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 erythrocyte morphology (HP:0001877)

Parent Node:
Polycythemia (HP:0001901)

..Starting node
..Increased red blood cell mass (HP:0001898)

Term ID:

1898

Name:

Increased red blood cell mass

Synonym:

Increased RBC mass

Definition:

The presence of an increased mass of red blood cells in the circulation.

Comments:

Reference:

HP:0001898

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased hemoglobin (HP:0001900)

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:0001898	HP:0001898	Increased red blood cell mass	0	EGLN1 CL E G H	54583	1232	OMIM:609820	Erythrocytosis, familial, 3	.	128
HP:0001898	HP:0001898	Increased red blood cell mass	0	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1	.	57
HP:0001898	HP:0001898	Increased red blood cell mass	0	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera	.	57
HP:0001898	HP:0001898	Increased red blood cell mass	0	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1	.	4
HP:0001898	HP:0001898	Increased red blood cell mass	0	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2	.	490

Genes (4) :EGLN1 JAK2 SH2B3 VHL

Diseases (4) :OMIM:609820 OMIM:133100 OMIM:263300 OMIM:263400

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