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Human Disease

variant ABeta2M amyloidosis

Term ID
DOID:0080929
Synonyms
  • Autosomal dominant beta2-microglobulinic amyloidosis
Definition
An amyloidosis that is characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy. https://pubmed.ncbi.nlm.nih.gov/32392555/
References
  • ORDO:314652
Ontology
Human Disease   ( DOID:0080929 )
Relationships
is a type of
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Genes Involved
Zebrafish Models