progeria
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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]
Term info
progeria
- HGPS
- Hutchinson Gilford syndrome
- Hutchinson-Gilford Progeria syndrome
- Hutchinson-Gilford disease
DO_FlyBase_slim, NCIthesaurus
OMIM mapping confirmed by DO. [SN].
disease_ontology
DOID:3911