|
DOID:0050638 - hereditary systemic amyloidosis 1
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: transthyretin amyloidosis, Amyloidosis, hereditary, transthyretin-related, ATTR amyloidosis, ATTRm amyloidosis, Corino de Andrade's disease, familial amyloid polyneuropathy, Familial transthyretin amyloidosis, transthyretin-related hereditary amyloidosis, TTR amyloidosis, paramyloidosis
Xenbase Genes
:
ttr
| MONDO:0007100 - primary circulatory organ |
| MIM:105210 - AMYLOIDOSIS, HEREDITARY SYSTEMIC 1; AMYLD1 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s):
amyloidosis (is_a),
autosomal dominant disease (is_a),
heart disease (is_a),
inherited metabolic disorder (is_a)