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Echinobase
Summary Literature (0)
DOID:0081334 - Nestor-Guillermo progeria syndrome

Disease Ontology Definition:A progeroid syndrome that is characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life and that has_material_basis_in homozygous mutation in the BANF1 gene on chromosome 11q13. Onset is after 2 years of age.

Synonyms: Progeria syndrome, childhood-onset, with osteolysis,

Echinobase Genes : banf1


OMIM:
MIM:614008 - nestor-guillermo progeria syndrome; ngps

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a)