|
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: ATTR amyloidosis, ATTRm amyloidosis, Amyloidosis, hereditary, transthyretin-related, Corino de Andrade's disease, Familial transthyretin amyloidosis, TTR amyloidosis, familial amyloid polyneuropathy, paramyloidosis, transthyretin-related hereditary amyloidosis,
Xenbase Genes
:
ttr
| MONDO:0007100 - familial amyloid neuropathy |
Other Model Organisms: AGR, 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),
heart disease (is_a),
inherited metabolic disorder (is_a)