Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:abbreviation |
HGPS
|
| gptkbp:affects |
children
|
| gptkbp:alsoKnownAs |
gptkb:Hutchinson-Gilford_progeria_syndrome
|
| gptkbp:category |
syndrome
pediatric disease |
| gptkbp:complication |
heart attack
stroke |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
gptkb:Jonathan_Hutchinson
1886 Hastings Gilford |
| https://www.w3.org/2000/01/rdf-schema#label |
progeria
|
| gptkbp:inheritance |
sporadic
|
| gptkbp:lifeExpectancy |
13 years
|
| gptkbp:mutationAssociatedWith |
gptkb:LMNA_gene
|
| gptkbp:notableFeature |
premature aging
|
| gptkbp:onset |
early childhood
|
| gptkbp:prevalence |
1 in 20 million
|
| gptkbp:symptom |
gptkb:cardiovascular_disease
hair loss joint stiffness growth failure aged-looking skin loss of body fat |
| gptkbp:treatment |
gptkb:lonafarnib
supportive care |
| gptkbp:bfsParent |
gptkb:Kimberly_Akimbo_(play)
|
| gptkbp:bfsLayer |
6
|