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:
Abnormality of blood and blood-forming tissues (HP:0001871)

Grandparent Node:
Neoplasm by anatomical site (HP:0011793)

Parent Node:
Hematological neoplasm (HP:0004377)

..Starting node
..Malignant eosinophil proliferation (HP:0006782)

Term ID:

6782

Name:

Malignant eosinophil proliferation

Synonym:

Definition:

Comments:

Reference:

HP:0006782

Genes and Diseases:

Child Nodes:

Sister Nodes:

Leukemia (HP:0001909)

Lymphoma (HP:0002665)

Lymphoproliferative disorder (HP:0005523)

Multiple myeloma (HP:0006775)

Myelodysplasia (HP:0002863)

Plasmacytoma (HP:0011857)

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:0006782	HP:0006782	Malignant eosinophil proliferation	0	PDGFRB CL E G H	5159	8804	OMIM:131440	Myeloproliferative disorder, chronic, with eosinophilia	.	28

Genes (1) :PDGFRB

Diseases (1) :OMIM:131440

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