Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Abnormality of blood and blood-forming tissues (HP:0001871)

Parent Node:
Abnormal erythrocyte morphology (HP:0001877)

..Starting node
..Reduced erythrocyte 2,3-diphosphoglycerate concentration (HP:0030271)

Term ID:

30271

Name:

Reduced erythrocyte 2,3-diphosphoglycerate concentration

Synonym:

Definition:

This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation.

Comments:

Reference:

HP:0030271

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal erythrocyte enzyme level (HP:0030272)

Abnormal hematocrit (HP:0031850)

Abnormal hemoglobin (HP:0011902)

Abnormal mean corpuscular volume (HP:0025065)

Abnormal number of erythroid precursors (HP:0012131)

Abnormal reticulocyte morphology (HP:0004312)

Anemia (HP:0001903)

Anisocytosis (HP:0011273)

Blood group antigen abnormality (HP:0010970)

Dysplastic erythropoesis (HP:0012134)

Increased hemoglobin oxygen affinity (HP:0004825)

Increased red cell osmotic fragility (HP:0005502)

Increased red cell osmotic resistance (HP:0005546)

Poikilocytosis (HP:0004447)

Polycythemia (HP:0001901)

Rouleaux formation (HP:0031898)

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:0030271	HP:0030271	Reduced erythrocyte 2,3-diphosphoglycerate concentration	0	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII	.	64
HP:0030271	HP:0030271	Reduced erythrocyte 2,3-diphosphoglycerate concentration	0	PKLR CL E G H	5313	9020	OMIM:102900	Adenosine triphosphate, elevated, of erythrocytes	.	51

Genes (2) :PFKM PKLR

Diseases (2) :OMIM:232800 OMIM:102900

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen