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Metadata
DOID DOID:0050638
Name transthyretin amyloidosis
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.
http://en.wikipedia.org/wiki/Transthyretin-related_hereditary_amyloidosis, http://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis, http://www.ncbi.nlm.nih.gov/books/NBK1194/, http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=85451, https://www.ncbi.nlm.nih.gov/pubmed/19372706
Xrefs

OMIM:105210

Subsets

DO_FlyBase_slim

Synonyms

Amyloidosis, hereditary, transthyretin-related [EXACT]

Corino de Andrade's disease [EXACT]

familial amyloid polyneuropathy [EXACT]

Familial transthyretin amyloidosis [EXACT]

transthyretin-related hereditary amyloidosis [EXACT]

TTR amyloidosis [EXACT]

Relationships

is_a amyloidosis

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