OntologiesdoidclassesDOID:3911   
progeria
http://purl.obolibrary.org/obo/DOID_3911

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.

OMIM mapping confirmed by DO. [SN].

Also appears inbao
Exact Synonyms
HGPS
Hutchinson Gilford syndrome
Hutchinson-Gilford disease
Hutchinson-Gilford Progeria syndrome