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
• NCI:C34951
• OMIM:176670
• ORDO:740
• SNOMEDCT_US_2023_03_01:190590004
• UMLS_CUI:C0033300

Ontology

Human Disease   ( DOID:3911 )