| Metadata | |
|---|---|
| ID | DOID:0080714 |
| Name | hereditary alpha tryptasemia syndrome |
| Definition | A syndrome that is characterized by high blood tryptase levels and that has_material_basis_in inherited extra copies of the alpha tryptase gene (TPSAB1), effecting multiple organ systems including skin and connective tissues, the gastrointestinal and cardiovascular systems. https://pubmed.ncbi.nlm.nih.gov/27749843/, https://pubmed.ncbi.nlm.nih.gov/30007465/, https://rarediseases.info.nih.gov/diseases/13193/hereditary-alpha-tryptasemia-syndrome |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a syndrome |