Terminology Service for NFDI4Health

transthyretin amyloidosis

Go to external page http://purl.obolibrary.org/obo/DOID_0050638


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://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007645 http://purl.obolibrary.org/obo/ECO_0007638 http://purl.obolibrary.org/obo/ECO_0007646 http://purl.obolibrary.org/obo/ECO_0007636 ]

Term info

Label

transthyretin amyloidosis

Synonyms
  • Amyloidosis, hereditary, transthyretin-related
  • Corino de Andrade's disease
  • Familial transthyretin amyloidosis
  • TTR amyloidosis
  • familial amyloid polyneuropathy
  • transthyretin-related hereditary amyloidosis
database cross reference
Subsets

DO_FlyBase_slim

comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:0050638