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:
Involuntary movements (HP:0004305)

Parent Node:
Myoclonus (HP:0001336)

..Starting node
..Myoclonic spasms (HP:0003739)

Term ID:

3739

Name:

Myoclonic spasms

Synonym:

Definition:

Comments:

Reference:

HP:0003739

Genes and Diseases:

Child Nodes:

........

Hemifacial spasm (HP:0010828)

Sister Nodes:

Chin myoclonus (HP:0012462)

Cortical myoclonus (HP:0040148)

Erratic myoclonus (HP:0025357)

Eyelid myoclonus (HP:0025097)

Limb myoclonus (HP:0045084)

Morning myoclonic jerks (HP:0007000)

Palatal myoclonus (HP:0010530)

Sleep myoclonus (HP:0012323)

Spinal myoclonus (HP:0010531)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0003739	HP:0003739	Myoclonic spasms	0	BRAT1 CL E G H	221927	614498	Rigidity and multifocal seizure syndrome, lethal neonatal	614498	C3281029	OMIM	1	1147	21701	614506
HP:0003739	HP:0003739	Myoclonic spasms	0	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0003739	HP:0003739	Myoclonic spasms	0	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0003739	HP:0003739	Myoclonic spasms	0	MT-ATP6 CL E G H	4508	644				ORPHA	1		7414	516060
HP:0003739	HP:0003739	Myoclonic spasms	0	ST3GAL5 CL E G H	8869	370938				ORPHA	1	373	10872	604402
HP:0003739	HP:0003739	Myoclonic spasms	0	TXN2 CL E G H	25828	478029				ORPHA	1	76	17772	609063
HP:0003739	HP:0010828	Hemifacial spasm	1	BRAT1 CL E G H	221927	614498	Rigidity and multifocal seizure syndrome, lethal neonatal	614498	C3281029	OMIM	1	1147	21701	614506
HP:0003739	HP:0010828	Hemifacial spasm	1	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0003739	HP:0010828	Hemifacial spasm	1	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0003739	HP:0010828	Hemifacial spasm	1	MT-ATP6 CL E G H	4508	644				ORPHA	1		7414	516060
HP:0003739	HP:0010828	Hemifacial spasm	1	ST3GAL5 CL E G H	8869	370938				ORPHA	1	373	10872	604402
HP:0003739	HP:0010828	Hemifacial spasm	1	TXN2 CL E G H	25828	478029				ORPHA	1	76	17772	609063
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003739	HP:0003739	Myoclonic spasms	0	GNAS CL E G H	2778	79444				ORPHA	0	644	4392	139320
HP:0003739	HP:0003739	Myoclonic spasms	0	GNAS CL E G H	2778	79443				ORPHA	0	644	4392	139320
HP:0003739	HP:0003739	Myoclonic spasms	0	GNAS CL E G H	2778	94089				ORPHA	0	644	4392	139320
HP:0003739	HP:0003739	Myoclonic spasms	0	STX16 CL E G H	8675	94089				ORPHA	0	209	11431	603666
HP:0003739	HP:0010828	Hemifacial spasm	1	GNAS CL E G H	2778	94089				ORPHA	0	644	4392	139320
HP:0003739	HP:0010828	Hemifacial spasm	1	GNAS CL E G H	2778	79443				ORPHA	0	644	4392	139320
HP:0003739	HP:0010828	Hemifacial spasm	1	GNAS CL E G H	2778	79444				ORPHA	0	644	4392	139320
HP:0003739	HP:0010828	Hemifacial spasm	1	STX16 CL E G H	8675	94089				ORPHA	0	209	11431	603666

Genes (10) :ATP6 BRAT1 GNAS INPP5E MOCS1 MOCS2 MT-ATP6 ST3GAL5 STX16 TXN2

Diseases (10) :644 614498 94089 79443 79444 252150 252160 370938 478029 213300

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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