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
..Mastocytosis (HP:0100495)

Term ID:

100495

Name:

Mastocytosis

Synonym:

Definition:

The presence of an increased number of mast cells and CD34+ mast cell precursors in the body.

Comments:

Reference:

HP:0100495

Genes and Diseases:

Child Nodes:

........

Hepatic mastocytosis (HP:0031824)

........

Cutaneous mastocytosis (HP:0200151)

Sister Nodes:

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

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:0100495	HP:0100495	Mastocytosis	0	KIT CL E G H	3815	6342	ORPHA:280785	Bullous diffuse cutaneous mastocytosis		327
HP:0100495	HP:0100495	Mastocytosis	0	KIT CL E G H	3815	6342	OMIM:154800	Mastocytosis, cutaneous		327
HP:0100495	HP:0100495	Mastocytosis	0	KIT CL E G H	3815	6342	ORPHA:280794	Pseudoxanthomatous diffuse cutaneous mastocytosis		327
HP:0100495	HP:0031824	Hepatic mastocytosis	1	CL E G H
HP:0100495	HP:0200151	Cutaneous mastocytosis	1	KIT CL E G H	3815	6342	ORPHA:280785	Bullous diffuse cutaneous mastocytosis	HP:0040281 - Very frequent	327
HP:0100495	HP:0200151	Cutaneous mastocytosis	1	KIT CL E G H	3815	6342	OMIM:154800	Mastocytosis, cutaneous	.	327
HP:0100495	HP:0200151	Cutaneous mastocytosis	1	KIT CL E G H	3815	6342	ORPHA:280794	Pseudoxanthomatous diffuse cutaneous mastocytosis	HP:0040281 - Very frequent	327

Genes (1) :KIT

Diseases (3) :ORPHA:280785 OMIM:154800 ORPHA:280794

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