Matches in DBpedia 2015-10 for { <http://dbpedia.org/resource/Achondrogenesis> ?p ?o }
Showing triples 1 to 57 of
57
with 100 triples per page.
- Achondrogenesis abstract "Achondrogenesis is a number of disorders that are the most severe form of congenital chondrodysplasia (malformation of bones and cartilage). These conditions are characterized by a small body, short limbs, and other skeletal abnormalities. As a result of their serious health problems, infants with achondrogenesis are usually born prematurely, are stillborn, or die shortly after birth from respiratory failure. Some infants, however, have lived for a while with intensive medical support.Researchers have described at least three forms of achondrogenesis, designated as Achondrogenesis type 1A, achondrogenesis type 1B and achondrogenesis type 2. These types are distinguished by their signs and symptoms, inheritance pattern, and genetic cause. Other types of achondrogenesis may exist, but they have not been characterized or their cause is unknown.Achondrogenesis type 1A is caused by a defect in the microtubules of the Golgi apparatus. In mice, a nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes the Golgi microtubule-associated protein 210 (GMAP-210), resulted in defects similar to the human disease. When their DNA was sequenced, human patients with achondrogenesis type 1A also had loss-of-function mutations in GMAP-210. GMAP-210 moves proteins from the endoplasmic reticulum to the Golgi apparatus. Because of the defect, GMAP-210 is not able to move the proteins, and they remain in the endoplasmic reticulum, which swells up. The loss of Golgi apparatus function affects some cells, such as those responsible for forming bone and cartilage, more than others.Achondrogenesis type 1B is caused by a similar mutation in SLC26A2, which encodes a sulfate transporter.".
- Achondrogenesis icd10 "Q77.0".
- Achondrogenesis omim "600972".
- Achondrogenesis thumbnail Achondrogenesis_type_I.jpg?width=300.
- Achondrogenesis wikiPageExternalLink ghr.nlm.nih.gov.
- Achondrogenesis wikiPageID "1850098".
- Achondrogenesis wikiPageLength "2960".
- Achondrogenesis wikiPageOutDegree "12".
- Achondrogenesis wikiPageRevisionID "547324430".
- Achondrogenesis wikiPageWikiLink Achondrogenesis.
- Achondrogenesis wikiPageWikiLink Achondrogenesis_type_1A.
- Achondrogenesis wikiPageWikiLink Achondrogenesis_type_1B.
- Achondrogenesis wikiPageWikiLink Achondrogenesis_type_2.
- Achondrogenesis wikiPageWikiLink Bone.
- Achondrogenesis wikiPageWikiLink Cartilage.
- Achondrogenesis wikiPageWikiLink Category:Congenital_disorders.
- Achondrogenesis wikiPageWikiLink Chondrodysplasia.
- Achondrogenesis wikiPageWikiLink Congenital.
- Achondrogenesis wikiPageWikiLink Congenital_disorder.
- Achondrogenesis wikiPageWikiLink Golgi_apparatus.
- Achondrogenesis wikiPageWikiLink Osteochondrodysplasia.
- Achondrogenesis wikiPageWikiLink Premature_birth.
- Achondrogenesis wikiPageWikiLink Preterm_birth.
- Achondrogenesis wikiPageWikiLink Stillbirth.
- Achondrogenesis wikiPageWikiLink File:Achondrogenesis_type_I_radiogram.jpg.
- Achondrogenesis wikiPageWikiLinkText "Achondrogenesis".
- Achondrogenesis wikiPageWikiLinkText "achondrogenesis".
- Achondrogenesis caption "The appearance of the female baby with achondrogenesis type I after birth. Baby weighed 1810 grams and measured 31 centimeters; died within the first thirty minutes of birth.".
- Achondrogenesis diseasesdb "33350".
- Achondrogenesis hasPhotoCollection Achondrogenesis.
- Achondrogenesis icd "Q77.0".
- Achondrogenesis medlineplus "1247".
- Achondrogenesis name "Achondrogenesis".
- Achondrogenesis omim "600972".
- Achondrogenesis wikiPageUsesTemplate Template:Commons_category.
- Achondrogenesis wikiPageUsesTemplate Template:Infobox_disease.
- Achondrogenesis wikiPageUsesTemplate Template:Osteochondrodysplasia.
- Achondrogenesis subject Category:Congenital_disorders.
- Achondrogenesis hypernym Number.
- Achondrogenesis type Disease.
- Achondrogenesis type Disorder.
- Achondrogenesis type Pediatric.
- Achondrogenesis type Thing.
- Achondrogenesis type Q12136.
- Achondrogenesis comment "Achondrogenesis is a number of disorders that are the most severe form of congenital chondrodysplasia (malformation of bones and cartilage). These conditions are characterized by a small body, short limbs, and other skeletal abnormalities. As a result of their serious health problems, infants with achondrogenesis are usually born prematurely, are stillborn, or die shortly after birth from respiratory failure.".
- Achondrogenesis label "Achondrogenesis".
- Achondrogenesis sameAs Achondrogenesie.
- Achondrogenesis sameAs Acondrogénesis.
- Achondrogenesis sameAs Achondrogenèse.
- Achondrogenesis sameAs Achondrogeneza.
- Achondrogenesis sameAs m.060x6x.
- Achondrogenesis sameAs Q2823145.
- Achondrogenesis sameAs Q2823145.
- Achondrogenesis wasDerivedFrom Achondrogenesis?oldid=547324430.
- Achondrogenesis depiction Achondrogenesis_type_I.jpg.
- Achondrogenesis isPrimaryTopicOf Achondrogenesis.
- Achondrogenesis name "Achondrogenesis".