Matches in DBpedia 2014 for { <http://dbpedia.org/resource/Acrodysostosis> ?p ?o. }
Showing items 1 to 41 of
41
with 100 items per page.
- Acrodysostosis abstract "Acrodysostosis also known as Arkless-Graham syndrome or Maroteaux-Malamut syndrome is a rare congenital malformation syndrome which involves shortening of the interphalangeal joints of the hands and feet, Intellectual_disability in approximately 90% of affected children, and peculiar faces. Other common abnormalities include short head (as measured front to back), small broad upturned nose with flat nasal bridge, protruding jaw, increased bone age, Intrauterine growth retardation, juvenile arthritis and short stature. Further abnormalities of the skin, genitals, teeth, and skeleton may occur. Most reported cases have been sporadic, but it has been suggested that the condition might be genetically related i.e. in an autosomal dominant mode of transmission. Both males and females are affected. The disorder has been associated with the older age of parents at the time of conception. A PRKAR1A mutation has been identified in acrodysostosis with hormone resistance.".
- Acrodysostosis diseasesdb "31405".
- Acrodysostosis medlineplus "001248".
- Acrodysostosis omim "101800".
- Acrodysostosis wikiPageExternalLink rdbdetail_abstract.html?disname=Acrodysostosis.
- Acrodysostosis wikiPageID "10728191".
- Acrodysostosis wikiPageRevisionID "590285172".
- Acrodysostosis diseasesdb "31405".
- Acrodysostosis hasPhotoCollection Acrodysostosis.
- Acrodysostosis medlineplus "1248".
- Acrodysostosis name "Acrodysostosis syndrome".
- Acrodysostosis omim "101800".
- Acrodysostosis wordnet_type synset-disease-noun-1.
- Acrodysostosis subject Category:Congenital_disorders.
- Acrodysostosis subject Category:Rare_diseases.
- Acrodysostosis type Abnormality114501726.
- Acrodysostosis type Abstraction100002137.
- Acrodysostosis type Anomaly114505821.
- Acrodysostosis type Attribute100024264.
- Acrodysostosis type BirthDefect114465048.
- Acrodysostosis type Condition113920835.
- Acrodysostosis type CongenitalDisorders.
- Acrodysostosis type Defect114464005.
- Acrodysostosis type Imperfection114462666.
- Acrodysostosis type PhysicalCondition114034177.
- Acrodysostosis type State100024720.
- Acrodysostosis type Disease.
- Acrodysostosis type AilmentCondition.
- Acrodysostosis type Situation.
- Acrodysostosis comment "Acrodysostosis also known as Arkless-Graham syndrome or Maroteaux-Malamut syndrome is a rare congenital malformation syndrome which involves shortening of the interphalangeal joints of the hands and feet, Intellectual_disability in approximately 90% of affected children, and peculiar faces.".
- Acrodysostosis label "Acrodisostosis".
- Acrodysostosis label "Acrodysostosis".
- Acrodysostosis sameAs Akrodysostose.
- Acrodysostosis sameAs Acrodisostosis.
- Acrodysostosis sameAs m.02qnfx3.
- Acrodysostosis sameAs Q4357287.
- Acrodysostosis sameAs Q4357287.
- Acrodysostosis sameAs Acrodysostosis.
- Acrodysostosis wasDerivedFrom Acrodysostosis?oldid=590285172.
- Acrodysostosis isPrimaryTopicOf Acrodysostosis.
- Acrodysostosis name "Acrodysostosis syndrome".