Matches in DBpedia 2014 for { <http://dbpedia.org/resource/Rett_syndrome> ?p ?o. }
Showing items 1 to 90 of
90
with 100 items per page.
- Rett_syndrome abstract "Rett syndrome, originally termed as cerebroatrophic hyperammonemia, is a neurodevelopmental disorder of the grey matter of the brain that almost exclusively affects females but has also been found in male patients. The clinical features include small hands and feet and a deceleration of the rate of head growth (including microcephaly in some). Repetitive stereotyped hand movements, such as wringing and/or repeatedly putting hands into the mouth, are also noted. People with Rett syndrome are prone to gastrointestinal disorders and up to 80% have seizures. They typically have no verbal skills, and about 50% of individuals affected do not walk. Scoliosis, growth failure, and constipation are very common and can be problematic.The signs of this disorder are most easily confused with those of Angelman syndrome, cerebral palsy and autism.In DSM-IV-TR Rett's disorder is listed under the broad category of pervasive developmental disorders, together with the autism spectrum disorders and childhood disintegrative disorder. Some argue that it is misclassified in this group, as it is similar to non-autistic spectrum disorders such as fragile X syndrome, tuberous sclerosis, or Down syndrome where one can see autistic features. Its removal from DSM-5 has been proposed because it has a specific etiology.It was first described by Austrian pediatrician Andreas Rett in 1966. Huda Zoghbi demonstrated in 1999 that Rett syndrome is caused by mutations in the gene MECP2.".
- Rett_syndrome diseasesdb "29908".
- Rett_syndrome icd10 "F84.2".
- Rett_syndrome icd9 "330.8".
- Rett_syndrome medlineplus "001536".
- Rett_syndrome omim "312750".
- Rett_syndrome wikiPageExternalLink 916377-overview.
- Rett_syndrome wikiPageID "56476".
- Rett_syndrome wikiPageRevisionID "606561687".
- Rett_syndrome diseasesdb "29908".
- Rett_syndrome genereviewsname "MECP2-Related Disorders".
- Rett_syndrome genereviewsnbk "NBK1497".
- Rett_syndrome hasPhotoCollection Rett_syndrome.
- Rett_syndrome icd "330.8".
- Rett_syndrome icd "F84.2".
- Rett_syndrome medlineplus "1536".
- Rett_syndrome meshname "Rett+Syndrome".
- Rett_syndrome meshnumber "C10.574.500.775".
- Rett_syndrome name "Rett Syndrome".
- Rett_syndrome omim "312750".
- Rett_syndrome wordnet_type synset-disease-noun-1.
- Rett_syndrome subject Category:Autism.
- Rett_syndrome subject Category:Communication_disorders.
- Rett_syndrome subject Category:Learning_disabilities.
- Rett_syndrome subject Category:Neurological_disorders.
- Rett_syndrome subject Category:Neurological_disorders_in_children.
- Rett_syndrome subject Category:Pervasive_developmental_disorders.
- Rett_syndrome subject Category:Psychiatric_diagnosis.
- Rett_syndrome subject Category:Syndromes.
- Rett_syndrome subject Category:X-linked_dominant_disorders.
- Rett_syndrome type Abstraction100002137.
- Rett_syndrome type Attribute100024264.
- Rett_syndrome type Cognition100023271.
- Rett_syndrome type CommunicationDisorders.
- Rett_syndrome type Complex105870365.
- Rett_syndrome type Concept105835747.
- Rett_syndrome type Condition113920835.
- Rett_syndrome type Content105809192.
- Rett_syndrome type Disease114070360.
- Rett_syndrome type Disorder114052403.
- Rett_syndrome type Idea105833840.
- Rett_syndrome type IllHealth114052046.
- Rett_syndrome type Illness114061805.
- Rett_syndrome type LearningDisabilities.
- Rett_syndrome type LearningDisorder114060688.
- Rett_syndrome type NervousDisorder114084880.
- Rett_syndrome type NeurologicalDisorders.
- Rett_syndrome type NeurologicalDisordersInChildren.
- Rett_syndrome type PathologicalState114051917.
- Rett_syndrome type PervasiveDevelopmentalDisorders.
- Rett_syndrome type PhysicalCondition114034177.
- Rett_syndrome type PsychologicalFeature100023100.
- Rett_syndrome type State100024720.
- Rett_syndrome type Syndrome105870790.
- Rett_syndrome type Syndromes.
- Rett_syndrome type Whole105869584.
- Rett_syndrome type X-linkedDominantDisorders.
- Rett_syndrome type Disease.
- Rett_syndrome type AilmentCondition.
- Rett_syndrome type Situation.
- Rett_syndrome comment "Rett syndrome, originally termed as cerebroatrophic hyperammonemia, is a neurodevelopmental disorder of the grey matter of the brain that almost exclusively affects females but has also been found in male patients. The clinical features include small hands and feet and a deceleration of the rate of head growth (including microcephaly in some). Repetitive stereotyped hand movements, such as wringing and/or repeatedly putting hands into the mouth, are also noted.".
- Rett_syndrome label "Rett syndrome".
- Rett_syndrome label "Rett-Syndrom".
- Rett_syndrome label "Sindrome di Rett".
- Rett_syndrome label "Syndrome de Rett".
- Rett_syndrome label "Syndroom van Rett".
- Rett_syndrome label "Síndrome de Rett".
- Rett_syndrome label "Síndrome de Rett".
- Rett_syndrome label "Zespół Retta".
- Rett_syndrome label "Синдром Ретта".
- Rett_syndrome label "متلازمة ريت".
- Rett_syndrome label "レット症候群".
- Rett_syndrome sameAs Rett-Syndrom.
- Rett_syndrome sameAs Σύνδρομο_Ρετ.
- Rett_syndrome sameAs Síndrome_de_Rett.
- Rett_syndrome sameAs Syndrome_de_Rett.
- Rett_syndrome sameAs Sindrome_di_Rett.
- Rett_syndrome sameAs レット症候群.
- Rett_syndrome sameAs 레트_증후군.
- Rett_syndrome sameAs Syndroom_van_Rett.
- Rett_syndrome sameAs Zespół_Retta.
- Rett_syndrome sameAs Síndrome_de_Rett.
- Rett_syndrome sameAs m.0fm3d.
- Rett_syndrome sameAs Q917357.
- Rett_syndrome sameAs Q917357.
- Rett_syndrome sameAs 996.
- Rett_syndrome sameAs Rett_syndrome.
- Rett_syndrome wasDerivedFrom Rett_syndrome?oldid=606561687.
- Rett_syndrome isPrimaryTopicOf Rett_syndrome.
- Rett_syndrome name "Rett Syndrome".