Human Phenotype Ontology

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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:
Tremor (HP:0001337)

Parent Node:
Action tremor (HP:0002345)

..Starting node
..Postural tremor (HP:0002174)

Term ID:

2174

Name:

Postural tremor

Synonym:

Tremor, postural

Definition:

A type of tremors that is triggered by holding a limb in a fixed position.

Comments:

Reference:

HP:0002174

Genes and Diseases:

Child Nodes:

........

Upper limb postural tremor (HP:0007351)

Sister Nodes:

Isometric tremor (HP:0030185)

Kinetic tremor (HP:0030186)

Titubation (HP:0030187)

Vocal tremor (HP:0012477)

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:0002174	HP:0002174	Postural tremor	0	ALDH18A1 CL E G H	5832	447760				ORPHA	1	437	9722	138250
HP:0002174	HP:0002174	Postural tremor	0	ALDH18A1 CL E G H	5832	447757				ORPHA	1	437	9722	138250
HP:0002174	HP:0002174	Postural tremor	0	ATXN2 CL E G H	6311	98756				ORPHA	1	53	10555	601517
HP:0002174	HP:0002174	Postural tremor	0	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	53	10555	601517
HP:0002174	HP:0002174	Postural tremor	0	COL6A3 CL E G H	1293	616411	Dystonia 27	616411	C4225336	OMIM	1	2414	2213	120250
HP:0002174	HP:0002174	Postural tremor	0	COQ2 CL E G H	27235	227510				ORPHA	1	205	25223	609825
HP:0002174	HP:0002174	Postural tremor	0	FMR1 CL E G H	2332	300623	Fragile X tremor/ataxia syndrome	300623	C1839780	OMIM	1	338	3775	309550
HP:0002174	HP:0002174	Postural tremor	0	FUS CL E G H	2521	614782	Tremor, hereditary essential, 4	614782	C3539195	OMIM	1	409	4010	137070
HP:0002174	HP:0002174	Postural tremor	0	GCH1 CL E G H	2643	98808				ORPHA	1	364	4193	600225
HP:0002174	HP:0002174	Postural tremor	0	GCH1 CL E G H	2643	128230	Dystonia 5, Dopa-responsive type	128230	C1851920	OMIM	1	364	4193	600225
HP:0002174	HP:0002174	Postural tremor	0	ITPR1 CL E G H	3708	206700	Gillespie syndrome	206700	C0431401	OMIM	1	1134	6180	147265
HP:0002174	HP:0002174	Postural tremor	0	ITPR1 CL E G H	3708	606658	Spinocerebellar ataxia 15	606658	C1847725	OMIM	1	1134	6180	147265
HP:0002174	HP:0002174	Postural tremor	0	KCND3 CL E G H	3752	607346	Spinocerebellar ataxia 19	607346	C1846367	OMIM	1	399	6239	605411
HP:0002174	HP:0002174	Postural tremor	0	MT-ATP6 CL E G H	4508	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7414	516060
HP:0002174	HP:0002174	Postural tremor	0	MT-CO3 CL E G H	4514	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7422	516050
HP:0002174	HP:0002174	Postural tremor	0	MT-CYB CL E G H	4519	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7427	516020
HP:0002174	HP:0002174	Postural tremor	0	MT-ND1 CL E G H	4535	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7455	516000
HP:0002174	HP:0002174	Postural tremor	0	MT-ND2 CL E G H	4536	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7456	516001
HP:0002174	HP:0002174	Postural tremor	0	MT-ND4 CL E G H	4538	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7459	516003
HP:0002174	HP:0002174	Postural tremor	0	MT-ND4L CL E G H	4539	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7460	516004
HP:0002174	HP:0002174	Postural tremor	0	MT-ND5 CL E G H	4540	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7461	516005
HP:0002174	HP:0002174	Postural tremor	0	MT-ND6 CL E G H	4541	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7462	516006
HP:0002174	HP:0002174	Postural tremor	0	OPA3 CL E G H	80207	67036				ORPHA	1	448	8142	606580
HP:0002174	HP:0002174	Postural tremor	0	PARK7 CL E G H	11315	606324	Parkinson disease 7	606324	C1853445	OMIM	1	160	16369	602533
HP:0002174	HP:0002174	Postural tremor	0	POLR3A CL E G H	11128	447896				ORPHA	1	785	30074	614258
HP:0002174	HP:0002174	Postural tremor	0	POLR3A CL E G H	11128	607694	Hypomyelinating leukodystrophy 7	607694	C2676243	OMIM	1	785	30074	614258
HP:0002174	HP:0002174	Postural tremor	0	POLR3B CL E G H	55703	607694	Hypomyelinating leukodystrophy 7	607694	C2676243	OMIM	1	368	30348	614366
HP:0002174	HP:0002174	Postural tremor	0	PRKRA CL E G H	8575	210571				ORPHA	1	163	9438	603424
HP:0002174	HP:0002174	Postural tremor	0	PRKRA CL E G H	8575	612067	Dystonia 16	612067	C2677567	OMIM	1	163	9438	603424
HP:0002174	HP:0002174	Postural tremor	0	SCARB2 CL E G H	950	254900	Epilepsy, progressive myoclonic 4, with or without renal failure	254900	C0751779	OMIM	1	422	1665	602257
HP:0002174	HP:0002174	Postural tremor	0	TENM4 CL E G H	26011	616736	Tremor, hereditary essential, 5	616736	C4225223	OMIM	1	100	29945	610084
HP:0002174	HP:0002174	Postural tremor	0	TH CL E G H	7054	101150				ORPHA	1	794	11782	191290
HP:0002174	HP:0002174	Postural tremor	0	TMEM240 CL E G H	339453	607454	Spinocerebellar ataxia 21	607454	C1843891	OMIM	1	192	25186	616101
HP:0002174	HP:0002174	Postural tremor	0	TPP1 CL E G H	1200	609270	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	609270	C1836474	OMIM	1	849	2073	607998
HP:0002174	HP:0002174	Postural tremor	0	VAPB CL E G H	9217	608627	Amyotrophic lateral sclerosis type 8	608627	C1837728	OMIM	1	319	12649	605704
HP:0002174	HP:0007351	Upper limb postural tremor	1	ALDH18A1 CL E G H	5832	447757				ORPHA	1	437	9722	138250
HP:0002174	HP:0007351	Upper limb postural tremor	1	ALDH18A1 CL E G H	5832	447760				ORPHA	1	437	9722	138250
HP:0002174	HP:0007351	Upper limb postural tremor	1	ATXN2 CL E G H	6311	98756				ORPHA	1	53	10555	601517
HP:0002174	HP:0007351	Upper limb postural tremor	1	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	53	10555	601517
HP:0002174	HP:0007351	Upper limb postural tremor	1	COL6A3 CL E G H	1293	616411	Dystonia 27	616411	C4225336	OMIM	1	2414	2213	120250
HP:0002174	HP:0007351	Upper limb postural tremor	1	COQ2 CL E G H	27235	227510				ORPHA	1	205	25223	609825
HP:0002174	HP:0007351	Upper limb postural tremor	1	FMR1 CL E G H	2332	300623	Fragile X tremor/ataxia syndrome	300623	C1839780	OMIM	1	338	3775	309550
HP:0002174	HP:0007351	Upper limb postural tremor	1	FUS CL E G H	2521	614782	Tremor, hereditary essential, 4	614782	C3539195	OMIM	1	409	4010	137070
HP:0002174	HP:0007351	Upper limb postural tremor	1	GCH1 CL E G H	2643	98808				ORPHA	1	364	4193	600225
HP:0002174	HP:0007351	Upper limb postural tremor	1	GCH1 CL E G H	2643	128230	Dystonia 5, Dopa-responsive type	128230	C1851920	OMIM	1	364	4193	600225
HP:0002174	HP:0007351	Upper limb postural tremor	1	ITPR1 CL E G H	3708	206700	Gillespie syndrome	206700	C0431401	OMIM	1	1134	6180	147265
HP:0002174	HP:0007351	Upper limb postural tremor	1	ITPR1 CL E G H	3708	606658	Spinocerebellar ataxia 15	606658	C1847725	OMIM	1	1134	6180	147265
HP:0002174	HP:0007351	Upper limb postural tremor	1	KCND3 CL E G H	3752	607346	Spinocerebellar ataxia 19	607346	C1846367	OMIM	1	399	6239	605411
HP:0002174	HP:0007351	Upper limb postural tremor	1	MT-ATP6 CL E G H	4508	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7414	516060
HP:0002174	HP:0007351	Upper limb postural tremor	1	MT-CO3 CL E G H	4514	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7422	516050
HP:0002174	HP:0007351	Upper limb postural tremor	1	MT-CYB CL E G H	4519	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7427	516020
HP:0002174	HP:0007351	Upper limb postural tremor	1	MT-ND1 CL E G H	4535	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7455	516000
HP:0002174	HP:0007351	Upper limb postural tremor	1	MT-ND2 CL E G H	4536	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7456	516001
HP:0002174	HP:0007351	Upper limb postural tremor	1	MT-ND4 CL E G H	4538	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7459	516003
HP:0002174	HP:0007351	Upper limb postural tremor	1	MT-ND4L CL E G H	4539	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7460	516004
HP:0002174	HP:0007351	Upper limb postural tremor	1	MT-ND5 CL E G H	4540	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7461	516005
HP:0002174	HP:0007351	Upper limb postural tremor	1	MT-ND6 CL E G H	4541	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7462	516006
HP:0002174	HP:0007351	Upper limb postural tremor	1	OPA3 CL E G H	80207	67036				ORPHA	1	448	8142	606580
HP:0002174	HP:0007351	Upper limb postural tremor	1	PARK7 CL E G H	11315	606324	Parkinson disease 7	606324	C1853445	OMIM	1	160	16369	602533
HP:0002174	HP:0007351	Upper limb postural tremor	1	POLR3A CL E G H	11128	447896				ORPHA	1	785	30074	614258
HP:0002174	HP:0007351	Upper limb postural tremor	1	POLR3A CL E G H	11128	607694	Hypomyelinating leukodystrophy 7	607694	C2676243	OMIM	1	785	30074	614258
HP:0002174	HP:0007351	Upper limb postural tremor	1	POLR3B CL E G H	55703	607694	Hypomyelinating leukodystrophy 7	607694	C2676243	OMIM	1	368	30348	614366
HP:0002174	HP:0007351	Upper limb postural tremor	1	PRKRA CL E G H	8575	210571				ORPHA	1	163	9438	603424
HP:0002174	HP:0007351	Upper limb postural tremor	1	PRKRA CL E G H	8575	612067	Dystonia 16	612067	C2677567	OMIM	1	163	9438	603424
HP:0002174	HP:0007351	Upper limb postural tremor	1	SCARB2 CL E G H	950	254900	Epilepsy, progressive myoclonic 4, with or without renal failure	254900	C0751779	OMIM	1	422	1665	602257
HP:0002174	HP:0007351	Upper limb postural tremor	1	TENM4 CL E G H	26011	616736	Tremor, hereditary essential, 5	616736	C4225223	OMIM	1	100	29945	610084
HP:0002174	HP:0007351	Upper limb postural tremor	1	TH CL E G H	7054	101150				ORPHA	1	794	11782	191290
HP:0002174	HP:0007351	Upper limb postural tremor	1	TMEM240 CL E G H	339453	607454	Spinocerebellar ataxia 21	607454	C1843891	OMIM	1	192	25186	616101
HP:0002174	HP:0007351	Upper limb postural tremor	1	TPP1 CL E G H	1200	609270	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	609270	C1836474	OMIM	1	849	2073	607998
HP:0002174	HP:0007351	Upper limb postural tremor	1	VAPB CL E G H	9217	608627	Amyotrophic lateral sclerosis type 8	608627	C1837728	OMIM	1	319	12649	605704
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002174	HP:0002174	Postural tremor	0	ATP13A2 CL E G H	23400	314632				ORPHA	0	738	30213	610513
HP:0002174	HP:0002174	Postural tremor	0	ATXN1 CL E G H	6310	98755				ORPHA	0	86	10548	601556
HP:0002174	HP:0002174	Postural tremor	0	BSCL2 CL E G H	26580	100998				ORPHA	0	435	15832	606158
HP:0002174	HP:0002174	Postural tremor	0	COQ2 CL E G H	27235	98933				ORPHA	0	205	25223	609825
HP:0002174	HP:0002174	Postural tremor	0	FGF14 CL E G H	2259	609307	Spinocerebellar ataxia 27	609307	C1836383	OMIM	0	208	3671	601515
HP:0002174	HP:0002174	Postural tremor	0	MFN2 CL E G H	9927	99947				ORPHA	0	1063	16877	608507
HP:0002174	HP:0002174	Postural tremor	0	MT-ATP6 CL E G H	4508	104				ORPHA	0		7414	516060
HP:0002174	HP:0002174	Postural tremor	0	MT-CO1 CL E G H	4512	104				ORPHA	0		7419	516030
HP:0002174	HP:0002174	Postural tremor	0	MT-CO3 CL E G H	4514	104				ORPHA	0		7422	516050
HP:0002174	HP:0002174	Postural tremor	0	MT-CYB CL E G H	4519	104				ORPHA	0		7427	516020
HP:0002174	HP:0002174	Postural tremor	0	MT-ND1 CL E G H	4535	104				ORPHA	0		7455	516000
HP:0002174	HP:0002174	Postural tremor	0	MT-ND2 CL E G H	4536	104				ORPHA	0		7456	516001
HP:0002174	HP:0002174	Postural tremor	0	MT-ND4 CL E G H	4538	104				ORPHA	0		7459	516003
HP:0002174	HP:0002174	Postural tremor	0	MT-ND4L CL E G H	4539	104				ORPHA	0		7460	516004
HP:0002174	HP:0002174	Postural tremor	0	MT-ND5 CL E G H	4540	104				ORPHA	0		7461	516005
HP:0002174	HP:0002174	Postural tremor	0	MT-ND6 CL E G H	4541	104				ORPHA	0		7462	516006
HP:0002174	HP:0002174	Postural tremor	0	NDUFS2 CL E G H	4720	104				ORPHA	0	178	7708	602985
HP:0002174	HP:0002174	Postural tremor	0	NIPA1 CL E G H	123606	100988				ORPHA	0	576	17043	608145
HP:0002174	HP:0002174	Postural tremor	0	PIK3R5 CL E G H	23533	64753				ORPHA	0	48	30035	611317
HP:0002174	HP:0002174	Postural tremor	0	PPP2R2B CL E G H	5521	98762				ORPHA	0	44	9305	604325
HP:0002174	HP:0002174	Postural tremor	0	REEP2 CL E G H	51308	401849				ORPHA	0	76	17975	609347
HP:0002174	HP:0002174	Postural tremor	0	SETX CL E G H	23064	64753				ORPHA	0	1290	445	608465
HP:0002174	HP:0002174	Postural tremor	0	STUB1 CL E G H	10273	412057				ORPHA	0	170	11427	607207
HP:0002174	HP:0002174	Postural tremor	0	TPP1 CL E G H	1200	284324				ORPHA	0	849	2073	607998
HP:0002174	HP:0007351	Upper limb postural tremor	1	ATP13A2 CL E G H	23400	314632				ORPHA	0	738	30213	610513
HP:0002174	HP:0007351	Upper limb postural tremor	1	ATXN1 CL E G H	6310	98755				ORPHA	0	86	10548	601556
HP:0002174	HP:0007351	Upper limb postural tremor	1	BSCL2 CL E G H	26580	100998				ORPHA	0	435	15832	606158
HP:0002174	HP:0007351	Upper limb postural tremor	1	COQ2 CL E G H	27235	98933				ORPHA	0	205	25223	609825
HP:0002174	HP:0007351	Upper limb postural tremor	1	FGF14 CL E G H	2259	609307	Spinocerebellar ataxia 27	609307	C1836383	OMIM	0	208	3671	601515
HP:0002174	HP:0007351	Upper limb postural tremor	1	MFN2 CL E G H	9927	99947				ORPHA	0	1063	16877	608507
HP:0002174	HP:0007351	Upper limb postural tremor	1	MT-ATP6 CL E G H	4508	104				ORPHA	0		7414	516060
HP:0002174	HP:0007351	Upper limb postural tremor	1	MT-CO1 CL E G H	4512	104				ORPHA	0		7419	516030
HP:0002174	HP:0007351	Upper limb postural tremor	1	MT-CO3 CL E G H	4514	104				ORPHA	0		7422	516050
HP:0002174	HP:0007351	Upper limb postural tremor	1	MT-CYB CL E G H	4519	104				ORPHA	0		7427	516020
HP:0002174	HP:0007351	Upper limb postural tremor	1	MT-ND1 CL E G H	4535	104				ORPHA	0		7455	516000
HP:0002174	HP:0007351	Upper limb postural tremor	1	MT-ND2 CL E G H	4536	104				ORPHA	0		7456	516001
HP:0002174	HP:0007351	Upper limb postural tremor	1	MT-ND4 CL E G H	4538	104				ORPHA	0		7459	516003
HP:0002174	HP:0007351	Upper limb postural tremor	1	MT-ND4L CL E G H	4539	104				ORPHA	0		7460	516004
HP:0002174	HP:0007351	Upper limb postural tremor	1	MT-ND5 CL E G H	4540	104				ORPHA	0		7461	516005
HP:0002174	HP:0007351	Upper limb postural tremor	1	MT-ND6 CL E G H	4541	104				ORPHA	0		7462	516006
HP:0002174	HP:0007351	Upper limb postural tremor	1	NDUFS2 CL E G H	4720	104				ORPHA	0	178	7708	602985
HP:0002174	HP:0007351	Upper limb postural tremor	1	NIPA1 CL E G H	123606	100988				ORPHA	0	576	17043	608145
HP:0002174	HP:0007351	Upper limb postural tremor	1	PIK3R5 CL E G H	23533	64753				ORPHA	0	48	30035	611317
HP:0002174	HP:0007351	Upper limb postural tremor	1	PPP2R2B CL E G H	5521	98762				ORPHA	0	44	9305	604325
HP:0002174	HP:0007351	Upper limb postural tremor	1	REEP2 CL E G H	51308	401849				ORPHA	0	76	17975	609347
HP:0002174	HP:0007351	Upper limb postural tremor	1	SETX CL E G H	23064	64753				ORPHA	0	1290	445	608465
HP:0002174	HP:0007351	Upper limb postural tremor	1	STUB1 CL E G H	10273	412057				ORPHA	0	170	11427	607207
HP:0002174	HP:0007351	Upper limb postural tremor	1	TPP1 CL E G H	1200	284324				ORPHA	0	849	2073	607998

Genes (56) :ALDH18A1 ANO3 ATP13A2 ATP6 ATXN1 ATXN2 BSCL2 CACNA1G COL6A3 COQ2 COX1 COX3 CYTB FGF14 FMR1 FUS GCH1 ITPR1 KCND3 MFN2 MPZ MT-ATP6 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 ND1 ND2 ND4 ND4L ND5 ND6 NDUFS2 NIPA1 OPA3 PARK7 PIK3R5 PMP22 POLR3A POLR3B PPP2R2B PRKRA REEP2 SCARB2 SETX STUB1 TENM4 TH TMEM240 TPP1 TUBB4A VAPB

Diseases (45) :447760 447757 314632 104 535000 98755 98756 183090 100998 616411 98933 227510 609307 300623 614782 98808 128230 206700 606658 607346 99947 100988 67036 606324 64753 447896 607694 98762 210571 612067 401849 254900 412057 616736 101150 607454 284324 609270 608627 420485 458803 464440 98769 180800 98805

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

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