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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 disease, Hutchinson-Gilford Progeria syndrome, Hutchinson Gilford syndrome
Xenbase Genes
:
lmna,
zmpste24
| MONDO:0008310 - nasopharyngeal gland |
| MIM:176670 - HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS |
Other Model Organisms: Alliance, 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)