Skip to main content

Human Diseases (thesaurus)

Search from vocabulary

align
annotate
download

Concept information

disease > genetic disease > hereditary disease > Coffin-Lowry syndrome
disease > developmental disorder > mental retardation > Coffin-Lowry syndrome
disease > disability > mental retardation > Coffin-Lowry syndrome

Preferred term

Coffin-Lowry syndrome  

Definition

  • Coffin–Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental problems sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoliosis, as well as auditory and visual abnormalities. (Wikipedia)

Broader concept

In other languages

URI

http://data.loterre.fr/ark:/67375/VH8-BZTPCQN7-B

Download this concept:

RDF/XML TURTLE JSON-LD