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:
Anemia of inadequate production (HP:0010972)

Parent Node:
Microcytic anemia (HP:0001935)

..Starting node
..Normochromic microcytic anemia (HP:0004856)

Term ID:

4856

Name:

Normochromic microcytic anemia

Synonym:

Normochromic microcytic anaemia

Definition:

A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.

Comments:

Reference:

HP:0004856

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypochromic microcytic anemia (HP:0004840)

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:0004856	HP:0004856	Normochromic microcytic anemia	0	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V	.	25
HP:0004856	HP:0004856	Normochromic microcytic anemia	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040282 - Frequent	25

Genes (1) :DNAJC19

Diseases (2) :OMIM:610198 ORPHA:66634

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