OBO ID: DOID:3911
Term Name: progeria Search Ontology:
Synonyms:
  • HGPS
  • Hutchinson Gilford syndrome
  • Hutchinson-Gilford disease
  • Hutchinson-Gilford Progeria syndrome
Definition: A 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 LMNA on chromosome 1q22. (2)
References:
  • GARD:7467
  • ICD10CM:E34.8
  • MEDDRA:10036794
  • MESH:D011371
  • NCI:C34951
  • OMIM:176670
  • ORDO:740
  • SNOMEDCT_US_2020_09_01:190590004
  • UMLS_CUI:C0033300
Ontology: Human Disease   (DOID:3911)
OTHER progeria PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LMNA Hutchinson-Gilford progeria 176670
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)