Medical Subject Headings

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/MESH/C000715748 http://purl.bioontology.org/ontology/MESH/C000715748
Preferred Name	Hereditary alpha-tryptasemia syndrome
Synonyms	Hereditary alpha-tryptasemia
Type	http://www.w3.org/2002/07/owl#Class

altLabel	Hereditary alpha-tryptasemia
prefLabel	Hereditary alpha-tryptasemia syndrome
Scope Statement	syndrome = extra copies of gene TPSAB1 with elevated ALPHA-TRYPTASE and several symptoms of mast cell activation syndrome; trait = extra copies of gene with elevated levels of alpha-tryptase but few or no symptoms; https://rarediseases.info.nih.gov/diseases/13193/hereditary-alpha-tryptasemia-syndrome
type	http://www.w3.org/2002/07/owl#Class
tui	T047
HM	D000090267
SC	3
TERMUI	T001105064 T001103470
TH	NLM (2022)
MMR	20220101
notation	C000715748
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
cui	C5565749 C5539319
MeSH Frequency	6
DSC	20220101
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D000090267
MDA	20220101

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