Summary Literature (0)

DOID:0050638 - transthyretin amyloidosis

Disease Ontology Definition:An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene.

Synonyms: Amyloidosis, hereditary, transthyretin-related, Corino de Andrade's disease, Familial transthyretin amyloidosis, TTR amyloidosis, familial amyloid polyneuropathy, transthyretin-related hereditary amyloidosis,

Echinobase Genes :


OMIM:

MIM:105210 - amyloidosis, hereditary, transthyretin-related

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

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