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Hutchinson-Gilford progeria syndrome

Disease Summary
Associated Targets (12)
Tbio

8

Tclin

2

Tchem

2


Explore Associated Targets
Mondo Description Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).
Uniprot Description Rare genetic disorder characterized by features reminiscent of marked premature aging.
Mondo Term and Equivalent IDs
MONDO:0008310:  Hutchinson-Gilford progeria syndrome
GARD:0007467: 
MESH:D011371: 
NCIT:C34951: 
Orphanet:740: 
SCTID:238870004: 
UMLS:C0033300: 
UMLS:CN236401: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)