Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- Quick-Mitome
- Quick-Mitome-Report
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome
- Disease Portal
- HPO Ontology Browser
- Core Symptoms (draft)
- NAMDC-HPO Mapping (retired)
- Expert Panel
- Clinical
- Overview
- Leigh Syndrome Resource
Collaboration
Submission

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:
Tremor (HP:0001337)

..Starting node
..Resting tremor (HP:0002322)

Term ID:

2322

Name:

Resting tremor

Synonym:

Parkinsonian tremor; Rest tremor; Resting tremor; Tremor at rest

Definition:

A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse.

Comments:

Reference:

HP:0002322

Genes and Diseases:

Child Nodes:

........

Pill-rolling tremor (HP:0025387)

Sister Nodes:

Action tremor (HP:0002345)

Rubral tremor (HP:0030665)

Tremor by anatomical site (HP:0030188)

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:0002322	HP:0002322	Resting tremor	0	ADCY5 CL E G H	111	324588				ORPHA	1	480	236	600293
HP:0002322	HP:0002322	Resting tremor	0	ATP6AP2 CL E G H	10159	363654				ORPHA	1	303	18305	300556
HP:0002322	HP:0002322	Resting tremor	0	ATP6AP2 CL E G H	10159	300911	Parkinsonism with spasticity, X-linked	300911	C3806722	OMIM	1	303	18305	300556
HP:0002322	HP:0002322	Resting tremor	0	CHCHD2 CL E G H	51142	616710	Parkinson disease 22, autosomal dominant	616710	C4225238	OMIM	1	72	21645	616244
HP:0002322	HP:0002322	Resting tremor	0	COQ2 CL E G H	27235	98933				ORPHA	1	205	25223	609825
HP:0002322	HP:0002322	Resting tremor	0	DNAJC13 CL E G H	23317	411602				ORPHA	1	165	30343	614334
HP:0002322	HP:0002322	Resting tremor	0	DNAJC6 CL E G H	9829	391411				ORPHA	1	235	15469	608375
HP:0002322	HP:0002322	Resting tremor	0	EIF4G1 CL E G H	1981	411602				ORPHA	1	94	3296	600495
HP:0002322	HP:0002322	Resting tremor	0	FMR1 CL E G H	2332	300623	Fragile X tremor/ataxia syndrome	300623	C1839780	OMIM	1	338	3775	309550
HP:0002322	HP:0002322	Resting tremor	0	GBA CL E G H	2629	411602				ORPHA	1		4177	606463
HP:0002322	HP:0002322	Resting tremor	0	GIGYF2 CL E G H	26058	411602				ORPHA	1	255	11960	612003
HP:0002322	HP:0002322	Resting tremor	0	LRRK2 CL E G H	120892	411602				ORPHA	1	2226	18618	609007
HP:0002322	HP:0002322	Resting tremor	0	MICU1 CL E G H	10367	401768				ORPHA	1	166	1530	605084
HP:0002322	HP:0002322	Resting tremor	0	NR4A2 CL E G H	4929	168600	Parkinson disease, late-onset	168600	C3160718	OMIM	1	112	7981	601828
HP:0002322	HP:0002322	Resting tremor	0	PARK7 CL E G H	11315	606324	Parkinson disease 7	606324	C1853445	OMIM	1	160	16369	602533
HP:0002322	HP:0002322	Resting tremor	0	PINK1 CL E G H	65018	605909	Parkinson disease 6, autosomal recessive early-onset	605909	C1853833	OMIM	1	301	14581	608309
HP:0002322	HP:0002322	Resting tremor	0	PODXL CL E G H	5420	391411				ORPHA	1	134	9171	602632
HP:0002322	HP:0002322	Resting tremor	0	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0002322	HP:0002322	Resting tremor	0	POLG CL E G H	5428	157640	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1	157640	C1834846	OMIM	1	1917	9179	174763
HP:0002322	HP:0002322	Resting tremor	0	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0002322	HP:0002322	Resting tremor	0	RAB39B CL E G H	116442	311510	Parkinsonism, early onset with mental retardation	311510	C0796195	OMIM	1	307	16499	300774
HP:0002322	HP:0002322	Resting tremor	0	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0002322	HP:0002322	Resting tremor	0	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0002322	HP:0002322	Resting tremor	0	SNCA CL E G H	6622	411602				ORPHA	1	177	11138	163890
HP:0002322	HP:0002322	Resting tremor	0	SNCA CL E G H	6622	168601	Parkinson disease 1	168601	C1868595	OMIM	1	177	11138	163890
HP:0002322	HP:0002322	Resting tremor	0	SNCAIP CL E G H	9627	168600	Parkinson disease, late-onset	168600	C3160718	OMIM	1	118	11139	603779
HP:0002322	HP:0002322	Resting tremor	0	SYNJ1 CL E G H	8867	391411				ORPHA	1	1046	11503	604297
HP:0002322	HP:0002322	Resting tremor	0	TAF1 CL E G H	6872	53351				ORPHA	1	345	11535	313650
HP:0002322	HP:0002322	Resting tremor	0	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0002322	HP:0002322	Resting tremor	0	VPS13C CL E G H	54832	616840	Parkinson disease 23, autosomal recessive early-onset	616840	C4225186	OMIM	1	521	23594	608879
HP:0002322	HP:0002322	Resting tremor	0	VPS35 CL E G H	55737	411602				ORPHA	1	184	13487	601501
HP:0002322	HP:0025387	Pill-rolling tremor	1	ADCY5 CL E G H	111	324588				ORPHA	1	480	236	600293
HP:0002322	HP:0025387	Pill-rolling tremor	1	ATP6AP2 CL E G H	10159	363654				ORPHA	1	303	18305	300556
HP:0002322	HP:0025387	Pill-rolling tremor	1	ATP6AP2 CL E G H	10159	300911	Parkinsonism with spasticity, X-linked	300911	C3806722	OMIM	1	303	18305	300556
HP:0002322	HP:0025387	Pill-rolling tremor	1	CHCHD2 CL E G H	51142	616710	Parkinson disease 22, autosomal dominant	616710	C4225238	OMIM	1	72	21645	616244
HP:0002322	HP:0025387	Pill-rolling tremor	1	COQ2 CL E G H	27235	98933				ORPHA	1	205	25223	609825
HP:0002322	HP:0025387	Pill-rolling tremor	1	DNAJC13 CL E G H	23317	411602				ORPHA	1	165	30343	614334
HP:0002322	HP:0025387	Pill-rolling tremor	1	DNAJC6 CL E G H	9829	391411				ORPHA	1	235	15469	608375
HP:0002322	HP:0025387	Pill-rolling tremor	1	EIF4G1 CL E G H	1981	411602				ORPHA	1	94	3296	600495
HP:0002322	HP:0025387	Pill-rolling tremor	1	FMR1 CL E G H	2332	300623	Fragile X tremor/ataxia syndrome	300623	C1839780	OMIM	1	338	3775	309550
HP:0002322	HP:0025387	Pill-rolling tremor	1	GBA CL E G H	2629	411602				ORPHA	1		4177	606463
HP:0002322	HP:0025387	Pill-rolling tremor	1	GIGYF2 CL E G H	26058	411602				ORPHA	1	255	11960	612003
HP:0002322	HP:0025387	Pill-rolling tremor	1	LRRK2 CL E G H	120892	411602				ORPHA	1	2226	18618	609007
HP:0002322	HP:0025387	Pill-rolling tremor	1	MICU1 CL E G H	10367	401768				ORPHA	1	166	1530	605084
HP:0002322	HP:0025387	Pill-rolling tremor	1	NR4A2 CL E G H	4929	168600	Parkinson disease, late-onset	168600	C3160718	OMIM	1	112	7981	601828
HP:0002322	HP:0025387	Pill-rolling tremor	1	PARK7 CL E G H	11315	606324	Parkinson disease 7	606324	C1853445	OMIM	1	160	16369	602533
HP:0002322	HP:0025387	Pill-rolling tremor	1	PINK1 CL E G H	65018	605909	Parkinson disease 6, autosomal recessive early-onset	605909	C1853833	OMIM	1	301	14581	608309
HP:0002322	HP:0025387	Pill-rolling tremor	1	PODXL CL E G H	5420	391411				ORPHA	1	134	9171	602632
HP:0002322	HP:0025387	Pill-rolling tremor	1	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0002322	HP:0025387	Pill-rolling tremor	1	POLG CL E G H	5428	157640	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1	157640	C1834846	OMIM	1	1917	9179	174763
HP:0002322	HP:0025387	Pill-rolling tremor	1	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0002322	HP:0025387	Pill-rolling tremor	1	RAB39B CL E G H	116442	311510	Parkinsonism, early onset with mental retardation	311510	C0796195	OMIM	1	307	16499	300774
HP:0002322	HP:0025387	Pill-rolling tremor	1	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0002322	HP:0025387	Pill-rolling tremor	1	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0002322	HP:0025387	Pill-rolling tremor	1	SNCA CL E G H	6622	411602				ORPHA	1	177	11138	163890
HP:0002322	HP:0025387	Pill-rolling tremor	1	SNCA CL E G H	6622	168601	Parkinson disease 1	168601	C1868595	OMIM	1	177	11138	163890
HP:0002322	HP:0025387	Pill-rolling tremor	1	SNCAIP CL E G H	9627	168600	Parkinson disease, late-onset	168600	C3160718	OMIM	1	118	11139	603779
HP:0002322	HP:0025387	Pill-rolling tremor	1	SYNJ1 CL E G H	8867	391411				ORPHA	1	1046	11503	604297
HP:0002322	HP:0025387	Pill-rolling tremor	1	TAF1 CL E G H	6872	53351				ORPHA	1	345	11535	313650
HP:0002322	HP:0025387	Pill-rolling tremor	1	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0002322	HP:0025387	Pill-rolling tremor	1	VPS13C CL E G H	54832	616840	Parkinson disease 23, autosomal recessive early-onset	616840	C4225186	OMIM	1	521	23594	608879
HP:0002322	HP:0025387	Pill-rolling tremor	1	VPS35 CL E G H	55737	411602				ORPHA	1	184	13487	601501
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002322	HP:0002322	Resting tremor	0	ADCY5 CL E G H	111	606703	Dyskinesia, familial, with facial myokymia	606703	C1847627	OMIM	0	480	236	600293
HP:0002322	HP:0002322	Resting tremor	0	ATP1A3 CL E G H	478	71517				ORPHA	0	790	801	182350
HP:0002322	HP:0002322	Resting tremor	0	CACNA1G CL E G H	8913	458803				ORPHA	0	445	1394	604065
HP:0002322	HP:0002322	Resting tremor	0	COQ2 CL E G H	27235	227510				ORPHA	0	205	25223	609825
HP:0002322	HP:0002322	Resting tremor	0	DNMT1 CL E G H	1786	314404				ORPHA	0	995	2976	126375
HP:0002322	HP:0002322	Resting tremor	0	OPA3 CL E G H	80207	67036				ORPHA	0	448	8142	606580
HP:0002322	HP:0025387	Pill-rolling tremor	1	ADCY5 CL E G H	111	606703	Dyskinesia, familial, with facial myokymia	606703	C1847627	OMIM	0	480	236	600293
HP:0002322	HP:0025387	Pill-rolling tremor	1	ATP1A3 CL E G H	478	71517				ORPHA	0	790	801	182350
HP:0002322	HP:0025387	Pill-rolling tremor	1	CACNA1G CL E G H	8913	458803				ORPHA	0	445	1394	604065
HP:0002322	HP:0025387	Pill-rolling tremor	1	COQ2 CL E G H	27235	227510				ORPHA	0	205	25223	609825
HP:0002322	HP:0025387	Pill-rolling tremor	1	DNMT1 CL E G H	1786	314404				ORPHA	0	995	2976	126375
HP:0002322	HP:0025387	Pill-rolling tremor	1	OPA3 CL E G H	80207	67036				ORPHA	0	448	8142	606580

Genes (32) :ADCY5 ATP1A3 ATP6AP2 CACNA1G CHCHD2 COQ2 DNAJC13 DNAJC6 DNMT1 EIF4G1 FMR1 GBA GIGYF2 LRRK2 MICU1 NR4A2 OPA3 PARK7 PINK1 PODXL POLG POLG2 RAB39B RRM2B SLC25A4 SNCA SNCAIP SYNJ1 TAF1 TWNK VPS13C VPS35

Diseases (24) :324588 606703 71517 363654 300911 458803 616710 98933 227510 411602 391411 314404 300623 401768 168600 67036 606324 605909 254892 157640 311510 168601 53351 616840

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