Disease browser and phenotype portal

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MSeqDR-LSDB
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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Hereditary Sensory and Motor Neuropathy (D015417)
Parent Node: Tremor (D014202)
..Starting node ..Tremor hereditary essential, 2 (C536546)
Child Nodes:
Sister Nodes:
..Fragile X Tremor Ataxia Syndrome (C564105)
..Geniospasm (C537682)
..MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT (OMIM:300354)
..Primary orthostatic tremor (C536418)
..Tremor hereditary essential, 2 (C536546)
..Tremor of Intention, Ataxia, and Lipofuscinosis (C566038)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11216

Name:

Tremor hereditary essential, 2

Definition:

Alternative IDs:

OMIM:602134

ParentIDs:

MESH:D014202|MESH:D015417

TreeNumbers:

C10.500.300/C536546 |C10.574.500.495/C536546 |C10.597.350.850/C536546 |C10.668.829.800.300/C536546 |C16.131.666.300/C536546 |C16.320.400.375/C536546 |C23.888.592.350.850/C536546

Synonyms:

ETM2 |Tremor, Hereditary Essential, 2

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Signs and symptoms

Reference:

MedGen: C536546
MeSH: C536546
OMIM: 602134;

Genes: ETM2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0030186	Kinetic tremor
3	HP:0007351	Upper limb postural tremor

Disease Causing ClinVar Variants