progeria
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
class Information
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disease_ontology