| Metadata | |
|---|---|
| ID | DOID:0080929 |
| Name | variant ABeta2M 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/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Autosomal dominant beta2-microglobulinic amyloidosis [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a inherited metabolic disorder is_a amyloidosis |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |