About: Liebenberg syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : yago:WikicatSyndromes, within Data Space : dbpedia.org associated with source document(s)
QRcode icon
http://dbpedia.org/describe/?url=http%3A%2F%2Fdbpedia.org%2Fresource%2FLiebenberg_syndrome

Liebenberg syndrome is a rare autosomal genetic disease that involves a deletion mutation upstream of the PITX1 gene, which is one that's responsible for the body's organization, specifically in forming lower limbs. In animal studies, when this deletion was introduced to developing birds, their wing buds were noted to take on limb-like structures. The condition was first described by Dr. F. Liebenberg in 1973 while he followed multiple generations of a South African family, but it has since been noticed in other family lineages across the world.

AttributesValues
rdf:type
rdfs:label
  • Liebenberg-Syndrom (de)
  • Sindrome di Liebenberg (it)
  • Liebenberg syndrome (en)
rdfs:comment
  • Das Liebenberg-Syndrom ist eine angeborene Fehlbildung der oberen Extremität mit dysplastischem Ellbogengelenk, Veränderungen der Handwurzelknochen und Brachytelephalangie (verkürzten Fingerendgliedern). Die Bezeichnung bezieht sich auf den Autor der Erstbeschreibung von 1973, den südafrikanischen Orthopäden F. Liebenberg. (de)
  • Liebenberg syndrome is a rare autosomal genetic disease that involves a deletion mutation upstream of the PITX1 gene, which is one that's responsible for the body's organization, specifically in forming lower limbs. In animal studies, when this deletion was introduced to developing birds, their wing buds were noted to take on limb-like structures. The condition was first described by Dr. F. Liebenberg in 1973 while he followed multiple generations of a South African family, but it has since been noticed in other family lineages across the world. (en)
  • La sindrome di Liebenberg (chiamata anche Brachidattilia - displasia del gomito e del polso) è una rara malattia genetica autosomica data dalla mutazione del , che è responsabile dell'organizzazione del corpo, in particolare della formazione degli arti inferiori. Disattivando il gene sugli uccelli si è notato che i bozzetti delle ali assumevano strutture simili ad un arto. La condizione è stata descritta per la prima volta dal Dr. F. Liebenberg nel 1973 mentre seguiva diverse generazioni di una famiglia sudafricana, ma da allora è stata notata in altri lignaggi familiari in tutto il mondo. (it)
foaf:name
  • Liebenberg syndrome (en)
name
  • Liebenberg syndrome (en)
foaf:depiction
  • http://commons.wikimedia.org/wiki/Special:FilePath/Autosomal_dominant.png
dcterms:subject
Wikipage page ID
Wikipage revision ID
Link from a Wikipage to another Wikipage
sameAs
dbp:wikiPageUsesTemplate
thumbnail
MeshID
OMIM
synonyms
  • Brachydactyly-elbow wrist dysplasia syndrome (en)
has abstract
  • Das Liebenberg-Syndrom ist eine angeborene Fehlbildung der oberen Extremität mit dysplastischem Ellbogengelenk, Veränderungen der Handwurzelknochen und Brachytelephalangie (verkürzten Fingerendgliedern). Die Bezeichnung bezieht sich auf den Autor der Erstbeschreibung von 1973, den südafrikanischen Orthopäden F. Liebenberg. (de)
  • Liebenberg syndrome is a rare autosomal genetic disease that involves a deletion mutation upstream of the PITX1 gene, which is one that's responsible for the body's organization, specifically in forming lower limbs. In animal studies, when this deletion was introduced to developing birds, their wing buds were noted to take on limb-like structures. The condition was first described by Dr. F. Liebenberg in 1973 while he followed multiple generations of a South African family, but it has since been noticed in other family lineages across the world. (en)
  • La sindrome di Liebenberg (chiamata anche Brachidattilia - displasia del gomito e del polso) è una rara malattia genetica autosomica data dalla mutazione del , che è responsabile dell'organizzazione del corpo, in particolare della formazione degli arti inferiori. Disattivando il gene sugli uccelli si è notato che i bozzetti delle ali assumevano strutture simili ad un arto. La condizione è stata descritta per la prima volta dal Dr. F. Liebenberg nel 1973 mentre seguiva diverse generazioni di una famiglia sudafricana, ma da allora è stata notata in altri lignaggi familiari in tutto il mondo. (it)
gold:hypernym
MeSH ID
  • C566090
prov:wasDerivedFrom
page length (characters) of wiki page
OMIM id
foaf:isPrimaryTopicOf
is Link from a Wikipage to another Wikipage of
is Wikipage disambiguates of
is foaf:primaryTopic of
Faceted Search & Find service v1.17_git139 as of Feb 29 2024


Alternative Linked Data Documents: ODE     Content Formats:   [cxml] [csv]     RDF   [text] [turtle] [ld+json] [rdf+json] [rdf+xml]     ODATA   [atom+xml] [odata+json]     Microdata   [microdata+json] [html]    About   
This material is Open Knowledge   W3C Semantic Web Technology [RDF Data] Valid XHTML + RDFa
OpenLink Virtuoso version 08.03.3330 as of Mar 19 2024, on Linux (x86_64-generic-linux-glibc212), Single-Server Edition (62 GB total memory, 48 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software