progeria

Summary

DOID:3911 - progeria

Disease Ontology 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.

Synonyms: HGPS, Hutchinson Gilford syndrome, Hutchinson-Gilford Progeria syndrome, Hutchinson-Gilford disease,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: lmna, zmpste24

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008310 - Hutchinson-Gilford progeria syndrome

MONDO:0008310 - Hutchinson-Gilford progeria syndrome

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), autosomal genetic disease (is_a), autosomal recessive disease (is_a), progeroid syndrome (is_a), syndrome (is_a)