndrome subject Category:Rare_diseases.
- Behr_syndrome subject Category:Syndromes.
- Behr_syndrome hypernym Disorder.
- Behr_syndrome type Disease.
- Behr_syndrome type Disorder.
- Behr_syndrome type Syndrome.
- Behr_syndrome type Thing.
- Behr_syndrome type Q12136.
- Behr_syndrome comment "Behr syndrome is characterized by the association of early-onset optic atrophy with spinocerebellar degeneration resulting in ataxia, pyramidal signs, peripheral neuropathy and developmental delay.Although it is an autosomal recessive disorder, heterozygotes may still manifest much attenuated symptoms. Autosomal dominant inheritance also being reported in a family. Recently a variant of OPA1 mutation with phenotypic presentation like Behr syndrome is also described.".
- Behr_syndrome label "Behr syndrome".
- Behr_syndrome sameAs Q814547.
- Behr_syndrome sameAs متلازمة_بهر.
- Behr_syndrome sameAs Behr-Syndrom_I.
- Behr_syndrome sameAs Behrin_oireyhtymä.
- Behr_syndrome sameAs Zespół_Behra.
- Behr_syndrome sameAs m.08vwb6.
- Behr_syndrome sameAs Q814547.
- Behr_syndrome wasDerivedFrom Behr_syndrome?oldid=701391194.
- Behr_syndrome isPrimaryTopicOf Behr_syndrome.
- Behr_syndrome name "Behr syndrome".