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 myeloid leukocyte morphology (HP:0010974)

Grandparent Node:
Abnormality of connective tissue (HP:0003549)

Parent Node:
Abnormal mast cell morphology (HP:0100494)

..Starting node
..Increased proportion of CD25+ mast cells (HP:0031408)

Term ID:

31408

Name:

Increased proportion of CD25+ mast cells

Synonym:

Definition:

An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain).

Comments:

Reference:

HP:0031408

Genes and Diseases:

Child Nodes:

Sister Nodes:

Mastocytosis (HP:0100495)

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:0031408	HP:0031408	Increased proportion of CD25+ mast cells	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	145
HP:0031408	HP:0031408	Increased proportion of CD25+ mast cells	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	317
HP:0031408	HP:0031408	Increased proportion of CD25+ mast cells	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040281 - Very frequent	239
HP:0031408	HP:0031408	Increased proportion of CD25+ mast cells	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	181
HP:0031408	HP:0031408	Increased proportion of CD25+ mast cells	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	1
HP:0031408	HP:0031408	Increased proportion of CD25+ mast cells	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	3

Genes (6) :ASXL1 CBL LYST RUNX1 SRSF2 TET2

Diseases (2) :ORPHA:98850 ORPHA:167

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