Human Disease Ontology

Last uploaded: March 2, 2018
Preferred Name

transthyretin amyloidosis

Synonyms

familial amyloid polyneuropathy

transthyretin-related hereditary amyloidosis

TTR amyloidosis

Familial transthyretin amyloidosis

Amyloidosis, hereditary, transthyretin-related

Corino de Andrade's disease

Definitions

OMIM mapping confirmed by DO. [SN]. 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.

ID

http://purl.obolibrary.org/obo/DOID_0050638

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

OMIM:105210

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.

has_exact_synonym

familial amyloid polyneuropathy

transthyretin-related hereditary amyloidosis

TTR amyloidosis

Familial transthyretin amyloidosis

Amyloidosis, hereditary, transthyretin-related

Corino de Andrade's disease

has_obo_namespace

disease_ontology

id

DOID:0050638

in_subset

http://purl.obolibrary.org/obo/doid#DO_FlyBase_slim

label

transthyretin amyloidosis

notation

DOID:0050638

prefLabel

transthyretin amyloidosis

treeView

http://purl.obolibrary.org/obo/DOID_9120

subClassOf

http://purl.obolibrary.org/obo/DOID_9120

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http://purl.obolibrary.org/obo/DOID_0050638 MONDO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050638 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050638 NIFSTD SAME_URI