Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal enzyme/coenzyme activity (HP:0012379)

Parent Node:
obsolete Abnormal serum tryptase concentration (HP:0031900)

..Starting node
..Elevated total serum tryptase (HP:0031901)

Term ID:

31901

Name:

Elevated total serum tryptase

Synonym:

Definition:

An abnormally elevated concentration of total tryptase (alpha and beta tryptase) in the blood circulation.

Comments:

Reference:

HP:0031901

Genes and Diseases:

Child Nodes:

Sister Nodes:

obsolete Decreased serum mast cell beta-tryptase concentration (HP:0031902)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031901	HP:0031901	Elevated total serum tryptase	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	145
HP:0031901	HP:0031901	Elevated total serum tryptase	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040281 - Very frequent	145
HP:0031901	HP:0031901	Elevated total serum tryptase	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	317
HP:0031901	HP:0031901	Elevated total serum tryptase	0	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma		327
HP:0031901	HP:0031901	Elevated total serum tryptase	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040281 - Very frequent	327
HP:0031901	HP:0031901	Elevated total serum tryptase	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	181
HP:0031901	HP:0031901	Elevated total serum tryptase	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	1
HP:0031901	HP:0031901	Elevated total serum tryptase	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040281 - Very frequent	1
HP:0031901	HP:0031901	Elevated total serum tryptase	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	3
HP:0031901	HP:0031901	Elevated total serum tryptase	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040281 - Very frequent	3

Genes (6) :ASXL1 CBL KIT RUNX1 SRSF2 TET2

Diseases (3) :ORPHA:98850 ORPHA:98849 ORPHA:79455

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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