Human Phenotype Ontology

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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:
Action tremor (HP:0002345)

Parent Node:
Limb tremor (HP:0200085)

Parent Node:
Postural tremor (HP:0002174)

..Starting node
..Upper limb postural tremor (HP:0007351)

Term ID:

7351

Name:

Upper limb postural tremor

Synonym:

Postural tremor of arms

Definition:

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

Comments:

Reference:

HP:0007351

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0007351	HP:0007351	Upper limb postural tremor	0	ANO3 CL E G H	63982	14004	ORPHA:420485	Cranio-cervical dystonia with laryngeal and upper-limb involvement	HP:0040283 - Occasional	17
HP:0007351	HP:0007351	Upper limb postural tremor	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040283 - Occasional	32
HP:0007351	HP:0007351	Upper limb postural tremor	0	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040283 - Occasional	35
HP:0007351	HP:0007351	Upper limb postural tremor	0	COL6A3 CL E G H	1293	2213	ORPHA:464440	Primary dystonia, DYT27 type	HP:0040282 - Frequent	702
HP:0007351	HP:0007351	Upper limb postural tremor	0	ITPR1 CL E G H	3708	6180	ORPHA:98769	Spinocerebellar ataxia type 15/16	HP:0040282 - Frequent	177
HP:0007351	HP:0007351	Upper limb postural tremor	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0007351	HP:0007351	Upper limb postural tremor	0	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	134
HP:0007351	HP:0007351	Upper limb postural tremor	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0007351	HP:0007351	Upper limb postural tremor	0	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	79
HP:0007351	HP:0007351	Upper limb postural tremor	0	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type	HP:0040283 - Occasional	66

Genes (10) :ANO3 CACNA1G CARS2 COL6A3 ITPR1 LMNB1 MPZ PLA2G6 PMP22 TUBB4A

Diseases (9) :ORPHA:420485 ORPHA:458803 ORPHA:477774 ORPHA:464440 ORPHA:98769 ORPHA:99027 OMIM:180800 OMIM:612953 ORPHA:98805

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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