Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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)

Parent Node:
Abnormal granulocyte morphology (HP:0001911)

..Starting node
..Granulocytopenia (HP:0001913)

Term ID:

1913

Name:

Granulocytopenia

Synonym:

Definition:

An abnormally reduced number of granulocytes in the blood.

Comments:

Reference:

HP:0001913

Genes and Diseases:

Child Nodes:

........

Agranulocytosis (HP:0012234)

................... HP:0005541 Congenital agranulocytosis
................... HP:0012235 Drug-induced agranulocytosis

Sister Nodes:

Abnormal basophil morphology (HP:0001912)

Abnormal eosinophil morphology (HP:0001879)

Abnormality of neutrophils (HP:0001874)

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:0001913	HP:0001913	Granulocytopenia	0	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0001913	HP:0001913	Granulocytopenia	0	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0001913	HP:0001913	Granulocytopenia	0	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	.	1
HP:0001913	HP:0001913	Granulocytopenia	0	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	19
HP:0001913	HP:0001913	Granulocytopenia	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.
HP:0001913	HP:0001913	Granulocytopenia	0	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	3
HP:0001913	HP:0001913	Granulocytopenia	0	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001913	HP:0001913	Granulocytopenia	0	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0001913	HP:0012234	Agranulocytosis	1	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0001913	HP:0012234	Agranulocytosis	1	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0001913	HP:0012234	Agranulocytosis	1	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001913	HP:0012235	Drug-induced agranulocytosis	2	CL E G H
HP:0001913	HP:0005541	Congenital agranulocytosis	2	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0001913	HP:0005541	Congenital agranulocytosis	2	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant	.	79

Genes (8) :AK2 ELANE RPS28 SF3B1 TAFAZZIN TET2 TLR8 UNC13D

Diseases (7) :OMIM:267500 OMIM:202700 OMIM:606164 ORPHA:75564 OMIM:302060 OMIM:301078 OMIM:608898

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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