Human Phenotype Ontology

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:
Anemia of inadequate production (HP:0010972)

Parent Node:
Hypoplastic anemia (HP:0001908)

..Starting node
..Normocytic hypoplastic anemia (HP:0004819)

Term ID:

4819

Name:

Normocytic hypoplastic anemia

Synonym:

Normocytic hypoplastic anaemia

Definition:

A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits).

Comments:

Reference:

HP:0004819

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital hypoplastic anemia (HP:0004810)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004819	HP:0004819	Normocytic hypoplastic anemia	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria	150

Genes (1) :MVK

Diseases (1) :OMIM:610377

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