Skip to main content

Human Diseases (thesaurus)

Search from vocabulary

align
annotate
download

Concept information

disease > genetic disease > hereditary disease > Angelman syndrome
... > disease > nervous system diseases > neurological disorder > psychomotor disorder > psychomotor retardation > Angelman syndrome
... > disease > nervous system diseases > neurological disorder > communication disorder > language disorder > Angelman syndrome
... > disease > nervous system diseases > central nervous system diseases > cerebral disorder > ataxia > Angelman syndrome
... > disease > nervous system diseases > central nervous system diseases > cerebral disorder > extrapyramidal syndrome > dyskinesia > ataxia > Angelman syndrome
... > disease > striated muscle disease > dystonia > extrapyramidal syndrome > dyskinesia > ataxia > Angelman syndrome
... > disease > nervous system diseases > neurological disorder > involuntary movement > dystonia > extrapyramidal syndrome > dyskinesia > ataxia > Angelman syndrome
... > disease > nervous system diseases > neurological disorder > involuntary movement > extrapyramidal syndrome > dyskinesia > ataxia > Angelman syndrome
... > disease > nervous system diseases > neurological disorder > involuntary movement > dyskinesia > ataxia > Angelman syndrome
disease > psychopathology > mental disorder > behavioral disorder > Angelman syndrome
disease > stomatology > dysmorphic facies > Angelman syndrome
... > disease > congenital disease > malformation > dysmorphia > dysmorphic facies > Angelman syndrome
disease > complex syndrome > Angelman syndrome
... > disease > nervous system diseases > central nervous system diseases > cerebral disorder > epilepsy > West syndrome > Angelman syndrome
disease > cardiovascular disease > heart disease > arrhythmia > Angelman syndrome

Preferred term

Angelman syndrome  

Definition

  • Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system. Symptoms include a small head and a specific facial appearance, severe intellectual disability, developmental disability, speaking problems, balance and movement problems, seizures, and sleep problems. (Wikipedia)

Broader concept

In other languages

URI

http://data.loterre.fr/ark:/67375/VH8-PFH90FG8-8

Download this concept:

RDF/XML TURTLE JSON-LD