About: Acromicric dysplasia     Goto   Sponge   NotDistinct   Permalink

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

Acromicric dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and feet, growth retardation and delayed bone maturation leading to short stature. Most cases have occurred randomly for no apparent reason (sporadically). However, autosomal dominant inheritance has not been ruled out. According to the disease database, Acromicric dysplasia is synonymous with Geleophysic dysplasia(or Geleophysic Dwarfism) and Focal mucopolysaccharidosis.

AttributesValues
rdf:type
rdfs:label
  • Acromicric dysplasia
  • Akromikrische Dysplasie
rdfs:comment
  • Die Akromikrische Dysplasie ist eine sehr seltene angeborene Skelettdysplasie mit den Hauptmerkmalen Kleinwuchs, leichte Gesichtsdysmorphie, Akromikrie (kurze Hände und Füße) mit charakteristischen Veränderungen im Röntgenbild. Die Bezeichnung wurde von den Autoren der Erstbeschreibung aus dem Jahre 1986, dem Pariser Kinderarzt und Humangenetiker Pierre Maroteaux und Mitarbeiter, vorgeschlagen.
  • Acromicric dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and feet, growth retardation and delayed bone maturation leading to short stature. Most cases have occurred randomly for no apparent reason (sporadically). However, autosomal dominant inheritance has not been ruled out. According to the disease database, Acromicric dysplasia is synonymous with Geleophysic dysplasia(or Geleophysic Dwarfism) and Focal mucopolysaccharidosis.
foaf:name
  • Acromicric dysplasia
name
  • Acromicric dysplasia
foaf:isPrimaryTopicOf
dct:subject
Wikipage page ID
Wikipage revision ID
Link from a Wikipage to another Wikipage
Link from a Wikipage to an external page
sameAs
dbp:wikiPageUsesTemplate
synonyms
  • Acromicric skeletal dysplasia
has abstract
  • Die Akromikrische Dysplasie ist eine sehr seltene angeborene Skelettdysplasie mit den Hauptmerkmalen Kleinwuchs, leichte Gesichtsdysmorphie, Akromikrie (kurze Hände und Füße) mit charakteristischen Veränderungen im Röntgenbild. Die Bezeichnung wurde von den Autoren der Erstbeschreibung aus dem Jahre 1986, dem Pariser Kinderarzt und Humangenetiker Pierre Maroteaux und Mitarbeiter, vorgeschlagen.
  • Acromicric dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and feet, growth retardation and delayed bone maturation leading to short stature. Most cases have occurred randomly for no apparent reason (sporadically). However, autosomal dominant inheritance has not been ruled out. According to the disease database, Acromicric dysplasia is synonymous with Geleophysic dysplasia(or Geleophysic Dwarfism) and Focal mucopolysaccharidosis.
MeSH ID
  • C535662
DiseasesDB
GeneReviewsName
  • Geleophysic Dysplasia
GeneReviewsNBK
  • NBK11168
ICD
  • Q77.8
MeshID
  • 535662.0
OMIM
Orphanet
DiseasesDB
  • 32737
geneReviewsId
  • NBK11168
geneReviewsName
  • Geleophysic Dysplasia
ICD10
  • Q77.8
OMIM id
ORPHA
  • 969
dbp:wordnet_type
prov:wasDerivedFrom
page length (characters) of wiki page
is foaf:primaryTopic of
is Link from a Wikipage to another Wikipage of
is Wikipage redirect of
Faceted Search & Find service v1.17_git51 as of Sep 16 2020


Alternative Linked Data Documents: PivotViewer | iSPARQL | ODE     Content Formats:       RDF       ODATA       Microdata      About   
This material is Open Knowledge   W3C Semantic Web Technology [RDF Data] Valid XHTML + RDFa
OpenLink Virtuoso version 08.03.3319 as of Dec 29 2020, on Linux (x86_64-centos_6-linux-glibc2.12), Single-Server Edition (61 GB total memory)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2021 OpenLink Software