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:
Granulocytopenia (HP:0001913)

Parent Node:
Agranulocytosis (HP:0012234)

..Starting node
..Congenital agranulocytosis (HP:0005541)

Term ID:

5541

Name:

Congenital agranulocytosis

Synonym:

Definition:

Congenital onset of a marked decrease in the number of granulocytes.

Comments:

Reference:

HP:0005541

Genes and Diseases:

Child Nodes:

Sister Nodes:

Drug-induced agranulocytosis (HP:0012235)

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:0005541	HP:0005541	Congenital agranulocytosis	0	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0005541	HP:0005541	Congenital agranulocytosis	0	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant	.	79

Genes (2) :AK2 ELANE

Diseases (2) :OMIM:267500 OMIM:202700

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