Metadata | |
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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://rarediseases.info.nih.gov/diseases/13193/hereditary-alpha-tryptasemia-syndrome, https://www.niaid.nih.gov/research/hereditary-alpha-tryptasemia-faq, https://pubmed.ncbi.nlm.nih.gov/27749843/, https://pubmed.ncbi.nlm.nih.gov/30007465/ |
Xrefs | |
Subsets |
DO_rare_slim |
Parent Relationships |
is_a syndrome |
Subclass Logical Relationships |
has material basis in some gene and has material basis in some duplication derives from some mast cell |