Matches in DBpedia 2016-04 for { <http://dbpedia.org/resource/Adermatoglyphia> ?p ?o }
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- Adermatoglyphia abstract "Adermatoglyphia is an extremely rare genetic disorder which causes a person to have no fingerprints. There are only four known extended families worldwide which are affected by this condition.Recently, the description of a case of a person from Switzerland lacking fingerprints as an isolated finding was published. The phenotype was mapped to chromosome 4q22. In the splice-site of a 3' exon of the gene for SMARCAD1-helicase, a point mutation was detected. It results in a shortened form of the skin-specific protein. The heterozygous mode of mutation suggests an autosomal dominant mode of inheritance.Other conditions can cause a lack of fingerprints, but unlike them, adermatoglyphia has no other side effects. Mutations in helicases are involved in other rare genetic diseases, for instance Werner syndrome.".
- Adermatoglyphia omim "136000".
- Adermatoglyphia wikiPageID "32684937".
- Adermatoglyphia wikiPageLength "2989".
- Adermatoglyphia wikiPageOutDegree "18".
- Adermatoglyphia wikiPageRevisionID "703064419".
- Adermatoglyphia wikiPageWikiLink BBC.
- Adermatoglyphia wikiPageWikiLink Category:Autosomal_dominant_disorders.
- Adermatoglyphia wikiPageWikiLink Category:Cutaneous_congenital_anomalies.
- Adermatoglyphia wikiPageWikiLink Category:Rare_diseases.
- Adermatoglyphia wikiPageWikiLink Chromosome.
- Adermatoglyphia wikiPageWikiLink Death_in_Paradise_(TV_series).
- Adermatoglyphia wikiPageWikiLink Dominance_(genetics).
- Adermatoglyphia wikiPageWikiLink Fingerprint.
- Adermatoglyphia wikiPageWikiLink Genetic_disorder.
- Adermatoglyphia wikiPageWikiLink Helicase.
- Adermatoglyphia wikiPageWikiLink Mutation.
- Adermatoglyphia wikiPageWikiLink Phenotype.
- Adermatoglyphia wikiPageWikiLink Point_mutation.
- Adermatoglyphia wikiPageWikiLink Protein.
- Adermatoglyphia wikiPageWikiLink SMARCAD1.
- Adermatoglyphia wikiPageWikiLink Switzerland.
- Adermatoglyphia wikiPageWikiLink Werner_syndrome.
- Adermatoglyphia wikiPageWikiLink Zygosity.
- Adermatoglyphia wikiPageWikiLinkText "Adermatoglyphia".
- Adermatoglyphia wikiPageWikiLinkText "adermatoglyphia".
- Adermatoglyphia wikiPageWikiLinkText "no fingerprints".
- Adermatoglyphia name "Adermatoglyphia".
- Adermatoglyphia omim "136000".
- Adermatoglyphia wikiPageUsesTemplate Template:Cutaneous-condition-stub.
- Adermatoglyphia wikiPageUsesTemplate Template:DNA_replication_and_repair-deficiency_disorder.
- Adermatoglyphia wikiPageUsesTemplate Template:Infobox_disease.
- Adermatoglyphia wikiPageUsesTemplate Template:Reflist.
- Adermatoglyphia wikiPageUsesTemplate Template:Research_help.
- Adermatoglyphia subject Category:Autosomal_dominant_disorders.
- Adermatoglyphia subject Category:Cutaneous_congenital_anomalies.
- Adermatoglyphia subject Category:Rare_diseases.
- Adermatoglyphia type Disease.
- Adermatoglyphia type Disorder.
- Adermatoglyphia type Thing.
- Adermatoglyphia type Q12136.
- Adermatoglyphia comment "Adermatoglyphia is an extremely rare genetic disorder which causes a person to have no fingerprints. There are only four known extended families worldwide which are affected by this condition.Recently, the description of a case of a person from Switzerland lacking fingerprints as an isolated finding was published. The phenotype was mapped to chromosome 4q22. In the splice-site of a 3' exon of the gene for SMARCAD1-helicase, a point mutation was detected.".
- Adermatoglyphia label "Adermatoglyphia".
- Adermatoglyphia sameAs Q356410.
- Adermatoglyphia sameAs Adermatoglyphie.
- Adermatoglyphia sameAs Αδερματογλυφία.
- Adermatoglyphia sameAs Adermatoglifia.
- Adermatoglyphia sameAs Adermatoglifia.
- Adermatoglyphia sameAs Adermatoglifia.
- Adermatoglyphia sameAs m.0h3sypv.
- Adermatoglyphia sameAs Q356410.
- Adermatoglyphia wasDerivedFrom Adermatoglyphia?oldid=703064419.
- Adermatoglyphia isPrimaryTopicOf Adermatoglyphia.
- Adermatoglyphia name "Adermatoglyphia".