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 hypoplasia (HP:0012139)

Term ID:

12139

Name:

Granulocytic hypoplasia

Synonym:

Definition:

Decreased number of granulocyte precursors in the bone marrow.

Comments:

Reference:

HP:0012139

Genes and Diseases:

Child Nodes:

Sister Nodes:

Granulocytic hyperplasia (HP:0012138)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012139	HP:0012139	Granulocytic hypoplasia	0	RPL18 CL E G H	6141	10310	OMIM:618310	DIAMOND-BLACKFAN ANEMIA 18; DBA18

Genes (1) :RPL18

Diseases (1) :OMIM:618310

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