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 granulocytopoietic cell morphology (HP:0012135)

Parent Node:
Abnormal number of granulocyte precursors (HP:0012137)

..Starting node
..Granulocytic hyperplasia (HP:0012138)

Term ID:

12138

Name:

Granulocytic hyperplasia

Synonym:

Definition:

Comments:

Reference:

HP:0012138

Genes and Diseases:

Child Nodes:

Sister Nodes:

Granulocytic hypoplasia (HP:0012139)

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:0012138	HP:0012138	Granulocytic hyperplasia	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	145
HP:0012138	HP:0012138	Granulocytic hyperplasia	0	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0012138	HP:0012138	Granulocytic hyperplasia	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	327
HP:0012138	HP:0012138	Granulocytic hyperplasia	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	1
HP:0012138	HP:0012138	Granulocytic hyperplasia	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	3

Genes (5) :ASXL1 IRF8 KIT SRSF2 TET2

Diseases (2) :ORPHA:98849 OMIM:226990

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