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:
Tremor by anatomical site (HP:0030188)

..Starting node
..Limb tremor (HP:0200085)

Term ID:

200085

Name:

Limb tremor

Synonym:

Involuntary shaking of limb; Limb tremor; Tremor of limbs

Definition:

Comments:

Reference:

HP:0200085

Genes and Diseases:

Child Nodes:

........

Upper limb postural tremor (HP:0007351)

Sister Nodes:

Hand tremor (HP:0002378)

Head tremor (HP:0002346)

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:0200085	HP:0200085	Limb tremor	0	ANO3 CL E G H	63982	14004	ORPHA:420485	Cranio-cervical dystonia with laryngeal and upper-limb involvement		17
HP:0200085	HP:0200085	Limb tremor	0	ANO3 CL E G H	63982	14004	OMIM:615034	Dystonia 24		17
HP:0200085	HP:0200085	Limb tremor	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42		32
HP:0200085	HP:0200085	Limb tremor	0	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27		35
HP:0200085	HP:0200085	Limb tremor	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0200085	HP:0200085	Limb tremor	0	CIZ1 CL E G H	25792	16744	ORPHA:420492	Adult-onset cervical dystonia, DYT23 type	HP:0040282 - Frequent	16
HP:0200085	HP:0200085	Limb tremor	0	COL6A3 CL E G H	1293	2213	ORPHA:464440	Primary dystonia, DYT27 type		702
HP:0200085	HP:0200085	Limb tremor	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency		43
HP:0200085	HP:0200085	Limb tremor	0	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94		30
HP:0200085	HP:0200085	Limb tremor	0	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35		8
HP:0200085	HP:0200085	Limb tremor	0	ITPR1 CL E G H	3708	6180	ORPHA:98769	Spinocerebellar ataxia type 15/16		177
HP:0200085	HP:0200085	Limb tremor	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy		44
HP:0200085	HP:0200085	Limb tremor	0	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia		134
HP:0200085	HP:0200085	Limb tremor	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0200085	HP:0200085	Limb tremor	0	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67	HP:0040282 - Frequent	20
HP:0200085	HP:0200085	Limb tremor	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0200085	HP:0200085	Limb tremor	0	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia		79
HP:0200085	HP:0200085	Limb tremor	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.	163
HP:0200085	HP:0200085	Limb tremor	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome	.	37
HP:0200085	HP:0200085	Limb tremor	0	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type		66
HP:0200085	HP:0200085	Limb tremor	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome	.	278
HP:0200085	HP:0007351	Upper limb postural tremor	1	ANO3 CL E G H	63982	14004	ORPHA:420485	Cranio-cervical dystonia with laryngeal and upper-limb involvement	HP:0040283 - Occasional	17
HP:0200085	HP:0007351	Upper limb postural tremor	1	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040283 - Occasional	32
HP:0200085	HP:0007351	Upper limb postural tremor	1	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040283 - Occasional	35
HP:0200085	HP:0007351	Upper limb postural tremor	1	COL6A3 CL E G H	1293	2213	ORPHA:464440	Primary dystonia, DYT27 type	HP:0040282 - Frequent	702
HP:0200085	HP:0007351	Upper limb postural tremor	1	ITPR1 CL E G H	3708	6180	ORPHA:98769	Spinocerebellar ataxia type 15/16	HP:0040282 - Frequent	177
HP:0200085	HP:0007351	Upper limb postural tremor	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0200085	HP:0007351	Upper limb postural tremor	1	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	134
HP:0200085	HP:0007351	Upper limb postural tremor	1	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0200085	HP:0007351	Upper limb postural tremor	1	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	79
HP:0200085	HP:0007351	Upper limb postural tremor	1	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type	HP:0040283 - Occasional	66

Genes (20) :ANO3 CACNA1G CARS2 CDC42BPB CIZ1 COL6A3 DDC GRIA3 ITPA ITPR1 LMNB1 MPZ PEX16 PGAP1 PLA2G6 PMP22 SLC12A6 SNRPN TUBB4A UBE3A

Diseases (19) :ORPHA:420485 OMIM:615034 ORPHA:458803 ORPHA:477774 OMIM:619841 ORPHA:420492 ORPHA:464440 OMIM:608643 OMIM:300699 OMIM:616647 ORPHA:98769 ORPHA:99027 OMIM:180800 OMIM:614877 ORPHA:401820 OMIM:612953 OMIM:218000 OMIM:105830 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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