Search Ontology:
Human Disease

progeria

Term ID
DOID:3911
Synonyms
  • HGPS
  • Hutchinson Gilford syndrome
  • Hutchinson-Gilford disease
  • Hutchinson-Gilford Progeria syndrome
Definition
A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22. (3)
References
  • GARD:7467
  • ICD10CM:E34.8
  • MEDDRA:10036794
  • MESH:D011371
  • MIM:176670
  • NCI:C34951
  • ORDO:740
  • SNOMEDCT_US_2023_03_01:190590004
  • UMLS_CUI:C0033300
Ontology
Human Disease   ( DOID:3911 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models