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 bone marrow cell morphology (HP:0005561)

Parent Node:
Abnormal megakaryocyte morphology (HP:0012143)

..Starting node
..Increased megakaryocyte count (HP:0005513)

Term ID:

5513

Name:

Increased megakaryocyte count

Synonym:

Definition:

Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow.

Comments:

Reference:

HP:0005513

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased micromegakaryocyte count (HP:0031386)

Increased multinucleated megakaryocyte count (HP:0031387)

Megakaryocyte dysplasia (HP:0031689)

Megakaryocyte nucleus hyperlobulation (HP:0031388)

Megakaryocyte nucleus hypolobulation (HP:0031385)

Megakaryocytopenia (HP:0005548)

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:0005513	HP:0005513	Increased megakaryocyte count	0	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	1
HP:0005513	HP:0005513	Increased megakaryocyte count	0	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	57
HP:0005513	HP:0005513	Increased megakaryocyte count	0	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera	.	57
HP:0005513	HP:0005513	Increased megakaryocyte count	0	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	97
HP:0005513	HP:0005513	Increased megakaryocyte count	0	MPL CL E G H	4352	7217	OMIM:601977	THROMBOCYTHEMIA 2; THCYT2		97
HP:0005513	HP:0005513	Increased megakaryocyte count	0	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	19
HP:0005513	HP:0005513	Increased megakaryocyte count	0	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	4
HP:0005513	HP:0005513	Increased megakaryocyte count	0	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	3
HP:0005513	HP:0005513	Increased megakaryocyte count	0	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	3
HP:0005513	HP:0005513	Increased megakaryocyte count	0	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	911

Genes (7) :CALR JAK2 MPL SF3B1 SH2B3 TET2 TP53

Diseases (4) :ORPHA:3318 OMIM:263300 OMIM:601977 ORPHA:75564

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