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Summary Literature (0)
DOID:0050637 - Finnish type amyloidosis

Disease Ontology Definition:An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has_material_basis_in mutations in the gelsolin gene (GSN), and has_symptom corneal lattice dystrophy, has_symptom bilateral facial paralysis, has_symptom cutis laxa.

Synonyms: AGel amyloidosis, AMYLOIDOSIS, MERETOJA TYPE, gelsolin amyloidosis, Lattice corneal dystrophy type II

Xenbase Genes : gsn

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007097 - Finnish type amyloidosis

MIM:
MIM:105120 - AMYLOIDOSIS, FINNISH TYPE

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): amyloidosis (is_a), autosomal dominant disease (is_a), eye disease (is_a), primary cutaneous amyloidosis (is_a)