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Summary Literature (3)
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

Referenced OMIM:
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
Parent(s): autosomal genetic disease (is_a), autosomal recessive disease (is_a), syndrome (is_a)


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Version: 4.14.0
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