loading...| Preferred Name |
AL amyloidosis |
|
| Synonyms |
Light chain amyloidosis primary systemic amyloidosis amyloidosis AL amyloidosis primary systemic primary systemic AL amyloidosis primary AL amyloidosis systemic AL amyloidsis primary amyloidosis Light-chain 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 | ||
| database_cross_reference |
icd11.foundation:113043090 NANDO:1200211 NCIT:C158963 Orphanet:85443 MESH:C531616 UMLS:C0268381 DOID:0080933 MedDRA:10036673 GARD:5797 |
|
| 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 |
|
| gwas_trait |
true |
|
| has_exact_synonym |
primary amyloidosis Light-chain amyloidosis |
|
| has_related_synonym |
Light chain amyloidosis primary systemic amyloidosis amyloidosis AL amyloidosis primary systemic primary systemic AL amyloidosis primary AL amyloidosis systemic AL amyloidsis |
|
| IAO_0000233 | ||
| id |
MONDO:0019438 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
| label |
AL amyloidosis |
|
| notation |
MONDO:0019438 |
|
| preferred label |
AL amyloidosis |
|
| prefLabel |
AL amyloidosis |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0016330 http://www.ebi.ac.uk/efo/EFO_0000618 |
|
| excluded_subClassOf |