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- Q814547 subject Q6500135.
- Q814547 subject Q6584894.
- Q814547 subject Q6853484.
- Q814547 subject Q6902466.
- Q814547 subject Q8482266.
- Q814547 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.".
- Q814547 icd10 "G11.18".
- Q814547 meshId "C537669".
- Q814547 omim "210000".
- Q814547 wikiPageExternalLink behr-syndrome.
- Q814547 wikiPageExternalLink Optic_Atrophy.
- Q814547 wikiPageExternalLink 210000.
- Q814547 wikiPageExternalLink OC_Exp.php?lng=EN&Expert=1239.
- Q814547 wikiPageWikiLink Q1262161.
- Q814547 wikiPageWikiLink Q13048280.
- Q814547 wikiPageWikiLink Q186380.
- Q814547 wikiPageWikiLink Q6500135.
- Q814547 wikiPageWikiLink Q6531938.
- Q814547 wikiPageWikiLink Q6584894.
- Q814547 wikiPageWikiLink Q6642106.
- Q814547 wikiPageWikiLink Q6853484.
- Q814547 wikiPageWikiLink Q6902466.
- Q814547 wikiPageWikiLink Q8482266.
- Q814547 wikiPageWikiLink Q935710.
- Q814547 icd "G11.18".
- Q814547 meshid "537669.0".
- Q814547 name "Behr syndrome".
- Q814547 omim "210000".
- Q814547 type Disease.
- Q814547 type Thing.
- Q814547 type Q12136.
- Q814547 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.".
- Q814547 label "Behr syndrome".
- Q814547 name "Behr syndrome".