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:
Abnormal erythrocyte morphology (HP:0001877)

Parent Node:
Abnormal mean corpuscular volume (HP:0025065)

..Starting node
..Decreased mean corpuscular volume (HP:0025066)

Term ID:

25066

Name:

Decreased mean corpuscular volume

Synonym:

Decreased MCV; Microcytosis; Reduced erythrocyte volume

Definition:

A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters).

Comments:

Reference:

HP:0025066

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased mean corpuscular volume (HP:0005518)

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:0025066	HP:0025066	Decreased mean corpuscular volume	0	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory		17
HP:0025066	HP:0025066	Decreased mean corpuscular volume	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040281 - Very frequent	580
HP:0025066	HP:0025066	Decreased mean corpuscular volume	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040281 - Very frequent	580
HP:0025066	HP:0025066	Decreased mean corpuscular volume	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040282 - Frequent	580
HP:0025066	HP:0025066	Decreased mean corpuscular volume	0	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease		580
HP:0025066	HP:0025066	Decreased mean corpuscular volume	0	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease	HP:0040281 - Very frequent	580
HP:0025066	HP:0025066	Decreased mean corpuscular volume	0	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS		186
HP:0025066	HP:0025066	Decreased mean corpuscular volume	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis	.
HP:0025066	HP:0025066	Decreased mean corpuscular volume	0	SLC11A2 CL E G H	4891	10908	OMIM:206100	Anemia, hypochromic microcytic, with iron overload 1	.	60
HP:0025066	HP:0025066	Decreased mean corpuscular volume	0	SLC25A38 CL E G H	54977	26054	OMIM:205950	Anemia, sideroblastic, 2, pyridoxine-refractory	.	41
HP:0025066	HP:0025066	Decreased mean corpuscular volume	0	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia	HP:0040283 - Occasional	109
HP:0025066	HP:0025066	Decreased mean corpuscular volume	0	SPTB CL E G H	6710	11274	OMIM:617948	ELLIPTOCYTOSIS 3; EL3		156
HP:0025066	HP:0025066	Decreased mean corpuscular volume	0	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2	.	1
HP:0025066	HP:0025066	Decreased mean corpuscular volume	0	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts	HP:0040282 - Frequent	1
HP:0025066	HP:0025066	Decreased mean corpuscular volume	0	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis		28

Genes (10) :GLRX5 HBB LPIN2 NHLRC2 SLC11A2 SLC25A38 SLC4A1 SPTB STEAP3 TRNT1

Diseases (15) :OMIM:616860 ORPHA:231222 ORPHA:231214 ORPHA:231226 ORPHA:90039 ORPHA:2133 OMIM:609628 OMIM:618278 OMIM:206100 OMIM:205950 OMIM:611590 OMIM:617948 OMIM:615234 ORPHA:300298 OMIM:616959

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