National Drug File - Reference Terminology

Last uploaded: July 6, 2018
Jump to:
loading...
Preferred Name

Prader-Willi Syndrome [Disease/Finding]
Synonyms

Prader-Labhart-Willi Syndrome
ID

http://purl.bioontology.org/ontology/NDFRT/N0000002472
altLabel

Prader-Labhart-Willi Syndrome

Labhart-Willi-Prader-Fanconi Syndrome

Labhart-Willi Syndrome

Prader-Willi Syndrome

Willi-Prader Syndrome

Prader Labhart Willi Syndrome
cui

C0032897
May be treated by

http://purl.bioontology.org/ontology/NDFRT/N0000177229

http://purl.bioontology.org/ontology/NDFRT/N0000177243

http://purl.bioontology.org/ontology/NDFRT/N0000148207

http://purl.bioontology.org/ontology/NDFRT/N0000177235

http://purl.bioontology.org/ontology/NDFRT/N0000177244

http://purl.bioontology.org/ontology/NDFRT/N0000177222

http://purl.bioontology.org/ontology/NDFRT/N0000177233

http://purl.bioontology.org/ontology/NDFRT/N0000163961

http://purl.bioontology.org/ontology/NDFRT/N0000191680

http://purl.bioontology.org/ontology/NDFRT/N0000177238

http://purl.bioontology.org/ontology/NDFRT/N0000177253

http://purl.bioontology.org/ontology/NDFRT/N0000177236

http://purl.bioontology.org/ontology/NDFRT/N0000177237

http://purl.bioontology.org/ontology/NDFRT/N0000177227

http://purl.bioontology.org/ontology/NDFRT/N0000183223

http://purl.bioontology.org/ontology/NDFRT/N0000177240

http://purl.bioontology.org/ontology/NDFRT/N0000177221

http://purl.bioontology.org/ontology/NDFRT/N0000177241

http://purl.bioontology.org/ontology/NDFRT/N0000148258

http://purl.bioontology.org/ontology/NDFRT/N0000177245

http://purl.bioontology.org/ontology/NDFRT/N0000177247

http://purl.bioontology.org/ontology/NDFRT/N0000177239

http://purl.bioontology.org/ontology/NDFRT/N0000177223

http://purl.bioontology.org/ontology/NDFRT/N0000147492

http://purl.bioontology.org/ontology/NDFRT/N0000177226

http://purl.bioontology.org/ontology/NDFRT/N0000177225

http://purl.bioontology.org/ontology/NDFRT/N0000192731

http://purl.bioontology.org/ontology/NDFRT/N0000147652

http://purl.bioontology.org/ontology/NDFRT/N0000177230

http://purl.bioontology.org/ontology/NDFRT/N0000177224

http://purl.bioontology.org/ontology/NDFRT/N0000163963

http://purl.bioontology.org/ontology/NDFRT/N0000177242

http://purl.bioontology.org/ontology/NDFRT/N0000177255
MESH DEFINITION

An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)
MESH DUI

D011218
MeSH name

Prader-Willi Syndrome
MESH UI

M0017431
NDFRT kind

DISEASE_KIND
notation

N0000002472
NUI

N0000002472
prefLabel

Prader-Willi Syndrome [Disease/Finding]
SNOMED CID

89392001
tui

T047
subClassOf

http://purl.bioontology.org/ontology/NDFRT/N0000000266
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping