Term Name: | progeria |
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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. |
Ontology: | Human Disease [DOID:3911] ( DOID:3911 ) |