DOID:3911 - progeria
Disease Ontology 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.
Synonyms: HGPS, Hutchinson Gilford syndrome, Hutchinson-Gilford Progeria syndrome, Hutchinson-Gilford disease
|OMIM:176670 - HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS|
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes : lmna
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD