Mondo Disease Ontology

Last uploaded: May 9, 2024
Preferred Name

AL amyloidosis

Synonyms

amyloidosis primary systemic

primary AL amyloidosis

primary systemic AL amyloidosis

systemic AL amyloidsis

amyloidosis AL

primary systemic amyloidosis

Light chain amyloidosis

Light-chain amyloidosis

primary amyloidosis

Definitions

AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ.

ID

http://purl.obolibrary.org/obo/MONDO_0019438

closeMatch

http://identifiers.org/meddra/10036673

database_cross_reference

GARD:5797

DOID:0080933

MedDRA:10036673

NCIT:C158963

UMLS:C0268381

icd11.foundation:113043090

MESH:C531616

Orphanet:85443

definition

AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_85443

http://purl.obolibrary.org/obo/DOID_0080933

http://purl.obolibrary.org/obo/NCIT_C158963

http://linkedlifedata.com/resource/umls/id/C0268381

http://identifiers.org/mesh/C531616

has_exact_synonym

Light-chain amyloidosis

primary amyloidosis

has_related_synonym

amyloidosis primary systemic

primary AL amyloidosis

primary systemic AL amyloidosis

systemic AL amyloidsis

amyloidosis AL

primary systemic amyloidosis

Light chain amyloidosis

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/6752

id

MONDO:0019438

in_subset

http://purl.obolibrary.org/obo/mondo#ordo_disease

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#nord_rare

http://purl.obolibrary.org/obo/mondo#orphanet_rare

http://purl.obolibrary.org/obo/mondo#otar

http://purl.obolibrary.org/obo/mondo#gard_rare

label

AL amyloidosis

notation

MONDO:0019438

prefLabel

AL amyloidosis

treeView

http://purl.obolibrary.org/obo/MONDO_0005071

http://purl.obolibrary.org/obo/MONDO_0016330

http://purl.obolibrary.org/obo/MONDO_0016345

http://purl.obolibrary.org/obo/MONDO_0019065

http://purl.obolibrary.org/obo/MONDO_0006504

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019724

subClassOf

http://purl.obolibrary.org/obo/MONDO_0005071

http://purl.obolibrary.org/obo/MONDO_0016330

http://purl.obolibrary.org/obo/MONDO_0016345

http://purl.obolibrary.org/obo/MONDO_0019065

http://purl.obolibrary.org/obo/MONDO_0006504

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