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- Achondrogenesis_type_2 abstract "Infants with achondrogenesis, type 2 have short arms and legs, a small chest with short ribs, and underdeveloped lungs. Achondrogenesis, type 2 is a subtype of collagenopathy, types II and XI. This condition is also associated with a lack of bone formation (ossification) in the spine and pelvis. Typical facial features include a prominent forehead, a small chin, and, in some cases, an opening in the roof of the mouth (a cleft palate). The abdomen is enlarged, and affected infants often have a condition called hydrops fetalis in which excess fluid builds up in the body before birth. The skull bones may be soft, but they often appear normal on X-ray images. In contrast, bones in the spine (vertebrae) and pelvis do not harden.Achondrogenesis, type 2 and hypochondrogenesis (a similar skeletal disorder) together affect 1 in 40,000 to 60,000 births. Achondrogenesis, type 2 is one of several skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). It is essential for the normal development of bones and other tissues that form the body's supportive framework (connective tissues). Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly.Achondrogenesis, type 2 is considered an autosomal dominant disorder because one copy of the altered gene in each cell is sufficient to cause the condition. The disorder is not passed on to the next generation, however, because affected individuals hardly survive past puberty.".
- Achondrogenesis_type_2 diseasesdb "32635".
- Achondrogenesis_type_2 icd10 "Q77.0".
- Achondrogenesis_type_2 omim "200610".
- Achondrogenesis_type_2 wikiPageExternalLink ghr.nlm.nih.gov.
- Achondrogenesis_type_2 wikiPageID "2573790".
- Achondrogenesis_type_2 wikiPageRevisionID "531528250".
- Achondrogenesis_type_2 diseasesdb "32635".
- Achondrogenesis_type_2 hasPhotoCollection Achondrogenesis_type_2.
- Achondrogenesis_type_2 icd "Q77.0".
- Achondrogenesis_type_2 name "Achondrogenesis type 2".
- Achondrogenesis_type_2 omim "200610".
- Achondrogenesis_type_2 subject Category:Collagen_disease.
- Achondrogenesis_type_2 subject Category:Congenital_disorders.
- Achondrogenesis_type_2 type Disease.
- Achondrogenesis_type_2 type AilmentCondition.
- Achondrogenesis_type_2 type Situation.
- Achondrogenesis_type_2 comment "Infants with achondrogenesis, type 2 have short arms and legs, a small chest with short ribs, and underdeveloped lungs. Achondrogenesis, type 2 is a subtype of collagenopathy, types II and XI. This condition is also associated with a lack of bone formation (ossification) in the spine and pelvis. Typical facial features include a prominent forehead, a small chin, and, in some cases, an opening in the roof of the mouth (a cleft palate).".
- Achondrogenesis_type_2 label "Achondrogenesis type 2".
- Achondrogenesis_type_2 sameAs m.05h5p7x.
- Achondrogenesis_type_2 sameAs Q17010866.
- Achondrogenesis_type_2 sameAs Q17010866.
- Achondrogenesis_type_2 sameAs 19.
- Achondrogenesis_type_2 wasDerivedFrom Achondrogenesis_type_2?oldid=531528250.
- Achondrogenesis_type_2 isPrimaryTopicOf Achondrogenesis_type_2.
- Achondrogenesis_type_2 name "Achondrogenesis type 2".